File Info

Filename
aih-tih-sc-284856-R1_A23WJ53LT4_1.fusions.csv
Full Path
s3://natera-rnd-pltf-dev-nextflow-scratch-01/work/b6/caf9b1e704a41117d1d180ee202eb0/aih-tih-sc-284856-R1_A23WJ53LT4_1.fusions.csv
Size
8.9 KB
Attempt
Fusion Databases Score Explained score arriba starfusion
NTRK3--NEPRO 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr15:88183418#chr3:113014032,reading-frame: out-of-frame,type: translocation,split_reads1: 217,split_reads2: 148,discordant_mates: 5,coverage1: 3574,coverage2: 1348,confidence: high position: chr15:88183418:-#chr3:113014032:-,junction_reads: 375,spanning_reads: 5,ffmp: 5.4554
GFPT1--RAB10 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr2:69387065#chr2:26098662,reading-frame: in-frame,type: inversion,split_reads1: 52,split_reads2: 39,discordant_mates: 0,coverage1: 834,coverage2: 464,confidence: high position: chr2:69387065:-#chr2:26098662:+,junction_reads: 91,spanning_reads: 0,ffmp: 1.3148
EFCAB14--CYP4A11 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr1:46689587#chr1:46938137,reading-frame: in-frame,type: duplication,split_reads1: 22,split_reads2: 28,discordant_mates: 0,coverage1: 1511,coverage2: 636,confidence: high position: chr1:46689587:-#chr1:46938137:-,junction_reads: 50,spanning_reads: 0,ffmp: 0.7224
HECTD4--VCL 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr12:112381952#chr10:74043083,reading-frame: in-frame,type: translocation,split_reads1: 28,split_reads2: 21,discordant_mates: 0,coverage1: 491,coverage2: 819,confidence: high position: chr12:112381952:-#chr10:74043083:+,junction_reads: 49,spanning_reads: 0,ffmp: 0.708
CRTC1--IFI30 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr19:18683828#chr19:18173804,reading-frame: out-of-frame,type: duplication,split_reads1: 19,split_reads2: 12,discordant_mates: 0,coverage1: 1878,coverage2: 290,confidence: high position: chr19:18683828:+#chr19:18173804:+,junction_reads: 31,spanning_reads: 0,ffmp: 0.4479
RAB10--GFPT1 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr2:26034735#chr2:69359326,reading-frame: in-frame,type: inversion,split_reads1: 10,split_reads2: 20,discordant_mates: 0,coverage1: 543,coverage2: 521,confidence: high position: chr2:26034735:+#chr2:69359326:-,junction_reads: 30,spanning_reads: 0,ffmp: 0.4335
FAM222B--RBL1 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr17:28766586#chr20:37007559,reading-frame: in-frame,type: translocation,split_reads1: 14,split_reads2: 11,discordant_mates: 0,coverage1: 827,coverage2: 144,confidence: high position: chr17:28766586:-#chr20:37007559:-,junction_reads: 26,spanning_reads: 0,ffmp: 0.3757
ZNF251--PIGF 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr8:144753683#chr2:46592583,reading-frame: out-of-frame,type: translocation,split_reads1: 15,split_reads2: 10,discordant_mates: 2,coverage1: 310,coverage2: 223,confidence: high position: chr8:144753683:-#chr2:46592583:-,junction_reads: 26,spanning_reads: 2,ffmp: 0.4046
FXR1--SOX2-OT 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr3:180912736#chr3:181563720,reading-frame: out-of-frame,type: deletion,split_reads1: 3,split_reads2: 21,discordant_mates: 0,coverage1: 800,coverage2: 24,confidence: high position: chr3:180912736:+#chr3:181563720:+,junction_reads: 24,spanning_reads: 0,ffmp: 0.3468
HECTD4--CASC11 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr12:112381952#chr8:127733959,reading-frame: out-of-frame,type: translocation,split_reads1: 12,split_reads2: 7,discordant_mates: 0,coverage1: 491,coverage2: 9,confidence: high position: chr12:112381952:-#chr8:127733959:-,junction_reads: 20,spanning_reads: 0,ffmp: 0.289
ZNF7--EPAS1 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr8:144829090#chr2:46346873,reading-frame: out-of-frame,type: translocation,split_reads1: 2,split_reads2: 12,discordant_mates: 0,coverage1: 404,coverage2: 1297,confidence: high position: chr8:144829090:+#chr2:46346873:+,junction_reads: 16,spanning_reads: 0,ffmp: 0.2312
ERBIN--SREK1 0.062 0.5 * (0.125) + 0.5 * () position: chr5:65926806:+#chr5:66162109:+,junction_reads: 12,spanning_reads: 0,ffmp: 0.1734
ATXN7L1--NAMPT 0.062 0.5 * (0.125) + 0.5 * () position: chr7:105875812:-#chr7:106277179:-,junction_reads: 12,spanning_reads: 0,ffmp: 0.0867
PLA2G6--FAM227A 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr22:38143105#chr22:38607476,reading-frame: in-frame,type: duplication,split_reads1: 5,split_reads2: 4,discordant_mates: 0,coverage1: 213,coverage2: 45,confidence: high position: chr22:38143105:-#chr22:38607476:-,junction_reads: 10,spanning_reads: 0,ffmp: 0.1445
