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Table 2.

Description of the prognostic germline variants identified in this study

Aa
VariantChromPosRefAltPopulation frequencySample sizeNumber of heterozygotesNumber of homozygotesGene nameMedian expression (FPKM)PHR
rs61757955 17 75318086 5.01% 291 21 GRB2 42.2 7.08E-10 20.4   
rs28672782 11 1446622 16.27% 50 15 BRSK2 7.29 <1E-16 1.15E-10   
Bb 
Variant Chrom Pos Ref Alt Population frequency CADD Score PhyloP Score Gene name Dataset Sample size Number of heterozygotes Number of homozygotes P HR 
rs34988193 15 64943580 30.90% 32 8.42 ANKDD1a TCGA 450 199 52 0.00113 1.73 
         CGGA 76 18 0.0743 1.79 
Aa
VariantChromPosRefAltPopulation frequencySample sizeNumber of heterozygotesNumber of homozygotesGene nameMedian expression (FPKM)PHR
rs61757955 17 75318086 5.01% 291 21 GRB2 42.2 7.08E-10 20.4   
rs28672782 11 1446622 16.27% 50 15 BRSK2 7.29 <1E-16 1.15E-10   
Bb 
Variant Chrom Pos Ref Alt Population frequency CADD Score PhyloP Score Gene name Dataset Sample size Number of heterozygotes Number of homozygotes P HR 
rs34988193 15 64943580 30.90% 32 8.42 ANKDD1a TCGA 450 199 52 0.00113 1.73 
         CGGA 76 18 0.0743 1.79 

aA description of the two prognostic germline variants (FDR < 0.10) in the TCGA dataset identified when testing all 196,022 germline variants.

bA description of the prognostic germline variant (FDR < 0.10) rs34988193 in ANKDD1a identified when the analysis was restricted to only germline variants with a combined annotation dependent depletion (CADD) score greater than 30 in the TCGA and CGGA datasets.

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