| Predicted mutation | ||||||
|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | annotation | gene | description |
| RA | NC_000913_3_hsa_tpiA | 2,173,363 | Δ2 bp | intergenic (‑1/+1) | gatC ← / ← gatC | pseudogene, galactitol‑specific enzyme IIC component of PTS;transport; Transport of small molecules: Carbohydrates, organic acids, alcohols; PTS system galactitol‑specific enzyme IIC/pseudogene, galactitol‑specific enzyme IIC component of PTS;transport; Transport of small molecules: Carbohydrates, organic acids, alcohols; PTS system galactitol‑specific enzyme IIC |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913_3_hsa_tpiA | 2,173,361 | 0 | C | . | 91.7% | 84.7 / 0.7 | 24 | pseudogene (2/442 nt) | gatC | pseudogene, galactitol‑specific enzyme IIC component of PTS;transport; Transport of small molecules: Carbohydrates, organic acids, alcohols; PTS system galactitol‑specific enzyme IIC |
| Reads supporting (aligned to +/- strand): ref base C (0/2); new base . (11/11); total (11/13) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 4.82e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.70e-01 | |||||||||||
| * | NC_000913_3_hsa_tpiA | 2,173,362 | 0 | C | . | 91.7% | 84.1 / 0.1 | 24 | pseudogene (1/442 nt) | gatC | pseudogene, galactitol‑specific enzyme IIC component of PTS;transport; Transport of small molecules: Carbohydrates, organic acids, alcohols; PTS system galactitol‑specific enzyme IIC |
| Reads supporting (aligned to +/- strand): ref base C (0/2); new base . (11/11); total (11/13) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 4.82e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 | |||||||||||
AACAGATTTCCACGATGCACGGCGACCGCCATCGCCACGAAGAAGCCGATGGTGGCAAGATCGCCAAACGGCAGCACCTGATTACCCGGCACACAAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCACCCCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGCCTGTAAACGACTACGAGCCTGCTTAGCGATGGGCGTTAAACCATCCATGATGGGTTTA > NC_000913_3_hsa_tpiA/2173216‑2173487 || aaCAGATTTCCACGATGCACGGCGACCGCCATCGCCACGAAGAAGCCGATGGTGGCAAGATCGCCAAACGGCAGCACCTGATTACCCGGCACACAAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATaccaccgc < 1:82336/149‑3 (MQ=255) aGATTTCCACGATGCACGGCGACCGCCATCGCCACGAAGAAGCCGATGGTGGCAAGATCGCCAAACGGCAGCACCTGATTACCCGGCACACAAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGCCTTGCCGATaccaccgccga > 1:537696/1‑144 (MQ=255) aTTTCCACGATGCACGGCGACCGCCATCGCCACGAAGAAGCCGATGGTGGCAAGATCGCCAAACGGCAGCACCTGATTACCCGGCACACAAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATaccaccgccgtat < 1:342644/149‑8 (MQ=255) cACGATGCACGGCGACCGCCATCGCCACGAAGAACCCGATGGCGGCACGCTCGACACCCGGCAGCACCTGATTACCCGGCACACACACAGCAATCAAAGTGGTGAGGGGGATAAAAATCAGGCTTGCCGATACAA‑‑CCGCCGTATGTcca > 2:332280/1‑148 (MQ=255) cGATGCACGGCGACCGCAAGCGCCACGAAGAAGCCGATGGTGGCAAGATCGCCAAACGGCAGCACCTGATTACCCGGCACACAAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCcag < 2:372361/149‑1 (MQ=255) aCGGCGACCGCCATCGCCACGAAGAAGCCGATGGTGGCAAGATCGCCAAACGGCAGCACCTGATTACCCGGCACACAAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCaa < 1:503230/149‑1 (MQ=255) ccATCGCCACGAAGAAGCCGATGGTGGCAAGATCGCCAAACGGCAGCACCTGATTACCCGGCACACAAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCa > 1:140548/1‑149 (MQ=255) cgtCGCCACGAACAGGCCCAGGGTGGCTAGATCGCGAAACGGCTGCACCTGACTCCCCGGCACACCAACAGCAATTAAAATGGTGAGTGGGATAACAATCAGGCTTGCCGATAC‑‑CCCCGCCGTATGTCCCAGCAGCAACGCCGGATCaa < 2:87862/147‑1 (MQ=255) aCGAAGAAGCCGATGGTGGCAAGATCGCCAAACGGCAGCACCTGATTACCCGGCACACCAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAAt > 1:475869/1‑149 (MQ=255) cAAACGGCAGCACCTGATTACCCGGCACACCAACAGGAATTAGAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGcc < 1:441525/149‑1 (MQ=255) cAAACGGCAGCACCTGATTACCCGGCACACAAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCCATCAACAACTCCTGACCGCCGACCTTCGcc > 2:363011/1‑149 (MQ=255) cagcaCCTGATTACCCGGCACACAAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGACCTCCTGACCGCCGAACTTCGCCTGTAAAc < 1:542437/149‑1 (MQ=255) cTGATTACCCGGCACACAAACAGCGATTAAAATGGTGAGTGGGGTTTTGAGGAGGCTAGACTTGACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGCCTGTCAACGACTAc > 1:133391/1‑149 (MQ=255) cccGGCACACAAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGCCTGTAAACGACTACGAGCCTg > 1:222821/1‑149 (MQ=255) gCACACAAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCGGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGCCTGTAAACGACTACGAACCTGCTTa > 1:219105/1‑149 (MQ=255) caAAGAGCAATTAAAATGGTGAGTTGGAAAACGATCGGGCATGTCGATACCA‑‑CCGTCGTATGGCTGAGTATCAACGCCGGATCAAGGCCAATCAGGAAGTCCTGACCGCCGAACTTCGCCTGTAAACGACTACGAGCCTGCTTAGCGAt < 2:477334/149‑1 (MQ=255) aaCAGCCATTGAATTTGGGAGTGGGATAAAAAGCAGGCGTCCCGATGCCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGTAACTCCTGACCGCCGAACTTCGCCTGTAAACGACTACGAGCCTGCTTAGCGATgg < 2:391374/149‑1 (MQ=255) aaTTAAAATGGTGAGTGGGATAAAAATCAAGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCACTCAGGAACTCCTGACCGCCGAACTTCGCCTGTAAACGACTACGAGCCTGCTTACCGCTGGGCGtca > 2:111532/1‑147 (MQ=255) ttAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGTTACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGCCTGTAAACGACTACGAGCCTGCTTAGCGATGGGCGTTaaa < 1:532600/149‑1 (MQ=255) ttAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGCCTGTAAACGACTACGAGCCTGCTTAGCGATGGGCGTTaaa < 1:302932/149‑1 (MQ=255) aTGGTTAGTGGGATAAAAATCACGCTTGCCGATAC‑‑CCCCGCCGTATGTCCCAGCAGCAACGCCGTATCAAGGCCAATCAGGATCTCCTGACCGCCGAACTTCGCCTGTAAACGACTACGAGCCTTCTTAGCGATTGGCGTTAAAccatc < 1:493120/149‑1 (MQ=255) gAGTGGGATAAAAAGCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGCCTGTAAACGACTACGAGCCTGCTTAGCGATGGGCGTTAAACCATCCatga < 1:68400/149‑1 (MQ=255) gTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGCCTGTAAACGACTACGAGCCTGCTTAGCGATAGGCGTTAAACCATCCgtgatg > 2:485648/1‑149 (MQ=255) ggggATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGCCTGTAAACGACTACGAGCCTGCTTAGCGATGGGCGTTAAACCATCCATGATgg < 2:174676/148‑1 (MQ=255) gggATAAAAAGCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGCCTGTAAACGACTTCGCGCCTGCTTAGCGATGGGCGTTAAACCATCCATGATggg < 2:500693/149‑1 (MQ=255) aTAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGCCTGTAAACGACTCCGAGCCTGCTTAGCGATGGCCGCTAAACCATCCATGATGGGttt > 2:458326/1‑149 (MQ=255) tAAAAATCAGGCTTGCCGATACCA‑‑CCGCAGTATGTCCCAGCAGCAACGCCGGATAAAGGCCAAACAGGGACGCCTGACAGCCGAACTTCACCTGTAAACGACGACGAGCCTGCTGAGCAATGGGAGGTAAAACATCCATGGTgggctca > 2:47463/1‑145 (MQ=255) || AACAGATTTCCACGATGCACGGCGACCGCCATCGCCACGAAGAAGCCGATGGTGGCAAGATCGCCAAACGGCAGCACCTGATTACCCGGCACACAAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCACCCCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGCCTGTAAACGACTACGAGCCTGCTTAGCGATGGGCGTTAAACCATCCATGATGGGTTTA > NC_000913_3_hsa_tpiA/2173216‑2173487 |
| 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: ‑ |