| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | NC_000913_3_hsa_tpiA | 2,795,396 | C→A | 100% | 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 | 96.9% | 85.4 / ‑4.8 | 33 | Q382K (CAG→AAG) | gabP | gamma‑aminobutyrate transporter |
| Reads supporting (aligned to +/- strand): ref base C (0/1); new base A (21/10); total (22/11) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 3.44e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 8.49e-01 | |||||||||||
| 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. | |||||||||||
CGTACGTGGCGGTGTTACTCTCCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCACAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATTCCGTCCGGCGCAACAGTTAG > NC_000913_3_hsa_tpiA/2795253‑2795540 | cGTACGTGGCGGTGTTACTCTCCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGCAGGTATTTAAATTTCTGATCGACACCTCCGGCGCTATAGCCCTGCTGGTTTATTTAGTCATCGCGGTTTCAAAGttc > 2:275193/1‑148 (MQ=255) gtTACTCTCCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATAGCCGTTTCAAAGTTCAGGAGTCGCaaaa > 1:96089/1‑149 (MQ=255) gtTACTCTCCACCGGCGCGGCATTCGTAACGGTGGCGGTGAACGATTACGCGCCTGAGAAGGTATTTAACTTTCTGATCGACAGCTCCGGCGCTATCGCCCAGCTGGTTATTTTAGTCATCGCCGTTCCAGAGTTGCGGATGCGCaaaa > 1:520807/1‑149 (MQ=255) tACTCTCCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTCTTTAGTCATCGCCGTTTCCAAGTTGCGGATGCGCACAAtt > 1:442691/1‑149 (MQ=255) ttAACGGTGGTGGTGAACTATTAGGGGCCTGCGGAGGTATTTAAATTTCTGATCGCCAGCTCTGGAGCTATGGCCCTGATGGTTTTTTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGAATACTTTTGCGAGCTGAAGGAAGGGAGAt > 2:158425/1‑149 (MQ=255) aaCGGTGGTGGTTAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTc < 1:22372/149‑1 (MQ=255) tggtggtgAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTg > 1:587063/1‑149 (MQ=255) aaCTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCAGCGCTATCGCCCTGCTGGGTTATTTAGTCATCGACGTTTCAAAGATACGGATGTTCATAATTCAGCGTGCCGAAGGAAGCGAGATTCGCTTGCCGAtgtg > 2:38206/1‑149 (MQ=255) tATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTCCGGGCAGAAGGAGGCAAAATTCGCTTGCGAATGTGGCt > 1:607933/1‑149 (MQ=255) tATTACGCGCCTGCGAAGGTATTATAATTTTTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCt < 1:352531/149‑1 (MQ=255) gtttACGCGTCTGCGAAGGGATGTATGTTTCTGAGTGAGAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGGCAACGCCGTTTTAAAGTTGCGGAGGCGCAAAATTCTGCAAGCAGAAGGAAGCGGTATTCGCTTGTGAATGTGGCt < 2:198791/147‑1 (MQ=255) ttACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGCAGGAAGCGAAATTCGCTTGCGAATGTGGGttt > 2:546949/1‑149 (MQ=255) ttACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCttt > 1:586719/1‑149 (MQ=255) ttACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTCCGAATGTGGCttt > 2:333156/1‑149 (MQ=255) gcgcCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATcc > 1:317410/1‑149 (MQ=255) gcCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGGTGTGCGCTCATATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGt < 1:473210/149‑1 (MQ=255) cTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTgg > 2:524337/1‑149 (MQ=255) cGAAGGTATTTAACTTTCTGGTCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTGTTTTGTCATCCGCGTTTCACAGTTGCGGTTGCGCAAAATTCTGCGAGCAGAAGTAATCGAAATGCGCTTGCGAATGTGGCCTTATCCGTGGCTc < 2:353519/149‑1 (MQ=255) ttAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTa < 1:576246/149‑1 (MQ=255) tttCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTCGTCAt > 1:667521/1‑149 (MQ=255) ttCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATc < 1:44474/149‑1 (MQ=255) tGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGc > 2:181864/1‑149 (MQ=255) gATCGACAGCTCCGGCGCTGTCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAGTTATGCGAGCAGAAGGAGGCGAAATGCGCTTGCGGATGTGGCTTTATCCTTGGCCCACCTAGCTAGCCATCGGCt > 2:416034/1‑149 (MQ=255) tCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGCGTTTTTTACCtt > 2:191959/1‑149 (MQ=255) ttCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGAGAAATTCGCTTGGGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGt < 1:216798/148‑1 (MQ=255) cccTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGGGTTGGTAGTg > 1:541879/1‑149 (MQ=255) ccTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGa > 1:57543/1‑149 (MQ=255) ctgGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTCTATTCCCTTTGTCTTGGTCGTGAGGCt > 2:213738/1‑149 (MQ=255) tctaGCCAGCGCCGTTTCAAAGTTACGGATGCGCAAAATCTTTCCAACAGAAGGAAGCGAAACACGCCTGCGAATGTGCCGCTACCCGTGGCTCACCTGGCTAGTCAGCGGCTTAATTAACTCCAGGATGGTAGTGATGCTATtccgtc < 2:347641/147‑1 (MQ=255) gCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATTCCGTCCGGCGCAACa > 1:510368/1‑149 (MQ=255) gCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATTCCGTCCGGCGCAACa > 1:320034/1‑149 (MQ=255) cGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATTCCGTCCGGCGCAACAGt < 1:617044/149‑1 (MQ=255) ttCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATTCCGTCCGGCGCAACAGTTAg < 1:555420/149‑1 (MQ=255) | CGTACGTGGCGGTGTTACTCTCCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCACAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATTCCGTCCGGCGCAACAGTTAG > NC_000913_3_hsa_tpiA/2795253‑2795540 |
| 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: ‑ |