Table 1. Coding mutations.
Gene | Gene impact | Protein location | Prediction of impact | Coordinates (hg19) |
---|---|---|---|---|
ALDH1A3 | Missense | T51I | SIFT, Condel | chr15: 101 425 524 snp C>T |
AP3M2 | Missense | H19N | Polyphen, SIFT, Condel | chr8: 42 012 260 snp C>A |
ASXL1 | Frameshift | E657fs | Damaging | chr20: 31 022 486 del G>- |
ATRIP | Missense | G21R | SIFT, Condel | chr3: 48 488 310 snp G>C |
DNAJB12 | Missense | L292V | Neutral | chr10: 74 098 021 snp G>C |
DNMT3A | Missense | G728D | Polyphen, SIFT, Condel | chr2: 25 463 310 snp C>T |
FAM193A | Frameshift | H303fs | Damaging | chr4: 2 648 428 ins ->T |
GRM5 | Nonsense | R351* | Damaging | chr11: 88 386 432 snp G>A |
HECTD3 | Missense | R14P | SIFT, Condel | chr1: 45 476 889 snp C>G |
JPH2 | Missense | V239M | Neutral | chr20: 42 788 712 snp C>T |
MAGI2 | Missense | R375Q | Condel | chr7: 77 807 386 snp C>T |
MORC1 | Missense | R597H | Neutral | chr3: 108 724 077 snp C>T |
NCALD | Missense | R181C | Polyphen, SIFT, Condel | chr8: 102 701 578 snp G>A |
PVRL1 | Missense | L360V | Neutral | chr11: 119 510 648 snp G>C |
SH3BP1 | Missense | T626P | Neutral | chr22: 38 051 466 snp A>C |
TBC1D8 | Missense | R144G | Neutral | chr2: 101 670 771 snp T>C |
TBKBP1 | Missense | K75T | Polyphen, SIFT, Condel | chr17: 45 773 702 snp A>C |
Somatic protein coding mutations.