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%	141.4 / NA	43	E112* (GAA→TAA)	yqaB	fructose‑1‑P and 6‑phosphogluconate phosphatase
Reads supporting (aligned to +/- strand):  ref base C (0/0);  new base A (21/22);  total (21/22)

CGTCGGTTGCACGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTG‑CGCCAGCAATGCCTCAGCGATGGCGCTTTCACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGGGTCGAGATCGGC  >  NC_000913_3_hsa_tpiA/2817024‑2817314                                                                                                                                                    |                                                                                                                                                 cGTCGGTTGCACGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGATTATGGTGATTGACTTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTC‑CGCCAGCAATGCCTCCGCGATGGCGCTTTAAc                                                                                                                                                >  2:18968/1‑149 (MQ=255)         gCACGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTG‑CGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGtt                                                                                                                                        <  1:555253/149‑1 (MQ=255)           aCGCCCATCCGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTGATCCCAGGTG‑CGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCCTTcc                                                                                                                                      >  2:161335/1‑149 (MQ=255)           aCGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTG‑CGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTcc                                                                                                                                      >  2:899283/1‑149 (MQ=255)             gCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGACCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTG‑CGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTa                                                                                                                                    <  1:384940/149‑1 (MQ=255)                      cTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTG‑CGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTg                                                                                                                           <  1:19896/149‑1 (MQ=255)                       tGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTG‑CGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTgg                                                                                                                          >  1:785968/1‑149 (MQ=255)                        gcgcgcACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTG‑CGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTggg                                                                                                                         <  1:284087/149‑1 (MQ=255)                               caacaaAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTG‑CGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCgacgac                                                                                                                  <  2:595911/149‑1 (MQ=255)                                aacaaAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTG‑CGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGAGGAcc                                                                                                                 >  1:543098/1‑149 (MQ=255)                                aacaaAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTG‑CGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGAcc                                                                                                                 >  2:275158/1‑149 (MQ=255)                                  caaAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTG‑CGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCAt                                                                                                               <  2:676944/149‑1 (MQ=255)                                           gtCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTG‑CGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCCTTGGGCGACGACCATGCCAACttt                                                                                                      >  2:681240/1‑149 (MQ=255)                                             cgggCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTG‑CGCCAGCAATGCCTCAGCGATGGTGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTc                                                                                                    <  2:814956/147‑1 (MQ=255)                                                 cgcgGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTG‑CGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTcacca                                                                                                <  2:785968/149‑1 (MQ=255)                                                    gggTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTG‑CGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCTATTGGGCGACGACCATGCCAACTTTTCACCACAt                                                                                             <  2:716362/149‑1 (MQ=255)                                                    gggTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTG‑CGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACAt                                                                                             <  1:854010/149‑1 (MQ=255)                                                      gTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTG‑CGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGCCCATGCCAACTTTTCACCCCATca                                                                                           >  2:362608/1‑149 (MQ=255)                                                       tttATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTG‑CGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATcaa                                                                                          >  1:787689/1‑149 (MQ=255)                                                       tttATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTG‑CGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATcaa                                                                                          <  1:516648/149‑1 (MQ=255)                                                            ggTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTG‑CGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAaga                                                                                     <  1:524144/149‑1 (MQ=255)                                                                tttGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTG‑CGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGaa                                                                                 >  1:816757/1‑149 (MQ=255)                                                                     cGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTG‑CGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGt                                                                            >  2:7281/1‑149 (MQ=255)                                                                       tGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTG‑CGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTc                                                                          >  2:667882/1‑149 (MQ=255)                                                                         aTCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTG‑CGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGa                                                                        <  1:41604/149‑1 (MQ=255)                                                                          tCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCGC‑GGTGTCTCCAGCAATTCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCACCAAGAGGAAGCGGTTCGAc                                                                       <  2:868798/149‑1 (MQ=255)                                                                                        ggCGTCAAAATAATGGCGTAATCCCAGGTG‑CGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTc                                                                          <  2:902875/132‑1 (MQ=255)                                                                                        ggCGTCAAAATAATGGCGTAATCCCAGGTG‑CGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTc                                                                          >  1:902875/1‑132 (MQ=255)                                                                                                 ataatGGCGTAATCCCAGGTG‑CGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTa                                                <  2:466216/149‑1 (MQ=255)                                                                                                     tGGCGTAATCCCAGGTG‑CGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGcgacga                                                                                                                   <  2:442010/78‑1 (MQ=255)                                                                                                     tGGCGTAATCCCAGGTG‑CGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGcgacga                                                                                                                   >  1:442010/1‑78 (MQ=255)                                                                                                         gTAATCTCAGGTG‑CGCCAGCAATGCTTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAATAGGAAGCGGTTCGACGCTATTCAGCAGCATACTTCTTACTGCTTCt                                        <  1:820744/149‑1 (MQ=255)                                                                                                         gTAATCCCAGGTG‑CGCCAGCAATGCCTCAGCGATGTCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCt                                        <  1:275158/149‑1 (MQ=255)                                                                                                              cccAGGTG‑CGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGtttt                                   >  2:16030/1‑149 (MQ=255)                                                                                                               ccAGGTG‑CGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGttttt                                  >  1:8904/1‑149 (MQ=255)                                                                                                                          cAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTGTTCACCACATCACCAAGAGCACACGATTCCAAGATATGCCGCAGCATTCTTCTTACTCCTTCTTTTTTTTCACGAGCTa                        >  2:322165/1‑149 (MQ=255)                                                                                                                            gCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAAc                      >  1:278529/1‑149 (MQ=255)                                                                                                                                    tCAGCGATGGCGCTCTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCCACAAGAGCAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCTCGCGCTAACGCATgtag              >  2:192936/1‑146 (MQ=255)                                                                                                                                      aGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGGGt            >  2:559454/1‑149 (MQ=255)                                                                                                                                      aGCGATGGCGCTTTAACTCCCCGTTCATACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGGGt            <  1:291761/149‑1 (MQ=255)                                                                                                                                               gcTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGGGTCGAGATCgg   >  1:349500/1‑149 (MQ=255)                                                                                                                                                cTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCCGCCGGGCAATAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGGGTCGAGATCGGc  <  1:664385/149‑1 (MQ=255)                                                                                                                                                cTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGGGTCGAGATCGGc  <  1:7281/149‑1 (MQ=255)                                                                                                                                                    |                                                                                                                                                 CGTCGGTTGCACGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTG‑CGCCAGCAATGCCTCAGCGATGGCGCTTTCACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGGGTCGAGATCGGC  >  NC_000913_3_hsa_tpiA/2817024‑2817314

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 22 ≤ ATCG/ATCG < 37 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap: ‑    Deleted base: ‑