Predicted mutation | |||||||
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evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_000913_3_hsa_tpiA | 264,098 | G→T | 100% | L50L (CTC→CTA) | ykfH ← | uncharacterized protein |
Read alignment evidence... | |||||||||||
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seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | NC_000913_3_hsa_tpiA | 264,098 | 0 | G | T | 100.0% | 90.9 / ‑6.7 | 40 | L50L (CTC→CTA) | ykfH | uncharacterized protein |
Reads supporting (aligned to +/- strand): ref base G (0/2); new base T (22/15); total (23/17) | |||||||||||
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. |
CCAGGCGCAGTGTAATCTCCCGCTGCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCGAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATCGTCATTGCCCTGCGTTTACTGATAATTTTCA > NC_000913_3_hsa_tpiA/263959‑264246 | ccAGGCGCAGTGTAATCTCCCGCTGCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAAGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCg > 1:599947/1‑149 (MQ=255) gtgtAATCTCCCGCTGCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGCGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATcc < 1:624394/149‑1 (MQ=255) aTCTCCCGCTGCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCCCTAGGACTCCGGCGATATCCGGagc > 1:188579/1‑147 (MQ=255) tctcCCGCTGCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCCGGGGGATGCTCATCAGGCCGGTATGGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTGTACCCCTAGGCCTCCGGCGCACTCCGGGACg > 2:90767/1‑149 (MQ=255) tctcCCGCTGCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATACCCGGACCg > 2:106670/1‑149 (MQ=255) cggtGCAGGCCCCTGGTAGGGTTTCTCATTACAGGTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCt < 2:259416/146‑1 (MQ=255) cGCTGCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCt < 1:170379/149‑1 (MQ=255) cccTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTaa < 1:43375/149‑1 (MQ=255) gTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACa < 1:329831/149‑1 (MQ=255) ttACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGc > 2:395221/1‑149 (MQ=255) accgTTCTCCACTTTTTTCAGTTCATGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGAGGCGTTCGGCGTATACCGCTAGGACTTCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCGACCGTGCCa < 1:138541/146‑1 (MQ=21) aGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGCCCCTGCCGGGGTGATGAACGACGCTACCGTGACACt > 2:567347/1‑149 (MQ=255) tcCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGAAGCTACCGTGCCACTGGTAt > 1:364346/1‑149 (MQ=255) tcCACTATTGTCAGTTCAGGGTGATGATCATCAGGCAGGTATAGTGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATCCCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCGACTGGAAt > 2:386982/1‑149 (MQ=21) aTTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCg < 1:548780/149‑1 (MQ=255) aTTGTCAGTGGAGGGGGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCGAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCg < 2:176657/149‑1 (MQ=255) ttGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGGGTAATGACAGACGCTACCGTGGCACTGGGGTTGGCCgg > 1:243307/1‑149 (MQ=21) ggTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGaa > 1:162525/1‑149 (MQ=255) gTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGACCGTCCCTGCCGGTGTAATGGCAGACGCTACCGTGACACTGGTATTTGCCGGTGCAGTCGCGaaa > 2:95647/1‑149 (MQ=255) gTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGATGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGaaa > 1:305495/1‑149 (MQ=255) tcatcaGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATCTCCGGAACGTCCCTGCCGGTGTAATGTCAGCCGCTACCGTGCCACTGGTATTTTCCGGTGCAGTAGCGAAAGATTCgg > 2:337492/1‑149 (MQ=18) tcatcaGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCGGGTGGAATGACAGCAGCTACCGTGACACTGGACTGTGCCGGTGCCGTAGCCCAAGCTTcag > 2:158344/1‑147 (MQ=255) tcatcaGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCgg < 1:319114/149‑1 (MQ=255) ggCCCATTACGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCTGAACGTCCCTGCCGGGGTAATGACAGACGCTACCGTGCCACTGGTATTTTCCGGTGCAGTAACGAAACATTAGAGAAGCCGGATGCTGACg > 2:197137/1‑149 (MQ=17) gCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCgg > 1:343069/1‑149 (MQ=255) gCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCgg < 1:177505/149‑1 (MQ=255) tGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATc < 1:496464/149‑1 (MQ=255) gTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATAGTCa > 1:226964/1‑149 (MQ=255) tCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATCGTCAt < 1:468184/149‑1 (MQ=255) cTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATCTACGCAACGACTCGGCAGGCGTTATTACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGTTATAGCGTCATTg > 1:512928/1‑149 (MQ=17) gcgccgTTCCGCTTATACCGCTAGCACACCCACCATCTCCGGAACGTACCTGCCGGTATAATGACAGACGCTACCGTGCCACTGGTCTTAGCCGGTGCAGTCGCGAAAAATTCGGGACCCAGGATGCTGGCGCTATATCGTCATTTccc > 2:53106/1‑149 (MQ=14) tCGGCGTATACCGCAAGGACTCTGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGTCGGTATATCGTCCTTGCCCTGGGttt > 1:601922/1‑149 (MQ=17) cGGCGTATACCGCTAGGCTGCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATCGTCATTGCCCTGCGTTTa < 1:675354/149‑1 (MQ=255) cGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATCGTCATTGCCCTGCGTTTa < 2:647986/149‑1 (MQ=255) ggCGTATACCGCTAGGACTCCGGCGAGATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATCGTCATTGCCCTGCGTTTAc < 1:362314/149‑1 (MQ=255) ggCGGATACCGCTAGGCCTCCGGCGAGATCCGGAACGTCCCTGCCGGTGTAAGGACAGACGCTACCGGGGCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATCGTCATTGCCCTGCGTTTAc < 1:142876/149‑1 (MQ=17) cgCGTATGCCGCGAGGCCTCCGGTGATATCCGGAACGTCCCTGCCGGCGTAATGACAGACGCTACCGGGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATCGTCATTGCCCTGCGTTTAc < 1:400020/148‑1 (MQ=17) gCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTCATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTCGCGGTATATCGTCATTGCCCGGCGGTTACt > 2:305268/1‑149 (MQ=14) tagaCCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTACCGAAAGATTCGGGACTCAGGATCCTGGCGGTATATCGTCATTGCCCTGCCTTTACTGAt > 2:643463/4‑149 (MQ=17) ccGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATCGTCATTGCCCTGCGTTTACTGATAAtt > 1:421731/1‑149 (MQ=255) gagaACTGCGGCCATAGCCGGAACGTCCCTCCCGGTGTAAAGACAGACGATACCGAGCCACTGGTAGTTGCCGGTGCAGTAGCGAAAGATCCGGGACTCAGGATGCTGGCGGTATATCGTCATTGCCCTGCGTTTACTGATAATTTTCa < 1:390966/149‑1 (MQ=14) | CCAGGCGCAGTGTAATCTCCCGCTGCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCGAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATCGTCATTGCCCTGCGTTTACTGATAATTTTCA > NC_000913_3_hsa_tpiA/263959‑264246 |
Alignment Legend |
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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: ‑ |