Predicted mutation
evidence seq id position mutation annotation gene description
RA NC_000913_3_hsa_tpiA 2,679,525 G→T A1074D (GCT→GAT)  yphG ← DUF4380 domain‑containing TPR repeat protein

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_000913_3_hsa_tpiA2,679,5250GT93.3% 65.7 / ‑4.5 31A1074D (GCT→GAT) yphGDUF4380 domain‑containing TPR repeat protein
Reads supporting (aligned to +/- strand):  ref base G (0/2);  new base T (14/14);  total (14/17)
Fisher's exact test for biased strand distribution p-value = 4.85e-01
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.81e-01

GCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAAGCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGACAACAAGTCAGG  >  NC_000913_3_hsa_tpiA/2679399‑2679667
                                                                                                                              |                                                                                                                                              
gCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATACACGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGGTTCATGCCCGTGAAtta                                                                                                                          >  1:164684/1‑148 (MQ=255)
   ttttCTAATTTTTTTTTGATGGGCGGCAGCGCGTGCCGCTCAAATATTATAGTTAATAGGGTTGAGTGAACGCGGTTAAAAATACAAGGCATCAAGATGGTGAACAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAgc                                                                                                                       <  2:339048/147‑1 (MQ=255)
        tAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGTTATGCCTGATTAATCGCCGTCAATTCAGCGCGAg                                                                                                                  <  1:252762/149‑1 (MQ=255)
          attattTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATGAATCGCCGTCAATTAAGCGCGAGCa                                                                                                                >  1:126606/1‑149 (MQ=255)
                        aGCGGCAGCGCGTGCCGCTGAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTACAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTgcgc                                                                                                  <  1:480679/149‑1 (MQ=255)
                         gCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCa                                                                                                 <  2:408928/149‑1 (MQ=255)
                           ggCATCGCGGGCCGCTCAAATATTACAGTAAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCCTCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAAc                                                                                               <  1:382445/149‑1 (MQ=255)
                           ggCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATGCGGATTAATCGCCGTCAATTCAACGCGAGCAGACTCATATTGCGCaaa                                                                                               >  2:185970/1‑148 (MQ=255)
                             cAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCt                                                                                             >  2:291144/1‑149 (MQ=255)
                               gcgcGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTcc                                                                                           >  2:419420/1‑149 (MQ=255)
                                       cGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGCAAAAAATGCCAGGTACCTCGTGGGGGAATATTGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTTCGCAAGCTCCCCGAGTcc                                                                                   >  2:58684/1‑149 (MQ=255)
                                          caaaaatttATAGTTAATAGGTCTGAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCCCCGTCAATTCAGCTCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCcgc                                                                                <  2:164684/142‑1 (MQ=255)
                                           cAAAGATGACAGTTAATAGGGTTTAGGGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAAGCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCcgcg                                                                               <  1:315649/149‑1 (MQ=255)
                                                atTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATAACGGTGTTGAATAATTCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCACCCTCCCCTAGTCCCCCggcccc                                                                          >  2:464248/1‑145 (MQ=255)
                                                       ttAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAATCTCCCCGAGTCCCGCGGACGCCAGAATc                                                                   <  2:277487/149‑1 (MQ=255)
                                                              ggTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGGGTCCCGCGGACGCCAGCATCGccacca                                                            >  1:250608/1‑149 (MQ=255)
                                                                             gTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCtt                                             >  2:169353/1‑149 (MQ=255)
                                                                                  aaaTAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAACCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTAtgc                                        <  1:63012/149‑1 (MQ=255)
                                                                                        aaGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGa                                                                                       <  1:445556/96‑1 (MQ=255)
                                                                                        aaGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGa                                                                                       >  2:445556/1‑96 (MQ=255)
                                                                                           gcctCACGGTGGTCAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCtgttgt                               <  1:468419/146‑1 (MQ=255)
                                                                                           gCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCtgttgt                               <  1:169353/149‑1 (MQ=255)
                                                                                           gCATCACGGTGGTGAATAATACCGCTTCCGGCCAATCCGAAAACACCACCAGCAATTCAGCGCCGGCACACTCAGAGTGCACAACCTCCCCGAGTCCCGCGGACGCCAGCATCACCACCATCCGCCATTTTTCTTTAAGCTGCagttgt                               >  2:237833/1‑149 (MQ=255)
                                                                                                     ggtgAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCAt                     >  2:171274/1‑149 (MQ=255)
                                                                                                      atgAATAATGCCGCTTTCGGCCATTACGTATTAATCGCTGTCATTGCTGCGCGAGCAGACTCATATTTCTCAACCTCCCCGAGTCCCGCGGACGCCGGCATCGCCACCATCAGGCATTTCTCTTTATGCTGCTGTTGTACATTCCCATa                    >  2:46945/2‑149 (MQ=255)
                                                                                                        gAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATc                                                                   >  2:227753/1‑100 (MQ=255)
                                                                                                        gAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATc                                                                   <  1:227753/100‑1 (MQ=255)
                                                                                                          ataatGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGc                <  1:171274/149‑1 (MQ=255)
                                                                                                               gCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGTGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCACACAGCGacaa           <  1:494061/149‑1 (MQ=255)
                                                                                                                       cGGCCAATCCGGATTAATCGCCGGCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGACAACAAGTCAg   <  1:464248/149‑1 (MQ=255)
                                                                                                                        ggCAAATCCGGTTTCATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGACAACAAGTCAgg  <  1:320927/149‑1 (MQ=255)
                                                                                                                              |                                                                                                                                              
GCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAAGCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGACAACAAGTCAGG  >  NC_000913_3_hsa_tpiA/2679399‑2679667

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: