| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | NC_000913_3_hsa_tpiA | 275,065 | G→A | 100% | 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 | 98.0% | 48.1 / ‑6.6 | 20 | T18I (ACC→ATC) | insH1 | IS5 transposase and trans‑activator |
| Reads supporting (aligned to +/- strand): ref base G (0/1); new base A (13/6); total (13/7) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 3.50e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 | |||||||||||
| Rejected as polymorphism: E-value score below prediction cutoff. | |||||||||||
| Rejected as polymorphism: Frequency below/above cutoff threshold. | |||||||||||
| Rejected as polymorphism: Variant not supported by required number of reads on each strand. | |||||||||||
CGGGACAAGAAAATCTCTTTTCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGGTAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGATTATTAATCCCCACCCGCTATTA > NC_000913_3_hsa_tpiA/275002‑275209 | cGGGACAAGAAGATCTCTTTTCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCg < 2:527164/149‑1 (MQ=11) aCAAGAAAATCTCTTTTCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAgg > 1:144507/1‑149 (MQ=18) gAAAATCTCTTTTCTGGGCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGtt < 1:82666/149‑1 (MQ=255) tctTTTCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACACAATCTAATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCt > 1:299289/1‑149 (MQ=255) ttttCTGGTCTGCCGGCGCTTACTGCTGAATTCACTGTCGGCGAAGATCAGTTGATGACTCAAGATGAACCCTGTTCTGTAGCTCCAGATGACAAGCATGATCTCATATCCGTGACCTGTTCCCCCTTTCCGGAGGCCTTATGAACTgg > 2:11025/1‑149 (MQ=14) ttttCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGCAGATACGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCCGATGACAAACATGATCTCATCTCAAGGCCCTCTTCGCAACTTCCCGAGGCATTATGCGATgg > 2:11019/1‑149 (MQ=11) ttCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGGTGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTggcg > 1:308440/1‑149 (MQ=255) cTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCttt < 1:556981/149‑1 (MQ=255) atGACGGCGCTTACTGCTGAATTAACCTTCCCCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTCCGCACCTTCCAGAAGCGTTATGAGCTTGCGGCCCtcg < 2:661142/148‑3 (MQ=14) tGACGGCGCGTACTGCTGAATTCACTGGCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCtttt < 2:92345/149‑1 (MQ=255) tgctgAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGattat > 1:276478/1‑149 (MQ=255) tgctgAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGattat > 1:132657/1‑149 (MQ=255) tgcggAATTCACTGCAGGCGAAGATAAGTTGGTGACTCATGATGAACCCTGTTGTATGGCTCCAGATGACAAACATGATCGCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCGTTTTGTATCTGattct < 2:217261/149‑3 (MQ=18) gctgAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTACAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGCAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGatgatt > 1:497322/1‑149 (MQ=255) ctgAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGAttatta > 1:662289/1‑149 (MQ=255) aaTTCACTGTCGGCGAAGGTAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGATTATTAATc < 2:277872/149‑1 (MQ=255) aTTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGATTATTAATcc > 1:95446/1‑149 (MQ=255) aCTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCAAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGCGGAGTTATGATCTGGCGGCCATTTTTGTATCTGATTATTAATCCCCAc > 2:662059/1‑149 (MQ=18) gCGAAGATAAGTTGATGACTCATGATGGACCCTGTTCTATGGCGCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGATTATTAATCCCCACCCACTAt > 1:544459/1‑149 (MQ=255) gAAGATAAGTTGATGACTCATGATGAACACTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGGTTATTAATACCCACCCGCTATTa > 2:564983/1‑149 (MQ=255) | CGGGACAAGAAAATCTCTTTTCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGGTAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGATTATTAATCCCCACCCGCTATTA > NC_000913_3_hsa_tpiA/275002‑275209 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 8 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |