Gene Name | HGNC ID | COSMIC_MutID | Primary site | Primary histology | AA-Mutation | Mutation Type | Genomic Position | FATHMM prediction | FATHMM score | Literature evidence |
PTPRH | 9672 | COSM142789, | skin | malignant_melanoma | p.P990L | Substitution - Missense | 19:55185595-55185595, | PATHOGENIC | 0.9698 | 19074898 |
PTPRH | 9672 | COSM142790, | skin | malignant_melanoma | p.Q1074* | Substitution - Nonsense | 19:55181882-55181882, | PATHOGENIC | 0.87731 | 19074898 |
PTPRH | 9672 | COSM50471, | large_intestine | carcinoma | p.T168I | Substitution - Missense | 19:55205442-55205442, | NEUTRAL | 0.15003 | 17932254 |
PTPRH | 9672 | COSM142788, | skin | malignant_melanoma | p.G153E | Substitution - Missense | 19:55205487-55205487, | NEUTRAL | 0.12153 | 19074898 |
PTPRH | 9672 | COSM109503, | skin | malignant_melanoma | p.S365F | Substitution - Missense | 19:55202115-55202115, | NEUTRAL | 0.07132 | 19074898 |
PTPRH | 9672 | COSM142787, | skin | malignant_melanoma | p.G144D | Substitution - Missense | 19:55205514-55205514, | NEUTRAL | 0.00521 | 19074898 |