88032826:splice
88032826:variant
goto
C12orf50upstream_gene_variantc.-3595A>C< others(4): Hide
CEP290
Adipose_Subcutaneous
10.272
-0.239
7811176
a0001 a0002 a0004 a0005 a0006 others(2): Hide
a0001c0001 a0002c0002 a0002c0003 a0004c0005 a0005c0006 others(3): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(6): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(171): Hide
HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 others(226): Hide
0.911
119
126
10
chr12_88032826_T_G_b38
-
MODIFIER
chr12
T
G
TogoVar
88032826:splice
88032826:variant
goto
C12orf50upstream_gene_variantc.-3595A>C< others(4): Hide
CEP290
Artery_Aorta
3.769
-0.223
7811176
a0001 a0002 a0004 a0005 a0006 others(2): Hide
a0001c0001 a0002c0002 a0002c0003 a0004c0005 a0005c0006 others(3): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(6): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(171): Hide
HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 others(226): Hide
0.931
61
65
10
chr12_88032826_T_G_b38
-
MODIFIER
chr12
T
G
TogoVar
88032826:splice
88032826:variant
goto
C12orf50upstream_gene_variantc.-3595A>C< others(4): Hide
CEP290
Artery_Tibial
4.236
-0.168
7811176
a0001 a0002 a0004 a0005 a0006 others(2): Hide
a0001c0001 a0002c0002 a0002c0003 a0004c0005 a0005c0006 others(3): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(6): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(171): Hide
HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 others(226): Hide
0.914
113
119
10
chr12_88032826_T_G_b38
-
MODIFIER
chr12
T
G
TogoVar
88032826:splice
88032826:variant
goto
C12orf50upstream_gene_variantc.-3595A>C< others(4): Hide
CEP290
Breast_Mammary_Tissue
4.262
-0.186
7811176
a0001 a0002 a0004 a0005 a0006 others(2): Hide
a0001c0001 a0002c0002 a0002c0003 a0004c0005 a0005c0006 others(3): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(6): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(171): Hide
HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 others(226): Hide
0.914
85
88
10
chr12_88032826_T_G_b38
-
MODIFIER
chr12
T
G
TogoVar
88032826:splice
88032826:variant
goto
C12orf50upstream_gene_variantc.-3595A>C< others(4): Hide
TMTC3
Cells_Cultured_fibroblasts
3.829
-0.141
7811176
a0001 a0002 a0004 a0005 a0006 others(2): Hide
a0001c0001 a0002c0002 a0002c0003 a0004c0005 a0005c0006 others(3): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(6): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(171): Hide
HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 others(226): Hide
0.917
103
108
10
chr12_88032826_T_G_b38
-
MODIFIER
chr12
T
G
TogoVar
88032826:splice
88032826:variant
goto
C12orf50upstream_gene_variantc.-3595A>C< others(4): Hide
CEP290
Heart_Atrial_Appendage
5.096
-0.257
7811176
a0001 a0002 a0004 a0005 a0006 others(2): Hide
a0001c0001 a0002c0002 a0002c0003 a0004c0005 a0005c0006 others(3): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(6): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(171): Hide
HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 others(226): Hide
0.923
66
71
10
chr12_88032826_T_G_b38
-
MODIFIER
chr12
T
G
TogoVar
88032826:splice
88032826:variant
goto
C12orf50upstream_gene_variantc.-3595A>C< others(4): Hide
RLIG1
Muscle_Skeletal
3.855
0.227
7811176
a0001 a0002 a0004 a0005 a0006 others(2): Hide
a0001c0001 a0002c0002 a0002c0003 a0004c0005 a0005c0006 others(3): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(6): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(171): Hide
HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 others(226): Hide
0.919
125
132
10
chr12_88032826_T_G_b38
-
MODIFIER
chr12
T
G
TogoVar
88032826:splice
88032826:variant
goto
C12orf50upstream_gene_variantc.-3595A>C< others(4): Hide
CEP290
Nerve_Tibial
10.043
-0.269
7811176
a0001 a0002 a0004 a0005 a0006 others(2): Hide
a0001c0001 a0002c0002 a0002c0003 a0004c0005 a0005c0006 others(3): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(6): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(171): Hide
HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 others(226): Hide
0.922
100
104
10
chr12_88032826_T_G_b38
-
MODIFIER
chr12
T
G
TogoVar
88032826:splice
88032826:variant
goto
C12orf50upstream_gene_variantc.-3595A>C< others(4): Hide
RLIG1
Skin_Not_Sun_Exposed_Suprapubic
6.088
0.156
7811176
a0001 a0002 a0004 a0005 a0006 others(2): Hide
a0001c0001 a0002c0002 a0002c0003 a0004c0005 a0005c0006 others(3): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(6): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(171): Hide
HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 others(226): Hide
0.914
103
111
10
chr12_88032826_T_G_b38
-
MODIFIER
chr12
T
G
TogoVar
88032826:splice
88032826:variant
goto
C12orf50upstream_gene_variantc.-3595A>C< others(4): Hide
TMTC3
Skin_Not_Sun_Exposed_Suprapubic
18.919
0.293
7811176
a0001 a0002 a0004 a0005 a0006 others(2): Hide
a0001c0001 a0002c0002 a0002c0003 a0004c0005 a0005c0006 others(3): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(6): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(171): Hide
HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 others(226): Hide
0.914
103
111
10
chr12_88032826_T_G_b38
-
MODIFIER
chr12
T
G
TogoVar
88032826:splice
88032826:variant
goto
C12orf50upstream_gene_variantc.-3595A>C< others(4): Hide
RLIG1
Skin_Sun_Exposed_Lower_leg
5.227
0.131
7811176
a0001 a0002 a0004 a0005 a0006 others(2): Hide
a0001c0001 a0002c0002 a0002c0003 a0004c0005 a0005c0006 others(3): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(6): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(171): Hide
HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 others(226): Hide
0.914
123
129
10
chr12_88032826_T_G_b38
-
MODIFIER
chr12
T
G
TogoVar
88032826:splice
88032826:variant
goto
C12orf50upstream_gene_variantc.-3595A>C< others(4): Hide
CEP290
Skin_Sun_Exposed_Lower_leg
4.951
0.161
7811176
a0001 a0002 a0004 a0005 a0006 others(2): Hide
a0001c0001 a0002c0002 a0002c0003 a0004c0005 a0005c0006 others(3): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(6): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(171): Hide
HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 others(226): Hide
0.914
123
129
10
chr12_88032826_T_G_b38
-
MODIFIER
chr12
T
G
TogoVar
88032826:splice
88032826:variant
goto
C12orf50upstream_gene_variantc.-3595A>C< others(4): Hide
TMTC3
Skin_Sun_Exposed_Lower_leg
23.828
0.296
7811176
a0001 a0002 a0004 a0005 a0006 others(2): Hide
a0001c0001 a0002c0002 a0002c0003 a0004c0005 a0005c0006 others(3): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(6): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(171): Hide
HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 others(226): Hide
0.914
123
129
10
chr12_88032826_T_G_b38
-
MODIFIER
chr12
T
G
TogoVar
88027759:splice
88027759:variant
goto
C12orf50intron_variantc.-108-689A>G
CEP290
Adipose_Subcutaneous
9.986
-0.231
7811175
a0001 a0002 a0004 a0005 a0006 others(2): Hide
a0001c0001 a0002c0002 a0002c0003 a0004c0005 a0005c0006 others(3): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(6): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(170): Hide
HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 others(225): Hide
0.909
122
129
10
chr12_88027759_T_C_b38
-
MODIFIER
chr12
T
C
TogoVar
88028179:splice
88028179:variant
goto
C12orf50intron_variantc.-108-1109G>Cothers(1): Hide
CEP290
Adipose_Subcutaneous
10.051
-0.231
7811175
a0001 a0002 a0004 a0005 a0006 others(2): Hide
a0001c0001 a0002c0002 a0002c0003 a0004c0005 a0005c0006 others(3): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(6): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(170): Hide
HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 others(225): Hide
0.909
122
129
10
chr12_88028179_C_G_b38
-
MODIFIER
chr12
C
G
TogoVar
88027759:splice
88027759:variant
goto
C12orf50intron_variantc.-108-689A>G
CEP290
Breast_Mammary_Tissue
3.712
-0.169
7811175
a0001 a0002 a0004 a0005 a0006 others(2): Hide
a0001c0001 a0002c0002 a0002c0003 a0004c0005 a0005c0006 others(3): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(6): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(170): Hide
HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 others(225): Hide
0.912
87
90
10
chr12_88027759_T_C_b38
-
MODIFIER
chr12
T
C
TogoVar
88027759:splice
88027759:variant
goto
C12orf50intron_variantc.-108-689A>G
TMTC3
Cells_Cultured_fibroblasts
3.620
-0.135
7811175
a0001 a0002 a0004 a0005 a0006 others(2): Hide
a0001c0001 a0002c0002 a0002c0003 a0004c0005 a0005c0006 others(3): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(6): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(170): Hide
HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 others(225): Hide
0.915
105
110
10
chr12_88027759_T_C_b38
-
MODIFIER
chr12
T
C
TogoVar
88028179:splice
88028179:variant
goto
C12orf50intron_variantc.-108-1109G>Cothers(1): Hide
TMTC3
Cells_Cultured_fibroblasts
3.734
-0.136
7811175
a0001 a0002 a0004 a0005 a0006 others(2): Hide
a0001c0001 a0002c0002 a0002c0003 a0004c0005 a0005c0006 others(3): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(6): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(170): Hide
HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 others(225): Hide
0.914
106
111
10
chr12_88028179_C_G_b38
-
MODIFIER
chr12
C
G
TogoVar
88027759:splice
88027759:variant
goto
C12orf50intron_variantc.-108-689A>G
CEP290
Heart_Atrial_Appendage
5.175
-0.255
7811175
a0001 a0002 a0004 a0005 a0006 others(2): Hide
a0001c0001 a0002c0002 a0002c0003 a0004c0005 a0005c0006 others(3): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(6): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(170): Hide
HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 others(225): Hide
0.922
67
72
10
chr12_88027759_T_C_b38
-
MODIFIER
chr12
T
C
TogoVar
88028179:splice
88028179:variant
goto
C12orf50intron_variantc.-108-1109G>Cothers(1): Hide
CEP290
Heart_Atrial_Appendage
5.585
-0.267
7811175
a0001 a0002 a0004 a0005 a0006 others(2): Hide
a0001c0001 a0002c0002 a0002c0003 a0004c0005 a0005c0006 others(3): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(6): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(170): Hide
HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 others(225): Hide
0.923
66
71
10
chr12_88028179_C_G_b38
-
MODIFIER
chr12
C
G
TogoVar
88027759:splice
88027759:variant
goto
C12orf50intron_variantc.-108-689A>G
CEP290
Nerve_Tibial
9.842
-0.266
7811175
a0001 a0002 a0004 a0005 a0006 others(2): Hide
a0001c0001 a0002c0002 a0002c0003 a0004c0005 a0005c0006 others(3): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(6): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(170): Hide
HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 others(225): Hide
0.922
100
104
10
chr12_88027759_T_C_b38
-
MODIFIER
chr12
T
C
TogoVar
88028179:splice
88028179:variant
goto
C12orf50intron_variantc.-108-1109G>Cothers(1): Hide
CEP290
Nerve_Tibial
9.562
-0.260
7811175
a0001 a0002 a0004 a0005 a0006 others(2): Hide
a0001c0001 a0002c0002 a0002c0003 a0004c0005 a0005c0006 others(3): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(6): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(170): Hide
HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 others(225): Hide
0.921
101
105
10
chr12_88028179_C_G_b38
-
MODIFIER
chr12
C
G
TogoVar
88027759:splice
88027759:variant
goto
C12orf50intron_variantc.-108-689A>G
RLIG1
Skin_Not_Sun_Exposed_Suprapubic
4.983
0.138
7811175
a0001 a0002 a0004 a0005 a0006 others(2): Hide
a0001c0001 a0002c0002 a0002c0003 a0004c0005 a0005c0006 others(3): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(6): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(170): Hide
HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 others(225): Hide
0.914
104
112
10
chr12_88027759_T_C_b38
-
MODIFIER
chr12
T
C
TogoVar
88028179:splice
88028179:variant
goto
C12orf50intron_variantc.-108-1109G>Cothers(1): Hide
RLIG1
Skin_Not_Sun_Exposed_Suprapubic
5.905
0.152
7811175
a0001 a0002 a0004 a0005 a0006 others(2): Hide
a0001c0001 a0002c0002 a0002c0003 a0004c0005 a0005c0006 others(3): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(6): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(170): Hide
HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 others(225): Hide
0.914
104
112
10
chr12_88028179_C_G_b38
-
MODIFIER
chr12
C
G
TogoVar
88027759:splice
88027759:variant
goto
C12orf50intron_variantc.-108-689A>G
TMTC3
Skin_Not_Sun_Exposed_Suprapubic
19.201
0.291
7811175
a0001 a0002 a0004 a0005 a0006 others(2): Hide
a0001c0001 a0002c0002 a0002c0003 a0004c0005 a0005c0006 others(3): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(6): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(170): Hide
HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 others(225): Hide
0.914
104
112
10
chr12_88027759_T_C_b38
-
MODIFIER
chr12
T
C
TogoVar
88028179:splice
88028179:variant
goto
C12orf50intron_variantc.-108-1109G>Cothers(1): Hide
TMTC3
Skin_Not_Sun_Exposed_Suprapubic
18.561
0.287
7811175
a0001 a0002 a0004 a0005 a0006 others(2): Hide
a0001c0001 a0002c0002 a0002c0003 a0004c0005 a0005c0006 others(3): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(6): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(170): Hide
HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 others(225): Hide
0.914
104
112
10
chr12_88028179_C_G_b38
-
MODIFIER
chr12
C
G
TogoVar
88027759:splice
88027759:variant
goto
C12orf50intron_variantc.-108-689A>G
RLIG1
Skin_Sun_Exposed_Lower_leg
4.630
0.121
7811175
a0001 a0002 a0004 a0005 a0006 others(2): Hide
a0001c0001 a0002c0002 a0002c0003 a0004c0005 a0005c0006 others(3): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(6): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(170): Hide
HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 others(225): Hide
0.913
125
131
10
chr12_88027759_T_C_b38
-
MODIFIER
chr12
T
C
TogoVar
88028179:splice
88028179:variant
goto
C12orf50intron_variantc.-108-1109G>Cothers(1): Hide
RLIG1
Skin_Sun_Exposed_Lower_leg
4.508
0.119
7811175
a0001 a0002 a0004 a0005 a0006 others(2): Hide
a0001c0001 a0002c0002 a0002c0003 a0004c0005 a0005c0006 others(3): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(6): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(170): Hide
HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 others(225): Hide
0.913
125
131
10
chr12_88028179_C_G_b38
-
MODIFIER
chr12
C
G
TogoVar
88027759:splice
88027759:variant
goto
C12orf50intron_variantc.-108-689A>G
CEP290
Skin_Sun_Exposed_Lower_leg
5.019
0.161
7811175
a0001 a0002 a0004 a0005 a0006 others(2): Hide
a0001c0001 a0002c0002 a0002c0003 a0004c0005 a0005c0006 others(3): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(6): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(170): Hide
HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 others(225): Hide
0.913
125
131
10
chr12_88027759_T_C_b38
-
MODIFIER
chr12
T
C
TogoVar
88028179:splice
88028179:variant
goto
C12orf50intron_variantc.-108-1109G>Cothers(1): Hide
CEP290
Skin_Sun_Exposed_Lower_leg
5.427
0.168
7811175
a0001 a0002 a0004 a0005 a0006 others(2): Hide
a0001c0001 a0002c0002 a0002c0003 a0004c0005 a0005c0006 others(3): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(6): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(170): Hide
HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 others(225): Hide
0.913
125
131
10
chr12_88028179_C_G_b38
-
MODIFIER
chr12
C
G
TogoVar
88027759:splice
88027759:variant
goto
C12orf50intron_variantc.-108-689A>G
TMTC3
Skin_Sun_Exposed_Lower_leg
22.091
0.282
7811175
a0001 a0002 a0004 a0005 a0006 others(2): Hide
a0001c0001 a0002c0002 a0002c0003 a0004c0005 a0005c0006 others(3): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(6): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(170): Hide
HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 others(225): Hide
0.913
125
131
10
chr12_88027759_T_C_b38
-
MODIFIER
chr12
T
C
TogoVar
88028179:splice
88028179:variant
goto
C12orf50intron_variantc.-108-1109G>Cothers(1): Hide
TMTC3
Skin_Sun_Exposed_Lower_leg
21.605
0.279
7811175
a0001 a0002 a0004 a0005 a0006 others(2): Hide
a0001c0001 a0002c0002 a0002c0003 a0004c0005 a0005c0006 others(3): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(6): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(170): Hide
HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 others(225): Hide
0.913
125
131
10
chr12_88028179_C_G_b38
-
MODIFIER
chr12
C
G
TogoVar
88032543:splice
88032543:variant
goto
C12orf50upstream_gene_variantc.-3312C>A< others(4): Hide
CEP290
Adipose_Subcutaneous
8.662
-0.233
101114190
a0001 a0002 a0003 a0004 a0005 others(5): Hide
a0001c0001 a0002c0002 a0002c0003 a0003c0004 a0004c0005 others(6): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(9): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(185): Hide
HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 others(246): Hide
0.930
96
99
10
chr12_88032543_G_T_b38
-
MODIFIER
chr12
G
T
TogoVar
88032543:splice
88032543:variant
goto
C12orf50upstream_gene_variantc.-3312C>A< others(4): Hide
CEP290
Artery_Aorta
4.260
-0.259
101114190
a0001 a0002 a0003 a0004 a0005 others(5): Hide
a0001c0001 a0002c0002 a0002c0003 a0003c0004 a0004c0005 others(6): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(9): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(185): Hide
HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 others(246): Hide
0.950
45
47
10
chr12_88032543_G_T_b38
-
MODIFIER
chr12
G
T
TogoVar
88032543:splice
88032543:variant
goto
C12orf50upstream_gene_variantc.-3312C>A< others(4): Hide
CEP290
Artery_Tibial
4.927
-0.189
101114190
a0001 a0002 a0003 a0004 a0005 others(5): Hide
a0001c0001 a0002c0002 a0002c0003 a0003c0004 a0004c0005 others(6): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(9): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(185): Hide
HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 others(246): Hide
0.931
91
95
10
chr12_88032543_G_T_b38
-
MODIFIER
chr12
G
T
TogoVar
88032543:splice
88032543:variant
goto
C12orf50upstream_gene_variantc.-3312C>A< others(4): Hide
CEP290
Heart_Atrial_Appendage
5.106
-0.270
101114190
a0001 a0002 a0003 a0004 a0005 others(5): Hide
a0001c0001 a0002c0002 a0002c0003 a0003c0004 a0004c0005 others(6): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(9): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(185): Hide
HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 others(246): Hide
0.939
53
56
10
chr12_88032543_G_T_b38
-
MODIFIER
chr12
G
T
TogoVar
88032543:splice
88032543:variant
goto
C12orf50upstream_gene_variantc.-3312C>A< others(4): Hide
CEP290
Nerve_Tibial
7.312
-0.236
101114190
a0001 a0002 a0003 a0004 a0005 others(5): Hide
a0001c0001 a0002c0002 a0002c0003 a0003c0004 a0004c0005 others(6): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(9): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(185): Hide
HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 others(246): Hide
0.940
77
80
10
chr12_88032543_G_T_b38
-
MODIFIER
chr12
G
T
TogoVar
88032543:splice
88032543:variant
goto
C12orf50upstream_gene_variantc.-3312C>A< others(4): Hide
RLIG1
Skin_Not_Sun_Exposed_Suprapubic
3.693
0.126
101114190
a0001 a0002 a0003 a0004 a0005 others(5): Hide
a0001c0001 a0002c0002 a0002c0003 a0003c0004 a0004c0005 others(6): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(9): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(185): Hide
HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 others(246): Hide
0.937
78
82
10
chr12_88032543_G_T_b38
-
MODIFIER
chr12
G
T
TogoVar
88032543:splice
88032543:variant
goto
C12orf50upstream_gene_variantc.-3312C>A< others(4): Hide
TMTC3
Skin_Not_Sun_Exposed_Suprapubic
12.258
0.252
101114190
a0001 a0002 a0003 a0004 a0005 others(5): Hide
a0001c0001 a0002c0002 a0002c0003 a0003c0004 a0004c0005 others(6): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(9): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(185): Hide
HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 others(246): Hide
0.937
78
82
10
chr12_88032543_G_T_b38
-
MODIFIER
chr12
G
T
TogoVar
88032543:splice
88032543:variant
goto
C12orf50upstream_gene_variantc.-3312C>A< others(4): Hide
RLIG1
Skin_Sun_Exposed_Lower_leg
4.029
0.120
101114190
a0001 a0002 a0003 a0004 a0005 others(5): Hide
a0001c0001 a0002c0002 a0002c0003 a0003c0004 a0004c0005 others(6): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(9): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(185): Hide
HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 others(246): Hide
0.931
100
103
10
chr12_88032543_G_T_b38
-
MODIFIER
chr12
G
T
TogoVar
88032543:splice
88032543:variant
goto
C12orf50upstream_gene_variantc.-3312C>A< others(4): Hide
CEP290
Skin_Sun_Exposed_Lower_leg
4.491
0.163
101114190
a0001 a0002 a0003 a0004 a0005 others(5): Hide
a0001c0001 a0002c0002 a0002c0003 a0003c0004 a0004c0005 others(6): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(9): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(185): Hide
HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 others(246): Hide
0.931
100
103
10
chr12_88032543_G_T_b38
-
MODIFIER
chr12
G
T
TogoVar
88032543:splice
88032543:variant
goto
C12orf50upstream_gene_variantc.-3312C>A< others(4): Hide
TMTC3
Skin_Sun_Exposed_Lower_leg
17.082
0.268
101114190
a0001 a0002 a0003 a0004 a0005 others(5): Hide
a0001c0001 a0002c0002 a0002c0003 a0003c0004 a0004c0005 others(6): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(9): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(185): Hide
HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 others(246): Hide
0.931
100
103
10
chr12_88032543_G_T_b38
-
MODIFIER
chr12
G
T
TogoVar
88030279:splice
88030279:variant
goto
C12orf50upstream_gene_variantc.-1048A>T< others(4): Hide
CEP290
Adipose_Subcutaneous
10.870
-0.246
7811175
a0001 a0002 a0004 a0005 a0006 others(2): Hide
a0001c0001 a0002c0002 a0002c0003 a0004c0005 a0005c0006 others(3): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(6): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(170): Hide
HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 others(225): Hide
0.911
119
126
10
chr12_88030279_T_A_b38
-
MODIFIER
chr12
T
A
TogoVar
88030279:splice
88030279:variant
goto
C12orf50upstream_gene_variantc.-1048A>T< others(4): Hide
CEP290
Artery_Tibial
4.118
-0.164
7811175
a0001 a0002 a0004 a0005 a0006 others(2): Hide
a0001c0001 a0002c0002 a0002c0003 a0004c0005 a0005c0006 others(3): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(6): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(170): Hide
HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 others(225): Hide
0.913
114
120
10
chr12_88030279_T_A_b38
-
MODIFIER
chr12
T
A
TogoVar
88030279:splice
88030279:variant
goto
C12orf50upstream_gene_variantc.-1048A>T< others(4): Hide
CEP290
Breast_Mammary_Tissue
3.900
-0.176
7811175
a0001 a0002 a0004 a0005 a0006 others(2): Hide
a0001c0001 a0002c0002 a0002c0003 a0004c0005 a0005c0006 others(3): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(6): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(170): Hide
HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 others(225): Hide
0.913
86
89
10
chr12_88030279_T_A_b38
-
MODIFIER
chr12
T
A
TogoVar
88030279:splice
88030279:variant
goto
C12orf50upstream_gene_variantc.-1048A>T< others(4): Hide
TMTC3
Cells_Cultured_fibroblasts
3.827
-0.140
7811175
a0001 a0002 a0004 a0005 a0006 others(2): Hide
a0001c0001 a0002c0002 a0002c0003 a0004c0005 a0005c0006 others(3): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(6): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(170): Hide
HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 others(225): Hide
0.917
103
108
10
chr12_88030279_T_A_b38
-
MODIFIER
chr12
T
A
TogoVar
88030279:splice
88030279:variant
goto
C12orf50upstream_gene_variantc.-1048A>T< others(4): Hide
CEP290
Heart_Atrial_Appendage
5.096
-0.257
7811175
a0001 a0002 a0004 a0005 a0006 others(2): Hide
a0001c0001 a0002c0002 a0002c0003 a0004c0005 a0005c0006 others(3): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(6): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(170): Hide
HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 others(225): Hide
0.923
66
71
10
chr12_88030279_T_A_b38
-
MODIFIER
chr12
T
A
TogoVar
88030279:splice
88030279:variant
goto
C12orf50upstream_gene_variantc.-1048A>T< others(4): Hide
RLIG1
Muscle_Skeletal
3.808
0.224
7811175
a0001 a0002 a0004 a0005 a0006 others(2): Hide
a0001c0001 a0002c0002 a0002c0003 a0004c0005 a0005c0006 others(3): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(6): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(170): Hide
HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 others(225): Hide
0.919
126
133
10
chr12_88030279_T_A_b38
-
MODIFIER
chr12
T
A
TogoVar
88030279:splice
88030279:variant
goto
C12orf50upstream_gene_variantc.-1048A>T< others(4): Hide
CEP290
Nerve_Tibial
9.946
-0.268
7811175
a0001 a0002 a0004 a0005 a0006 others(2): Hide
a0001c0001 a0002c0002 a0002c0003 a0004c0005 a0005c0006 others(3): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(6): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(170): Hide
HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 others(225): Hide
0.923
99
103
10
chr12_88030279_T_A_b38
-
MODIFIER
chr12
T
A
TogoVar
88030279:splice
88030279:variant
goto
C12orf50upstream_gene_variantc.-1048A>T< others(4): Hide
RLIG1
Skin_Not_Sun_Exposed_Suprapubic
6.088
0.156
7811175
a0001 a0002 a0004 a0005 a0006 others(2): Hide
a0001c0001 a0002c0002 a0002c0003 a0004c0005 a0005c0006 others(3): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(6): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(170): Hide
HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 others(225): Hide
0.914
103
111
10
chr12_88030279_T_A_b38
-
MODIFIER
chr12
T
A
TogoVar
88030279:splice
88030279:variant
goto
C12orf50upstream_gene_variantc.-1048A>T< others(4): Hide
TMTC3
Skin_Not_Sun_Exposed_Suprapubic
18.919
0.293
7811175
a0001 a0002 a0004 a0005 a0006 others(2): Hide
a0001c0001 a0002c0002 a0002c0003 a0004c0005 a0005c0006 others(3): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(6): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(170): Hide
HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 others(225): Hide
0.914
103
111
10
chr12_88030279_T_A_b38
-
MODIFIER
chr12
T
A
TogoVar
88030279:splice
88030279:variant
goto
C12orf50upstream_gene_variantc.-1048A>T< others(4): Hide
RLIG1
Skin_Sun_Exposed_Lower_leg
4.504
0.120
7811175
a0001 a0002 a0004 a0005 a0006 others(2): Hide
a0001c0001 a0002c0002 a0002c0003 a0004c0005 a0005c0006 others(3): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(6): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(170): Hide
HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 others(225): Hide
0.914
123
129
10
chr12_88030279_T_A_b38
-
MODIFIER
chr12
T
A
TogoVar
88030279:splice
88030279:variant
goto
C12orf50upstream_gene_variantc.-1048A>T< others(4): Hide
CEP290
Skin_Sun_Exposed_Lower_leg
5.310
0.168
7811175
a0001 a0002 a0004 a0005 a0006 others(2): Hide
a0001c0001 a0002c0002 a0002c0003 a0004c0005 a0005c0006 others(3): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(6): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(170): Hide
HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 others(225): Hide
0.914
123
129
10
chr12_88030279_T_A_b38
-
MODIFIER
chr12
T
A
TogoVar
88030279:splice
88030279:variant
goto
C12orf50upstream_gene_variantc.-1048A>T< others(4): Hide
TMTC3
Skin_Sun_Exposed_Lower_leg
22.386
0.287
7811175
a0001 a0002 a0004 a0005 a0006 others(2): Hide
a0001c0001 a0002c0002 a0002c0003 a0004c0005 a0005c0006 others(3): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(6): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(170): Hide
HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 others(225): Hide
0.914
123
129
10
chr12_88030279_T_A_b38
-
MODIFIER
chr12
T
A
TogoVar
88029597:splice
88029597:variant
goto
C12orf50upstream_gene_variantc.-366G>C others(3): Hide
CEP290
Adipose_Subcutaneous
9.023
-0.212
6710168
a0001 a0002 a0004 a0006 a0007 others(1): Hide
a0001c0001 a0002c0002 a0002c0003 a0004c0005 a0006c0009 others(2): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(5): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(163): Hide
HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 others(218): Hide
0.904
126
136
10
chr12_88029597_C_G_b38
-
MODIFIER
chr12
C
G
TogoVar
88029597:splice
88029597:variant
goto
C12orf50upstream_gene_variantc.-366G>C others(3): Hide
TMTC3
Cells_Cultured_fibroblasts
4.714
-0.151
6710168
a0001 a0002 a0004 a0006 a0007 others(1): Hide
a0001c0001 a0002c0002 a0002c0003 a0004c0005 a0006c0009 others(2): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(5): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(163): Hide
HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 others(218): Hide
0.909
110
118
10
chr12_88029597_C_G_b38
-
MODIFIER
chr12
C
G
TogoVar
88029597:splice
88029597:variant
goto
C12orf50upstream_gene_variantc.-366G>C others(3): Hide
CEP290
Heart_Atrial_Appendage
5.699
-0.255
6710168
a0001 a0002 a0004 a0006 a0007 others(1): Hide
a0001c0001 a0002c0002 a0002c0003 a0004c0005 a0006c0009 others(2): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(5): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(163): Hide
HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 others(218): Hide
0.917
67
76
10
chr12_88029597_C_G_b38
-
MODIFIER
chr12
C
G
TogoVar
88029597:splice
88029597:variant
goto
C12orf50upstream_gene_variantc.-366G>C others(3): Hide
CEP290
Nerve_Tibial
8.173
-0.231
6710168
a0001 a0002 a0004 a0006 a0007 others(1): Hide
a0001c0001 a0002c0002 a0002c0003 a0004c0005 a0006c0009 others(2): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(5): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(163): Hide
HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 others(218): Hide
0.916
105
112
10
chr12_88029597_C_G_b38
-
MODIFIER
chr12
C
G
TogoVar
88029597:splice
88029597:variant
goto
C12orf50upstream_gene_variantc.-366G>C others(3): Hide
RLIG1
Skin_Not_Sun_Exposed_Suprapubic
5.005
0.135
6710168
a0001 a0002 a0004 a0006 a0007 others(1): Hide
a0001c0001 a0002c0002 a0002c0003 a0004c0005 a0006c0009 others(2): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(5): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(163): Hide
HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 others(218): Hide
0.910
106
117
10
chr12_88029597_C_G_b38
-
MODIFIER
chr12
C
G
TogoVar
88029597:splice
88029597:variant
goto
C12orf50upstream_gene_variantc.-366G>C others(3): Hide
TMTC3
Skin_Not_Sun_Exposed_Suprapubic
17.842
0.274
6710168
a0001 a0002 a0004 a0006 a0007 others(1): Hide
a0001c0001 a0002c0002 a0002c0003 a0004c0005 a0006c0009 others(2): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(5): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(163): Hide
HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 others(218): Hide
0.910
106
117
10
chr12_88029597_C_G_b38
-
MODIFIER
chr12
C
G
TogoVar
88029597:splice
88029597:variant
goto
C12orf50upstream_gene_variantc.-366G>C others(3): Hide
RLIG1
Skin_Sun_Exposed_Lower_leg
4.445
0.116
6710168
a0001 a0002 a0004 a0006 a0007 others(1): Hide
a0001c0001 a0002c0002 a0002c0003 a0004c0005 a0006c0009 others(2): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(5): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(163): Hide
HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 others(218): Hide
0.909
129
137
10
chr12_88029597_C_G_b38
-
MODIFIER
chr12
C
G
TogoVar
88029597:splice
88029597:variant
goto
C12orf50upstream_gene_variantc.-366G>C others(3): Hide
CEP290
Skin_Sun_Exposed_Lower_leg
4.476
0.148
6710168
a0001 a0002 a0004 a0006 a0007 others(1): Hide
a0001c0001 a0002c0002 a0002c0003 a0004c0005 a0006c0009 others(2): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(5): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(163): Hide
HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 others(218): Hide
0.909
129
137
10
chr12_88029597_C_G_b38
-
MODIFIER
chr12
C
G
TogoVar
88029597:splice
88029597:variant
goto
C12orf50upstream_gene_variantc.-366G>C others(3): Hide
TMTC3
Skin_Sun_Exposed_Lower_leg
21.431
0.272
6710168
a0001 a0002 a0004 a0006 a0007 others(1): Hide
a0001c0001 a0002c0002 a0002c0003 a0004c0005 a0006c0009 others(2): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(5): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(163): Hide
HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 others(218): Hide
0.909
129
137
10
chr12_88029597_C_G_b38
-
MODIFIER
chr12
C
G
TogoVar
88025694:splice
88025694:variant
goto
C12orf50intron_variantc.133+794C>T
CEP290
Adipose_Subcutaneous
11.581
-0.177
669133
a0001 a0002 a0004 a0006 a0007 others(1): Hide
a0001c0001 a0002c0002 a0004c0005 a0006c0009 a0007c0008 others(1): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(4): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(128): Hide
HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 HG00558.hp2 others(174): Hide
0.783
265
309
10
chr12_88025694_G_A_b38
-
MODIFIER
chr12
G
A
TogoVar
88025694:splice
88025694:variant
goto
C12orf50intron_variantc.133+794C>T
CEP290
Adipose_Visceral_Omentum
5.537
-0.122
669133
a0001 a0002 a0004 a0006 a0007 others(1): Hide
a0001c0001 a0002c0002 a0004c0005 a0006c0009 a0007c0008 others(1): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(4): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(128): Hide
HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 HG00558.hp2 others(174): Hide
0.778
221
259
10
chr12_88025694_G_A_b38
-
MODIFIER
chr12
G
A
TogoVar
88025694:splice
88025694:variant
goto
C12orf50intron_variantc.133+794C>T
CEP290
Artery_Aorta
3.723
-0.142
669133
a0001 a0002 a0004 a0006 a0007 others(1): Hide
a0001c0001 a0002c0002 a0004c0005 a0006c0009 a0007c0008 others(1): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(4): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(128): Hide
HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 HG00558.hp2 others(174): Hide
0.789
171
199
10
chr12_88025694_G_A_b38
-
MODIFIER
chr12
G
A
TogoVar
88025694:splice
88025694:variant
goto
C12orf50intron_variantc.133+794C>T
CEP290
Artery_Tibial
5.939
-0.138
669133
a0001 a0002 a0004 a0006 a0007 others(1): Hide
a0001c0001 a0002c0002 a0004c0005 a0006c0009 a0007c0008 others(1): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(4): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(128): Hide
HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 HG00558.hp2 others(174): Hide
0.780
262
303
10
chr12_88025694_G_A_b38
-
MODIFIER
chr12
G
A
TogoVar
88025694:splice
88025694:variant
goto
C12orf50intron_variantc.133+794C>T
CEP290
Breast_Mammary_Tissue
6.428
-0.162
669133
a0001 a0002 a0004 a0006 a0007 others(1): Hide
a0001c0001 a0002c0002 a0004c0005 a0006c0009 a0007c0008 others(1): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(4): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(128): Hide
HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 HG00558.hp2 others(174): Hide
0.785
188
220
10
chr12_88025694_G_A_b38
-
MODIFIER
chr12
G
A
TogoVar
88025694:splice
88025694:variant
goto
C12orf50intron_variantc.133+794C>T
CEP290
Colon_Sigmoid
5.211
-0.189
669133
a0001 a0002 a0004 a0006 a0007 others(1): Hide
a0001c0001 a0002c0002 a0004c0005 a0006c0009 a0007c0008 others(1): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(4): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(128): Hide
HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 HG00558.hp2 others(174): Hide
0.781
158
183
10
chr12_88025694_G_A_b38
-
MODIFIER
chr12
G
A
TogoVar
88025694:splice
88025694:variant
goto
C12orf50intron_variantc.133+794C>T
CEP290
Colon_Transverse
6.588
-0.165
669133
a0001 a0002 a0004 a0006 a0007 others(1): Hide
a0001c0001 a0002c0002 a0004c0005 a0006c0009 a0007c0008 others(1): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(4): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(128): Hide
HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 HG00558.hp2 others(174): Hide
0.772
184
218
10
chr12_88025694_G_A_b38
-
MODIFIER
chr12
G
A
TogoVar
88025694:splice
88025694:variant
goto
C12orf50intron_variantc.133+794C>T
CEP290
Esophagus_Gastroesophageal_Junction
9.423
-0.313
669133
a0001 a0002 a0004 a0006 a0007 others(1): Hide
a0001c0001 a0002c0002 a0004c0005 a0006c0009 a0007c0008 others(1): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(4): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(128): Hide
HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 HG00558.hp2 others(174): Hide
0.792
143
168
10
chr12_88025694_G_A_b38
-
MODIFIER
chr12
G
A
TogoVar
88025694:splice
88025694:variant
goto
C12orf50intron_variantc.133+794C>T
CEP290
Esophagus_Mucosa
4.387
-0.134
669133
a0001 a0002 a0004 a0006 a0007 others(1): Hide
a0001c0001 a0002c0002 a0004c0005 a0006c0009 a0007c0008 others(1): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(4): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(128): Hide
HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 HG00558.hp2 others(174): Hide
0.778
235
273
10
chr12_88025694_G_A_b38
-
MODIFIER
chr12
G
A
TogoVar
88025694:splice
88025694:variant
goto
C12orf50intron_variantc.133+794C>T
CEP290
Esophagus_Muscularis
6.889
-0.216
669133
a0001 a0002 a0004 a0006 a0007 others(1): Hide
a0001c0001 a0002c0002 a0004c0005 a0006c0009 a0007c0008 others(1): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(4): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(128): Hide
HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 HG00558.hp2 others(174): Hide
0.772
217
256
10
chr12_88025694_G_A_b38
-
MODIFIER
chr12
G
A
TogoVar
88025694:splice
88025694:variant
goto
C12orf50intron_variantc.133+794C>T
RLIG1
Heart_Atrial_Appendage
4.448
-0.181
669133
a0001 a0002 a0004 a0006 a0007 others(1): Hide
a0001c0001 a0002c0002 a0004c0005 a0006c0009 a0007c0008 others(1): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(4): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(128): Hide
HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 HG00558.hp2 others(174): Hide
0.783
168
200
10
chr12_88025694_G_A_b38
-
MODIFIER
chr12
G
A
TogoVar
88025694:splice
88025694:variant
goto
C12orf50intron_variantc.133+794C>T
CEP290
Heart_Atrial_Appendage
6.321
-0.187
669133
a0001 a0002 a0004 a0006 a0007 others(1): Hide
a0001c0001 a0002c0002 a0004c0005 a0006c0009 a0007c0008 others(1): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(4): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(128): Hide
HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 HG00558.hp2 others(174): Hide
0.783
168
200
10
chr12_88025694_G_A_b38
-
MODIFIER
chr12
G
A
TogoVar
88025694:splice
88025694:variant
goto
C12orf50intron_variantc.133+794C>T
RLIG1
Heart_Left_Ventricle
4.342
-0.217
669133
a0001 a0002 a0004 a0006 a0007 others(1): Hide
a0001c0001 a0002c0002 a0004c0005 a0006c0009 a0007c0008 others(1): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(4): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(128): Hide
HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 HG00558.hp2 others(174): Hide
0.773
169
204
10
chr12_88025694_G_A_b38
-
MODIFIER
chr12
G
A
TogoVar
88025694:splice
88025694:variant
goto
C12orf50intron_variantc.133+794C>T
CEP290
Lung
4.101
-0.123
669133
a0001 a0002 a0004 a0006 a0007 others(1): Hide
a0001c0001 a0002c0002 a0004c0005 a0006c0009 a0007c0008 others(1): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(4): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(128): Hide
HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 HG00558.hp2 others(174): Hide
0.776
228
269
10
chr12_88025694_G_A_b38
-
MODIFIER
chr12
G
A
TogoVar
88025694:splice
88025694:variant
goto
C12orf50intron_variantc.133+794C>T
RLIG1
Muscle_Skeletal
5.676
-0.191
669133
a0001 a0002 a0004 a0006 a0007 others(1): Hide
a0001c0001 a0002c0002 a0004c0005 a0006c0009 a0007c0008 others(1): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(4): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(128): Hide
HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 HG00558.hp2 others(174): Hide
0.784
305
353
10
chr12_88025694_G_A_b38
-
MODIFIER
chr12
G
A
TogoVar
88025694:splice
88025694:variant
goto
C12orf50intron_variantc.133+794C>T
CEP290
Nerve_Tibial
17.818
-0.239
669133
a0001 a0002 a0004 a0006 a0007 others(1): Hide
a0001c0001 a0002c0002 a0004c0005 a0006c0009 a0007c0008 others(1): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(4): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(128): Hide
HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 HG00558.hp2 others(174): Hide
0.787
243
284
10
chr12_88025694_G_A_b38
-
MODIFIER
chr12
G
A
TogoVar
88025694:splice
88025694:variant
goto
C12orf50intron_variantc.133+794C>T
CEP290
Pancreas
9.143
-0.274
669133
a0001 a0002 a0004 a0006 a0007 others(1): Hide
a0001c0001 a0002c0002 a0004c0005 a0006c0009 a0007c0008 others(1): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(4): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(128): Hide
HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 HG00558.hp2 others(174): Hide
0.782
136
158
10
chr12_88025694_G_A_b38
-
MODIFIER
chr12
G
A
TogoVar
88025694:splice
88025694:variant
goto
C12orf50intron_variantc.133+794C>T
CEP290
Pituitary
9.412
-0.324
669133
a0001 a0002 a0004 a0006 a0007 others(1): Hide
a0001c0001 a0002c0002 a0004c0005 a0006c0009 a0007c0008 others(1): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(4): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(128): Hide
HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 HG00558.hp2 others(174): Hide
0.802
106
123
10
chr12_88025694_G_A_b38
-
MODIFIER
chr12
G
A
TogoVar
88025694:splice
88025694:variant
goto
C12orf50intron_variantc.133+794C>T
CEP290
Prostate
5.286
-0.216
669133
a0001 a0002 a0004 a0006 a0007 others(1): Hide
a0001c0001 a0002c0002 a0004c0005 a0006c0009 a0007c0008 others(1): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(4): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(128): Hide
HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 HG00558.hp2 others(174): Hide
0.778
108
125
10
chr12_88025694_G_A_b38
-
MODIFIER
chr12
G
A
TogoVar
88025694:splice
88025694:variant
goto
C12orf50intron_variantc.133+794C>T
TMTC3
Skin_Not_Sun_Exposed_Suprapubic
18.332
0.192
669133
a0001 a0002 a0004 a0006 a0007 others(1): Hide
a0001c0001 a0002c0002 a0004c0005 a0006c0009 a0007c0008 others(1): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(4): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(128): Hide
HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 HG00558.hp2 others(174): Hide
0.784
237
281
10
chr12_88025694_G_A_b38
-
MODIFIER
chr12
G
A
TogoVar
88025694:splice
88025694:variant
goto
C12orf50intron_variantc.133+794C>T
TMTC3
Skin_Sun_Exposed_Lower_leg
18.199
0.186
669133
a0001 a0002 a0004 a0006 a0007 others(1): Hide
a0001c0001 a0002c0002 a0004c0005 a0006c0009 a0007c0008 others(1): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(4): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(128): Hide
HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 HG00558.hp2 others(174): Hide
0.785
282
323
10
chr12_88025694_G_A_b38
-
MODIFIER
chr12
G
A
TogoVar
88025694:splice
88025694:variant
goto
C12orf50intron_variantc.133+794C>T
CEP290
Stomach
4.246
-0.167
669133
a0001 a0002 a0004 a0006 a0007 others(1): Hide
a0001c0001 a0002c0002 a0004c0005 a0006c0009 a0007c0008 others(1): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(4): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(128): Hide
HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 HG00558.hp2 others(174): Hide
0.779
155
180
10
chr12_88025694_G_A_b38
-
MODIFIER
chr12
G
A
TogoVar
88025694:splice
88025694:variant
goto
C12orf50intron_variantc.133+794C>T
CEP290
Thyroid
13.092
-0.195
669133
a0001 a0002 a0004 a0006 a0007 others(1): Hide
a0001c0001 a0002c0002 a0004c0005 a0006c0009 a0007c0008 others(1): Hide
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(4): Hide
a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(128): Hide
HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 HG00558.hp2 others(174): Hide
0.790
249
286
10
chr12_88025694_G_A_b38
-
MODIFIER
chr12
G
A
TogoVar
88016565:splice
88016565:variant
goto
C12orf50intron_variantc.133+9923T>C
RLIG1
Heart_Atrial_Appendage
4.259
-0.139
33474
a0001 a0002 a0006
a0001c0001 a0002c0002 a0006c0009
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0006c0009t0001
a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0018 others(69): Hide
HG00099.hp1 HG00280.hp1 HG00558.hp1 HG00621.hp1 HG00621.hp2 others(92): Hide
0.560
300
405
10
chr12_88016565_A_G_b38
-
MODIFIER
chr12
A
G
TogoVar
88016565:splice
88016565:variant
goto
C12orf50intron_variantc.133+9923T>C
RLIG1
Muscle_Skeletal
5.131
-0.140
33474
a0001 a0002 a0006
a0001c0001 a0002c0002 a0006c0009
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0006c0009t0001
a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0018 others(69): Hide
HG00099.hp1 HG00280.hp1 HG00558.hp1 HG00621.hp1 HG00621.hp2 others(92): Hide
0.575
525
693
10
chr12_88016565_A_G_b38
-
MODIFIER
chr12
A
G
TogoVar
88016565:splice
88016565:variant
goto
C12orf50intron_variantc.133+9923T>C
TMTC3
Skin_Sun_Exposed_Lower_leg
4.487
0.067
33474
a0001 a0002 a0006
a0001c0001 a0002c0002 a0006c0009
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0006c0009t0001
a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0018 others(69): Hide
HG00099.hp1 HG00280.hp1 HG00558.hp1 HG00621.hp1 HG00621.hp2 others(92): Hide
0.561
503
659
10
chr12_88016565_A_G_b38
-
MODIFIER
chr12
A
G
TogoVar
88016565:splice
88016565:variant
goto
C12orf50intron_variantc.133+9923T>C
CEP290
Thyroid
6.031
-0.101
33474
a0001 a0002 a0006
a0001c0001 a0002c0002 a0006c0009
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0006c0009t0001
a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0018 others(69): Hide
HG00099.hp1 HG00280.hp1 HG00558.hp1 HG00621.hp1 HG00621.hp2 others(92): Hide
0.561
453
598
10
chr12_88016565_A_G_b38
-
MODIFIER
chr12
A
G
TogoVar
88015417:splice
88015417:variant
goto
C12orf50intron_variantc.133+11071T>Cothers(1): Hide
RLIG1
Heart_Atrial_Appendage
4.294
-0.140
33466
a0001 a0002 a0006
a0001c0001 a0002c0002 a0006c0009
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0006c0009t0001
a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0019 others(61): Hide
HG00099.hp1 HG00280.hp1 HG00558.hp1 HG00621.hp1 HG00621.hp2 others(82): Hide
0.550
306
414
10
chr12_88015417_A_G_b38
-
MODIFIER
chr12
A
G
TogoVar
88015417:splice
88015417:variant
goto
C12orf50intron_variantc.133+11071T>Cothers(1): Hide
RLIG1
Muscle_Skeletal
4.877
-0.136
33466
a0001 a0002 a0006
a0001c0001 a0002c0002 a0006c0009
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0006c0009t0001
a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0019 others(61): Hide
HG00099.hp1 HG00280.hp1 HG00558.hp1 HG00621.hp1 HG00621.hp2 others(82): Hide
0.567
533
707
10
chr12_88015417_A_G_b38
-
MODIFIER
chr12
A
G
TogoVar
88015417:splice
88015417:variant
goto
C12orf50intron_variantc.133+11071T>Cothers(1): Hide
TMTC3
Skin_Sun_Exposed_Lower_leg
4.413
0.067
33466
a0001 a0002 a0006
a0001c0001 a0002c0002 a0006c0009
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0006c0009t0001
a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0019 others(61): Hide
HG00099.hp1 HG00280.hp1 HG00558.hp1 HG00621.hp1 HG00621.hp2 others(82): Hide
0.553
509
671
10
chr12_88015417_A_G_b38
-
MODIFIER
chr12
A
G
TogoVar
88015417:splice
88015417:variant
goto
C12orf50intron_variantc.133+11071T>Cothers(1): Hide
CEP290
Thyroid
5.966
-0.101
33466
a0001 a0002 a0006
a0001c0001 a0002c0002 a0006c0009
a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0006c0009t0001
a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0019 others(61): Hide
HG00099.hp1 HG00280.hp1 HG00558.hp1 HG00621.hp1 HG00621.hp2 others(82): Hide
0.553
459
609
10
chr12_88015417_A_G_b38
-
MODIFIER
chr12
A
G
TogoVar