. 2016 Feb 13;17:41. doi: 10.1186/s12863-016-0351-z

Table 3.

Thirty-six mutations in the twelve genes that can be found in 98 CRC cases

Chrom:Position^a	Ref	Obs	dbSNP	Func	Gene	Exonic function	1000G	249 patients	98 CRC cases^b	F1	F2	F3	F4	F5	^c	^d	^e
3:137786496	G	A		exonic	DZIP1L	stopgain SNV			0.0051	N	-	-	N	D			1
3:137790616	C	T	rs150466957	exonic	DZIP1L	ns SNV	0.0009		0.0051	N	D	P	N	N			1
3:137813726	G	A	rs148594666	exonic	DZIP1L	ns SNV	0.0009		0.0051	C	T	P	N	N	1
3:142539852	C	T		exonic	PCOLCE2	ns SNV		0.002	0.0051	C	T	B	D	N			1
3:142548681	C	T	rs140721173	exonic	PCOLCE2	ns SNV	0.0009	0.002	0.0051	N	T	B	D	D			1
3:151163838	T	C	rs34114908	exonic	IGSF10	ns SNV	0.01	0.01	0.0357	N	D	B	N	N		2	3
3:151165241	G	C	rs142202060	exonic	IGSF10	ns SNV	0.0005	0.004	0.0102	C	D	P	N	N		1
3:151165532	G	C	rs35667704	exonic	IGSF10	ns SNV	0.0037	0.0141	0.0153	N	D	P	N	N		1	1
3:151166124	A	G	rs146828199	exonic	IGSF10	ns SNV			0.0051	C	D	D	N	D			1
9:107332377	T	A	rs76017116	exonic	OR13C8	ns SNV	0.01	0.004	0.0153	C	D	B	D	D			3
9:111954616	C	T	rs199718023	exonic	EPB41L4B	ns SNV			0.0051	C	D	B	N	N			1
9:111954622	C	T	rs201059767	exonic	EPB41L4B	ns SNV			0	C	D	B	N	N			1
9:112029768	C	T		exonic	EPB41L4B	ns SNV			0.0051	C	T	B	N	-	1
9:112082510	C	T	rs117569740	exonic	EPB41L4B	ns SNV	0.14	0.1124	0.1531	C	D	B	-	-	8	4	14
9:139345847	G	A	rs45519739	exonic	SEC16A	ns SNV	0.01		0.0153						1		1
9:139348749	G	A	rs79974534	exonic	SEC16A	ns SNV	0.01	0.0141	0.0306						1	1	2
9:139360781	G	A	rs199798606	exonic	SEC16A	ns SNV		0.004	0.0051								1
9:139368953	G	A	rs3812594	exonic	SEC16A	ns SNV	0.16	0.2048	0.2653						9	9	17
9:139369066	G	A	rs148167113	exonic	SEC16A	ns SNV	0.01	0.004	0.0153						1		2
9:139369091	C	T	rs11788702	exonic	SEC16A	ns SNV	0.0005		0.0051								1
9:139369408	C	T	rs200238338	exonic	SEC16A	ns SNV			0.0051						1
9:139369816	G	C	rs200394508	exonic	SEC16A	ns SNV			0.0204						1		3
9:139370955	del9	-		exonic	SEC16A	non-frameshift deletion		0.008	0.0153						1		2
9:139401233	C	T	rs61751543	exonic	NOTCH1	ns SNV	0.01	0.01	0.0204	C	T	D	D	D	2		2
9:139409775	C	T	rs201077220	exonic	NOTCH1	ns SNV	0.0009		0.0051	C	T	B	-	D			1
12:10954258	C	T	rs619381	exonic	TAS2R7	ns SNV	0.07	0.0884	0.1173	N	T	D	N	N	1	5	12
12:10954583	A	T	rs139604652	exonic	TAS2R7	ns SNV	0.0032		0.0051	C	D	D	N	N			1
22:30742345	T	G		exonic	SF3A1	ns SNV			0.0102	C	T	P	D	D			2
22:30953280	C	T	rs55674628	exonic	GAL3ST1	ns SNV	0.01	0.0161	0.0204	C	T	B	N	N	2		3
22:38120338	G	A		exonic	TRIOBP	ns SNV			0.0051	N	-	D	-	-	1
22:38120542	C	T	rs142024473	exonic	TRIOBP	ns SNV	0.03	0.0201	0.0459	C	-	P	-	-	1	1	6
22:38120985	A	G		exonic	TRIOBP	ns SNV			0.0051	N	-	D	-	-	1
22:38121040	C	T	rs41296243	exonic	TRIOBP	ns SNV	0.01	0.0201	0.0306	N	-	P	-	-	2	1	2
22:38121795	C	T	rs200359708	exonic	TRIOBP	ns SNV	0.0018		0.0051	C	-	D	-	-	1
22:38122414	AG	-		exonic	TRIOBP	frameshift deletion			0.0051								2
22:38129388	G	A	rs34066624	exonic	TRIOBP	ns SNV	0.0023	0.008	0.0204	C	-	-	-	-	1		3

^aGRCh37 (hg19) coordinates

^b1000 Genomes version April 2012 (hg19)

^cNumber of families where only one individual was sequenced and had a mutation

^dNumber of families where at least two individuals were sequenced and the mutation segregated

^eNumber of families where at least two individuals were sequenced and the mutation did not segregate

F1, Phylop; C, Conserved; N, Not conserved

F2, SIFT; T, Tolerated; D, Deleterious

F3, Polyphen2; D, Probably damaging; P, Possibly damaging; B, Benign

F4, LRT; N, Neutral; D, Deleterious

F5, MutationTaster; N, Polymorphism; D, Disease causing