Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519781
ALK
0.807 0.160 2 29209816 missense variant C/G snv 9
rs786201675
ATM
0.925 0.320 11 108282838 frameshift variant TTATT/- delins 4
rs17655
BIVM-ERCC5 ; ERCC5
0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 52
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs886040738
BRCA2
0.851 13 32363188 frameshift variant G/- delins 7
rs80359030
BRCA2
0.851 13 32363189 stop gained G/A;T snv 4.0E-06 6
rs532480170
C11orf65 ; ATM
0.882 0.280 11 108316015 stop gained C/A;T snv 1.2E-05; 4.0E-06 5
rs1444669684
CDKN2B-AS1 ; CDKN2A
0.658 0.480 9 21994285 missense variant C/A;T snv 36
rs1555927374
CHEK2
22 28725346 stop gained C/T snv 1
rs1801260
CLOCK ; TMEM165
0.695 0.280 4 55435202 3 prime UTR variant A/G snv 0.25 28
rs121913409
CTNNB1
0.708 0.400 3 41224646 missense variant C/A;G;T snv 21
rs121913412
CTNNB1
0.724 0.280 3 41224633 missense variant A/C;G;T snv 19
rs1238684646
DICER1
14 95090640 missense variant C/G snv 4.0E-06 2
rs397517132
EGFR
0.623 0.280 7 55191846 missense variant A/T snv 48
rs121434569
EGFR-AS1 ; EGFR
0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 70
rs1057519861
EGFR ; EGFR-AS1
0.776 0.080 7 55181398 missense variant T/A snv 15
rs351855
FGFR4
0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 58
rs121913495
GNAS
0.672 0.400 20 58909366 missense variant G/A;T snv 28
rs121913499
IDH1
0.605 0.520 2 208248389 missense variant G/A;C;T snv 51
rs61764370
KRAS
0.662 0.320 12 25207290 3 prime UTR variant A/C snv 6.2E-02 29
rs121913238
KRAS
0.732 0.240 12 25227343 missense variant G/C;T snv 17
rs28933406
LRRC56 ; HRAS
0.667 0.480 11 533875 missense variant G/C;T snv 27
rs1353702185
MDM2
0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 79
rs2279744
MDM2
0.605 0.640 12 68808800 intron variant T/G snv 0.31 48