Disease: Squamous cell carcinoma
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs104886003
PIK3CA
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 71
rs1057519847
EGFR
0.570 0.560 7 55191821 missense variant CT/AG mnv 72
rs1057519848
EGFR
0.570 0.560 7 55191822 missense variant TG/GT mnv 72
rs1057519911
MAPK1
0.776 0.160 22 21772875 missense variant C/T snv 10
rs1057520001
TP53
0.677 0.360 17 7674886 missense variant A/C;G snv 23
rs1130409
APEX1
0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv 73
rs121434592
AKT1
0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 54
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs121913465
EGFR ; EGFR-AS1
0.763 0.160 7 55181312 missense variant G/T snv 11
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv 63
rs13181
KLC3 ; ERCC2
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs1353702185
MDM2
0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 79
rs1389500636
EGFR
0.827 0.080 7 55156796 missense variant G/A snv 6
rs1458974438
STK11
0.807 0.080 19 1206957 missense variant G/A snv 9
rs17577
SLC12A5-AS1 ; MMP9
0.649 0.520 20 46014472 missense variant G/A;C snv 0.16 31
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 53
rs1799793
ERCC2
0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 72
rs1800975
XPA
0.701 0.360 9 97697296 5 prime UTR variant T/C;G snv 0.63; 4.5E-06; 4.5E-06 19
rs1801270
CDKN1A
0.689 0.400 6 36684194 missense variant C/A;T snv 0.15; 4.4E-05 22
rs217727
MRPL23 ; HOTS ; H19
0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20 34
rs2233678
PIN1 ; LOC100996288
0.732 0.360 19 9834503 non coding transcript exon variant G/A;C snv 14