Table 1 Description of somatically acquired point mutations detected in the DSRCT by whole-exome sequencing
Chromosome position | Gene symbol | Variant description | Variant type | Frequency (tumor coverage) | Coverage of leukocyte DNA | dbSNP | PolyPhen | Sift | Mutation taster |
|---|---|---|---|---|---|---|---|---|---|
chr3:436494 | CHL1 | c.3033A>G, p.A111A | Synonymous | 35% (55×) | 53× | – | – | – | – |
chr6:134305546 | TBPL1 | c.315T>G, p.V105V | Synonymous | 23% (31×) | 28× | – | – | – | – |
chr12:34179763 | ALG10 | c.1335A>T, p.A445A | Synonymous | 43% (82×) | 66× | – | – | – | – |
chr1:45808899 | TOE1 | c.1058C>T, p.P353L | Missense | 20% (15×) | 18× | rs145913038 | Benign | Damaging | Polymorphism |
chr2:162875307 | DPP4 | c.1352C>T, p.P451L | Missense | 37% (41×) | 46× | – | Deleterious | Tolerated | Disease causing |
chr5:126753368 | MEGF10 | c.1169G>C, p.G390C | Missense | 22% (82×) | 39× | – | Deleterious | Damaging | Disease causing |
chr5:26915867 | CDH9 | c.394G>C, p.D132Y | Missense | 25% (71×) | 75× | – | Deleterious | – | Disease causing |
chr6:123319098 | CLVS2 | c.176G>A, p.R59Q | Missense | 40% (25×) | 20× | – | Deleterious | Damaging | Disease causing |
chr8:106813312 | ZFPM2 | c.1002T>A, p.S334R | Missense | 28% (36×) | 44× | – | Deleterious | Tolerated | Disease causing |
chr8:72983969 | TRPA1 | c.245T>C, p.I82T | Missense | 36% (45×) | 35× | – | Deleterious | Damaging | Disease causing |
chr15:37385900 | MEIS2 | c.521G>A, p.R86Q | Missense | 26% (31×) | 23× | – | Possible damaging | Damaging | Disease causing |
chr16:76495948 | CNTNAP4 | c.1210G>T, p.A404S | Missense | 33% (42×) | 43× | – | Benign | Tolerated | Disease causing |
chr17:10300120 | MYH8 | c.4362G>T, p.K1454N | Missense | 26% (38×) | 33× | – | Deleterious | – | Disease causing |
chr19:53057457 | ZNF808 | c.1288G>T, p.E430Ter | Nonsense | 43% (30×) | 27× | – | – | Tolerated | Polymorphism |
chr20:43385680 | RIMS4 | c.455-2T>A | 3’ splice site | 28% (29×) | 37× | – | – | – | – |