Predicted mutation | |||||||
---|---|---|---|---|---|---|---|
evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | minE | 2,404,592 | C→G | 45.0% | E58Q (GAG→CAG) L13L (CTC→CTG) |
yzcX ← cyaY → |
hypothetical protein frataxin, iron‑binding and oxidizing protein |
Read alignment evidence... | |||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | minE | 2,404,592 | 0 | C | G | 45.0% | 17.2 / 88.4 | 80 | E58Q (GAG→CAG) L13L (CTC→CTG) | yzcX cyaY | hypothetical protein frataxin, iron‑binding and oxidizing protein |
Reads supporting (aligned to +/- strand): ref base C (12/32); new base G (24/12); total (36/44) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 6.42e-04 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.37e-01 |
ACTTAAAAACAGGATACAACAATGAACGACAGTGAATTTCATCGCCTGGCTGATCAACTCTGGCTGACCATTGAAGAACGCCTGGACGACTGGGATGGCGACAGCGATATCGACTGCGA > minE/2404533‑2404651 | aCTTAAAAACAGGATACAACAATGAACGACAGTGAATTTCATCGCCTGGCTGATCAACTCTg < 1:2368749/62‑1 (MQ=255) aCTTAAAAACAGGATACAACAATGAACGACAGTGAATTTCATCGCCTGGCTGATCAACTCTg < 1:2364719/62‑1 (MQ=255) aCTTAAAAACAGGATACAACAATGAACGACAGTGAATTTCATCGCCTGGCTGATCAACTCTg < 1:2079042/62‑1 (MQ=255) aCTTAAAAACAGGATACAACAATGAACGACAGTGAATTTCATCGCCTGGCTGATCAACTCTg < 1:3099428/62‑1 (MQ=255) aCTTAAAAACAGGATACAACAATGAACGACAGTGAATTTCATCGCCTGGCTGATCAACTCTg < 1:2761107/62‑1 (MQ=255) aCTTAAAAACAGGATACAACAATGAACGACAGTGAATTTCATCGCCTGGCTGATCAACTCTg < 1:1382482/62‑1 (MQ=255) aCTTAAAAACAGGATACAACAATGAACGACAGTGAATTTCATCGCCTGGCTGATCAACTCTGGCTGAcc > 1:2073917/1‑69 (MQ=255) aCTTAAAAACAGGATACAACAATGAACGACAGTGAATTTCATCGCCTGGCTGATCAACTCTGGCTGAcc > 1:2452648/1‑69 (MQ=255) aCTTAAAAACAGGATACAACAATGAACGACAGTGAATTTCATCGCCTGGCTGATCAACTCTGGCTGAcc > 1:1891100/1‑69 (MQ=255) aCTTAAAAACAGGATACAACAATGAACGACAGTGAATTTCATCGCCTGGCTGATCAACTCTGGCTGAcc > 1:1527988/1‑69 (MQ=255) aCTTAAAAACAGGATACAACAATGAACGACAGTGAATTTCATCGCCTGGCTGATCAACTCTGGCTGAcc > 1:2139518/1‑69 (MQ=255) tAAAAACAGGATACAACAATGAACGACAGTGAATTTCATCGCCTGGCTGATCAACTCTGGCTGACCAt > 1:672365/1‑68 (MQ=255) aaaaaCAGGATACAACAATGAACGACAGTGAATTTCATCGCCTGGCTGATCAACTGTGGc > 1:1074427/1‑60 (MQ=255) aaaaaCAGGATACAACAATGAACGACAGTGAATTTCATCGCCTGGCTGATCAACTGTGGCt > 1:2317669/1‑61 (MQ=255) aaaaaCAGGATACAACAATGAACGACAGTGAATTTCATCGCCTGGCTGATCAACTGTGGCt > 1:2715299/1‑61 (MQ=255) aaaaaCAGGATACAACAATGAACGACAGTGAATTTCATCGCCTGGCTGATCAACTGTGGCt > 1:23154/1‑61 (MQ=255) aaaaaCAGGATACAACAATGAACGACAGTGAATTTCATCGCCTGGCTGATCAACTGTGGCt > 1:2313619/1‑61 (MQ=255) aaaaaCAGGATACAACAATGAACGACAGTGAATTTCATCGCCTGGCTGATCAACTGTGGCt > 1:2532422/1‑61 (MQ=255) aaaaaCAGGATACAACAATGAACGACAGTGAATTTCATCGCCTGGCTGATCAACTGTGGCt > 1:2628442/1‑61 (MQ=255) aaaaaCAGGATACAACAATGAACGACAGTGAATTTCATCGCCTGGCTGATCAACTGTGGCt > 1:2714584/1‑61 (MQ=255) aaaaaCAGGATACAACAATGAACGACAGTGAATTTCATCGCCTGGCTGATCAACTGTGGCt > 1:1069628/1‑61 (MQ=255) aaaaaCAGGATACAACAATGAACGACAGTGAATTTCATCGCCTGGCTGATCAACTGTGGCt > 1:2728769/1‑61 (MQ=255) aaaaaCAGGATACAACAATGAACGACAGTGAATTTCATCGCCTGGCTGATCAACTGTGGCt > 1:2801103/1‑61 (MQ=255) aaaaaCAGGATACAACAATGAACGACAGTGAATTTCATCGCCTGGCTGATCAACTGTGGCt > 1:2912954/1‑61 (MQ=255) aaaaaCAGGATACAACAATGAACGACAGTGAATTTCATCGCCTGGCTGATCAACTGTGGCt > 1:3136148/1‑61 (MQ=255) aaaaaCAGGATACAACAATGAACGACAGTGAATTTCATCGCCTGGCTGATCAACTGTGGCt > 1:518544/1‑61 (MQ=255) aaaaaCAGGATACAACAATGAACGACAGTGAATTTCATCGCCTGGCTGATCAACTGTGGCt > 1:661830/1‑61 (MQ=255) aaaaaCAGGATACAACAATGAACGACAGTGAATTTCATCGCCTGGCTGATCAACTGTGGCt > 1:770878/1‑61 (MQ=255) aaaaaCAGGATACAACAATGAACGACAGTGAATTTCATCGCCTGGCTGATCAACTGTGGCt > 1:1448207/1‑61 (MQ=255) aaaaaCAGGATACAACAATGAACGACAGTGAATTTCATCGCCTGGCTGATCAACTGTGGCt > 1:2145594/1‑61 (MQ=255) aaaaaCAGGATACAACAATGAACGACAGTGAATTTCATCGCCTGGCTGATCAACTGTGGCt > 1:1469434/1‑61 (MQ=255) aaaaaCAGGATACAACAATGAACGACAGTGAATTTCATCGCCTGGCTGATCAACTGTGGCt > 1:201462/1‑61 (MQ=255) aaaaaCAGGATACAACAATGAACGACAGTGAATTTCATCGCCTGGCTGATCAACTGTGGCt > 1:1156807/1‑61 (MQ=255) aaaaaCAGGATACAACAATGAACGACAGTGAATTTCATCGCCTGGCTGATCAACTGTGGCt > 1:109051/1‑61 (MQ=255) aaaaaCAGGATACAACAATGAACGACAGTGAATTTCATCGCCTGGCTGATCAACTGTGGCt > 1:1750311/1‑61 (MQ=255) aaaaaCAGGATACAACAAAGAACGACAGTGAATTTCATCGCCTGGCTGATCAACTGTGGc > 1:262306/1‑60 (MQ=255) cAGGATACAACAATGAACGACAGTGAATTTCATCGCCTGGCTGATCAACTGTGGCTGACCATTgaag < 1:2199538/67‑1 (MQ=255) cAGGATACAACAATGAACGACAGTGAATTTCATCGCCTGGCTGATCAACTGTGGCTGACCATTgaag < 1:281823/67‑1 (MQ=255) cAGGATACAACAATGAACGACAGTGAATTTCATCGCCTGGCTGATCAACTGTGGCTGACCATTgaag < 1:406967/67‑1 (MQ=255) cAGGATACAACAATGAACGACAGTGAATTTCATCGCCTGGCTGATCAACTGTGGCTGACCATTgaag < 1:410464/67‑1 (MQ=255) cAGGATACAACAATGAACGACAGTGAATTTCATCGCCTGGCTGATCAACTGTGGCTGACCATTgaag < 1:1623291/67‑1 (MQ=255) cAGGATACAACAATGAACGACAGTGAATTTCATCGCCTGGCTGATCAACTGTGGCTGACCATTgaag < 1:2548885/67‑1 (MQ=255) cAGGATACAACAATGAACGACAGTGAATTTCATCGCCTGGCTGATCAACTGTGGCTGACCATTgaag < 1:2479049/67‑1 (MQ=255) cAGGATACAACAATGAACGACAGTGAATTTCATCGCCTGGCTGATCAACTGTGGCTGACCATTgaag < 1:671024/67‑1 (MQ=255) cAGGATACAACAATGAACGACAGTGAATTTCATCGCCTGGCTGATCAACTGTGGCTGACCATTgaag < 1:2440687/67‑1 (MQ=255) cAGGATACAACAATGAACGACAGTGAATTTCATCGCCTGGCTGATCAACTGTGGCTGACCATTgaag < 1:2344761/67‑1 (MQ=255) cAGGATACAACAATGAACGACAGTGAATTTCATCGCCTGGCTGATCAACTGTGGCTGACCATTgaag < 1:2477338/67‑1 (MQ=255) acaacaATGAACGACAGTGAATTTCATCGCCTGGCTGATCAACTCTGGCTGACCATTGAAGAACGCCTg < 1:3273949/69‑1 (MQ=255) caacaaTGAACGACAGTGAATTTCATCGCCTGGCTGATCAACTGTGGCTGACCATTgaag < 1:813755/60‑1 (MQ=255) caacaaTGAACGACAGTGAATTTCATCGCCTGGCTGATCAACTCTGGCTGACCATTGAAGAACGCCTgg > 1:872735/1‑69 (MQ=255) caacaaTGAACGACAGTGAATTTCATCGCCTGGCTGATCAACTCTGGCTGACCATTGAAGAACGCCTgg > 1:30892/1‑69 (MQ=255) caacaaTGAACGACAGTGAATTTCATCGCCTGGCTGATCAACTCTGGCTGACCATTGAAGAACGCCTgg > 1:227599/1‑69 (MQ=255) caacaaTGAACGACAGTGAATTTCATCGCCTGGCTGATCAACTCTGGCTGACCATTGAAGAACGCCTg < 1:3391560/68‑1 (MQ=255) caacaaTGAACGACAGTGAATTTCATCGCCTGCCTGATCAACTCTGGCTGACCATTGAAGAACGCCTgg > 1:2814752/1‑69 (MQ=255) caacaaTGAACGAAAGTGAATTTCATCGCCTGGCTGATCAACTCTGGCTGACCATTGAAGAACGCCTgg > 1:823054/1‑69 (MQ=255) acaaTGAACGACAGTGAATTTCATCGCCTGGCTGATCAACTCTGGCTGACCATTGAAGAACGCCTg < 1:885218/66‑1 (MQ=255) acaaTGAACGACAGTGAATTTCATCGCCTGGCTGATCAACTCTGGCTGACCATTGAAGAACGCCTg < 1:1168446/66‑1 (MQ=255) acaaTGAACGACAGTGAATTTCATCGCCTGGCTGATCAACTCTGGCTGACCATTGAAGAACGCCTg < 1:929847/66‑1 (MQ=255) acaaTGAACGACAGTGAATTTCATCGCCTGGCTGATCAACTCTGGCTGACCATTGAAGAACGCCTg < 1:1000307/66‑1 (MQ=255) acaaTGAACGACAGTGAATTTCATCGCCTGGCTGATCAACTCTGGCTGACCATTGAAGAACGCCTg < 1:1184206/66‑1 (MQ=255) acaaTGAACGACAGTGAATTTCATCGCCTGGCTGATCAACTCTGGCTGACCATTGAAGAACGCCTg < 1:1957012/66‑1 (MQ=255) acaaTGAACGACAGTGAATTTCATCGCCTGGCTGATCAACTCTGGCTGACCATTGAAGAACGCCTg < 1:178197/66‑1 (MQ=255) acaaTGAACGACAGTGAATTTCATCGCCTGGCTGATCAACTCTGGCTGACCATTGAAGAACGCCTg < 1:1508234/66‑1 (MQ=255) acaaTGAACGACAGTGAATTTCATCGCCTGGCTGATCAACTCTGGCTGACCATTGAAGAACGCCTg < 1:2464020/66‑1 (MQ=255) acaaTGAACGACAGTGAATTTCATCGCCTGGCTGATCAACTCTGGCTGACCATTGAAGAACGCCTg < 1:1281361/66‑1 (MQ=255) aaCGACAGTGAATTTCATCGCCTGGCTGATCAACTCTGGCTGACCATTGAAGAACGCCTGGACGACTgg < 1:2687739/69‑1 (MQ=255) aaCGACAGTGAATTTCATCGCCTGGCTGATCAACTCTGGCTGACCATTGAAGAACGCCTGGACGACTgg < 1:2233692/69‑1 (MQ=255) aaCGACAGTGAATTTCATCGCCTGGCTGATCAACTCTGGCTGACCATTGAAGAACGCCTGGACGACTgg < 1:2125480/69‑1 (MQ=255) aaCGACAGTGAATTTCATCGCCTGGCTGATCAACTCTGGCTGACCATTGAAGAACGCCTGGACGACTgg < 1:1569082/69‑1 (MQ=255) aaCGACAGTGAATTTCATCGCCTGGCTGATCAACTCTGGCTGACCATTGAAGAACGCCTGGACGACTgg < 1:487984/69‑1 (MQ=255) aaCGACAGTGAATTTCATCGCCTGGCTGATCAACTCTGGCTGACCATTGAAGAACGCCTGGACGACTgg < 1:1550982/69‑1 (MQ=255) aaCGACAGTGAATTTCATCGCCTGGCTGATCAACTCTGGCTGACCATTGAAGAACGCCTGGACGACTgg < 1:2745967/69‑1 (MQ=255) aaCGACAGTGAATTTCATCGCCTGGCTGATCAACTCTGGCTGACCATTGAAGAACGCCTGGACGACTgg < 1:3298260/69‑1 (MQ=255) aaCGACAGTGAATTTCATCGCCTGGCTGATCAACTCTGGCTGACCATTGAAGAACGCCTGGACGACTgg < 1:1368044/69‑1 (MQ=255) aCGACAGTGAATTTCATCGCCTGGCTGATCAACTCTGGCTGACCATTGAAGAACGCCTg < 1:2337530/59‑1 (MQ=255) aCGACAGTGAATTTCATCGCCTGGCTGATCAACTCTGGCTGACCATTGAAGAACGCCTGGACGACTgg < 1:487025/68‑1 (MQ=255) aCGACAGTGAATTTCATCGCCTGGCTGATCAACTCTGGCTGACCATTGAAGAACGCCTGGACGACTgg < 1:3299326/68‑1 (MQ=255) aCGACAGTGAATTTCATCGCCTGGCTGATCAACTCTGGCTGACCATTGAAGAACGCCTGGACGACTgg < 1:823850/68‑1 (MQ=255) aaTTTCATCGCCTGGCTGATCAACTCTGGCTGACCATTGAAGAACGCCTGGACGACTGGGATGGCGACa > 1:2346671/1‑69 (MQ=255) tGATCAACTCTGGCTGACCATTGAAGAACGCCTGGACGACTGGGATGGCGACAGCGATATCGACTGCGa < 1:179031/69‑1 (MQ=255) | ACTTAAAAACAGGATACAACAATGAACGACAGTGAATTTCATCGCCTGGCTGATCAACTCTGGCTGACCATTGAAGAACGCCTGGACGACTGGGATGGCGACAGCGATATCGACTGCGA > minE/2404533‑2404651 |
Alignment Legend |
---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 21 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 36 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |