Predicted mutation | |||||||
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evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_000913_3_hsa_pgi | 383,153 | C→T | 10.3% | L261L (CTG→CTA) | yaiP ← | putative family 2 glycosyltransferase |
Read alignment evidence... | |||||||||||
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seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | NC_000913_3_hsa_pgi | 383,153 | 0 | C | T | 10.3% | 105.2 / 2.6 | 45 | L261L (CTG→CTA) | yaiP | putative family 2 glycosyltransferase |
Reads supporting (aligned to +/- strand): ref base C (20/19); new base T (2/3); total (22/23) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.94e-01 |
CCAACACCACTCCATGCGGCCCGGTGGTGATGAATTCATTAAACCAGGTAGTGAGATAAATCCCAACGCCATAAAGCACAACCAACAGCATAGGAAATATACTGAAGATACCGAAGCGGCTAAATAAAAGTCTTTTATGCAGGCGCATACAGACCGCGTATCCCACAATCCAACGCCGCCAGCGACGCCACTCCTCACGCGGGCTGTTGCATTCCTGTGGGTATACGATGCAGCGATTCGCCTGCCGAATACGGTAGCCGTTTGCCACCAATGTCCAGGTGAGA > NC_000913_3_hsa_pgi/383014‑383297 | ccAACACCACTCCATGCGGCCCGGTGGTGATGAATTCATTAAACCAGGTAGTGAGATAAATCCCAACGCCATAAAGCACAACCAACAGCATAGGAAATATACTGAAGATACCGAAGCGGCTAAATAAAAGTCTTTTATGCAGGCGCATa > 1:519606/1‑149 (MQ=255) accacTCCATGCGGCCCGGTGGTGATGAATTCATTAAACCAGGTAGTGAGATAAATCCCAACGCCATAAAGCACAACCAACAGCATAGGAAATATACTGAAGATACCGAAGCGGCTAAATAAAAGTCTTTTATGCAGGCGCATACAGAc > 1:403316/1‑149 (MQ=255) cacTCCATGCGGCCCGGTGGTGATGAATTCATTAAACCAGGTAGTGAGATAAATCCCAACGCCATAAAGCACAACCAACAGCATAGGAAATATACTGAAGATACCGAAGCGGCTAAATAAAAGTCTTTTATGCAGGCGCATACAGACcg > 1:796869/1‑149 (MQ=255) gcTCCATGGGGTCCGGTGGTGATGAATTCATGAAACCAGTTAGTGAGATAAAGCCCAACGCCATAAAGCACAACCAACAACATAGGAAATATACTGAAGATACCGAAGCGGCTAAATAAAAGTCTTTTATGCAGGCGCATACAGACcgc < 2:152668/148‑1 (MQ=255) acTCCATGCGGCCCGGTGGTGATGAATTCATTAAACCAGGTAGTGAGATAATTCCCATCGCCATAAAGCACAACCAACAGCATAGGAAATATACTGAAGATACCGAAGCGGCTAAATAAAAGTCTTTTATGCAGGCGCATACAGACcgc < 1:291780/149‑1 (MQ=255) gggggatgaATTTATAAAAGCATGTAGCATGATAAAGCACAACGCCATAAAGCACAGCCAAAAGCATAGGAACTATACTGAAGATACCGAAGCGGCTAAATAAAAGTCTTTTATGTTGTTTCTGACAGGCCGCGTATCCCACAATCCaa < 2:565087/145‑1 (MQ=255) tgtgATTAATTCATTAAAACTGGTAGTGTGATAAATCCCAACGCCATAAAGCATAACCAACAACATAGGAAATATACTGAAGAAACCGAAGCGGCTAAATAAAAGTCTTTTATGCAGGCGCATACAGACCGCGTATCCCACAATCCAAc < 1:336118/148‑1 (MQ=255) gtgATGAATTCATTAAACCAGGTAGTGAGATAAATCCCAACGCCATAAAGCACAACCAACAGCATAGGAAATATACTGAAGATACCGAAGCGGCAAAATAAAAATCATTTATGCAGGAGCATACAGACCGCGTATCCCACAATCCAAcg > 1:359661/1‑149 (MQ=255) atgaATTCATTAAACCAGGTAGTGAGATAAATCCCAACGCCATAAAGCACAACCAACAGCATAGGAAATATACTGAAGATACCGAAGCGGCTAAATAAAAGTCTTTTATGCAGGCGCATACAGACCGCGTATCCCACAATCCAAcgccg > 2:601675/1‑149 (MQ=255) tAAACCAGGTAGTGAGATAAATCCCAACGCCATAAAGCACAACCAACAGCATAGGAAATATACTGAAGATACCGAAGCGGCTAAATAAAAGTCTTTTATGCAGGCGCATACAGACCGCGTATCCCACAATCCAACGCCGCCAGCGACGc < 1:923125/149‑1 (MQ=255) ccAGGTAGTGAGATAAATCACAACGCCATAAAGCCCAACCAACAGCATAGGAAATATACTGAAGATACCGAAGCGGCTAAATAAAAGTCTTTTATGCAGGGGCATACAGACCGCGTACCCCACAATCCCACGGCGGCCGccactccact > 2:708266/1‑149 (MQ=255) ggTAGTGAGATACATCCCAACGCCATAAAGCACAACCAACAGCATAGGAAATATACTGAAGATACCGAAGCGGCTAAATAAAAGTCTTTTATGCAGGCGCATACAGACCGCGTATCCCACAATCCAACGCCGCCAGCGACGCCActcct < 1:110130/149‑1 (MQ=255) aGTGAGATAAATCCCAACGCCATAAAGCACAACCAACAGCATAGGAAATATACTGAAGATACCGAAGCGGCTAAATAAAAGTCTTTTATGAAGGCGCATACAGACCGCGTATCCCACAATCCAACGCCGCCAGCGACGCCACTCCTCAc < 1:789553/149‑1 (MQ=255) gTGAGATAAATCCCAACGCCATAAAGCACAACCAACAGCATAGGAAATATACTGAAGATACCGAAGAGGATCAATAACAGTCTTTTTTTCAGGCGCATACAGCCCGCGTATCCCACAATCCAACGCCGCCAGCGACGCCACTCCTCAcc > 2:362771/1‑148 (MQ=255) cagaaaCCCCAACGCCATAAAGCACAACCAACAGCATAGGAAATATACTGAAGATACCGAAGCGGCTAAATAAAATTCTTTTATGCAGGCGCATACAGACCGCGTATCCCACAATCCAACGCCGCCAGCGACGCCACTCCTCCCGCggg < 2:320713/146‑1 (MQ=255) aTCCCAACGCCATAAAGCACAACCAACAGCATAGGAAATATACTGAAGATACCGAAGCGGCTAAATAAAAGTCTTTTATGCAGGCGCATACAGACCGCGTATCCCACAATCCAACGCCGCCAGCGACGCCACTCCTCACGCGGGCTGtt > 2:75206/1‑149 (MQ=255) tCCGAACGCCATAAAGGACAACCAACAGCATAGGAAATATACTGAAGATACCGAAGCGGCTAAATAAAAGTCTTTTATGCAGGCGCATACAGACCGCGTATCCCACAATCCAACGCCGCCAGCGACGCCACTCCTCACGCGGGCTGTTg < 2:681830/149‑1 (MQ=255) cAACGCCATAAAGCACAACCAACAGCATAGGAAATATACTGAAGATACCGAAGCGGCTAAATAAAAGTCTTTTATGCAGGCGCATACAGACCGCGTATCCCACAATCCAACGCCGCCAGCGACGCCACCCCTCACGCGGGCTGTTGCAt > 2:840182/1‑149 (MQ=255) acaccATAAAGCACAACAAACAGCATAGGAAATGTACTGAAGATACCGAAGCGGCTAAAAAAAAGACTTTTACTCTGGCGCATACTGTCCGCGTATCCCACCATCCAACGCCGCCAGCGACGCCACTCCTCACGCGGGCTGTTGCATTc < 2:362629/146‑1 (MQ=255) aCGCCATAAAGCACAACCAACAGCATAGGAAATATACTGAAGATACCGAAGCGGCTAAATAAAAGTCTTTTATGCAGGCGCATACAGACCGCGTATCCCACAATCCAACGCCGCCAGCGACGCCACTCCTCACGCGGGCTGTTGCATTc < 1:312381/149‑1 (MQ=255) aTAAAGCACAACCAACAGCATAGGAAATATACTGAAGATACCGAAGCGGCTAAATAAAAGTCTTTTATGCAGGCGCATACAGACCGCGTATCCCACAATCCAACGCCGCCAGCGACGCCACTCCTCACGCGGGCTGTTGCATTCCtgtg > 1:152620/1‑149 (MQ=255) ttaaGCACAACCAACAGCATAGGAAATATACTGAAGATACGGAAGCGGTTAAATAAAAGTCTTTTATGCAGGCGCATACAGACCGCGTATCGCACAATCCAACGCCGCCAGAGACGCCACTCCTCACGCGGGCTGTTGCATTCCTGTgg < 2:289526/147‑1 (MQ=255) gaaaGCACACCCAACAGTAGAGGAAGTATGAGCAAGATACCGAAGCGGCTAAAGAAAAGTCTGTTTTGCAGGTGCATACAGACCGCGTATTCCACAATCTAACGCCGCCAGCGACGCCACTCCTCACGCGTGCTGTTGCATTCCTGTgg < 2:438564/148‑1 (MQ=255) gCACAACCAACAGCATAGGAAATATACTGAAGATACCGAAGCGGCTAAATAAAAGTCTTTTATGCAGGCGCATACAGACCGCGTATCCCACAATCCAACGCCGCCAGCGACGCCACTCCTCACGCGGGCTGTTGCATTCCTGTGGGtat > 1:214506/1‑149 (MQ=255) cacaACCAACAGCATAGGAAATATACTGAAGATACCGAAGCGGCTAAATAAAAGTCTTTTATGCAGGCGCATACAGACCGCGTATCCCACAATCCAACGCCGCCAGCGACGCCACTCCTCACGCGGGCTGTTGCATTCCTGTGGGtata < 1:601675/149‑1 (MQ=255) aaccaacAGCATAGGAAATAGACTGAAGATACCGAAGCGGCTAAATAAAAGTCTTTTATGCAGGCGCATACAGACCGCGTATCCCACAATCCAACGCCGCCAGCGACGCCACTCCTCACGCGGGCTGTTGCATTCCTGTGGGTATACGa < 1:918695/149‑1 (MQ=255) accaacAGCATAGGAAATATACTGAAGATACCGAAGCGGCTAAATAAAAGTCTTTTATGTAGGCGCATACAGACCGCGTATCCCACAATCCAACGCCGCCAGCGACGCCACTCCTCACGCGGGCTGTTGCATTCCTGTGGGTATACGAt > 2:495896/1‑149 (MQ=255) accaacAGCATAGGAAATATACTGAAGATACCGAAGCGGCTAAATAAAAGTCTTTTATGTAGGCGCATACAGACCGCGTATCCCACAATCCAACGCCGCCAGCGACGCCACTCCTCACGCGGGCTGTTGCATTCCTGTGGGTATACGAt > 2:495589/1‑149 (MQ=255) aacAGCATAGGAAATATACTGAAGATACCGAAGCGGCTAAATAAAAGTCTTTTATGCAGGCGCATACAGACCGCGTATCCCACAATACAACGCCGCCAGCGACGCCACTCCTCACGCGGGCTGTTCCATTCCTGTGGGTATACGATGcg > 1:707037/1‑148 (MQ=255) gAAATATACTGAAGATACCGAAGCGGCTAAATAAAAGTCTTTTATGCAGGCGCATACAGACCGCGTATCCCACAATCCAACGCCGCCAGCGACGCCACTCCTCACGCGGGCTGTTGCATTCCTGTGGGTATACGATGCAGCGATTCGcc > 1:697068/1‑149 (MQ=255) atatACTGAAGATACCGAAGCGGCTAAATAAAAGTCTTTTATGCAGGCGCATACAGACCGCGTATCCCACAATCCAACGCCGCCAGCGACGCCACTCCTCACGCGGGCTGTTGCATTCCTGTGGGTATACGATGCAGCGATTCGCCTGc > 1:768213/1‑149 (MQ=255) cTGAAGATACCGAAGCGGCTAAATAAAAGTCTTTTATGCAGGCGCATACAGACCGCGTATCCCACAATCCAACGCCGCCAGCGACGCCACTCCTCACGCGGGCTGTTGCATTCCTGTGGGTATACGATGCAGCAATTCGCCTGCCGAAt > 2:479653/1‑149 (MQ=255) aTACCGAAGCGGCTAAATAAAAGTCTTTTATGCAGTCGCATACAGACCGCGTATCCCACAATCCAACGCCGCCAGCGACGCCACTCCTCACGCGGGCTGTTGCATTCCTGTGGGTATACGATGCAGCGATTCGCCTGCCGAATACGGTa < 2:748519/149‑1 (MQ=255) ccGAAGCGGCTAAATAATAGTCTTTTATGCAGGCGCATACAGACCGCGTATCCCACAATCCAACGCCGCCAGCGACGCCACTCCTCACGCGGGCTGTTGCATTCCTGTGGGTATACGATGCAGCGATTCGCCTGCCGAATACGGTAGcc < 1:26350/149‑1 (MQ=255) taaGCGGCTAAATAAAAGTCTTTTATGCAGGCGCATACAGACCGCGTATCCCACAATCCAACGCCGCCAGCGACGCCACTCCTCTCGCGGGCTGTTGCATTCCTGTGGGTATACGATGCAGCGATTCGCCTGCCGAATACGGTAGCCGt < 1:15914/148‑1 (MQ=255) cGGCTAAATAAAAGTCTTTTATGCAGGCGCATACAGACCGCGTATCCCACAATCCAACGCCGCCAGCGACGCCACTCCTCACGCGGGCTGTTGCATTCCTGTGGGTATACGATGCAGCGATTCGCCTGCCGAATACGGTAGCCGTTTGc < 1:75206/149‑1 (MQ=255) ataaaAGTCTTTTATGCAGGCGCATACAGACCGCGTATCCCACAATCCAACGCAGCCAGCGACGCCACTCCTCCCGCGGGCTCTCGCGGACCAGTTGGTATACGATGCAGCGATTCGCCTGCCGAATACGGTAGCCGTTTGACACCAAt > 1:484531/1‑149 (MQ=255) taaaAGTCTTTTATGCAGGCGCATACAGACCGCGTATCCCACAATCCAACGCCGCCAGCGACGCCACTCCTCACGCGGGCTGTTGCATTCCTGTGGGTATACGATGCAGCGATTCGCCTGCCGAATCCGGTAGCCGTTTGCCACCAATg > 1:220693/1‑149 (MQ=255) taaaAGTCTTTTATGCAGGCGCATACAGACCGCGTATCCCACAATCCAACGCCGCCAGCGACGCCACTCCTCACGCGGGCTGTTGCATTCCTGTGGGTATACGATGCAGCGATTCGCCTGCCGAATACGGTAGCCGTTTGCCACCAATg > 1:720047/1‑149 (MQ=255) aaaaGTCTTTTATGCAGGCGCATACAGACCGCGTATCCCACAATCCAACGCCGCCAGCGa > 2:386247/1‑60 (MQ=255) aaaaGTCTTTTATGCAGGCGCATACAGACCGCGTATCCCACAATCCAACGCCGCCAGCGa < 1:386247/60‑1 (MQ=255) gttttttATGCCCGCGGAAACAGACCGCGGATCCCACAATCCAACGCCGCAAGCGGCGCTCCTCTTCACGCGGGCGGTGGCATTCCGGTGGGTATACGATGCAGCGATTCGCCTGCCGAATACGGTAGCCGTTTGCCACCAATGTCCAg < 2:73392/146‑1 (MQ=255) ttttATGCAGGCGCATACAGACCGCGTATCCCACAATCCAACGCCGCCAGCGACGCCACTCCTCACGCGGGCTGTTGCATTCCTGTGGGTATACGATGCAGCGATTCGCCTGCCGAATACGGTAGCCGTTTGCCACCAATGCCCAGGtc > 2:44216/1‑148 (MQ=255) tATGTAGGCGCATACAGACCGCGTATCCCACAATCCAACGCCGCCAGCGACGCCACTCCTCACGCGGGCTGTTGCATTCCTGTGGGTATACGATGCAGCGATTCGCCTGCCGAATACGGTAGCCGTTTGCCACCAATGTCCAGGTgaga < 1:495896/149‑1 (MQ=255) gaTGTAGGCGCATACAGACCGCGTATCCCACAATCCAACGCCGCCAGCGACGCCACTCCTCACGCGGGCTGTTGCATTCCTGTGGGTATACGATGCAGCGATTCGCCTGCCGAATACGGTAGCCGTTTGCCACCAATGTCCAGGTgaga < 1:495589/148‑1 (MQ=255) | CCAACACCACTCCATGCGGCCCGGTGGTGATGAATTCATTAAACCAGGTAGTGAGATAAATCCCAACGCCATAAAGCACAACCAACAGCATAGGAAATATACTGAAGATACCGAAGCGGCTAAATAAAAGTCTTTTATGCAGGCGCATACAGACCGCGTATCCCACAATCCAACGCCGCCAGCGACGCCACTCCTCACGCGGGCTGTTGCATTCCTGTGGGTATACGATGCAGCGATTCGCCTGCCGAATACGGTAGCCGTTTGCCACCAATGTCCAGGTGAGA > NC_000913_3_hsa_pgi/383014‑383297 |
Alignment Legend |
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Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 13 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |