218333302:splice
218333302:variant
goto
PNKDintron_variantc.237-6481C>T
ARPC2
Adipose_Subcutaneous
6.438
-0.108
261391
a0001 a0005
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0008 others(1): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(8): Hide
a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0092 a0001c0001t0001g0116 a0001c0001t0001g0209 others(86): Hide
HG00099.hp1 HG00323.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 others(86): Hide
0.369
428
525
10
chr2_218333302_C_T_b38
+
MODIFIER
chr2
C
T
TogoVar
218333302:splice
218333302:variant
goto
PNKDintron_variantc.237-6481C>T
TMBIM1
Adipose_Subcutaneous
6.562
-0.081
261391
a0001 a0005
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0008 others(1): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(8): Hide
a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0092 a0001c0001t0001g0116 a0001c0001t0001g0209 others(86): Hide
HG00099.hp1 HG00323.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 others(86): Hide
0.369
428
525
10
chr2_218333302_C_T_b38
+
MODIFIER
chr2
C
T
TogoVar
218333302:splice
218333302:variant
goto
PNKDintron_variantc.237-6481C>T
PNKD
Adrenal_Gland
6.587
-0.250
261391
a0001 a0005
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0008 others(1): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(8): Hide
a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0092 a0001c0001t0001g0116 a0001c0001t0001g0209 others(86): Hide
HG00099.hp1 HG00323.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 others(86): Hide
0.383
181
226
10
chr2_218333302_C_T_b38
+
MODIFIER
chr2
C
T
TogoVar
218333302:splice
218333302:variant
goto
PNKDintron_variantc.237-6481C>T
TMBIM1
Artery_Aorta
9.391
-0.192
261391
a0001 a0005
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0008 others(1): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(8): Hide
a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0092 a0001c0001t0001g0116 a0001c0001t0001g0209 others(86): Hide
HG00099.hp1 HG00323.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 others(86): Hide
0.379
295
358
10
chr2_218333302_C_T_b38
+
MODIFIER
chr2
C
T
TogoVar
218333302:splice
218333302:variant
goto
PNKDintron_variantc.237-6481C>T
TMBIM1
Artery_Tibial
16.729
-0.162
261391
a0001 a0005
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0008 others(1): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(8): Hide
a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0092 a0001c0001t0001g0116 a0001c0001t0001g0209 others(86): Hide
HG00099.hp1 HG00323.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 others(86): Hide
0.361
407
497
10
chr2_218333302_C_T_b38
+
MODIFIER
chr2
C
T
TogoVar
218333302:splice
218333302:variant
goto
PNKDintron_variantc.237-6481C>T
PNKD
Brain_Caudate_basal_ganglia
8.866
0.181
261391
a0001 a0005
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0008 others(1): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(8): Hide
a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0092 a0001c0001t0001g0116 a0001c0001t0001g0209 others(86): Hide
HG00099.hp1 HG00323.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 others(86): Hide
0.356
174
212
10
chr2_218333302_C_T_b38
+
MODIFIER
chr2
C
T
TogoVar
218333302:splice
218333302:variant
goto
PNKDintron_variantc.237-6481C>T
PNKD
Brain_Frontal_Cortex_BA9
5.512
0.125
261391
a0001 a0005
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0008 others(1): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(8): Hide
a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0092 a0001c0001t0001g0116 a0001c0001t0001g0209 others(86): Hide
HG00099.hp1 HG00323.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 others(86): Hide
0.351
153
188
10
chr2_218333302_C_T_b38
+
MODIFIER
chr2
C
T
TogoVar
218333302:splice
218333302:variant
goto
PNKDintron_variantc.237-6481C>T
PNKD
Brain_Nucleus_accumbens_basal_ganglia
10.081
0.206
261391
a0001 a0005
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0008 others(1): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(8): Hide
a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0092 a0001c0001t0001g0116 a0001c0001t0001g0209 others(86): Hide
HG00099.hp1 HG00323.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 others(86): Hide
0.366
167
208
10
chr2_218333302_C_T_b38
+
MODIFIER
chr2
C
T
TogoVar
218333302:splice
218333302:variant
goto
PNKDintron_variantc.237-6481C>T
PNKD
Brain_Putamen_basal_ganglia
6.317
0.171
261391
a0001 a0005
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0008 others(1): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(8): Hide
a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0092 a0001c0001t0001g0116 a0001c0001t0001g0209 others(86): Hide
HG00099.hp1 HG00323.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 others(86): Hide
0.360
146
182
10
chr2_218333302_C_T_b38
+
MODIFIER
chr2
C
T
TogoVar
218333302:splice
218333302:variant
goto
PNKDintron_variantc.237-6481C>T
TMBIM1
Cells_Cultured_fibroblasts
13.446
-0.168
261391
a0001 a0005
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0008 others(1): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(8): Hide
a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0092 a0001c0001t0001g0116 a0001c0001t0001g0209 others(86): Hide
HG00099.hp1 HG00323.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 others(86): Hide
0.374
400
485
10
chr2_218333302_C_T_b38
+
MODIFIER
chr2
C
T
TogoVar
218333302:splice
218333302:variant
goto
PNKDintron_variantc.237-6481C>T
TMBIM1
Cells_EBV-transformed_lymphocytes
9.754
-0.238
261391
a0001 a0005
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0008 others(1): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(8): Hide
a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0092 a0001c0001t0001g0116 a0001c0001t0001g0209 others(86): Hide
HG00099.hp1 HG00323.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 others(86): Hide
0.354
192
231
10
chr2_218333302_C_T_b38
+
MODIFIER
chr2
C
T
TogoVar
218333302:splice
218333302:variant
goto
PNKDintron_variantc.237-6481C>T
TUBA4A
Colon_Transverse
4.527
-0.113
261391
a0001 a0005
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0008 others(1): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(8): Hide
a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0092 a0001c0001t0001g0116 a0001c0001t0001g0209 others(86): Hide
HG00099.hp1 HG00323.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 others(86): Hide
0.363
284
347
10
chr2_218333302_C_T_b38
+
MODIFIER
chr2
C
T
TogoVar
218333302:splice
218333302:variant
goto
PNKDintron_variantc.237-6481C>T
TMBIM1
Esophagus_Muscularis
4.196
-0.089
261391
a0001 a0005
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0008 others(1): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(8): Hide
a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0092 a0001c0001t0001g0116 a0001c0001t0001g0209 others(86): Hide
HG00099.hp1 HG00323.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 others(86): Hide
0.366
343
411
10
chr2_218333302_C_T_b38
+
MODIFIER
chr2
C
T
TogoVar
218333302:splice
218333302:variant
goto
PNKDintron_variantc.237-6481C>T
ARPC2
Heart_Atrial_Appendage
4.970
-0.107
261391
a0001 a0005
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0008 others(1): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(8): Hide
a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0092 a0001c0001t0001g0116 a0001c0001t0001g0209 others(86): Hide
HG00099.hp1 HG00323.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 others(86): Hide
0.364
280
335
10
chr2_218333302_C_T_b38
+
MODIFIER
chr2
C
T
TogoVar
218333302:splice
218333302:variant
goto
PNKDintron_variantc.237-6481C>T
TMBIM1
Heart_Atrial_Appendage
16.097
-0.256
261391
a0001 a0005
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0008 others(1): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(8): Hide
a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0092 a0001c0001t0001g0116 a0001c0001t0001g0209 others(86): Hide
HG00099.hp1 HG00323.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 others(86): Hide
0.364
280
335
10
chr2_218333302_C_T_b38
+
MODIFIER
chr2
C
T
TogoVar
218333302:splice
218333302:variant
goto
PNKDintron_variantc.237-6481C>T
TMBIM1
Heart_Left_Ventricle
7.495
-0.156
261391
a0001 a0005
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0008 others(1): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(8): Hide
a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0092 a0001c0001t0001g0116 a0001c0001t0001g0209 others(86): Hide
HG00099.hp1 HG00323.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 others(86): Hide
0.362
274
326
10
chr2_218333302_C_T_b38
+
MODIFIER
chr2
C
T
TogoVar
218333302:splice
218333302:variant
goto
PNKDintron_variantc.237-6481C>T
ARPC2
Lung
8.855
-0.119
261391
a0001 a0005
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0008 others(1): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(8): Hide
a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0092 a0001c0001t0001g0116 a0001c0001t0001g0209 others(86): Hide
HG00099.hp1 HG00323.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 others(86): Hide
0.361
358
434
10
chr2_218333302_C_T_b38
+
MODIFIER
chr2
C
T
TogoVar
218333302:splice
218333302:variant
goto
PNKDintron_variantc.237-6481C>T
ARPC2
Muscle_Skeletal
12.141
-0.165
261391
a0001 a0005
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0008 others(1): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(8): Hide
a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0092 a0001c0001t0001g0116 a0001c0001t0001g0209 others(86): Hide
HG00099.hp1 HG00323.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 others(86): Hide
0.372
498
607
10
chr2_218333302_C_T_b38
+
MODIFIER
chr2
C
T
TogoVar
218333302:splice
218333302:variant
goto
PNKDintron_variantc.237-6481C>T
TMBIM1
Muscle_Skeletal
9.757
-0.151
261391
a0001 a0005
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0008 others(1): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(8): Hide
a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0092 a0001c0001t0001g0116 a0001c0001t0001g0209 others(86): Hide
HG00099.hp1 HG00323.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 others(86): Hide
0.372
498
607
10
chr2_218333302_C_T_b38
+
MODIFIER
chr2
C
T
TogoVar
218333302:splice
218333302:variant
goto
PNKDintron_variantc.237-6481C>T
ARPC2
Nerve_Tibial
5.519
-0.107
261391
a0001 a0005
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0008 others(1): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(8): Hide
a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0092 a0001c0001t0001g0116 a0001c0001t0001g0209 others(86): Hide
HG00099.hp1 HG00323.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 others(86): Hide
0.369
404
492
10
chr2_218333302_C_T_b38
+
MODIFIER
chr2
C
T
TogoVar
218333302:splice
218333302:variant
goto
PNKDintron_variantc.237-6481C>T
TMBIM1
Nerve_Tibial
8.646
-0.097
261391
a0001 a0005
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0008 others(1): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(8): Hide
a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0092 a0001c0001t0001g0116 a0001c0001t0001g0209 others(86): Hide
HG00099.hp1 HG00323.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 others(86): Hide
0.369
404
492
10
chr2_218333302_C_T_b38
+
MODIFIER
chr2
C
T
TogoVar
218333302:splice
218333302:variant
goto
PNKDintron_variantc.237-6481C>T
GPBAR1
Pituitary
3.996
-0.246
261391
a0001 a0005
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0008 others(1): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(8): Hide
a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0092 a0001c0001t0001g0116 a0001c0001t0001g0209 others(86): Hide
HG00099.hp1 HG00323.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 others(86): Hide
0.357
182
222
10
chr2_218333302_C_T_b38
+
MODIFIER
chr2
C
T
TogoVar
218333302:splice
218333302:variant
goto
PNKDintron_variantc.237-6481C>T
PNKD
Pituitary
4.998
-0.209
261391
a0001 a0005
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0008 others(1): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(8): Hide
a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0092 a0001c0001t0001g0116 a0001c0001t0001g0209 others(86): Hide
HG00099.hp1 HG00323.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 others(86): Hide
0.357
182
222
10
chr2_218333302_C_T_b38
+
MODIFIER
chr2
C
T
TogoVar
218333302:splice
218333302:variant
goto
PNKDintron_variantc.237-6481C>T
TMBIM1
Pituitary
8.072
-0.213
261391
a0001 a0005
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0008 others(1): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(8): Hide
a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0092 a0001c0001t0001g0116 a0001c0001t0001g0209 others(86): Hide
HG00099.hp1 HG00323.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 others(86): Hide
0.357
182
222
10
chr2_218333302_C_T_b38
+
MODIFIER
chr2
C
T
TogoVar
218333302:splice
218333302:variant
goto
PNKDintron_variantc.237-6481C>T
PNKD
Skin_Not_Sun_Exposed_Suprapubic
23.633
-0.392
261391
a0001 a0005
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0008 others(1): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(8): Hide
a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0092 a0001c0001t0001g0116 a0001c0001t0001g0209 others(86): Hide
HG00099.hp1 HG00323.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 others(86): Hide
0.368
392
478
10
chr2_218333302_C_T_b38
+
MODIFIER
chr2
C
T
TogoVar
218333302:splice
218333302:variant
goto
PNKDintron_variantc.237-6481C>T
PNKD
Skin_Sun_Exposed_Lower_leg
25.443
-0.345
261391
a0001 a0005
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0008 others(1): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(8): Hide
a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0092 a0001c0001t0001g0116 a0001c0001t0001g0209 others(86): Hide
HG00099.hp1 HG00323.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 others(86): Hide
0.363
451
545
10
chr2_218333302_C_T_b38
+
MODIFIER
chr2
C
T
TogoVar
218333302:splice
218333302:variant
goto
PNKDintron_variantc.237-6481C>T
GPBAR1
Testis
15.048
0.376
261391
a0001 a0005
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0008 others(1): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(8): Hide
a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0092 a0001c0001t0001g0116 a0001c0001t0001g0209 others(86): Hide
HG00099.hp1 HG00323.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 others(86): Hide
0.385
257
318
10
chr2_218333302_C_T_b38
+
MODIFIER
chr2
C
T
TogoVar
218333302:splice
218333302:variant
goto
PNKDintron_variantc.237-6481C>T
PNKD
Testis
8.701
-0.216
261391
a0001 a0005
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0008 others(1): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(8): Hide
a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0092 a0001c0001t0001g0116 a0001c0001t0001g0209 others(86): Hide
HG00099.hp1 HG00323.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 others(86): Hide
0.385
257
318
10
chr2_218333302_C_T_b38
+
MODIFIER
chr2
C
T
TogoVar
218333302:splice
218333302:variant
goto
PNKDintron_variantc.237-6481C>T
TMBIM1
Testis
8.539
-0.124
261391
a0001 a0005
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0008 others(1): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(8): Hide
a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0092 a0001c0001t0001g0116 a0001c0001t0001g0209 others(86): Hide
HG00099.hp1 HG00323.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 others(86): Hide
0.385
257
318
10
chr2_218333302_C_T_b38
+
MODIFIER
chr2
C
T
TogoVar
218333302:splice
218333302:variant
goto
PNKDintron_variantc.237-6481C>T
PNKD
Thyroid
11.683
-0.175
261391
a0001 a0005
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0008 others(1): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(8): Hide
a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0092 a0001c0001t0001g0116 a0001c0001t0001g0209 others(86): Hide
HG00099.hp1 HG00323.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 others(86): Hide
0.370
415
504
10
chr2_218333302_C_T_b38
+
MODIFIER
chr2
C
T
TogoVar
218333302:splice
218333302:variant
goto
PNKDintron_variantc.237-6481C>T
TMBIM1
Thyroid
3.565
-0.071
261391
a0001 a0005
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0008 others(1): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(8): Hide
a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0092 a0001c0001t0001g0116 a0001c0001t0001g0209 others(86): Hide
HG00099.hp1 HG00323.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 others(86): Hide
0.370
415
504
10
chr2_218333302_C_T_b38
+
MODIFIER
chr2
C
T
TogoVar
218333302:splice
218333302:variant
goto
PNKDintron_variantc.237-6481C>T
CATIP
Thyroid
6.911
-0.131
261391
a0001 a0005
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0008 others(1): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(8): Hide
a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0092 a0001c0001t0001g0116 a0001c0001t0001g0209 others(86): Hide
HG00099.hp1 HG00323.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 others(86): Hide
0.370
415
504
10
chr2_218333302_C_T_b38
+
MODIFIER
chr2
C
T
TogoVar
218333302:splice
218333302:variant
goto
PNKDintron_variantc.237-6481C>T
PNKD
Whole_Blood
4.577
-0.107
261391
a0001 a0005
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0008 others(1): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(8): Hide
a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0092 a0001c0001t0001g0116 a0001c0001t0001g0209 others(86): Hide
HG00099.hp1 HG00323.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 others(86): Hide
0.363
479
581
10
chr2_218333302_C_T_b38
+
MODIFIER
chr2
C
T
TogoVar
218333302:splice
218333302:variant
goto
PNKDintron_variantc.237-6481C>T
CATIP
Whole_Blood
6.446
-0.116
261391
a0001 a0005
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0008 others(1): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(8): Hide
a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0092 a0001c0001t0001g0116 a0001c0001t0001g0209 others(86): Hide
HG00099.hp1 HG00323.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 others(86): Hide
0.363
479
581
10
chr2_218333302_C_T_b38
+
MODIFIER
chr2
C
T
TogoVar
218338516:splice
218338516:variant
goto
PNKDintron_variantc.237-1267T>C
RUFY4
Skin_Not_Sun_Exposed_Suprapubic
4.232
0.177
351392
a0001 a0002 a0005
a0001c0001 a0001c0004 a0001c0008 a0002c0003 a0005c0010
a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 others(8): Hide
a0001c0001t0001g0078 a0001c0001t0003g0016 a0001c0001t0003g0021 a0001c0001t0003g0024 a0001c0001t0003g0025 others(87): Hide
HG00099.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 others(88): Hide
0.242
270
314
10
chr2_218338516_T_C_b38
+
MODIFIER
chr2
T
C
TogoVar
218338516:splice
218338516:variant
goto
PNKDintron_variantc.237-1267T>C
CATIP
Spleen
6.066
-0.244
351392
a0001 a0002 a0005
a0001c0001 a0001c0004 a0001c0008 a0002c0003 a0005c0010
a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 others(8): Hide
a0001c0001t0001g0078 a0001c0001t0003g0016 a0001c0001t0003g0021 a0001c0001t0003g0024 a0001c0001t0003g0025 others(87): Hide
HG00099.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 others(88): Hide
0.217
107
120
10
chr2_218338516_T_C_b38
+
MODIFIER
chr2
T
C
TogoVar
218338516:splice
218338516:variant
goto
PNKDintron_variantc.237-1267T>C
CATIP
Whole_Blood
10.026
-0.160
351392
a0001 a0002 a0005
a0001c0001 a0001c0004 a0001c0008 a0002c0003 a0005c0010
a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 others(8): Hide
a0001c0001t0001g0078 a0001c0001t0003g0016 a0001c0001t0003g0021 a0001c0001t0003g0024 a0001c0001t0003g0025 others(87): Hide
HG00099.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 others(88): Hide
0.231
315
369
10
chr2_218338516_T_C_b38
+
MODIFIER
chr2
T
C
TogoVar
218338516:splice
218338516:variant
goto
PNKDintron_variantc.237-1267T>C
SLC11A1
Whole_Blood
9.784
-0.105
351392
a0001 a0002 a0005
a0001c0001 a0001c0004 a0001c0008 a0002c0003 a0005c0010
a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 others(8): Hide
a0001c0001t0001g0078 a0001c0001t0003g0016 a0001c0001t0003g0021 a0001c0001t0003g0024 a0001c0001t0003g0025 others(87): Hide
HG00099.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 others(88): Hide
0.231
315
369
10
chr2_218338516_T_C_b38
+
MODIFIER
chr2
T
C
TogoVar
218328032:splice
218328032:variant
goto
PNKDintron_variantc.237-11751G>A
ARPC2
Adipose_Subcutaneous
19.356
-0.188
2720155
a0001 a0002
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 others(2): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(15): Hide
a0001c0001t0001g0084 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 others(150): Hide
HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00609.hp1 HG00609.hp2 others(151): Hide
0.451
494
641
10
chr2_218328032_G_A_b38
+
MODIFIER
chr2
G
A
TogoVar
218328032:splice
218328032:variant
goto
PNKDintron_variantc.237-11751G>A
AAMP
Adipose_Subcutaneous
4.885
-0.068
2720155
a0001 a0002
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 others(2): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(15): Hide
a0001c0001t0001g0084 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 others(150): Hide
HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00609.hp1 HG00609.hp2 others(151): Hide
0.451
494
641
10
chr2_218328032_G_A_b38
+
MODIFIER
chr2
G
A
TogoVar
218328032:splice
218328032:variant
goto
PNKDintron_variantc.237-11751G>A
PNKD
Adipose_Subcutaneous
8.100
-0.134
2720155
a0001 a0002
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 others(2): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(15): Hide
a0001c0001t0001g0084 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 others(150): Hide
HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00609.hp1 HG00609.hp2 others(151): Hide
0.451
494
641
10
chr2_218328032_G_A_b38
+
MODIFIER
chr2
G
A
TogoVar
218328032:splice
218328032:variant
goto
PNKDintron_variantc.237-11751G>A
TMBIM1
Adipose_Subcutaneous
12.931
-0.114
2720155
a0001 a0002
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 others(2): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(15): Hide
a0001c0001t0001g0084 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 others(150): Hide
HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00609.hp1 HG00609.hp2 others(151): Hide
0.451
494
641
10
chr2_218328032_G_A_b38
+
MODIFIER
chr2
G
A
TogoVar
218328032:splice
218328032:variant
goto
PNKDintron_variantc.237-11751G>A
PNKD
Adipose_Visceral_Omentum
12.396
-0.157
2720155
a0001 a0002
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 others(2): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(15): Hide
a0001c0001t0001g0084 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 others(150): Hide
HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00609.hp1 HG00609.hp2 others(151): Hide
0.447
407
522
10
chr2_218328032_G_A_b38
+
MODIFIER
chr2
G
A
TogoVar
218328032:splice
218328032:variant
goto
PNKDintron_variantc.237-11751G>A
TMBIM1
Adipose_Visceral_Omentum
10.183
-0.110
2720155
a0001 a0002
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 others(2): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(15): Hide
a0001c0001t0001g0084 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 others(150): Hide
HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00609.hp1 HG00609.hp2 others(151): Hide
0.447
407
522
10
chr2_218328032_G_A_b38
+
MODIFIER
chr2
G
A
TogoVar
218328032:splice
218328032:variant
goto
PNKDintron_variantc.237-11751G>A
PNKD
Adrenal_Gland
20.145
-0.427
2720155
a0001 a0002
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 others(2): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(15): Hide
a0001c0001t0001g0084 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 others(150): Hide
HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00609.hp1 HG00609.hp2 others(151): Hide
0.483
218
285
10
chr2_218328032_G_A_b38
+
MODIFIER
chr2
G
A
TogoVar
218328032:splice
218328032:variant
goto
PNKDintron_variantc.237-11751G>A
TMBIM1
Artery_Aorta
25.726
-0.314
2720155
a0001 a0002
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 others(2): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(15): Hide
a0001c0001t0001g0084 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 others(150): Hide
HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00609.hp1 HG00609.hp2 others(151): Hide
0.434
324
410
10
chr2_218328032_G_A_b38
+
MODIFIER
chr2
G
A
TogoVar
218328032:splice
218328032:variant
goto
PNKDintron_variantc.237-11751G>A
TMBIM1
Artery_Coronary
6.479
-0.218
2720155
a0001 a0002
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 others(2): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(15): Hide
a0001c0001t0001g0084 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 others(150): Hide
HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00609.hp1 HG00609.hp2 others(151): Hide
0.446
193
239
10
chr2_218328032_G_A_b38
+
MODIFIER
chr2
G
A
TogoVar
218328032:splice
218328032:variant
goto
PNKDintron_variantc.237-11751G>A
AAMP
Artery_Tibial
3.688
-0.068
2720155
a0001 a0002
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 others(2): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(15): Hide
a0001c0001t0001g0084 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 others(150): Hide
HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00609.hp1 HG00609.hp2 others(151): Hide
0.460
488
634
10
chr2_218328032_G_A_b38
+
MODIFIER
chr2
G
A
TogoVar
218328032:splice
218328032:variant
goto
PNKDintron_variantc.237-11751G>A
TMBIM1
Artery_Tibial
29.295
-0.214
2720155
a0001 a0002
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 others(2): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(15): Hide
a0001c0001t0001g0084 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 others(150): Hide
HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00609.hp1 HG00609.hp2 others(151): Hide
0.460
488
634
10
chr2_218328032_G_A_b38
+
MODIFIER
chr2
G
A
TogoVar
218328032:splice
218328032:variant
goto
PNKDintron_variantc.237-11751G>A
PNKD
Brain_Caudate_basal_ganglia
8.275
0.169
2720155
a0001 a0002
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 others(2): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(15): Hide
a0001c0001t0001g0084 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 others(150): Hide
HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00609.hp1 HG00609.hp2 others(151): Hide
0.426
202
254
10
chr2_218328032_G_A_b38
+
MODIFIER
chr2
G
A
TogoVar
218328032:splice
218328032:variant
goto
PNKDintron_variantc.237-11751G>A
PNKD
Brain_Cortex
4.740
0.131
2720155
a0001 a0002
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 others(2): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(15): Hide
a0001c0001t0001g0084 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 others(150): Hide
HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00609.hp1 HG00609.hp2 others(151): Hide
0.422
178
226
10
chr2_218328032_G_A_b38
+
MODIFIER
chr2
G
A
TogoVar
218328032:splice
218328032:variant
goto
PNKDintron_variantc.237-11751G>A
PNKD
Brain_Frontal_Cortex_BA9
4.496
0.110
2720155
a0001 a0002
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 others(2): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(15): Hide
a0001c0001t0001g0084 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 others(150): Hide
HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00609.hp1 HG00609.hp2 others(151): Hide
0.422
182
226
10
chr2_218328032_G_A_b38
+
MODIFIER
chr2
G
A
TogoVar
218328032:splice
218328032:variant
goto
PNKDintron_variantc.237-11751G>A
PNKD
Brain_Nucleus_accumbens_basal_ganglia
9.648
0.202
2720155
a0001 a0002
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 others(2): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(15): Hide
a0001c0001t0001g0084 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 others(150): Hide
HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00609.hp1 HG00609.hp2 others(151): Hide
0.419
189
238
10
chr2_218328032_G_A_b38
+
MODIFIER
chr2
G
A
TogoVar
218328032:splice
218328032:variant
goto
PNKDintron_variantc.237-11751G>A
PNKD
Brain_Putamen_basal_ganglia
7.533
0.185
2720155
a0001 a0002
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 others(2): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(15): Hide
a0001c0001t0001g0084 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 others(150): Hide
HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00609.hp1 HG00609.hp2 others(151): Hide
0.431
173
218
10
chr2_218328032_G_A_b38
+
MODIFIER
chr2
G
A
TogoVar
218328032:splice
218328032:variant
goto
PNKDintron_variantc.237-11751G>A
ARPC2
Breast_Mammary_Tissue
4.873
-0.070
2720155
a0001 a0002
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 others(2): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(15): Hide
a0001c0001t0001g0084 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 others(150): Hide
HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00609.hp1 HG00609.hp2 others(151): Hide
0.448
352
458
10
chr2_218328032_G_A_b38
+
MODIFIER
chr2
G
A
TogoVar
218328032:splice
218328032:variant
goto
PNKDintron_variantc.237-11751G>A
PNKD
Breast_Mammary_Tissue
4.943
-0.109
2720155
a0001 a0002
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 others(2): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(15): Hide
a0001c0001t0001g0084 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 others(150): Hide
HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00609.hp1 HG00609.hp2 others(151): Hide
0.448
352
458
10
chr2_218328032_G_A_b38
+
MODIFIER
chr2
G
A
TogoVar
218328032:splice
218328032:variant
goto
PNKDintron_variantc.237-11751G>A
TMBIM1
Breast_Mammary_Tissue
5.639
-0.074
2720155
a0001 a0002
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 others(2): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(15): Hide
a0001c0001t0001g0084 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 others(150): Hide
HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00609.hp1 HG00609.hp2 others(151): Hide
0.448
352
458
10
chr2_218328032_G_A_b38
+
MODIFIER
chr2
G
A
TogoVar
218328032:splice
218328032:variant
goto
PNKDintron_variantc.237-11751G>A
PNKD
Cells_Cultured_fibroblasts
4.870
-0.106
2720155
a0001 a0002
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 others(2): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(15): Hide
a0001c0001t0001g0084 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 others(150): Hide
HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00609.hp1 HG00609.hp2 others(151): Hide
0.462
468
600
10
chr2_218328032_G_A_b38
+
MODIFIER
chr2
G
A
TogoVar
218328032:splice
218328032:variant
goto
PNKDintron_variantc.237-11751G>A
TMBIM1
Cells_Cultured_fibroblasts
33.971
-0.256
2720155
a0001 a0002
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 others(2): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(15): Hide
a0001c0001t0001g0084 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 others(150): Hide
HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00609.hp1 HG00609.hp2 others(151): Hide
0.462
468
600
10
chr2_218328032_G_A_b38
+
MODIFIER
chr2
G
A
TogoVar
218328032:splice
218328032:variant
goto
PNKDintron_variantc.237-11751G>A
TMBIM1
Cells_EBV-transformed_lymphocytes
8.272
-0.209
2720155
a0001 a0002
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 others(2): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(15): Hide
a0001c0001t0001g0084 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 others(150): Hide
HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00609.hp1 HG00609.hp2 others(151): Hide
0.479
237
312
10
chr2_218328032_G_A_b38
+
MODIFIER
chr2
G
A
TogoVar
218328032:splice
218328032:variant
goto
PNKDintron_variantc.237-11751G>A
AAMP
Colon_Sigmoid
4.440
-0.108
2720155
a0001 a0002
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 others(2): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(15): Hide
a0001c0001t0001g0084 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 others(150): Hide
HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00609.hp1 HG00609.hp2 others(151): Hide
0.443
292
370
10
chr2_218328032_G_A_b38
+
MODIFIER
chr2
G
A
TogoVar
218328032:splice
218328032:variant
goto
PNKDintron_variantc.237-11751G>A
TMBIM1
Colon_Sigmoid
7.083
-0.167
2720155
a0001 a0002
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 others(2): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(15): Hide
a0001c0001t0001g0084 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 others(150): Hide
HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00609.hp1 HG00609.hp2 others(151): Hide
0.443
292
370
10
chr2_218328032_G_A_b38
+
MODIFIER
chr2
G
A
TogoVar
218328032:splice
218328032:variant
goto
PNKDintron_variantc.237-11751G>A
TMBIM1
Colon_Transverse
8.867
-0.117
2720155
a0001 a0002
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 others(2): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(15): Hide
a0001c0001t0001g0084 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 others(150): Hide
HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00609.hp1 HG00609.hp2 others(151): Hide
0.462
338
442
10
chr2_218328032_G_A_b38
+
MODIFIER
chr2
G
A
TogoVar
218328032:splice
218328032:variant
goto
PNKDintron_variantc.237-11751G>A
TMBIM1
Esophagus_Gastroesophageal_Junction
4.127
-0.107
2720155
a0001 a0002
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 others(2): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(15): Hide
a0001c0001t0001g0084 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 others(150): Hide
HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00609.hp1 HG00609.hp2 others(151): Hide
0.462
290
372
10
chr2_218328032_G_A_b38
+
MODIFIER
chr2
G
A
TogoVar
218328032:splice
218328032:variant
goto
PNKDintron_variantc.237-11751G>A
TMBIM1
Esophagus_Mucosa
12.629
-0.098
2720155
a0001 a0002
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 others(2): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(15): Hide
a0001c0001t0001g0084 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 others(150): Hide
HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00609.hp1 HG00609.hp2 others(151): Hide
0.457
434
561
10
chr2_218328032_G_A_b38
+
MODIFIER
chr2
G
A
TogoVar
218328032:splice
218328032:variant
goto
PNKDintron_variantc.237-11751G>A
TMBIM1
Esophagus_Muscularis
12.780
-0.153
2720155
a0001 a0002
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 others(2): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(15): Hide
a0001c0001t0001g0084 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 others(150): Hide
HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00609.hp1 HG00609.hp2 others(151): Hide
0.458
398
514
10
chr2_218328032_G_A_b38
+
MODIFIER
chr2
G
A
TogoVar
218328032:splice
218328032:variant
goto
PNKDintron_variantc.237-11751G>A
ARPC2
Heart_Atrial_Appendage
4.710
-0.105
2720155
a0001 a0002
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 others(2): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(15): Hide
a0001c0001t0001g0084 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 others(150): Hide
HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00609.hp1 HG00609.hp2 others(151): Hide
0.447
323
411
10
chr2_218328032_G_A_b38
+
MODIFIER
chr2
G
A
TogoVar
218328032:splice
218328032:variant
goto
PNKDintron_variantc.237-11751G>A
GPBAR1
Heart_Atrial_Appendage
8.911
-0.268
2720155
a0001 a0002
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 others(2): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(15): Hide
a0001c0001t0001g0084 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 others(150): Hide
HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00609.hp1 HG00609.hp2 others(151): Hide
0.447
323
411
10
chr2_218328032_G_A_b38
+
MODIFIER
chr2
G
A
TogoVar
218328032:splice
218328032:variant
goto
PNKDintron_variantc.237-11751G>A
AAMP
Heart_Atrial_Appendage
5.741
-0.137
2720155
a0001 a0002
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 others(2): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(15): Hide
a0001c0001t0001g0084 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 others(150): Hide
HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00609.hp1 HG00609.hp2 others(151): Hide
0.447
323
411
10
chr2_218328032_G_A_b38
+
MODIFIER
chr2
G
A
TogoVar
218328032:splice
218328032:variant
goto
PNKDintron_variantc.237-11751G>A
PNKD
Heart_Atrial_Appendage
13.927
-0.217
2720155
a0001 a0002
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 others(2): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(15): Hide
a0001c0001t0001g0084 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 others(150): Hide
HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00609.hp1 HG00609.hp2 others(151): Hide
0.447
323
411
10
chr2_218328032_G_A_b38
+
MODIFIER
chr2
G
A
TogoVar
218328032:splice
218328032:variant
goto
PNKDintron_variantc.237-11751G>A
TMBIM1
Heart_Atrial_Appendage
30.071
-0.345
2720155
a0001 a0002
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 others(2): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(15): Hide
a0001c0001t0001g0084 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 others(150): Hide
HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00609.hp1 HG00609.hp2 others(151): Hide
0.447
323
411
10
chr2_218328032_G_A_b38
+
MODIFIER
chr2
G
A
TogoVar
218328032:splice
218328032:variant
goto
PNKDintron_variantc.237-11751G>A
TMBIM1
Heart_Left_Ventricle
16.199
-0.230
2720155
a0001 a0002
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 others(2): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(15): Hide
a0001c0001t0001g0084 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 others(150): Hide
HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00609.hp1 HG00609.hp2 others(151): Hide
0.447
319
402
10
chr2_218328032_G_A_b38
+
MODIFIER
chr2
G
A
TogoVar
218328032:splice
218328032:variant
goto
PNKDintron_variantc.237-11751G>A
PNKD
Kidney_Cortex
6.632
-0.451
2720155
a0001 a0002
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 others(2): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(15): Hide
a0001c0001t0001g0084 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 others(150): Hide
HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00609.hp1 HG00609.hp2 others(151): Hide
0.471
75
97
10
chr2_218328032_G_A_b38
+
MODIFIER
chr2
G
A
TogoVar
218328032:splice
218328032:variant
goto
PNKDintron_variantc.237-11751G>A
PNKD
Liver
6.975
-0.224
2720155
a0001 a0002
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 others(2): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(15): Hide
a0001c0001t0001g0084 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 others(150): Hide
HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00609.hp1 HG00609.hp2 others(151): Hide
0.467
187
244
10
chr2_218328032_G_A_b38
+
MODIFIER
chr2
G
A
TogoVar
218328032:splice
218328032:variant
goto
PNKDintron_variantc.237-11751G>A
ARPC2
Lung
17.485
-0.161
2720155
a0001 a0002
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 others(2): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(15): Hide
a0001c0001t0001g0084 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 others(150): Hide
HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00609.hp1 HG00609.hp2 others(151): Hide
0.438
412
526
10
chr2_218328032_G_A_b38
+
MODIFIER
chr2
G
A
TogoVar
218328032:splice
218328032:variant
goto
PNKDintron_variantc.237-11751G>A
PNKD
Lung
8.024
-0.109
2720155
a0001 a0002
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 others(2): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(15): Hide
a0001c0001t0001g0084 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 others(150): Hide
HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00609.hp1 HG00609.hp2 others(151): Hide
0.438
412
526
10
chr2_218328032_G_A_b38
+
MODIFIER
chr2
G
A
TogoVar
218328032:splice
218328032:variant
goto
PNKDintron_variantc.237-11751G>A
TMBIM1
Lung
7.176
-0.122
2720155
a0001 a0002
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 others(2): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(15): Hide
a0001c0001t0001g0084 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 others(150): Hide
HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00609.hp1 HG00609.hp2 others(151): Hide
0.438
412
526
10
chr2_218328032_G_A_b38
+
MODIFIER
chr2
G
A
TogoVar
218328032:splice
218328032:variant
goto
PNKDintron_variantc.237-11751G>A
ARPC2
Muscle_Skeletal
30.003
-0.249
2720155
a0001 a0002
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 others(2): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(15): Hide
a0001c0001t0001g0084 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 others(150): Hide
HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00609.hp1 HG00609.hp2 others(151): Hide
0.455
572
742
10
chr2_218328032_G_A_b38
+
MODIFIER
chr2
G
A
TogoVar
218328032:splice
218328032:variant
goto
PNKDintron_variantc.237-11751G>A
TMBIM1
Muscle_Skeletal
15.744
-0.186
2720155
a0001 a0002
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 others(2): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(15): Hide
a0001c0001t0001g0084 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 others(150): Hide
HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00609.hp1 HG00609.hp2 others(151): Hide
0.455
572
742
10
chr2_218328032_G_A_b38
+
MODIFIER
chr2
G
A
TogoVar
218328032:splice
218328032:variant
goto
PNKDintron_variantc.237-11751G>A
ARPC2
Nerve_Tibial
21.176
-0.213
2720155
a0001 a0002
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 others(2): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(15): Hide
a0001c0001t0001g0084 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 others(150): Hide
HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00609.hp1 HG00609.hp2 others(151): Hide
0.445
463
594
10
chr2_218328032_G_A_b38
+
MODIFIER
chr2
G
A
TogoVar
218328032:splice
218328032:variant
goto
PNKDintron_variantc.237-11751G>A
GPBAR1
Nerve_Tibial
3.735
-0.103
2720155
a0001 a0002
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 others(2): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(15): Hide
a0001c0001t0001g0084 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 others(150): Hide
HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00609.hp1 HG00609.hp2 others(151): Hide
0.445
463
594
10
chr2_218328032_G_A_b38
+
MODIFIER
chr2
G
A
TogoVar
218328032:splice
218328032:variant
goto
PNKDintron_variantc.237-11751G>A
AAMP
Nerve_Tibial
6.142
-0.077
2720155
a0001 a0002
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 others(2): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(15): Hide
a0001c0001t0001g0084 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 others(150): Hide
HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00609.hp1 HG00609.hp2 others(151): Hide
0.445
463
594
10
chr2_218328032_G_A_b38
+
MODIFIER
chr2
G
A
TogoVar
218328032:splice
218328032:variant
goto
PNKDintron_variantc.237-11751G>A
TMBIM1
Nerve_Tibial
22.062
-0.154
2720155
a0001 a0002
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 others(2): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(15): Hide
a0001c0001t0001g0084 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 others(150): Hide
HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00609.hp1 HG00609.hp2 others(151): Hide
0.445
463
594
10
chr2_218328032_G_A_b38
+
MODIFIER
chr2
G
A
TogoVar
218328032:splice
218328032:variant
goto
PNKDintron_variantc.237-11751G>A
ARPC2
Pancreas
8.428
-0.190
2720155
a0001 a0002
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 others(2): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(15): Hide
a0001c0001t0001g0084 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 others(150): Hide
HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00609.hp1 HG00609.hp2 others(151): Hide
0.475
265
344
10
chr2_218328032_G_A_b38
+
MODIFIER
chr2
G
A
TogoVar
218328032:splice
218328032:variant
goto
PNKDintron_variantc.237-11751G>A
GPBAR1
Pituitary
6.276
-0.314
2720155
a0001 a0002
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 others(2): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(15): Hide
a0001c0001t0001g0084 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 others(150): Hide
HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00609.hp1 HG00609.hp2 others(151): Hide
0.395
203
246
10
chr2_218328032_G_A_b38
+
MODIFIER
chr2
G
A
TogoVar
218328032:splice
218328032:variant
goto
PNKDintron_variantc.237-11751G>A
PNKD
Pituitary
21.459
-0.427
2720155
a0001 a0002
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 others(2): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(15): Hide
a0001c0001t0001g0084 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 others(150): Hide
HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00609.hp1 HG00609.hp2 others(151): Hide
0.395
203
246
10
chr2_218328032_G_A_b38
+
MODIFIER
chr2
G
A
TogoVar
218328032:splice
218328032:variant
goto
PNKDintron_variantc.237-11751G>A
TMBIM1
Pituitary
14.790
-0.286
2720155
a0001 a0002
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 others(2): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(15): Hide
a0001c0001t0001g0084 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 others(150): Hide
HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00609.hp1 HG00609.hp2 others(151): Hide
0.395
203
246
10
chr2_218328032_G_A_b38
+
MODIFIER
chr2
G
A
TogoVar
218328032:splice
218328032:variant
goto
PNKDintron_variantc.237-11751G>A
ARPC2
Skin_Not_Sun_Exposed_Suprapubic
6.684
-0.102
2720155
a0001 a0002
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 others(2): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(15): Hide
a0001c0001t0001g0084 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 others(150): Hide
HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00609.hp1 HG00609.hp2 others(151): Hide
0.454
451
589
10
chr2_218328032_G_A_b38
+
MODIFIER
chr2
G
A
TogoVar
218328032:splice
218328032:variant
goto
PNKDintron_variantc.237-11751G>A
AAMP
Skin_Not_Sun_Exposed_Suprapubic
5.881
-0.087
2720155
a0001 a0002
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 others(2): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(15): Hide
a0001c0001t0001g0084 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 others(150): Hide
HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00609.hp1 HG00609.hp2 others(151): Hide
0.454
451
589
10
chr2_218328032_G_A_b38
+
MODIFIER
chr2
G
A
TogoVar
218328032:splice
218328032:variant
goto
PNKDintron_variantc.237-11751G>A
PNKD
Skin_Not_Sun_Exposed_Suprapubic
48.670
-0.537
2720155
a0001 a0002
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 others(2): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(15): Hide
a0001c0001t0001g0084 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 others(150): Hide
HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00609.hp1 HG00609.hp2 others(151): Hide
0.454
451
589
10
chr2_218328032_G_A_b38
+
MODIFIER
chr2
G
A
TogoVar
218328032:splice
218328032:variant
goto
PNKDintron_variantc.237-11751G>A
ARPC2
Skin_Sun_Exposed_Lower_leg
6.007
-0.073
2720155
a0001 a0002
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 others(2): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(15): Hide
a0001c0001t0001g0084 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 others(150): Hide
HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00609.hp1 HG00609.hp2 others(151): Hide
0.445
521
669
10
chr2_218328032_G_A_b38
+
MODIFIER
chr2
G
A
TogoVar
218328032:splice
218328032:variant
goto
PNKDintron_variantc.237-11751G>A
GPBAR1
Skin_Sun_Exposed_Lower_leg
5.178
-0.145
2720155
a0001 a0002
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 others(2): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(15): Hide
a0001c0001t0001g0084 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 others(150): Hide
HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00609.hp1 HG00609.hp2 others(151): Hide
0.445
521
669
10
chr2_218328032_G_A_b38
+
MODIFIER
chr2
G
A
TogoVar
218328032:splice
218328032:variant
goto
PNKDintron_variantc.237-11751G>A
AAMP
Skin_Sun_Exposed_Lower_leg
3.815
-0.052
2720155
a0001 a0002
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 others(2): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(15): Hide
a0001c0001t0001g0084 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 others(150): Hide
HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00609.hp1 HG00609.hp2 others(151): Hide
0.445
521
669
10
chr2_218328032_G_A_b38
+
MODIFIER
chr2
G
A
TogoVar
218328032:splice
218328032:variant
goto
PNKDintron_variantc.237-11751G>A
PNKD
Skin_Sun_Exposed_Lower_leg
72.139
-0.538
2720155
a0001 a0002
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 others(2): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(15): Hide
a0001c0001t0001g0084 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 others(150): Hide
HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00609.hp1 HG00609.hp2 others(151): Hide
0.445
521
669
10
chr2_218328032_G_A_b38
+
MODIFIER
chr2
G
A
TogoVar
218328032:splice
218328032:variant
goto
PNKDintron_variantc.237-11751G>A
ARPC2
Spleen
13.668
-0.185
2720155
a0001 a0002
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 others(2): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(15): Hide
a0001c0001t0001g0084 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 others(150): Hide
HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00609.hp1 HG00609.hp2 others(151): Hide
0.464
199
257
10
chr2_218328032_G_A_b38
+
MODIFIER
chr2
G
A
TogoVar
218328032:splice
218328032:variant
goto
PNKDintron_variantc.237-11751G>A
PNKD
Spleen
11.520
-0.308
2720155
a0001 a0002
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 others(2): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(15): Hide
a0001c0001t0001g0084 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 others(150): Hide
HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00609.hp1 HG00609.hp2 others(151): Hide
0.464
199
257
10
chr2_218328032_G_A_b38
+
MODIFIER
chr2
G
A
TogoVar
218328032:splice
218328032:variant
goto
PNKDintron_variantc.237-11751G>A
GPBAR1
Testis
50.016
0.634
2720155
a0001 a0002
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 others(2): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(15): Hide
a0001c0001t0001g0084 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 others(150): Hide
HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00609.hp1 HG00609.hp2 others(151): Hide
0.465
292
384
10
chr2_218328032_G_A_b38
+
MODIFIER
chr2
G
A
TogoVar
218328032:splice
218328032:variant
goto
PNKDintron_variantc.237-11751G>A
PNKD
Testis
21.323
-0.336
2720155
a0001 a0002
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 others(2): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(15): Hide
a0001c0001t0001g0084 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 others(150): Hide
HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00609.hp1 HG00609.hp2 others(151): Hide
0.465
292
384
10
chr2_218328032_G_A_b38
+
MODIFIER
chr2
G
A
TogoVar
218328032:splice
218328032:variant
goto
PNKDintron_variantc.237-11751G>A
TMBIM1
Testis
14.712
-0.164
2720155
a0001 a0002
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 others(2): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(15): Hide
a0001c0001t0001g0084 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 others(150): Hide
HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00609.hp1 HG00609.hp2 others(151): Hide
0.465
292
384
10
chr2_218328032_G_A_b38
+
MODIFIER
chr2
G
A
TogoVar
218328032:splice
218328032:variant
goto
PNKDintron_variantc.237-11751G>A
ARPC2
Thyroid
7.526
-0.105
2720155
a0001 a0002
a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 others(2): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(15): Hide
a0001c0001t0001g0084 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 others(150): Hide
HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00609.hp1 HG00609.hp2 others(151): Hide
0.450
475
613
10
chr2_218328032_G_A_b38
+
MODIFIER
chr2
G
A
TogoVar