| Predicted mutation | ||||||
|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | annotation | gene | description |
| RA | NC_000913 | 3,061,674 | C→T | F275F (TTC→TTT) | scpA → | methylmalonyl‑CoA mutase |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913 | 3,061,674 | 0 | C | T | 92.9% | 31.6 / ‑3.0 | 15 | F275F (TTC→TTT) | scpA | methylmalonyl‑CoA mutase |
| Reads supporting (aligned to +/- strand): ref base C (0/1); new base T (6/7); total (7/8) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 2.05e-01 | |||||||||||
CACCAAAACCGTCAATGCGCATTATCGCCGACATCATCGCCTGGTGTTCCGGCAACATGCCGCGATTTAATACCATCAGTATCAGCGGTTACCACATGGGTGAAGCGGGTGCCAACTGCGTGCAGCAGGTAGCATTTACGCTCGCTGATGGGATTGAGTACATCAAAGCAGCAATCTCTGCCGGACTGAAAATTGATGACTTCGCTCCTCGCCTGTC‑GTTCTTCTTCGGCATCGGCATGGATCTGTTTATGAACGTCGCCATGTTGCGTGCGGCACGTTATTTATGGAGCGAAGCGGTCAGTGGATTTGGCGCACAGGACCCGAAATCACTGGCGCTGCGTACCCACTGCCAGACCTCAGGCTGGAGCCTGACTGAACAGGATCCGTATAACAACGTTATCCGCACCACCATTGAAGCGCTGGCTGCGACGCTGGGCGGTACTC > NC_000913/3061454‑3061897 | caccaAAACCGTCAATGCGCATTATCGCCGACATCATCGCCTGGTGTTCCGGCAACATGCCGCGATTTAATACCATCAGTATCAGCGGTTACCACATGGGTGAAGCGGGTGCCAACTGAGTGCAGCAGGTAGCATTTACGCTCGCTGATGGGATTGAGTACATCAAAGCAGCAATCTCTGCCGGACTGAAAATTGATGACTTCGCTCCTCGCCTGTC‑GGTTTTCTTCGGCATCGGCATGGATCTGTTTATg > 1:79600/1‑251 (MQ=255) ccGACNNCANNNCCNNGCGTTCCGGCAACATGCCGCGATNTAATACCATCAGTATCAGCGGTTACCAAANGNGNGAAGNNGGTNCAAACTGCGGNCAACGGGTGGCATTTTCGGTCGCTGCTGGGATTGAAAAAATCAAAAAANCNATCTCTTCCTGTCTGAAACTTTCTTACTGCGNTCCTCGCCTGTCTGTT‑TTATtcggnatccnnttn > 2:382843/1‑206 (MQ=255) cgcgATTTAATACCAGCAGTATCAGCGGTTACCACATGGGTGAAGCGGGTGCCAACTGCGTGCAGCAGGTAGCATTTACGCTCGCTGATGGGATTGAGTACATCAAAGCAGCAATCGCTGCCGGACTGAAAAGTGATGACTTCGCTCCTCGCCTGTC‑GTGTTTCTTCGGCATCGGCATGGATCTGTTTATGAACGTCGCCATGTTGCGTGCGGCACGTTATTTATGGAGCGAAGCGGTCAGTGGATTTGgc < 1:382843/251‑1 (MQ=255) cacaTGGGTGAAGCGTGTGCCAACTGCGTGCAGCAGGTAGCATTTACGCTCGCTGATGGGATTGAGTACATCAAAGCAGCAATCTCTGCCGGACTGAAAATTGATGACTTCGCTCCTCGCCTGTC‑GTTTTTCTtcg < 1:73200/136‑1 (MQ=255) gCGGGTGCCAACTGCGTGCAGCAGGTAGCATTTACGCTCGCTGATGGGATTGAGTACATCAAAGCAGCAATCTCTGCCGGACTGAAAATTGATGACTTCGCTCCTCGCCTGTC‑GTTTTTCTTCGGCATCGGCATGGATCTGTTTATGAACGTCACCATGTTGCGTGCGGCACGTTATTTATGGAGCGAAGCGGTCAGTGGATTTGGCGCACGGGACCCGAAATCACTGGCGCTGCGTACCCACTGCCAGAc > 1:4463/1‑251 (MQ=255) gCGGGTGCCAACTGCGTGCAGCAGGTAGCATTTACGCTCGCTGATGGGATTGAGTACATCAAAGCAGCAATCTCTGCCGGACTGAAAATTGATGACTTCGCTCCTCGCCTGTC‑GTTCTTCTTCGGCATCGGCATGGATCTGTTTATGAACGTCGCCATGTTGCGTGCGGCACGTTATTTATGGAGCGAAGCGGTCAGTGGATTTGGCGCACAGGACCCGAAATCACTGGCGCTGCGTACCCACTGCCAGAc < 1:33403/251‑1 (MQ=255) cATTTACGCTCGCTGATGGGATTGAGTACATCAAAGCAGCAATCTCTGCCGGACTGAAAATTGATGACTTCGCTCCTCGCCTGTC‑GTTTTTCTTCGGCATCGGCATGGATCTGTTTATGAACGTCGCCATGTTNCGTNNNNNAcnn > 2:306468/1‑144 (MQ=255) ggATTGAGTACATCAAAGCAGCAATCTCTGCCGGACTGAAAATTGATGACTTCGCTCCTCGCCTGTA‑GTTTTTCTtcgg > 1:374592/1‑79 (MQ=255) gAGTANNTCNNNGCNNCAATCTCTGCCGGACTGAAAATTNATGACTTCGCTCCTCGCCTGTC‑GTTTTTCNTNGNCATCNNCATNGGTCTGTTTANGAACGTCGCCATGTTGCGTGCgg > 2:364659/1‑118 (MQ=255) gAGTACATCAAAGCAGCAATCTCTGCCGGACTGAAAATTGATGACTTCGCTCCTCGCCTGTC‑GTTTTTCTTCGGCATCGGCATGGATCTGTTTATGAACGTCGCCATGTTGCGTGCgg < 1:364659/118‑1 (MQ=255) cATCANAGCAGNANNCTCTGCCGGACTGAAAATTNATGACTTCGCTCCTCNCCTGNC‑Gtttntcntn > 2:214260/1‑66 (MQ=255) aTCAAAGCAGCAATCTCTGCCGGACTGAAAATTGATGACTTCGCTCCTCGCCTGTC‑GTTTTTCTTCGGCATCGGCATGGATCTGTTTATGAACGTCGCCATGTTGCGTGCGGCACGTTATTTATGGAGCGAAGCGGTCAGTGGATTTGGCGAACAGGACCCGAAATCACTGGCGCTGCGTACCCACTGCCAGACTTCAGGCTGGAGCCTGACTGAACAGGATCCGTATAACAACGTTATCCGCGCCACCAt < 1:165336/251‑1 (MQ=255) aTCTCTGCCGGACTGAAAATTGATGACTTCGCTCCTCGCCTTTC‑GTTTTTCTTCGGCAGCGGCATGGATCTGTTTATGAACGTCGCCATGTTGCGTGCggn < 1:99547/101‑2 (MQ=255) gCCGGACTGAAAATTGATGACTTCGCTCCTCGCCTGTC‑GTTTTTCTTCGGCATCGGCATGGATCTGTTTATGAACGTCGCCATGTTGCGTGCGGCACGTTATTTATGGAGCGAAGCGGTCAGTGGATTTGGCGCACAGGACCCGAAATCACTGGCGCTGCGTACCCACTGCCAGACCTCAGGCTGGAGCCTGACTGAACAGGATCCGTATAACAACGTTATCCGCACCACCATTGAAGCGCTGGCTGCGAc < 1:214260/251‑1 (MQ=255) tGAAAATTGATGACTTCGCTCCTCGCCTGTC‑GTTTTTCTTCGGCATCGGCATGGATCTGTTTATGAACGTCGCCATGTTGCGTGCGGCACGTTATTTATGGAGCGAAGCGGTCAGTGGATTTGGCGCACAGGACCCGAAAGCACTGGCGCTGCGTACCCACTGCCAGACCTCAGGCTg < 1:154738/178‑1 (MQ=255) gatgaCTTCGCTCCTCGCCTGTC‑GTTTTTCTTAGGAATCGGCATGGATCTGTTTATGAACGTCGCCATGTTGCGTGCGGCACGTTATTTATGGAGCGAAGCGGTCAGTGGATTTGGCGCACAGGACCCGAAATCACTGGCGCTGCGTACCCACTGCCAGACCTCAGGCTGGAGCCTGACTGAACAGGATCCGTATAACAACGTTATCCGCACCACCATTGAAGCGCTGGCTGCGACGCTGGGCGGTACTc > 1:156845/1‑250 (MQ=255) | CACCAAAACCGTCAATGCGCATTATCGCCGACATCATCGCCTGGTGTTCCGGCAACATGCCGCGATTTAATACCATCAGTATCAGCGGTTACCACATGGGTGAAGCGGGTGCCAACTGCGTGCAGCAGGTAGCATTTACGCTCGCTGATGGGATTGAGTACATCAAAGCAGCAATCTCTGCCGGACTGAAAATTGATGACTTCGCTCCTCGCCTGTC‑GTTCTTCTTCGGCATCGGCATGGATCTGTTTATGAACGTCGCCATGTTGCGTGCGGCACGTTATTTATGGAGCGAAGCGGTCAGTGGATTTGGCGCACAGGACCCGAAATCACTGGCGCTGCGTACCCACTGCCAGACCTCAGGCTGGAGCCTGACTGAACAGGATCCGTATAACAACGTTATCCGCACCACCATTGAAGCGCTGGCTGCGACGCTGGGCGGTACTC > NC_000913/3061454‑3061897 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 13 ≤ ATCG/ATCG < 15 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 39 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |