Table 1 Variants detected in three different tumor samples of the same patient. In the table are included only variants reported in whole GnomAD population (ALL) or European or Non-Finish population (NFE) with frequencies < 1%. Variants classified as benign in ClinVar database were removed from the report

BRCA2

missense_variant

NM_000059.3:c.978C > A

NP_000050.2:p.(Ser326Arg)

16.96

24.69

15.98

confirmed germline variant^a

ALL:0.090% - NFE:0.14%

FGF5

3_prime_UTR_variant

NM_004464.3:c.*1139 T > C

39.17

40.88

81.8

likely germline variant^b

ALL:0.89% - NFE:0.82%

FGFR2

missense_variant

NM_000141.4:c.170C > T

NP_000132.3:p.(Ser57Leu)

40.64

50

88.62

likely germline variant^b

ALL:0.45% - NFE:0.31%

STK11

synonymous_variant

NM_000455.4:c.945G > A

NM_000455.4:p.(Pro315=)

70.77

40.5

80.77

confirmed germline variant^a

ALL:0.072% - NFE:0.073%

BCL6

splice_region_variant,intron_variant

NM_001706.4:c.1356-3 T > C

p.?

48.3

30.6

42.9

likely germline variant^b

ALL:0.24% -NFE:0.18%

BRCA2

splice_acceptor_variant

NM_000059.3:c.8755-1G > A

p.?

72.3

72.6

81.2

confirmed germline variant^a

Not known to gnomAD

AR

synonymous_variant

NM_000044.3:c.1365 T > G

NM_000044.3:p.(Gly455=)

13.82

nd

nd

somatic variant^c

Not known to gnomAD

RPS6KB1

synonymous_variant

NM_001272043.1:c.621G > A

NM_001272043.1:p.(Gly207=)

8.99

nd

nd

somatic variant^c

Not known to gnomAD

PDGFRB

missense_variant

NM_002609.3:c.1312G > T

NP_002600.1:p.(Gly438Cys)

nd

33.2

nd

somatic variant^c

Not known to gnomAD

CTNNB1

synonymous_variant

NM_001904.3:c.765C > A

NM_001904.3:p.(Ala255=)

nd

nd

77.66

somatic variant^c

Not known to gnomAD

ERBB4

missense_variant

NM_005235.2:c.670C > A

NP_005226.1:p.(Pro224Thr)

nd

nd

23.68

somatic variant^c

Not known to gnomAD

FGF14

missense_variant

NM_175929.2:c.4G > A

NP_787125.1:p.(Val2Ile)

nd

nd

37.15

somatic variant^c

ALL:0.00040%

NF1

missense_variant

NM_000267.3:c.7086C > G

NP_000258.1:p.(Asn2362Lys)

nd

nd

34.25

somatic variant^c

Not known to gnomAD

TP53

missense_variant

NM_000546.5:c.844C > T

NP_000537.3:p.(Arg282Trp)

nd

nd

73.6

somatic variant^c

ALL:0.00040% - NFE:0.00090%

TSC1

missense_variant

NM_000368.4:c.967C > A

NP_000359.1:p.(Pro323Thr)

nd

nd

32.35

somatic variant^c

ALL:0.00040% - NFE:0.00090%