Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2016347
rs2016347
IGF1R
0.790 0.160 15 98960571 3 prime UTR variant G/A;T snv
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 1.000 1 2014 2014
dbSNP: rs562015640
rs562015640
PTEN
0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 < 0.001 1 2018 2018
dbSNP: rs587782148
rs587782148
TP53
17 7676113 missense variant C/T snv
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 1.000 1 2007 2007
dbSNP: rs762846821
rs762846821
TP53
0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.020 1.000 2 2012 2013
dbSNP: rs28934578
rs28934578
TP53
0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 1.000 1 2018 2018
dbSNP: rs375874539
rs375874539
TP53
0.732 0.320 17 7674237 missense variant G/A;C snv
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 < 0.001 1 2009 2009
dbSNP: rs1288373809
rs1288373809
TP53
0.882 0.120 17 7673255 synonymous variant G/A snv 5.3E-06
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 < 0.001 1 2009 2009
dbSNP: rs587782529
rs587782529
TP53
0.851 0.200 17 7670700 missense variant G/A;C snv
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 1.000 1 1998 1998
dbSNP: rs367597251
rs367597251
MDM2
0.807 0.080 12 68839587 missense variant A/G snv 1.5E-04 5.1E-04
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 1.000 1 2000 2000
dbSNP: rs137852578
rs137852578
AR
0.827 0.080 X 67723710 missense variant A/G snv
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 1.000 1 2002 2002
dbSNP: rs1695
rs1695
GSTP1
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 1.000 1 2012 2012
dbSNP: rs2057482
rs2057482
HIF1A ; HIF1A-AS2 ; HIF1A-AS3
0.701 0.440 14 61747130 3 prime UTR variant T/C snv 0.84 0.80
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 1.000 1 2016 2016
dbSNP: rs11549467
rs11549467
HIF1A ; HIF1A-AS3
0.653 0.400 14 61740857 missense variant G/A snv 8.9E-03 7.0E-03
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 1.000 1 2014 2014
dbSNP: rs11549465
rs11549465
HIF1A ; HIF1A-AS3
0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 1.000 1 2014 2014
dbSNP: rs758272654
rs758272654
GNAS
0.611 0.680 20 58909201 synonymous variant T/C snv 4.0E-06 7.0E-06
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.030 1.000 3 2006 2010
dbSNP: rs7121
rs7121
GNAS
0.882 0.160 20 58903752 missense variant C/G;T snv 0.54
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 1.000 1 2019 2019
dbSNP: rs2273535
rs2273535
AURKA
0.645 0.360 20 56386485 missense variant A/C;T snv 0.28
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.020 1.000 2 2018 2018
dbSNP: rs961150162
rs961150162
EGFR
7 55198779 missense variant G/A;C snv
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 1.000 1 2016 2016
dbSNP: rs1057519848
rs1057519848
EGFR
0.570 0.560 7 55191822 missense variant TG/GT mnv
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 1.000 1 2012 2012
dbSNP: rs121434568
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 1.000 1 2012 2012
dbSNP: rs1057519847
rs1057519847
EGFR
0.570 0.560 7 55191821 missense variant CT/AG mnv
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 1.000 1 2012 2012
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.040 1.000 4 2016 2019
dbSNP: rs2227983
rs2227983
EGFR
0.658 0.520 7 55161562 missense variant G/A;C;T snv 0.29
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 < 0.001 1 2010 2010
dbSNP: rs1057519710
rs1057519710
KIT
0.695 0.280 4 54733166 missense variant G/C;T snv
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 1.000 1 2005 2005
dbSNP: rs969139366
rs969139366
PDGFRA
4 54277974 missense variant T/C snv 3.5E-05
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 1.000 1 2017 2017