regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADGRA1_chr10_133082924_133136675 | 133111178 | A | AACCACCC others(2176): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0018 | 1 | 368 | 0.0027 | 2183 | c.401 others(2200): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | chr10 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 964867 | A | ATGGAAAG others(2176): Show |
intron_variant | MODIFIER | HG01081.hp1 HG03492.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0176a0001c0002t0003g0187 | 2 | 268 | 0.0075 | 2183 | c.137 others(2200): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2176): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0264 | 1 | 334 | 0.0030 | 2183 | c.147 others(2200): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
C2CD4C_chr19_400445_414147 | 411301 | G | GCCCCTGC others(2176): Show |
upstream_gene_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0112 | a0001c0001t0112g0092 | 1 | 322 | 0.0031 | 2183 | c.-23 others(2194): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 2155 | chr19 | TogoVar | ||||||
CLEC17A_chr19_14578084_14617035 | 14595973 | A | ATGTTGTT others(2176): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0004 | a0004c0009 | a0004c0009t0002 | a0004c0009t0002g0136 | 1 | 364 | 0.0028 | 2183 | c.445 others(2198): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2176): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 316 | 0.0032 | 2183 | c.44- others(2196): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
DCLK2_chr4_150073445_150262438 | 150251236 | C | CCCCCCAC others(2176): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0027 | 1 | 116 | 0.0086 | 2183 | c.207 others(2202): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
DPPA4_chr3_109321144_109342546 | 109339123 | A | AGAGGTTG others(2176): Show |
upstream_gene_variant | MODIFIER | HG02559.hp1 HG02647.hp2 HG02717.hp2 others(7): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0004a0001c0007t0004 | a0001c0001t0004g0020a0001c0001t0004g0046a0001c0001t0004g0184others(4): Show | 10 | 416 | 0.0240 | 2183 | c.-16 others(2194): Show |
DPPA4 | ENSG00000121570.13 | transcript | ENST00000335658.7 | protein_coding | 1578 | chr3 | TogoVar | ||||||
DPPA4_chr3_109321144_109342546 | 109339123 | A | AGAGGTTG others(2176): Show |
upstream_gene_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0002 | a0002c0002t0018 | a0002c0002t0018g0178 | 1 | 416 | 0.0024 | 2183 | c.-16 others(2194): Show |
DPPA4 | ENSG00000121570.13 | transcript | ENST00000335658.7 | protein_coding | 1578 | chr3 | TogoVar | ||||||
DPPA4_chr3_109321144_109342546 | 109339123 | A | AGAGGTTG others(2176): Show |
upstream_gene_variant | MODIFIER | HG03453.hp1 NA19030.hp2 |
a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0179a0002c0002t0012g0180 | 2 | 416 | 0.0048 | 2183 | c.-16 others(2194): Show |
DPPA4 | ENSG00000121570.13 | transcript | ENST00000335658.7 | protein_coding | 1578 | chr3 | TogoVar | ||||||
DPPA4_chr3_109321144_109342546 | 109339123 | A | AGAGGTTG others(2176): Show |
upstream_gene_variant | MODIFIER | HG02145.hp2 HG02615.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0186a0001c0001t0004g0187 | 2 | 416 | 0.0048 | 2183 | c.-16 others(2194): Show |
DPPA4 | ENSG00000121570.13 | transcript | ENST00000335658.7 | protein_coding | 1578 | chr3 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706449 | C | CATAGATA others(2176): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0282 | 1 | 292 | 0.0034 | 2183 | c.228 others(2200): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706449 | C | CATAGATA others(2176): Show |
upstream_gene_variant | MODIFIER | NA18961.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0048 | 1 | 369 | 0.0027 | 2183 | c.-49 others(2194): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4751 | chr4 | TogoVar | ||||||
F13A1_chr6_6139084_6325662 | 6261873 | G | GTGACCCT others(2176): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0246 | 1 | 292 | 0.0034 | 2183 | c.571 others(2200): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 4/14 | chr6 | TogoVar | ||||||
F13A1_chr6_6139084_6325662 | 6261873 | G | GTGACCCT others(2176): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0237 | 1 | 292 | 0.0034 | 2183 | c.571 others(2200): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 4/14 | chr6 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33323368 | G | GAATATAT others(2176): Show |
upstream_gene_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0139 | 1 | 323 | 0.0031 | 2183 | c.-16 others(2194): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1601 | chr21 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(2176): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0012 | a0012c0021 | a0012c0021t0001 | a0012c0021t0001g0082 | 1 | 186 | 0.0054 | 2183 | c.723 others(2200): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | ||||||
