| Predicted mutation | ||||||
|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | annotation | gene | description |
| RA | NC_000913_3_hsa_tpiA | 275,065 | G→A | T18I (ACC→ATC) | insH1 ← | IS5 transposase and trans‑activator |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913_3_hsa_tpiA | 275,065 | 0 | G | A | 91.7% | 22.9 / NA | 12 | T18I (ACC→ATC) | insH1 | IS5 transposase and trans‑activator |
| Reads supporting (aligned to +/- strand): ref base G (0/0); major base A (6/5); minor base C (1/0); total (7/5) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 | |||||||||||
GACAAGAAAATCTCTTTTCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGGTAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGATTATTAATCCCCACCCGCT > NC_000913_3_hsa_tpiA/275005‑275205 | gACAAGAAAATCTCTTTTCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGCTCAGTTGATGACTCATGATGAACCCTGTTCTATTGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAg > 2:402686/1‑149 (MQ=12) aCAAGAAAATCTCTTTTCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGGACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTGGCACCTTCCGgggg > 1:89738/1‑149 (MQ=9) atCTGGTCCGAAGGCTCTCACTGCAGAAGTCCCAGCCGGCCAAGACAAGTTCATGACTCATGATGAACCCAATACTATAACACCATAATACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTggcc < 2:577536/148‑2 (MQ=9) tGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGcc > 1:773266/1‑149 (MQ=255) ggTCTGACGGAGCGTACTGCTGAATTCACTGTCGGCGAAGATAAGTTTATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGccc < 2:452381/149‑1 (MQ=255) tCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGCCTCGTTCGCACCTTCCGGAGGCGTTATGACCTGCCGGcccgt > 2:455532/1‑147 (MQ=14) cTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCttt < 2:500782/149‑1 (MQ=255) gggtgAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGattat < 2:762452/146‑1 (MQ=255) aCTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGATTATTAATCCCCAc > 1:406229/1‑149 (MQ=255) cGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGATTATTAATCCCCACCCGCt > 1:562675/1‑149 (MQ=255) gCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTg < 1:247888/127‑1 (MQ=255) gCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTg > 2:247888/1‑127 (MQ=255) | GACAAGAAAATCTCTTTTCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGGTAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGATTATTAATCCCCACCCGCT > NC_000913_3_hsa_tpiA/275005‑275205 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 13 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |