| Predicted mutation | ||||||
|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | annotation | gene | description |
| RA | NC_000913 | 3,815,863 | C→T | pseudogene (19/48 nt) | rph ← | ribonuclease PH (defective),enzyme, Degradation of RNA, RNase PH |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913 | 3,815,863 | 0 | C | T | 98.7% | 235.9 / ‑4.5 | 74 | pseudogene (19/48 nt) | rph | ribonuclease PH (defective),enzyme, Degradation of RNA, RNase PH |
| Reads supporting (aligned to +/- strand): ref base C (1/0); new base T (36/37); total (37/37) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 5.86e-01 | |||||||||||
TAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATT‑CCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCG > NC_000913/3815729‑3815995 | tAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGTTACa < 1:1880922/139‑1 (MQ=255) aGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGTTACAAt < 1:1034688/139‑1 (MQ=255) gcgcAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGTTACAATg > 1:687381/1‑139 (MQ=255) tCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGTTACAATGgattcgat < 2:687381/139‑1 (MQ=255) aTAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGTTACAAt > 1:6634/1‑127 (MQ=255) aTAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGTTACAAt < 2:6634/127‑1 (MQ=255) aaaCTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGTTACAATGGATTCGATT‑ccct < 2:104771/139‑2 (MQ=255) ggCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGTTACAATGGATTCGATT‑‑CCCTCGGGc < 2:677968/139‑1 (MQ=255) cgcTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGTTACAATGGATTCGATT‑‑CCCTCGGGCCa > 1:331048/1‑139 (MQ=255) tatGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGTTACAATGGATTCGATT‑‑CCCTCGGGCCAGAGCca < 2:331048/139‑1 (MQ=255) cATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGTTACAATGGATTCGATT‑ccct > 2:1111923/1‑117 (MQ=255) cATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGTTACAATGGATTCGATT‑ccct < 1:1111923/118‑2 (MQ=255) aTGCCTTCGCTCCTCATCTT‑CTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGTTACAATGGATTCGATT‑‑CCCTCGGGCCAGAGCCAACAAGATGAg > 1:1581668/1‑139 (MQ=255) ccTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGTTACAATGGATTCGATT‑‑CCCTCGGGCCAGAGCCAACAAGATGAGTa > 1:1186247/1‑139 (MQ=255) ccTTCGCTCCTCATCTT‑CTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGTTACAATGGATTCGATT‑‑CCCTCGGGCCAGAGCCAACAAGATGAGTAg < 2:1581668/139‑1 (MQ=255) cTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAACTCAGTTTGCCAGCGCCGCCTTCTGCGTCGTTACAATGGATTCGATT‑‑CCCTCGGGCCAGAGCCAACAAGATGAGTAg < 1:1350910/139‑1 (MQ=255) cTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGTTACAATGGATTCGATT‑‑CCCTCGGGCCAGAGCCAACAAGATGAGTAg < 2:1186247/139‑1 (MQ=255) ttCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGTTACAATGGATTCGATT‑‑CCCTCGGGCCAGAGCCAACAAg > 1:501003/1‑130 (MQ=255) ttCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGTTACAATGGATTCGATT‑‑CCCTCGGGCCAGAGCCAACAAg < 2:501003/130‑1 (MQ=255) tCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGTTACAATGGATTCGATT‑‑CCCTCGGGCCAGAGCCAACAAGATGAGTAg > 2:414168/1‑137 (MQ=255) tCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGTTACAATGGATTCGATT‑‑CCCTCGGGCCAGAGCCAACAAGATGAGTAg < 1:414168/137‑1 (MQ=255) cATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGTTACa < 1:706582/87‑1 (MQ=255) cATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGTTACa > 2:706582/1‑87 (MQ=255) aCTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGTTACAATGGATTCGATT‑‑CCCTCGGGCCAGAGcc > 2:1440537/1‑109 (MQ=255) aCTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGTTACAATGGATTCGATT‑‑CCCTCGGGCCAGAGcc < 1:1440537/109‑1 (MQ=255) aCTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGTTACAATGGATTCGATT‑‑CCCTCGGGCCAGAGCCAACAAg < 1:1435385/115‑1 (MQ=255) aCTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGTTACAATGGATTCGATT‑‑CCCTCGGGCCAGAGCCAACAAg > 2:1435385/1‑115 (MQ=255) aCTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGTTACAATGGATTCGATT‑‑CCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCtt > 2:820988/1‑128 (MQ=255) aCTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGTTACAATGGATTCGATT‑‑CCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCtt < 1:820988/128‑1 (MQ=255) tACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGTTACAATGga > 2:777902/1‑79 (MQ=255) tACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGTTACAATGga < 1:777902/79‑1 (MQ=255) tACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGTTACAATGGATTCGATT‑‑CCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGc > 2:1513322/1‑139 (MQ=255) aCAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGTTACAATGGATTCGATT‑ccct < 2:136455/85‑2 (MQ=255) aCAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGTTACAATGGATTCGATT‑ccct > 1:136455/1‑84 (MQ=255) aaaaaaGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGTTACAATGGATTCGATT‑‑CCCTCGGGc > 1:296892/1‑86 (MQ=255) aaaaaaGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGTTACAATGGATTCGATT‑‑CCCTCGGGc < 2:296892/86‑1 (MQ=255) cGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGTTACAATGGATTCGATT‑‑CCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGc > 1:1056800/1‑139 (MQ=255) aCTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGTTACAATGGATTCGATT‑‑CCCTCGGGCCag > 2:1804372/1‑79 (MQ=255) aCTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGTTACAATGGATTCGATT‑‑CCCTCGGGCCag < 1:1804372/79‑1 (MQ=255) aCTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGTTACAATGGATTCGATT‑‑CCCTCGGGCCAGAGCCAACAAGATGAg < 2:1797435/94‑1 (MQ=255) aCTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGTTACAATGGATTCGATT‑‑CCCTCGGGCCAGAGCCAACAAGATGAg > 1:1797435/1‑94 (MQ=255) aCTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGTTACAATGGATTCGATT‑‑CCCTCGGGCCAGAGCCAACAAGATGAGTAg < 2:852398/97‑1 (MQ=255) aCTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGTTACAATGGATTCGATT‑‑CCCTCGGGCCAGAGCCAACAAGATGAGTAg > 1:852398/1‑97 (MQ=255) aCTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGTTACAATGGATTCGATT‑‑CCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGc < 2:596255/116‑1 (MQ=255) aCTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGTTACAATGGATTCGATT‑‑CCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGc > 1:596255/1‑116 (MQ=255) aCTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGTTACAATGGATTCGATT‑‑CCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTc < 2:502129/131‑1 (MQ=255) aCTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGTTACAATGGATTCGATT‑‑CCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTc > 1:502129/1‑131 (MQ=255) cTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGTTACAATGGATTCGATT‑‑CCCTCGGGCGAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCACt > 1:1207377/1‑139 (MQ=255) gCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGTTACAATGGATTCGATT‑‑CCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTg > 2:1056145/1‑125 (MQ=255) gCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGTTACAATGGATTCGATT‑‑CCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTg < 1:1056145/125‑1 (MQ=255) ccTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGTTACAATGGATTCGATT‑‑CCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCACTTCAATGATgcg > 1:1649179/1‑139 (MQ=255) ttAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGTTACAATGGATTCGATT‑‑CCCTCGGGCCAGAGCCAACAAGATGAGTAg < 2:1675925/83‑1 (MQ=255) ttAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGTTACAATGGATTCGATT‑‑CCCTCGGGCCAGAGCCAACAAGATGAGTAg > 1:1675925/1‑83 (MQ=255) ttAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGTTACAATGGATTCGATT‑‑CCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGcc < 2:100118/139‑1 (MQ=255) ttAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGTTACAATGGATTCGATT‑‑CCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGcc > 2:282862/1‑139 (MQ=255) aaTCAGTTTGCCAGCGCCGCCTTCTGCGTCGTTACAATGGATTCGATT‑‑CCCTCGGGCCAGAGCCAACAAGATGAGTAg < 2:1647375/78‑1 (MQ=255) aaTCAGTTTGCCAGCGCCGCCTTCTGCGTCGTTACAATGGATTCGATT‑‑CCCTCGGGCCAGAGCCAACAAGATGAGTAg > 1:1647375/1‑78 (MQ=255) aGTTTGCCAGCGCCGCCTTCTGCGTCGTTACAATGGATTCGATT‑‑CCCTCGGGCCagag < 2:257112/58‑1 (MQ=255) aGTTTGCCAGCGCCGCCTTCTGCGTCGTTACAATGGATTCGATT‑‑CCCTCGGGCCagag > 1:257112/1‑58 (MQ=255) aGTTTGCCAGCGCCGCCTTCTGCGTCGTTACAATGGATTCGATT‑‑CCCTCGGGCCag < 2:263848/56‑1 (MQ=255) aGTTTGCCAGCGCCGCCTTCTGCGTCGTTACAATGGATTCGATT‑‑CCCTCGGGCCag > 1:263848/1‑56 (MQ=255) aGTTTGCCAGCGCCGCCTTCTGCGTCGTTACAATGGATTCGATT‑‑CCCTCGGGCCAGAGCCAACAAGATGAGTAg < 1:55306/74‑1 (MQ=255) aGTTTGCCAGCGCCGCCTTCTGCGTCGTTACAATGGATTCGATT‑‑CCCTCGGGCCAGAGCCAACAAGATGAGTAg > 2:55306/1‑74 (MQ=255) ttGCCAGCGCCGCCTTCTGCGTCGTTACAATGGATTCGATT‑‑CCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGtca < 2:1056800/139‑1 (MQ=255) ccAGCGCCGCCTTCTGCGTCGTTACAATGGATTCGATT‑‑CCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGtcatca > 1:588458/1‑139 (MQ=255) cAGCGCCGCCTTCTGCGTCGTTACAATGGATTCGATT‑ccct < 1:849966/41‑2 (MQ=38) cAGCGCCGCCTTCTGCGTCGTTACAATGGATTCGATT‑ccct > 2:849966/1‑40 (MQ=39) cAGCGCCGCCTTCTGCGTCGTTACAATGGATTCGATT‑‑CCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCAc > 1:1363773/1‑139 (MQ=255) cgccgcCTTCTGCGTCGTTACAATGGATTCGATT‑‑CCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGcc > 1:1817977/1‑88 (MQ=255) cgccgcCTTCTGCGTCGTTACAATGGATTCGATT‑‑CCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGcc < 2:1817977/88‑1 (MQ=255) ccTTCTGCGTCGCTACAATGGATTCGATTCCCCCTCGGGCCAGCGCCAACAAGGTGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGtt > 2:1829372/1‑139 (MQ=255) tGCGTCGTTACAATGGATTCGATT‑‑CCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCg < 1:1513322/139‑1 (MQ=255) gCGTCGTTACAATGGATTCGATT‑‑CCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTg > 1:211033/1‑92 (MQ=255) gCGTCGTTACAATGGATTCGATT‑‑CCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTg < 2:211033/92‑1 (MQ=255) | TAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATT‑CCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCG > NC_000913/3815729‑3815995 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 30 ≤ ATCG/ATCG < 36 ≤ ATCG/ATCG < 39 ≤ ATCG/ATCG < 40 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |