Table 8.

Detected mutations in analyzed colonic tissue samples.

Gene symbol	Variant	cDNA position	Amino acid alteration	Affected cDNA sequence	Annotation	Affected samples
APC_1	96:C/T	3871	Q1291stop	ATGTAATCAGACG	COSM19072	—
APC_1	140:A/-	3915	Frameshift from aa 1306 Truncated protein (length 1366 aa instead of 2843 aa)	ATAGCAGAAATA	—	—
APC_1	141:G/T	3916	E1306stop	ATAGCAGAAATA	COSM18760	—
APC_2	31:G/T	3925	E1309stop	ATAAAAGAAAAGA	COSM18775	MCS_20100810_0008_01_220 (AD)
APC_2	33–37:AAAGA/—–	3927	Frameshift from aa 1309 Truncated protein (length 1311 aa instead of 2843 aa)	ATAAAAGAAAAGATTGG	COSM13113	MCS_20100923_0009_01_220 (AD) MCS_20110203_0011_02_312 (CRC) MCS_20110000_0023_02_311 (CRC)
APC_2	70:G/T	3964	E1322stop	TGTGAGCGAAGTTCC	COSM18702	—
APC_2	139:G/T	4033	E1345stop	ATCTTCAGAATCA	COSM18759	MCS_20100427_0005_01_210 (AD)
APC_3	125:G/T	4135	E1379stop	GTTCAGGAGACCCC	COSM18834	—
APC_4	111.5:-/T	4241	Frameshift from aa 1415 Truncated protein (length 1421 aa instead of 2843 aa)	GAATGGTAAGTGGCA	COSM19703	—
APC_5	67:A/-	4314	Frameshift from aa 1439 Truncated protein (length 1421 aa instead of 2843 aa)	TAAAACACCTCCAC	COSM296347	MCS_20110111_0010_01_220 (AD)
APC_5	101:C/T	4348	R1450stop	ACCAAGCGAGAAGTA	COSM13127	—
APC_6	105:G/A	4479	Silent T1493T	GCCACGGAAAGTA	SNP rs41115	MCS_20091104_0002_01_220 (AD) MCS_20100222_0004_01_210 (AD) MCS_20100610_0006_01_220 (AD) MCS_20100810_0008_01_220 (AD) MCS_20100923_0009_01_220 (AD) MCS_20110310_0012_01_210 (AD) MCS_20120109_0014_01_211 (AD) MCS_20120320_0016_01_211 (AD) MCS_20110203_0011_02_312 (CRC) MCS_20100610_0006_02_322 (CRC) MCS_20110111_0010_02_322 (CRC) MCS_20110310_0012_02_312 (CRC) MCS_20110000_0023_02_311 (CRC)
CTNNB1_1	123:C/T	47	P16L	TGGAACCAGACAGA	—	—
CTNNB1_2	87:C/T		S45F	TCCTTCTCTGAGT	COSM5667	—

aa: aminoacid