Predicted mutation
evidence seq id position mutation freq annotation gene description
RA USA300TCH1516_ALE 1,324,487 G→A 10.0% R420H (CGT→CAT)  mutL → DNA mismatch repair protein MutL

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*USA300TCH1516_ALE1,324,4870GA10.0% 147.4 / 5.1 54R420H (CGT→CAT) mutLDNA mismatch repair protein MutL
Reads supporting (aligned to +/- strand):  ref base G (23/25);  new base A (2/4);  total (25/29)
Fisher's exact test for biased strand distribution p-value = 6.75e-01
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 7.44e-01

AGAAAGTAACAGTAAGCCATTTATGGAAGAAAATCAAAACGATGAGATAGTTATAAAAGAAGATTCATATAATCCATTCGTAACGAAAACATCTGAAAGTTTAATAGCTGATGATGAATCTTCTGGTTATAATAATACACGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACATTTGATTCAAATGATGGTACAACTGTGCAAAATTATGAGAATAAAGCGTCTGATGATTATTATGATGTAAACGATATT  >  USA300TCH1516_ALE/1324347‑1324626
                                                                                                                                             |                                                                                                                                           
agaaAGTAAGAATACGCCATTGATTGAAGAAAATCAAAACGATGAGATAGTTATAAAAGAAGATTCATATAATCCATTCGTAACGAAAACATCTGAAAGTTTAATAGCTGATGATGAATCTTCTGGTTATAATAATACACg                                                                                                                                             <  2:329493/141‑1 (MQ=255)
 gaaAGTAACAGTAAGCCATTTATGGAAGAAAATCAAAACGATGAGGTAGTTATAAAAGAAGATTCATATAATCCATTCGTAACGAAAACATCTGAAAGTTTAATAGCTGATGATGAATCTTCTGGTTATAATAATACACGt                                                                                                                                            <  2:94880/141‑1 (MQ=255)
       aaCAGTAAGCCATTTATGGAAGAAAATCAAAACGATGAGATAGTTATAAAAGAAGATTCATATAATCCATTCGTAACGAAAACATCTGAAAGTTTAATAGCTGATGATGAATCTTCTGGTTATAATAATACACGTGaaaaa                                                                                                                                      >  1:281555/1‑141 (MQ=255)
       aaCAGCAAGCCATTTATGGAAGAAAATCAAAACGATGAGATAGTTATAAAAGAAGATTCATATAATCCATTCGTAACGAAAACATCTGAAAGTTTAATAGCTGATGATGAATCTTCTGGTTATAATAATACACGTGaaaaa                                                                                                                                      <  1:216893/141‑1 (MQ=255)
              aGCCATTTATGGAAGAAAATCAAAACGATGAGATAGTTATAAAAGAAGATTCATATAATCCATTCGTAACGAAAACATCTGAAAGTTTAATAGCTGATGATGAATCTTCTGGTTATAATAATACACGTGAAAAAGATGAAg                                                                                                                               >  1:16362/1‑141 (MQ=255)
              aGCCATTTATGGAAGAAAATCAAAACGATGAGATAGTTATAAAAGAAGATTCATATAATCCATTCGTAACGAAAACATCTGAAAGTTTAATAGCTGATGATGAATCTTCTAGTTATAATAATACACGTGAACAAGATGAAg                                                                                                                               >  2:269457/1‑141 (MQ=255)
                   tttATGGAAGAAAATCAAAACGATGAGATAGTTATAAAAGAAGATTCATATAATCCATTCGTAACGAAAACATCTGAAAGTTTAATAGCTGATGATGAATCTTCTGGTTATAATAATACACGTGAAAAAGATGAAGactac                                                                                                                          <  1:120446/141‑1 (MQ=255)
                   tgtATGGAAGAAAATAAAAAAGATGAGATAGTTATAAAAGAAGATTCATATAATCCATTCGTAACGAAAACATCTGAAAGTTTAATAGCTGATGATGAATCTTCTGGTTATAATAATAAAAAAAAAAAAGATGAAGactac                                                                                                                          <  2:142530/139‑1 (MQ=255)
                      aTGGAAGAAAATCAAAACGATGAGATAGTTATAAAAGAAGATTCATATAATCCATTCGTAACGAAAACATCTGAAAGTTTAATAGCTGATGATGAATCTTCTGGTTATAATAATACACGTGAAAAAGATGAAGACTACTTc                                                                                                                       <  2:68933/141‑1 (MQ=255)
                        ggAAGAAAATCAAAACGATGAGATAGTTATAAAAGAAGATTCATATAATCCATTCGTAACGAAACCGTCTTAAAATTTATAGAAGGAGTTGGAATCTTCTGGTTATAATAATACACGTGAAAAAGATGAAGACTACTTCaa                                                                                                                     >  2:400425/1‑141 (MQ=255)
                             aaaaTCAAAACGATGAGATAGTAATAAAAGAAGATTCATATAATCCATTCGTAACGAAAACATCTGAAAGTTTAATAGCTGATGATGAATCTTCTGGTTATAATAATACACGTGAAAAAGATGAAGACTACTTCAAAAaac                                                                                                                <  2:340391/141‑1 (MQ=255)
                                  cgcaaCGAAGAGAAAGTTATAAAAGAAGATCCATATAATCCATTCGTAACGAAAACATCTGAAAGTTTAATAGCTGATGATGAATCTTCTGGTTATAATAATACACGTGAAAAAGATGAAGACTACTTCAAAAAAcaacaa                                                                                                           <  1:334647/138‑1 (MQ=255)
                                     aaCGATGAGATAGTTATAAAAGAAGATTCATATAATCCATTCGTAACGAAAACATCTGAAAGTTTAATAGCTGATGATGAATCTTCTGGTTATAATAATACACGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGaa                                                                                                        >  1:118634/1‑141 (MQ=255)
                                      aCGATGAGATAGTTATAAAAGAAGATTCATATAATCCATTCGTAACGAAAACATCTGAAAGTTTAATAGCTGATGATGAATCTTCTGGTTATAATAATACACGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGaaa                                                                                                       <  2:16362/141‑1 (MQ=255)
                                        gATGAGATAGTTATAAAAGAAGATTCATATAATCCATTCGTAACGAAAACATCTGAAAGTTTAATAGCTGATGATGAATCTTCTGGTTATAATAATACACGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAAtt                                                                                                     >  1:372539/1‑141 (MQ=255)
                                            agatagatATAAAAGAAGATTCATATAATCCATTCGTAACGAAAATATCTAAAAGGTTAATAGCCAATAATAAAACGTCTGGTTATAATAATACACGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTAc                                                                                                 <  2:4113/141‑1 (MQ=255)
                                            agaTAGTTATAAAAGAAGATTCATATAATCCATTCGTAACGAAAACATCTGAAAGTTTAATAGCTGATGATGAATCTTCTGGTTATAATAATACACGTGAAAAAGATGAAGACTACTTCCAAATACAACAAGAACTTTTAc                                                                                                 >  2:122011/1‑141 (MQ=255)
                                              aTAGTTATAAAAGAAGATTCATATAATCCATTCGTAACGAAAACATCTGAAAGTTTAATAGCTGATGATGAATCTTCTGATTATAATAATACACGTGAAAAAGATAAAGACTACTTCAAAAAACAACAAGAAATTTTACaa                                                                                               >  2:85370/1‑141 (MQ=255)
                                                     taAAAGAAGATTCATATAATCCATTCGTAACGAAAACATCTGAAAGTTTAATAGCTGATGATGAATCTTCTGGTTATAATAATACACGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATgg                                                                                        <  1:270096/141‑1 (MQ=255)
                                                         agaagaTTCATATAATCCATTCGTAACGAAAACATCTGAAAGTTTAATAGCTGATGATGAATCTTCTGGTTATAATAATACACGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCa                                                                                    <  1:89416/141‑1 (MQ=255)
                                                             gaTTCATATAATCCATTCGTAACGAAAACATCTGAAAGTTTAATAGCTGATGATGAATCTTCTGGTTATAATAATACACGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACa                                                                                >  1:157277/1‑141 (MQ=255)
                                                               ttCATATAATCCATTCGTAACGAAAACATCTGAAAGTTTAATTGTACAGTAGTAATCTTCTGGTTATAATAATACACGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACAtt                                                                              <  2:398337/141‑1 (MQ=255)
                                                                  atatAATCCATTCGTAACGAAAACATCTGAAAGTTTAATAGCTGATGATGAATCTTCTGGTTATAATAATACACGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACATTTGa                                                                           <  1:130403/141‑1 (MQ=255)
                                                                  atatAATCCATTCGTAACGAAAACATCTGAAAGTTTAATAGCTGATGATGAAGCTTCTCGTTTTATGTACTTAGGGGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACATTTGa                                                                           <  1:194286/141‑1 (MQ=255)
                                                                    ataATCCATTCGTAACGAAAACATCTGAAAGTTTAATAGCTGATGATGAATCTTCTGGTTATAATAATACACATGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACATTTGAtt                                                                         >  2:265726/1‑141 (MQ=255)
                                                                    ataATCCATTCGTAACGAAAACATCTGAAAGTTTAATAGCTGATGATGAATCTTCTGGTTATAATAATACACATGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACATTTGAtt                                                                         >  2:265785/1‑141 (MQ=255)
                                                                             tCGTAACGAAAACATCTGAAAGTTTAATAGCTGATGATGAATCTTCTGGTTATAATAATACACGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGTATCAAACATTTGATTAAAatgatg                                                                >  1:398119/1‑141 (MQ=255)
                                                                              cGTAACGAAAACATCTGAAAGTTTAATAGCTGATGATGAATCTTCTGGTTATAATAATACACGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACATTTGATTCAAATGATgg                                                               >  2:143018/1‑141 (MQ=255)
                                                                                    gAAAACATCTGAAAGTTTAATAGCTGATGATGAATCTTCTGGTTATAATAATACACGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACATTTGATTCAAATGATGGTACAAc                                                         <  2:223927/141‑1 (MQ=255)
                                                                                         cATCTGAAAGTTTAATAGCTGATGATGAATCTTCTGGTTATAATAATACACGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACATTTGATTCAAATGATGGTACAACTGTGc                                                    >  1:327757/1‑141 (MQ=255)
                                                                                         cATCTGAAAGTTTAATAGCTGATGATGAATCTTCTGGTTATAATAATACACGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACATTTGATTCAAATGATGGTACAACTGTGc                                                    >  1:327663/1‑141 (MQ=255)
                                                                                         cATCTGAAAGTTTAATAGCTGATGATGAATCTTCTGGTTATAATAATACACGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACATTTGATTCAAATGATGGTACAACTGTGc                                                    >  1:174879/1‑141 (MQ=255)
                                                                                         cATCTGAAAGTTTAATAGCTGATGATGAATCTTCTGGTTATAATAATACACGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACATTTGATTCAAATGATCGTACAACTGTGc                                                    >  2:288096/1‑141 (MQ=255)
                                                                                          aTCTGAAAGTTTAATAGCTGATGATGAATCTTCTGGTTATAATAATACACGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACATTTGATTCAAATGATGGTACAACTGTGCa                                                   <  1:373385/141‑1 (MQ=255)
                                                                                            ttGAAAGTTTAATAGATGATGATGAATCTTCAGATTATAATAATACACGTGAAAAAGATAAATACTACTTCAAAAAACAACTATAAATTTTACAAGAAATGGATCAAACATTTGATTCAAATGATGGTACAACTGTGCaaa                                                 <  2:333961/140‑1 (MQ=255)
                                                                                                      aaTAGCTGATGATGAATCTTCTGGTTATAATAATACACGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACATTTGATTCAAATGATGGTACAACTGTGCAAAATTATGAGaa                                       >  2:379543/1‑141 (MQ=255)
                                                                                                      aaTAGCTGATGATGAATCTTCTGGTTATAATAATACACGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACATTTGATTCAAATGATGGTACAACTGTGCAAAATTATGAGaa                                       <  2:281555/141‑1 (MQ=255)
                                                                                                            agatgatgaATCTTCTGATTATAATAATACACGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACATTTGATTCAAATGATGGTACAACTGTGCAAAATTATGAGAATAAAGc                                 <  2:385158/140‑1 (MQ=255)
                                                                                                            agatgatgaAACGTCTGGTTATAATAATACACGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACATTTGATTCAAATGATGGTACAACTGTGCAAAATTATGAGAATAAAGc                                 <  2:237834/140‑1 (MQ=255)
                                                                                                             gatgatgaATCTTCTGGTTATAATAATACACGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACATTTGATTCAAATGATGGTACAACTGTGCAAAATTATGAGAATAAAGCg                                <  1:385378/141‑1 (MQ=255)
                                                                                                             gatgatgaATCTTCTGGTTATAATAATACACATGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACATTTGATTCAAATGATGGTACAACTGTGCAAAATTATGAGAATAAAGCg                                <  1:265726/141‑1 (MQ=255)
                                                                                                             gatgatgaATCTTCTGGTTATAATAATACACATGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACATTTGATTCAAATGATGGTACAACTGTGCAAAATTATGAGAATAAAGCg                                <  1:265785/141‑1 (MQ=255)
                                                                                                                    gaATCTTCTGGTTATAATAATACACGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACATTTGATTCAAATGATGGTACAACTGTGCAAAATTATGAGAATAAAGCGTCggat                          >  1:119119/1‑141 (MQ=255)
                                                                                                                      aTCTTCTGGTTATAATAATACACGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACATTTGATTCAAATGATGGTACAACTGTGCAAAATTATGAGAATAAAGCGTCtgatga                        >  2:208739/1‑141 (MQ=255)
                                                                                                                             ggTTATAAAAATACACGTGAAAAAGATGAAGACTACTTCAAAAAACAACAATAAATTTTACAAGAAATGGATCAGATATTTGATTCAAATGATGGTACAACTGTGCAAAATTATGAGAATAAAGCGTCTGATGATtattat                 <  2:313035/141‑1 (MQ=255)
                                                                                                                               ttATAATAATACACGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACATTTGATTCAAATGATGGTACAACTGCCAAACCTTCTGCGCACAAATCTGCTGATGATTATTatga               <  1:391969/141‑1 (MQ=255)
                                                                                                                               ttATAATAATACACGTGAAAAAGATAAAGACTACATCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACATTGGATTCAAATGATGGTACAACTGTGCAAAATTATGAGAATAAAGCGTCTGATGATTATTatga               <  2:302221/141‑1 (MQ=255)
                                                                                                                               atataATAATACACATGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACATTTGATTCAAATGATGGTACAACTGTGCAAAATTATGAGAATAAAGCGTCTGATGATTATTatga               <  2:394934/140‑1 (MQ=255)
                                                                                                                                  taataataCACGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACATTTGATTCAAATGATGGTACAACTGTGCAAAATTATGAGAATAAAGCGTCTGATGATTATTATGATGt            >  2:322168/1‑141 (MQ=255)
                                                                                                                                  aaataataCACGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACATTTGATTCAAATGATGGTACAACTGTGCAAAATTATGAGAATAAAGCGTCTGATGATTATTATGATGt            <  1:266454/140‑1 (MQ=255)
                                                                                                                                      aataCACGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACATTTGATTCAAATGATGGTACAACTGTGCAAAATTATGAGAATAAAGCGTCTGATGATTATTATGATGTAAAc        <  1:337492/141‑1 (MQ=255)
                                                                                                                                         acacGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACATTTGATTCAAATGATGGTACAACTGTGCAAAATTATGAGAATAAAGCGTCTGATGATTATTATGATGTAAACGat     >  2:192547/1‑141 (MQ=255)
                                                                                                                                           acGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACATTTGATTCAAATGATGGTACAACTGTGCAAAATTATGAGAATAAAGCGTCTGATGATTATTATGATGTAAACGatat   >  1:385041/1‑141 (MQ=255)
                                                                                                                                            cGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACATTTGATTCAAATGATGGTACAACTGTGCAAAATTATGAGAATAAAGCGTCTGATGATTATTATGATGTAAACGATAtt  >  2:388041/1‑141 (MQ=255)
                                                                                                                                            cGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACATTTGATTCAAATGATGGTACAACTGTGCAAAATTATGAGAATAAAGCGTCTGATGATTATTATGATGTAAACGATAtt  >  2:104748/1‑141 (MQ=255)
                                                                                                                                             |                                                                                                                                           
AGAAAGTAACAGTAAGCCATTTATGGAAGAAAATCAAAACGATGAGATAGTTATAAAAGAAGATTCATATAATCCATTCGTAACGAAAACATCTGAAAGTTTAATAGCTGATGATGAATCTTCTGGTTATAATAATACACGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACATTTGATTCAAATGATGGTACAACTGTGCAAAATTATGAGAATAAAGCGTCTGATGATTATTATGATGTAAACGATATT  >  USA300TCH1516_ALE/1324347‑1324626

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: