| Predicted mutation | ||||||
|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | annotation | gene | description |
| RA | NC_000913 | 1,697,394 | C→T | R216K (AGA→AAA) | hdhA ← | 7‑alpha‑hydroxysteroid dehydrogenase |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913 | 1,697,394 | 0 | C | T | 92.9% | 35.3 / NA | 14 | R216K (AGA→AAA) | hdhA | 7‑alpha‑hydroxysteroid dehydrogenase |
| Reads supporting (aligned to +/- strand): ref base C (0/0); major base T (9/4); minor base G (0/1); total (9/5) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 3.57e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 | |||||||||||
GGTTAACCAATAGCCGTGATTTGGCTGCCAGTTATTTAGCAGAGACGTTGATGAGTTTATCCCGGTAAACAACACGCACGGTTGTTTACCGGTCCGTTAGTGTATTAATTGAGCTCCTGTACCCCACCACCGGAGACGGTGAGAATTTGTCCGCTTACCCAGCTCGCAGCAGGCGAGCAAAGGAACAGCGCTGCGTTAGCAATATCTTGCGGTTGGCCCAGACGTCTGATCGGCGTGTGCTGTAACATTTTTTGTTCAATTTCTGGTGTAATAACGGATTTCAGGGCATCGGTTAATATTGCCCCCGGCGCAATGCCATTTACCCGAATATTTTTTTCACCCAGGTCAAACGCCATATTTCTGACCAGATGACTGGCCGCAGCTTTAGATGATGCATAGGAAGTCATGTTTATATTTTTATTTTCTGCCGCCATAGAAGTGATGGTCAGAATAACGC > NC_000913/1697169‑1697625 | ggTTAACCAATAGCCGTGATTTGGCTGCCCGTTATTTAGCAGAGACGTTGATGAGGTTATCCCGGTAAACAACACGCACGGTTGTTTACCGGTCCGTTAGTGTATTAATTGAGCTCCTGTACCCCACCACCGGAGACGGTGAGAATTTGTCCGCTTACCCAGCTCGCAGCAGGCGCGCAAAGGAACAGCGCTGCGTTAGCAATATCTTGCGGTTGGCCCAGACGTTTGATCGGCGTGTGATGTAACAtttt > 1:191995/1‑251 (MQ=255) ccGGTAAACAACACGCACGGTTGTTTNCCGGTCNNTTNGTGTATTAATTGAGCTCCTNTANNNCNNNANCGGAGNCGNNGAGAATTTGNCCGCTTACCCAGCTCGCAGCAGGCGAGCAAAGGAACAGCGCTGCGTTAGCAATNTCTTGCGGTNNGCCCAGACGTTTGATCGGCGTNTGGNNTNNANtttntt > 2:47033/1‑192 (MQ=255) ncacgGTTGTTTACCGGTCCGTTAGTGTATTAATTGAGCTCCTGTACCCCACCACCGGAGACGGTGAGAATTTGTCCGCTTACCCAGCTCGCAGCAGGCGAGCAAAGGAACAGCGCTGCGTTAGCAATATCTTGCGGTTGGCCCAGACGTTTGATCGGCGTGTGCTGTAACATTTTTTg > 1:131760/2‑179 (MQ=255) aTTAATTGAGCTCCTGTACCCCACCACCGGAGACGGTGAGAATTTGTCCGCTTACCCAGCTCGCAGCAGGCGAGCAAAGGAACAGCGCTGCGTTAGCAATATCTTGCGGTTGGCCCAGACGTTTGATCGGCGTGTGCTGTAACATTTTTTGTTCAATTTCTGGTGTAATAACGGATTTCAGGTCATCGGTTAATATTGCCCCCGGCGCAATGCCATTTACCCGAATATTTTTTTCACCCAGGTCAAACGc < 1:180715/250‑1 (MQ=255) gANNNNNTGTNCCCCACCACCGGAGACGGTGAGAATTTGTCCGCTTACCCAGCTCGCAGCAGGCGAGCAAAGGAACAGCGCTGCGTTAGCAATATCTTGCGGTTGGCCCAGACGTTTGATCGGCGTGTGCTGTAACATTTTTTg < 2:131760/144‑1 (MQ=255) gCTCCTGTACCCCACCACCGGAGACGGTGAGAATTTGTCCGCTTACCCAGCTCGCAGCAGGCGAGCAAAGGAACAGCGCTGCGTTAGCAATATCTTGCGGTTGGCCCAGACGTGTGATCGGCGTGTGCTGTAACATTTTTTGTTCAATTTCTGGTGTAATAACGGATTTCATGGCATCGGTTAATAGTGCCCCCGGAGCAATGCCATTTTCCCGAATATTTTGTTCACCCAGGTCAAACGCCATATTTCTg < 1:81838/251‑1 (MQ=255) ccTGTACCCCACCACCGGAGACGGTGAGAATTTGTCCGCTTACCCAGCTCGCAGCAGGCGAGCAAAGGAACAGCGCTGCGTTAGCAATATCTTGCGGTTGGCCCAGACGTTTGATCGGCGTGTGCTGTAACATTTTTTGTTCAATTTCTGGTGTAATAACGGATTTCAGGGCATCGGTTAATATTGc > 1:150720/1‑187 (MQ=255) ccTGTACCCCACCACCGGAGACGGTGAGAATTTGTCCGCGTACCCAGCTCGCAGCAGGCGAGCAAAGGAACAGCGCTGCGTTAGCAATATCTTGCGGTNGGCNCAGANGTNTGATCGGCGTGTGCTNTAACATTTTTTGTTCAATTTCTGGTGTAATAACGGATTTCAGGGNNTNNNTNAATATTGc < 2:150720/187‑1 (MQ=255) ggTGAGAATTTGTCCGCTTACCCAGCTCGCAGCAGGCGAGCAAAGGAACAGCGCTGCGTTAGCAATATCTTGCGGTTGGCCCAGACGTTTGATCGGCGTGTGCTGTAACATTTTTTGTTCAATTTCGGGTGTAATAACGGATTTCAGGGCATCGGTTAATATTGCCCCCGGCGCAATGCCATTTACCCGAATATTTTTTGCACCCAGGTCAAACGCCATATTTCTGACCAGATGACTGGCCGCAGCTTTAg < 1:35036/251‑1 (MQ=255) naaTTTGTCCGCTTACCCAGCTCGCAGCAGGCGAGCAAAGGAACAGCGCTGCGTTAGCAATATCTTGCGGTTGGCCCAGACGTTTGATCGGCGTGTGCTGTAACATTTTTTGTTCCATTTCTGGTGTAATAACGGATTTCAGGGCCTCGGTTAATATTGCCCCCGGCGCAATGCCAttt > 1:19147/2‑179 (MQ=255) cAGCTCGCAGCAGGCGAGCAAAGGAACAGCGCTGCGTTAGCAATATCTTGCGGTTGGCCCAGACGTTTGATCGGCGTGTGCTGTAACATTTTTTGTTCAATTTCTGGTGTAATAACGGATTTCAGGGCATCGGTTAATATTGCCCCCGGCGCAATGCCATTTACCCGAATATTTTTTTCACCCAGGTCAAACGCCATATTTCTGACCAGATGACTGGCCGCAGCTTTAGATGATGCATTGGAAGTCATGtt > 1:35961/1‑251 (MQ=255) cAGCTCGCAGCAGGCGAGCAAAGGAACAGCGCTGCGTTAGCAATATCTTGCGGTTGGCCCAGACGTTTGATCGGCGTGCGCTGTAACATTTTTTGTTCAATTTCTGGTGTAATAACGGATTTCCGGGCATCGGTTAATATTGTCCCCGGCGCAATGCCATTTTCCCGCATATTTTTTTCACCCAGGTCAAACGCCATATTTCTGACCAGATGACTGGCCGCAGCTTTAGATGATGCATAGGAAGACATGtt > 1:35967/1‑251 (MQ=255) ggCGAGCAAAGGAACAGCGCTGCGTTAGCAATATCTTGCGGTTGGCCCAGACGTTTGATCGGCGTGTGCTGTAACCTTTTTTGTTCAATTTCTGGTGTAATAACGGATTTCAGGGCATCGGTTAATATTTCCCCCGGCGCACTGCCATTTACCCGAATATTTTTTTCACCCAGGTCAAACGCCATATTTCTGACCAGATGACTGGCCGCAGCTTTAGATGCTGCCTAGGCAGTCATGTTtttatttttatt > 1:125081/1‑251 (MQ=255) tGCGGTTGGCCCAGACGTTTGATCGGCGTGTGCTGTAACATTTTTTGTTCAATTTCTGGTGTAATAACGGATTTCAGGGCATCGGTTAATATTGCCCCCGGCGCAATGCCATTTACCCGAATATTTTTTTCACCCAGGTCAAACGCCATATTTCTGACCAGATGACTGGCCGCAGCTTTAGATGATGCATAGGAAGTCATGTTTATATTTTTATTTTCTGCCGCCATAGAAGTGATGGTGAGAATAACGc < 1:47033/250‑1 (MQ=255) gCCCAGACGTTTGATCGGCGTGTGCTGTAACCTTTTTTGTTCAATTTCTGGTGTAATAACGGATTTCAGGGCATCGGTTAATATTGCCCCCGGCGCCATGCCATTTACCCGAATATTTTTTTTACCCAGGTCAAACGCCATATTTCTGACCAGCTGACTGGCCGCAGCTTTAGATGATGCATAGGAAGTCATGTTTTtattttt > 1:9384/1‑204 (MQ=255) | GGTTAACCAATAGCCGTGATTTGGCTGCCAGTTATTTAGCAGAGACGTTGATGAGTTTATCCCGGTAAACAACACGCACGGTTGTTTACCGGTCCGTTAGTGTATTAATTGAGCTCCTGTACCCCACCACCGGAGACGGTGAGAATTTGTCCGCTTACCCAGCTCGCAGCAGGCGAGCAAAGGAACAGCGCTGCGTTAGCAATATCTTGCGGTTGGCCCAGACGTCTGATCGGCGTGTGCTGTAACATTTTTTGTTCAATTTCTGGTGTAATAACGGATTTCAGGGCATCGGTTAATATTGCCCCCGGCGCAATGCCATTTACCCGAATATTTTTTTCACCCAGGTCAAACGCCATATTTCTGACCAGATGACTGGCCGCAGCTTTAGATGATGCATAGGAAGTCATGTTTATATTTTTATTTTCTGCCGCCATAGAAGTGATGGTCAGAATAACGC > NC_000913/1697169‑1697625 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 13 ≤ ATCG/ATCG < 15 ≤ ATCG/ATCG < 31 ≤ ATCG/ATCG < 39 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |