| Predicted mutation | ||||||
|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | annotation | gene | description |
| RA | NC_000913_3_hsa_tpiA | 4,111,530 | +T | intergenic (+845/+67) | 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 | 4,111,530 | 1 | . | T | 96.0% | 157.3 / ‑0.5 | 50 | intergenic (+845/+67) | cdh/yiiQ | CDP‑diacylglycerol phosphotidylhydrolase/DUF1454 family putative periplasmic protein |
| Reads supporting (aligned to +/- strand): ref base . (1/1); new base T (23/25); total (24/26) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.59e-01 | |||||||||||
GGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGG‑CC‑GCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAGCCCCTTT > NC_000913_3_hsa_tpiA/4111382‑4111669 | cgccggcACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGg‑cc < 2:1158844/148‑1 (MQ=255) gccggcACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGg‑cct > 1:798440/1‑148 (MQ=255) cggcACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGg‑cctgc < 2:113138/149‑4 (MQ=255) ctgtgCCGCGCTCATAGTGCTCATGAGCTTCCCCAGACTCTGCCTCTCCCCGTTCATCTTCCAGTTTCCCCCAAGGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGG‑CCTGCCCCGCa < 2:357167/145‑1 (MQ=255) cTTGGCCGCGTTCAGAGTGCCGATGAGATCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGACGATGG‑CCTGCCCCGCa > 2:1223047/1‑149 (MQ=255) tgggCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGG‑CCTGCCCCGCAg < 1:991756/147‑1 (MQ=255) gCCGCTCTCATAGTCCCGATGAGCTTCCCCAGCCTCTGCTTCCGCCCGTTCATCCTCCACTTTCCCCCAACGAACAACTTCCTGGAGTGCGCCATTTTAACTCTCCACGCTTATATGCGAATAAATGAAGATGG‑CCTTCCCCTCAGGgc < 2:249315/149‑1 (MQ=255) gCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGG‑CCTGCCCCGCAGGgc > 1:1171093/1‑149 (MQ=255) cgcgTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCACCGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATCAGCGAATAAAGGAAGATGG‑CCTGCCCCGCCGGgcag > 1:281843/1‑149 (MQ=255) cgcgTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTATCCACGCTTATAAGCGCATAAAGGAAGATGG‑CCTGCCCCGCAGGgcag > 1:428792/1‑149 (MQ=255) tCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGG‑CCTGCGCCGCAGGGCAGCAGGt < 1:1085734/149‑1 (MQ=255) cggATGGGCGCCCCCAGCCTCGGCTTCCGCCCGTTCATCTTCCAGGTTCCCCCGACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCGCCACGCTTATAAGCGAATAAAGGAAGATGG‑CCTGCCCCGCAGGGCAGCAGGTCTGTGaaa < 2:382864/147‑1 (MQ=255) ccGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGG‑CCTGCCCCGCAGGGCAGCAGGTCTGTGaaa > 2:187868/1‑149 (MQ=255) gATGAGCTCCCCCAGACTCTGCTTCCGCCCATTCATCTGCCTGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGG‑CCTGCCCCGCAGGGCAGCAGGTCTGTGAAACa < 1:343547/149‑1 (MQ=255) ggCTCCCGCAGTCTGTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAACTCTCCACGCTTATAAGCGAATAAAGGAAGATGG‑CCTGCCCCGCAGGGCAGCAGGTCTGTGAAACAGtat < 2:924911/148‑1 (MQ=255) tCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGG‑CCTGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATaga < 1:1008838/149‑1 (MQ=255) ccccAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGg‑cctgcc > 1:26243/1‑110 (MQ=255) ccccAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGg‑cctgcc < 2:26243/114‑5 (MQ=255) ccccAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGG‑CCTGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAgaga < 1:677605/149‑1 (MQ=255) ccccAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGG‑CCTGCCCCGCAGGGCAGCAGGGCTGTGAAACAGTATAgaga > 1:127555/1‑149 (MQ=255) cccAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTGTAAGCGAATAAAGGAAGATGG‑CCTGCCCCGCAGGGCAGCAGGTCTGTGaaa < 2:955081/137‑1 (MQ=255) cccAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTGTAAGCGAATAAAGGAAGATGG‑CCTGCCCCGCAGGGCAGCAGGTCTGTGaaa > 1:955081/1‑137 (MQ=255) cccAGACTCTGCTTCCGCCCGTTCATATTCCAGTTTCCCCCAACGAAGAGCTTCCTAGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGA‑CC‑GCCCCGCAGGGCCGCAGGTCTGTGAAACAGTCTAGAAAtt > 2:279296/1‑149 (MQ=255) cAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGG‑CCTGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTc > 1:156552/1‑149 (MQ=255) ctctGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGG‑CCTGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCg < 1:997925/149‑1 (MQ=255) tctGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGG‑CCTGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCgg > 1:800147/1‑149 (MQ=255) tctGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGG‑CCTGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCgg > 1:186938/1‑149 (MQ=255) gCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGG‑CCTGCCCCGCAGGGCAGCAGGTCTGTGAAACAGt > 1:842230/1‑125 (MQ=255) gCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGG‑CCTGCCCCGCAGGGCAGCAGGTCTGTGAAACAGt < 2:842230/125‑1 (MQ=255) gTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGG‑CCTGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGgctttg < 2:1173999/149‑1 (MQ=255) cATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTACCCGCTTACAGGCGTATAAAGGAATAGCA‑CCTGCCCAGCAGGGCAGCAGGTCGGTGAAACAGGATAGAGATTCATCGGCACAAAGgctttgctt > 1:1222956/1‑149 (MQ=255) cTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGG‑CCTGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTGCTCGGCACAAAGCCTTTGCttttt > 2:748691/1‑149 (MQ=255) cTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGG‑CCTGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCttttt < 1:888733/149‑1 (MQ=255) cTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGG‑CCTGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCttttt < 1:723750/149‑1 (MQ=255) tCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGG‑CCTGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGt > 1:921567/1‑149 (MQ=255) gTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGG‑CCTGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCCGCACAGAGGCGTTGCTGTTTGTCAtt > 2:2884/1‑149 (MQ=255) tCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGG‑CCTGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTAt > 2:198847/1‑149 (MQ=255) ccAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATGAAGGAAGATGG‑CCTGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCaa < 1:859132/149‑1 (MQ=255) cgaCGGAGGACTTCCTGGCGTGTGGCAGTTTAGTTCTCCGCGCTTAGAAGCGAATAAAGGAAGATGG‑CCTGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCaaa < 2:341776/147‑1 (MQ=255) caCGAAGAACTTCCTGCACGGCGTCCTTTTAATCTTCCACGCTTATAAGCGAATAAAGGAAGATGG‑CCTGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAATGCTTTGCTTTTTGTCATTTATTCAAAc < 2:418867/148‑1 (MQ=255) gaaCTTCCCGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGTCA‑TGCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCaa < 1:289704/149‑1 (MQ=255) ttCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGG‑CCTGCCCCGCAGGGCAGCAGGTCTGTGAAAGATTATAGAGATTCATCGGCACAAATGCTTAGCATTTTGGCATTTATTCAAACCTTCAAGcta < 2:767977/149‑3 (MQ=255) ttCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGG‑CCTGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGa < 1:931204/149‑1 (MQ=255) gcCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGG‑CCTGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATACAAACCTTCAAGCGATTCAGATAgcgc < 1:198847/149‑1 (MQ=255) cATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGG‑CCTGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCa > 1:197294/1‑149 (MQ=255) cACGCTTATAAGCGAATAAAGGAAGATGG‑CCTGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAATCGATTCAGATAGCGCCAGCTTAATCGGTTc < 2:907348/149‑1 (MQ=255) cACGCTTATAAGCGAATAAAGGAAGATGG‑CCTGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTc < 1:788416/149‑1 (MQ=255) gCTTATAAGCGAATAAAGGAAGATGG‑CCTGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGCCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAAc > 2:1157634/1‑149 (MQ=255) ttATAAGCGAATAAAGGAAGATGG‑CCTGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATATCGCCAGCGGAATCGTTTCAACAg > 1:259772/1‑149 (MQ=255) aaTAAAGGAAGATGG‑CCTGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCCCAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAGTCGGTTCCACAGCCAAgttgc > 2:80798/1‑145 (MQ=255) tAAAGGAAGATGG‑CCTGCCCCGCAGGGCAGCAGGTCTGTTAAACAGTATAGAGATTCATCGGCACAAAGGCCTTGCTTTTTGTCATTTATTAAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCaac < 1:187868/149‑3 (MQ=255) aaaGGAAGATGG‑CCTGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAAcc > 2:917639/1‑149 (MQ=255) aaGGAAGATGG‑CCTGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGACTCAGATAGCGCCAGCTTAATCGGTTCAACACCGAAGGCCAAccc > 2:651778/1‑149 (MQ=255) ggAAGATGG‑CCTGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCt > 1:773949/1‑149 (MQ=255) aaGAGGG‑CCTGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAAGCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCttt < 2:1222956/149‑1 (MQ=255) | GGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGG‑CC‑GCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAGCCCCTTT > NC_000913_3_hsa_tpiA/4111382‑4111669 |
| 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: ‑ |