| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | NC_002947 | 88,653 | T→A | 10.8% | Q222L (CAG→CTG) | betC ← | choline‑sulfatase |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_002947 | 88,653 | 0 | T | A | 10.8% | 106.1 / 5.3 | 37 | Q222L (CAG→CTG) | betC | choline‑sulfatase |
| Reads supporting (aligned to +/- strand): ref base T (17/16); new base A (2/2); total (19/18) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 7.90e-01 | |||||||||||
TCTGCAGCAATTGGCCGATGTTGTCATCGATATAGCTGCACGCGCCGAAGTAGGCGCGGCGGGCATCGCGAACCTTATCCACAGGCAGTGGCTTGTTCCAAAGGTCGTAGACCTTCAGCAGGCGCTGTGAATGCGGGTCGAGTTCTGCCTGGCTGAACTCGGCACGGGGCATGGGGATATCCACACCTTCGTAGCGGTCCCAGTAGCGTTTGGCAATGGTGTAGGGGTCATGCGGGTGGGTCATCGAAACGGTCAGGCAAAATGGCCGGCCATCGTTTTCGCGCACATGGTC > NC_002947/88504‑88795 | tCTGCAGCAATTGGCCGATGTTGTCATCGATATAGCTGCACGCGCCGAAGTAGGCGCGGCGGGCATCGCGAACCTTATCCACAGGCAGTGGCTTGTTCCAAAGGTCGTAGACCTTCAGCAGGCGCTGTGAATGCGGGTCGAGTTCTGCCt > 2:496191/1‑150 (MQ=255) cagcaATTGGCCGATGTTGTCATCGATATAGCTGCACGCGACGAAGTAGGCGCGGCGAGCATCGCGAACCTTATCCACAGGCAGTGGCTTGTTCCAAAGGTCGTAGACCTTCAGCAGGCGCTGTGAATGCGGGTGGAGTTCTGCCTGGCt > 2:139072/1‑150 (MQ=255) agcaATTGGCCGATGTTGTCATCGATATAGCTGCACGCGCCGAAGTAGGCGCGGCGGGCATCGCGAACCTTATCCACAGGCAGTGGCTTGTTCCAAAGGTCGTAGACCTTCAGCAGGCGCTGTGAATGCGGGTCGAGTTCTGCCTGGCTg > 2:279616/1‑150 (MQ=255) ttGGCCGATGTTGTCATCGATATAGCTGCACGCGCCGAAGTAGGCGCGGCGGGCATCGCGAACCTTATCCACAGGCAGTGGCTTGTTCCAAAGGTCGTAGACCTTCAGCAGGCGCTGTGAATGCGGGTCGAGTTCTGCCTGGCTGAACTc < 2:726249/150‑1 (MQ=255) ccGATGTTGTCATCGATATAGCTGCACGCGCCGAAGTAGGCGCGGCGGGCATCGCGAACCTTATCCACAGGCAGTGGCTTGTTCCAAAGGTCGTAGACCTTCAGCAGGCGCTGTGAATGCGGGTCGAGTTCTGCCTGGCTGAACTCGGCa > 2:435694/1‑150 (MQ=255) tCATCGATATAGCTGCACGCGCCGAAGTAGGCGCGGCGGGCATCGCGAACCTTATCCACAGGCAGTGGCTTGTTCCAAAGGTCGTAGACCTTCAGCAGGCGCTGTGAATGCGGGTCGAGTTCTGCCTGGCTGAACTCGGCACGGGGCATg < 1:279616/150‑1 (MQ=255) aTCGATATAGCTGCACGCGCCGAAGTAGGCGCGGCGGGCATCGCGAACCTTATCCACAGGCAGTGGCTTGTTCCAAAGGTCGTAGACCTTCAGCAGGCGCTGTGAATGCGGGTCGAGTTCTGCCTGGCTGAACTCGGCACGGGGCATggg > 2:243004/1‑150 (MQ=255) tCGATATAGCTGCACGCGCCGAAGTAGGCGCGGCGGGCATCGCGAACCTTATCCACAGGCAGTGGCTTGTTCCAAAGGTCGTAGACCTTCAGCAGGCGCTGTGAATGCGGGTCGAGTTCTGCCTGGCTGAACTCGGCACGGGGCATgggg > 2:598719/1‑150 (MQ=255) ataGCTGCACGCGCCGAAGTAGGCGCGGCGGGCATCGCGAACCTTATCCACAGGCAGTGGCTTGTTCCAAAGGTCGTAGACCTTCAGCAGGCGCTGTGAATGCGGGTCGAGTTCTGCCTGGCTGAACTCGGCACGGGGCATGGGGATATc < 1:625040/150‑1 (MQ=255) aCGCGCCGAAGTAGGCGCGGCGGGCATCGCGAACCTTATCCACAGGCAGTGGCTTGTTCCAAAGGTCGTAGACCTTCAGCAGGCGCTGTGAATGCGGGTCGAGTTCTGCCTGGCt > 2:92304/1‑115 (MQ=255) aCGCGCCGAAGTAGGCGCGGCGGGCATCGCGAACCTTATCCACAGGCAGTGGCTTGTTCCAAAGGTCGTAGACCTTCAGCAGGCGCTGTGAATGCGGGTCGAGTTCTGCCTGGCt < 1:92304/115‑1 (MQ=255) gcCGAAGTAGGCGCGGCGGGCATCGCGAACCTTATCCACAGGCAGTGGCTTGTTCCAAAGGTCGTAGACCTTCAGCAGGCGCTGTGAATGCGGGTCGAGTTCAGCCAGGCAGAACTCgaccc < 1:333597/122‑5 (MQ=255) gcCGAAGTAGGCGCGGCGGGCATCGCGAACCTTATCCACAGGCAGTGGCTTGTTCCAAAGGTCGTAGACCTTCAGCAGGCGCTGTGAATGCGGGTCGAGTTCAGCCAGGCAGAACTCgaccc > 2:333597/1‑118 (MQ=255) aGTAGGCGCGGCGGGCATCGCGAACCTTATCCACAGGCAGTGGCTTGTTCCAAAGGTCGTAGACCTTCAGCAGGCGCTGTGAATGCGGGTCGAGTTCTGCCTGGCTGAACTCGGCACGGGGCATGGGGATATCCACACCTTCGTAGCGGt > 1:34547/1‑150 (MQ=255) aGTAGGCGCGGCGGGCATCGCGAACCTTAGCCACAGGCAGTGGCTTGTTCCAAAGGTCGTAGACCTTCAGCAGGCGCTGTGAATGCGGGTCGAGTTCTGCCTGGCTGAACTCGGCACGGGGCATGGGGATATCCACACCTTCGTAGCGGt < 2:172819/150‑1 (MQ=255) gcgcGGCGGGCATCGCGAACCTTATCCACAGGCAGTGGCTTGTTCCAAAGGTCGTAGACCTTCAGCAGGCGCTGTGAATGCGGGTCGAGTTCTGCCTGGCTGAACTCGGCACGGGGCATGGGGATATCCACACCTTCGTAGCGGTCCCAg > 1:31760/1‑150 (MQ=255) gggCATCGCGAACCTTATCCACAGGCAGTGGCTTGTTCCAAAGGTCGTAGACCTTCAGCAGGCGCTGTGAATGCGGGTCGAGTTCTGCCTGGCTGAACTCGGCACGGGGCATGGGGATATCCACACCTTCGTAGCGGTCCCAGTAGCGtt < 2:336389/150‑1 (MQ=255) gCAGTGGCTTGTTCCAAAGGTCGTAGACCTTCAGCAGGCGCTGTGAATGCGGGTCGAGTTCTGCCTGGCTGAACTCGGCACGGGGCATGGGGATATCCACACCTTCGTAGCGGTCCCAGTa < 1:191623/121‑1 (MQ=255) gCAGTGGCTTGTTCCAAAGGTCGTAGACCTTCAGCAGGCGCTGTGAATGCGGGTCGAGTTCTGCCTGGCTGAACTCGGCACGGGGCATGGGGATATCCACACCTTCGTAGCGGTCCCAGTa > 2:191623/1‑121 (MQ=255) ggCTTGTTCCAAAGGTCGTAGACCTTCAGCAGGCGCTGTGAATGCGGGTCGAGTTCTGCCTGGCTGAACTCGGCACGGGGCATGGGGATATCCACACCTTCGTAGCGGTCCCAGTAGCGTTTGGCAATGGTGTAGGGGTCATGCgggtgg < 2:34547/150‑1 (MQ=255) ttGTTCCAAAGGTCGTAGACCTTCAGCAGGCGCTGTGAATGCGGGTCGAGTTCTGCCTGGCTGAACTCGGCACGGGGCATGGGGATATCTACACCTTCGTAGCGGTCCGAGTAGCGTTTGGCGATGGTGTAGGGGTTATGCGGGTGGGTc > 2:211816/1‑150 (MQ=255) ttGTTCCAAAGGTCGTAGACCTTCAGCAGGCGCTGTGAATGCGGGTCGAGTTCTGCCTGGCTGAACTCGGCACGGGGCATGGGGATATCCACACCTTCGTAGCGGTCCCAGTAGCGTTTGGCAATGGTGTAGGGGTCATGCGGGTGGGTc > 1:72054/1‑150 (MQ=255) gTTCCAAAGGTCGTAGACCTTCAGCAGGCGCTGTGAATGCGGGTCGAGTTCTGCCTGGCTGAACTCGGCACGGGGCATGGGGATATCCACACCTTCGTAGCGGTCCCAGTAGCGTTTGGCAATGGTGTAGGGGTCATGCGGGTGGGTCAt > 1:165936/1‑150 (MQ=255) ttCCAAAGGTCGTAGACCTTCAGCAGGCGCTGTGAATGCGGGTCGAGTTCTGCCTGGCTGAACTCGGCACGGGGCATGGGGATATCCACACCTTCGTAGCGGTCCCAGTAGCGTTTGGCAATGGTGTAGGGGTCATGCGGGTGGGTCATc < 2:72054/150‑1 (MQ=255) cAAAGGTCGTAGACCTTCAGCAGGCGCTGTGAATGCGGGTCGAGTTCTGCCTGGCTGAACTCGGCACGGGGCATGGGGATATCCACACCtt > 2:324202/1‑91 (MQ=255) cAAAGGTCGTAGACCTTCAGCAGGCGCTGTGAATGCGGGTCGAGTTCTGCCTGGCTGAACTCGGCACGGGGCATGGGGATATCCACACCTTCGTAGCGGTCCCAGTAGCGTTTgg < 1:33182/115‑1 (MQ=255) cAAAGGTCGTAGACCTTCAGCAGGCGCTGTGAATGCGGGTCGAGTTCTGCCTGGCTGAACTCGGCACGGGGCATGGGGATATCCACACCTTCGTAGCGGTCCCAGTAGCGTTTgg > 2:33182/1‑115 (MQ=255) cAAAGGGCGTAGACCTTCAGCAGGCGCTGTGAATGCGGGTCGAGTGCTGCCTGGCTGAACTCGGCACGGGGCATGGGGATATCCACACCtt < 1:324202/91‑1 (MQ=255) ggTCGTAGACCTTCAGCAGGCGCTGTGAATGCGGGTCGAGTTCTGCCTGGCTGAACTCGGCACGGGGCATGGGGATATCCACACCTTCGTAGCGGTCCCAGTAGCGTTTGGCAATGGTGTAGGGGTCATGCGGGTGGGTCATCGACACg > 2:22328/1‑149 (MQ=255) ggTCGTAGACCTTCAGCAGGCGCTGTGAATGCGGGTCGAGTTCTGCCTGGCTGAACTCGGCACGGGGCATGGGGATATCCACACCTTCGTAGCGGTCCCAGTAGCGTTTGGCAATGGTGTAGGGGTCATGCGGGTGGGTCATCGAAACg < 1:22328/149‑1 (MQ=255) cGTAGACCTTCAGCAGGCGCTGTGAATGCGGGTCGAGTTCTGCCTGGCTGAACTCGGCACGGGGCATGGGGATATCCACACCTTCGTAGCCGTCCTAGTAGCGTTTGGCAATGGTGTAGGGGTCATGCGGGTGGGTCATCGAAACGGTCa < 1:496191/150‑1 (MQ=255) cGTAGACCTTCAGCAGGCGCTGTGAATGCGGGTCGAGTTCTGCCTGGCTGAACTCGGCACGGGGCATGGGGATATCCACACCTTCGTAGAGGTCCCAGTAGCGTTTGGCAATGGTGTAGGGGTCATGCGGGTGGGTCATCGAAACGGTCa < 1:298256/150‑1 (MQ=255) cagGCGCTGTGAATGCGGGTCGAGTTCTGCCTGGCTGAACTCGGCACGGGGCATGGGGATATCCACACCTTCGTAGCGGTCCCAGTAGCGTTTGGCAATGGTGTAGGGGTCATGCGGGTGGGTCATCGAAACGGTCAGGCAAAATggccg < 1:435694/150‑1 (MQ=255) agGCGCTGTGAATGCGGGTCGAGTTCTGCCTGGCTGAACTCGGCACGGGGCATGGGGATATCCACACCTTCGTAGCGGTCCCAGTAGCGTTTGGCAATGGGGTAGGGGGCATGTGGGTGGGTCATCGAAACGGTGTGGCAAAATggccgg > 1:637088/1‑150 (MQ=255) tgcaTGCGGGTCGAGTTCTGCCTGGCTGAACTCGGCACGGGGCATGGGGATATCCACACCTTCGTAGCGGTCCCAGTAGCGTTTGGCAATGGTGTAGGGGTCATGCGGGTGGGTCATCGAAACGGTCAGGCAAAATGGCCGGCCATCGtt > 1:551209/4‑150 (MQ=255) cGAGTTCAGCCAGGCAGAACTCGGCACGGGGCATGGGGATATCCACACCTTCGTa < 2:317711/55‑1 (MQ=25) cGAGTTCAGCCAGGCAGAACTCGGCACGGGGCATGGGGATATCCACACCTTCGTa > 1:317711/1‑55 (MQ=25) ttCTGCCTGGCTGAACTCGGCACGGGGCATGGGGATATCCACACCTTCGTAGCGGTCCCAGTAGCGTTTGGCAATGGTGTAGGGGTCATGCGGGTGGGTCATCGAAACGGTCAGGCAAAATGGCCGGCCATCGTTTTCGCGCACATGGTc < 1:724084/150‑1 (MQ=255) | TCTGCAGCAATTGGCCGATGTTGTCATCGATATAGCTGCACGCGCCGAAGTAGGCGCGGCGGGCATCGCGAACCTTATCCACAGGCAGTGGCTTGTTCCAAAGGTCGTAGACCTTCAGCAGGCGCTGTGAATGCGGGTCGAGTTCTGCCTGGCTGAACTCGGCACGGGGCATGGGGATATCCACACCTTCGTAGCGGTCCCAGTAGCGTTTGGCAATGGTGTAGGGGTCATGCGGGTGGGTCATCGAAACGGTCAGGCAAAATGGCCGGCCATCGTTTTCGCGCACATGGTC > NC_002947/88504‑88795 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 37 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |