view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AP2A2_chr11_920870_1017240 | 965240 | C | CGGGAAAT others(3828): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 141 | 0.0071 | 3835 | c.137 others(3852): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
C22orf39_chr22_19435886_19452711 | 19448418 | T | TACCTTAT others(3828): Show |
upstream_gene_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 379 | 0.0026 | 3835 | c.-73 others(3844): Show |
C22orf39 | ENSG00000242259.9 | transcript | ENST00000399562.9 | protein_coding | 708 | chr22 | TogoVar | |||||||
DOCK1_chr10_126900428_127457516 | 126948184 | A | ATGGTGGT others(3828): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03041.hp1 |
a0001a0003 | a0001c0001a0003c0019 | a0001c0001t0002a0003c0019t0003 | a0001c0001t0002g0128 a0003c0019t0003g0051 |
2 | 49 | 0.0408 | 3835 | c.47- others(3852): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
TBCE_chr1_235362427_235457443 | 235409824 | T | TTCGAGAC others(3828): Show |
intron_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0137 | 1 | 77 | 0.0130 | 3835 | c.186 others(3852): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TBCE_chr1_235362427_235457443 | 235409824 | T | TTCGAGAC others(3828): Show |
intron_variant | MODIFIER | HG01070.hp1 HG03704.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 a0001c0001t0001g0100 |
2 | 78 | 0.0256 | 3835 | c.186 others(3852): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
UFD1_chr22_19444911_19484193 | 19448418 | T | TACCTTAT others(3828): Show |
downstream_gene_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 360 | 0.0028 | 3835 | c.*22 others(3846): Show |
UFD1 | ENSG00000070010.19 | transcript | ENST00000263202.15 | protein_coding | 1492 | chr22 | TogoVar | |||||||
TBCE_chr1_235362427_235457443 | 235409824 | T | TTCGAGAC others(3829): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 77 | 0.0130 | 3836 | c.186 others(3853): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TBCE_chr1_235362427_235457443 | 235409824 | T | TTCGAGAC others(3829): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02630.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0014 | a0001c0001t0003g0188 a0001c0001t0014g0018 |
2 | 78 | 0.0256 | 3836 | c.186 others(3853): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TBCE_chr1_235362427_235457443 | 235409824 | T | TTCGAGAC others(3829): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00558.hp1 others(37): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(6): Show | a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0025 others(37): Show |
40 | 116 | 0.3448 | 3836 | c.186 others(3853): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TBCE_chr1_235362427_235457443 | 235409824 | T | TTCGAGAC others(3829): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01123.hp1 HG01261.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0105 a0001c0001t0001g0114 a0001c0001t0003g0104 others(2): Show |
5 | 81 | 0.0617 | 3836 | c.186 others(3853): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TBCE_chr1_235362427_235457443 | 235409824 | T | TTGGAGAC others(3829): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0158 | 1 | 77 | 0.0130 | 3836 | c.186 others(3853): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TBCE_chr1_235362427_235457443 | 235409824 | T | TTCGAGAC others(3830): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00621.hp2 HG00642.hp2 others(37): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0037 others(37): Show |
40 | 116 | 0.3448 | 3837 | c.186 others(3854): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TBCE_chr1_235362427_235457443 | 235409824 | T | TTCGAGAC others(3830): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 77 | 0.0130 | 3837 | c.186 others(3854): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TBCE_chr1_235362427_235457443 | 235409824 | T | TTCGAGAC others(3830): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0015 | 1 | 77 | 0.0130 | 3837 | c.186 others(3854): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TBCE_chr1_235362427_235457443 | 235409824 | T | TTCGAGAC others(3830): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0109 | 1 | 77 | 0.0130 | 3837 | c.186 others(3854): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TBCE_chr1_235362427_235457443 | 235409824 | T | TTCGAGAC others(3830): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0110 a0001c0001t0003g0111 |
