Table 3 Summary of patient and mutational status and OR for patients with pathogenic germline mutations in this study

1

28

MALE

BLCA

WHITE

ATM

p.E1978*

Pathogenic

0.00004379(11/251182)

111.38

24.61 to 504.09

1.33405E−23

2

26

FEMALE

BLCA

BLACK OR AFRICAN AMERICAN

ATM

p.M1I

Pathogenic

0.00000398(1/251388)

611.65

38.19 to 9795.74

9.95953E−18

3

46

FEMALE

BLCA

WHITE

ATM

p.R2832C

Pathogenic

0.00003184(8/251268)

76.42

9.54 to 612.38

7.13507E−05

4

60

FEMALE

BLCA

WHITE

BLM

p.G952V

Pathogenic

0.00000398(1/251446)

611.79

38.20 to 9798.00

9.95953E−18

5

37

MALE

BLCA

WHITE

BLM

p.R899*

Pathogenic

0.00006365(18/282794)

38.22

5.09 to 287.00

0.004715125

6

60

MALE

BLCA

WHITE

BRCA1

p.S819X

Pathogenic

0.00001196(3/250740)

203.36

21.11 to 1959.09

1.81953E−09

7

49

MALE

BLCA

ASIAN

BRCA2

p.R2494*

Pathogenic

0.00003182(8/251440)

76.47

9.54 to 612.80

7.13507E−05

8

50

FEMALE

BLCA

WHITE

CHEK2

p.S471F

Pathogenic

0.00046420(131/282204)

15.79

5.01 to 49.81

2.63664E−07

9

58

FEMALE

BLCA

WHITE

CHEK2

p.S471F

Pathogenic

0.00046420(131/282204)

15.79

5.01 to 49.81

2.63664E−07

10

59

MALE

BLCA

WHITE

CHEK2

p.W93*

Pathogenic

0.00002388(6/251270)

101.89

12.24 to 848.24

5.9444E−06

11

43

MALE

BLCA

WHITE

FANCG

p.E105*

Pathogenic

0.00001425(4/280654)

170.71

19.04 to 1530.66

1.32534E−08

12

66

MALE

BLCA

WHITE

NBN

p.KQ233-234X

Pathogenic

0.00001999(5/250094)

121.70

14.19 to 1043.98

1.08043E−06

13

63

FEMALE

BLCA

WHITE

NF1

p.R1362*

Pathogenic

0.00000398(1/251344)

611.54

38.18 to 9794.02

9.95953E−18

14

53

FEMALE

BLCA

WHITE

PALB2

p.R753*

Pathogenic

0.00002386(6/251486)

101.98

12.25 to 848.97

5.9444E−06

15

65

MALE

BLCA

WHITE

RAD50

p.R1077*

Pathogenic

0.00002123(6/282600)

114.60

13.77 to 954.00

1.54259E−06

16

40

MALE

BLCA

WHITE

SERPINA1

p.Y184*

Pathogenic

0.00017670(50/282896)

27.59

6.69 to 113.79

3.14159E−07

17

48

MALE

BLCA

WHITE

VHL

p.L188V

Pathogenic

0.00002121(6/282824)

114.69

13.78 to 954.76

1.54259E−06

18

52

MALE

KICH

WHITE

CHEK2

p.S471F

Pathogenic

0.00046420(131/282204)

102.53

31.80 to 330.64

2.62808E−43

19

11

FEMALE

KICH

WHITE

NF1

p.K1444E

Pathogenic

NA

NA

NA

NA

20

37

FEMALE

KIRC

WHITE

BAP1

p.Q684*

Pathogenic

0.00000398(1/251330)

1305.61

118.14 to 14,429.10

1.3624E−106

21

41

FEMALE

KIRC

BLACK OR AFRICAN AMERICAN

BAP1

p.Q684*

Pathogenic

0.00000398(1/251330)

1305.61

118.14 to 14,429.10

1.3624E−106

22

60

FEMALE

KIRC

WHITE

BLM

p.Q548*

Pathogenic

0.00016650(46/276228)

15.55

2.14 to 113.07

0.091089752

23

48

FEMALE

KIRC

WHITE

BRCA1

p.T1119

Pathogenic

0.00000400(1/250270)

648.37

40.48 to 10,384.92

1.16019E−18

24

55

MALE

KIRC

WHITE

FAH

p.P261L

Pathogenic

0.00015910(45/282876)

16.28

2.24 to 118.42

0.082722898

25

41

MALE

KIRC

WHITE

GJB2

p.KFIKG105-109X

Pathogenic

NA

NA

NA

NA

26

45

FEMALE

KIRC

WHITE

GJB2

p.Q57*

Pathogenic

0.00003187(9/282412)

81.29

10.27 to 643.20

3.73735E−05

27

47

FEMALE

KIRC

WHITE

MUTYH

p.R242H

Pathogenic

0.00008521(24/281670)

30.40

4.10 to 225.30

0.012249846

28

34

FEMALE

KIRC

BLACK OR AFRICAN AMERICAN

PMS2

p.LT731-732X

Pathogenic

NA

NA

NA

NA

29

29

MALE

KIRC

WHITE

TP53

p.H365Y

Pathogenic

NA

NA

NA

NA

30

23

FEMALE

KIRC

BLACK OR AFRICAN AMERICAN

VHL

p.C162F

Pathogenic

0.00000398(1/251440)

1306.18

118.19 to 14,435.42

1.3624E−106

31

38

FEMALE

KIRC

BLACK OR AFRICAN AMERICAN

VHL

p.C162F

Pathogenic

0.00000398(1/251440)

1306.18

118.19 to 14,435.42

1.3624E−106

32

50

FEMALE

KIRC

WHITE

VHL

p.R167W

Pathogenic

0.00000795(2/251448)

325.71

29.47 to 3599.59

5.93449E−13

33

29

FEMALE

KIRC

WHITE

XPC

p.V548X

Pathogenic

0.00002005(5/249358)

129.20

15.06 to 1108.48

5.01842E−07

34

33

MALE

KIRP

WHITE

ATM

p.R1875*

Pathogenic

0.00002002(5/249754)

173.44

20.20 to 1489.20

5.08026E−09

35

57

MALE

KIRP

WHITE

BRCA2

p.Q3066*

Pathogenic

NA

NA

NA

NA

36

47

MALE

KIRP

BLACK OR AFRICAN AMERICAN

FAH

p.G337S

Pathogenic

0.00007501(21/279946)

46.28

6.20 to 345.24

0.001643527

37

18

FEMALE

KIRP

BLACK OR AFRICAN AMERICAN

FH

p.S187*

Pathogenic

0.00000399(1/250648)

870.30

54.30 to 13,948.21

1.42543E−24

38

52

MALE

KIRP

WHITE

GJB2

p.E47*

Pathogenic

0.00000399(1/250772)

870.73

54.33 to 13,955.12

1.42543E−24

39

38

MALE

KIRP

WHITE

MET

p.H1112R

Pathogenic

0.00001203(3/249346)

871.83

175.22 to 4337.80

1.476E−195

40

35

MALE

KIRP

WHITE

MET

p.H1112R

Pathogenic

0.00001203(3/249346)

871.83

175.22 to 4337.80

1.476E−195

41

30

FEMALE

KIRP

WHITE

MET

p.H1112R

Pathogenic

0.00001203(3/249346)

871.83

175.22 to 4337.80

1.476E−195

42

37

MALE

KIRP

WHITE

MUTYH

p.E407GX

Pathogenic

0.00014170(40/282334)

49.18

11.83 to 204.46

3.90416E−12

43

57

MALE

KIRP

WHITE

MUTYH

p.E407GX

Pathogenic

0.00014170(40/282334)

49.18

11.83 to 204.46

3.90416E−12

44

62

MALE

KIRP

WHITE

PMS2

p.M1T

Pathogenic

0.00000400(1/250260)

868.95

54.22 to 13,926.62

1.48087E−24

45

43

MALE

KIRP

BLACK OR AFRICAN AMERICAN

RET

p.D631Y

Pathogenic

0.00000405(1/246932)

857.40

53.50 to 13,741.42

2.80654E−24

46

38

MALE

PRAD

[Unknown]

ATM

c.2921 + 1 N > A

Pathogenic

0.00002388(6/251304)

84.27

10.13 to 701.29

4.10188E−05

47

53

MALE

PRAD

WHITE

ATM

p.E1978*

Pathogenic

0.00004379(11/251182)

92.07

20.36 to 416.46

1.22898E−19

48

38

MALE

PRAD

[Unknown]

ATM

p.R3008C

Pathogenic

0.00001591(4/251428)

126.47

14.11 to 1133.57

1.08043E−06

49

51

MALE

PRAD

[Unknown]

ATM

p.R447*

Pathogenic

0.00000796(2/251290)

252.80

22.89 to 2792.61

2.47305E−10

50

49

MALE

PRAD

WHITE

BRCA1

p.Q1408*

Pathogenic

0.00000398(1/251400)

505.83

31.59 to 8098.72

6.97237E−15

51

38

MALE

PRAD

[Unknown]

BRCA1

p.R1772*

Pathogenic

0.00001414(4/282892)

142.30

15.88 to 1275.42

2.40779E−07

52

41

MALE

PRAD

[Unknown]

BRCA1

p.VN923-924X

Pathogenic

0.00000398(1/251024)

505.08

31.55 to 8086.61

7.07023E−15

53

40

MALE

PRAD

[Unknown]

BRIP1

p.V758VX

Pathogenic

0.00000796(2/251216)

252.73

22.88 to 2791.78

2.47305E−10

54

53

MALE

PRAD

[Unknown]

DKC1

p.S280R

Pathogenic

0.00027780(57/205151)

7.24

1.00 to 52.39

0.33671376

55

41

MALE

PRAD

[Unknown]

GALNT3

c.516-2A > T

Pathogenic

0.00003897(11/282266)

51.63

6.65 to 400.66

0.001068325

56

36

MALE

PRAD

[Unknown]

PALB2

p.P684X

Pathogenic

0.00000795(2/251460)

252.98

22.90 to 2794.49

2.47305E−10

57

44

MALE

PRAD

[Unknown]

PMS2

c.989-1G > T

Pathogenic

0.00000405(1/246764)

496.51

31.01 to 7949.38

1.18724E−14

58

41

MALE

PRAD

[Unknown]

RAD51C

p.R237*

Pathogenic

0.00001591(4/251374)

126.44

14.11 to 1133.32

1.08043E−06

59

44

MALE

PRAD

[Unknown]

SERPINA1

p.Y184*

Pathogenic

0.00017670(50/282896)

22.81

5.53 to 94.00

3.82838E−06

Overall

0.00345284(938/271661)

14.88

11.80 to 18.77

2.2E−16