| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | NC_000913_3_hsa_pgi | 3,440,084:1 | +G | 65.2% | coding (946/990 nt) | rpoA ← | RNA polymerase, alpha subunit |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913_3_hsa_pgi | 3,440,084 | 1 | . | G | 65.2% | 71.5 / 57.6 | 46 | coding (946/990 nt) | rpoA | RNA polymerase, alpha subunit |
| Reads supporting (aligned to +/- strand): ref base . (6/10); new base G (15/15); total (21/25) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 5.38e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.41e-01 | |||||||||||
GGAACATAGCCTGGCGATGGCTGCTGTTGCGGTTCAGTTGACGACCACTCTTACGATGGCGCATGACCTTATCCTTCTCAGTAAAACCTTAACCTGTGATCCGGTTACTCGTCAGCGATGCTTGCCGGTGGCCAGTTTTCCAGGCGCA‑T‑GCCCAGAGACAGTCCACGGGAAGCCAGCACGTCTTTAATCTCAGTAAGAGATTTTTTACCAAGGTTAGGCGTTTTAAGGAGCTCAACCTCGGTACGCTGTACCAGATCACCGATATAGTGGATAGCTTCTGCTTTAA > NC_000913_3_hsa_pgi/3439936‑3440221 | ggAACACAGCCTGGCGAGGGATGCTGTTGCGGTTCAGTGGTCGACCACTCTTACGATGGCGCATGACCTTATCCTTCTCAGTAAAACCTTAACCTGTGATCCGGTTACTCGTCAGCGATGCTTGCCGGTGGCCAGTTTTCCAGGCGCA‑t < 2:331411/149‑1 (MQ=255) gAACATAGCCTGGCGATGGCTGCTGTTGCGGTTCAGTTGACGACCACTCTTACGATGGCGCATGACCTTATCCTTCTCAGTAAAACCTTAACCTGTGATCCGGTTACTCGTCAGCGCTGCTTGCCGGTGGCCAGTTTTCCAGGCGCA‑T‑g > 2:226420/1‑149 (MQ=255) tggCCGGGGGATGAGTGCTGTTGCTGTTCAGTTGACGACCACTCTTACGATGGCGCATGACCTTATCCTTCTCAGTAAAACCTTAACCTGTGATCCGATTACTCGTCAGGGATGCTTGCCGGTGGCCAGTTTTCCAGGCGCA‑T‑Ggccca < 2:290736/147‑3 (MQ=255) tAGCCTGGCGATGGCTGCTGTTGCGGTTCAGTTGACGACCACTCTTACGATGGCGCATGACCTTATCCTTCTCAGTAAAACCTTAACCTGTGATCCGGTTACTCGTCAGCGATGCTTGTCGGTGGCCAGTTTTCCAGGCGCA‑T‑ggccca < 1:308947/149‑6 (MQ=255) tGGCGATGGCTGCTGTTGCGGTTCAGTTGACGACCACTCTTACGATGGCGCCTGACCTTATCCTTCTCAGTAAAACCTTAACCTGTGATCCGGTTACTCGTCAGCGATACTTGCCGGTGCCCAGTTTTCCAGGCGCA‑TGGCCCCGAGAc > 2:98807/1‑149 (MQ=255) cggggacggCTGCTGTCGCGGTTGAGTTGACGACCACTCTTATGATGGCGCATGTCCTTATCCTTCTCAGTGAAACGTTAACCTGTCATCCGGTCACTCGTCAGCGATGCTTGCCGGTGGCCAGTTTTCCAGGCGCA‑T‑GCCCAGAGACa < 2:959/142‑1 (MQ=255) ggCGATGGCTGCTGTTGCGGTTCAGTTGACGTCCACTCTTACGATGGCGCATGACCTTCTCCTTCTCAGTAAAACCTTAACCTGTGATCCGGTTACTCGTCAGCGATGCTTGCCGGTGGCCAGTTTTCCAGGCGCA‑TGGCCCAGAGACa < 2:434868/149‑1 (MQ=255) gcggATGGCGGCTGTTGCGCGTCAGCTGACGCGCACTCTTGCGATGGCGCATGTGCTTATCCTTCTCAGTAAAACCTTAACCTGTGATCCGGTTACTCGTCAGCGATGCTTTCCGGTGGCCAGTTTTCCAGGCGCA‑TGGCCCAGAGACa < 2:260183/146‑1 (MQ=255) gctgctGTTGCGGTTCAGTTGACGACCACTCTTACGATGGCGCATGACCTTATCCTTCTCAGTAAAACCTTAACCTGTGATCCGGTTACTCGTCAGCGATGCTTGCCGGTGGCCAGTTTTCCAGGCGCA‑TGGCCCAGAGACAGTCCACg > 1:247855/1‑149 (MQ=255) tgTTGCGGTTCAGTTGACGACCACTCTTACGATGGCGCATGACCTTATCCTTCTCAGTAAAACCTTAACCTGTGATCCGGTTACTCGTCAGCGATGCTTGCCGGTGGCCAGTTTTCCAGGCGCC‑TGGCCCAGAGCCAGTCCACGGGAAg > 2:60973/1‑149 (MQ=255) ttGCGGTTCAGTTGACGACCACTCTTACGATGGCGCATGAACTTATCCTTCTCAGTAAACCCTTAACCTGTGATCCGCTTACTCGTCAGCGACGCTTGTCGGTGGCCAGTTTTCCACGCGCC‑TGGCCTGGAGCCAGTCCACGGTCAGcc > 2:395646/1‑149 (MQ=255) tGCGGTTCAGTTGACGACCACTCTTACGATGGCGCCTGTCCTTATCCTTCTCAGTAAAACCTTAACCTGTGATCCGGTTACTCGTGAGCGATGCTTGCCGGTGGCAAGTTTTCCATGCGCA‑T‑GCCCAGAGACAGTCCACGGGAAGCCAg < 1:186384/149‑1 (MQ=255) aGTTGACGACCACTCTTACGATGGCGCATGACTTTATCCTTCTCAGTAAAACCTTAACCTGTGATCCGGTTACTCGTCAGCGATGCTTGCCGGTGGCCAGTTTTCCAGGCGCA‑TGGCCCAGAGACAGTCCACGGGAAGCCAGCACGTCt < 2:649252/149‑1 (MQ=255) gTTGACGACCACTCGTACGATGGCGCATGACCTTATCCTTCTCAGTAAAACTCGAACCTGTCATCCGGTTACTCGTCAGCGATGCTTGCCGGTGGCCAGTTTTCCAGGCGCA‑TGGCCCAGAGACAGTCCACGGGAAGCCAGCACGTCtt < 2:455214/149‑1 (MQ=255) gacCACTCTTACGATGGCGCATGACCTTATCCTTCTCAGTAAAACCTTAACCTGTGATCCGGTTACTCGTCGGCGATGCTTGCCGGTGGCCAGTTTTCCAGGCGCA‑T‑GCCCAGAGACGGGCGCGGCGAAGCGGGCAGGTCTTTaagccc > 1:2016/1‑145 (MQ=255) gacCACTCTTACGATGGCGCATGACCTTATCCTTCTCAGTAAAACCTTAACCTGTGATCCGGTTACTCGTCAGCGATGCTTGCCGGTGGCCAGTTTTCCAGGCGCA‑TGGCCCAGAGACAGTCAACGGGAAGCCAGCACGTCTTTAAtct > 2:457298/1‑149 (MQ=255) tctTACGATGGCGCATGACCTTATCCTTCTCAGTAAAACCTTAACCTGTGATCCGGTTACTCGTCAGCGATGCTTGCCGGTGGCCAGTTTTCCAGGCGCA‑T‑GCCCAGAGACAGTCCACGGGAAGCCAGCACGTCTTTAATCTCAGTAag > 2:333860/1‑149 (MQ=255) tctTACGATGGCGCATGACCTTATCCTTCTCAGTAAAACCTTAACCTGTGACCCGGTTACTCGTCAGCGATGCTTGCCGATGGCCAGTTTTCCAGGACCA‑T‑CCCCAGCGAGCGACCACCGGAAACCACCAGCACTTTAATCTCacgcaa > 2:524251/1‑144 (MQ=255) ttACGATAGCGCATGACCCTATCGTTCTCAGTAAAACCTTAACCTGTGATCCGGTTACTCGTCAGCGATGCTTGCCGGGGGCCAGTTTTCCAGGCGAA‑TGGCCCAGAGACGATCCACGGGAAGCGAGCACGTCTTTAATCTCAGTAaga > 1:615777/1‑149 (MQ=255) ccTTATCCTTCTCAGTAAAACCTTAACCTGTGATCCGGTTACTCGTCAGCGATGCTTGCCGGTGGCCAGTTTTCCAGGCGCA‑TGGCCCAGAGACAGTCCACGGGAAGCCAGCACGTCTTTAATCTCAGTAAGAGATTTTTTACCAAGGt > 2:377651/1‑149 (MQ=255) ccTTATCCTTCTCAGTAAAACCTTAACCTGTGATCCGGTTACTCGTCAGCGATGCTTGCCGGTGGCCAGTTTTCCAGGCGCA‑T‑GCCCAGAGACAGTCCACGGGAAGCCAGCACGTCTTTAATCTCAGTAAGAGATTTTTTACCAAGGtt > 1:418147/1‑149 (MQ=255) atgcTTCTCAGTAAAACCTTAACCTGTGATACGGTCACTCGGTATCGATGCTTGCCGGTGGCCAGTTGTCCAGGCGCA‑T‑GCCCAGAGACAGTCCACGGGAAGCCAGCACGTCTTTAATCTCAGTAAGAGATTTTTTACCAAGGTTAGGc < 2:534463/146‑1 (MQ=255) ctcAGTAACACCTCAACCGGGGGTCCGGTTACTCGTCAGCGATGCTTGCCGGTGGCCAGTTTTCCAGGCGCA‑TGGCCCAGAGACAGTCCACGGGAAGCCAGCACGCCTTTAATCTAAGTAAGAGATTTTTTACAATGGTTAGGAGgttt > 2:412567/1‑149 (MQ=255) aGTAAAACCTTAACCTTGTCTCCGGTTACTCGTCAGCGATGCTTGCCGGTGGCCAGTTTTCCAGGCGCA‑TGGCCCAGAGACAGTCCACGGGAAGCCAGCACGTCTTTAATCTCAGAAAGAGATTTTTTACCAAGGTTAGGCGTTTTAAg < 2:541147/149‑1 (MQ=255) aGTAAAACCTTAACCTGTGATCCGGTTACTCGTCAGCGATGCTTGCCGGTGGCCAGTTTTCCAGGCGCA‑TGGCCCAGAGACAGTCCACGGGAAGCCAGCACGTCTTTAATCTCAGTAAGAGATTTTTTACCAAGGTTAGGCGTTTTAAg < 2:413457/149‑1 (MQ=255) gTAAAACCTTAACCTGTGATCCGGTTACTCGTCAGCGATGCTTGCCGGTGGCCAGTTTTCCAGGCGCA‑T‑GCCCAGAGACAGTCCACGGGAAGCCAGCACGTCTTTAATCTCAGTAAGAGATTTTTTACCAAGGTTAGGCGTTTTAAGGa < 2:10493/149‑1 (MQ=255) tcgaaCCTTAACCCGTGATCCGGTGACTCGTCAGCGATGCTTGCCGGTGGCCAGTTTTCCAGGCGCAGG‑GCCCAGAGACAGTCCCCCGGACGCTAGCACGTCTTTAATCTCAGTAAGAGATTTTTTACCAAGGTTAGGCGTTTTAAGGa < 1:416776/146‑1 (MQ=255) aaaCCTTAACCTGTGATCCGGTTACTCGTCAGCGATGCTTGCCGGTGGCCAGTTTTCCAGGCGCA‑T‑GCCCAGAGACAGTCCACGGGAAGCCAGCACGTCTTTAATCTCAGTAAGAGATTTTTTACCAAGGTTAGGCGTTTTACGGAggt > 2:586229/1‑147 (MQ=255) ccTTAACCTGTGATCCGGTTACTCGTCAGCGATGCTTGCCGGTGGCCAGTTTTCCAGGCGCA‑TGGCCCAGAGACAGTCCACGGGAAGCCAGCACGTCTTTAATCCCAGTAAGACATTTTTTACCAAGGGTAGGCGTTTTAAGGAGCTCa > 2:247816/1‑149 (MQ=255) ccggtgATCCGCTTACTCGTCAGCGATGCTTGCCGGTGGCCAGTTTTCCAGGCGCA‑TGGCCCAGAGACAGTCCACGGGAAGCCAGCACGTCTTTAATCTCAGTAAGAGATTTTTTACCAAGGTTAGGCGTTTTAAGGAGCTCAACCTCg < 1:402627/146‑1 (MQ=255) cTGTGATCCGGTTACTCGTCAGCGATGCTTGCCGGTGGCCAGTTTTCCAGGCGCA‑TGGCCCAGAGACCGTCCACGGGAAGCCCGCACGTCTTTAATCTCAGTAAGAGATTTTTTACCAAGGTTCGGCGTTTTAAGGAGCTCAACCTCgc > 2:319185/1‑148 (MQ=255) tgtgATCCGGTTACTCGTCAGCGATGCTTGCCGGTGGCCAGTTTTCCAGGCGCA‑T‑GCCCAGAGACAGTCCACGGGAAGCCAGCACGTCTTTAATCTCAGTAAGAGATTTTTTACGAAGGTTAGGGGTTTTGAGGCGCTCAACCTCGGTa > 1:501627/1‑149 (MQ=255) aTCCGGTTCCTCCTCAGCGATGCTTGCCGGTGGCCAGTTTTCCAGGCGCA‑T‑GCCCAGAGACAGTCCACGGGAAGCCAGCACGTCTTTAATCTCAGTAAGAGATTTTTTACCAAGGTTAGGCGTTTTAAGGAGCTCAACCTCGGTACGCt < 1:247008/149‑1 (MQ=255) cGGTTACTCGTCAGCGATGCTTGCCGGTGGCCAGTTTTCCAGGCGCA‑TGGCCCAGAGACAGTCCACGGGAAGCCAGCACGTCTTTAATCTCAGTAAGAGATTTTTTACCAAGGTTAGGCGTTTTAAGGAGCTCAACCTCGGTACGCTGt > 1:608928/1‑149 (MQ=255) cgTTACTCGGGTGCGATGCTGGCCGTTGGCCAGTTTTCCAGGCGCA‑TGGCCCAGAGACAGTCCACGGGAAGCCAGGACGTCTTTAATCTCAGTAAGAGTTTTTTTACCAAGGTTAGGCGTTTTAAGGAGCTCAACCTCGGTACGCTGTa < 2:19940/148‑1 (MQ=255) gTTACTCGTCAGCGATGCTTGCCGGTGGCCAGTTTTCCAGGCGCA‑TGGCCCAGAGACAGTCCACGGGAAGCCAGCACGTCTTTAATCTCAGTAAGAGATTTTTTACCAAGGTTAGGCGTTTTAAGGAGCTCAACCTCGGTACGCTGTAc > 1:524720/1‑149 (MQ=255) tACTCGTGAGCGATGGTTGCCGCGGGCCAGGTTTCCAGGCGCA‑TGGCCCAGAGACAGTCCACGGGAAGCCAGCACGTCTTTAATCTCAGTAAGAGATTTTTTACCAAGGTTAGGCGTTTTAAGGAGCTCAACCTCGGTACGCTGTACCa < 2:63841/149‑1 (MQ=255) cTCGTCGGCGATGCTTGCCGGTGGCCAGTTCTCCAGGCGCA‑T‑GCCCAGAGACAGTCCACGGGAAGCCAGCACCGCTTTCATCTCAGTAAGTGATTTTTTACCGAGGTTAGGCGTTTTAAGTAGCTCAACCTCGGTACGCTGTACCAGAt < 2:633124/149‑1 (MQ=255) tCAGCGATGCTTGCCGGTGGCCAGTTTTCCAGGCGCA‑TGGCCCAGAGACAGTCCACGGGAAGCCCGCACGTCTTTAATCTCAGTAAGAGATTTTTTACCAAGGTTAGGCGTATTAAGGAGCTCAACCTCGGTACGCTGTACCAGATCAc > 1:352018/1‑149 (MQ=255) tCAGCGATGCTTGCCGGTGGCCAGTTTTCCAGGCGCA‑TGGCCCAGAGACAGTCCACGGGAAGCCAGCCCGTCTTTAATCTCAGTAAGAGATTTTTTACCAAGGTTAGGCGTTTTAAGGGGCTCAACCTCGGTACGCTGTACACGATCAc > 1:357166/1‑149 (MQ=255) catagATGCTTGCCGGTCGCACGTTTTCCAGGCGCA‑TGGCCCAGGGACAGTCCACGGTAAGCCAGCACGTCTTTACTCTCATTAAGGTATTTTTTACAAAGGTTAGGCGTTTTAAGGGGCTCAACCTCGTTAAGCTGTAGCAGATCAcc < 2:212963/145‑1 (MQ=255) cAGCGATGCTTGCCGGTGGCGAGTTTTCCAGGCGCA‑TGGCCCAGAGACAGTCCAGGGGAAGCCAGCACGTCTTTAATCTCAGTAATAGATTTTTTACCAAGGTTAGGTGTTTTAAGGAGCTCAACCTCGGTACGCTGTACCAGATCAcc < 2:21229/149‑1 (MQ=255) gATGCTTGCCGGTGGCCAGTTTTCCAGGCGCA‑TGGCCCAGAGAAAGTCCACGGGAAGCCAGCACGTCTTTAATCTCAGCAAGCGATTTGTTACCAAGGTTAGGCGTTTTAAGGAGCTCACCCTCGGTACGCTGTACCAGATCCCCGata < 2:693/149‑1 (MQ=255) ggCCAGTTTGCCAGGCGCA‑T‑CCCCAGAGTCGGTCCACGGGAAGCCCGAACGTCTTTAATCTCAGTAAGCGATTTTTTACCACGGTTAGGCGTTTTAAGGAGCTCAACCTCGGTACGCTGTACCAGATCACCGATATAGTGGATAGCTTc < 1:255085/149‑1 (MQ=255) gCCAGTTTTCCAGGCGGA‑TGGCCCAGAGACAGTCCACGGGAAGCCAGCACGTCTTTAATCTCAGTAAGAGATTTTTTACCAATGTTAGGCGTTTTAAGGAGCTCAACCTCGGTACGCTGTACCAGATCACCGATATAGTGGATAGCTTc < 2:512349/149‑1 (MQ=255) ccAGTTTTCCAGGCGCA‑TGGCCCAGAGACAGTCCACGGGAAGCCAGCACGTCTTTAATCTCAGTAAGAGATTTTTTACCAAGGTTAGGCGTTTTAAGGAGCTCAACCTCGGTACGCTGTACCAGATCACCGATATAGTGGATAGCTTCt > 1:603693/1‑149 (MQ=255) ttCCAGGCGCA‑T‑GCCCAGAGACAGTCCACGGGAAGCCAGCACGCCTCACCTTTCGAGGAGAGATTTTTTACCAAGGTTAGGCGTTTTAAGGAGCTCAACCTCGGTACGCTGTACCAGATCACCGATATAGTGGATAGCTTCTGCTTTaa < 1:519937/149‑1 (MQ=255) tCCAGGCGCA‑TGGCCCAGAGACAGTCCACGGGAAGCCAGCACGTCTTTAATCTCAGTAAGAGATTTTTTACCAAGGTTAGGCGTTTTAAGGAGCTCAACCTCGGTACGCTGTACCAGATCACCGATATAGTGGATAGCTTCTGCTTTaa < 1:480447/149‑1 (MQ=255) gccAGGCGCA‑TGGCCCAGAGACAGTCCACGGGAAGCCAGCACGTCTTTAATCTCAGTAAGAGATTTTTTACCAAGGTTAGGCGTTTTAAGGAGCTCAACCTCGGTACGCTGTACCAGATCACCGATATAGTGGATAGCTTCTGCTTTaa < 1:60973/148‑1 (MQ=255) | GGAACATAGCCTGGCGATGGCTGCTGTTGCGGTTCAGTTGACGACCACTCTTACGATGGCGCATGACCTTATCCTTCTCAGTAAAACCTTAACCTGTGATCCGGTTACTCGTCAGCGATGCTTGCCGGTGGCCAGTTTTCCAGGCGCA‑T‑GCCCAGAGACAGTCCACGGGAAGCCAGCACGTCTTTAATCTCAGTAAGAGATTTTTTACCAAGGTTAGGCGTTTTAAGGAGCTCAACCTCGGTACGCTGTACCAGATCACCGATATAGTGGATAGCTTCTGCTTTAA > NC_000913_3_hsa_pgi/3439936‑3440221 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 8 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 22 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |