Table 5 Variant candidate validation by Sanger sequencing
Chromosome #: Position | Gene | Exon | Codon Change | C6 | FAT7 | DSL 6A/C1 | NBTII | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Coverage | AF | Coverage | AF | Coverage | AF | Coverage | AF | ||||||||
Total | Allele | Â | Total | Allele | Â | Total | Allele | Â | Total | Allele | Â | ||||
Chr10:56196111 | Tp53 a | R271H | cGt/cAt | WT | WT | – | 71 d | 71 | 1.000 | WT | WT | – | WT | WT | – |
Chr10:56195619 | Tp53 | R211W | Cgg/Tgg | WT | WT | – | WT | WT | – | WT | WT | – | 197 e | 113 | 0.574 |
Chr10:56195677 | Tp53 | I230T | aTc/aCc | WT | WT | – | WT | WT | – | WT | WT | – | 174 | 90 | 0.529 |
Chr10:48699815 | Ncor1 | E544D | gaG/gaC | 194 | 85 | 0.438 | 157 | 157 | 1.000 | 166 | 166 | 1.000 | 191 | 191 | 1.000 |
Chr2:118851700 | Pik3ca b | M811 T | aTg/aCg | WT | WT | – | WT | WT | – | WT | WT | – | 227 | 111 | 0.489 |
Chr2:118831618 | Pik3ca | C90Y | tGt/tAt | 129 | 62 | 0.481 | WT | WT | – | WT | WT | – | WT | WT | – |
Chr5 | Cdkn2a | Deletion |  | WT | WT | – | WT | WT | – | WT | WT | – | WT | WT | – |
Chr5 | Cdkn2b | Deletion |  | WT | WT | – | WT | WT | – | WT | WT | – | WT | WT | – |
Chr10:66790063 | Nf1 | Q962* | Cag/Tag | 151 | 79 | 0.523 | WT | WT | – | WT | WT | – | WT | WT | – |
Chr1:208011800 | Mki67 | G207R | Ggg/Agg | 314/− f | 68/− | 0.217/− | WT | WT | – | 442/− | 202/− | 0.457/− | WT | WT | – |
Chr1:53731379 | Mllt4 | Q1440* | Caa/Taa | WT | WT | – | 111/− | 30/− | 0.270/− | WT | WT | – | WT | WT | – |
Chr1:200672370 | Fgfr2 | V70 M | Gtg/Atg | 126 | 126 | 1.000 | 159 | 159 | 1.000 | WT | WT | – | WT | WT | – |
Chr8:129618253 | Ctnnb1 | D32V | gAt/gTt | WT | WT | – | WT | WT | – | 55 | 20 | 0.364 | WT | WT | – |
Chr16:50398579 | Fat1 | L2464P | cTc/cCc | WT | WT | – | WT | WT | – | WT | WT | – | 154 | 62 | 0.403 |
Chr16:50485429 | Fat1 | M536 T | aTg/aCg | 131 | 67 | 0.511 | 149 | 149 | 1.000 | WT | WT | – | 196 | 98 | 0.500 |
Chr16:50485954 | Fat1 | F361S | tTc/tCc | WT | WT | – | 175 | 175 | 1.000 | WT | WT | – | WT | WT | – |
Chr3:72125722 | Clp1 c | M417 | atg/ | WT | WT | – | WT | WT | – | 165/− | 25/− | 0.152/− | WT | WT | – |
Chr2:125846677 | Fat4 | I3077V | Att/Gtt | WT | WT | – | WT | WT | – | 200 | 200 | 1.000 | WT | WT | – |
Chr2:125754029 | Fat4 | S627 T | aGt/aCt | WT | WT | – | WT | WT | – | WT | WT | – | 94 | 37 | 0.394 |
Chr2:125754184 | Fat4 | L679F | Ctc/Tcc | WT | WT | – | WT | WT | – | WT | WT | – | 143 | 84 | 0.587 |
Chr5:151918885 | Arid1a | Y658* | taT/taA | WT | WT | – | WT | WT | – | WT | WT | – | 78 | 29 | 0.372 |
Chr16:23972323 | Nat1 | S15 L | tCa/tTa | WT | WT | – | WT | WT | – | WT | WT | – | 300 | 154 | 0.513 |
Chr16:23961976 | Nat2 | L52* | tTa/tAa | WT | WT | – | WT | WT | – | WT | WT | – | 197 | 90 | 0.457 |
Chr8:118824049 | Setd2 | R792TEPSVR | agg/aCTGAACCTTCAGTTAgg | WT | WT | – | 95 | 95 | 1.000 | 103 | 103 | 1.000 | WT | WT | – |
Chr8:118824049 | Setd2 | R79TESSVR | agg/aCTGAATCTTCAGTTAgg | WT | WT | – | WT | WT | – | WT | WT | – | 120 | 38 | 0.317 |
Chr8:87845140 | Impg1 | T133I | aCc/aTc | 151 | 74 | 0.490 | WT | WT | – | WT | WT | – | WT | WT | – |
Chr6:38567303 | Nbas | T837 N | aCc/aAc | 56 | 56 | 1.000 | WT/+ | WT/+ | – | 60 | 60 | 1.000 | WT/+ | WT/+ | – |
Chr6:38567315 | Nbas | A841V | gCg/gTg | 53 | 53 | 1.000 | WT/+ | WT/+ | – | 58 | 58 | 1.000 | WT/+ | WT/+ | – |
Chr8:58154526 | Npat | K1186R | aAg/aGg | 68 | 68 | 1.000 | 50 | 50 | 1.000 | WT | WT | – | WT | WT | – |