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Table 3 List of variants identified in the WES data of the proband (blood and normal tissue) through the “Candidate gene approach”

From: Whole exome sequencing and single nucleotide polymorphism array analyses to identify germline alterations in genes associated with testosterone metabolism in a patient with androgen insensitivity syndrome and early-onset colorectal cancer

Gene symbol Gene name Mutation type III.2 Proband’s blood sample III.2 Proband’s normal colon tissue III.2 Proband’s CRC tissue II.1 Father’s blood sample II.2 Mother’s blood sample II.3 Aunt’s blood sample III.3 Cousin’s blood sample Inheritance
APC Adenomatous polyposis coli Synonymous 1/1 1/1 1/1 0/1 0/1 1/1 1/1 Both parents
0/1 0/1 0/1 0/0 a 0/1 1/1 NV
0/1 0/1 0/1 0/0 1/1 1/1 1/1 Mother
AXIN2 Axin 2 Intronic 1/1 1/1 1/1 1/1 0/1 1/1 1/1 Both parents
BCOR BCL6 corepressor Synonymous 1/1 1/1 1/1 1/1 1/1 1/1 1/1 Both parents
CASP8 Caspase 8, apoptosis-related cysteine peptidase Missense 0/1 0/1 0/1 1/1 0/0 0/1 1/1 Father
ELF3 E74-like factor 3 (ets domain transcription factor, epithelial-specific) Synonymous 0/1 0/1 0/1 0/1 a 0/0 0/1 Father
EPHB2 EPH receptor B2 Intronic 0/1 1/1 1/1 0/1 0/1 1/1 0/1 Both parents
Synonymous 1/1 1/1 1/1 1/1 a a 1/1 NV
ERBB2 Erb-b2 receptor tyrosine kinase 2 Missense 1/1 1/1 1/1 1/1 0/0 0/1 0/1 De novo
GOT1 Glutamic-oxaloacetic transaminase 1, soluble Synonymous 0/1 0/1 0/1 0/1 0/0 0/0 0/0 Father
KRAS Kirsten rat sarcoma viral oncogene homolog 3′-UTR 1/1 1/1 1/1 1/1 a 1/1 1/1 NV
1/1 1/1 1/1 1/1 1/1 0/1 0/1 Both parents
Synonymous 1/1 1/1 1/1 1/1 a 1/1 1/1 NV
MLH1 mutL homolog 1 Missense 1/1 1/1 1/1 0/1 0/0 0/0 0/1 De novo
MSH6 mutS homolog 6 Synonymous 0/1 0/1 0/1 0/0 0/1 0/1 0/1 Mother
NR4A2 Nuclear receptor subfamily 4, group A, member 2 3′-UTR 1/1 1/1 1/1 1/1 0/1 1/1 1/1 Both parents
NTN4 Netrin 4 Missense 0/1 0/1 0/1 1/1 0/0 0/1 0/1 Father
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae) Intronic 1/1 1/1 1/1 0/1 1/1 0/0 0/1 Both parents
POLE Polymerase (DNA directed), epsilon, catalytic subunit Intronic 0/1 0/1 0/1 0/1 0/0 0/0 0/0 Father
Synonymous 0/1 0/1 0/1 1/1 0/1 0/1 0/1 Both parents
0/1 0/1 0/1 0/0 a a 0/0 NV
0/1 0/1 0/0 1/1 0/0 0/0 0/0 Father
PTPRJ Protein tyrosine phosphatase, receptor type, J Intronic 1/1 0/1 0/1 1/1 0/1 a 0/1 Both parents
Missense 1/1 1/1 1/1 0/1 1/1 0/1 0/1 Both parents
SMAD4 SMAD family member 4 Intronic 0/1 0/1 0/1 0/1 0/1 0/0 1/1 Both parents
  1. “0” refers to reference allele; “1” refers to alternative allele; 0/1 indicates heterozygous variant; 1/1 indicates homozygous variant
  2. UTR untranslated region
  3. aTargeted region presenting low coverage (<10X)