Predicted mutation
evidence seq id position mutation annotation gene description
RA NC_000913_3_hsa_tpiA 2,679,525 G→T A1074D (GCT→GAT)  yphG ← DUF4380 domain‑containing TPR repeat protein

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_000913_3_hsa_tpiA2,679,5250GT100.0% 118.7 / NA 36A1074D (GCT→GAT) yphGDUF4380 domain‑containing TPR repeat protein
Reads supporting (aligned to +/- strand):  ref base G (0/0);  new base T (19/17);  total (19/17)

TTTATTAACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAAGCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGACAACAAGTCAGGTT  >  NC_000913_3_hsa_tpiA/2679386‑2679669
                                                                                                                                           |                                                                                                                                                
tttATTAACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTaa                                                                                                                                         <  1:7591/149‑1 (MQ=255)
    ttaACAACGGCTTATTCTAATTTTTTTGTGATGAGCGTCAGCGCGTGCCGTTTAAATATGACAGTTAATTGGGTTTTGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCgt                                                                                                                                     <  2:777251/149‑2 (MQ=255)
     taACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGcc                                                                                                                                    <  1:282395/149‑1 (MQ=255)
       acaacGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGt                                                                                                                                  >  1:315938/1‑149 (MQ=255)
                 aTTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAgcg                                                                                                                        >  1:604413/1‑149 (MQ=255)
                     tAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCg                                                                                                                                   <  2:250872/134‑1 (MQ=255)
                     tAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCg                                                                                                                                   >  1:250872/1‑134 (MQ=255)
                      aaTTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAGTCCGGGTATTTCGCCGCCAATTCAGCGCGAGc                                                                                                                   >  1:192231/1‑149 (MQ=255)
                        ttattTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTAAAGTTAATAGGGTTTAGTGAACGCGATTAAAAATAAAAGGCATCACGCTGGTGAATAATGCCGATTTCGGCCGATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAg                                                                                                                 >  1:580236/1‑149 (MQ=255)
                                   tgaTCGGCATCGCGTGCCGCTCAAATATTACAGTTAATAGGTTTTAGTGAACGCGGTTAAAAATAAAATGCATCACTGTGTTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTgc                                                                                                      <  1:521897/149‑1 (MQ=255)
                                     aGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTgcgc                                                                                                    <  1:726924/149‑1 (MQ=255)
                                                gTGGCGATCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGa                                                                                         <  2:579338/149‑1 (MQ=255)
                                                    cGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTcc                                                                                     >  2:515018/1‑149 (MQ=255)
                                                     gCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAACGGAATCACGGAATTGAATAATGCCGCTTTCGGCCAATCCGCATTAATCGCCGTCAATTCATCGCGAGCAGACCACTATTGCGCAACCCACCCGAGTccc                                                                                    >  1:377605/1‑149 (MQ=255)
                                                       tCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGCGCGGACTCATATTGCGCAACCTCCCCGAGTCCcgc                                                                                  >  1:521704/1‑149 (MQ=255)
                                                          aaTATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGa                                                                               <  2:315938/149‑1 (MQ=255)
                                                                   gTTAATAGGGTGTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCAt                                                                      >  2:435019/1‑149 (MQ=255)
                                                                      aaTAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGc                                                                   >  2:310257/1‑149 (MQ=255)
                                                                       aTAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGCTTAATCGCCGTCAATTCAGCGCGAGCAGACTCGTATTGCGCAACCTCCCCGCGTCCCGCGGACGCCAGCACCGcc                                                                  >  1:198913/1‑149 (MQ=255)
                                                                        tAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGcca                                                                 >  1:434943/1‑149 (MQ=255)
                                                                            gTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCAt                                                             >  1:689129/1‑149 (MQ=255)
                                                                               tAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACCCCAGCCTCGCCACCCTCAg                                                          >  2:315486/1‑149 (MQ=255)
                                                                                         ggTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCt                                                <  1:310257/149‑1 (MQ=255)
                                                                                           ttAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCttt                                              <  1:282899/149‑1 (MQ=255)
                                                                                             aaaaaTAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCCGGCATTTTTCTTTAt                                            <  2:434943/149‑1 (MQ=255)
                                                                                              aaaaTAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCTATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTAtg                                           <  1:749453/149‑1 (MQ=255)
                                                                                               aaaTAAGAGGCATCACGGGGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCTAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTAtgc                                          <  2:429357/149‑1 (MQ=255)
                                                                                                   aaaaGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATgctgct                                      >  1:530881/1‑149 (MQ=255)
                                                                                                      aGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCtgtt                                   <  1:582331/149‑1 (MQ=255)
                                                                                                           tCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTaaa                              <  1:815643/149‑1 (MQ=255)
                                                                                                             aCGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATc                            >  1:264710/1‑149 (MQ=255)
                                                                                                                   gtgAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCCACGCGAGCAGACTCATATTGCGCAACCTACCCGAGTCCCGCGGACGTCATTATTTCCACCTCCGCGCATTTTTCTTTATCCTGGCGTTGTAAATCGCCATa                      >  1:193634/1‑149 (MQ=255)
                                                                                                                         aatGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCGCCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGa                >  1:549240/1‑149 (MQ=255)
                                                                                                                          atGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGac               <  1:515018/149‑1 (MQ=255)
                                                                                                                          atGCCGCTGTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGac               <  2:146549/149‑1 (MQ=255)
                                                                                                                                       ccAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGACAACAAGTCAGGtt  >  1:735761/1‑149 (MQ=255)
                                                                                                                                           |                                                                                                                                                
TTTATTAACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAAGCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGACAACAAGTCAGGTT  >  NC_000913_3_hsa_tpiA/2679386‑2679669

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: