Figure S1 Recurrently Mutated Genes and Comparison to TCGA Cohort

80 TCGA CN-AML DKTK Diagnosis DKTK Relapse 70

30 Mutation frequency (%) frequency Mutation 20

Figure S1 Recurrently mutated genes and comparison to TCGA cohort.

40 Lost Gained Stable 35

15 Number of mutations of Number 10

Figure S2 Stabililty of recurrently mutated genes over disease course. CN-001 CN-002 100 100

90 90 Blast count Blast count 80 Stable mutations 80 Stable mutations Gained at relapse Gained at relapse 70 Lost at relapse 70 Lost at relapse 60% 60 60 KCND1 SEZ6L2 SLC39A4 50 PTPRB 50 SLC26A4 NSD1 RAD21 PHF12 IFT74 PCYT1BLRRC4C 40 PREX2 40 ZNF552 CD164 HMGXB4 34% KSR2 30% AGAP2 30 PTPN11 30 RASGRF2 25%

IDH2 NHS Variant allele frequency frequency (VAF) allele Variant Variant allele frequency frequency (VAF) allele Variant DNMT3A HR 20 20

10 10 IFT122 SLC41A2 0 0 Diagnosis Relapse Diagnosis Relapse Routine markers: FLT3-ITD - - Routine markers: FLT3-ITD - + NPM1mut + + NPM1mut + +

CN-003 CN-004 100 100 ZRSR2

90 90 Blast count Blast count 80 Stable mutations 80 77% Stable mutations 70% Gained at relapse Gained at relapse 70 65% Lost at relapse 70 Lost at relapse

60 60

OXER1 50 50 TCF20 KIF25 ZCCHC13 SF3B1 TTC4 IDH2 DNMT3A STAT5A NUP133 FBXL7 MRTO4 40 ACO2 PTPN11 MMP15 40 PRICKLE3 SF3B1 PRPS2 MYD88 SCAF1 32% NFE2 SHANK1

30 KLK10 30

Variant allele frequency frequency (VAF) allele Variant frequency (VAF) allele Variant

20 20

10 10

0 0 Diagnosis Relapse Diagnosis Relapse Routine markers: FLT3-ITD - - Routine markers: FLT3-ITD - - NPM1mut + + NPM1mut + +

CN-005 CN-006 100 100 91% 89% 90 90

80% Blast count Blast count 80 Stable mutations 80 Stable mutations Gained at relapse Gained at relapse 70 Lost at relapse 70 Lost at relapse

60 60 57%

KCNN3 IDH2 PRLR 50 FLT3 50 ELANE PAK3 DNMT3A EPHA7 CCDC147 UCHL1 LIX1 MMP15 NCKAP5 DRD3 FURIN ITGA4 40 40 KCNQ3 APOH RBL1 IDH1 VEZT SYTL2

30 30 IGSF1 Variant allele frequency frequency (VAF) allele Variant Variant allele frequency frequency (VAF) allele Variant RBM5 GLIS3 20 20

10 10

0 0 Diagnosis Relapse Diagnosis Relapse Routine markers: FLT3-ITD - - Routine markers: FLT3-ITD + + NPM1mut + + NPM1mut + +

Figure S3 Variant allele frequency plots from diagnosis to relapse for each individual patient. CN-007 CN-008 100 100 92% 90 90 Blast count Blast count 78% 80 Stable mutations 80 Stable mutations Gained at relapse Gained at relapse 70 Lost at relapse 70 65% Lost at relapse

60 60

50 50 MOCOS FAT4 DNMT3A GABRA6 CD96 40% IDH1 40 DNMT3A 40 TMEM132C THSD7B

30 30 Variant allele frequency frequency (VAF) allele Variant Variant allele frequency frequency (VAF) allele Variant GATA2 SERPINA6 20 HECW1 20

SCRIB 10 10

0 0 Diagnosis Relapse Diagnosis Relapse Routine markers: FLT3-ITD + + Routine markers: FLT3-ITD + + NPM1mut + + NPM1mut + +

CN-010 CN-012 100 100 94% SMC1A 94% 88% 90 90 RUNX1 Blast count PIR Blast count 80 Stable mutations 80 Stable mutations Gained at relapse Gained at relapse 70 Lost at relapse 70 Lost at relapse

60 60 IDH2 CRTAM 50 50 CACNG3 IDH2 TARBP2 SRSF2 NLRP8 CHRNA4 TAF1L DRD5 MYH7 GPR126 40 ATP8B2 40 ZSCAN29 RERE PITPNM1 DRD5

30 ASXL1 26% 30

Variant allele frequency frequency (VAF) allele Variant frequency (VAF) allele Variant

20 20 ABCA12

10 10

0 0 Diagnosis Relapse Diagnosis Relapse Routine markers: FLT3-ITD + + Routine markers: FLT3-ITD + + NPM1mut - - NPM1mut - -

CN-013 CN-014 100 100

90 90 Blast count Blast count 80 77% Stable mutations 80 Stable mutations Gained at relapse Gained at relapse 70 Lost at relapse 70 65% Lost at relapse 63% FBP1

60 60 55% FKBP11 GTF2IRD1 GPR133 50 50 WFDC11 GKN1 HUNK DNMT3A HNRNPLL 40 MYO1H 40 SF3A2 HIC1

30 30

Variant allele frequency frequency (VAF) allele Variant frequency (VAF) allele Variant

20 20

10 10 MYC 0 0 Diagnosis Relapse Diagnosis Relapse Routine markers: FLT3-ITD + + Routine markers: FLT3-ITD + + NPM1mut - - NPM1mut - +-

Figure S3 (continued) CN-015 CN-016 100 100

90 90

80% Blast count Blast count 80 Stable mutations 80 Stable mutations Gained at relapse Gained at relapse 70 Lost at relapse 70 Lost at relapse

60 60 CNTNAP2 ZNF407 KLHL22 ZSCAN12DNMT3A 50 WBSCR17 50 RANGRFKLHL29 TMEM8B ITGAL 40 MPHOSPH6 40 LPAR6 30%

30 FZD3 SLC26A6 30 25% Variant allele frequency frequency (VAF) allele Variant Variant allele frequency frequency (VAF) allele Variant SIAH1 SIX4 20 20 15% SF3B1

RUNX1 10 10 MAP3K9

0 0 Diagnosis Relapse Diagnosis Relapse Routine markers: FLT3-ITD - - Routine markers: FLT3-ITD - - NPM1mut + + NPM1mut - -

CN-017 CN-019 100 100

90% 90 90 85% Blast count Blast count 80 Stable mutations 80 Stable mutations Gained at relapse Gained at relapse 69% 70 Lost at relapse 70 Lost at relapse

60 56% 60

HNRNPK EIF3D WT1 STK11IP 50 50 ARHGEF33 ARHGEF7 NFKBIL1 NT5C1B RUNX1 WNK3 CACNA1E SALL3 ASXL1 TJP1 CNTNAP2 CHD4 KDM6A 40 NGLY1 40 ALKBH8 KCNU1VPS18 SLC27A6 FLT3 RUNX1 WT1 30 NRAS 30

SOS1

Variant allele frequency frequency (VAF) allele Variant frequency (VAF) allele Variant

20 20 SLC25A14

10 10

0 0 Diagnosis Relapse Diagnosis Relapse Routine markers: FLT3-ITD - - Routine markers: FLT3-ITD - + NPM1mut - - NPM1mut - -

CN-020 CN-021 100 100

90 90 BCORL1 86% 81% Blast count 81% BCOR Blast count 80 Stable mutations 80 Stable mutations Gained at relapse Gained at relapse 70 Lost at relapse 70 Lost at relapse 60% 60 60 PLCD1

SLC22A1 50 50 SYNRG IDH1 MAGI2 DNMT3A RAC2 ELAVL2 PCDHA12 PPP6R2 EZH2 RCN1 40 40 NRAS CASP2 RUNX1 UNC5C RUNX1 FREM1 ATP6V0D2 SMARCD2 30 30

DNMT3A KDM2A SLFN11 Variant allele frequency frequency (VAF) allele Variant Variant allele frequency frequency (VAF) allele Variant ZEB2 FAT4 WT1 20 20

10 10

0 0 Diagnosis Relapse Diagnosis Relapse Routine markers: FLT3-ITD + + Routine markers: FLT3-ITD - - NPM1mut + + NPM1mut - -

Figure S3 (continued) CN-022 CN-023 100 100 91% 90 87% 90 Blast count Blast count 78% 80 Stable mutations 80 Stable mutations Gained at relapse Gained at relapse 70 Lost at relapse 70 Lost at relapse

60 60

TET2 50 AKR7A3 50 TET2 PTPRN2 WT1 DNMT3A CDX4 DNMT3A PCDHB13 40 TTC22 TET2 40 PSD4 ARID2 CGNL1 KIF1C 31%

30 TRPC4AP 30 Variant allele frequency frequency (VAF) allele Variant WT1 frequency (VAF) allele Variant WWC3 RTN2 GPR143 20 TGDS 20

10 10

0 0 Diagnosis Relapse Diagnosis Relapse Routine markers: FLT3-ITD + + Routine markers: FLT3-ITD + + NPM1mut - - NPM1mut + +

CN-024 CN-025 100 100 93% KDM6A 90% 90 90 84% Blast count Blast count 80 Stable mutations 80 Stable mutations

Gained at relapse TP53 Gained at relapse 70 Lost at relapse 70 Lost at relapse

60 60 CBL TNFAIP2 DNMT3A ARHGEF12 GPR158 50% 50 KIF2B GRID2 50 SF3B1 IFT140 ZNF266 ASB1 40 40 HDLBP TRIM24 ZNF189 RREB1 HUNK NCKAP5L DSC1 SETD2 PHTF1 DIDO1 30 30 EML5 TCTN1 OGT

IDH1 Variant allele frequency frequency (VAF) allele Variant Variant allele frequency frequency (VAF) allele Variant MTR TARBP2 20 GRIA2 20

10 10 EDEM1 FAM186A

0 0 Diagnosis Relapse Diagnosis Relapse Routine markers: FLT3-ITD + + Routine markers: FLT3-ITD - - NPM1mut + + NPM1mut + +

CN-026 CN-027 100 100

90% CBFB 90 90 Blast count Blast count 80 Stable mutations 80 Stable mutations 74% 73% Gained at relapse Gained at relapse 70 Lost at relapse 70 Lost at relapse

60 60 ACLY NLRP6 HSD3B2 50 DNMT3A 50 LIPE PRKCB CNTNAP4 SLC19A2 CHST8 BCORL1 PPIP5K2 SIGLEC10 40 DHX32 40 EZH2 TEX13A NRF1

30 30 FLT3 ZNF462

24% Variant allele frequency frequency (VAF) allele Variant Variant allele frequency frequency (VAF) allele Variant FLT3 SMC3 20 20 SATL1 10 PTPN11 10

0 0 Diagnosis Relapse Diagnosis Relapse Routine markers: FLT3-ITD - + Routine markers: FLT3-ITD - - NPM1mut + + NPM1mut - -

Figure S3 (continued) CN-032 CN-033 100 100

90 85% 90 86% Blast count Blast count 80 Stable mutations 80 Stable mutations Gained at relapse Gained at relapse 70 Lost at relapse 70 Lost at relapse FAM186A 60 60

50 50 VWF SORCS3 DNMT3A MEGF11 KCNT1 CCRN4L 40 DNMT3A ANK1 40 HIST1H2BD TET2 TBL1XR1 31% ERC2 EPS8L1 TEAD4 30 TSPEAR 30

POM121L2 WAC Variant allele frequency frequency (VAF) allele Variant Variant allele frequency frequency (VAF) allele Variant FLT3 20 20

10 10

0 0 Diagnosis Relapse Diagnosis Relapse Routine markers: FLT3-ITD + + Routine markers: FLT3-ITD - + NPM1mut + + NPM1mut + +

CN-034 CN-035 100 100

90 90 Blast count Blast count 80 Stable mutations 80 Stable mutations Gained at relapse Gained at relapse 70 Lost at relapse 70 Lost at relapse

60 60

50 47% 50 TAF7L SPOCK1 DNMT3A SYNPO 40 40 35% DRD1 SEMA5A 33% TBC1D29 IGDCC3 30 30 TAOK2

TPR

Variant allele frequency frequency (VAF) allele Variant frequency (VAF) allele Variant

20 20 CDH16 10 10 JAG2 0 0 Diagnosis Relapse Diagnosis Relapse Routine markers: FLT3-ITD + + Routine markers: FLT3-ITD + + NPM1mut - - NPM1mut + +

CN-036 CN-037 100 100

90 90 Blast count 82% Blast count 80 Stable mutations 80 Stable mutations Gained at relapse Gained at relapse 70 Lost at relapse 70 Lost at relapse

60 57% 60

50 COPG1 50 PAK1 CD47 CCDC91 BAIAP2 DNMT3A GLRA3 TIE1 40 NSUN4 NRAS 40 MYH13 PTPN11BCOR IDH1 34% ARHGAP12 PIAS2 MGAT4C NRAS 30 NF1 30

23%

Variant allele frequency frequency (VAF) allele Variant frequency (VAF) allele Variant DNMT3A 20 20

10 10

0 0 Diagnosis Relapse Diagnosis Relapse Routine markers: FLT3-ITD - - Routine markers: FLT3-ITD - + NPM1mut + + NPM1mut + +

Figure S3 (continued) CN-038 CN-039 100 100

90 86% 90 STAG2 Blast count 80% Blast count 80 NHS Stable mutations 80 Stable mutations Gained at relapse Gained at relapse GSE1 70 70 FLT3 Lost at relapse Lost at relapse

60 60 PLXNB1 TMEM180 IDH2 50 SPATC1 MGAM DLGAP3 50 DNMT3A TET1 CYC1 DEFB113 ADCY2 STAT5A PRKAG2 INTU 40 PROX1 F2 40 FAT2 ZCCHC2 NOV CEBPZ

30 PCSK5 30 Variant allele frequency frequency (VAF) allele Variant Variant allele frequency frequency (VAF) allele Variant 22% 20 20 MC4R ANO3 10 10 PODXL

0 0 Diagnosis Relapse Diagnosis Relapse Routine markers: FLT3-ITD - - Routine markers: FLT3-ITD + + NPM1mut + + NPM1mut + +

CN-040 CN-041 100 100 91% 90 90 87% 84% 85% Blast count Blast count 80 Stable mutations 80 Stable mutations Gained at relapse Gained at relapse 70 Lost at relapse 70 Lost at relapse

60 60

NLRP4 MTX2 50 DNMT3A 50 CTU1 CPM PLA2G7 NFE2 SGK1 SOAT2 HYAL1 TMC5 NRAS H3F3A VSIG8 KLHL22 MROH2B 40 ATP2B2 40 CLEC12A KPNB1 AZI1 GRIN3B NRAS RABGGTA SLC16A3 TAF4B

30 IDH1 30 Variant allele frequency frequency (VAF) allele Variant Variant allele frequency frequency (VAF) allele Variant SRSF2 20 20

10 10

0 0 Diagnosis Relapse Diagnosis Relapse Routine markers: FLT3-ITD - - Routine markers: FLT3-ITD + + NPM1mut + + NPM1mut + +

CN-042 CN-043 100 100

90 85% 90 Blast count Blast count 80 Stable mutations 80 Stable mutations Gained at relapse Gained at relapse 69% 70 Lost at relapse 70 Lost at relapse 62% 60 60

TET2 50 ASXL1 50 SRSF2 ZNF229 TET2 40 40 EYA2 ATP8B2 PTPN11 LMO7ZMAT1 LRP5 30% DNMT3A

30 30 Variant allele frequency frequency (VAF) allele Variant Variant allele frequency frequency (VAF) allele Variant MED12 BRAF 20 20 ZNF205 ABCA2

10 10

0 0 Diagnosis Relapse Diagnosis Relapse Routine markers: FLT3-ITD - - Routine markers: FLT3-ITD - - NPM1mut + + NPM1mut + +

Figure S3 (continued) CN-044 CN-046 100 100

90 90 Blast count Blast count 78% 80 Stable mutations 80 Stable mutations Gained at relapse Gained at relapse 68% 70 Lost at relapse 70 Lost at relapse

60 60 TMEM45B DMC1 C7 50 50 GABRB1 47% NFIX DNMT3A WT1 41% PTPLAD1 DNMT3A 40 SLC19A3 40 RIMBP2 USH1C TUBGCP5 WT1RUNX1 KPNB1

30 DNMT3A 30 DHDDS

Variant allele frequency frequency (VAF) allele Variant frequency (VAF) allele Variant

20 NAV3 20 FYB NTN4

ADAMTSL1 NRAS 10 NFIX 10

0 0 Diagnosis Relapse Diagnosis Relapse Routine markers: FLT3-ITD + - Routine markers: FLT3-ITD + + NPM1mut - - NPM1mut + +

CN-048 CN-049 100 100

90 90 Blast count Blast count 80 Stable mutations 80 Stable mutations Gained at relapse Gained at relapse 70 BCOR Lost at relapse 70 Lost at relapse

60 60

AP4E1 50 50 WT1 SLC2A13 40% 40% RUNX1 LRP6 40 SEL1L2 40 FBXL2 ZNF814 U2AF1 NALCN STK11IP 27% MADD 28% 30 BCORL1 30

TCERG1L Variant allele frequency frequency (VAF) allele Variant Variant allele frequency frequency (VAF) allele Variant BCOR 20 EZH2 20 ASXL1 WT1 10 10

0 0 Diagnosis Relapse Diagnosis Relapse Routine markers: FLT3-ITD - - Routine markers: FLT3-ITD + + NPM1mut + - NPM1mut - -

CN-056 CN-057 100 100

90 90 Blast count Blast count 80 76% Stable mutations 80 Stable mutations Gained at relapse Gained at relapse 70 Lost at relapse 70 Lost at relapse 63% 58% 60 60 ATP8B1 MB21D1 MRPL27 50 50 BCORCDK18 MYH1 FADS2 GRIN2A DPP4 40 36% 40 LZTR1 TNRC6C VSIG2 HKDC1 FNDC1 30 30 NXN MMP3

CACNA1C

Variant allele frequency frequency (VAF) allele Variant frequency (VAF) allele Variant

20 20

10 10

0 0 Diagnosis Relapse Diagnosis Relapse Routine markers: FLT3-ITD + + Routine markers: FLT3-ITD + + NPM1mut - - NPM1mut + +

Figure S3 (continued) KE123 KE456 100 100

90% 88% 90 90 83% Blast count Blast count 80 Stable mutations 80 Stable mutations Gained at relapse Gained at relapse 70 Lost at relapse 70 Lost at relapse

60 60

DNMT3A 50 TEX14 50 NCSTN IDH2 KIF2C 43% CHGB DNMT3AMGAT1 DCAKD 40 UNC13A 40 UGT2B4

GPR17

30 30

Variant allele frequency frequency (VAF) allele Variant frequency (VAF) allele Variant

20 20

10 10

0 0 Diagnosis Relapse Diagnosis Relapse Routine markers: FLT3-ITD + + Routine markers: FLT3-ITD - + NPM1mut + + NPM1mut + +

B-P4 B-P5 100 100

90% 90% RUNX1 90 90 Blast count Blast count 80% STAG2 80 Stable mutations 80 Stable mutations Gained at relapse Gained at relapse

70 Lost at relapse 70 Lost at relapse (VAF)

60 60 MGA C6 ADRA2C TIMM44 SRSF2SAMD9 SEPT4 PTPN14 QRFPR 50 SALL3 SLC7A2 50 DPF2 MYD88

frequency FABP7 FAM186ASYT16 YLPM1 KIF26B CBL ATP1A3 KLF5 40% 40 ZNF259 40 PTX4 FLT3 FGD5 ABCG5 FUK SPSB1PNPLA7 LRRC4C FMNL3 HPGDS PLK3 ABCA4 NUP160 EFNB3 GSG1L NOVA1 NDST2 30 30 YEATS2 NFIB SPNS1 APOBR

MMP19HEATR4 Variant allele frequency frequency (VAF) allele Variant Variant allele Variant ZFP57 CNTN2NOTUM IL17REL PRF1 DDR2NUP160 DNMBP ATRNL1 20 20 ASS1 BIRC6 FREM3 GRIN2A GIT2 CACNA1I TTLL9 KIF5A CDCP1 CERS4 PHLPP1 ZNF784 10 10

0 0 Diagnosis Relapse Diagnosis Relapse Routine markers: FLT3-ITD + + Routine markers: FLT3-ITD - - NPM1mut + + NPM1mut - -

B-P7 B-P8 100 99% 100 DNMT3A 90 90

Blast count 80% Blast count 80 Stable mutations 80 Stable mutations Gained at relapse Gained at relapse

70 Lost at relapse 70 Lost at relapse (VAF) 60% 60 UTY 60

MTHFS 50% 50 HCN1 50 frequency ESPNL BNC1 WT1 40 ACCSL WDR36 40 C8B DRD1

30 IDH1 30 Variant allele frequency frequency (VAF) allele Variant Variant allele Variant CCDC122 20 20 RUNX1 10 10

0 0 Diagnosis Relapse Diagnosis Relapse Routine markers: FLT3-ITD + + Routine markers: FLT3-ITD + + NPM1mut + + NPM1mut - -

Figure S3 (continued) B-P13 B-P22

100 95% 100 90% 90 90 Blast count Blast count 80 Stable mutations 80 Stable mutations Gained at relapse Gained at relapse 70 Lost at relapse 70 Lost at relapse 60% 60 60 STAG2

TET2 50 50 DNMT3A TET2 SRSF2 40 40

30 FLT3 30

Variant allele frequency frequency (VAF) allele Variant frequency (VAF) allele Variant

20 KMT2D 20

10 10 STAG2

0 0 Diagnosis Relapse Diagnosis Relapse Routine markers: FLT3-ITD - - Routine markers: FLT3-ITD - - NPM1mut + + NPM1mut + -

Figure S3 (continued) Stable (DNMT3A) Stable + gain (WT1)

100 100

90 90

(%) (%)

80 80 70 70

60 60 frequency frequency 50 50 40 40 30 30

20 20 Variant alleleVariant Variant alleleVariant 10 10 0 0 Diagnosis Relapse Diagnosis Relapse

Stable + loss (PTPN11) ‚Mixed‘ (NRAS)

100 100

90 90

(%) (%)

80 70 70

60 60 frequency 50 frequency 50 40 40 30 30

20 20 Variant alleleVariant 10 alleleVariant 10 0 0 Diagnosis Relapse Diagnosis Relapse

Figure S4 Mutation patterns of individual genes. Lines represent mutations in individual patients. Figure S5 Detection of the pre-existence of gained variants at initial diagnosis. * * * * * * * * * Activated signaling

* * * * DNA methylation

Spliceosome

* Myeloid TF

* * * Chromatin modifiers

* * Tumor suppressor

Cohesin complex

Single mutation in pathway Multiple mutations in a single pathway Stable Gained Lost Gained and lost * Additional stable mutation(s)

Figure S6 Mutations in AML-associated functional pathways. Figure S7 Deletion of exons 3-10 of the KDM6A gene in the MM-6 cell line. The sister cell line MM-1 is not affected. Deletions were detected by quantitative MLPA analysis and the peak ratio for each KDM6A exon specific probe is shown. Graph represents the results from two independent experiments.

Figure S8 H3K27 methylation in the AML cell lines MM-1 and MM-6. The global mono-, di- and tri- methylation of H3K27 in MM-1 and MM-6 was analyzed by Western blot and normalized to H3. The median of three independent experiments is shown. P-Values were calculated using a two-tailed, unpaired Student’s t-test. 1400 ** Ara-C Daunorubicin 1200 AC220

1000

] 800

[

5 C I 600

400

n.s. 200 n.s.

0 MM-1 MM-6 MM-1 MM-6 MM-1 MM-6

Figure S9 The MM-6 cell line is resistant to cytarabine (Ara-C) but not to Daunorubicin or AC220. Error bars indicate mean ± s.d. of at least three independent experiments. **P<0.01; unpaired, two- tailed Student’s t-test; n.s., not significant .

AMLCG-99 trial (GSE37642)

Figure S10 A Correlation of KDM6A expression (low≤25th percentile vs. high>75th percentile) with clinical outcome according to gender in the AMLCG-99 trial (NCT00266136). HOVON (GSE6891)

Figure S10 B Correlation of KDM6A expression (low≤25th percentile vs. high>75th percentile) with clinical outcome according to gender using publicly available data from the HOVON study group. TCGA (RNA-Seq)

Figure S10 C Correlation of KDM6A expression (low<50th percentile vs. high≥50th percentile) with clinical outcome according to gender using publicly available RNA-Seq data from TCGA (www.cbioportal.org). The analysis was limited to patients who received intensive treatment (7+3 alone or in combination with other drugs). KDM6A expression in CN-AML (AMLCG-99)

males females

KDM6A expression in CN-AML (HOVON)

males females

KDM6A expression in CN-AML (TCGA)

males females

Figure S10 D Gender-specific expression of KDM6A in CN-AML evaluated in the study cohorts AMLCG-99 (top panel), HOVON (middle panel) and TCGA (bottom panel). Figure S11 Proportion of transversions from diagnosis to relapse. Transversion frequencies are shown for lost (blue), stable (orange) and gained (red) mutations. Dots represent individual patients. Figure S12 Median coverage in targeted sequencing of persistent and non-persistent DNMT3A variant positions at complete remission (CR). Figure S13 Clinical outcome according to mutation persistence at remission.