Selected novel singleton mutations
Gene . | Sample . | Class . | Reference allele . | Mutant allele . | AA change . | Known mutation . | |
---|---|---|---|---|---|---|---|
ID . | R group . | ||||||
BLNK | 9906_099 | 7 | Missense | G | T | H431N | — |
BRAF | 9906_221 | 3 | Missense | C | T | G30D | — |
CTCF | 9906_003 | 2 | Missense | G | A | R377H | — |
IKZF3 | 9906_186 | 7 | Frameshift | ----- | CCCCC | R91fs | — |
JAK3 | 9906_012 | 7 | Missense | A | G | S789P | COSMIC |
MYBL2 | 9906_229 | 1 | Missense | G | A | G211S | — |
NR3C1 | 9906_108 | 7 | Frameshift | - | C | S114fs | — |
NR3C2 | 9906_046 | 2 | Missense | G | A | R80W | — |
RB1 | 9906_086 | 3 | Frameshift | - | C | A147fs | — |
SGK269 | 9906_097 | 1 | Frameshift | C | - | V73fs | — |
SLC25A6 | 9906_133 | 6 | Frameshift | C | - | M282fs | — |
TCF12 | 9906_082 | 7 | Missense | C | T | S422F | — |
TRIM13 | 9906_214 | 7 | Missense | G | A | R38K | — |
Gene . | Sample . | Class . | Reference allele . | Mutant allele . | AA change . | Known mutation . | |
---|---|---|---|---|---|---|---|
ID . | R group . | ||||||
BLNK | 9906_099 | 7 | Missense | G | T | H431N | — |
BRAF | 9906_221 | 3 | Missense | C | T | G30D | — |
CTCF | 9906_003 | 2 | Missense | G | A | R377H | — |
IKZF3 | 9906_186 | 7 | Frameshift | ----- | CCCCC | R91fs | — |
JAK3 | 9906_012 | 7 | Missense | A | G | S789P | COSMIC |
MYBL2 | 9906_229 | 1 | Missense | G | A | G211S | — |
NR3C1 | 9906_108 | 7 | Frameshift | - | C | S114fs | — |
NR3C2 | 9906_046 | 2 | Missense | G | A | R80W | — |
RB1 | 9906_086 | 3 | Frameshift | - | C | A147fs | — |
SGK269 | 9906_097 | 1 | Frameshift | C | - | V73fs | — |
SLC25A6 | 9906_133 | 6 | Frameshift | C | - | M282fs | — |
TCF12 | 9906_082 | 7 | Missense | C | T | S422F | — |
TRIM13 | 9906_214 | 7 | Missense | G | A | R38K | — |
Selected singleton mutations newly identified in this study. A full list of mutations is provided in supplemental Table 3.