Table 5.

Validation of Identified Variants

GRCh37 Chr:Position	Gene Name	dbSNP130	Variant Type	Family	Technical validation of exome sequenced CRC- affected carriers
20:2,597,716 4:100,130,075 4:104,030,143 19:48,735,017 4:57,204,689	TMC2 ADH6 CENPE CARD8 AASDH	- rs149932401 - rs146319637 -	Splice-site Missense Missense Frameshift Frameshift	1	2/2 2/2 2/2 2/2 2/2
6:121,560,230 16:24,873,990 22:44,287,073 3:187,003,786 3:186,331,094 12:70,088,219 11:64,543,927	C6orf170 SLC5A11 PNPLA5 MASP1 AHSG BEST3 SF1	- - - - - - rs34514973	Nonsense Nonsense Nonsense Missense Missense Frameshift Frameshift	2	3/3 3/3 3/3 3/3 3/3 3/3 3/3
19:55,327,891 15:75,798,025	KIR3DL1 PTPN9	rs71367103 -	Upstream Frameshift	3	3/3 3/3
4:77,660,829	SHROOM3	rs73826426	Nonsense	8, 9	0/3
13:24,243,246 19:11,943,225 19:44,778,796 16:336,700 2:196,661,361 7:128,587,351 7:15,601,409 20:34,215,234	TNFRSF19 ZNF440 ZNF233 PDIA2 DNAH7 IRF5 AGMO CPNE1	- - - rs201624048 - rs60344245 - rs76294482	Nonsense Nonsense Frameshift Frameshift Frameshift Deletion Frameshift Frameshift	12	2/2 2/2 2/2 2/2 2/2 2/2 2/2 2/2
19:40,195,184 2:166,904,221 14:21,779,981 15:69,732,770 3:178,960,766 9:43,844,264 11:76751,603 X:135,960,146	LGALS14 SCN1A * RPGRIP1 KIF23 KCNMB3 CNTNAP3B B3GNT6 * RBMX *	- - - - rs143962239 - - -	Nonsense Nonsense Splice-site Missense Frameshift Frameshift Frameshift Frameshift	16	3/3 0/3 3/3 3/3 3/3 3/3 0/3 0/3

^*Variants in bold were not validated and considered false positives.