Disease: Sarcoma
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs61764370
KRAS
0.662 0.320 12 25207290 3 prime UTR variant A/C snv 6.2E-02 29
rs1057519747
TP53
0.716 0.280 17 7675094 missense variant A/C;G;T snv 23
rs1057519975
TP53
0.649 0.480 17 7675209 missense variant A/C;G;T snv 34
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs121913412
CTNNB1
0.724 0.280 3 41224633 missense variant A/C;G;T snv 19
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1801260
CLOCK ; TMEM165
0.695 0.280 4 55435202 3 prime UTR variant A/G snv 0.25 28
rs267606985
PTHLH
1.000 12 27963693 missense variant A/G snv 3
rs397517132
EGFR
0.623 0.280 7 55191846 missense variant A/T snv 48
rs121913409
CTNNB1
0.708 0.400 3 41224646 missense variant C/A;G;T snv 21
rs1444669684
CDKN2B-AS1 ; CDKN2A
0.658 0.480 9 21994285 missense variant C/A;T snv 36
rs762846821
TP53
0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 57
rs1057519781
ALK
0.807 0.160 2 29209816 missense variant C/G snv 9
rs1238684646
DICER1
14 95090640 missense variant C/G snv 4.0E-06 2
rs1353702185
MDM2
0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 79
rs121434569
EGFR-AS1 ; EGFR
0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 70
rs934945
PER2
0.827 0.200 2 238246412 missense variant C/T snv 0.21 0.15 10
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs121912665
TP53
1.000 0.120 17 7674965 missense variant G/A snv 2.4E-05 7.0E-06 7
rs895520
NPAS2
0.689 0.320 2 100961475 intron variant G/A snv 0.35 23
rs121913254
NRAS
0.658 0.440 1 114713909 stop gained G/A;C;T snv 31
rs121913499
IDH1
0.605 0.520 2 208248389 missense variant G/A;C;T snv 51
rs121913495
GNAS
0.672 0.400 20 58909366 missense variant G/A;T snv 28
rs17655
BIVM-ERCC5 ; ERCC5
0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 52