Predicted mutation | ||||||
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evidence | seq id | position | mutation | annotation | gene | description |
RA | NC_000913_3_hsa_tpiA | 1,544,022 | 1 bp→AA | coding (39/1389 nt) | narU ← | nitrate/nitrite transporter |
Read alignment evidence... | |||||||||||
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seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | NC_000913_3_hsa_tpiA | 1,544,021 | 1 | . | A | 81.8% | 79.9 / 15.9 | 33 | coding (40/1389 nt) | narU | nitrate/nitrite transporter |
Reads supporting (aligned to +/- strand): ref base . (2/4); new base A (12/15); total (14/19) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.19e-01 | |||||||||||
* | NC_000913_3_hsa_tpiA | 1,544,022 | 0 | C | A | 100.0% | 95.1 / NA | 33 | L13F (TTG→TTT) | narU | nitrate/nitrite transporter |
Reads supporting (aligned to +/- strand): ref base C (0/0); new base A (14/19); total (14/19) |
AGATTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑G‑C‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGT‑TATTAGAATTAAGGATGAATTGGGTGAAGTGCTGATTGAAA > NC_000913_3_hsa_tpiA/1543882‑1544170 ||| agaTTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑G‑A‑aaaaagat > 2:431063/1‑145 (MQ=255) gcgcTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGTTTTCCAGTCGC‑GAA‑AAAAGATAACGACTATTTTtct < 2:676203/149‑1 (MQ=255) gcgcTAAATAGCATCCAGAAACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAAAGATAACGACTATTTTtct < 2:625707/149‑1 (MQ=255) gatAAATACGATCCATACACGGAAGGAAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATTCTGTCCTTTATTTCCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑C‑AAAAAAGATAACGACTATTTTTCTCa < 1:115865/147‑1 (MQ=255) tAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAAAGATAACGACTATTTTTCTCAtt > 2:687279/1‑149 (MQ=255) tAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGCAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGc > 1:156924/1‑149 (MQ=255) cATCCAGACACAGAAGGCAAGAAGTAGACAACTGAGTGAGATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTCCAGt > 2:318861/1‑149 (MQ=255) tCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAAATATAACGACTATTTTTCTCATTTTTCAGTGc > 2:417528/1‑149 (MQ=255) tCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTACCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCAA‑A‑AAAAGATAACGACTATTTTTCTAATTTTGCAGTGc > 2:211604/1‑149 (MQ=255) ccAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCATCGAGCAAGTTGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAAAGCTAACGACTATTTTTCTCCTTTTGCAGTGcc > 2:124366/1‑149 (MQ=255) aaaaGAAAGCAGGAAGTAGACAAATGAGTGGTATGCAGGTATTTCTTCGAGCAATATGTTTTCTTTTATTTTCCCAGAAGGCCGGATTTTCTGTTTTCCAGTCGC‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATAtt < 2:742123/146‑1 (MQ=255) aaGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCCTCTTGTccc > 1:325969/1‑149 (MQ=255) aaGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTcc < 2:188095/149‑1 (MQ=255) aggaGACAACGGACTGATAGCCAGAGGTGTCTTCGAGCAATTTGTTTTCCTTTGTTTTCCCAGAAGGCCGGATTTTCTGGTTGCGAGTCGC‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCGATATTGTTCCTCACATGca < 2:68183/146‑1 (MQ=255) agTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGca < 1:546260/149‑1 (MQ=255) aaCTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTg > 2:387384/1‑149 (MQ=255) gaTATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGaa < 1:302560/149‑1 (MQ=255) gaTTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACaa < 1:232951/149‑1 (MQ=255) cttcGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATCTTCTTCACCACATGCACACATTGGTAATGAAAAAAAGACAAAaccc > 1:208608/1‑147 (MQ=255) gAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACCAAACACGAgg > 2:277894/1‑149 (MQ=255) tatGTTTGTCTTTAGTTTCCCAGGAGGCCGGATTTTCTGGTTACCAGTCGC‑GAA‑AAAAGATAACGACTATTTTTTTCATTTTGAAGTGCCATCTTGTTCCTCCCATTAACACATTGGTAATGAAAAAAAGCCAAAACACGAGGTAAGgc < 2:751079/149‑1 (MQ=255) cTTTATTTTCCCAGAAAGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGcc < 2:323214/149‑1 (MQ=255) tttATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAaca > 2:358368/1‑128 (MQ=255) tttATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑G‑AAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAaca < 1:358368/128‑1 (MQ=255) aTTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAg > 1:489578/1‑129 (MQ=255) aTTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAg < 2:489578/129‑1 (MQ=255) ggCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGT‑TATTAGAATTAAg < 1:41908/149‑1 (MQ=255) gCCTGATTGTGTGTTTTTCAGTCGC‑GAA‑AAAAGATAACGACTACTTTTCTCATTGTGCAGTGCCATATTGTGTCTCACACGCAAACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGT‑TATTAGAATTAAgg < 2:114538/149‑1 (MQ=255) ccGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGT‑TATTAGAATTAAGGa < 1:70171/149‑1 (MQ=255) tttCTGGTTTCCAGTCGC‑G‑AAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGT‑TATTAGAATTAAGGATGAAtt < 2:300622/149‑1 (MQ=255) gTTTCCAGTCGC‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTTCTCACATACACAGAATCGTACTGCAAAGAAGACAACACACGAGGTAAGGAGCAATAG‑CAGTGTATTGGAATTCAGGCTGAATTggagga > 2:3153/1‑145 (MQ=255) gttCCATTCGC‑GAA‑AAAAGAAAACGACTATTTTACTCATGTTGCAGTGCCATATTGTCCCTCACATGCACACATTGGTAATGAAAAAAATACAAAACACGAGGTAAGGCGCAATAGTCAGT‑TATTAGAATTAAGGATGAATTGGGTGaa < 1:350047/148‑1 (MQ=255) aGTCGC‑G‑AAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGT‑TATTAGAATTAAGGATGAATTGGGTGAAGTGCt < 1:513295/149‑1 (MQ=255) cgcgaaaaaaGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGT‑TATTAGAATTAAGGATGAATTGGGTGAAGTGCTGAt < 2:485374/143‑1 (MQ=255) cgcgaaaaaaGATAACAACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGT‑TATTAGAATTAAGGATGAATTGGGTGAAGTGCTGAt < 1:409456/143‑1 (MQ=255) gcgaaaaaaGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGT‑TATTAGAATTAAGGATGAATTGGGTGAAGTGCTGAtt < 1:602890/144‑1 (MQ=255) cgaaaaaaGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTCAGGCGCAATAGCCAGA‑TATTAGAATTAAGGATGAATTGGGGGAAGAGCTGATTg > 2:48608/5‑149 (MQ=255) cgaaaaaaGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCACACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGT‑TATTAGAATTAAGGATGAATTGGGTGAAGTGCTGATTg > 2:382040/5‑149 (MQ=255) aaaaaGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGT‑TATTAGAATTAAGGATGAATTGGGTGAAGTGCTGATTGaaa < 1:488140/148‑1 (MQ=255) ||| AGATTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑G‑C‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGT‑TATTAGAATTAAGGATGAATTGGGTGAAGTGCTGATTGAAA > NC_000913_3_hsa_tpiA/1543882‑1544170 |
Alignment Legend |
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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: ‑ |