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Table 4 List of truncating mutations identified in the proband and his relatives

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
ADHFE1 Alcohol dehydrogenase, iron containing, 1 Stop gain 0/1 0/1 0/1 0/0 a 0/1 0/1 NV
AHNAK2 AHNAK nucleoprotein 2 Stop gain 0/1 0/1 0/1 0/0 a 0/1 0/1 NV
BTN3A3 Butyrophilin, subfamily 3, member A3 Stop gain, intronic 0/1 0/1 0/1 a 0/0 0/0 0/0 NV
CHMP2B Charged multivesicular body protein 2B Stop gain, intronic 0/1 0/1 0/1 0/1 0/0 0/0 0/0 Father
DENND2D DENN/MADD domain containing 2D Stop gain, intronic 0/1 0/1 0/1 0/0 0/1 0/1 0/1 Mother
HYDIN HYDIN, axonemal central pair apparatus protein Frameshift del 0/1 0/1 0/1 0/1 0/1 0/1 0/1 Father/mother
KALRN Kalirin, RhoGEF kinase Stop gain, intronic 0/1 0/1 0/1 0/0 0/1 0/1 0/1 Mother
GPR114 ADGRG5, adhesion G protein-coupled receptor G5 Frameshift del 0/1 0/1 0/1 0/0 a 0/1 0/0 NV
MEP1A Meprin A, alpha (PABA peptide hydrolase) Stop gain 0/1 0/1 0/1 0/0 0/1 a 0/1 Mother
SCCPDH Saccharopine dehydrogenase (putative) Frameshift ins 0/1 0/1 0/1 a a 0/0 0/0 NV
TMEM177 Transmembrane protein 177 Stop gain 0/1 0/1 0/1 0/1 0/0 0/0 0/0 Father
TGM4 Transglutaminase 4 Stop gain 0/1 0/1 0/1 0/1 0/0 0/0 0/0 Father
ZNF844 Zinc finger protein 844 Frameshift del 0/1 0/1 0/1 0/0 0/1 0/1 0/1 Mother
  1. “0” refers to reference allele; “1” refers to alternative allele; 0/1 indicates heterozygous variant; 1/1 indicates homozygous variant
  2. aTargeted region presenting low coverage (<10X)