Predicted mutation | |||||||
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evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_000913 | 1,363,704 | T→C | 8.7% | L321P (CTG→CCG) | puuC → | gamma‑glutamyl‑gamma‑aminobutyraldehyde dehydrogenase; succinate semialdehyde dehydrogenase |
Read alignment evidence... | |||||||||||
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seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | NC_000913 | 1,363,704 | 0 | T | C | 8.7% | 131.2 / 3.6 | 46 | L321P (CTG→CCG) | puuC | gamma‑glutamyl‑gamma‑aminobutyraldehyde dehydrogenase; succinate semialdehyde dehydrogenase |
Reads supporting (aligned to +/- strand): ref base T (20/22); new base C (2/2); total (22/24) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 8.62e-01 |
CGCCAACATCGTTTTCGCTGACTGCCCGGATTTGCAACAGGCGGCAAGCGCCACCGCAGCAGGCATTTTCTACAACCAGGGACAGGTGTGCATCGCCGGAACGCGCCTGTTGCTGGAAGAGAGCATCGCCGATGAATTCTTAGCCCTGTTAAAACAGCAGGCGCAAAACTGGCAGCCGGGCCATCCACTTGATCCCGCAACCACCATGGGCACCTTAATCGACTGCGCCCACGCCGACTCGGTCCATAGCTTTATTCGGGAAGGCGAAAGCAAAGGGCAACTGTTGTTGGATG > NC_000913/1363558‑1363850 | cgcCAACATCGTTTTCGCTGACTGCCCGGATTTGCAACAGGCGGCAAGCGCCACCGCAGCAGGCATTTTCTACAACCAGGGACAGGTGTGCATCGCCGGAACGCGCCTGTTGCTGGAAGAGAGCATCGCCGATGAATTCTTAGCCCTGt < 2:135608/149‑1 (MQ=255) aCATCGTTTTCGCTGACTGCCCGGATTTGCAACAGGCGGCAAGCGCCACCGCAGCAGGCATTTTCTACAACCAGGGACAGGTGTGCATCGCCGGAACGCGCCTGTTGCTGGAAGAGAGCATCGCCGATGAATTCTTAGCCCTGTTaaaa < 4:71085/149‑1 (MQ=255) aCATCGTTTTCGCTGACTGCCCGGATTTGCAACAGGCGGCAAGCGCCACCGCAGCAGGCATTTTCTACAACCAGGGACAGGTGTGCATCGCCGGAACGCGCCTGGTGCTGGAAGAGAGCATCGCCGATGAATTCTTCGCCCTGTGaaaa > 6:108190/1‑149 (MQ=255) cATCGTTTTCGCTGACTGCCCGGATTTGCAACAGGCGGCAAGCGCCACCGCAGCAGGCATTTTCTACAACCAGGGACAGGTGTGCATCGCCGGAACGCGCCTGTTGCTGGAAGAGAGCATCGCCGATGAATTCTTAGCCCTGTTaaaa > 5:224229/1‑148 (MQ=255) tCGTTTTCGCTGACTGCCCGGATTTGCAACAGGCGGCAAGCGCCACCGCAGCAGGCATTTTCTACAACCAGGGACAGGTGTGCATCGCCGGAACGCGCCTGTTGCTGGAAGAGAGCATCGCCGATGAATTCTTAGCCCTGTTaaaa > 1:155896/1‑146 (MQ=255) tCGTTTTCGCTGACTGCCCGGATTTGCAACAGGCGGCAAGCGCCACCGCAGCAGGCATTTTCTACAACCAGGGACAGGTGTGCATCGCCGGAACGCGCCTGTTGCTGGAAGAGAGCATCGCCGATGAATTCTTAGCCCTGTTaaaa < 2:155896/146‑1 (MQ=255) tttCGCTGACTGCCCGGATTTGCAACAGGCGGCAAGCGCCACCGCAGCAGGCATTTTCTACAACCAGGGACAGGTGTGCATCGCCGGAACGCGCCTGTTGCTGGAAGAGAGCATCGCCGATGAATTCTTAGCCCTGTTAAAACAGCAgg > 7:162072/1‑149 (MQ=255) cGCTGACTGCCCGGATTTGCAACAGGCGGCAAGCGCCACCGCAGCAGGCATTTTCTACAACCAGGGACAGGTGTGCATCGCCGGAACGCGCCTGTTGCTGGAAGAGAGCATCGCCGATGAATTCTTAGCCCTGTTAAAACAGCAGgcg < 7:144769/148‑1 (MQ=255) gACTGCCCGGATTTGCAACAGGCGGCAAGCGCCACCGCAGCAGGCATTTTCTACAACCAGGGACAGGTGTGCATCGCCGGAACGCGCCTGTTGCTGGAAGAGAGCATCGCCGATGAATTCTTAGCCCTGTTaaaa < 1:179805/135‑1 (MQ=255) gACTGCCCGGATTTGCAACAGGCGGCAAGCGCCACCGCAGCAGGCATTTTCTACAACCAGGGACAGGTGTGCATCGCCGGAACGCGCCTGTTGCTGGAAGAGAGCATCGCCGATGAATTCTTAGCCCTGTTaaaa > 2:179805/1‑135 (MQ=255) cccGGATTTGCAACAGGCGGCAAGCGCCACCGCAGCAGGGATTTTCTACAACCAGGGACAGGTGTGCATCGCCGGAACGCGCCTGTTGCTGGAAGAGAGCATCGCCGTTGAATTCTTAGCCCTGTTAAAACAGCAGGCGCATAGCTGGc > 4:207130/1‑149 (MQ=255) cccGGATTTGCAACAGGCGGCAAGCGCCACCGCAGCAGGCATTTTCTACAACCAGGGACAGGTGTGCATCGCCGGAACGCGCCTGTTGCTGGAAGAGAGCATCGCCGATGAATTCTTAGCCCTGTTAAAACAGCAGGCGCAAAACTgg < 8:6933/148‑1 (MQ=255) cccGGATTTGCAACAGGCGGCAAGCGCCACCGCAGCAGGCATTTTCTACAACCAGGGACAGGTGTGCATCGCCGGAACGCGCCTGTTGCTGGAAGAGAGCATCGCCGATGAATTCTTAGCCCTGTTAAAACAGCAGGCGCAAAACTGGc > 4:152015/1‑149 (MQ=255) ccGGATTTGCAACAGGCGGCAAGCGCCACCGCAGCAGGCATTTTCTACAACCAGGGACAGGTGTGCATCGCCGGAACGCGCCTGTTGCTGGAAGAGAGCATCGCCGATGAATTCTTAGCCCTGTTAAAACAGCAGGCGCAAAACTGGCa < 3:70034/149‑1 (MQ=255) gCAACAGGCGGCAAGCGCCACCGCAGCAGGCATTTTCTACAACCAGGGACAGGTGTGCACCGCCGGAACGCGCCTGTTGCTGGAAGAGAGCATCGCCGATGAATTCTTAGCCCTGTTAAAACAGCAGGCGCAAAACTGGCAGCCGGGc < 7:170429/148‑1 (MQ=255) aaCAGGCGGCAAGCGCCACCGCAGCAGGCATTTTCTACAACCAGGGACAGGTGTGCATCGCCGGAACGCGCCTGTTGCTGGAAGAGAGCATCGCCGATGAATTCTTAGCCCTGTTAAAACAGCAGGCGCAAAACTGGCAGCCGGGCCAt > 5:89862/1‑149 (MQ=255) ggcggcAAGCGCCACCGCAGCAGGCATTTTCTACAACCAGGGACAGGTGTGCATCGCCGGAACGCGCCTGTTGCTGGAAGAGAGCATCGCCGATGAATTCTTAGCCCTGTTAAAACAGCAGGCGCAAAACTGGCAGCCGGGCCATCCAc < 2:81073/149‑1 (MQ=255) cAAGCGCCACCGCAGCAGGCATTTTCTACAACCAGGGACAGGTGTGCATCGCCGGAACGCGCCTGTTGCTGGAAGAGAGCATCGCCGATGAATTCTTAGCCCTGTTAAAACAGCAGGCGCAAAACTGGCAGCCGGGCCATCCACTTGAt > 8:115376/1‑149 (MQ=255) aGCGCCACCGCAGCAGGCATTTTCTACAACCAGGGACAGGTGTGCATCGCCGGAACGCGCCTGTTGCTGGAAGAGAGCATCGCCGATGAATTCTTAGCCCTGTTAAAACAGCAGGCGCAAAACTGGCAGCCGGGCCATCCACTTGATcc < 1:138622/149‑1 (MQ=255) cagcagGCATTTTCTACAACCAGGGACAGGTGTGCATCGCCGGAACGCGCCTGTTGCTGGAAGAGAGCATCGCCGATGAATTCTTAGCCCTGTTAAAACAGCAGGCGCAAAACTGGCAGCCGGGCCATCCACTTGATCCCGCAaccac > 1:92713/1‑148 (MQ=255) cagcagGCATTTGCTACAACCAGGGACAGGTGTGCATCGCCGGAACGCGCCTGTTGCTGGAAGAGAGCATCGCCGATGAATTCTTAGCCCTGTTAAAACAGCAGGCGCAAAACTGGCAGCCGGGCCATCCACTTGATCCCGCAaccacc < 5:117977/149‑1 (MQ=255) agcagGCATTTTCTACAACCAGGGACAGGTGTGCATCGCCGGAACGCGCCTGTTTCTGGAAGAGAGCATCGCCGATGAATTCTTAGCCCTGTTAAAACAGCAGGCGCAAAACTGGCAGCCGGGCCATCCACTTGATCCCGCAAccacca < 5:108190/149‑1 (MQ=255) gCATTTTCTACAACCAGGGACAGGTGTGCATCGCCGGAACGCGCCTGTTGCTGGAAGAGAGCATCGCCGATGAATTCTTAGCCCTGTTAAAACAGCAGGCGCAAAACTGGCAGCCGGGCCATCCACTTGATCCCGCAACCACCATGGGc < 8:162072/149‑1 (MQ=255) aTTTTCTACAACCAGGGACAGGTGTGCATCGCCGGAACGCGCCTGTTGCTGGAAGAGAGCATCGCCGATGAATTCTTAGCCCTGTTAAAACAGCAGGCGCAAAACTGGCATCCGGGCCATCCACTTGATCCCGCAACCACCATGGGCAc < 5:124450/149‑1 (MQ=255) ttCTACAACCAGGGACAGGTGTGCATCGCCGGAACGCGCCTGTTGCTGGAAGAGAGCATCGCCGATGAATTCTTAGCCCTGTTAAAACAGCAGGCGCAAAACTGGCAGCCGGGCCATCCACTTGATCCCGCAACCACCATGGGCACCt < 4:85489/148‑1 (MQ=255) cTACAACCAGGGACAGGTGTGCATCGCCGGAACGCGCCTGTTGCTGGAAGAGAGCATCGCCGATGAATTCTTAGCCCTGTTAAAACAGCTGGCGCAAAACTGGCAGCCGGGCCATCCACTTGATCCCGCAACCACCATGGTCACCTTa < 4:68069/148‑1 (MQ=255) aCCAGGGACAGGTGTGCATCGCCGGAACGCGCCTGTTGCTGGAAGAGAGCATCGCCGATGAATTCTTAGCCCCGTTAAAACAGCAGGCGCAAAACTGGCAGCCGGGCCATCCACTTGATCCCGCAACCACCATGGGCACCTTAATCGAc > 7:88446/1‑149 (MQ=255) ccAGGGACAGGTGTGCATCGCCGGAACGCGCCTGTTGCTGGAAGAGAGCATCGCCGATGAATTCTTAGCCCTGTTAAAACAGCAGGCGCAAAACTGGCAGCCgg < 4:43085/104‑1 (MQ=255) ccAGGGACAGGTGTGCATCGCCGGAACGCGCCTGTTGCTGGAAGAGAGCATCGCCGATGAATTCTTAGCCCTGTTAAAACAGCAGGCGCAAAACTGGCAGCCGGGCCATCCACTTGATCCCGCAACCACCATGGGCACCTTAATCGACt > 1:228667/1‑149 (MQ=255) ccAGGGACAGGTGTGCATCGCCGGAACGCGCCTGTTGCTGGAAGAGAGCATCGCCGATGAAATCTTAGCCCTGTTAAAACAGCAGGCGCAAAACTGGCAGCCgg > 3:43085/1‑104 (MQ=255) aGGGACAGGTGTGCATCGCCGGAACGCGCCTGTTGCTGGAAGAGAGCATCGCCGATGAATTCTTAGCCCTGTTAAAACAGCAGGCGCAAAACTGGCAGCCGGGCCATCCACTTGATCCCGCAACCACCATGGGCACCTTAATCGACTgc < 8:77322/149‑1 (MQ=255) gtgtGCATCGCCGGAACGCGCCTGTTGCTGGAAGAGAGCATCGCCGATGAATTCTTAGCCCTGTTAAAACAGCAGGCGCAAAACTGGCAGCCGGGCCATCCACTTGATCCCGCAACCACCATGGGCACCTTAATCGACTGCGCCCACGc > 8:243610/1‑149 (MQ=255) tCGCCGGAACGCGCCTGTTGCTGGAAGAGAGCATCGCCGATGAATTCTTAGCCCCGTTAAAACAGCAGGCGCAAAACTGGCAGCCGGGCCATCCACTTGATCCCGCAACCACCATGGGCACCTTAATCGACTgcgc < 4:145066/136‑1 (MQ=255) tCGCCGGAACGCGCCTGTTGCTGGAAGAGAGCATCGCCGATGAATTCTTAGCCCCGTTAAAACAGCAGGCGCAAAACTGGCAGCCGGGCCATCCACTTGATCCCGCAACCACCATGGGCACCTTAATCGACTgcgc > 3:145066/1‑136 (MQ=255) gCCGGAACGCGCCTGTTGCTGGAAGAGAGCATCGCCGATGAATTCTTAGCCCTGTTAAAACAGCAGGCGCAAAACTGGCAGCCGGGCCATCCACTTGATCCCGCAACCACCATGGGCACCTTAATCGACTGCGCCCACGCCGACTCGGt < 2:92713/149‑1 (MQ=255) ggAACGCGCCTGTTGCTGGAAGAGAGCATCGCCGATGAATTCTTAGCCCTGTTAAAACAGCAGGCGCAAAACTGGCAGCCGGGCCATCCACTTGATCCCGCAACCACCATGGGCACCTTAATCGACTGCGCCCACGCCGACTCGGTCCa > 4:24330/1‑149 (MQ=255) tGTTGCTGGAAGAGAGCATCGCCGATGAATTCTTAGCCCTGTTAAAACCGCAGGCGCAAAACTGGCAGCCGGGCCATCCACTTGATCCCACAACCCCCATGGGCACCTTAATCGACTGCGCCCACGCCGCCTCGGTCCAGAGCTTTAtt > 6:2825/1‑149 (MQ=255) gagCATCGCCGATGAATTCTTAGCCCCGTTAAAACAGCAGGCGCAAAACTGGCAGCCGGGCCATCCACTTGATCCCGCAACCACCATGGGCACCTTAATCGACTGCGCCCACGCCGACTCGGTCCATAGCTTTATTCGGGAAGGCGaaa < 8:88446/149‑1 (MQ=255) aTCGCCGATGAATTCTTAGCCCTGTTAAAACAGCAGGCGCAAAACTGGCAGCCGGGCCATCCACTTGATCCCGCAACCACCATGGGCACCTTAATCGACTGCGCCCACGCCGACTCGGTCCATAGCTTTATTCGGGAAGGCGAAAGCa > 1:128669/1‑148 (MQ=255) cGCCGATGAATTATTAGCCCTGTTAAAACAGCAGGCGCAAAACTGTCAGCCGGGCCATCCACTTGATCCCGCAACCACCATGGGCACCTTAATCGACTGCGCCCACGCCGACTCGGTCCATAGCTTTATTCGGGAAGGCGAAAGCAAAg > 8:204540/1‑149 (MQ=255) ccGATGAATTCTTAGCCCTGTTAAAACAGCAGGCGCAAAACTGGCAGCCGGGCCATCCACTTGCTCCCGCAACCACCATGGGCACCTTAATCGACTGCGCCCCAGCCGACTCGGTCCATAGCTTTATTCGGGAAGGCGAAAGCAAAggg > 2:197741/1‑149 (MQ=255) ccGATGAATTCTTAGCCCTGTTAAAACAGCAGGCGCAAAACTGGCAGCCGGGCCATCCACTTGATCCCGCAACCACCATGGGCACCTTAATCGACTGCGCCCACGCCGACTCGGTCCATAGCTTTATTCGGGAAGGCGAAAGCAAAggg > 4:74421/1‑149 (MQ=255) ttCTTAGCCCTGTTAAAACAGCAGGCGCAAAACTGGCAGCCGGGCCATCCACTTGATCCCGCAACCACCATGGGCACCTTAATCGACTGCGCCCACGCCGACTCGGTCCATAGCTTTATTCGGGAAGGCGAAAGCAAAGGGCAACtgtt < 6:224229/149‑1 (MQ=255) cTTAGCCCTGTTAAAACAGCAGGCGCAAAACTGGCAGCCGGGCCATCCACTTGATCCCGCAACCACCATGGGCACCTTAATCGACTGCGCCCACGCCGACTCGGTCCATAGCTTTATTCGGGAAGGCGAAAGCAAAGGGCAACtgttgt > 1:123292/1‑149 (MQ=255) aGCCCTGTTAAAACAGCAGGCGCAAAACTGGCAGCCGGGCCATCCACTTGATCCCGCAACCACCATGGGCACCTTAATCGACTGCGCCCACGCCGACTCGGTCCATAGCTTTATTCGGGAAGGCGAAAGCAAAGGGCAACTgttgtt < 7:204540/147‑1 (MQ=255) ccTGTTAAAACAGCAGGCGCAAAACTGGCAGCCGGGCCATCCACTTGATCCCGCAACCACCATGGGCACCTTAATCGACTGCGCCCACGCCGACTCGGTCCATAGCTTTATTCGGGAAGGCGAAAGCAAAGGGCAACTGTTGTTGGATg < 8:4000/149‑1 (MQ=255) | CGCCAACATCGTTTTCGCTGACTGCCCGGATTTGCAACAGGCGGCAAGCGCCACCGCAGCAGGCATTTTCTACAACCAGGGACAGGTGTGCATCGCCGGAACGCGCCTGTTGCTGGAAGAGAGCATCGCCGATGAATTCTTAGCCCTGTTAAAACAGCAGGCGCAAAACTGGCAGCCGGGCCATCCACTTGATCCCGCAACCACCATGGGCACCTTAATCGACTGCGCCCACGCCGACTCGGTCCATAGCTTTATTCGGGAAGGCGAAAGCAAAGGGCAACTGTTGTTGGATG > NC_000913/1363558‑1363850 |
Alignment Legend |
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Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 14 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 36 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |