| Predicted mutation | ||||||
|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | annotation | gene | description |
| RA | NC_000913 | 1,123,823 | 2 bp→AG | coding (231‑232/648 nt) | grxB ← | reduced glutaredoxin 2 |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913 | 1,123,823 | 0 | G | A | 96.0% | 66.8 / ‑5.6 | 25 | L78L (CTG→TTG) | grxB | reduced glutaredoxin 2 |
| Reads supporting (aligned to +/- strand): ref base G (0/0); major base A (11/13); minor base C (1/0); total (12/13) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 4.80e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 8.87e-01 | |||||||||||
| * | NC_000913 | 1,123,824 | 0 | T | G | 100.0% | 80.4 / NA | 25 | L77F (TTA→TTC) | grxB | reduced glutaredoxin 2 |
| Reads supporting (aligned to +/- strand): ref base T (0/0); new base G (12/13); total (12/13) | |||||||||||
GTCCAGCGCACGTAAATCATCGCTGATATTCTTAATCAGACCGTCAGAGTGGGCCAGCAGGTCGGCAAAATTACCCGCGCTGGCCTCTTTCTTGTCGACGAAATATTTGCGCGCGGCGGGAGTAGAAAACTCATCAAATGCCGATTTGGCAAAACGCGGCAACAGCAGTTTGTTGGCGTAGCCATTGACCTTGCGCAGCCACTCTTCAATGGCAGGGGAACG‑TTTGCCGGTCAGTAACGGTTTGCCGTCGAGTTTATCGACATAGTGAACGATGTCCATGCTTTCTGGCATATAGCGGCTGTCATCTTTTTGCAGAATGGGAACCTGTTTTTGACCGACCATCCGGGTGGGTGTTTCTGCGTCGTCGTTGAGCAGAACATGTAATTCGACGGGGATATTTTTCAGGCCGAAAATCATGCGGGCTTTGAGG > NC_000913/1123590‑1124019 || gTCCAGCGCACGTAAATCATCGCTGATATTCTTAATCAGACCGTCAGAGTGGGCCAGCAGGTCGGCAAAATTACCCGCGCTGGCCTCTTTCTTGTCGACGAAATATTTGCGCGCGGCGGGAGTAGAAAACTCATCAAATGCCGATTTGGCAAAACGCGGCAACAGCAGTTTGTTGGCGTAGCCATTGACCTTGCGCAGCCACTCTTCACTGGCAGGGGAACG‑TTTGCCGGTCAAGAACGGt > 1:79617/1‑241 (MQ=255) cGTAACTCATCGCTGATATTCTTCATCAGACCGTCAGAGTGGGCCAGCAGGTCGGCAAAATTACCCGCGCTGGCCTCTTTCTTGTCGACGAAATATTTGCGCGCGGCGGGAGTAGAAAACTCATCAAATGCCGATTTGGCAAACCGCGGCAACAGCAGTTTGTTGGCGTAGCCCTTGACCTTGCGCAGCCACTCTTCAATGGCAGGGGAACG‑TTTGCCGGTCAAGAACGGTTTGCCGTCGCGTTTATCGAc > 1:100599/1‑251 (MQ=255) gACCGGCAGAGTGGGCCAGCAGGTCGGCAAAATTACCCGCGCTGGCCTCTTTCTTGTCGACGAAATATTTGCGCGCGGCGGGAGTAGAAAACTCATCAAATGCCGATTTGGCAAAACGCGGCAACAGCAGTTTGTTGGCGTAGCCATTGACCTTGCGCAGCCACTCTTCAATGGCAGGGGAACG‑TTTGCCGGTCAAGAACGGTTTGCCGTCGAGTTTATCGACATAGTGAACGATGTCCATGCTTTCTGGc < 1:194029/251‑1 (MQ=255) ncGTCAGAGTGGGCCAGCAGGTCGGCAAAATTACCCGCGCTGGCCTCTTTCTTGTCGACGAAATATTTGCGCGCGGCGGGAGTAGAAAACTCATCAAATGCCGATTTGGCAAAACGCGGCAACAGCAGTTTGTTGGCGTAGCCATTGACCTTGCGCAGCCACTCTTCAATGGCAGGGGAACG‑TTTGCCGGTCAAGAACGGTTTGCCGTCGAGTTTATCGACATAGGGAACGATGTCCATGCTTTCTGGCat > 1:219993/2‑251 (MQ=255) cGTCAGAGTGGGCCAGCAGGTCGGCAAAATTACCCGCGCTGGCCTCTTTCCAGTCGACGAACTATTTGCGCGCGGCGGACGTAGAAAACTCATCAAATGCCGATTTGGCAAAACGCGGCAACAGCAGTTTGTTGGCGTAGCCATTGACCTTGCGCAGCCACTCTTCAATGGCAGGGGCACG‑TTTGCAGGTCAAGAACGGTTTGCCGTCGAGTTTATCGACATAGTGAACGATGTCCATGATTTCTGGCat > 1:312606/1‑250 (MQ=255) cGGCAAAATTACCCGCGCTGGCCTCTTTCTTGTCGACGAAATATTTGCGCGCGGCGGGAGTAGAAAACTCATCAAATGCCGATTTGGCAAAACGCGGCAACAGCAGTTTGTTGGCGTAGCCATTGACCTTGCGCAGCCACTCTTCAATGGCAGGGGAACG‑TTTGCCGGTCAAGAACGGTTTGCCGTCGAGTTTATCGACATAGTGAACGATGTCCATGCTTTCTGGCATATAGCGGCTGTCATCTTTTTGc < 1:124626/251‑1 (MQ=255) ggCAAAATTACCCGCGCTGGCCTCTTTCTTGTCGACGAAATATTTGCGCGCGGCGGGAGTAGAAAACTCATCAAATGCCGATTTGGCAAAACGCGGCAACAGCAGTTTGTTGGCGTAGCCATTGACCTTGCGCAGCCACTCTTCAATGGCAGGGGAACG‑TTTGCCGGTCAAGAACGGTTTGCCGTCGAGTTTATCGACATAGt > 1:141112/1‑203 (MQ=255) cccGCGCTGGCCTCTTTCTTGTCGACGACATATTTGCGCGCGGCGGGAGTAGAAAACTCATCAAATGCCGCTTTGGCCAAACGCGGCAACAGCAGTTTGTTGGCGTAGCCATTGACCTTGCGCAGCCACTCTTCAATGGCAGGGGAACG‑TTTGCCGGTCAAGAACGGTTTGCCGTCGCGTTTATCGACATAGTGAACGATGTCCATGCTTTCTGGCATATAGCGGCTGTCATCTTTTTGCAGAATGGGAAc > 1:329520/1‑251 (MQ=255) ttGTCGACGAAATATTTGCGCGCGGCGGGATTAGAAAACTCATCAAATGCCGTTATGGCAAAACGCGGCAACAGCAGTTTTTTGGCGTAGCCATTGACCTTTCGCAGCCACTCTTCAATGGCAGGGGAACG‑TTTGCCGGTCAAGAACGGTTTGCCGTCGAGt < 1:205209/162‑1 (MQ=255) gaAATATTTGCGCGCGGCGGGAGTAGAAAACTCATCAAATGCCGATTTGGCAAAACGCGGCAACAGCAGTTTGTTGGCGTAGCCATTGACCTTGCGCAGCCACTCTTCAATGGCAGGGGAACG‑TTTGCCGGTCAAGAACGGTTTGCCGTCGAGTTTATCGACATAGTGAACGATGTCCATGCTTTCTGGCATATAGCGGCTGTCATCTTTTTGCAGAATGGGAACCTGTTTTTg > 1:173693/1‑234 (MQ=255) gTAGAAAACTCATCAAATGCCGATTTGGCAAAACGCGGCAACAGCAGTTTGTTGGCGTAGCCATTGGCCTTGCGCAGCCACTCTTCAATGGCAGGGGAACG‑TTTGCCGGTCAAGAACGGTTTGCCGTCGAGTTTATCGACATAGTGAACGATGTCCATGCTTTCTGGCAGATATCGGCTGTCATCTTTTTGCAGAATGGGAACCTGTTTTTGACCGACCATCCGGGTGGGTGTTTCTGCGTCGTCGTTGAg < 1:172748/251‑1 (MQ=255) gTAGAAAACTCATCAAATGCCGATTTGGCAAAACGCGGCAACAGCAGTTTGTTGGCGTAGCCATTGACCTTGCGCAGCCACTCTTCAAAGGCAGGGGAACG‑TTTGCCGGTCAAGAACGGTTTGCCGTCGAGTTTATCGACATAGTGAACGATGTCCATGCTTTCTGGCAGATAGCGGCTGTCATCTTTTGGCAGAATTGGAACCTGTTTTTGACCGACCATCCGGGTGGGTGTTTCTGCGTCGTCGTTGAg < 1:202157/251‑1 (MQ=255) tGGCANNACNNNGCNNCAGCAGTTTGTTGGCGTAGCCATNGACCTTGCGCAGCCACTCTTCAATGGCAGNGNANCG‑TTNNCCGNTAAAGAACGGNTTGCCGTCGAGTTTATCGACATAGTGAACGATGTCCATGCTTTCTGGCNTNTAGCGGCTGTCATCTTTTTGCAGAATGGGAANCTGttttt > 2:259843/1‑186 (MQ=255) tGGCAAAACGCGGCATCAGTAGTTTGTTGGCGTGGCCATTGACCGTGCGCAGCCAGTCTTCAATGGCAGGGGAAGGGTTTGCTGG‑CAAGAACGGTGTGGCGTCGAGCGTATGGACATAGTGAACGATGTCTATGCGTTCTGGCATATATCGGCTGTCATCTTTTTGCAGAATGGGAACCTGttttt < 1:259843/186‑1 (MQ=255) gcagTTTGTTGGCGTAGCCATTGACCTTGCGCAGCCACTCTTCAATGGCAGGGGAACG‑TTTGCCGGTCAAGAACGGTTTGCCGTCGAGTTTATCGACATAGTGAACGATGTCCATGCTTTCTGGCATATAGCGGCTGTCATCTTTTTGCAGAATGGGAACCTGTTTTTGACCGACCATCCGGGTGGGTGTTTCTGCGTCGTCGTTGAGCAGAACATGTAATTCGACGGGGATATTTTTCAGGCCGAAAATc > 1:54207/1‑251 (MQ=255) agccatttgctctGCGCAGCCAATCTGAAATGTCAGGGGAACG‑TTTGCCGGTCAAGAACGGTTTGCCGTCGAGTTTATCGACATAGTGAACGATGTCCATGCTTTCTGGCATATAGTGGCGGTTATAGTTTTGCAGAATGGGAACCTGTTGTTGATTGACCAGCCGTGTGGGGGTTGCTGTGTCGTCGTTCAGCAGAACATGGAATTCGACGGGGATATTTTTCAGGCCGAAAATCATGCGGGATTTGAgg < 1:251741/239‑1 (MQ=255) cTTGCGCAGCCACTCTTCAATGGCAGGGGAACG‑TTTGCCGGTCAAGAACGGTTTGCCGTCGAGTTTATCGACATAGTGAACGATGTCCATGCTTTCTGGCATATAGCGGCTGTCATCTTTTTGCAGAATGGGAACCTGTTTTTGACCGACCATCCGGGTGGGTGTTTCTGCGTCGTCGTTGAGCAGAACATGTAATTCGACGGGGATATTTTTCAGGCCGAAAATCATGCGGGCTTTGAgg > 1:325812/1‑241 (MQ=255) ncACTCTTCAATGGCAGGGGAACG‑TTTGCCGGTCAAGAACGGTTTGCCGTCGAGTTTATCGACATAGTGAACGATGTCCATGCTTTCTGGCATATAGCGGCTGTCATCTTTTTGCAGAATg > 1:68826/2‑121 (MQ=255) ngntcnTCAATNGCAGNGGAACG‑TTTGCCGGTNAAGAACGGGTTTCCGTCGANNTNATCGTNATAGt < 2:141112/64‑1 (MQ=255) aCTCTTCAATGGCAGGGGAACG‑TTTGCCGGTCAAGAACGGTTTGCCGTCGAGTTTATCGACATAGTGAACGATGTCCATGCTTTCTGGCATATAGCGGCTGTCATCTTTTTGCAGAATGGGAACCTGTTTTTGACCGACCATCCGGGTGGGTGTTTCTGCGTCGTCGTTGAGCAGAACATGTAATTCGACGGGGATATTTTTCAggn < 1:85357/207‑2 (MQ=255) ctctTCAATGGCAGGGGAACG‑TTTGCCGGTCAAGAACGGTTTGCCGTCGAGTGTATCGACATAGTGAACGATGTCCATGCTTTCTGGCATATAGCGGCTGTCATCTTTTTGCAGAATGGGAACCTGTTTTTGACCGACCATCCGGGTGGGTGTTTCTGCGTCGTCGTTGAGCa < 1:205767/173‑1 (MQ=255) aTGGCNGGGGANCN‑NATGCCGGTCACGAACGGTTNGCCGTCGAGTTTATCNACATNGTGAangangn > 2:133162/1‑66 (MQ=255) aTGGCAGGGGAACG‑TTTGCCGGTCAAGAACGGTTTGCCGTCGAGTTTATCGACATAGTGAACGATGTCCATGCTTTCTGGCATATAGCGGCTGTCATCTTTTTGc < 1:133162/105‑1 (MQ=255) aCG‑TTTGCCGGTCAAGAACGGTTTGCCGTCGAGTTTATCGACATAGTGAACGATGTCCATGCTTTCTGGCATATAGCGGCGGTCATCTTTTTTCAGAATGGGAACCTGtttt < 1:106354/112‑1 (MQ=255) tGCCGGTCAAGAACGGTTTGCCGTCGAGTTTATCGACATAGTGAACGATGTCCATGCTTTCTGGCATATAGCGGCTGTCATCTTTTTGCAGAATGGGAACCTGTTTTTGACCGACCATCCGGGTGGGTGTTTCTGcg < 1:270386/137‑1 (MQ=255) || GTCCAGCGCACGTAAATCATCGCTGATATTCTTAATCAGACCGTCAGAGTGGGCCAGCAGGTCGGCAAAATTACCCGCGCTGGCCTCTTTCTTGTCGACGAAATATTTGCGCGCGGCGGGAGTAGAAAACTCATCAAATGCCGATTTGGCAAAACGCGGCAACAGCAGTTTGTTGGCGTAGCCATTGACCTTGCGCAGCCACTCTTCAATGGCAGGGGAACG‑TTTGCCGGTCAGTAACGGTTTGCCGTCGAGTTTATCGACATAGTGAACGATGTCCATGCTTTCTGGCATATAGCGGCTGTCATCTTTTTGCAGAATGGGAACCTGTTTTTGACCGACCATCCGGGTGGGTGTTTCTGCGTCGTCGTTGAGCAGAACATGTAATTCGACGGGGATATTTTTCAGGCCGAAAATCATGCGGGCTTTGAGG > NC_000913/1123590‑1124019 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 13 ≤ ATCG/ATCG < 16 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 39 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |