| Predicted mutation | ||||||
|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | annotation | gene | description |
| RA | NC_000913_3_hsa_tpiA | 3,815,810 | Δ1 bp | intergenic (‑42/+24) | pyrE ← / ← rph | orotate phosphoribosyltransferase/ribonuclease PH (defective);enzyme; Degradation of RNA; RNase PH |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913_3_hsa_tpiA | 3,815,809 | 0 | G | . | 95.7% | 191.3 / 2.7 | 46 | intergenic (‑41/+25) | pyrE/rph | orotate phosphoribosyltransferase/ribonuclease PH (defective);enzyme; Degradation of RNA; RNase PH |
| Reads supporting (aligned to +/- strand): ref base G (0/0); major base . (24/20); minor base A (1/1); total (25/21) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 2.37e-01 | |||||||||||
TTGAAGAAATAGGGGCTTTTGCGCCCGGATTTCAGCGTAAACTCGCCAAACTTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCACT > NC_000913_3_hsa_tpiA/3815662‑3815953 | ttGAAGAAATAGGGGCTTTTGCGCCCGGATTTCAGCGTAAACTCGCCAAACTTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAgc > 1:99898/1‑148 (MQ=255) tGAAGAAATAGGGGCTTTTGCGCCCGGATTTCAGCGTAAACTCGCCAAACTTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCCCCTAATCTTACTTTTCTACAGCCAAACAAAAgcg > 1:822035/1‑147 (MQ=255) aTAGGGGCTTTTGCGCCCGGATTTCAGCGTAAACTCGCCAAACTTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑CCGACtcatc > 2:18840/1‑149 (MQ=255) tAGGGGCTTTTGCGCCCGGATTTCAGCGTAAACTCGCCAAACTTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACtcatca < 2:650636/149‑1 (MQ=255) ggCTTTTGCGCCCGGATTTCAGCGTAAACTCGCCAAACTTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCg > 1:574456/1‑149 (MQ=255) gCTTTTGCGCCCGGATTTCAGCGTAAACTCGCCAAACTTTAACACCTGCTTGCTAAGCGCAAATTCACTAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGc > 2:794138/1‑149 (MQ=255) gCTTTTGCGCCCGGATTTCAGCGTAAACTCGCCAAACTTTAACACCTGCTTGCTAAGCGCAAATTCAATACACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTATCCAGCCAAAACAAA‑GCGACTCATCAGTcac > 2:257309/1‑147 (MQ=255) ttttGCGCCCGGATTTCAGCGTAAACTCGCCAAACTTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACCCATCAGTCGCCt > 2:42157/1‑149 (MQ=255) gcCCGGATTTCAGCGTAAACTCGCCAAACTTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTaaaaa > 2:703279/1‑149 (MQ=255) ccGGATTTCAGCGTAAACTCGCCAAACTTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATc > 1:468772/1‑149 (MQ=255) tattaacGTAAACGCGCTAAACTTTAACACCTACTTGCTAAGCGCAAATTCAATAAATTGGCGCTGATATGGTTTCACGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGttt < 2:119831/143‑1 (MQ=255) aGCGTAAATGCGCCAAACTTGAACACCTGCTTGCTAAGAGCAAATTCAATAAACTGGCGCTGATCTGGTTTCATGCCTTCGCTCCTCATCTTAATATTAAAAAAA‑AAAAAAAAAGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCa < 2:675450/149‑1 (MQ=255) aGCGTAAACTCGCCAAACTTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCa < 1:507502/149‑1 (MQ=255) tAAACCCGCCAAACTTTCACACCTTCTTGCAAAGCGCAAATTCAATAAACTGGCGCTGATCTGGTTTCATGCCTTCGCCCCTCATCTTAATTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAgcgc < 1:257309/149‑1 (MQ=255) tCGCCAAACTTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGGCTTAACAATCCGTTTGCCAGCGCCGCCt > 2:135783/1‑149 (MQ=255) aaaCTTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGCCGCCTTAAAAATCAGTTTGCCAgcg < 1:706657/138‑1 (MQ=255) aaaCTTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGCCGCCTTAAAAATCAGTTTGCCAgcg > 2:706657/1‑138 (MQ=255) tttAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCTCTCCTCATCTTACTTTTCTACAGACAACAAAAA‑ACGACTCATCAGTCTCCTTAAAAATCAGTTTGCCGGCCACGCATTCTGCGTCg > 2:279278/1‑149 (MQ=255) tttAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCCTCg > 2:153991/1‑149 (MQ=255) ttAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTACCAGCGCCGCCTTCTGCGTCGc > 2:240430/1‑149 (MQ=255) acgccTGCTTGCTAAGCGCAAATTCAATACGCTGGCGCCGATATCGTTTCACGCCTTCGCTCCTCATCTTAATTTGCTACAGACAAAAAAAA‑GCGACTCATCTGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTAc < 1:135783/146‑1 (MQ=255) acCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATAAATTTGCCAGCCCCGCCTTCTGCGTCGCTACaa > 1:53457/1‑149 (MQ=255) ccTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTAAACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAAt < 2:478960/149‑1 (MQ=255) tgcttgctAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATgg > 1:368891/1‑149 (MQ=255) aaGGGCAAATTCAATAAACTGCGGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTGTGCGTCGCTACAATGgattcgatt < 1:730208/149‑1 (MQ=255) aGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGgattcgattc < 1:703279/149‑1 (MQ=255) cgcAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGACAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGAATccc > 2:101226/1‑149 (MQ=255) gcAAATTCAATAAACTGGCGCTGATCTGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCCGCGCCCCCTTCTGCGACGCTACAATGGATTCGATTcccc > 1:397051/1‑149 (MQ=255) aaaCTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCagag < 2:468772/149‑1 (MQ=255) aaCTGGCGCTGGTATGGTTTCATGCCTTCGCTCCTCCTCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGc < 1:1068/149‑1 (MQ=255) cTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCca > 2:780019/1‑149 (MQ=255) gcgcTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTAGGGCCAGAGccacca > 2:57892/1‑149 (MQ=255) cTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGa < 2:99898/149‑1 (MQ=255) atatGTTTTCATGCCGTCGCTCCTCAGCTGACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGa < 2:822035/149‑1 (MQ=255) atGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCATTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGt < 1:794138/149‑1 (MQ=255) gTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTTCCCTCGGGCCAGAGCCAACAAGATGAGTAGc > 1:79256/1‑149 (MQ=255) attCATGGCAGCGCTCCTCACCTTACCTGTCTAGATACACAGAAAA‑GCGACCCATCAGTCGTCTTATAGCACCGAGTGCACTCACCGACTTCTGCGTCGCTACAATGGAGTAGATCACCCTCGCGCCAGATACCACCAGATGAGCAGct > 2:590573/2‑149 (MQ=255) aTGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTc < 1:42157/149‑1 (MQ=255) ccTGCGCGCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATg < 2:718385/149‑1 (MQ=255) ctcctcATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCcaaca > 1:584332/1‑124 (MQ=255) ctcctcATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCcaaca < 2:584332/124‑1 (MQ=255) ctcctcATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGtcag > 2:509565/1‑146 (MQ=255) tcctcATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCTCCAGTCTCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAAc < 1:655344/149‑1 (MQ=255) aTCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTc < 2:428406/149‑1 (MQ=255) ttttCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCAATTCCCCTCGGGCCAGAGCCAACAAGATTAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCt < 1:780019/149‑1 (MQ=255) aCAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTc > 1:687230/1‑149 (MQ=255) atacaaaaaaaaGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTccc < 2:244977/145‑1 (MQ=255) aCAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCACAGCCAACAAGATCAGGAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCt > 2:392752/1‑149 (MQ=255) acaaaaaaaaGCGACTCATAAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTGCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCt > 1:151000/3‑149 (MQ=255) aaaaaaaaGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTGTACCTTGCCCTGc > 1:739155/1‑149 (MQ=255) aaaaaaaaGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGc > 1:351634/1‑149 (MQ=255) aaaaAGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGAATTCGATTCCCCTCGGGCGAGAGCCAGCAAGATGAGTAGCTCTTCATCGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCaat > 1:748208/1‑147 (MQ=255) | TTGAAGAAATAGGGGCTTTTGCGCCCGGATTTCAGCGTAAACTCGCCAAACTTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCACT > NC_000913_3_hsa_tpiA/3815662‑3815953 |
| Alignment Legend |
|---|
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: ‑ |