Summary of WES analysis and identification of segregating novel predicted damaging/deleterious variants in a Dutch melanoma family
Gene | Change | Ch | Ref | Alt | Type* | SIFT | Polyphen | MAF† |
GPATCH3 | p.Gly131Arg | 1 | C | T | Missense | Deleterious | probably_ damaging | 0.00006168 |
ATPIF1 | p.Arg94His | 1 | G | A | Missense | Deleterious | probably_ damaging | 0.00004406 |
KALRN | p.Ser1629Cys | 3 | C | G | Missense | Deleterious | probably_ damaging | 0.00002641 |
NEK11 | p.Arg374Ter | 3 | C | T | Stop-gained | 0.00002641 | ||
ZNF192 | p.Arg66Ter | 6 | C | T | Stop-gained | 0.000008791 | ||
GPR111 | p.Ser168Arg | 6 | T | A | Missense | Deleterious | probably_ damaging | 0.00006486 |
GPAM | p.Pro403Thr | 10 | G | T | Missense | Deleterious | probably_ damaging | 0.000008794 |
NELL1 | p.Val755Met | 11 | G | A | Missense | Deleterious | probably_ damaging | 0.0002261 |
KRT77 | p.Asp316Asn | 12 | C | T | Missense | Deleterious | probably_ damaging | 0.00001502 |
OAS2 | p.Tyr269Cys | 12 | A | G | Missense | Deleterious | probably_ damaging | – |
DNAJC3 | p.Arg346Gln | 13 | G | A | Missense | Deleterious | probably_ damaging | 0.0001553 |
TEP1 | p.Arg1386Trp | 14 | G | A | Missense | Deleterious | possibly_ damaging | 0.001266 |
PLCB2 | p.Arg253Trp | 15 | G | A | Missense | Deleterious | probably_ damaging | 0.001074 |
DNASE1 | p.Ala168Val | 16 | C | T | Missense | Deleterious | possibly_ damaging | 0.001402 |
BFAR | p.Phe53Ile | 16 | T | A | Missense | Deleterious | possibly_ damaging | – |
ITGB4 | p.Arg556Cys | 17 | C | T | Missense | Deleterious | possibly_ damaging | 0.0006357 |
PSG7 | p.Trp67Ser | 19 | C | G | Missense | Deleterious | probably_ damaging | 0.0001473 |
GPR50 | p.Gly93Ala | X | G | C | Missense | Deleterious | possibly_ damaging | 0.00001240 |
GABRQ | p.Arg254Cys | X | C | T | Missense | Deleterious | probably_ damaging | 0.00007713 |
*Variants characterised by ExAC/gnomAD/Genome of The Netherlands/Ensembl databases.
†MAF in European (Non-Finnish) population.
WES, whole-exome sequencing.