2 | 78 | 0.0256 | 3837 | c.186 others(3854): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TBCE_chr1_235362427_235457443 | 235409824 | T | TTGGAGAC others(3830): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01106.hp2 HG01243.hp2 others(19): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0010 | a0001c0001t0004g0011 a0001c0001t0004g0027 a0001c0001t0004g0038 others(19): Show |
22 | 98 | 0.2245 | 3837 | c.186 others(3854): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TBCE_chr1_235362427_235457443 | 235409824 | T | TTGGAGAC others(3830): Show |
intron_variant | MODIFIER | HG02027.hp1 NA18995.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0019 | a0001c0001t0004g0180 a0001c0001t0019g0157 |
2 | 78 | 0.0256 | 3837 | c.186 others(3854): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TBCE_chr1_235362427_235457443 | 235409824 | T | TTGGAGAC others(3830): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0181 | 1 | 77 | 0.0130 | 3837 | c.186 others(3854): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TBCE_chr1_235362427_235457443 | 235409824 | T | TTGGAGAC others(3830): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0007 | 1 | 77 | 0.0130 | 3837 | c.186 others(3854): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGA others(3831): Show |
intron_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0322 | 1 | 96 | 0.0104 | 3838 | c.119 others(3857): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | |||||||
TBCE_chr1_235362427_235457443 | 235409824 | T | TTCGAGAC others(3831): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0242 | 1 | 77 | 0.0130 | 3838 | c.186 others(3855): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TBCE_chr1_235362427_235457443 | 235409824 | T | TTCGAGAC others(3831): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01099.hp2 HG03139.hp1 others(9): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0074 others(9): Show |
12 | 88 | 0.1364 | 3838 | c.186 others(3855): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TBCE_chr1_235362427_235457443 | 235409824 | T | TTCGAGAC others(3831): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG02559.hp1 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0130 a0001c0001t0013g0131 a0001c0001t0013g0152 |
3 | 79 | 0.0380 | 3838 | c.186 others(3855): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TBCE_chr1_235362427_235457443 | 235409824 | T | TTCGAGAC others(3831): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0102 a0001c0001t0003g0103 |
2 | 78 | 0.0256 | 3838 | c.186 others(3855): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TBCE_chr1_235362427_235457443 | 235409824 | T | TTGGAGAC others(3831): Show |
intron_variant | MODIFIER | HG01109.hp1 HG03195.hp2 NA18906.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0017 | a0001c0001t0009g0008 a0001c0001t0009g0020 a0001c0001t0009g0022 others(1): Show |
4 | 80 | 0.0500 | 3838 | c.186 others(3855): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TBCE_chr1_235362427_235457443 | 235409824 | T | TTGGAGAC others(3831): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0263 | 1 | 77 | 0.0130 | 3838 | c.186 others(3855): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TBCE_chr1_235362427_235457443 | 235409824 | T | TTGGAGAC others(3831): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0159 | 1 | 77 | 0.0130 | 3838 | c.186 others(3855): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TBCE_chr1_235362427_235457443 | 235409824 | T | TTCGAGAC others(3832): Show |
intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 77 | 0.0130 | 3839 | c.186 others(3856): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TBCE_chr1_235362427_235457443 | 235409824 | T | TTCGAGAC others(3832): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 77 | 0.0130 | 3839 | c.186 others(3856): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TBCE_chr1_235362427_235457443 | 235409824 | T | TTCGAGAC others(3832): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0044 | 1 | 77 | 0.0130 | 3839 | c.186 others(3856): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TBCE_chr1_235362427_235457443 | 235409824 | T | TTCGAGAC others(3832): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0175 | 1 | 77 | 0.0130 | 3839 | c.186 others(3856): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TBCE_chr1_235362427_235457443 | 235409824 | T | TTCGAGAC others(3832): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0162 | 1 | 77 | 0.0130 | 3839 | c.186 others(3856): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TBCE_chr1_235362427_235457443 | 235409824 | T | TTCGAGAC others(3832): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02257.hp1 HG02258.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006a0001c0001t0008others(2): Show | a0001c0001t0005g0124 a0001c0001t0005g0165 a0001c0001t0005g0166 others(13): Show |