SETD2--SMARCC1 Mitelman,FusionGDB2 0.375 0.5 * (0.125 + 0.125) + 0.5 * (0.500 + 0.000) position: chr3:47056821#chr3:47638780,reading-frame: out-of-frame,type: duplication,split_reads1: 6,split_reads2: 2,discordant_mates: 0,coverage1: 561,coverage2: 877,confidence: high position: chr3:47056821:-#chr3:47638780:-,junction_reads: 8,spanning_reads: 0,ffmp: 0.1156
EEF1G--AHNAK FusionGDB2 0.062 0.5 * (0.125) + 0.5 * (0.000) position: chr11:62572584#chr11:62491831,reading-frame: in-frame,type: deletion/read-through,split_reads1: 120,split_reads2: 285,discordant_mates: 4,coverage1: 4016,coverage2: 1607,confidence: high
EIF4B--KRT3 0.062 0.5 * (0.125) + 0.5 * () position: chr12:53034709#chr12:52795866,reading-frame: out-of-frame,type: duplication/5'-5',split_reads1: 105,split_reads2: 200,discordant_mates: 3,coverage1: 3913,coverage2: 744,confidence: high
PCDHA6--PCDHAC1 0.062 0.5 * (0.125) + 0.5 * () position: chr5:140830485#chr5:140978949,reading-frame: in-frame,type: deletion/read-through,split_reads1: 54,split_reads2: 127,discordant_mates: 2,coverage1: 291,coverage2: 794,confidence: high
PCDHA6--PCDHAC2 0.062 0.5 * (0.125) + 0.5 * () position: chr5:140830485#chr5:140978949,reading-frame: in-frame,type: deletion/read-through,split_reads1: 54,split_reads2: 127,discordant_mates: 2,coverage1: 291,coverage2: 794,confidence: high
PCDHA6--PCDHA13 0.062 0.5 * (0.125) + 0.5 * () position: chr5:140830485#chr5:140978949,reading-frame: in-frame,type: deletion/read-through,split_reads1: 54,split_reads2: 127,discordant_mates: 2,coverage1: 291,coverage2: 794,confidence: high
DYNC2I2--SH3GLB2 0.062 0.5 * (0.125) + 0.5 * () position: chr9:128633765#chr9:129025246,reading-frame: out-of-frame,type: duplication,split_reads1: 44,split_reads2: 46,discordant_mates: 3,coverage1: 533,coverage2: 84,confidence: high
LINC00921--ELOB 0.062 0.5 * (0.125) + 0.5 * () position: chr16:3264334#chr16:2775556,reading-frame: .,type: deletion/3'-3',split_reads1: 10,split_reads2: 46,discordant_mates: 0,coverage1: 11,coverage2: 3453,confidence: high
NTRK3--ABI3BP 0.062 0.5 * (0.125) + 0.5 * () position: chr15:88183418#chr3:100766185,reading-frame: out-of-frame,type: translocation/5'-5',split_reads1: 36,split_reads2: 3,discordant_mates: 0,coverage1: 3574,coverage2: 6,confidence: high
MAP4--FBXW12 0.062 0.5 * (0.125) + 0.5 * () position: chr3:47867246#chr3:48393370,reading-frame: out-of-frame,type: duplication/5'-5',split_reads1: 17,split_reads2: 10,discordant_mates: 1,coverage1: 1469,coverage2: 22,confidence: high
TRIM59--IFT80 Mitelman 0.312 0.5 * (0.125) + 0.5 * (0.500) position: chr3:160438232#chr3:160384646,reading-frame: out-of-frame,type: deletion/read-through,split_reads1: 21,split_reads2: 3,discordant_mates: 0,coverage1: 180,coverage2: 189,confidence: high
LRRC28--VSTM2B 0.062 0.5 * (0.125) + 0.5 * () position: chr15:99287951#chr19:29542953,reading-frame: out-of-frame,type: translocation/5'-5',split_reads1: 20,split_reads2: 1,discordant_mates: 1,coverage1: 305,coverage2: 4,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: 15,split_reads2: 7,discordant_mates: 0,coverage1: 122,coverage2: 53,confidence: high
CAMK2G--C10orf55 FusionGDB2 0.062 0.5 * (0.125) + 0.5 * (0.000) position: chr10:73872989#chr10:73941176,reading-frame: out-of-frame,type: duplication,split_reads1: 20,split_reads2: 2,discordant_mates: 0,coverage1: 396,coverage2: 2,confidence: high
CAMK2G--VCL 0.062 0.5 * (0.125) + 0.5 * () position: chr10:73872989#chr10:73941176,reading-frame: out-of-frame,type: duplication,split_reads1: 20,split_reads2: 2,discordant_mates: 0,coverage1: 396,coverage2: 2,confidence: high
AC015911.9--SLFN12L 0.062 0.5 * (0.125) + 0.5 * () position: chr17:35522279#chr17:35480195,reading-frame: .,type: deletion/read-through,split_reads1: 8,split_reads2: 12,discordant_mates: 1,coverage1: 194,coverage2: 116,confidence: high
STK4--KCNK15-AS1 0.062 0.5 * (0.125) + 0.5 * () position: chr20:44995257#chr20:44714274,reading-frame: out-of-frame,type: duplication/5'-5',split_reads1: 9,split_reads2: 1,discordant_mates: 0,coverage1: 510,coverage2: 4,confidence: high
ZNF528--ZNF610 FusionGDB2 0.062 0.5 * (0.125) + 0.5 * (0.000) position: chr19:52406643#chr19:52369560,reading-frame: out-of-frame,type: duplication,split_reads1: 8,split_reads2: 1,discordant_mates: 0,coverage1: 366,coverage2: 1,confidence: high
ZNF528--ZNF880 0.062 0.5 * (0.125) + 0.5 * () position: chr19:52406643#chr19:52369560,reading-frame: out-of-frame,type: duplication,split_reads1: 8,split_reads2: 1,discordant_mates: 0,coverage1: 366,coverage2: 1,confidence: high
34 rows