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. Author manuscript; available in PMC: 2021 Dec 15.
Published in final edited form as: Cancer Res. 2021 Apr 14;81(12):3162–3173. doi: 10.1158/0008-5472.CAN-20-3196

Table 2:

Candidate Variants for Causality in Candidate Genes

ID POS Family LOD Gene FREQ1 FREQ2 TF
Binding
Potential TF
Protein
rs564982701 157406633 59 0.7561 ARID1B 0.0168 0.0011 0.93 ATF5 CCTCTTCCTTA
rs187390535 157172983 47 0.8131 ARID1B 0.0143 0.0077 0.87 BARHL2 TAAACG
rs150018283 157322342 47 0.8132 ARID1B 0.0142 0.0015 1.0 IRF7 ACTTTCGCTTTCG TRIM63 AGTTTCACTTT
rs62435519 161536849 44 1.2865 MAP3K4 0.0164 0.0061 0.61 N/A
rs140997681 161489813 42 0.5351 MAP3K4 0.0156 0.0015 0.24 GABPA ATGACTCAGCA
rs186871831 144973790 30 0.7701 UTRN 0.0151 0.0066 0.70 N/A
rs532363235 144709986 33 0.5484 UTRN 0.0149 0.0023 0.59 N/A
rs191491353 144670343 35 0.3277 UTRN 0.0171 0.0086 0.39 NFKB1 GGGGATTCCCT, NFKB2 GGGGAATCCCC, REL GGGTTTCC
rs966382235 144001704 30 0.7693 PHACTR2 0.0153 0.0003 0.61 N/A
rs79313503 143998579 33 0.5629 PHACTR2 0.0154 0.0030 0.61 N/A
rs553447284 144051910 35 0.3388 PHACTR2 0.0142 0.0002 0.58 N/A

Legend: The best candidate causal variants for each family in the best candidate gene along the linked haplotype. All variants are intronic. Here, the headers represent: ID = rs ID of the variant, POS = the physical position in base pairs, Family = Family that the minor allele of the variant appears in, LOD = LOD score of the variant from the family in column 3, Gene = the genic location of the variant, FREQ1 = the minor allele frequency of the variant in the founders in all families in our dataset, FREQ2 = the minor allele frequency of the variant in gnomAD NFE, TF binding = the transcription factor binding probability score of the variant as calculated by RegulomeDB, with 1.0 being the highest score and corresponding to a 100% chance of the variant being a TF binding site, Potential TF Protein = Protein that is known to bind to the motif that the SNP is found in (according to RegulomeDB). The binding motif of the protein is provided below the protein name (with the SNP allele bolded).