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%	62.4 / NA	21	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 (12/9);  total (12/9)

CTCTCAGTGGGCTGCTTACCAGAACCCGGTAGTTGCGTTTGGCATTTACGGTTTCATCGAACGTTGCCTGGTACCGTTTGGTCTGCACCACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTCAGGTTTTCCACGGCGACATTCCGCGTTAT‑ATGGCGGGTGACCCGACTGCGGGTAAACTGTCTGGTGGCTTCCTGTTCAAAATGTACGGTCTGCCAGCTGCCGCAATTGCTATCTGGCACTCTGCTAAACCAGAA  >  NC_000913_3_hsa_tpiA/1158414‑1158693                                                                                                                                                  |                                                                                                                                        tgctcAGTGGGCTGCGTAGCAGGACCCGGTTGTTGCGTTTGGCATTTACGGTTTCATCGAACGTTGCCTGGTACCGTTTGGTCTGCACCACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGcaggttagg                                                                                                                                      <  1:152674/147‑1 (MQ=255) ctctgAGTGGGCTGCTTACCAGACCCCGGTAGTTGCGTTGGGCATTTACGGTTTCATCGAACGTTGCCTGGTACCGTTTGGTCTGCACCACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGcaggttagg                                                                                                                                      <  2:323068/149‑1 (MQ=255)                     aGAACCCGGTAGTTGCGTTTGGCATTTACGGTTTCATCGAACGTTGCCTGGTACCGTTTGGTCTGCACCACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCcg                                                                                                                  <  1:291175/149‑1 (MQ=255)                            ggTAGTTGCGTTTGGCATTCACGGTTTCATCGAACGTTGCCTGGTACCGTTTGGTCTGCACCACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTtat‑a                                                                                                          <  1:379138/149‑1 (MQ=255)                                                           gAACGTTGCCTGGTACCGTTTGGTCTTCACCACATCTGGAACGTACCTTTACAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTACACGGCGACATTCCGCGTTAT‑ATGGCGCGTGCCCCGAATGCGGGTaacccgcc                                                                           >  2:381078/1‑143 (MQ=255)                                                             aCGTTGCCTGGTACCGTTTGGTCTGCACCACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTAT‑ATGGCGGGTGACCCGACTGCGGGTAAACTGTCtg                                                                         >  1:409183/1‑149 (MQ=255)                                                               gTTGCCTGGTACCGTTTGGTCTGCACCACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACATCAACGCAGCAGGTTAGGTTATCCCCGGTGATATTCCGCGTTAT‑ATGGCGGGTGACCCGACTGCGGGTAAACTGTCtggt                                                                       <  2:385793/149‑1 (MQ=255)                                                                   ccTGGTACCGTTTGGTCTGCACCACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTAT‑ATGGCGGGTGACCCGACTGCGGGGAAACTGTCTGGTGGCt                                                                   >  1:158348/1‑149 (MQ=255)                                                                       gTACCGTTTGGTCTGCACCACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTAT‑ATGGCGGGTGACCCGACTGCGGGTAAACTGTCTGGTGGCTTCCt                                                               >  2:169392/1‑149 (MQ=255)                                                                       gTACCGTTTGGTCTGCACCACATCTGGAACGTACCTTTCCAGATGCAGAGTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTAT‑ATGGCAGGTGACCCGACTGCGGGTAAACTATATGGTGGCTTccg                                                               >  2:405517/1‑148 (MQ=255)                                                                            gTTTGGTCTGCACCACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTAT‑ATGGCGGGTGACCCGACTGCGGGTAAACTGTCTGGTGGCTTCCTGTTcc                                                          >  1:332547/1‑148 (MQ=255)                                                                                  tCTGCACCACATCTGGAACGTACCTTTCCAGATGCGGATGGGGGAATACACCAACGCAGCAGGGTAGGTGTTCCACGGCGGCATACCGCGTTGT‑ATGGCGGGTGACCCGACTGCGGGTAAACTGTCTGGTGGCCTCCTGTTGAACAttt                                                    >  2:195019/1‑147 (MQ=255)                                                                                    tGCACCAAATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTAT‑ATGGCGGGTGACCCGACTGCGGGTAAACTGTCTGGTGGCTTCCTGTTCAAAATGTAc                                                  <  1:27122/149‑1 (MQ=255)                                                                                      caccacATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCCGGTTAGGTTTTCCCCGGCGACATTCCGCTTTAT‑ATGGCGGGTGACCCGACTGTGGGTAAACTGTCGGTGGGCTTCCTGTTCAAAATGTACgg                                                >  1:65825/1‑149 (MQ=255)                                                                                         cacaTCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTAT‑ATGGCGGGTGACCCGACTGCGGGTAAACTGTCTGGTGGCTTCCTGTTCAAAATGTACGGTCt                                             >  2:389651/1‑149 (MQ=255)                                                                                             tCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTAT‑ATGGCGGGTGACCCGACTGCGGGTAAACTGTCTGGTGGCTTCCTGTTCAAAATGTACGGTCTGCCa                                         <  1:356548/149‑1 (MQ=255)                                                                                               tGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTAT‑ATGGCGGGTGACCCGACTGCGGGTAAACTGTCTGGTGGCTTCCTGTTCAAAATGTACGGTCTGCCAGc                                       >  2:499338/1‑149 (MQ=255)                                                                                                   aCGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTAT‑ATGGCGGGTGACCCGACTGCGGGTAAACTGTTTGGTGGCTTCCTGTTCAATATGTACGTTCTGCCAGCTGcc                                   <  2:46722/149‑1 (MQ=255)                                                                                                             ccAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGCTTGCCACGGCGACATTCCGCGTAATCTTGTTAGGTG‑CCCGCTAGTTCTTAGATCGGCTGGTGGCTTCCTGTTCAAAATGTACGGTCTGCCAGCTGCCGCAATTGCTa                         <  1:499338/149‑1 (MQ=255)                                                                                                                           gTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTAT‑ATGGCGGGTGACCCGACTGCGGGTAAACTGTCtg                                                                         >  2:177883/1‑87 (MQ=255)                                                                                                                           gTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTAT‑ATGGCGGGTGACCCGACTGCGGGTAAACTGTCtg                                                                         <  1:177883/87‑1 (MQ=255)                                                                                                                                   acCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTAT‑ATGGCGGGTGACCCGACTGCGGGTAAACTGTCTGGTGGCTTCCTGTTCAAAATGTACGGTCTGCCAGCTGCCGCAATTGCTATCTGGCACTCTGCTAAACCAGa   >  1:239156/1‑149 (MQ=255)                                                                                                                                    ccAACCCAGCAGGGTAGGTTTTCCACGGCGACATTCCGGCTTAT‑TTGGCGGGTGACCCGACTGCGGGTAAACTGTCTGGTGGCCTCCTGTTCAAAATGTACGGTCTGCCAGCTGCCGCAATTGCTATCTGGCACTCTGCTAAACCAGaa  <  2:65825/149‑1 (MQ=255)                                                                                                                                                  |                                                                                                                                        CTCTCAGTGGGCTGCTTACCAGAACCCGGTAGTTGCGTTTGGCATTTACGGTTTCATCGAACGTTGCCTGGTACCGTTTGGTCTGCACCACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTCAGGTTTTCCACGGCGACATTCCGCGTTAT‑ATGGCGGGTGACCCGACTGCGGGTAAACTGTCTGGTGGCTTCCTGTTCAAAATGTACGGTCTGCCAGCTGCCGCAATTGCTATCTGGCACTCTGCTAAACCAGAA  >  NC_000913_3_hsa_tpiA/1158414‑1158693

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 8 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap: ‑    Deleted base: ‑