| Predicted mutation | ||||||
|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | annotation | gene | description |
| MC JC | NC_000913_3_hsa_tpiA | 3,815,859 | Δ82 bp | [rph]–[rph] | [rph], [rph] | |
| Missing coverage evidence... | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| seq id | start | end | size | ←reads | reads→ | gene | description | |||
| * | * | ÷ | NC_000913_3_hsa_tpiA | 3815859 | 3815940 | 82 | 32 [0] | [0] 32 | [rph]–[rph] | [rph],[rph] |
| New junction evidence | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | reads (cov) | reads (cov) | score | skew | freq | annotation | gene | product | ||
| * | ? | NC_000913_3_hsa_tpiA | = 3815858 | 0 (0.000) | 28 (0.710) | 27/266 | 0.6 | 100% | pseudogene (24/48 nt) | rph | ribonuclease PH (defective);enzyme; Degradation of RNA; RNase PH |
| ? | NC_000913_3_hsa_tpiA | 3815941 = | 0 (0.000) | pseudogene (609/669 nt) | rph | ribonuclease PH (defective);enzyme; Degradation of RNA; RNase PH | |||||
ACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCGGCTACCATCCCTTTCA > NC_000913_3_hsa_tpiA/3815795‑3816086 | tttaacacctgcttgctaagcgcaaattcaataaactggcgctgatatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGt > 1:465487‑M2/147‑149 (MQ=255) ttgctaagcgcaaattcaataaactggcgatgatatggtttcatgccttcgctattcatcttacttttctgcagacaaaaaaaaggcgactcatcagtcgcctgaaaaatcagtttgccagcgcccccttctgcCGTCCCCTGCGCTTc > 1:616673‑M2/135‑149 (MQ=255) gcaaattcaataaactggcgctgatatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATgcg < 1:383526‑M2/24‑1 (MQ=255) aataaactggcgctgatatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgcggccttctgcCGTCCCCTCCACTTCAATGATGCGCCCGTCt > 2:397356‑M2/119‑149 (MQ=255) ataaactggcgctgatatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaacaggcgcctcatcaatggccttaaaattcagttttacagggccgccttctgcCGTCTCCTGCTCTTCGGTGATGCGCCCGTCTTc > 1:28775‑M2/117‑149 (MQ=255) taaactggcgctgatatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCa > 2:46442‑M2/116‑126 (MQ=255) taaactggcgctgatatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCa < 1:46442‑M2/11‑1 (MQ=255) gctgatatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCtt > 2:530620‑M2/107‑138 (MQ=255) gctgatatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCtt < 1:530620‑M2/32‑1 (MQ=255) agatggtttcatgccttcgctcctcacctgacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGt < 2:625605‑M2/47‑1 (MQ=255) tcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATAACTACGTTCATGTCg > 2:612985‑M2/95‑149 (MQ=255) atgccttcgctccttatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGt < 1:390939‑M2/57‑1 (MQ=255) atgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGt < 1:223737‑M2/57‑1 (MQ=255) cttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgcctcctgcCGTCCCCAGCACTTCAATTATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTctct > 2:173814‑M2/89‑149 (MQ=255) ctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGc > 1:372088‑M2/84‑149 (MQ=255) acttacttttctacaaacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCCCTGCGGCAGAGTCt < 2:528240‑M2/73‑1 (MQ=255) cttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAAc > 1:428996‑M2/72‑149 (MQ=255) ttttctacagacaaaaaaaaggcgactcgtcagtcgccttaaaaaacagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACg > 1:578217‑M2/71‑149 (MQ=255) acagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTcc < 1:422606‑M2/85‑1 (MQ=255) ataaaaaaaaggcggctcgtcaggcgcattaaaaagcagtttgccagctccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGAt < 2:539969‑M2/89‑1 (MQ=255) acaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGAt > 2:702523‑M2/61‑149 (MQ=255) ttaaaaaacagtttgccagcaccgccttctgcCGTCCCCTGCACTTCAATGATGCCCCCGTCTTCGGTCATCACTACGGTCATGTCGGTCTCTGCGACAGAGTCTTCAACGGATTCCAGATCGCGAACCGCGTCGCCGTTCACAATTcc > 1:673009‑M2/33‑149 (MQ=255) aaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGa < 1:702523‑M2/119‑1 (MQ=255) gtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACt > 1:609274‑M2/23‑149 (MQ=255) tttgccagcgccgccgtctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTg < 1:561613‑M2/128‑1 (MQ=255) gccagcgccgccgtctgcCGTCCCCGTCCCTTCAATGAGTCTCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCgg < 2:352400‑M2/131‑1 (MQ=255) gcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCGGCTAc < 2:428996‑M2/135‑1 (MQ=255) gcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCGGCTAc > 1:444117‑M2/15‑149 (MQ=255) cttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTCCTTGTCGGTCTCTGCCGCAGAGTCTTCAACGTATTACAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGCAACTGCGGCTACCATCCCt < 2:616673‑M2/142‑1 (MQ=255) ctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCCACGTATTCCAGATCGCAACCCGCTTGGCCGTTCACAATTCCGACAGAAACTGCGGCTACCATCCCTTTc > 1:421957‑M2/5‑149 (MQ=255) tgcCTTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCGGCTACCATCCCTTTCa < 1:263693‑M2/146‑1 (MQ=255) tgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCGGCTACCATCCCTTTCa < 1:15927‑M2/146‑1 (MQ=255) | ACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCGGCTACCATCCCTTTCA > NC_000913_3_hsa_tpiA/3815795‑3816086 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 13 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |
| Reads not counted as support for junction |
| read_name Not counted due to insufficient overlap past the breakpoint. |
| read_name Not counted due to not crossing MOB target site duplication. |