Table 1

Genomic loci captured and analyzed by the Karyogene platform

I. Coding mutations in 49 genes
Gene IDChromosomePosition (Mb)*Gene IDChromosomePosition (Mb)*
MSTP9117.1WT11132.4
NRAS1115.2MLL11118.3
DNMT3A225.5CBL11119.1
DDX182118.5ETV61211.8
SF3B12198.2KRAS1225.4
IDH12209.1PTPN1112112.9
CBLB3105.3FLT31328.6
GATA23128.1DIS31373.3
MUC43195.4IDH21590.6
KIT455.5CREBBP163.7
TET24106.1TP53177.6
DDX4555NF11729.4
CSF1R5149.4SRSF21774.7
NPM15170.8MUC16198.9
DAXX633.2CEBPA1933.8
ZAN7100.3ASXL12030.9
EZH27148.5PTPRT2040.7
CSMD182.8RUNX12136.1
RAD218117.8U2AF12144.5
JAK2949.8BCORX39.9
PRUNE2979.2KDM6AX44.7
WAC1028.8SMC1AX53.4
PTEN1089.6STAG2X123.1
SMC310112.3PHF6X133.5
NUP98113.7
II. Chromosomal rearrangementsIII. Copy number and zygosity changes
PML-RARAt(15:17)Genome-wide polymorphic SNPs (n = 9111) with
CBFB-MYH11inv(16)MAF 0.40 to 0.45 in 3 continental cohorts
RUNX1-RUNXT1t(8;21)
MLL fusions11q23 rearrangements
  • * CRCh37/hg19.