Table 2 Loss-of-function variants detected in case and control cohorts

ADAM29

c.2020A > T

p.Lys674Ter

–

1

0

Stop-gained

0

0

CASP8

c.379C > T

p.Arg127Ter

–

1

0

Stop-gained

0

0

CDKN2A

c.225_243delCGCCACTCTCACCCGACCC

p.Ala76CysfsTer64

–

1

0

Frame shift

0

0

CDKN2B

c.149_150delCG

p.Ala50AspfsTer36

–

0

1

Frame shift

0

< 0.0001

DCLRE1B

c.189 + 1G > C

–

1

0

Splice donor

0

0

DCLRE1B

c.256G > T

p.Gly86Ter

–

0

1

Stop-gained

0

0

FTO

c.11delC

p.Pro5ArgfsTer13

–

1

0

Frame shift

0

0

LGR6

c.858-2A > C

–

1

0

Splice acceptor

< 0.0001

< 0.0001

MUS81

c.1314delC

p.Pro439LeufsTer6

–

1

0

Frame shift

0

0

MUS81

c.1062delC

p.Arg355GlyfsTer2

–

0

1

Frame shift

0

0

NFRKB

c.2149G > T

p.Glu717Ter

–

1

0

Stop-gained

0

0

NFRKB

c.794C > G

p.Ser265Ter

–

0

1

Stop-gained

0

< 0.0001

NRIP1

c.40_41insT

p.Asp14ValfsTer25

–

1

0

Frame shift

0

0

NRIP1

c.2750C > G

p.Ser917Ter

–

1

0

Stop-gained

0

0

NRIP1

c.1968dupT

p.Gly657TrpfsTer5

–

1

0

Frame shift

0

0

PDE4D

c.2400_2410dupTGTCATAGATG

p.Asp804ValfsTer3

–

1

0

Frame shift

0

0

RAD51B

c.139C > T

p.Arg47Ter

rs200355697

2

0

Stop-gained

0

0.0001

SETMAR

c.823_826delAAAG

p.Glu276GlyfsTer2

–

1

0

Frame shift

0

< 0.0001

SETMAR

c.706C > T

p.Arg236Ter

–

0

1

Stop-gained

0

0.0001

SETMAR

c.1635C > G

p.Tyr545Ter

–

0

1

Stop-gained

0

0

SLC4A7

c.1663G > T

p.Gly555Ter

–

1

0

Stop-gained

0

0

SNX32

c.1111C > T

p.Arg371Ter

–

1

0

Stop-gained

0

< 0.0001

SNX32

c.825 + 2 T > G

–

1

0

Splice donor

0

0

TCF7L2

c.1804_1805insAAT

p.Glu602_Glu603insTer

–

0

1

Stop-gained

0

0

TET2

c.1085_1086insT

p.Pro363SerfsTer6

–

1

0

Frame shift

0

0

TET2

c.2072delC

p.Thr691MetfsTer9

–

1

0

Frame shift

0

0

TET2

c.3646C > T

p.Arg1216Ter

–

1

0

Stop-gained

0

0

TET2

c.4361_4362insG

p.Arg1455GlnfsTer23

–

1

0

Frame shift

0

0

TET2

c.3812_3820delGCGCCTGTC

p.Cys1271_Gln1274delinsTer

–

1

0

Stop-gained

0

0

TET2

c.832C > T

p.Gln278Ter

–

0

1

Stop-gained

0

0

TET2

c.1458delC

p.Asn486LysfsTer11

–

0

1

Frame shift

0

0

TPK1

c.185 + 1G > A

–

0

1

Splice donor

0

0

USHBP1

c.1220 + 1G > T

rs144791770

1

0

Splice donor

0.0002

0.0001

USHBP1

c.258dupA

p.Val87SerfsTer103

–

0

1

Frame shift

0.0001

< 0.0001

ZNF226

c.1229_1230delAA

p.Arg411SerfsTer11

–

1

0

Frame shift

0

0.0001

ZNF226

c.2239C > T

p.Arg747Ter

–

1

0

Stop-gained

0

0

ZNF226

c.2380G > T

p.Glu794Ter

rs201830106

0

1

Stop-gained

0.0007

0.0003

ZNF226

c.582delT

p.Asn194LysfsTer41

–

0

1

Frame shift

0

0