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%	147.3 / NA	46	E112* (GAA→TAA)	yqaB	fructose‑1‑P and 6‑phosphogluconate phosphatase
Reads supporting (aligned to +/- strand):  ref base C (0/0);  new base A (23/23);  total (23/23)

TCGGTTGCACGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTCACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGG  >  NC_000913_3_hsa_tpiA/2817026‑2817302                                                                                                                                                 |                                                                                                                                     tCGGTTGCACGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTc                                                                                                                                  >  1:40022/1‑149 (MQ=255)  cGGTTGCACGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTcc                                                                                                                                 <  2:13066/149‑1 (MQ=255)      tGCACGCCCATACGCTGCGCGCACAACAAAAAGGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGt                                                                                                                             <  1:487219/149‑1 (MQ=255)        cACGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTAACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTc                                                                                                                           <  2:39986/149‑1 (MQ=255)        cACGCCCATACGCTGCCCGCACAACAAAAATGGGTCTCGCGCGGGTTTATGGTGTTTGATGTGCTCGGCAGCGACGAGGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGGGATGGCGCTTTAACTCCCCttta                                                                                                                           <  2:761598/149‑2 (MQ=255)         aCGGCCATACGCGGCGCGGAAAAAAAAAAGGTGTCGGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTcc                                                                                                                          <  2:82629/149‑1 (MQ=255)         aCGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTcc                                                                                                                          >  1:576184/1‑149 (MQ=255)               aTACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGc                                                                                                                    <  2:40022/149‑1 (MQ=255)                     tGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTgg                                                                                                              <  2:291893/149‑1 (MQ=255)                     tGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATACCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATAgg                                                                                                              >  1:213156/1‑149 (MQ=255)                              aacaaAAATGTGTCTGGCGCGAGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGAcc                                                                                                     >  1:534715/1‑149 (MQ=255)                                cgaaaaTGTGTCTGGCGCGGGTCTCTGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGATGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTACCCGTTCCTACAGCCATTGGCCGACGACCAt                                                                                                   >  2:714775/3‑149 (MQ=255)                                 aaaaaTGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATg                                                                                                  >  2:218205/1‑149 (MQ=255)                                 aaaaaTGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGAGCGACGACCATg                                                                                                  >  2:41050/1‑149 (MQ=255)                                  aaaaTGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGc                                                                                                 <  2:605899/149‑1 (MQ=255)                                          tCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTa                                                                                                                        <  1:692753/118‑1 (MQ=255)                                          tCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTa                                                                                                                        >  2:692753/1‑118 (MQ=255)                                           cgggCGCGGGTTTATGGTGTTTGGTGTGATCGGCAGCGACGAAGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTc                                                                                        <  2:389221/147‑1 (MQ=255)                                             ggtgctcgTTTATAGTGTTTGCCTCGCTCTGCAGCCACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCTATGCCTCAGCGATCGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCTAACTTTTcac                                                                                      <  1:152352/142‑1 (MQ=255)                                                         tGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAag                                                                          >  1:751788/1‑149 (MQ=255)                                                          ggTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAaga                                                                         <  1:183103/149‑1 (MQ=255)                                                           gtgtTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAagag                                                                        >  1:49559/1‑149 (MQ=255)                                                              tttGACGTGAGCGGCAGCGACGACGGCGGCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGGGACAACCAGCCCAACTTTTCACCACATCAACAagaagat                                                                     >  2:790671/1‑148 (MQ=255)                                                                     tGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGtcc                                                              >  1:386605/1‑147 (MQ=255)                                                                     tGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTc                                                              <  1:720463/149‑1 (MQ=255)                                                                     tGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTc                                                              >  2:463845/1‑149 (MQ=255)                                                                          ggCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGc                                                         >  2:299076/1‑149 (MQ=255)                                                                                gacgacGGAGTCACAATAATGGAAAAATTGCAGGCGCCCGAGCAATGCCTCATCGAGGCCGCTTTAACTCCCCATTACTACAGCCATTGGGCGACAACCATTCCAACTTTTCACCAGATCAACAAGAGGAAGCGGTTCGACGCTATCca                                                   >  2:489151/1‑149 (MQ=255)                                                                                        cggcAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATa                                           <  2:715502/146‑1 (MQ=255)                                                                                          tCAAAAGAATGGCGTAATCCCAGGTGGGCCAGCAATGCGTCAGAGGTTTTTCGTTAACTCCCCGTTCATACAGCCATGGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATAct                                         <  1:396842/149‑1 (MQ=255)                                                                                            aaaaTAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCCCCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATActtc                                       >  1:695454/1‑149 (MQ=255)                                                                                            aaaaTAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATActtc                                       >  2:355620/1‑149 (MQ=255)                                                                                                     gCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATcaac                                                                             <  1:436412/102‑1 (MQ=255)                                                                                                     gCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATcaac                                                                             >  2:436412/1‑102 (MQ=255)                                                                                                              cAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGtttttt                     <  2:576184/149‑1 (MQ=255)                                                                                                               aGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTc                    <  1:218205/149‑1 (MQ=255)                                                                                                                ggTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCa                   <  1:299076/149‑1 (MQ=255)                                                                                                                        aGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGCGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTa                                    >  2:732137/1‑124 (MQ=255)                                                                                                                        aGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTa                                    <  1:732137/124‑1 (MQ=255)                                                                                                                            aTGCCTCAGCGATTGCGTCTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGTAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCa       <  1:211922/149‑1 (MQ=255)                                                                                                                              gCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATg     >  2:567191/1‑149 (MQ=255)                                                                                                                              ctcTCAGCGCTGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAAACGGCGAACACGTGTCTGCGCTATCCAGCAGCATACTTCTTACTGCTTCGGTTTTTTCACGCGCTAACGCATg     <  1:366112/147‑1 (MQ=255)                                                                                                                                 tCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTATTGCTTCTGTTTTTTCTCGCGCTAGCGCATGCgg  >  2:366112/1‑149 (MQ=255)                                                                                                                                 tCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCAACCCTTAAACCACAGCAAGAGGGTGAGGAGGCGAATACCCAACCACCATCAGACGCCTAACTGCTTCTGTTTTTTCACGCGCGAACGCATGccg  >  2:589552/1‑147 (MQ=255)                                                                                                                                      gATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCgg  >  2:167429/1‑144 (MQ=255)                                                                                                                                      gATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCgg  <  1:167429/144‑1 (MQ=255)                                                                                                                                                 |                                                                                                                                     TCGGTTGCACGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTCACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGG  >  NC_000913_3_hsa_tpiA/2817026‑2817302

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: ‑