Predicted mutation
evidence seq id position mutation annotation gene description
RA AM260479 1,492,923 T→C L191L (TTG→CTG)  pdhB → dihydrolipoamide acetyltransferase (E2) component of pyruvate dehydrogenase complex

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*AM2604791,492,9230TC100.0% 41.3 / NA 12L191L (TTG→CTG) pdhBdihydrolipoamide acetyltransferase (E2) component of pyruvate dehydrogenase complex
Reads supporting (aligned to +/- strand):  ref base T (0/0);  new base C (7/5);  total (7/5)

AGGCCACCATGGACGTGCCGTCGCCGCAAGGCGGCGTGGTCAAGGAAGTCAAGGTCAAGGTCGGTGACAACGTCGCCGAAGGCACGTTGCTGCTGATCCTGGAAGGCGCCGCCGCATCAGCCGCCCCGGCAGCTGCCGCCGCGGCACCGGCTCCGGCTGCCAGCGCGCCCGCACCGGCACCGGCCCCCGCAGCCGCCGCCCCGGCACC  >  AM260479/1492837‑1493044
                                                                                      |                                                                                                                         
aGGCCACCATGGACGTGCCGTCGCCGCAAGGCGGCGTGGTCAAGGAAGTCAAGGTCAAGGTCGGTGACAACGTCGCCGAAGGCACGCTGCTGCTGATCCTGGAAGGCGCCGCCGcagcag                                                                                          >  1:681472/1‑120 (MQ=255)
aGGCCACCATGGACGTGCCGTCGCCGCAAGGCGGCGTGGTCAAGGAAGTCAAGGTCAAGGTCGGTGACAACGTCGCCGAAGGCACGCTGCTGCTGATCCTGGAAGGCGCCGCCGcagcag                                                                                          <  2:681472/120‑1 (MQ=255)
                    tCGCCGCAAGGCGGCGTGGTCAAGGAAGTCAAGGTCAAGGTCGGTGACAACGTCGCCGAAGGCACGCTGCTGCTGATCCTGGAAGGCGCCGCCGCAGCAGCCGCCCCGGCAGCTGCCGCCGCGGCAccggctcc                                                        >  1:1060734/1‑134 (MQ=255)
                    tCGCCGCAAGGCGGCGTGGTCAAGGAAGTCAAGGTCAAGGTCGGTGACAACGTCGCCGAAGGCACGCTGCTGCTGATCCTGGAAGGCGCCGCCGCAGCAGCCGCCCCGGCAGCTGCCGCCGCGGCAccggctcc                                                        >  2:558386/1‑134 (MQ=255)
                     cgccgcAAGGCGGCGTGGTCAAGGAAGTCAAGGTCAAGGTCGGTGACAACGTCGCCGAAGGCACGCTGCTGCTGATCCTGGAAGGCGCCGCCGCAGCAGCCGCCCCGGCAGCTGCCGCCGCGGCAccggctccg                                                       >  1:509084/1‑134 (MQ=255)
                     cgccgcAAGGCGGCGTGGTCAAGGAAGTCAAGGTCAAGGTCGGTGACAACGTCGCCGAAGGCACGCTGCTGCTGATCCTGGAAGGCGCCGCCGCAGCAGCCGCCCCGGCAGCTGCCGCCGCGGCAccggctccg                                                       >  2:126039/1‑134 (MQ=255)
                               cggcgTGGTCAAGGAAGTCAAGGTCAAGGTCGGTGACAACGTCGCCGAAGGCACGCTGCTGCTGATCCTGGAAGGCGCCGCCGCAGCAGCCGCCCCGGCAGCTGCCGCCGCGGCACCGGCTCCGGCTGCCAgcg                                             <  1:798923/134‑1 (MQ=255)
                                         aaGGAAGTCAAGGTCAAGGTCGGTGACAACGTCGCCGAAGGCACGCTGCTGCTGATCCTGGAAGGCGCCGCCGCAGCAGCCGCCCCGGCAGCTGCCGCCGCGGCACCGGCTCCGGCTGCCAGCGCGCCCgcacc                                   <  2:509084/134‑1 (MQ=255)
                                                  aaggtcaaggtcGGTGACAACGTCGCCGAAGGCACGCTGCTGCTGATCCTGGAAGGCGCCGCCGCAGCAGCCGCCCCGGCAGCTGCCGCCGCGGCa                                                                <  1:401394/96‑1 (MQ=255)
                                                  aaggtcaaggtcGGTGACAACGTCGCCGAAGGCACGCTGCTGCTGATCCTGGAAGGCGCCGCCGCAGCAGCCGCCCCGGCAGCTGCCGCCGCGGCa                                                                >  2:401394/1‑96 (MQ=255)
                                                    ggtcaaggtcGGTGACAACGTCGCCGAAGGCACGCTGCTGCTGATCCTGGAAGGCGCCGCCGCAGCAGCCGCCCCGGCAGCTGCCGCCGCGGCACCGGCTCCGGCTGCCAGCGCGCCCGCACCGGCACCGGccc                        <  2:1060734/134‑1 (MQ=255)
                                                                          gCCGAAGGCACGCTGCTGCTGATCCTGGAAGGCGCCGCCGCAGCAGCCGCCCCGGCAGCTGCCGCCGCGGCACCGGCTCCGGCTGCCAGCGCGCCCGCACCGGCACCGGCCCCCGCAGCCGCCGCCCCGGCAcc  >  2:599374/1‑134 (MQ=255)
                                                                                      |                                                                                                                         
AGGCCACCATGGACGTGCCGTCGCCGCAAGGCGGCGTGGTCAAGGAAGTCAAGGTCAAGGTCGGTGACAACGTCGCCGAAGGCACGTTGCTGCTGATCCTGGAAGGCGCCGCCGCATCAGCCGCCCCGGCAGCTGCCGCCGCGGCACCGGCTCCGGCTGCCAGCGCGCCCGCACCGGCACCGGCCCCCGCAGCCGCCGCCCCGGCACC  >  AM260479/1492837‑1493044

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 35 ≤ ATCG/ATCG < 39 ≤ ATCG/ATCG < 40 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap:     Deleted base: