| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | NC_002947 | 3,789,805 | G→C | 14.3% | L289L (CTG→CTC) | atsA → | arylsulfatase |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_002947 | 3,789,805 | 0 | G | C | 14.3% | 90.2 / 9.2 | 35 | L289L (CTG→CTC) | atsA | arylsulfatase |
| Reads supporting (aligned to +/- strand): ref base G (12/18); new base C (2/3); total (14/21) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 5.44e-01 | |||||||||||
GCGCAGTACCGAGGCCGCTACGACCAAGGCTACGAAGTCATCGCCCACGAACGCCTGAAGCGCCAACGCGAAGCCGGCCTGGTGCCCGCCGACTTCTCTCTGCAAGCACAACTGGAAGGTGTGCCGAGCTGGGCATCGCTGAGCGATGAACAAAAACGCCAGTCCGCACGCACCATGGAGGTGTATGCGGCCATGGTCACGGCGCTGGACGCCGAGGTGGGGCGCCTGGTGGAACACCTACGCAAGACCGGCGAGCTGGAAAACACGATGATCCTGTTCATG > NC_002947/3789665‑3789946 | gcgcAGTACCGAGGCCGCTACGACCAAGGCTACGAAGTCATCGCCCACGAACGCCTGAAGCGCCAACGCGAAGCCGGCCTGGTGCCCGCCGACTTCTCTCTGCAAGCACAACTGGAAGGTGTGCCGAGCTGGGCATCGCTGAGCGATGaa < 1:350866/150‑1 (MQ=255)gcgcAGTACCGAGGCCGCTACGACCAAGGCTACGAAGTCATCGCCCACGAACGCCTGAAGCGCCAACGCGAAGCCGGCCTGGTGCCCGCCGACTTCTCTCTGCAAGCACAACTGGAAGGTGTGCCGAGCTGGGCATCGCTCAGCGATgcc < 2:117547/150‑3 (MQ=255) cGAGGCCGCTACGACCAAGGCTACGAAGTCATCGCCCACGAACGCCTGAAGCGCCAACGCGAAGCCGGCCTGGTGCCCGCCGACTTCTCTCTGCAAGCACAACTGGAAGGTGTGCCGAGCTGGGCATCGCTGAGCGATGAACAAAAACGc < 2:338278/150‑1 (MQ=255) gCCGCTACGACCAAGGCTACGAAGTCATCGCCCACGAACGCCTGAAGCCCCAACGCGAAGCCGGCCTGGTGCCCGCCGACTTCTCTCTGCAAGCACAACTGGAAGGTGTGCCGAGCTGGGCATCGCTGAGCGATGAACAAAAACGCCAGt < 2:413286/150‑1 (MQ=255) cTACGACCAAGGCTACGAAGTCATCGCCCACGAACGCCTGAAGCGCCAACGCGAAGCCGGCCTGGTGCCCGCCGACTTCTCTCTGCAAGCACAACTGGAAGGTGTGCCGAGCTGGGCATCGCTGAGCGATGAACAAAAACGCCAGTCcgc > 2:583992/1‑150 (MQ=255) ccAAGGCTACGAAGTCATCGCCCACGAACGCCTGAAGCGCCAACGCGAAGCCGGCCTGGTGCCCGCCGACTTCTCTCTGCAAGCACAACTGGAAGGTGTGCCGAGCTGGGCATCGCTGAGCGATGAACAAAAACGCCAGTCCgcacgcac < 2:270021/150‑1 (MQ=255) aaGGCTACGAAGTCATCGCCCACGAACGCCTGAAGCGCCAACGCGAAGCCGGCCTGGTGCCCGCCGACTTCTCTCTGCAAGCACAACTGGAAGGTGTGCCGAGCTGGGAATCGCTGAGCGATGAACAAAAACGCCAGTCCGCACGCACCa > 1:382001/1‑150 (MQ=255) tACGAAGTCATCGCCCACGAACGCCTGAAGCGCCAACGCGAAGCCGGCCTGGTGCCCGCCGACTTCTCTCTGCAAGCACAACTGGAAGGTGTGCCGCGCTGGGCAGCGCTGAGCGATGAACAAAAACGCCAGTCCGCACGCACCATGGAg < 2:394744/150‑1 (MQ=255) tACGAAGTCATCGCCCACGAACGCCTGAAGCGCCAACGCGAAGCCGGCCTGGTGCCCGCCGACTTCTCTCTGCAAGCACAACTGGAAGGTGTGCCGAGCTGGGCATCGCTGAGCGATGAACAAAAACGCCAGTCCGCACGCACCATGGAg < 1:583992/150‑1 (MQ=255) aaGTCATCGCCCACGAACGCCTGAAGCGCCAACGCGAAGCCGGCCTGGTGCCCGCCGACTTCTCTCTGCAAGCACAACTGGAAGGTGTGCCGAGCTGGGCATCGCTGAGCGATGAACAAAAACGCCAGTCCGCACGCACCATGGAGgtgt < 2:462794/150‑1 (MQ=255) aTCGCCCACGAACGCCTGAAGCGCCAACGCGAAGCCGGCCTGGTGCCCGCCGACTTCTCTCTGCAAGCACAACTGGAAGGTGTGCCGAGCTGGGCATCGCTGAGCGATGAACAAAAACGCCAGTCCGCACGCACCATGGAGGTGTATGCg < 2:495611/150‑1 (MQ=255) ccACGAACGCCTGAAGCGACAACGCGAAGGCGGCCTGGTGCCCGCCGACTTCTCTCTGCAAGCACAACTGGAAGGTGTGCCGAGCTGGGCATCGCTGAGCGATGAACAAAAACGCCAGTCCGCACGCACCATGGAGGTGTATGCGGCCAt > 1:110588/1‑150 (MQ=255) aCGAACGCCTGAAGCGCCAACGCGAAGCCGGCCTGGTGCCCGCCGACTTCTCTCTGCAAGCACAACTGGAAGGTGTGCCGAGCTGGGCATCGCTGAGc < 1:433924/98‑1 (MQ=255) aCGAACGCCTGAAGCGCCAACGCGAAGCCGGCCTGGTGCCCGCCGACTTCTCTCTGCAAGCACAACTGGAAGGTGTGCCGAGCTGGGCATCGCTGAGc > 2:433924/1‑98 (MQ=255) aCGAACGCCTGAAGCGCCAACGCGAAGCCGGCCTGGTGCCCGCCGACTTCTCTCTGCAAGCACAACTGGAAGGTGTGCCGAGCTGGGCATCGCTGAGCTATGAACAAAAACGCCAGTCCGCACGCACCATGGAGGTGTATGCGGCCATgg < 1:201252/150‑1 (MQ=255) gAACGCCTGAAGCGCCAACGCGAAGCCGGCCTGGTGCCCGCCGACTTCTCTCTGCAAGCACAACTGGAAGGTGTGCCGAGCTGGGCATCGCTCAGCGATgc < 1:81760/101‑2 (MQ=255) gAACGCCTGAAGCGCCAACGCGAAGCCGGCCTGGTGCCCGCCGACTTCTCTCTGCAAGCACAACTGGAAGGTGTGCCGAGCTGGGCATCGCTCAGCGATgc > 2:81760/1‑100 (MQ=255) cAACGCGAAGCCGGCCTGGTGCCCGCCGACTTCTCTCTGCAAGCACAACTGGAAGGTGTGCCGAGCTGGGCATCGCTGAGCGATGAACAAAAACGCCAGTCCGCACGCACCATGGAGGTGTATGCGGCCATGGTCACGGCGCTGGACGcc > 1:415420/1‑150 (MQ=255) gAAGCCGGCCTGGTGCCCGCCGACTTCTCTCTGCAAGCACAACTGGAAGGTGTGCCGAGCTGGGCATCGCTGAGCGATGAACAAAAACGCCAGTCCGCACGCACCATGGAGGTGTATGCGGCCAt > 2:219033/1‑125 (MQ=255) gAAGCCGGCCTGGTGCCCGCCGACTTCTCTCTGCAAGCACAACTGGAAGGTGTGCCGAGCTGGGCATCGCTGAGCGATGAACAAAAACGCCAGTCCGCACGCACCATGGAGGTGTATGCGGCCAt < 1:219033/125‑1 (MQ=255) gAAGCCGGCCTGGTGCCCGCCGACTTCTCTCTGCAAGCACAACTGGAAGGTGTGCCGAGCTGGGCATCGCTGAGCGATGAACAAAAACGCCAGTCCGCACGCACCATGGAGGTGTATGCGGCCATGGTCACGGCGCTGGACGCCGAGGTg < 1:130830/150‑1 (MQ=255) gccgACTTCTCTCTGCAAGCACAACTGGAAGGTGTGCCGAGCTGGGCATCGCTGAGCGATGAACAAAAACGCCAGTCCGCACGCACCATGGAGGTGTATGCGGCCATGGTCACGGCGCTGGACGCCGAGGTGGGGCGCCTGGTGGAacac > 2:107241/1‑150 (MQ=255) ctccatctGCTAGCACAACTAGACGGTGTGCAGACATGGGAACCGCTGCGGGAAGAACAACACCGCCAGTCCGCACGCACCATGGTGGTGTATGCGGCCACGGTAACGGAGCTCGACGACGAGGTAGGGCGCCTGCTGGACCACCTACGc > 2:588307/6‑150 (MQ=255) ctctctGCAAGCACAACTGGAAGGTGTGCCGAGCTGGGCATCGCTGAGCGATGAACAAAAACGCCAGTCCGCACGCACCATGGAGGTGTATGCGGCCATGGTCACGGCGCTGGACGCCGAGGTGGGGCGCCTGGTGGAACACCTAc > 1:543652/1‑146 (MQ=255) ctctctGCAAGCACAACTGGAAGGTGTGCCGAGCTGGGCATCGCTGAGCGATGAACAAAAACGCCAGTCCGCACGCACCATGGAGGTGTATGCGGCCATGGTCACGGCGCTGGACGCCGAGGTGGGGCGCCTGGTGGAACACCTAc < 2:543652/146‑1 (MQ=255) tctGCAAGCACAACTGGAAGGTGTGCCGAGCTGGGCATCGCTGAGCGATGAACAAAAACGCCAGTCCGCACGCACCATGGAGGTGTATGCGGCCATGGTCACGGCGCTGGACGCCGAGGTGGGGCGCCTGGTGGAACACCTACGCAAGAc < 1:107241/150‑1 (MQ=255) tGCAAGCACAACTGGAAGGTGTGCCGAGCTGGGCATCGCTGAGCGATGAACAAAAACGCCAGTCCGCACGCACCATGGAGGTGTATGCGGCCATGGTCACGGCGCTGGACGCCGAGGTGGGGCGCCTGGTGGAACACCTACGCAAGACCg > 1:118766/1‑150 (MQ=255) aaGGTGTGCCGAGCTGGGCATCGCTGAGCGATGAACAAAAACGCCAGTCCGCACGCACCATGGAGGTGTATGCGGCCATGGTCACGGCGCTGGACGCCGAGGTGGGGCGCCTGGTGGAACACCTACGCAAGACCGGCGAGCTGGAAAaca < 2:68710/150‑1 (MQ=255) tgCCGAGCTGGGCATCGCTGAGCGATGAACAAAAACGCCAGTCCGCACGCACCATGGAGGTGTATGCGGCCATGGTCACGGCGCTGGACGCCGAGGTGGGGCGCCTGGTGGAACACCTACGCAAGACCGGCGAGCTGGAAAACACgatga < 1:150555/150‑1 (MQ=255) ccGAGCTGGGCATCGCTGAGCGATGAACAAAAACGCCAGTCCGCACGCACCATGGAGGTGTATGCGGCCATGGTCACGGCGCTGGACGCCGAGGTGGGGCGCCTGGTGGAACACCTACGCAAGACCGGCGAGCTGGAAAACACGATGATc < 2:118766/150‑1 (MQ=255) ttcATCGCTCAGCGATGAACAAAAACGCCAGTCCGCACGCACCATGGAGGTGTATGCGGCCATGGTCACGGCGCTGGACGCCGAGGTGGGGCGCCtggtgg < 2:347534/99‑1 (MQ=255) ttcATCGCTCAGCGATGAACAAAAACGCCAGTCCGCACGCACCATGGAGGTGTATGCGGCCATGGTCACGGCGCTGGACGCCGAGGTGGGGCGCCtggtgg > 1:347534/3‑101 (MQ=255) gCATCGCTGAGCGATGAACAAAAACGCCAGTCCACACGCAACAAGGACCTGTATGCAAACACGAAAAGAACCCTGGAGAGGGGAGTGAAATGGCTAGTGGAACAGTTACGCAAGACCGGCGAGCTGGAAAACACGATGATCCTGTTCATg > 2:377989/1‑150 (MQ=255) aTCGCTGAGCGATGAACAAAAACGCCAGTCCGCACGCACCATGGAGGTGTATGCGGCCATGGTCACGGCGCTGGACGCCGAGGTGGGGCGCCTGGTGGAACACCTACGCAAGACCGGCGa < 1:241870/120‑1 (MQ=255) aTCGCTGAGCGATGAACAAAAACGCCAGTCCGCACGCACCATGGAGGTGTATGCGGCCATGGTCACGGCGCTGGACGCCGAGGTGGGGCGCCTGGTGGAACACCTACGCAAGACCGGCGa > 2:241870/1‑120 (MQ=255) | GCGCAGTACCGAGGCCGCTACGACCAAGGCTACGAAGTCATCGCCCACGAACGCCTGAAGCGCCAACGCGAAGCCGGCCTGGTGCCCGCCGACTTCTCTCTGCAAGCACAACTGGAAGGTGTGCCGAGCTGGGCATCGCTGAGCGATGAACAAAAACGCCAGTCCGCACGCACCATGGAGGTGTATGCGGCCATGGTCACGGCGCTGGACGCCGAGGTGGGGCGCCTGGTGGAACACCTACGCAAGACCGGCGAGCTGGAAAACACGATGATCCTGTTCATG > NC_002947/3789665‑3789946 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |