| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | NC_000913_3_hsa_tpiA | 1,269,726 | C→T | 12.2% | G29S (GGC→AGC) | ldrB ← | toxic polypeptide, small |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913_3_hsa_tpiA | 1,269,726 | 0 | C | T | 12.2% | 58.3 / 4.1 | 33 | G29S (GGC→AGC) | ldrB | toxic polypeptide, small |
| Reads supporting (aligned to +/- strand): ref base C (15/14); new base T (2/2); total (17/16) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 2.43e-01 | |||||||||||
TCGGGTTGCCAATATTTACTTGTGGAAGTGATAAAGACAAAAATGGCCGCAGGCTGTTACCCCTGCGGCCGGTTTCGGGCGCATATTGCCATCACGGCAGCCTGACGCCCGTTTTCACCTTACTTCCGGTTACGCCACCAGCCGACAATCGCTGCGGTAATAATTCCCGCCAGGATCGGTGCCGCCAGGTCGTGCCAGAAAGTCATGGCAAACTGCGCGAGCGTCATATAGCCGCCTTGTTGTAATGACAACATTTTGCGGCTATTCTTGAAGTGTCTGGTTTCAA > NC_000913_3_hsa_tpiA/1269584‑1269869 | tCGGGTTGCCAATATTTACTTGTGGAAGTGATAAAGACAAAAATGGCCGCATTGTGGTCCACCTGCGGCCGGTTTCGGGCGCATATTGCCATCACGGCAGCCTGACGCCCGTTTTCACCTTACTTCCGGTTACGCCACCAGCCGACAAt > 1:583039/1‑149 (MQ=11) ccAATATTTACTTGTGGAAGTGATAAAGACAAAAATGGCCGCAGGCTGTTACCCCTGCGGCCGGTTTCGGGCGCATATTGCCATCACGGCAGCCTGACGCCCGTTTTCACCTTACTTCCGGTTACGCCACCAGCCGACAATCGCTGCgg > 2:322652/1‑149 (MQ=35) cAATATTTACTTGTGGAAGTGATAAAGACAAAAATGGCCGCAGGCTGTTACCCCTGCGGCCGGTTTCGGGCGCATATTGCCATCACGGCAGCCTGACGCCCGTTTTCACCTTACTTCCGGTTACGCCACCAGCCGACAATCGCTGCGGt > 1:262557/1‑149 (MQ=35) ttGTGGATGTGATAAAGACAAATATGGCCGCAGGCTGCTCCCCCCGCGGCCGGTTTCGGGCGCATATTGCCATCACGGCAGCCTGACGCCCGTTTTCACCTTACTTCCGGTTACGCCACCAGCCGACAATCGCTGCGGTAATAATTccc < 1:437875/149‑1 (MQ=11) gAAGTGATAAAGACAAAAATGGCCGCAGGCTGTTACCCCTGCGGCCGGTTTCGGGCGCATATTGCCATCACGGCAGCCTGACGCCCGTTTTCACCTTACTTCCGGTTACGCCACCAGCCGACAATCGCTGCGGTAATAATTCCCGCCAg > 1:515863/1‑149 (MQ=34) aGACAAAAATGGCCGCAGGCTGTTACCCCTGCGGCCGGTTTCGGGCGCATATTGCCATCACGGCAGCCTGACGCCCGTTTTCACCTTACTTCCGGTTACGCCACCAGCCGACAATCGCTGCGGCAATAATTCCCGCCAGGATCGGTgcc > 1:696867/1‑149 (MQ=17) aaaaTGGCCGCAGGCTGTTACCCCTGCGGCCGGTTTCGGGCGCATATTGCCATCACGGCAGCCTGACGCCCGTTTTCACCTTACTTCCGGTTACGCCACCAGCCGACAATCGCTGCGGTAATAATTCCCGCCAGGATCGGTGCCGCCAg < 1:258839/149‑1 (MQ=35) aaggCCGCAGGCTGTTACCCCTGCGGCCGGTTTCGGGCGCATATTGCCATCACGGCAGCCTGACGCCCGTTTTCACCTTACTTCCGGTTACGCCACCAGCCGACAATCGCTGCGGTAATAATTCCCGCCAGGATCGGt < 2:787173/136‑1 (MQ=14) aaggCCGCAGGCTGTTACCCCTGCGGCCGGTTTCGGGCGCATATTGCCATCACGGCAGCCTGACGCCCGTTTTCACCTTACTTCCGGTTACGCCACCAGCCGACAATCGCTGCGGTAATAATTCCCGCCAGGATCGGt > 1:787173/3‑138 (MQ=11) cccTGCGGCCGGTTTCGGGCGCATATTGCCATCACGGCAGCCTGACGCCCGTTTTCACCTTACTTCCGGTTACGCCACCAGCCGACAATCGCTGCGGTAATAATTCCCGCCAGGATCGGTGCCGCCAGGTCGTGCCAGAAAGTCATGGc > 1:587675/1‑149 (MQ=37) cTGCGGCCGGTTTCGGGCGCATATTGCCATCACGGCAGCCTGACGCCCGTTTTCACCTTACTTCCGGTTACGCCACCAGCCGACAATCGCTGCGGTAATAATTCCCGCCAGGATCGGTGCCGCCAGGTCGTGCCAAAAAGCCATGGCaa > 2:824887/1‑149 (MQ=255) gggCGCATATTGCCATCACGGCAGCCTGACGCCCGTTTTCACCTTACTTCCGGTTACGCCACCAGCCGACAATCGCTGCGGTAATAATTCCCGCCAGGATCGGTGCCGCCAGGTCGTGCCAGAAAGTCATGGCAAACTGCGCGAGCGTc < 1:322652/149‑1 (MQ=39) ggCGCATATTGCCATCACGGCAGCCTGACGCCCGTTTTCACCTTACTTCCGGTTACGCCACCAGCCGACAATCGCTGCGGTAATAATTCCCGCCAGGATCGGTGCCGCCAGGTCGTGCCAGAAAGTCATGGCAAACTGCGCGAGCGTCa < 2:841026/149‑1 (MQ=39) cgcATATTGCCACCACGGCAGCCTGACGCCCGTTTTCACCTTACTTCCGGTTACGCCACCAGCCGACAATCGCTGCGGTAATAATTCCCGCCAGGATCGGTGCCGCCAGGTCGTGCCAGAAAGTCATGGCAAACTGCGCGAGCGTCata < 1:373752/149‑1 (MQ=38) cATATTGCCATCACGGCAGCCTGACGCCCGGTTTCACCTTACTTCCGGTTACGCCACCAGCCGACAATCGCTGCGGTAATAATTCCCGCCAGGATCGGTGCCGCCAGGTCGTGCCAGAAAGTCATGGCAAACTGCGCGAGCGTCAtata < 2:412261/149‑1 (MQ=38) tGCCATCACGGCAGCCTGACGCCGGTTTTCACCTTACTTCCGGTTACGCCACCAGCCGACAATCGCTGCGGTAATAATTCCCGCCAGGATCGGTGCCGCCAGGTCGTGCCAGAAAGTCATGGCAAACTGCGCGAGCGTCATATAgccgc < 2:313938/149‑1 (MQ=38) cccggACGCCCGTTTCCACCTTACTTCCGGTTACGCCACCAGCCGACAATCGCTGCGGTAATAATTCCCGCCAGGATCGGTGCCCCCAGGTCGTGCCAGAAAGTCATGGCAAACTGCGCGAGCGTCATATAGCCGCCTTGTTGTAATGa < 2:506916/145‑1 (MQ=255) gCCCGTTTTCACCTTACTTCCGGTTACGCCACCAGCCGGCAATCGCTGCGGTAATAATTCCCGCCAGGATCGGTGCCGCCAGGTCGTGCCAGAAAGTCATGGCAAACTGCGCGAGCGTCATATAGCCGCCTTGTTGTAATGACAACAtt > 2:739751/1‑149 (MQ=38) cccGTTTTCACCTTACTTCCGGTGACCCCAAGAGCCGCGAGTCGCGGCGGAGATACTACCCCGCAGTAGCGCTGCGGGGTGGCCGTGCCATAAAGACATGGAAAACTGCGCGAGCGTCATATAGCCGCCTTGTTGTAATGACAACAttt > 2:625011/1‑149 (MQ=2) ccTTACTTCCGGTTACGCCACCAGCCGACAATCGCTGCGGTAATAATTCCCGCCAGGATCGGTGCCGCCAGGTCGTGCCAGAAAGTCATGGCAAACTGCGCGAGCGTCATATGGCCGCCTGGTTGTAATGGCAACATTTTGCGGCTAtt > 1:737397/1‑149 (MQ=255) ccTTACTTCCGGTTACGCCACAAGCCGACAATCGCTGCGGTAATAATTCCCGCCAGGATCGGTGCCGCCAGGTCGTGCCAGAAAGTCATGGCAAACTGCGCGAGCGTCATATAGCCGCCTTGTTGTAATGACAACATTTTGCGGCTAtt > 2:741318/1‑149 (MQ=255) ccTTACTTCCGGTTACGCCAACAGCCGACAATCGCTGCGGTATTATATTCCTCCAGGATAGCAGCCGCCAGGTCGTGCCAGAAAGTCATGGCAAACTGCGCGAGCGTCATATAGCCGCCTTGTTGTAATGACAACATTTTGCGGCTAtt > 1:830035/1‑149 (MQ=11) tACTTCCGGTTACGCCACCAGCCGACAATCGCTGCGGTAATAATTCCCGCCAGGATCGGTGCCGCCAGGTCGTGCCAGAAAGTCATGGCAAACTGCGCGAGCGTCATATAGCCGCCTTGTTGTAATGACAACATTTTGCGACTATGCtt < 2:311833/149‑1 (MQ=255) tACGTCCGGTTACGCCACCAGCCGACAATCGCTGCGGTAATAATTCCCGCCAGGATCGGTGCCGCCAGGTCGTGCCAGAAAGTCATGGCAAACTGCGCGAGCGTCATATAGCCGCCTTGTTGTAATGACAACATTTTGCGGCTATTCtt < 2:287264/149‑1 (MQ=38) ccGGTTACGCCACCAGCCGACAATCGCTGCGGTAATAATTCCCGCCAGGATCGGTGCCGCCAGGTCGTGCCAGAAAGTCATGGCAAACTGCGCGAGCGTCATATAGCCGCCTTGTTGTAATGACAACATTTTGCGGCTATTCTTGAAgt > 1:133147/1‑149 (MQ=38) ggTTACAGCACCAGCCGACAATCGCTGCGGTAATAATTCCCGCCAGGATCGGTGCCGCCAGGACGTGCCAGAAAGTCATGGCAAACTGCGCGAGCGTCATATAGCCGCCTTGTTGTAATGACAACATTTTCCGGCTATTCTTGagttgt > 2:732227/1‑144 (MQ=11) gTTACGCCACCAGCTGACAATCGCTGCGGTAATAATTCCCGCCAGGATCGGTGCCGCCAGGTCGTGCCAGAAAGTCATGGCAAACTGCGCGAGCGTCATATAGCCGCCTTGTTGTAATGACAACATTTTGCGGCTATTCTTg < 1:476956/142‑1 (MQ=17) gCCACCAGCTGACAATCGCTGCGGTAATAATTCCCGCCAGGATCGGTGCCGCCAGGTCGTGCCAGAAAGTCATg < 2:822902/74‑1 (MQ=255) gCCACCAGCTGACAATCGCTGCGGTAATAATTCCCGCCAGGATCGGTGCCGCCAGGTCGTGCCAGAAAGTCATg > 2:188700/1‑74 (MQ=21) gCCACCAGCTGACAATCGCTGCGGTAATAATTCCCGCCAGGATCGGTGCCGCCAGGTCGTGCCAGAAAGTCATg > 1:822902/1‑74 (MQ=19) gCCACCAGCCGACAATCGCTGCGGTAATAATTCCCGCCAGGATCGGTGCCGCCAGGTCGTGCCAGAAAGTCATg < 1:188700/74‑1 (MQ=255) caccaGCCGACAATCGCTGCGGTAACAATTCCAGATAGAATCGGAGGTGCAGCGTCAGGAAGGAGAGTCGAAAGAAACTTCGGTAGCTCCATAGAGCCGCCTTGTGGTAATGACAACATTTTGCGGCTATTCTTGAAGTGTCTGGTTTc < 2:830035/149‑1 (MQ=2) ccaGCCGACAATCGCTGCGGTAATAATTCCCGCCAAAATCAGTTCCGCCAGGTCGTGCCAGAAAGTCATGGCAAACTGCGCGAGCGTCATATAGCCGCCTTGTTGTAATGACAACATTTTGCGGCTATTCTTGAAGTGTCTGGTTTCaa < 1:574376/149‑1 (MQ=255) cGACAATCGCTGCGGTAATAATTCCCGCCAGGATCGGTGCCGCCAGGTCGTGCCAGAAAGTCAt < 1:9777/64‑1 (MQ=255) | TCGGGTTGCCAATATTTACTTGTGGAAGTGATAAAGACAAAAATGGCCGCAGGCTGTTACCCCTGCGGCCGGTTTCGGGCGCATATTGCCATCACGGCAGCCTGACGCCCGTTTTCACCTTACTTCCGGTTACGCCACCAGCCGACAATCGCTGCGGTAATAATTCCCGCCAGGATCGGTGCCGCCAGGTCGTGCCAGAAAGTCATGGCAAACTGCGCGAGCGTCATATAGCCGCCTTGTTGTAATGACAACATTTTGCGGCTATTCTTGAAGTGTCTGGTTTCAA > NC_000913_3_hsa_tpiA/1269584‑1269869 |
| 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: ‑ |