Somatic mutations of patients 1 and 2 identified by exome sequencing and confirmed by capillary sequencing
| No. . | Gene . | Chromosome . | Position in chromosome . | Mut. type . | Variant base . | Reference base . | CD8 variant, (n)* . | CD8 reference, (n)† . | CD4 variant, (n)‡ . | CD4 reference, (n)§ . | Protein . | Somatic P|| . | GERP¶ . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | STAT5b | 17 | 40359659 | Missense | A | T | 30 | 43 | 0 | 99 | Y665F | 9.34 × 10−14 | 4.82 |
| BMPR2 | 2 | 203379664 | Missense | A | G | 42 | 39 | 1 | 113 | E195K | 7.10 × 10−19 | 5.57 | |
| 2 | STAT5b | 17 | 40359659 | Missense | A | T | 41 | 38 | 0 | 63 | Y665F | 5.98 × 10−14 | 4.82 |
| SGMS2 | 4 | 108820744 | Missense | T | C | 89 | 123 | 0 | 212 | R157C | 1.20 × 10−32 | 5.52 | |
| EBF3 | 10 | 131761204 | Splice-5 | G | A | 41 | 73 | 0 | 93 | NA | 4.42 × 10−13 | 4 |
| No. . | Gene . | Chromosome . | Position in chromosome . | Mut. type . | Variant base . | Reference base . | CD8 variant, (n)* . | CD8 reference, (n)† . | CD4 variant, (n)‡ . | CD4 reference, (n)§ . | Protein . | Somatic P|| . | GERP¶ . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | STAT5b | 17 | 40359659 | Missense | A | T | 30 | 43 | 0 | 99 | Y665F | 9.34 × 10−14 | 4.82 |
| BMPR2 | 2 | 203379664 | Missense | A | G | 42 | 39 | 1 | 113 | E195K | 7.10 × 10−19 | 5.57 | |
| 2 | STAT5b | 17 | 40359659 | Missense | A | T | 41 | 38 | 0 | 63 | Y665F | 5.98 × 10−14 | 4.82 |
| SGMS2 | 4 | 108820744 | Missense | T | C | 89 | 123 | 0 | 212 | R157C | 1.20 × 10−32 | 5.52 | |
| EBF3 | 10 | 131761204 | Splice-5 | G | A | 41 | 73 | 0 | 93 | NA | 4.42 × 10−13 | 4 |
C, cysteine; E, glutamic acid; F, phenylalanine; K, lysine; NA, not applicable; R, arginine; Y, tyrosine.
Exome sequencing reads supporting variant allele in tumor sample.
Exome sequencing reads supporting reference allele in tumor sample.
Exome sequencing reads supporting variant allele in control sample.
Exome sequencing reads supporting reference allele in control sample.
Somatic P value for somatic/loss of heterozygosity events.
Rejected-substitution score describing the conservation of the amino acid from the program GERP (34 mammalian species, range of −11.6 to 5.82, with 5.82 being the most conserved).