Predicted mutation | ||||||
---|---|---|---|---|---|---|
evidence | seq id | position | mutation | annotation | gene | description |
RA | NC_000913_3_hsa_tpiA | 1,774,576 | G→A | G263E (GGG→GAG) | ydiB → | quinate/shikimate 5‑dehydrogenase, NAD(P)‑binding |
Read alignment evidence... | |||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | NC_000913_3_hsa_tpiA | 1,774,576 | 0 | G | A | 100.0% | 66.0 / NA | 25 | G263E (GGG→GAG) | ydiB | quinate/shikimate 5‑dehydrogenase, NAD(P)‑binding |
Reads supporting (aligned to +/- strand): ref base G (0/0); new base A (8/17); total (8/17) |
TTAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGGGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGATCTCGTCATTG > NC_000913_3_hsa_tpiA/1774438‑1774719 | ttAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAg > 2:81551/1‑149 (MQ=255) tatCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACAt < 1:81551/149‑1 (MQ=255) ttACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCGTGTTGTGTTGGCAAGAGGCTGAACAGTTCACAATCTGGAccgt > 2:101685/1‑146 (MQ=255) aTCCGTGATTTCTGGTCACTGAATTCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTTGTTGCAAAACGATTGATTGATACTGCATGTTGTTGTGGCAAGAGGCTTAACAGTTCACATTATGGACTGGCaaa < 2:348659/149‑1 (MQ=255) gggACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTACTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTAAACAGTTCACATTATGGACTGGCACAGAtt > 2:295978/1‑149 (MQ=255) ggACTTCCTGTCACTGAACGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATGGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGAttt < 1:92130/149‑1 (MQ=255) taCTGCATTCGTGTATAACCCGGATATGACGAATTTATTGCAGGAGGCGCAACAGTCTGGTTGCAAAACGATTGCTGGATTCGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTGCCCTCTGGAat < 2:284144/148‑1 (MQ=255) cGTGTATAACGCGCATATGGCGGAGTTATTGCAGGAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAACACAACGAATAGTGCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAAc < 1:293478/149‑1 (MQ=255) gAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCt < 2:400085/149‑1 (MQ=255) aaagcgaTTGCAGCAGCTGCAACAAGCTGGTTTCAAAACGATTGATGGATACGGCATGTTGTTGTGCCAAGAGGCAGAACAGTTCACATTATCGACCGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCt < 2:104811/143‑1 (MQ=255) aGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACTGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGa < 2:263921/149‑1 (MQ=255) agGCGCAACAACCTGGTTGCAAAACGATTGATGGATACGGCATTTGGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACcgc < 2:242992/149‑1 (MQ=255) aaGCTTGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGTAAGAGGCTGAACAGGTCACATTATGGACTGGCAAAGAGTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGaaa < 1:129293/149‑1 (MQ=255) aaGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTTGGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGaaa < 1:85716/149‑1 (MQ=255) aaGCGGGTTGCAAAAGGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGaaa < 1:87081/149‑1 (MQ=255) gCTGGTTGTAAAACGATTGATGGATACGGCTTGTTGTTGTGGCAAGAGGCTGAACAGTTCGTATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAgg < 2:123208/149‑1 (MQ=255) cTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAggg < 1:377272/149‑1 (MQ=255) tGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTca < 2:225183/55‑1 (MQ=255) tGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTca > 1:225183/1‑55 (MQ=255) aaaaCGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCACAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGACTGACAGGCTGCCCGCGTGCAGAAAGGGTAAAAGAt > 2:211876/1‑149 (MQ=255) aaCGATTGATGGATCCGGCATGTTGTTGTGGCACGAGGCTGACAAGTTCACATTCTGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGCGGTTCGGTGCCTGACAGGCTGACCGCGTGCCAACAGGGCAAACAATGa > 2:278271/1‑149 (MQ=255) aTACGGCATGTTGGTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCGTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACGGGCTGACCGCGTGCCGAAAGAGTGACGAGAGAAGACCGTCACTg > 2:153058/1‑149 (MQ=255) cGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGCATAAGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGCAAGGGGAAAAAATGAAAACCGAAACTGTaa > 1:367956/1‑149 (MQ=255) aTGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGa < 1:131588/149‑1 (MQ=255) gCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATGTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGATCTCGTCATTg < 1:151090/149‑1 (MQ=255) | TTAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGGGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGATCTCGTCATTG > NC_000913_3_hsa_tpiA/1774438‑1774719 |
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: ‑ |