| Predicted mutation | ||||||
|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | annotation | gene | description |
| RA | NC_000913_3_hsa_tpiA | 2,795,396 | C→A | Q382K (CAG→AAG) | gabP → | gamma‑aminobutyrate transporter |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913_3_hsa_tpiA | 2,795,396 | 0 | C | A | 94.1% | 84.5 / ‑6.1 | 34 | Q382K (CAG→AAG) | gabP | gamma‑aminobutyrate transporter |
| Reads supporting (aligned to +/- strand): ref base C (1/1); new base A (13/19); total (14/20) | |||||||||||
| 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 | |||||||||||
CGTGGCGGTGTTACTCTCCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCACAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATTCCGTCCGGCGCAACAGTTA > NC_000913_3_hsa_tpiA/2795257‑2795539 | cGTGGCGGTGTTACTCTCCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGa < 1:458305/149‑1 (MQ=255) aCTCTCCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGGTTCAACGTTGCGGATGCGCAAAATTc > 1:47939/1‑149 (MQ=255) tctcCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTTATCGACAGCTCCGGCGTTATCGCCCTGCTGGTTTCTTTAGTCATCTCCGCTTCAAACTTGCGGATGGTCAAAATTccg > 2:40507/1‑147 (MQ=255) tcCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGATTCAAAGTTGCGAGTGCGCAAAATTCTGCg > 1:267600/1‑149 (MQ=255) gcgcGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAgaa < 1:462673/149‑1 (MQ=255) gCATTCTTAACGGTGGTGGTGAATGATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAgaaggaag < 2:352300/149‑1 (MQ=255) aTTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCAGCAAGCGTAAGGGAGCg > 2:371274/1‑149 (MQ=255) ttCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTATGCGAGCAAAAGGAAGCGa > 2:494590/1‑149 (MQ=255) cTTAACGGTGGTGGTGAACTATTACGCTCCTGTGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGaaa < 1:149698/149‑1 (MQ=255) ttAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAAt > 1:92009/1‑149 (MQ=255) tggtggtgAAGTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATTGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTg < 2:307290/149‑1 (MQ=255) cTAGTACGCGCCTGCGAAGGTATTTAATTTTCTGATCGTCAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGc < 2:215772/149‑1 (MQ=255) gcgcCTGCGAAGGTATTTAAATTTCTGCTCGACAGCTCCGGCGCTATCGCCCTACTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAATTTGGCTTGCGGATGTGGCTTTATcc > 1:369820/1‑149 (MQ=255) aaGGTATTTAACTTTCTGATCTACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGCAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCAc < 2:415011/149‑1 (MQ=255) aaGGTATGTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTAATTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCAc < 2:415013/149‑1 (MQ=255) tttttAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTgg < 2:294125/147‑1 (MQ=255) gATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCt < 1:12807/149‑1 (MQ=255) cGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTtta < 1:323006/149‑1 (MQ=255) gcgccGGCGCTAACGCCCTGTTGGTTTATTTAGTCATCGGCGTTTCACAGTTGCGGATGCGCAAAATTCTGCAAGCCGGAGGGCGTGAAATTCGCTTGTGAGATTGGTTTTATCCGTGGCTTACTTGGCGAGTCAGCGGCTTTATTAcc < 2:396878/146‑1 (MQ=255) tCCGGTGTTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAATTTGCGTATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTttattcaccc < 2:149967/149‑6 (MQ=255) tCCGGCGCTATCGCCCTGCTGGTTTATGTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCtt < 2:220410/149‑1 (MQ=255) cTATCGCCCTGCTGGGTTATTTAGTCATCGCAGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTCTTACCTTTGTGTTg > 2:497773/1‑149 (MQ=255) tcttcatgccgGTTTATTTATGCATCGCGGTTGCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGGCGGAAGCGAAATTGGCTTGCGAATGTGGCTGTATCCGTGGCTCACCTGGCTAGTTATCGGTTTTATTACCTTTGTGTTGGTa < 2:163158/143‑1 (MQ=255) tCGCCCTGTTTGTGTATGTAGTCATAGGGTTTTTAAAGGTGCGGATGCGCAAAATTTTTCGGGCAGAAGGAAGCGAAATTCGCTTGCGATTGTTGCTTTATCCGTGGCTTACCTGGCTAGTCATCGGCTTTATTACTTTTGTGTTGGTa < 2:116660/149‑1 (MQ=255) gCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGACGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTGCCTTTGTGTTGGTAGt > 1:362301/1‑149 (MQ=255) ccTGCGTGTTTATTTAGTGATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGCAATTCGCTCGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTGATTACCTTTGTGTTGGTAGTGa < 2:333619/149‑1 (MQ=255) gTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCATTGTGTTGGTAGAGAAGCTAtc > 2:486638/1‑148 (MQ=255) cttatttaGACAACACCGTTTCCCAGTTGCGGATGCGCAAAAGTCTGCGAGGTAAAGTAAGCGAAATGCGTTGGCTAATGTGGCTTTATCCGTGGCTCAGCTGGCTAGTCATCGGCTTTATTACCTAGGTCGTGGTAGTGATGCTAtcc > 2:333613/2‑147 (MQ=255) ttatttaGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGGTGCTATtcc > 1:171805/1‑149 (MQ=255) gTCATCGACGTTTCAAAGTTGCGCATGCGCAAAATTCTGCCGTCACAAGGAAACGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATTCCGTCCGgc < 2:100108/149‑1 (MQ=255) aTCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTCCGAATGTGGCTTTATCCGTAGCTCACCTGGCTAGTCATCGGCGTTATTGCCTTTGTGTTGGTCATGTTGCTATTGCGTCGCGCGCa > 2:336179/1‑149 (MQ=255) ccGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATTCCGTCCGGCGCAACAg > 2:10506/1‑149 (MQ=255) tttCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGGAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATTCCGTCCGGCGCAACAGTTa < 1:378822/149‑1 (MQ=255) tttCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATTCCGTCCGGCGCAACAGTTa < 1:461308/149‑1 (MQ=255) | CGTGGCGGTGTTACTCTCCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCACAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATTCCGTCCGGCGCAACAGTTA > NC_000913_3_hsa_tpiA/2795257‑2795539 |
| 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: ‑ |