16 | 92 | 0.1739 | 3839 | c.186 others(3856): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TBCE_chr1_235362427_235457443 | 235409824 | T | TTCGAGAC others(3832): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0160 | 1 | 77 | 0.0130 | 3839 | c.186 others(3856): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TBCE_chr1_235362427_235457443 | 235409824 | T | TTCGAGAC others(3832): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0163 | 1 | 77 | 0.0130 | 3839 | c.186 others(3856): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TBCE_chr1_235362427_235457443 | 235409824 | T | TTCGAGAC others(3832): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0187 | 1 | 77 | 0.0130 | 3839 | c.186 others(3856): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TBCE_chr1_235362427_235457443 | 235409824 | T | TTCGAGAC others(3832): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0169 | 1 | 77 | 0.0130 | 3839 | c.186 others(3856): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(3833): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 50 | 0.0200 | 3840 | c.147 others(3857): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TBCE_chr1_235362427_235457443 | 235409824 | T | TTCGAGAC others(3833): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0184 | 1 | 77 | 0.0130 | 3840 | c.186 others(3857): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TBCE_chr1_235362427_235457443 | 235409824 | T | TTCGAGAC others(3833): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0164 | 1 | 77 | 0.0130 | 3840 | c.186 others(3857): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TBCE_chr1_235362427_235457443 | 235409824 | T | TTCGAGAC others(3833): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0002 | 1 | 77 | 0.0130 | 3840 | c.186 others(3857): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TBCE_chr1_235362427_235457443 | 235409824 | T | TTCGAGAC others(3833): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0119 | 1 | 77 | 0.0130 | 3840 | c.186 others(3857): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RTEL1_chr20_63653312_63701245 | 63693579 | A | ACCTCCAC others(3834): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0012 | a0001c0012t0002 | a0001c0012t0002g0005 | 1 | 50 | 0.0200 | 3841 | c.299 others(3858): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TRPM2_chr21_44348621_44447644 | 44407131 | A | ATTCCTCC others(3834): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0003 | a0003c0007 | a0003c0007t0003 | a0003c0007t0003g0003 | 1 | 4 | 0.2500 | 3841 | c.296 others(3858): Show |
TRPM2 | ENSG00000142185.18 | transcript | ENST00000397928.6 | protein_coding | 19/31 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(3835): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0069 | a0069c0148 | a0069c0148t0001 | a0069c0148t0001g0150 | 1 | 34 | 0.0294 | 3842 | c.299 others(3857): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
ARHGAP30_chr1_161041946_161074891 | 161062103 | C | CAAAAAAA others(3838): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0002 | a0002c0003 | a0002c0003t0009 | a0002c0003t0009g0150 | 1 | 375 | 0.0027 | 3845 | c.98- others(3860): Show |
ARHGAP30 | ENSG00000186517.14 | transcript | ENST00000368013.8 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
TBCE_chr1_235362427_235457443 | 235409824 | T | TTGGAGAC others(3838): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0006 | 1 | 77 | 0.0130 | 3845 | c.186 others(3862): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C22orf39_chr22_19435886_19452711 | 19448418 | T | TACCTTAT others(3839): Show |
upstream_gene_variant | MODIFIER | NA18998.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0027 | 1 | 379 | 0.0026 | 3846 | c.-73 others(3855): Show |
C22orf39 | ENSG00000242259.9 | transcript | ENST00000399562.9 | protein_coding | 708 | chr22 | TogoVar | |||||||
C22orf39_chr22_19435886_19452711 | 19448418 | T | TACCTTAT others(3839): Show |
upstream_gene_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 379 | 0.0026 | 3846 | c.-73 others(3855): Show |
C22orf39 | ENSG00000242259.9 | transcript | ENST00000399562.9 | protein_coding | 708 | chr22 | TogoVar |