Predicted mutation
evidence	seq id	position	mutation	annotation	gene	description
RA	NC_000913_3_hsa_tpiA	1,158,559	C→T	Q231* (CAG→TAG)	ptsG →	fused glucose‑specific PTS enzymes: IIB component/IIC component

Read alignment evidence...
	seq id	position		ref	new	freq	score (cons/poly)	reads	annotation	genes	product
*	NC_000913_3_hsa_tpiA	1,158,559	0	C	T	100.0%	108.8 / NA	35	Q231* (CAG→TAG)	ptsG	fused glucose‑specific PTS enzymes: IIB component/IIC component
Reads supporting (aligned to +/- strand):  ref base C (0/0);  new base T (15/20);  total (15/20)

TGGGCTGCTTACCAGAACCCGGTAGTTGCGTTTGGCATTTACGGTTTCATCGAACGTTGCCTGGTACCGTTTGGTCTGCACCACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTCAGGTTTTCCACGGCGACATTCCGCGTTATATGGCGGGTGACCCGACTGCGGGTAAACTGTCTGGTGGCTTCCTGTTCAAAATGTACGGTCTGCCAGCTGCCGCAATTGCTATCTGGCACTCTGCTAAACCA  >  NC_000913_3_hsa_tpiA/1158421‑1158690                                                                                                                                           |                                                                                                                                    tGGGCTGCTTACCAGAACCCGGTAGTTGCGTTTGGCATTTACGGTTTCATCGAACGTTGCCTGGTACCGTTTGGTCTGCACCACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCa                                                                                                                           <  2:401598/149‑1 (MQ=255)  gggCTGCTTTCCAGAACCCGGTAGTTGCGTTTGGCATTTACGGTTTCATCGAACGTTGCCTGGTACCGTTTGGTCTGCACCACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCAc                                                                                                                          <  1:459361/149‑1 (MQ=255)    gctgctTACCAGAACCCGGTAGTTGCGTTTGGCATTTACGGTTTCATCGAACGTTGCCTGGTACCGTTTGGTCTGCACCACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACgg                                                                                                                        <  1:335317/149‑1 (MQ=255)     cttctTACCAGAACCCGGTAGTTGCGTTTGGCATTTACGGTTTCATCGAACGTTGCCTGGTACCGTTTGGTCTGCACCACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGc                                                                                                                       >  1:573196/4‑149 (MQ=255)     ctgctTACCAGAACCCGGTAGTTGCGTTTGGCATTTACGGTTTCATCGAACGTTGCCTGGTACCGTTTGGTCTGCACCACATCTGCAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGc                                                                                                                       >  1:598521/1‑149 (MQ=255)        ctTACCAGAACCGGGTAGGTGCGTTTGGCATTTACGGTTTCATCGAACGTTGCCTGGTACCGTTTGGTCTGCACCACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGAc                                                                                                                    <  2:375332/149‑1 (MQ=255)             cAGAACCCGGTAGTTGCGTTTGGCATTTACGGTTTCATCGAACGTTGCCTGGTACCGTTTGGTCTGCACCACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTcc                                                                                                               >  2:641735/1‑149 (MQ=255)                aaCCCGGTAGTTGCGTTTGGCATTTACGGTTTCATCGAACGTTGCCTGGTACCGTTTGGTCTGCACCACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCcgcg                                                                                                            >  1:277640/1‑149 (MQ=255)                   ccGGTAGTTGCGTTTGGCATTTACGGTTTCATCGAACGTTGCCTGGTACCGTTTGGTCTGCACCACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGGCATTCCGCGTta                                                                                                         >  1:179360/1‑149 (MQ=255)                     ggTAGTTGCGTGTGGCATTTCCGGTTTCATCGAACGCTGCCTGGTACCGTTTCGTCTGCACCACATCTGGAACGTACCTTTCCTGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTtata                                                                                                       <  2:442966/149‑1 (MQ=255)                           tgggtgtGGCATGTACGGTGTCAACGAAGTTTGCCTGGTACCGTTTGGTCTGGCCCACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATCCCGCGTTATATGGCgg                                                                                                 <  2:251484/143‑1 (MQ=255)                               tttGGCATTTACGGTTTCATCGAACGTTGCCTGGTACCGTTTGGTCTGCACCACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTATATGGCGGGTGa                                                                                             >  1:435000/1‑149 (MQ=255)                                        tACGGTTTCATCGAACGTGGCCTGGTACCGTTTGGTCTGCACCACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTATATGGCGGGTGACCCGACTGc                                                                                    <  1:14884/149‑1 (MQ=255)                                          cGGTTTGCTCGAACGTTGCCTGGTACCGTTTGGTCTGCACCACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTATATGGCGGGTGACCCGACTGCgg                                                                                  <  1:412136/149‑1 (MQ=255)                                             tttCATCGAACGTTGCCTGGTACCGTTTGGTCTGCACCACATCTGGAACGTACCTTTCCAGATGCAAATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTATATGGCGGGTGACCGGACTGCGGGTa                                                                               >  1:267968/1‑149 (MQ=255)                                               gcATCGCACGTTGCCGGGCACCGTTTGGTCTTGACCACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTATATGGCGGGTGACCCGACTGCGGGTaaa                                                                             <  1:309841/148‑1 (MQ=255)                                                catgcaaCGTTGTCTGGTCCCGTTTCGTCTGGACCGCATCTGGAACGTACCTTTCCGGATGCAGATTGGTGAATACACCATCGCGGCAGGTTGGGTTTTCCACGGCGGCATTCCGCGTTATATGGCGGGTGACCCGACTGCGGGTAAAc                                                                            <  2:528509/144‑1 (MQ=255)                                                    gAACGTTGCCTGGTACCGTTTGGTCTGCACCACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTATATGGCGGGTGACCCGACTGCGGGTAAACTGTc                                                                        >  1:366071/1‑149 (MQ=255)                                                      aCGTTGCCTGGTACCGTTTGGTCTGCACCACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTATATGGCGGGTGACCCGACTGCGGGTAAACTGTCtg                                                                      <  1:540504/149‑1 (MQ=255)                                                          tGCCGGGTACCGTTTGGTCTGCACCACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTATATGGCGGGTGACCCGACTGCGGGTAAACTGTCtggtgg                                                                  <  1:473667/149‑1 (MQ=255)                                                                gTACCGTTTGGTCTGCACCACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTATATGGCGGGTGACCCGACTGCGGGTAAACTGTCTGGTGGCTTCCt                                                            <  1:641735/149‑1 (MQ=255)                                                                           tCTGCACCACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTACATGGCGGGTGACCCGACTGCGGGTAAACGGTCTGGTGGCTTCCTGTTCAGAATGt                                                 >  1:19335/1‑149 (MQ=255)                                                                           tCTGCACCACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGCTCAAACGCGGCGGACCCGACTGCGGGTAAACTGTCTGGTGGCTTCCTGTTCAAAATGt                                                 >  1:19662/1‑149 (MQ=255)                                                                              tcaccacTGCTGTAACCGACCTTTGCACATCTTGATTGGTCAATACACCAACGCAGTAGGTTAGGTTTTCCACGCCGACATTCCGCGTTATATGGCGTGTGACCCGACTGCGTGTAAACTGTCTGGTGGCTTCCTGTTCAAAATGTACg                                              <  2:221867/148‑1 (MQ=255)                                                                              gCACCACTTCGGGAACGTACCTTTCCAGATGCAGAGTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTATATGGCGGGTGACCCGACTGCGGGTAAACTGTCTGGTGGCTTCCTGTTCAAAATGTACg                                              <  2:430723/149‑1 (MQ=255)                                                                                              gTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACGTTCCGCGTTGTATGCCGGGTGACCCGACTGCGGGGAAACGGTCGGGTGGCGTCCTGTTGAAAATGTACGGTCGGCCAGCTGCCGc                              >  1:394925/1‑149 (MQ=255)                                                                                                aCCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTATATGGCGGGTGACCCGACTGCGGGTAAACTGTCTGGTGGCTTCCGGTTCAAAATGTACGGTCTGCCAGCTGCCGccc                            >  2:319212/1‑147 (MQ=255)                                                                                                  cTTTACCGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTATATGGCGGGTGACCCGACTACGGGTAAACTGTCTGGTGGCTTCCTGTTCAAAATGTACGGTCTGCCAGCTGCCGCAAtt                          >  2:618499/1‑149 (MQ=255)                                                                                                   tttCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTATATGGCGGGTGACCCGACTGCGGGTAAACTGTCTGGTGGCTTCCTGTTCAAAATGTACGGTCTGCCAGCTGCCGCAATTg                         >  1:275998/1‑149 (MQ=255)                                                                                                          aTGCAGATTGGTGAATACACCAACGCAGCATGTTAGGTTTTCCACAGTTGAGTTGCGGGGTATATGGCGGGTGACCCGACTGCGGGTAAACTGTCTGGTGGCTTCCTGTTCAAAATGTACGGTCTGCCAGCTGCCGCAATTGCTATCTg                  <  2:478414/149‑1 (MQ=255)                                                                                                              aGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTATATGGCGGGTGACCCGACTGCGGGTAAACTGTCTGGTGGCTTCCTGTTCAAAATGTACGGTCTGCCAGCTGCCGCAATTGCTATCTGGCAc              <  1:501188/149‑1 (MQ=255)                                                                                                                 ttGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTATATGGCGGGTGACCCGACTGCGGGTAAACTGTCTGGTGGCTTCCTGTTCAAAATGTACGGTCTGCCAGCTGCCGCAATTGCTATCTGGCActct           <  1:433876/149‑1 (MQ=255)                                                                                                                  tGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTATATGGCGGGTGACCCGACTGCGGGTAAACTGTCTGGTGGCTTCCTGTTCAAAATGTACGGTCTGCCAGCTGCCGCAATTGCTATCTGGCACTCTg          >  1:367455/1‑149 (MQ=255)                                                                                                                          acacCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTATATGGCGGGTGACCCGACTGCGGGTAAACTGTCTGGTGGCTTCCTGTTCAAAATGTACGGTCTGCCAGCTGCCGCAATTGCTATCTGGCACTCTGCTAAACCa  <  1:280752/149‑1 (MQ=255)                                                                                                                          acacCAACGCAGCAGGGTAGGTTTTCCACGGCGACATTCCGCGTTATATGGCGGGTGACCCGACTGCGGGTAAACTGTCTGGTGGCTTCCTGTTCAAAATGTACGGTCTGCCAGCTGCCGCAATTGCTATCTGGCACTCTGCTAAACCa  <  2:85652/149‑1 (MQ=255)                                                                                                                                           |                                                                                                                                    TGGGCTGCTTACCAGAACCCGGTAGTTGCGTTTGGCATTTACGGTTTCATCGAACGTTGCCTGGTACCGTTTGGTCTGCACCACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTCAGGTTTTCCACGGCGACATTCCGCGTTATATGGCGGGTGACCCGACTGCGGGTAAACTGTCTGGTGGCTTCCTGTTCAAAATGTACGGTCTGCCAGCTGCCGCAATTGCTATCTGGCACTCTGCTAAACCA  >  NC_000913_3_hsa_tpiA/1158421‑1158690

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 8 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap: ‑    Deleted base: ‑