Loading wildtype catalog...
63 wildtype units loaded (0 skipped: [])
Sample: 3599981341_r4
BAM: /tmp/miniwdl_task/work/_miniwdl_inputs/0/3599981341_r4.bam
Units: 4639 | Length-change anomalies: 30 | K-mer frac: 0.0070 | Call: POSITIVE
(K-mer rescued: kmer_frac=0.0070 >= 0.004)
Length-variant units:
Len Count Frac ED Match Description
---------------------------------------------------------------------------
61 11 0.0024 1 X +1bp ins at pos 21 (G), clinical: 59dupC
59 2 0.0004 19 D -1bp deletion (complex alignment)
59 2 0.0004 18 bJ -1bp deletion (complex alignment)
58 2 0.0004 22 aP -2bp deletion (complex alignment)
59 1 0.0002 18 P -1bp deletion (complex alignment)
59 1 0.0002 19 D -1bp deletion (complex alignment)
59 1 0.0002 18 D -1bp deletion (complex alignment)
62 1 0.0002 24 D +2bp insertion (complex alignment)
42 1 0.0002 19 W -18bp del at pos 35-52 (GCCCGGGGCCGGCCTGGT),
62 1 0.0002 24 D +2bp insertion (complex alignment)
42 1 0.0002 18 B -18bp del at pos 37-54 (CCGGGGCCGGCCTGCTCT),
18 1 0.0002 45 aN -42bp deletion (complex alignment)
59 1 0.0002 2 M -1bp deletion (complex alignment)
59 1 0.0002 21 D -1bp deletion (complex alignment)
61 1 0.0002 19 aE +1bp insertion (complex alignment)
Final call: POSITIVE
[]
K-mer evidence: kmer_frac=0.0070