| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | NC_000913_3_hsa_tpiA | 4,326,070 | T→G | 6.8% | intergenic (‑347/+311) | yjdN ← / ← yjdM | metalloprotein superfamily protein/zinc‑ribbon family protein |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913_3_hsa_tpiA | 4,326,070 | 0 | T | G | 6.8% | 122.0 / 2.6 | 54 | intergenic (‑347/+311) | yjdN/yjdM | metalloprotein superfamily protein/zinc‑ribbon family protein |
| Reads supporting (aligned to +/- strand): ref base T (24/26); new base G (2/2); total (26/28) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 8.65e-01 | |||||||||||
GTCGGCACCATTGCCGGATGCGGCGTAAACGCCTTATCCGGCCTACGGAGGGTGCGGGAATTTGTAGGCCTGATAAGACGCGCAAGCGTCGCATCAGGCAGTCGGCACCGTTGCCGGATGCGGCGTAAACGCCTTATCCGGCCTACGGATGGTGCGGGAATTTGTAGGCCTGATAAGACGCGCAAGCGTCGCATCAGGCAGTTGGCACTGTTGCCGGATGCGGCGTAAACGCCTTATCCGGCCTACGGAGGGTGCGGGAATTTGTAGGCCTGATAAGACGCGCAAGCGTCGCATCAG > NC_000913_3_hsa_tpiA/4325921‑4326217 | gccGGCACCATTGCCGGATGCGGCGTAAACGCCTTATCCGGCCTACGGAGGGTGCGGGAATGTGTAGGCCTGATAAGACGCGCAAGCGTCGCATCAGGCAGTCGGCACCGTTGCCGGATGCGGCGTAAACGCCTTATCCGGCCTACGGAt < 2:505037/148‑1 (MQ=25) gCACCATTGCCGGATGCGGCGTAAACGCCTTATCCGGCCTACGGAGGGTGCGGGAATTTGTAGGCCTGATAAGACGCGCAAGCGTCGCATCAGGCAGTCGGCACCGTTGCCGGATGCGGCGTAAACGCCTTATCCGGCCTACGGAGGGTg > 1:293178/1‑150 (MQ=14) aCCATTGCCGGATGCGGCGTAAACGCCTTATCCGGCCTACGGAGGGTGCGGGAATTTGTAGGCCTGATAAGACGCGCAAGCGTCGCATCAGGCAGTCGGCACCGTTGCCGGATGCGGCGTACACGCCTTATCCGGCCTACGGATGGTGCg < 1:432205/150‑1 (MQ=25) tttatGCCAGATGCGGCGTAAACGCCTTATCCGGCCTACGGAGGGTGCGGGAATTTGTAGGCCTGATAAGACGCGCAAGCGTCGCATCAGGCAGTCGGCACCGTTGCCGGATGCGGCGTAAACGCCTTATCCGGCCTACGGATGGTGCgg < 1:325370/146‑1 (MQ=12) tttatGCCAGATGCGGCGTAAACGCCTTATCCGGCCTACGGAGGGTGCGGGAATTTGTAGGCCTGATAAGACGCGCAAGCGTCGCATCAGGCAGTCGGCACCGTTGAACGATGCCGCGTAAACGCCTTATCCGGCCTACGGATGGTGCgg < 3:86426/146‑1 (MQ=11) tagtgtcGGATGCGGGGTAAGCGCCATGTACGGCTTAAGGAGGGTGCGGGAATTGGTAGGCCTGATAAGACGCGCAAGCGTCGCATCAGGCAGTCGGCACCGTTGCCGGATGCGGCGTAAACGCCTTATCCGGCCTACGGATGGTGCggg < 4:203095/144‑1 (MQ=11) gCCGGATGCGGCGTAAACGCCTTATCCGGCCTACGGAGGGTGCGGGAATTTGTAGGCCTGATAAGACGCGCTAGCGTCGCATCAGGCAGTCGGCACCGTTGCCGGATGCGGCGTAAACGCCTTATCCGGCCTACGGATGGTGCGGGAAtt < 2:395437/150‑1 (MQ=17) ccGGATGCGGCGTAAACGCCTTATCCGGCCTACGGAGGGTGCGGGAATTTGTAGGCCTGATAAGACGCGCAAGCGTCGCATCAGGCAGTCGGCACCGTTGCCGGATGCGGCGTAAACGCCTTATCCGGCCTACGGATGGTGCGGGAAttt < 1:134170/150‑1 (MQ=32) gcggcgTAAACGCCTTATCCGGCCTACGGAGGGTGCGGGAATTTGTAGGCCTGATAAGACGCGCAAGCGTCGCATCAGGCAGTCGGCACCGTTGCCGGATGCGGCGTAAACGCCTTATCCGGCCTACGGATGGTGCGGGAATTTGTAGGc > 1:520206/1‑150 (MQ=32) aCGCGTTATGCGGCCTACGGGGGGTGCGGGAATTTGTCGGCCTGATAAGACGCGCGAGCGTCGCATCAGGCAGTCGGCACCGTTGCCGGATGCGGCGTATACGCCTTATCCGGCCTACGGATGGCGCGGGAATTTGTAGGCCTGATAAGa < 2:565519/150‑1 (MQ=11) aCGCCTTGTCCGGCATACGGAGGGTGCGGGAAATTGTAGGCCTGATAAGACGCGCAAGCGTCGCATCAGGCAGTCGGCACCGTTGCCGGATGCGGCGTAAACGCCTTATCCGGCCTACGGATGGTGCGGGAATTTGTAGGCCTGATAAGa < 2:90070/150‑1 (MQ=12) cGCCTTATCCGGCCTACGGATGGTGCGGGAATTTGTAGGCCTGATAAGACGCGCAAGCGTCGCATCAGGCAGTCGGCACCGTTGCCGGATGCGGCGTAAACGCCTTATCCGGCCTACGGATGGTGCGGGAATCAGTACGCCTGATAAAAc > 4:248817/1‑150 (MQ=11) ttATCCGGCCTACGGAGGGTGCGGGAATTTGTAGGCCTGATAAGACGCGCAAGCGTCGCATTAGGCAGTCGGCACCGTTGCCGGATGCGGCGTAAGCGCCTTATCCGGCCTACGGATGGTGCGGGAATCTGTAGGCCTGCGAATACgcgc > 1:60913/1‑150 (MQ=11) cGGCCTACGGAGGGTGCGGGAATTTGTAGGCCTGATAAGACGCGCAAGCGTCGCATCAGGCAGTCGGCACCGTTGCCGGATGCGGCGCAAGCGCCTTATCCGGCCTACGGATGGCGCGGGGGATGGGCGGCCTGATGGGAAGCGCGAGCg > 2:361549/1‑150 (MQ=11) ggCCTACGGAGGGTGCGGGAATTTGTAGGCCTGATAAGACGCGCAAGCGTCGCATCAGGCAGTCGGCACCGTTGCCGGATGCGGCGTAAACGCCTTATCCGGCCTACGGATGGTGCGGGAATTTGTAGGCCTGATAAGACGCGCAAGCGt > 1:354823/1‑150 (MQ=32) ggCCTACGGAGGGTGCGGGAATTTGTAGGCCTGATAAGACGCGCAAGCGTCGCATCAGGCAGTCGGCACCGTTGCCGGATGCGGCGTAAACGCCTTATCCGGCCTACGGATGGTGCGGGAATTTGTAGGCCTGATAAGACGCGCAAGCGt < 4:142275/150‑1 (MQ=32) gtgcaCGGAGGGTGCAGGAGAGTGGAGGCCTGATAAGACGCGCGAGCGTCGCATCAGGCAGTCGGCACAGTTGCCGGATGCGGCGTAAACGCCTTATCCGGCCTACGGATGGTGCGGGAATTTGTAGGCCTGATAAGACGCGCAAGCGTc < 4:382293/146‑1 (MQ=11) cggcGGAGGGTGCGGGTGTGTGGAGGCCTGATAAGACGCGCAAGCGTCGCATCAGGCAGTCGGCACCGTTGCCGGATGCGGCGTAATCGCCTTATCCGGCCTACGGATGGTGCGGGAATTTGTAGGCCTGATAAGACGCGCAAGCGTCGc < 1:514023/147‑1 (MQ=11) ggTGCGGGAATTTGTAGGCCTGATAAGACGCGCAAGCGTCGCATCAGGCAGTCGGCACCGTTGCCGGATGCGGCGTAAACGCCTTATCCGGCCTACGGATGGTGCGGGAATTTGTAGGCCTGATAAGACGCGCAAGCGTCGCATCAGGCa < 4:315655/150‑1 (MQ=32) cGGGAGTTTGTAGGCCTGATAAGACGCGCAAGCGTCACATCAGGCAGTCGGCACCGTTGCCGGATGCGGCGTAAACGCCTTATCCGGCCTACGGATGGTGCGGGAATTTGTAGGCCTGATAAGACGCGCAAGCGTCGCATCAGGCAGTTg < 2:22523/150‑1 (MQ=25) cGGGAATTTGTAGGCCTGATAAGACGCGCAAGCGTCGCATCAGGCAGTCGGCACCGTTGCCGGATGCGGCGTAAACGCCTTATCCGGCCTACGGATGGTGCGGGAATTTGTa > 2:94884/1‑112 (MQ=32) gggAATTTGTAGGCCTGATAAGACGCGCAAGCGTCGCATCAGGCAGTCGGCACCGTTGCCGGATGCGGCGTAAACGCCTTATCCGGCCTACGGATGGTGCGGGAATTTGTAGGCCTGATAAGACGCGCAAGCGTCGCATCAGGCAGTTgg > 2:225479/1‑150 (MQ=35) gAATTTGTAGGCCTGATAAGACGCGCAAGCGTCGCATCAGGCAGTCGGCACCGTTGCCGGATGCGGCGTAAACGCCTTATCCGGCCTACGGATGGTGCGGGAATTTGTAGGCCTGATAAGACGCGCAAGCGTCGCATCAGGCAGTTGGCa > 1:465439/1‑150 (MQ=37) aTTTGTAGGCCTGATAAGACGCGCAAGCGTCGCATCAGGCAGTCGGCACCGTTGCCGGATGCGGCGTAAACGCCTTATCCGGCCTACGGATGGTGCGGGAATTTGTAGGCCTGATAAGACGCGCAAGCGTCGCATCAGGCAGTTGGCAcc > 1:269417/1‑149 (MQ=25) tAGGCCTGATAAGACGCGCAAGCGTCGCATCAGGCAGTCGGCACCGTTGCCGGATGCGGCGTAAACGCCTTATCCGGTCTACGGATGGTGCGGGAATTTGTAGGCCTGATAAGACGCGCAAGCGTCGCATCAGGCAGTTGGCACTGTTGc < 1:242072/150‑1 (MQ=255) gCCTGATAAGACGCGCAAGCGTCGCATCAGGCAGTCGGCACCGTTGCCGGATGCGGCGTAAACGCCTTATCCGGCCTACGGATGGTGCGGGAATTTGTAGGc < 1:350642/102‑1 (MQ=33) gCCTGATAAGACGCGCAAGCGTCGCATCAGGCAGTCGGCACCGTTGCCGGATGCGGCGTAAACGCCTTATCCGGCCTACGGATGGTGCGGGAATTTGTAGGc > 2:350642/1‑102 (MQ=32) ccTGATAAGACGCGCAAGCGTCGCATCAGGCAGCCGGCACCGTTGCCGGATGCGGCGTAAACGCCTTATCCGGCCTACGGATGGTGCGGGGATGTGTAGGCCTGAGGAGACGCGCAAGCGTCGCAACAGGCAGCTGGCACGGTTGCCGGa > 2:137198/1‑150 (MQ=11) tGATAAGACGCGCAAGCGTCGCATCAGGCAGTCGGCACCGTTGCCGGATGCGGCGTAAACGCCTTATCCGGCCTACGGATGGTGCGGGAATTTGTAGGCCTGATAAGACGCGCAAGCGTCGCATCAGGCAGTTGGCACTGTTGCCGGATg < 2:527410/150‑1 (MQ=40) aTAAGACGCGCAAGCGTCGCATCAGGCAGTCGGCACCGTTGCCGGATGCGGCGTAAACGCCTTATCCGGCCTACGGATGGTGCGGGAATTTGTa < 3:41427/94‑1 (MQ=34) aTAAGACGCGCAAGCGTCGCATCAGGCAGTCGGCACCGTTGCCGGATGCGGCGTAAACGCCTTATCCGGCCTACGGATGGTGCGGGAATTTGTAGGCCTGAGAAGACGCGCAAGCGTCGCGTCAGGCAGTTGGCACCGGTGCCGGATgcg > 2:323775/1‑150 (MQ=255) tAAGACGCGCGAGCGTCGCATCAGGCAGTCGGCACCGTTGCCGGATGCGGCGTAAACGCCTTATCCGGCCTACGGATGGTGCGGGAATTTGTAGGCCTGATAAGACGCGCAAGCGTCGCATCAGGCAGTTGGCACTGTTGCCGGATgcgg < 1:574403/150‑1 (MQ=255) aCGCGCAAGCGTCGCATCAGGCAGTCGGCACCGTTGCCGGATGCGGCGTAAACGCCTTATCCGGCCTACGGAGGGTGCGGGAATTTGTAGGCCTGATAAGACGCGCAAGCGTCGCATCAGGCAGTTGGCACTGTTGCCGGATGCGGCGTa < 4:10835/150‑1 (MQ=25) gcgcATGCGACGCCTCAGCGGGTCGGCGCTGTTGTCGGATAAGGCGTGACCGCTTTGTGCAGCCCACGGATGGTGCGGGAGAGTGTAGGCCTGATAAGACGCGCAAGCGTCGCATCAGGCAGTTGGCACTGTTGCCGGATGCGGCGTaaa < 2:408867/150‑1 (MQ=2) gTCGCATCAGGCAGTCGGCACCGTTGCCGGATGCGGCGTAAACGCCTTATCCGGCCTACGGATGGTGCGGGAATTTGTAGGCCTGATAAGACGCGCAAGCGTCGCATCAGGCAGTTGGCACTGTTGCCGGATGCGGCGTAAACGCCTTAt > 1:351020/1‑150 (MQ=255) tCGCATCAGGCAGTCGGCACCGTTGCCGGATGCGGCGTAAACGCCTTATCCGGCCTACGGATGGTGCGGGAATTTGTAGGc < 1:567405/81‑1 (MQ=35) ctCAGGCAGTCGGCACCGTTGCCGGATGCGGCGTAAACGCCTTATCCGGCCTACGGATGGTGCGGGAATTTGTAGGCCTGATAAGACGCGCAAGCGTCGCATCAGGCAGTTGGCACTGTTGCCGGATGCGGCGTAAACGCCTTATCCGGc < 1:199295/149‑1 (MQ=255) tCAGGCAGTCGGCACCGTTGCCGGATGCGGCGTAAACGCCTTATCCGGCCTACGGATGGTGCGGGAATTTGTAGGCCTGATAAGACGCGCAAGCGTCGCATCAgg > 1:122521/1‑105 (MQ=32) gCAGTCGGCACCGTTGCCGGATGCGGCGTAAACGCCTTATCCGGCCTACGGATGGTGCGGGAATTTGTAGGCCTGATAAGACGCGCAAGCGTCGCATCAGGCa < 3:322984/103‑1 (MQ=32) tCGGCACCGTTGCCGGATGCGGCGTAAACGCCTTATCCGGCCTCGGGAGGGTGCGGGGTTTTGAAGGCGTGATAACATGCGCATAGGTCTCGGTGGGCACCGGGCCATGTTACCGGAAGCGGCGTAAACGCCTTATCCGGCCTAGGGAgg > 2:156173/1‑150 (MQ=2) tCGGCACCGTTGCCGGATGCGGCGTAAACGCCTTATCCGGCCTACGGATGGTGCGGGAATTTGTAGGCCTGATAAGACGCGCAAGCGTCGCATCAGGCAGTTGGCACTGTTNCCGGATGCGGCGNAAACGCCTTATCCGGCCTACGGAgg < 3:212166/150‑1 (MQ=255) gCACCGTTGCCGGATGCGGCGTAAACGCCTTATCCGGCCTACGGATGGTGCGGGAATTTGTAGGCCTGATAAGACGCGCAAGCGTCGCATCAGGCAGTTGGCACTGTTGCCGGa > 2:350595/1‑114 (MQ=255) gCACCGTTGCCGGATGCGGCGTAAACGCCTTATCCGGCCTACGGATGGTGCGGGAATTTGTAGGCCTGATAAGACGCGCAAGCGTCGCATCAGGCAGTTGGCACTGTTGCCGGa < 1:350595/114‑1 (MQ=255) ccGTTGCCGGATGCGGCGTAAACGCCTTATCCGGCCTACGGATGGTGCGGGAATTTGTAGGCCTGATAAGACGCGCAAGCGTCGCATCAGGCAGTTGGCACTGTTGCCGGATGCGGCGCAAACGCCTTATCCGGCCTACGGAGGGTGCgg > 2:251634/1‑150 (MQ=38) aaCGCCTTATCCGGCCTACGGATGGTGCGGGAATTTGTAGGCCTGATAAGACGCGCAAGCGTCGCATCAGGCAGTTGGCACTGTTGCCGGATGCGGCGTAAACGCCTTATCCGGCCTACGGAGGGTGCGGGAATTTGTAGGCCTGATAAg < 1:225479/150‑1 (MQ=38) cGCCTTATCCGGCCTACGGATGGTGCGGGAATTTGTAGGCCTGATAAGACGCGCAAGCGTCGCATCAGGCAGTTGGCACTGTTGCCGGATGCGGCGTAAACGCCTTATCCGGCCTACGGAGGGTGCGGGAATTTGTAGGCCTGATAAGAc > 4:178036/1‑150 (MQ=38) tATCCGGCCTACGGATGGTGCGGGAATTTGTAGGCCTGATAAGACGCGCAAGCGTCGCATCAGGCAGTTGGCACTGTTGCCGGATGCGGCGTAAACGCCTTATCCGGCCTACGGAGGGTGCGGGAATTTGTAGGCCTGATAAGACGCGCa > 4:86964/1‑150 (MQ=38) tCCGGCCTACGGATGGTGCGGGAATTTGTAGGCCTGATAAGACGCGCAAGCGTCGCATCAGGCAGTTGGCACTGTTGCCGGATGCGGCGTAAACGCCTTATCCGGCCTACGGAGGGTGCGGGAATTTGTAGGCCTGATAAGACGCGCAAg > 4:323757/1‑150 (MQ=38) ccGGCCTACGGAGGGTGCGGGAATTTGTAGGCCTGATAAGACGCGCAAGCGTCGCATCAGGCAGTTGGCACTGTTGCCGGATGCGGCGTAAACGCCTTATCCGGCCTACGGAGGGTGCGGGAATTTGTAGGCCTGATAAGACGCGCAAGc < 4:230047/150‑1 (MQ=17) cGGCCTACGGATGGTGCGGGAATTTGTAGGCCTGATAAGACGCGCAAGCGTCGCATCAGGCAGTTGGCACCGTTGCCGGATGCGGCGCAAACGCCTTATCCGGCCTACGGAGGGCGCGGGGATGTGTAGGCCTGATAAGACGCGCGAGCg > 2:553786/1‑150 (MQ=11) ggCCTACGGATGGTGCGGGAATTTGTAGGCCTGATAAGACGCGCAAGCGTCGCATCAGGCAGTTGGCACCGTTGCCGGATGCGGCGCGAACGCCTTATCCGGCCTACCGAGGGCGCGGCAATTTGTACGCCTTCTAAGACTCGCAAGccg > 4:208162/1‑148 (MQ=11) gCCTACGGATGGTGCGGGAATTTGTAGGCCTGATAAGACGCGCAAGCGTCGCATCAGGCAGTTGGCACTGTTGCCGGATGCGGCGTAAACGCCTTATCCGGCCTACGGAGGGTGCGGGAATTTGTAGGCCTGATAAGACGCGCAAGCGTc < 2:351020/150‑1 (MQ=38) tACGGATGGTGCGGGAATTTGTAGGCCTGATAAGACGCGCAAGCGTCGCATCAGGCAGTTGGCACTGTTGCCGGATGCGGCGTAAACGCCTTATCCGGCCTACGGAGGGTGCGGGAATTTGTAGGCCTGATAAGACGCGCAAGCGTCGCa > 1:7244/1‑150 (MQ=39) gATGGTGCGGGAATTTGTAGGCCTGATAAGACGCGCAAGCGTCGCATCAGGCAGTTGGCACTGTTGCCGGATGCGGCGCAAACGCCTTATCCGGCCTACGGAGGGTGCGGGAATTTGTACTCCTGCTCAGACGCGCAAGCGTCGCacctg > 2:390169/1‑146 (MQ=11) gATGGTGCGGGAATTTGTAGGCCTGATAAGACGCGCAAGCGTCGCATCAGGCAGTTGGCACCGTTGCCGGATGCGGCGTAAACGCCTTATCCGGCCTACGGAGGGTGCGGGGGTTGGTAGGCCTGATAAGACGCGCAAGCGTCGCATCAg > 2:274287/1‑150 (MQ=255) | GTCGGCACCATTGCCGGATGCGGCGTAAACGCCTTATCCGGCCTACGGAGGGTGCGGGAATTTGTAGGCCTGATAAGACGCGCAAGCGTCGCATCAGGCAGTCGGCACCGTTGCCGGATGCGGCGTAAACGCCTTATCCGGCCTACGGATGGTGCGGGAATTTGTAGGCCTGATAAGACGCGCAAGCGTCGCATCAGGCAGTTGGCACTGTTGCCGGATGCGGCGTAAACGCCTTATCCGGCCTACGGAGGGTGCGGGAATTTGTAGGCCTGATAAGACGCGCAAGCGTCGCATCAG > NC_000913_3_hsa_tpiA/4325921‑4326217 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 13 ≤ ATCG/ATCG < 37 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |