Predicted mutation
evidence	seq id	position	mutation	annotation	gene	description
RA	NC_000913_3_hsa_tpiA	2,817,170	C→A	E112* (GAA→TAA)	yqaB ←	fructose‑1‑P and 6‑phosphogluconate phosphatase

Read alignment evidence...
	seq id	position		ref	new	freq	score (cons/poly)	reads	annotation	genes	product
*	NC_000913_3_hsa_tpiA	2,817,170	0	C	A	100.0%	121.7 / NA	39	E112* (GAA→TAA)	yqaB	fructose‑1‑P and 6‑phosphogluconate phosphatase
Reads supporting (aligned to +/- strand):  ref base C (0/0);  new base A (16/23);  total (16/23)

TCGGTTGCACGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTCACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGGGTCGA  >  NC_000913_3_hsa_tpiA/2817026‑2817307                                                                                                                                                 |                                                                                                                                          tCGGTTGCACGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTc                                                                                                                                       >  2:86995/1‑149 (MQ=255) tCGGTTGCACGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTc                                                                                                                                       <  1:64547/149‑1 (MQ=255)  cGGTTGCACGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTcc                                                                                                                                      <  1:370550/149‑1 (MQ=255)           gCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCGCAGGTGCGCCAGCAAGGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTa                                                                                                                             >  2:470361/1‑149 (MQ=255)             ccATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTcc                                                                                                                               >  2:592128/1‑145 (MQ=255)             ccATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTcc                                                                                                                               <  1:592128/145‑1 (MQ=255)              cATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAg                                                                                                                          <  2:559476/149‑1 (MQ=255)               aTACGCTGCGCGCACAAAAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGc                                                                                                                         <  1:370101/149‑1 (MQ=255)                     tGCGCGCACAACAAAAATGTCTCTGGCGCGGGTTTATGGTGTTTGCCGTGATCGGAAGCGACGACGGCGTCAAAATAATGGCGCAATCCCAGGAGCGCCAGCAATGCCTCAGCGATGCCGCTTTAACTCCCCGTTCCTACAGCCATTgg                                                                                                                   <  1:580367/149‑1 (MQ=255)                     ggcgcgcACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTgg                                                                                                                   <  2:383328/148‑1 (MQ=255)                       ctgtaacaacaAAAATGTGTTTGGCGCTGGGTTATGGTTTTTGACGTAATCGGCAGCGACGACGGCGTTAAAATAATGGCGTAATCATAGGTACGTCAGCACTGCCTCCGGGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGc                                                                                                                 <  2:462307/144‑1 (MQ=255)                            acaacaAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGcgacga                                                                                                            <  1:545306/149‑1 (MQ=255)                            acaacaAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGcgacga                                                                                                            >  2:20919/1‑149 (MQ=255)                              aacaaAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGAcc                                                                                                          >  1:626169/1‑149 (MQ=255)                                ctgtgaTGTGTCTGGCGCGGGTTTATGGGGTTTGACGTGATCGGCAGCGAGTACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGTGACGACCAt                                                                                                        <  2:374182/144‑1 (MQ=255)                                caaAAATGTGTCTGTCGCGGGGTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCAt                                                                                                        >  2:369402/1‑149 (MQ=255)                                           cTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTc                                                                                             <  2:389954/149‑1 (MQ=255)                                                     tttATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATcaa                                                                                   >  1:728849/1‑149 (MQ=255)                                                          ggTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACAACCATGCCACCTTTTCACCACCTccgcacgc                                                                              >  2:264815/1‑142 (MQ=255)                                                           gtgtTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGCCGACCATGCCAACTTTTCACCACATCAACAagag                                                                             >  1:734825/1‑149 (MQ=255)                                                              tttGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACGGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGaa                                                                          >  1:399869/1‑149 (MQ=255)                                                              tttGACGAGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCCACAGACATTGGGCGCCGACCATGCCAACTTTTCACCACATCAACAAGAGGaa                                                                          <  2:396069/149‑1 (MQ=255)                                                                       aTCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTCCGa                                                                 >  2:44044/1‑149 (MQ=255)                                                                        cttgCAGGGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGAc                                                                <  2:564082/146‑1 (MQ=255)                                                                        atggCAGCGACGTTGGCTTTAAAATGATGGCCACATCCCAGGTGCGACAGAAATGCCTAAGAGATGGCGTTTTAACCCCCCGTTCCTACAGCCATTGGGCGTCGACCGTGCCAACTTCTCACCACGTCATCAAGAGGAAGCGGTTCGAc                                                                <  2:102518/147‑1 (MQ=255)                                                                               cgactaCGCAGTCAAAATAATGGCGTAAGCCCAGGTGCTCCAGAAATGCCTCAGCGATGGCGCTTTAACTCTCCGTTCCTACAGCCAATGGGCGACGCCCATGCCAACCTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATcc                                                         <  2:291375/149‑1 (MQ=255)                                                                                   gacgGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCcagca                                                     <  1:612261/149‑1 (MQ=255)                                                                                               ataatGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTa                                         <  1:86995/149‑1 (MQ=255)                                                                                                      cGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACGGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTc                                  <  2:399869/149‑1 (MQ=255)                                                                                                           tCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGttt                             <  2:626169/149‑1 (MQ=255)                                                                                                             ccAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGttttt                           >  1:286884/1‑149 (MQ=255)                                                                                                             ccAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTGCCTACAGCCATTGTGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGatttt                           >  1:1047/1‑149 (MQ=255)                                                                                                              cAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGtttttt                          <  2:286884/149‑1 (MQ=255)                                                                                                                    cgcCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTCCTGCTTCTGTTTTTTCAcgcg                    >  1:316860/1‑149 (MQ=255)                                                                                                                      ccAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATACCAACTTTTCACCACATCAACAGGAGGAAGCGGTTCGACGCTATCCAGCAGCATAATTCTTACTGCTTCTGTTTTTTGACGCGCt                  >  2:517275/1‑149 (MQ=255)                                                                                                                         gCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAAc               <  1:63626/149‑1 (MQ=255)                                                                                                                              gCCTCCGCGATGGCCCTTTAACCCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATg          <  2:529195/149‑1 (MQ=255)                                                                                                                              gCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGAGAGAGAACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATg          <  1:20919/149‑1 (MQ=255)                                                                                                                                      gATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGGGTCga  >  2:232780/1‑149 (MQ=255)                                                                                                                                                 |                                                                                                                                          TCGGTTGCACGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTCACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGGGTCGA  >  NC_000913_3_hsa_tpiA/2817026‑2817307

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: ‑