Table 2 Gene mutations detected by NGS

BCOR

c.288_292delGGGCT

p.G97Rfs*87

frameshift

NM_001123385.1

EX4

0.44281

ASXL1

c.2485C > T

p.Q829*

nonsense

NM_015338.5

EX13E

0.5611

NCOR2

c.5469_5470insCGGC

p.S1824Rfs*194

frameshift

NM_001206654.1

EX38

0.047529

FAT3

c.4278G > T

p.R1426S

missense

NM_001008781.2

EX6

0.325153

CIITA

c.2029G > T

p.E677*

nonsense

NM_000246.3

EX11

0.357877

HGF

c.1520G > A

p.W507*

nonsense

NM_000601.4

EX13

0.26652

MGA

c.2922GCA[4 > 3]

p.Q974[8 > 7]

cds-del

NM_001164273.1

EX8

–

CIITA

c.1907C > T

p.T636M

missense

NM_000246.3

EX11

0.42402

LRP1B

c.4163G > A

p.R1388K

missense

NM_018557.2

EX25

–

BCORL1

c.1624G > A

p.D542N

missense

NM_021946.4

EX3

–

MGAM

c.160C > T

p.P54S

missense

NM_004668.2

EX3

–

MGAM

c.136C > T

p.P46S

missense

NM_004668.2

EX3

–

KRAS

c.183A > C

p.Q61H

missense

NM_033360.2

EX3

0.175824

DIS3

c.1982C > T

p.S661F

missense

NM_014953.3

EX16

0.125731

NF1

gain

NM_001042492.2

17q11.2

2.10

SUZ12

gain

NM_015355.2

17q11.2

2.07