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% | 116.9 / ‑6.7 | 44 | L50L (CTC→CTA) | ykfH | uncharacterized protein |
Reads supporting (aligned to +/- strand): ref base G (0/0); major base T (25/18); minor base C (0/1); total (25/19) | |||||||||||
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. |
CGGGCTCCCAGGCGCAGTGTAATCTCCCGCTGCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCGAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATCGTCATTGCCCTGCGTTTACTGATAATTT > NC_000913_3_hsa_tpiA/263952‑264243 | cGGGCTCCCAGGCGCAGTGTAACCTCCCGCTGCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAg < 1:551073/149‑1 (MQ=255) gCTCCCAGGCGCAGTGTAATCTCCCGCTGCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGAc > 1:804910/1‑149 (MQ=255) cgcAGTGTAATCTCCCGCTGCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGat > 1:432317/1‑149 (MQ=255) cAGTGTAATCTCCCGCTGCAGGCCCCTGGGAGGCATCGTAATTACAGTTCTCCACTATTGTCAGTTCAGAGTGATGCTCATCAGGCACGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGatat > 2:141847/1‑149 (MQ=255) aGTGTAATCTCCCGCTGCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATc < 1:208217/149‑1 (MQ=255) tcCCGCTGCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTGCACTATTGTCAGTTCGGGGTGATGCTCATCAGGCGGGTATAGGGCCCATTGCGGTCTTAGCGGCGTTCGGCGTATCCCGCTAGGACTCCGGCGATATCCGGAACGTc > 1:743272/1‑149 (MQ=255) ccGCTGCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTccc > 1:598904/1‑149 (MQ=255) ccGCTGCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGCTCGGCGTCTACCGCTAGGACTCCGGCGATACCCGGAACGTccc > 2:566626/1‑149 (MQ=255) cAGGCCCCTGGTAGGGTTGCTCATTACAGATCTCCGCAATATACAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAGCGTCCCTGACgg > 1:199313/1‑149 (MQ=255) ggCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGgtg < 1:651035/149‑1 (MQ=255) gcTGGTAGGGGTGGTCAGGACAGTGCTCGACGATGGTCAGTGCAGGGGGAGGCGCATGAGGGGGGTATAGGGCCCAGTGCGGTCCGGGGGGCGGTCGGCGTATACCGCTAGGGGTCGGGCGAGATCCGGAACGTCCCTGCCGGTGTGAt < 2:373711/148‑1 (MQ=255) tGGTAGGGTTGCTGATTACAGTTTTCCACTATTGTCGGTTCAGGGGGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATgc < 2:422978/149‑2 (MQ=255) gTAGGGTTGCTCATTACAGTTCTCCTCTATTGGCAGTTCAGGGTGAGGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACa < 1:346902/149‑1 (MQ=255) aGGGTGGTTCACTAAAGTTCTCCACTAGTGGCAGTTGAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATCGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTTCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGa < 2:237497/149‑1 (MQ=25) ggTTGCTAATTACAGTTCACCACAATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATAGCGCTAGGACTCCGGAGATATCCGGAACTTCCCTGCCGGTGTTATGACAGACg > 1:776919/1‑149 (MQ=25) cAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCAc < 2:598904/149‑1 (MQ=255) gTTCTCCACTATTGTGAGTTCAGGGTGATGCGCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTg < 2:151749/149‑1 (MQ=255) ttCTCTACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCTGGCCACTgt > 1:527648/1‑148 (MQ=255) ttCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTgg > 1:375587/1‑149 (MQ=255) tcCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTAt > 1:81759/1‑149 (MQ=255) cACTCTTGTCAGCTCAGCGTGTTGCTCATCAGTCAGTTATAGGGCGCAGTGCGGGCCGGGCGGCGTGCGGCGTAGACCGGTAGGACTCCGGCGATATCCCGAACGTCCCGGCCGGTGTAATGACAGACGCTACGGTGCCACTGGTAttt < 2:224269/149‑1 (MQ=18) cACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGGACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTAttt > 1:389536/1‑149 (MQ=255) ttGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAAGGACAGACGCTCCCGTGCCCCTGGTATTTGCCgg > 1:835928/1‑149 (MQ=255) gcAGTGCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGATAGGACTCCGGCGATAGACGGAAGGTCCCTGCCGGTGTAATGACAGCCGCCACCGTGACACTAGTATTTTCCGGTGc > 2:61555/2‑149 (MQ=255) tGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCTGTAGCGAAAGGtt > 1:132454/1‑149 (MQ=255) atcaGGCAGGGATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATGCCGCTCGGACGCCGGCGATCTCCGGAACGTCCCTGCCGGGATAATGACAAACGCTACCGTGCCACTGGTTTGTGCCGGTGCAGTGGCGAAAGGTTCgggc > 2:253662/1‑148 (MQ=255) aggcaggTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACCTCCCTGCCGGTGTAATGACCGACGCCGACTTGCCCCCGGTATTTTCCGGGGCAATACCTAAGAATTCGGGACTc > 1:397628/1‑149 (MQ=255) gcaggTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAg > 1:118663/1‑149 (MQ=255) ggTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGAt > 1:246738/1‑149 (MQ=255) cATTGCGGTCCTGGCGGCGTTCGGCATATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCGGGATGCTGGCGGtat > 1:434675/1‑149 (MQ=255) aTTGCGGTCCTGGCGGCGTTTGGCGTATATCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGTCAGACGCGACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGtata < 1:324798/149‑1 (MQ=17) ttGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTatat > 1:605516/1‑149 (MQ=255) cGGTCCTGGAGGCGGTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCGACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGATAAAGGAGGCTGGCGGTATATCGt < 2:687735/149‑1 (MQ=17) ggTCCTGGCGGCGTCCGGCGTATACCGCTAGGACTCCGGCAATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCATTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATCGTc < 1:196950/149‑1 (MQ=255) gTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATCGTCa < 1:267106/149‑1 (MQ=255) ggtcttgcGGCGTAGACCGCTAGGACGCCGGCGACATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATCGGCATTGCCCt < 2:158643/142‑1 (MQ=14) gTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGGATATCGTCATTGCCCTGCGt > 1:179063/1‑149 (MQ=255) tccGGCGTATACCGCCAGGACTCCGGCCATAACCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATCGTCATTGCCCTGCGtt < 1:294391/147‑1 (MQ=255) cGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATCGTCATTGCCCTGCGTTTa < 2:605516/149‑1 (MQ=255) ggCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATCGTCATTGCCCTGCGTTTAc > 1:696910/1‑149 (MQ=255) gCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTGTAGCGTCCTTGCCCTGCGTTTACt > 1:632526/1‑149 (MQ=255) gTATACCGCTAGGACTCTGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCCAAAGATTCGGGGCCCAGGACGCTGGCGGTATCTCGTCATTGCCCTGCGTTTACTGa < 2:621177/149‑1 (MQ=17) tgccGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGCCGCTACCGTGCCACTGGTATTTGACGGTGCAGTAGCGTAAGATTCGGGACTCAGGATGCTGGCGGTATATCGTCATTGCCCTGCGTTTACTGATaa < 1:808445/147‑1 (MQ=255) taCCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCCGGATGCTGGCGGTATCTTCCCCTTGCCCGCCGTTTACGGATaa > 2:789523/1‑149 (MQ=14) cgctAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTGCCGTGCCAGTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATCGTCATTGCCCTGCGTTTACTGATAAttt > 2:255388/1‑149 (MQ=255) | CGGGCTCCCAGGCGCAGTGTAATCTCCCGCTGCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCGAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATCGTCATTGCCCTGCGTTTACTGATAATTT > NC_000913_3_hsa_tpiA/263952‑264243 |
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: ‑ |