| Predicted mutation | ||||||
|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | annotation | gene | description |
| RA | NC_000913_3_hsa_tpiA | 4,111,481 | G→T | intergenic (+796/+116) | cdh → / ← yiiQ | CDP‑diacylglycerol phosphotidylhydrolase/DUF1454 family putative periplasmic protein |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913_3_hsa_tpiA | 4,111,481 | 0 | G | T | 98.2% | 164.7 / NA | 57 | intergenic (+796/+116) | cdh/yiiQ | CDP‑diacylglycerol phosphotidylhydrolase/DUF1454 family putative periplasmic protein |
| Reads supporting (aligned to +/- strand): ref base G (0/0); major base T (29/27); minor base A (1/0); total (30/27) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.99e-01 | |||||||||||
AAGTCGATATAGGCAGTAGGGGGAGCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAG > NC_000913_3_hsa_tpiA/4111338‑4111625 | aaGTCGATATAGGCAGTAGGGGGAGCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGgcgc < 1:571917/149‑1 (MQ=255) gTCGATATAGGCAGTAGGGGGAGCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCa > 1:232408/1‑149 (MQ=255) tCGATATAGGCAGTAGGGGGAGCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCAt > 1:473140/1‑149 (MQ=255) tataGGCAGTAGGGGGAGCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTa < 1:675580/149‑1 (MQ=255) ataGGCAGTAGGGGGAGCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTaa < 2:86055/149‑1 (MQ=255) aGGCAGTAGGGGGAGCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAGCTTCCTGGAATGCGCCCTTTTAAtt > 2:33062/1‑149 (MQ=255) aGGCAGTAGGGCGAGCACACACCACGTCGGCGTCGGCCGTCACCTTGGCCGCGTTCAGAGTGTCGATGAGCTCCCCTAGTCTCTGCTTCCGCCCGGTCATCTTCCAGTGTCCCCCATCGAAGAACTTCCTGGATGGCGCCATTTTAAtt < 2:212562/149‑1 (MQ=255) aGTAGGGGGAGCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATTCTcc > 2:615986/1‑149 (MQ=255) ggAGCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTaa < 2:480348/136‑1 (MQ=255) ggAGCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTaa > 1:480348/1‑136 (MQ=255) gAGCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATTCTCCACGCTtat > 2:590721/1‑149 (MQ=255) gCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATTCTCCACGCTTATaa > 1:206134/1‑149 (MQ=255) cacaAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATTCTCCACGCTTATAAg > 2:391981/1‑149 (MQ=255) acaAACCCCCTCGGTGGCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATTCTCCACGCTTATAAGc < 2:204329/149‑1 (MQ=255) acaAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATTCTCCACGCTTATAAGc < 1:447536/149‑1 (MQ=255) aaaCCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGCACTTCCTGGATGGCGCCATTCTAATTCTCCCCCCGTATAAGCGa > 1:502245/1‑149 (MQ=255) atccaccTCGGTGTCGTCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATTCTCCACGCTTATAAGCGaa < 2:470079/147‑1 (MQ=255) accaccTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATTCTCCACGCTTATAAGCGAAt > 2:781956/1‑149 (MQ=255) cTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATTCTCCACGCTTTTAAGCGCATAAAgg > 1:371947/1‑149 (MQ=255) cTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAg < 1:1058839/149‑1 (MQ=255) cTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCAGTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAg > 2:669134/1‑149 (MQ=255) tGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGaa < 1:590721/149‑1 (MQ=255) tGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAAATGGCCGCCCCGCAGGGCAGCAGGTCTGTGaa > 1:200537/1‑149 (MQ=255) gacGATGGGCTCCCCGAGACTCTGGTTCCGCCCGGTCATCTTCCAGTTGCCCCCAACGAAGAACTTCCTGGATGGCGGCATTTTAATTCTCCACGCTTATAATGGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGaaa < 2:434141/147‑1 (MQ=255) tCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATagag > 2:626458/1‑149 (MQ=255) cccAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGAtt > 2:622475/1‑149 (MQ=255) ctctGCTTCCCCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTTAAACAGTATAGAGATTCATCgg < 1:399071/149‑1 (MQ=255) tctGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGc > 2:622481/1‑149 (MQ=255) ctGCTTCCGCCCGTTCATCTTCCAGTTTCCCACAACGAAGAACTACCTGGATGGCACCATTTTAATTCTCCCCGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCGGGGCAGCAGGCCTGTGAAACAGTATAGAGATTGATCGGca > 1:161326/1‑149 (MQ=255) tCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGCCCGCCCCGGAGGGCAGCAGGTCTGTGAAACAATTTAGAGATTCATCGTCACaacg > 2:676811/1‑147 (MQ=255) cGTTCATCTTCCTGTTTCCCCCAACGAAGAACTTCCTGTATGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGgctttg < 1:199289/149‑1 (MQ=255) gTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGgctttgc > 2:530616/1‑149 (MQ=255) cATCTTCCAGTTTCCCCCAACGAAGAACTTCCTTCATGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGgctttgcttt < 1:404601/149‑1 (MQ=255) aTCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGCCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGACCGCCCCGCAGGGCAGCAGATCTGTGAAAAAGTATAGCGCTTCACCGGCACAAAGGcttttctttt > 2:287504/1‑149 (MQ=255) tCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCttttt < 2:1059658/149‑1 (MQ=255) ttCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGt < 1:422920/149‑1 (MQ=255) ccAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACACAGGCTTTGCTTTTTGTCa > 1:830608/1‑149 (MQ=255) gTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCAttt > 2:406814/1‑149 (MQ=255) tCCCCCACCGAAGAACTTCCTGGATGGCGCCATTTTGATTCGCCACGCGTATAAGCGACGAAAGGAAGATGGCCGCCCCGCAGCGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTAtt < 2:597752/149‑1 (MQ=255) tCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCATGGACGCGGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTAtt < 1:423001/149‑1 (MQ=255) ccgaCGAAGAACTCCCTGGATGGCGCCATTGTACTTGTCCACGCTTCTATTTGAAGTAAGGAAGATGGCCGCGCCGCATGGCATCAGGTCTGTGAAACAGTATAGAGATTCAGCGGCATATAGGGGTTGCGTGTTGTCATTTATTCaag < 2:290112/146‑2 (MQ=255) ccAACGAAGAACTTCCTGGATGGCGCCATTTTAATTCTCCACGCTTATAAGCGGATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCGTCGGCACAAAGGAGTTGCTTTTTGTCATTTATTCaaa > 1:794543/1‑149 (MQ=255) ccAACGAAGAACTTCCTGGATGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCaaa > 1:216643/1‑149 (MQ=255) aaCGAAGAACTTCCTGGATGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAAcc > 1:883033/1‑149 (MQ=255) aCGAAGAACTTCCTGGATGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAggg < 1:758101/78‑1 (MQ=255) aCGAAGAACTTCCTGGATGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAggg > 2:758101/1‑78 (MQ=255) gaagaaCTTCCTGGATGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGgcttt < 1:84457/123‑1 (MQ=255) gaagaaCTTCCTGGATGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGgcttt > 2:84457/1‑123 (MQ=255) gaagaaCTTCCTGGATGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTc < 1:357053/149‑1 (MQ=255) agaaCTTCCTGGATGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCaa < 1:225264/149‑1 (MQ=255) aCTTCCTGGATGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCg > 1:116970/1‑149 (MQ=255) cTTCCTGGATGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGa < 2:283105/149‑1 (MQ=255) cTTCCTGGATGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGa < 2:206134/149‑1 (MQ=255) tCCTGGATGGCGCCATTTTAATTCTCCACGCTGATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGAtt < 2:390199/149‑1 (MQ=255) cTGGATGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCa < 1:615986/149‑1 (MQ=255) tGGATGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAg > 1:472692/1‑149 (MQ=255) tGGATGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAg > 1:472644/1‑149 (MQ=255) | AAGTCGATATAGGCAGTAGGGGGAGCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAG > NC_000913_3_hsa_tpiA/4111338‑4111625 |
| 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: ‑ |