LGR6_chr1_202188799_202324761 | 202205410 | C | CCAGCACA others(2176): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 262 | 0.0038 | 2183 | c.212 others(2202): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
LGR6_chr1_202188799_202324761 | 202205410 | C | CCAGCACA others(2176): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00741.hp1 HG01074.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0119a0001c0001t0001g0120a0001c0001t0001g0121others(8): Show | 11 | 262 | 0.0420 | 2183 | c.212 others(2202): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
LGR6_chr1_202188799_202324761 | 202205410 | C | CCAGCACA others(2176): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 262 | 0.0038 | 2183 | c.212 others(2202): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
LGR6_chr1_202188799_202324761 | 202205410 | C | CCAGCACA others(2176): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 262 | 0.0038 | 2183 | c.212 others(2202): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP10A_chr15_25673712_25868327 | 25757928 | C | CCACCTGC others(2177): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0009 | a0009c0011 | a0009c0011t0001 | a0009c0011t0001g0196 | 1 | 300 | 0.0033 | 2184 | c.655 others(2203): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1432080 | T | TCAGCAGT others(2177): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0136 | 1 | 360 | 0.0028 | 2184 | c.92- others(2199): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CHMP1A_chr16_89639435_89662708 | 89648286 | C | CGCGGGGT others(2177): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0124 | 1 | 392 | 0.0026 | 2184 | c.253 others(2199): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | ||||||
CHMP1A_chr16_89639435_89662708 | 89648421 | G | GGTGGAGA others(2177): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0064 | 1 | 392 | 0.0026 | 2184 | c.252 others(2199): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | ||||||
CPNE8_chr12_38647203_38910591 | 38854386 | T | TATAACAA others(2177): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0002 | a0001c0002t0028 | a0001c0002t0028g0285 | 1 | 342 | 0.0029 | 2184 | c.187 others(2201): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 3/19 | chr12 | TogoVar | ||||||
CPNE8_chr12_38647203_38910591 | 38854386 | T | TATAACAA others(2177): Show |
intron_variant | MODIFIER | HG01167.hp2 HG02109.hp2 HG02647.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0327a0001c0001t0001g0328a0001c0001t0001g0329others(4): Show | 7 | 342 | 0.0205 | 2184 | c.187 others(2201): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 3/19 | chr12 | TogoVar | ||||||
CPNE8_chr12_38647203_38910591 | 38854386 | T | TATAACAA others(2177): Show |
intron_variant | MODIFIER | NA18939.hp2 NA19011.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115a0001c0001t0001g0228 | 2 | 342 | 0.0059 | 2184 | c.187 others(2201): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 3/19 | chr12 | TogoVar | ||||||
CPNE8_chr12_38647203_38910591 | 38854386 | T | TATAACAA others(2177): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp1 others(47): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(5): Show | a0001c0001t0001g0026a0001c0001t0001g0083a0001c0001t0001g0084others(47): Show | 50 | 342 | 0.1462 | 2184 | c.187 others(2201): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 3/19 | chr12 | TogoVar | ||||||
CPNE8_chr12_38647203_38910591 | 38854386 | T | TATAACAA others(2177): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0155 | 1 | 342 | 0.0029 | 2184 | c.187 others(2201): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 3/19 | chr12 | TogoVar | ||||||
CPNE8_chr12_38647203_38910591 | 38854386 | T | TATAACAA others(2177): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02615.hp1 HG02809.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0007a0002c0005t0001 | a0001c0001t0007g0334a0001c0001t0007g0335a0001c0001t0007g0337others(3): Show | 6 | 342 | 0.0175 | 2184 | c.187 others(2201): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 3/19 | chr12 | TogoVar | ||||||
CPNE8_chr12_38647203_38910591 | 38854386 | T | TATAACAA others(2177): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0336 | 1 | 342 | 0.0029 | 2184 | c.187 others(2201): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 3/19 | chr12 | TogoVar | ||||||
DPPA4_chr3_109321144_109342546 | 109339123 | A | AGAGGTTG others(2177): Show |
upstream_gene_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0046 | 1 | 416 | 0.0024 | 2184 | c.-16 others(2195): Show |
DPPA4 | ENSG00000121570.13 | transcript | ENST00000335658.7 | protein_coding | 1578 | chr3 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137329823 | G | GGGACTAC others(2177): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 82 | 0.0122 | 2184 | c.199 others(2203): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGGT others(2177): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0181 | 1 | 390 | 0.0026 | 2184 | c.972 others(2197): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
KCNN3_chr1_154692455_154875281 | 154713957 | C | CATGGTGT others(2177): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0004 | a0001c0004t0060 | a0001c0004t0060g0102 | 1 | 238 | 0.0042 | 2184 | c.183 others(2201): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar | ||||||
KCNN3_chr1_154692455_154875281 | 154713957 | C | CATGGTGT others(2177): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0003 | a0003c0003 | a0003c0003t0115 | a0003c0003t0115g0236 | 1 | 238 | 0.0042 | 2184 | c.183 others(2201): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar | ||||||
KCNN3_chr1_154692455_154875281 | 154713957 | C | CATGGTGT others(2177): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02486.hp2 |
a0002a0006 | a0002c0010a0006c0013 | a0002c0010t0112a0006c0013t0054 | a0002c0010t0112g0230a0006c0013t0054g0022 | 2 | 238 | 0.0084 | 2184 | c.183 others(2201): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar | ||||||
LGR6_chr1_202188799_202324761 | 202205410 | C | CCAGCACA others(2177): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 262 | 0.0038 | 2184 | c.212 others(2203): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(2177): Show |
intron_variant | MODIFIER | NA18963.hp1 | a0005 | a0005c0019 | a0005c0019t0024 | a0005c0019t0024g0187 | 1 | 292 | 0.0034 | 2184 | c.218 others(2199): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(2177): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0003 | a0003c0003 | a0003c0003t0040 | a0003c0003t0040g0171 | 1 | 292 | 0.0034 | 2184 | c.218 others(2199): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | ||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATATT others(2177): Show |
upstream_gene_variant | MODIFIER | NA18963.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0003 | 1 | 432 | 0.0023 | 2184 | c.-20 others(2195): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | ||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATTTA others(2177): Show |
upstream_gene_variant | MODIFIER | HG04204.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0003 | 1 | 432 | 0.0023 | 2184 | c.-20 others(2195): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 458579 | C | CCACAGGG others(2177): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0003 | a0002c0003t0011 | a0002c0003t0011g0102 | 1 | 295 | 0.0034 | 2184 | c.715 others(2201): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RPEL1_chr10_103240887_103253016 | 103251100 | A | ACCACCAT others(2177): Show |
downstream_gene_variant | MODIFIER | HG01106.hp2 NA18954.hp2 NA19000.hp1 |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0002a0001c0001t0009a0004c0005t0002 | a0001c0001t0002g0000a0001c0001t0009g0000a0004c0005t0002g0000 | 3 | 375 | 0.0080 | 2184 | c.*44 others(2195): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3085 | chr10 | TogoVar | ||||||
THAP4_chr2_241579405_241642158 | 241590992 | T | TTGGCTGA others(2177): Show |
intron_variant | MODIFIER | HG03209.hp2 NA18906.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0198a0001c0002t0001g0199 | 2 | 390 | 0.0051 | 2184 | c.161 others(2203): Show |
THAP4 | ENSG00000176946.13 | transcript | ENST00000407315.6 | protein_coding | 5/5 | chr2 | TogoVar | ||||||
TTLL8_chr22_50013575_50063298 | 50029158 | C | ACTCGTAA others(2177): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0174 | 1 | 224 | 0.0045 | 2184 | c.225 others(2203): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | ||||||
CDHR2_chr5_176544342_176600824 | 176591775 | G | GTTGTGAT others(2178): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0122 | 1 | 344 | 0.0029 | 2185 | c.373 others(2202): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
GPRIN1_chr5_176590802_176615156 | 176591775 | G | GTTGTGAT others(2178): Show |
downstream_gene_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0061 | 1 | 397 | 0.0025 | 2185 | c.*50 others(2196): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 4026 | chr5 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(2178): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0000 | a0000c0113 | a0000c0113t0001 | a0000c0113t0001g0078 | 1 | 186 | 0.0054 | 2185 | c.723 others(2202): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar |