| Predicted mutation | ||||||
|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | annotation | gene | description |
| RA | NC_000913_3_hsa_tpiA | 3,815,931 | C→A | pseudogene (619/669 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_hsa_tpiA | 3,815,931 | 0 | C | A | 98.4% | 196.8 / NA | 61 | pseudogene (619/669 nt) | rph | ribonuclease PH (defective);enzyme; Degradation of RNA; RNase PH |
| Reads supporting (aligned to +/- strand): ref base C (0/0); major base A (31/29); minor base G (1/0); total (32/29) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 | |||||||||||
CTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCGGCT > NC_000913_3_hsa_tpiA/3815793‑3816073 | cTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGAGGAGTAGCTCTTCATGGGTGAACGGCTAGCCTTCTGcc < 1:540727/149‑1 (MQ=255) cAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTAGCCTTCTGCCGTc > 1:438341/1‑149 (MQ=255) aCAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTAGCCTTCTGCCGTcccc > 2:25361/1‑149 (MQ=255) aCAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGCCCAGAGCAAAAAAGCAGAGAAACCCTTCATGGGTGAAGGGCCAGCCTTCTGGCGCcccc > 2:162696/1‑149 (MQ=255) cAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCCGCCCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTAGCCTTCTGCCGTCCCCt < 1:445840/149‑1 (MQ=255) cAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTAGCCTTCTGCCGTCCCCt < 1:659816/149‑1 (MQ=255) aaGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCGCCTCGGGCCAGAGCCAACAAGATAAGTAGCTCTTCATGGATGACCGGCTGGCCTTCTGCCGTCCCCTGCCCTTc > 1:499076/1‑149 (MQ=255) aaGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTAGCCTTCTGCCGTCCCCTGCACTTc > 1:41818/1‑149 (MQ=255) ggCGACTCATCAGTCTCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATTGGTGAACGGCTAGCCTTCTGCCGTCCCCTGCACTTCaa < 2:603524/149‑1 (MQ=255) gACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTAGCCTTCTGCCGTCCCCTGCCCTTCAaaga > 1:72597/1‑149 (MQ=255) gACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAAATGCGTAGCGCTTCATGGGGGAACCGCGAGCCTTCTGCCGTCCCCTGCACGTCAatga > 1:174416/1‑149 (MQ=255) gACCCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTAGCCTTCTGCCGTCCCCTGCACTTCGatga < 2:771795/149‑1 (MQ=255) aCTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTAGCCTTCTGCCGTCCCCTGCACTTCAatgat < 1:52843/149‑1 (MQ=255) atcctcaGTCGCCTTAAAAGTCAGTTTGCCAGCGCCTCCTTCTGCGTCGCGACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCTTGGGTGAACGGCTAGCCTTCTGCCGTCCCCTGCACTTCAatgatg < 2:372369/145‑1 (MQ=255) cTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTAGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCg < 1:323405/149‑1 (MQ=255) cTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTAGCCTTCTGCCGTCCACTGCACTTCAATGATGCGCCCGTATTCg > 2:205496/1‑149 (MQ=255) cTTAAAAAGCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTAGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCg < 2:399679/149‑1 (MQ=255) tCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTAGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCAc > 1:454999/1‑149 (MQ=255) tttGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTAGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACg > 2:480698/1‑149 (MQ=255) ccAGCGCCGCCTTCTGCATCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTAGCCTTCTGCCGTCCCCTGCACTTCAATGCTGCCCCCGTCTTCGGTCATCCCTACGTTCa > 2:98724/1‑149 (MQ=255) gcgcCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTAGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGt < 1:25361/149‑1 (MQ=255) gccgacTGCTGCGTCGGTACAATGGATGCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTAGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCg < 1:257336/149‑1 (MQ=255) gccTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTAGCCTTCTGCCGTccc < 2:388125/97‑1 (MQ=255) gccTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTAGCCTTCTGCCGTccc > 1:388125/1‑97 (MQ=255) tGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTTAACGGCTAGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCg > 1:418998/1‑149 (MQ=255) cGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTAGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCaga < 2:574306/149‑1 (MQ=255) tACAATGGATTCGATTCCCCTCGGCCCAGAGCCAACAAGATGAGTAGCTCTTAATGGGTGAACGGCTAGCATTCTGCCGTCCCCTGCACTTCAGTGATGCGCCCGTCTTCGGTCATCACTACGTTTATGTCGGTCTCTGCGGCAGAGTc < 1:761173/149‑1 (MQ=255) cAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTAGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCtt < 1:204681/149‑1 (MQ=255) aaTGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTAGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCtta < 2:560690/149‑2 (MQ=255) tGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTCGCTCTTCANGGGTGAACGGCTAGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATTTCGGTCTCTGCGGCAGAGTCTTCaa > 2:30018/1‑149 (MQ=255) tGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTAGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCaa > 2:147024/1‑149 (MQ=255) attcgattcCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTAGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCCGAGTCTTCAACGt > 2:413397/1‑149 (MQ=255) attcgattcCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTAGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGt > 1:38217/1‑149 (MQ=255) ttcgattcCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTAGCCTTCTGCCGTCCCCTGCACCTCAATGATGCGCCCATCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTa < 1:545339/149‑1 (MQ=255) gattcCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTAGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTc > 1:567198/1‑149 (MQ=255) ccTCTGGCCAGAGCCAACAAGATCAGTAGCTCTTCATGGGTGAACGGCTAGCCTTCTGCCGTTCCCTGCACTTCAATGATGCGCCCGACTTCGGTCATTACTACTTTCATATCGGTCTCCGCGGCAGAGTCTTCAACGTATTCCAGATc < 1:698905/149‑1 (MQ=255) cTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTAGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGt > 2:566622/1‑94 (MQ=255) cTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTAGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGt > 2:566363/1‑94 (MQ=255) cTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTAGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGt < 1:566622/94‑1 (MQ=255) cTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTAGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGt < 1:566363/94‑1 (MQ=255) gCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTAGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAAc > 1:302330/1‑149 (MQ=255) ccAGGGCCAGCAAGATGAGGAGCTCTTCATGGGTGAACGGCTAGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAAcc > 2:738369/1‑149 (MQ=255) agCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTAGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCtt > 2:76293/1‑149 (MQ=255) ccAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTAGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCg > 1:316973/1‑149 (MQ=255) ccAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTAGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCg > 2:102397/1‑149 (MQ=255) caacaaGATGAGTAGCTCTTGATGGGTGAAAGGCTAGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCACATCGCAAACCGCTTCGc > 1:802225/1‑149 (MQ=255) aacaaGATGAGTAGCTCTTCATGGGTGAACGGCTAGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGcc > 1:137190/1‑149 (MQ=255) aacaaGATGAGTAGCTCTTCATAGGTGAACGGCTAGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCATCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGcc > 2:433389/1‑149 (MQ=255) acaaGATGAGTAGCTCTTCATGGGTGAACGGCTAGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCa < 1:415039/129‑1 (MQ=255) acaaGATGAGTAGCTCTTCATGGGTGAACGGCTAGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCa > 2:415039/1‑129 (MQ=255) acaaGATGAGTAGCTCTTCATGGGTGAACGGCTAGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCg > 1:588674/1‑149 (MQ=255) gATGAGTAGCTCTTCATGGGTGAACGGCTAGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACTTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCACACCGCTTCGCCGTTca < 1:720095/149‑1 (MQ=255) ctctTCATGGGTGAACGGCTAGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGa < 2:438341/149‑1 (MQ=255) ctctTCATGGGTGAACGGCTAGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGa < 2:41818/149‑1 (MQ=255) ctctTCATGGGTGAACGGCTAGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGa < 1:208181/149‑1 (MQ=255) ctctTCATGGGTGAACGGCTAGCCTTCTGCCGCCCCCTGAACTTCATTGATTCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGa < 2:588674/149‑1 (MQ=255) tctTCATGGGTGAACGGCTAGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTCCGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGAc > 2:507650/1‑149 (MQ=255) aTGGGTGAACGGCTAGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGaaa > 1:526017/1‑149 (MQ=255) gTGAACGGCTAGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGc < 1:76293/149‑1 (MQ=255) gAACGGCTAGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCgg < 2:38217/149‑1 (MQ=255) aCGGCTAGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCGGCt < 1:98724/149‑1 (MQ=255) | CTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCGGCT > NC_000913_3_hsa_tpiA/3815793‑3816073 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 22 ≤ ATCG/ATCG < 37 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |