1. Pathogenic mutations and likely pathogenic mutations.

Sample ID	Mutation name	Function	Mutation frequency	Depth	Clinical significance
GC001	NM_000051.3(ATM): c.8473C>T (p.Q2825*)	Nonsense	0.50	254	Pathogenic
GC002	NM_000051.3(ATM): c.8435_8436delCT (p.S2812Ffs*2)	Frameshift	0.45	220	Pathogenic
GC003	NM_000051.3(ATM): c.6100C>T (p.R2034*)	Nonsense	0.50	206	Pathogenic
GC004	NM_007294.3(BRCA1): c.2138C>G (p.S713*)	Nonsense	0.50	424	Pathogenic
GC005	NM_007294.3(BRCA1): c.3359_3363delTTAAT (p.V1120Dfs*11)	Frameshift	0.42	329	Likely Pathogenic
GC006	NM_032043.2(BRIP1): c.3185_3186delCA (p.T1062Ifs*18)	Frameshift	0.48	465	Likely Pathogenic
GC007	NM_032043.2(BRIP1): c.2990_2993delCAAA (p.T997Rfs*61)	Frameshift	0.49	176	Pathogenic
GC008	NM_004360.3(CDH1): c.603delT (p.V202Lfs*13)	Frameshift	0.43	291	Pathogenic
GC009	NM_002354.2(EPCAM): c.753T>G (p.Y251*)	Nonsense	0.45	182	Likely Pathogenic
GC010	NM_024642.4(GALNT12): c.5G>A (p.W2*)	Nonsense	0.41	117	Likely Pathogenic
GC011	NM_001040108.1(MLH3): c.429dupG (p.T144Dfs*7)	Frameshift	0.47	311	Likely Pathogenic
GC012	NM_002439.4(MSH3): c.1764-2A>G	Splice-3	0.43	230	Likely Pathogenic
GC013	NM_001128425.1(MUTYH): c.55C>T (p.R19*)	Nonsense	0.49	267	Pathogenic
GC014	NM_002485.4(NBN): c.2206G>T (p.E736*)	Nonsense	0.46	154	Likely Pathogenic
GC015	NM_024675.3(PALB2): c.3114-2A>G	Splice-3	0.50	114	Likely Pathogenic
GC016	NM_000535.5(PMS2): c.24-1G>C	Splice-3	0.45	211	Likely Pathogenic
GC017	NM_005732.3(RAD50): c.2165_2166insT (p.K722Nfs*6)	Frameshift	0.49	333	Pathogenic
GC018	NM_002878.3(RAD51D): c.270_271dupTA (p.K91Ifs*13)	Frameshift	0.45	164	Pathogenic
GC019	NM_002878.3(RAD51D): c.270_271dupTA (p.K91Ifs*13)	Frameshift	0.41	259	Pathogenic
GC020	NM_003000.2(SDHB): c.137G>A (p.R46Q)	Missense	0.53	209	Pathogenic