| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | NC_002947 | 5,567,008 | C→G | 13.5% | E177Q (GAA→CAA) | mutL ← | DNA mismatch repair protein MutL |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_002947 | 5,567,008 | 0 | C | G | 13.5% | 101.0 / 8.4 | 37 | E177Q (GAA→CAA) | mutL | DNA mismatch repair protein MutL |
| Reads supporting (aligned to +/- strand): ref base C (16/16); new base G (2/3); total (18/19) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.67e-01 | |||||||||||
CATGAAGCCCGGGCCGCAGATGGCACCCACCCGCCGTGCACGGGCGATTTCGTCGTGGGCCTCGTGCAGGCTGAGGATGCTCTTGCCATTGTGGCGCAGGTGGAAGCCGACATCGAAACGGGCCAGCGCCAGCCGCCGGATCACTTCCTGCAAGTGATCGAATTCGGTTTTCTCGGCTTTGAGGAACTTGCGCCTGGCCGGGGTATTGAAGAACAAATCGCGCACTTCCACCGAGGTACCGACCGGGTGC‑GCCGCCGGCTGCACCCGCGGCGTCATGTCGCGGCCTTCGGTTTC > NC_002947/5566862‑5567155 | cATGAAGCCCGGGCCGCAGATGGCACCCACCCGCCGTGCACGGGCGATTTCGTCGTGGGCCTCGTGCAGGCTGAGGATGCTCTTGCCATTGTGGCGCAGGTGGAAGCCGACATCGAAACGGGCCAGCGCCAGCCGCCGGATCACTTCCTg > 2:891656/1‑150 (MQ=255) gAAGCCCGGGCCGCAGATGGCACCCACCCGCCGTGCACGGGCGATTTCGTCGTGGGCCTCGTGCAGGCTGAGGATGCTCTTGCCATTGTGGCGCAGGTGGAAGCCGACATCGAAACGGGCCAGCGCCAGCCGCCGGATCACTTCCTGCaa < 1:273021/150‑1 (MQ=255) ccGGGCCGCAGATGGAACCCACCCGCCGTGCACGGGCGATTTCGTCGTGGGCCTCGTGCAGGCTGAGGATGCTCTTGCCATTGTGGCGCAGGTGGAAGCCGACATCGAAACGGGCCAGCGCCAGCCGCCGGATCACTTGCAGGAAGTGAt < 1:61648/150‑1 (MQ=255) cGGGCCGCAGATGGCACCCACCCGCCGTGCACGGGCGATTTCGTCGTGGGCCTCGTGCAGGCTGAGGATGCTCTTGCCATTGTGGCGCAGGTGGAAGCCGACATCGAAACGGGCCAGCGCCAGCCGCCGGATCACTTGCAGGAAGTGATc < 1:365350/150‑1 (MQ=255) cAGATGGCACCCACCCGCCGTGCACGGGCGATTTCGTCGTGGGCCTCGTGCAGGCTGAGGATGCTCTTGCCATTGTGGCGCAGGTGGAAGCCGACATCGAAACGGGCCAGCGCCAGCCGCCGGATCACTTCCTGCAAGTGATCGAATTCg < 2:926924/150‑1 (MQ=255) cAGATGGCACCCACCCGCCGTGCACGGGCGATTTCGTCGTGGGCCTCGGGCAGGCTGAGGATGCTCTTGCCATTGTGGCGCAGGTGGAAGCCGACATCGAAACGGGCCAGCGCCAGCCGCCGGATCACTTCCTGCAAGTGATCGAATTCg < 1:568374/150‑1 (MQ=255) tGGCACACACCCGCCGTGCACGGGCGATTTCGTCGTGGGCCTCGTGCAGGCTGAGGATGCTCTTGCCATTGTGGCGAAGGTGGAAGCGGAAATTGTAACGGTTCTTGTCCTGTAGCCGGAACACTTCCTGCAAGTGATCGAATTCGGttt < 1:193703/150‑1 (MQ=255) acccacccGCCGTGCACGGGCGATTTCGTCGTGGGCCTCGTGCAGGCTGAGGATGCTCTTGCCATTGTGGCGCAGGTGGAAGCCGACATCGAAACGGGCCAGCGCCAGCCGCCGGATCACTTCCTGCAAGTGATCGAATTCGGTTTtctc < 1:891656/150‑1 (MQ=255) ccacccGCCGTACACGGGCGATTTCGTCGTGGGCCTCGTGCAGGCTGAGGATGCTCTTGCCATTGTGGCGCAGGTGGAAGCCGACATCGAAACGGGCCAGCGCCAGCCGCCGGATCACTTCCTGCAAGTGATCGAATTCGGTTTTCTCgg > 1:986192/1‑150 (MQ=255) cacccGCCGTGCACGGGCGATTTCGTCGTGGGCCTCGTGCAGGCTGAGGATGCTCTTGCCATTGTGGCGCAGGTGGAAGCCGACATCGAAACGGGCCAGCGCCAGCCGCCGGATCACTTCCTGCAAGTGATCGAATTCGGTTTTCTCGGc < 1:1130239/150‑1 (MQ=255) cacccGCCGTGCACGGGCGATTTCGTCGTGGGCCTCGTGCAGGCTGAGGATGCTCTTGCCATTGTGGCGCAGGTGGAAGCCGACATCGAAACGGGCCAGCGCCAGCCGCCGGATCACTTCCTGCAAGTGATCGAATTCGGTTTTCTCGGc > 1:701175/1‑150 (MQ=255) gccgTGCACGGGCGATTTCGTCGTGGGCCTCGTGCAGGCTGAGGATGCTCTTGCCATTGTGGCGCAGGTGGAAGCCGACATCGAAACGGGCCAGCGCCAGCCGCCGGATCACTTCCTGCAAGTGATCGAATTCGGTTTTCTCGGCTTTGa < 1:1079880/150‑1 (MQ=255) gCGATTTCGTCGTTGGCCTCGTGCAGGCTGAGGATGCTCTTGCCATTGTGGCGCAGGTGGAAGCCGACATCGAAACGGGCCAGCGCCAGCCGCCGGATCACTTCCTGCAAGTGATCGAATTCGGTTTTCTCGGCTTTGAGGAACTTgcgc > 2:1069234/1‑150 (MQ=255) gtcgtGGGCCTCGTGCAGGCTGAGGATGCTCTTGCCATTGTGGCGCAGGTGGAAGCCGACATCGAAACGGGCCAGCGCCAGCCGCCGGATCACTTCCTGCAAGTGATCGAATTCGGTTTTCTCGGCTTTGAGGAACTTGCGCCTGGCCgg > 1:696632/1‑150 (MQ=255) tcgtTGGCCTCGTGCAGGCTGAGGATGCTCTTGCTATTGTGGCGCAGGTGGAATCCGACATCGAAACGGGCCAGCGCCAGCCGCCGGATCACTTCCTGCAAGTGATCGAATTCGGTTTTCTCGGCTTTGAGGAACTTGCGCCTGGCCggg < 2:410989/150‑1 (MQ=255) tcgtTGGCCTCGTGCAGGCTGAGGATGCTCTTGCCATTGTGGCGCAGGTGGAAGCCGACATCGAAACGGGCCAGCGCCAGCCGCCGGATCACTTCCTGCAAGTGATCGAATTCGGTTTTCTCGGCTTTGAGGAACTTGCGCCTGGCCggg < 1:1069234/150‑1 (MQ=255) gggCCTCGTGCAGGCTGAGGATGATTTAGGTTTTGTGGCGCAGGTGGAAGCCGACATCGAAACGGGCCAGCGCCAGCCGCCGGATCACTTCCTGCAAGTGATCGAATTCGGTTTTCTCGGCTTTGAGGAACTTGCGCCTGGCCGGGGTAt < 1:840549/150‑1 (MQ=255) ggCCTCGTGCAGGCTGAGGATGCTCTTGCCATTGTGGCGCAGGTGGAAGCCGACATCGAAACGGGCCAGCGCCAGCCGCCGGATCACTTCCTGCAAGTGATCGAATTCGGTTTTCTCGGCTTTGAGGAACTTGCGCCTGGCCGGGGNAtt < 2:701175/150‑1 (MQ=255) ccTCGTGCAGGCTGAGGATGCTCTTGCCATTGTGGCGCAGGTGGAAGCCGACATCGAAACGGGCCAGCGCCAGCCGCCGGATCACTTCCTGCAAGTGATCGAATTCGGTTTTCTCGGCTTTGAGGAACTTGCGCCTGGCCGGGGTATTga > 1:632948/1‑150 (MQ=255) cTCGTGCAGGCTGAGGATGCTCTTGCCATTGTGGCGCAGGTGGAAGCCGACATCGAAACGGGCCAGCGCCAGCCGCCGGATCACTTCCTGCAAGTGATCGAATTCGGTTTTCTCGGCTTTGAGGAACTTGCGCCTGGCCGGGGTATTgaa < 2:280094/150‑1 (MQ=255) cAGGCTGAGGATGCTCTTGCCATTGTGGCGCAGGTGGAAGCCGACATCGAAACGGGCCAGCGCCAGCCGCCGGATCACTTCCTGCAAGTGATCGAATTCGGTTTTCTCGGCTTTGAGGAACTTGCGCCTGGCCGGGGTATTGAAGAACaa > 2:806779/1‑150 (MQ=255) gCTGAGGATGCTCTTGCCATTGTGGCGCAGGTGGAAGCCGACATCGAAACGGGCCAGCGCCAGCCGCCGGATCACTTCCTGCAAGTGATCGAATTCGGTTTTCTCGGCTTTGAGGAACTTGCGCCTGGCCGGGGTATTGAAGAACAAATc > 2:526672/1‑150 (MQ=255) gATGCTCTTGCCATTGTGGCGCAGGTGGAAGCCGACATCGAAACGGGCCAGCGCCAGCCGCCGGATCACTTCCTGCAAGTGATCGAATTCGGTTTTCTCGGCTTTGAGGAACTTGCGCCTGGCCGGGGTATTGAAGAACAAATCGCGCAc > 1:731861/1‑150 (MQ=255) gCCATTGTGGCGCAGGTGGAAGCCGACATCGAAACGGGCCAGCGCCAGCCGCCGGATCACTTCCTGCAAGTGATCGAATTCGGTTTTCTCGGCTTTGAGGAACTTGCGCCTGGCCGGGGTATTGAAGAACAAATCGCGCACTTCCACCGa > 2:338485/1‑150 (MQ=255) aaGCCGACATCGAAACGGGCCAGCGCCAGCCGCCGGATCACTTCCTGCAAGTGATCGAATTCGGTTTTCTCGGCTTTGAGGAACTTGCGCCTGGCCGGGGTATTGAAGAACAAATCGCGCACTTCCACCGAGGTACCGACCGGGTGc‑gcc < 1:526672/150‑1 (MQ=255) aTCGAAACGGGCCAGCGCCAGCCGCCGGATCACTTCCTGCAAGTGATCGAATTCGGTTTTCTCGGCTTTGAGGAACTTGCGCCTGGCCGGGGTATTGAAGAACAAATCGCGCACTTCCACCGAGGTACCGACCGGGGGC‑GCCGCCGGCTg > 1:438556/1‑150 (MQ=255) tCGAAACGGGCCAGCGCCAGCCGCCGGATCACTTCCTGCAAGTGATCGAATTCGGTTTTCTCGGCTTTGAGGAACTTGCGCCTGGCCGGGGTATTGAAGAACAAATCGCGCACTTCCACCGAGGTACCGACCGGGTGC‑GCCGCCGGCTGc > 2:939798/1‑150 (MQ=255) ggCCAGCGCCAGCCGCCGGATCACTTCCTGCAAGTGATCGAATTCGGTTTTCTCGGCTTTGAGGAACTTGCGCCTGGCCGGGGTATTGAAGAACAAATCGCGCACTTCCACCGAGGTACCGACCGGGTGCAGCCGGCGGC‑GCACCcggtc < 2:889557/150‑4 (MQ=255) ccagcgccagcCGCCGGATCACTTCCTGCAAGTGATCGAATTCGGTTTTCTCGGCTTTGAGGAACTTGCGCCTGGCCGGGGTATTGAAGAACAAATCGCGCACTTCCACCGAGGTACCGACCGGGTGC‑GCCGCCGGCTGCACCCgcggcg > 2:883377/1‑150 (MQ=255) cgATCACTTGCAGGAAGTGATCGAATTCGGTTTTCTCGGCTTTGAGGAACTTGCGCCTGGCCGGGGTATTGAAGAACAAATCGCGCACTTCCACCGAGGTACCGACCGGGTGC‑GCCGCCGGCTGCACCCGCGGCGTCATGTCGCGGCCtt > 1:939841/2‑150 (MQ=255) gATCACTTGCAGGAAGTGATCGAATTCGGTTTTCTCGGCTTTGAGGAACTTGCGCCTGGCCGGGGTATTGAAGAACAAATCGCGCACTTCCACCGAg > 1:768542/1‑97 (MQ=255) gATCACTTGCAGGAAGTGATCGAATTCGGTTTTCTCGGCTTTGAGGAACTTGCGCCTGGCCGGGGTATTGAAGAACAAATCGCGCACTTCCACCGAg < 2:768542/97‑1 (MQ=255) aTCACTTCCTGCAAGTGATCGAATTCGGTTTTCTCGGCTTTGAGGAACTTGCGCCTGGCCGGGGTATTGAAGAACAAATCGCGCACTTCCACCGAGGTACCGACCGGGTGC‑GCCGCCGGCTGCACCCGCGGCGTCATGTCGCGGCCTTCg < 2:986192/150‑1 (MQ=255) tCACTTCCTGCAAGTGATCGAATTCGGTTTTCTCGGCTTTGAGGAACTTGCGCCTGGCCGGGGTATTGAAGAACAAATCGCGCACTTCCACCGa > 2:646792/1‑94 (MQ=255) tCACTTCCTGCAAGTGATCGAATTCGGTTTTCTCGGCTTTGAGGAACTTGCGCCTGGCCGGGGTATTGAAGAACAAATCGCGCACTTCCACCGa < 1:646792/94‑1 (MQ=255) ttCCTGCAAGTGATCGAATTCGGTTTTCTCGGCTTTGAGGAACTTGCGCCTGGCCGGGGTATTGAAGAACAAATCGCGCACTTCCACCGAGGTACCGACCGGGTGC‑GCCGCCGGCTGCACGCGCGGCGTCATGTCGCGGCCTTCGGTTTc > 1:504306/1‑150 (MQ=255) ttCCTGCAAGTGATCGAATTCGGTTTTCTCGGCTTTGAGGAACTTGCGCCTGGCCGGGGTATTGAAGAACAAATCGCGCACTTCCACCGAGGTACCGACCGGGTGC‑GCCGCCGGCTGCACCCGCGGCGTCATGTCGCGGCCTTCGGTTTc > 1:22286/1‑150 (MQ=255) | CATGAAGCCCGGGCCGCAGATGGCACCCACCCGCCGTGCACGGGCGATTTCGTCGTGGGCCTCGTGCAGGCTGAGGATGCTCTTGCCATTGTGGCGCAGGTGGAAGCCGACATCGAAACGGGCCAGCGCCAGCCGCCGGATCACTTCCTGCAAGTGATCGAATTCGGTTTTCTCGGCTTTGAGGAACTTGCGCCTGGCCGGGGTATTGAAGAACAAATCGCGCACTTCCACCGAGGTACCGACCGGGTGC‑GCCGCCGGCTGCACCCGCGGCGTCATGTCGCGGCCTTCGGTTTC > NC_002947/5566862‑5567155 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |