Table 6.
Replication and Segregation of Validated Variants
| Segregation |
|||||||
|---|---|---|---|---|---|---|---|
| GRCh37 Chr:Position |
Gene Name |
dbSNP130 | Variant Type |
Family | Additional CRC-affected carriers |
unaffected carriers |
Polyp- affected carriers |
| 20:2,597,716 | TMC2 | - | Splice-site | 2/3* | 0/1 | 3/4 | |
| 4:100,130,075 | ADH6 | rs149932401 | Missense | 3/3* | 0/1 | 3/4 | |
| 4:104,030,143 | CENPE | - | Missense | 1 | 3/3* | 0/1 | 3/4† |
| 19:48,735,017 | CARD8 | rs146319637 | Frameshift | 2/3* | 1/1¥ | 2/4 | |
| 4:57,204,689 | AASDH | - | Frameshift | 2/3* | 0/1 | 4/4 | |
|
| |||||||
| 6:121,560,230 | C6orf170 | - | Nonsense | 0/0 | 0/2 | 4/7 | |
| 16:24,873,990 | SLC5A11 | - | Nonsense | 1/1* | 1/2 | 5/7 | |
| 22:44,287,073 | PNPLA5 | - | Nonsense | 1/1* | 1/2 | 3/7 | |
| 3:187,003,786 | MASP1 | - | Missense | 2 | 0/0 | 1/2 | 2/7 |
| 3:186,331,094 | AHSG | - | Missense | 1/1* | 1/2 | 3/7 | |
| 12:70,088,219 | BEST3 | - | Frameshift | 1/1* | 0/2 | 5/7 | |
| 11:64,543,927 | SF1 | rs34514973 | Frameshift | 1/1* | 1/2 | 4/7 | |
|
| |||||||
| 19:55,327,891 | KIR3DL1 | rs71367103 | Upstream | 3 | 2/2 | 1/1 | n/a |
| 15:75,798,025 | PTPN9 | - | Frameshift | 0/2 | 0/1 | n/a | |
|
| |||||||
| 13:24,243,246 | TNFRSF19 | - | Nonsense | 1/1 | 1/4 | 1/1 | |
| 19:11,943,225 | ZNF440 | - | Nonsense | 1/1 | 0/4 | 0/1 | |
| 19:44,778,796 | ZNF233 | - | Frameshift | 1/1† | 3/4 | 1/1 | |
| 16:336,700 | PDIA2 | rs201624048 | Frameshift | 12 | 1/1 | 1/4 | 0/1 |
| 2:196,661,361 | DNAH7 | - | Frameshift | 1/1 | 1/4 | 1/1 | |
| 7:128,587,351 | IRF5 | rs60344245 | Deletion | 1/1 | 4/4 | 1/1 | |
| 7:15,601,409 | AGMO | - | Frameshift | 1/1 | 1/4 | 0/1 | |
| 20:34,215,234 | CPNE1 | rs76294482 | Frameshift | 0/1 | 3/4 | 0/1 | |
|
| |||||||
| 19:40,195,184 | LGALS14 | - | Nonsense | 0/1 | 1/3 | n/a | |
| 14:21,779,981 | RPGRIP1 | - | Splice-site | 1/1 | 0/3 | n/a | |
| 15:69,732,770 | KIF23 | - | Missense | 16 | 1/1 | 0/3 | n/a |
| 3:178,960,766 | KCNMB3 | rs143962239 | Frameshift | 0/1 | 2/3 | n/a | |
| 9:43,844,264 | CNTNAP3B | - | Frameshift | 1/1 | 3/3 | n/a | |
*
Includes one obligate carrier
†
at least 1 individual is homozygous for the variant
¥
has stomach cancer
All individuals with available DNA in each family (excluding the original WES samples) were tested for each variant (Family 1, n=8; Family 2, n=10; Family 3, n=3; Family 12, n=6; Family 16, n=5). Only results of successful sequencing are reported in the table.