| 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 | . | 92.9% | 104.3 / 3.0 | 28 | 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 . (9/17); minor base A (1/1); total (10/18) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 7.04e-01 | |||||||||||
TTGAAGAAATAGGGGCTTTTGCGCCCGGATTTCAGCGTAAACTCGCCAAACTTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGA‑GTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCC > NC_000913_3_hsa_tpiA/3815662‑3815947 | ttGAAGAAATAGGGGCTTTTACGCCCGGATTTCAGCGTAAACTCGCCAAACTTTAACACCTGCTTGCTAAGCGCAAATTCAATACACTGGCGCTGATATGGTTTCATGCATTCCCTCCTCCTCTTACTTTTCTACAGACACAAAAAAga > 1:301714/1‑148 (MQ=255)gtGAAGAACTAGGGGCTTTTGCGCTCGGATTTCAGCGTAAACTCGCCAAACTTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAgc < 1:841581/148‑2 (MQ=255) aagaaATAGGGGCTTTTGCGCCCGGATTTCAGCGTAAACTCGCCAAACTTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAgcgac > 2:622298/1‑145 (MQ=255) aaaTAGGGGCTTTTGCGCCCGGATTTCAGCGTAAACTCGCCAAACTTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACtca > 1:608604/1‑149 (MQ=255) aaaTAGGGGCTTTTGCGCCCGGATTTCAGCGTAAACTCGCCAAACTTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGGTTCATGCCTCCGCTCCTCATATTACTCTTCTACAGACAGAAAAAA‑GCGACtca > 1:609442/1‑149 (MQ=255) ccGGATTTCAGCGTAAACTCGCCAAACTTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCGATCGCCTTAAAATTc > 2:705924/1‑149 (MQ=255) gCCAAACTTTAACACCTGCTTGCTAAGCGCAAATTCAATCAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTc < 2:785160/149‑1 (MQ=255) acacCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTAc < 1:622298/149‑1 (MQ=255) acCTGCCTGTTAAGCGCAAATTCTATAAACTGGTGCTGATATGGTTCCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCTGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACaa < 2:301714/149‑1 (MQ=255) gcttggtAAGGGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGga < 2:101146/149‑1 (MQ=255) gcttgctAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGt < 1:500289/137‑1 (MQ=255) gcttgctAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGt > 2:500289/1‑137 (MQ=255) caaaGCGCAATTTAAATTATCTTGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACCCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGgattcga < 2:134487/147‑1 (MQ=255) agtCAATAAACGTGCGCTAATATGAAATCAGGCCTTCGCTCCTCATCTGACTGTAAAACA‑AAAAAAAAAAAGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCgg < 2:82375/147‑1 (MQ=255) aTTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCgg < 1:335799/149‑1 (MQ=255) ttCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGcc < 1:250594/104‑1 (MQ=255) ttCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGcc > 2:250594/1‑104 (MQ=255) tGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGAt < 1:79977/149‑1 (MQ=255) atatGGTTTCATGCCTTCGCTCCCCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTTAGCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTAGGGCCTTTGCCAACAAGATGa < 2:734826/149‑1 (MQ=255) gTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCACCAAGCTGG‑GCAGc > 2:221390/1‑149 (MQ=255) ccTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGA‑GTAGCTCTTCATg > 2:137426/1‑149 (MQ=255) ctcATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGA‑GTAGCTCTTCAt > 2:515955/1‑139 (MQ=255) ctcATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGA‑GTAGCTCTTCAt < 1:515955/139‑1 (MQ=255) agtttACTTTTCTACAAACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGA‑GTAGCTCTTCATGGGTGAACGGCTc < 2:210794/146‑1 (MQ=255) ttCTACAGACAAAAAAAA‑GCGACTCATCAGTCGTCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGACCACGCTGGT‑GTCATGGGTGAACGGCTCGCCTTCTGc < 2:608604/149‑1 (MQ=255) aacgaacgACAAAGAAAA‑GCGACTATTCAGTGGTCTTAAAAATCAGTTTGCCAGCGCCGTCTTGTGTGTCGCTACAAGGGATTCGATTCCCCTCGGGCCAGAGCCAAGAAGATGT‑GCACTTGGTCGTGGGTGAACGGCTCGCCTTCTGc < 2:609442/142‑1 (MQ=255) tCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGA‑GTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGcc < 1:137426/149‑1 (MQ=255) tCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGA‑GTAGCTCTTCATAGGTGAACGGCTCGCCTTCTGcc < 1:783165/149‑1 (MQ=255) aCAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGA‑GTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTc > 2:82860/1‑149 (MQ=255) cgACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGA‑GTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTccc < 1:440657/148‑1 (MQ=255) aCAAAAAAAAAGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCATTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGA‑GTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTcccc > 1:560134/1‑149 (MQ=255) | TTGAAGAAATAGGGGCTTTTGCGCCCGGATTTCAGCGTAAACTCGCCAAACTTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGA‑GTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCC > NC_000913_3_hsa_tpiA/3815662‑3815947 |
| 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: ‑ |