| Predicted mutation | ||||||
|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | annotation | gene | description |
| RA | NC_000913_3_hsa_pgi | 1,529,180 | T→C | pseudogene (1279/2037 nt) | rhsE → | pseudogene, Rhs family |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913_3_hsa_pgi | 1,529,180 | 0 | T | C | 93.3% | 18.3 / ‑5.3 | 15 | pseudogene (1279/2037 nt) | rhsE | pseudogene, Rhs family |
| Reads supporting (aligned to +/- strand): ref base T (0/1); new base C (8/6); total (8/7) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 4.67e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 | |||||||||||
GCTGGAGGAAGAAATCCGGGCAGACCGCGTGAGCAGTGAAAGCCGGGCGTGGCTTGCGCAGTGCGGGCTGACGGTGGAGCAACTGGCCAGACAGGTGGAGCCGGAATACACACCGGCGCGAAAAGTTCATTTTTACCACTGCGACCACCGGGGCCTGCCGCTGGCGCTCATCAGCGAAGACGGCAATACGGCGTGGCGCGGGGAGTATGATGAATGGGGCAACCAGCTTAATGAGGAGAACCCGCATCACCTGCACCAGCCGTACCGTCTGCCAGGG > NC_000913_3_hsa_pgi/1529050‑1529326 | gCTGGCGGAAGAAATCCGGGCAGACCGCGTGAGCAGTGAAAGCCGGGCGTGGCTTGCGCAGTGCGGGCTGACGGTGGAGCAACTGGCCAGACAGGTGGAGCCGGAATACACACCGGCGCGAAATTTTTTTTTTTTTTACTGCGACCACCg < 2:1091192/150‑1 (MQ=11) cacacCGGCGCGAAAAGCTCATCTTTATCACTGCGACCACCGGGGACTGCCGCTGGCGCTTATCAGCGAAGACGGCAATACGGCGTGGCGCGGGGAGTATGATGAATGGGGCAACCAGCTTAATGAGGAGAACCCGCATCACCTGCACCa > 2:239636/1‑150 (MQ=11) acacCGGCGCGAAAAGCTCATCTTTATCACTGCGACCACCGGGGACTGCCGCTGGCGCTTATCAGCGAAGACGGCAATACGGCGTGGCGCGGGGAGTATGATGAATGGGGCAACCAGCTTAATGAGGAGAACCCGCATCACCTGCACCAg < 1:1441916/150‑1 (MQ=11) acacCGGCGCGAAAAGCTCATCTTTATCACTGCGACCACCGGGGACTGCCGCTGGCGCTTATCAGCGAAGACGGCAATACGGCGTGGCGCGGGGAGTATGATGAATGGGGCAACCAGCTTAATGAGGAGAACCCGCATCACCTGCACCAg < 2:528923/150‑1 (MQ=11) cGGCGCGAAAAGCTCATCTTTATCACTGCGACCACCGGGGACTGCCGCTGGCGCTTATCAGCGAAGACGGCAATACGGCGTGGCGCGGGGAGTATGATGAATGGGGCAACCAGCTTAATGAGGAGAACCCGCATCACCTGCACCAGCCGt > 1:378258/1‑150 (MQ=11) ggCGCGAAAAGCTCATCTTTATCACTGCTACAAACGGGGACTGCCGCTGGCGCTTATCAGAGAAGACGGCAATACGGCGTGGCGCGGGGAGTAAGAGGAATGGGGCAACCAGCTGAATGAGGAGCACCCGCATCACCGGCACCAGCCGTa > 2:981548/1‑150 (MQ=11) gcgcGAAAAGCTCATCTTTATCACTGCGACCACCGGGGACTGCCGCTGGCGCTTATCAGCGAAGACGGCAATACGGCGTGGCGCGGGGAGTATGATGAATGGGGCAACCAGCTTTATGAGGAGAACCCGCATCACCTGCACCAGCCGTAc > 2:779190/1‑150 (MQ=11) gcgAAAAGGTCATCTTTATCACTGCGACCACCGGGGACTGCCGGTGGCGCTTATCAGCGAAGACGGCAATTCGGCGTGGCGCGGGGAGTATGATGAATGGGGCAACCAGCTTAATGAGGAGAACCCGCATCACCTGCACCAGCCGTACCg < 2:337302/150‑1 (MQ=11) gcgAAAAGCTCATCTTTATCACTGCGACCACCGGGGACTGCCGCTGGCGCTTATCAGCGAAGACGGCAATACGGCGTGGCGCGGGGAGTATGATGAATGGGGCAACCAGCTTAATGAGGAGAACCCGCATCACCTGCACCAGCCGTACCg < 1:1208897/150‑1 (MQ=11) cgAAAAGCTCATCTTTATCACTGCGACCACCGGGGACTGCCGCTGGCGCTTATCAGCGAAGACGGCAATACGGCGTGGTGCGGGGAGTATGATGAATGGGGCAACCAGCTTAATGAGGAGAACCCGCATCACCTGCACCAGCCGTACCGt > 1:1198533/1‑150 (MQ=11) gAAAAGCTCATCTTTATCACTGCGACCACCGGGGACTGCCGCTGGCGCTTATCAGCGAAGACGGCAATACGGCGTGGCGCGGGGAGTATGATGAATGGGGCAACCAGCTTAATGAGGAGAACCCGCATCACCTGCACCAGCCGTACCGTc < 2:964737/150‑1 (MQ=11) gctCATCTTTATCACTGCGACCACCGGGGACTGCCGCTGGCGCTTATCAGCGAAGACGGCAATACGGCGTGGCGAGGGGAGTATTATGAATGGGGCAACCATCTTAATGAGGAGAACACGCATCACCTGCACCAGCCGTACCGTCTGCCa > 2:311774/3‑150 (MQ=11) ctCATCTTTATCACTGCGACCACCGGGGCCTGCCGCTGGCGCTTATCAGCGAAGACGGCAATACGGCGTGGCGCGGGGAGTATGATGAATGGGGCAACCAGCTTAATGAGGAGAACCCGCATCACCTGCACCAGCCGTACCGTCTGCCAg < 1:306736/149‑1 (MQ=255) ctCATCTTTATCACTGCGACCACCGGGGACTGCCGCTGGCGCTTATCAGCGAAGACGGCAATACGGCGTGGCGCGGGGAGTATGATGAATGGGGCAACCAGCTTAATGAGGAGAACCCGCATCACCTGCACCAGCCGTACCGTCTGCCAg > 2:1049032/2‑150 (MQ=255) cATCTTTATCACTGCGACCACCGGGGACTGCCGCTGGCGCTTATCAGAGAAGACGGCAATACGGCGTGGCGCGGGGAGTATGATGAATGGGGCAACCAGCGTAATGAGGAGACCCCGCATCACCTGCCCCAGCCGTACCGTCTGCCAggg > 1:1479445/1‑150 (MQ=11) | GCTGGAGGAAGAAATCCGGGCAGACCGCGTGAGCAGTGAAAGCCGGGCGTGGCTTGCGCAGTGCGGGCTGACGGTGGAGCAACTGGCCAGACAGGTGGAGCCGGAATACACACCGGCGCGAAAAGTTCATTTTTACCACTGCGACCACCGGGGCCTGCCGCTGGCGCTCATCAGCGAAGACGGCAATACGGCGTGGCGCGGGGAGTATGATGAATGGGGCAACCAGCTTAATGAGGAGAACCCGCATCACCTGCACCAGCCGTACCGTCTGCCAGGG > NC_000913_3_hsa_pgi/1529050‑1529326 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 14 ≤ ATCG/ATCG < 15 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 36 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |