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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GALNT13_chr2_153866922_154458979 | 154298583 | ATAATTTA others(18): Show |
A | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0187 | 1 | 212 | 0.0047 | -25 | c.976 others(42): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT14_chr2_30905467_31143440 | 31025031 | TAGTTATT others(18): Show |
T | intron_variant | MODIFIER | HG00438.hp2 NA18990.hp1 NA18991.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0050 a0001c0001t0001g0155 a0001c0002t0001g0138 |
3 | 224 | 0.0134 | -25 | c.130 others(44): Show |
GALNT14 | ENSG00000158089.15 | transcript | ENST00000349752.10 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
GALNT17_chr7_71127144_71718599 | 71282643 | CCTCAGGA others(18): Show |
C | intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 76 | 0.0132 | -25 | c.239 others(44): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71316188 | GTCCTGAT others(18): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00741.hp2 HG01106.hp2 others(10): Show |
a0001 | a0001c0001a0001c0004a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0042 others(10): Show |
13 | 44 | 0.2955 | -25 | c.239 others(44): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71603859 | CACTGTGC others(18): Show |
C | intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0065 | 1 | 76 | 0.0132 | -25 | c.108 others(46): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNT2_chr1_230062238_230287122 | 230276012 | ATATATAC others(18): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG00673.hp2 HG01071.hp2 others(42): Show |
a0001a0002 | a0001c0002a0002c0004a0002c0005others(1): Show | a0001c0002t0020a0001c0002t0039a0002c0004t0002others(6): Show | a0001c0002t0020g0235 a0001c0002t0039g0323 a0002c0004t0002g0001 others(42): Show |
45 | 321 | 0.1402 | -25 | c.156 others(44): Show |
GALNT2 | ENSG00000143641.10 | transcript | ENST00000366672.5 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
GALNTL5_chr7_151951446_152024929 | 152006110 | ACCAGGAA others(18): Show |
A | intron_variant | MODIFIER | HG02818.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0326 | 1 | 382 | 0.0026 | -25 | c.909 others(42): Show |
GALNTL5 | ENSG00000106648.15 | transcript | ENST00000392800.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNTL6_chr4_171808404_173046559 | 172405427 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 35 | 0.0286 | -25 | c.553 others(44): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GALNTL6_chr4_171808404_173046559 | 172405429 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 | 1 | 34 | 0.0294 | -25 | c.553 others(44): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GALNTL6_chr4_171808404_173046559 | 172405431 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 39 | 0.0256 | -25 | c.553 others(44): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GALNTL6_chr4_171808404_173046559 | 172759799 | CTTTTTTT others(18): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG03130.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006 | a0001c0001t0001g0023 a0001c0001t0004g0013 a0001c0001t0006g0020 |
3 | 12 | 0.2500 | -25 | c.554 others(44): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GALT_chr9_34641675_34656035 | 34644302 | TATATATA others(18): Show |
T | upstream_gene_variant | MODIFIER | HG01175.hp1 HG01175.hp2 HG02055.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0014 |
9 | 185 | 0.0486 | -25 | c.-24 others(36): Show |
GALT | ENSG00000213930.12 | transcript | ENST00000378842.8 | protein_coding | 2372 | chr9 | TogoVar | |||||||
GAREM1_chr18_32258522_32475882 | 32364012 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0031 | a0001c0031t0024 | a0001c0031t0024g0086 | 1 | 187 | 0.0053 | -25 | c.262 others(44): Show |
GAREM1 | ENSG00000141441.16 | transcript | ENST00000269209.7 | protein_coding | 2/5 | chr18 | TogoVar | |||||||
GARIN1A_chr7_128667292_128692877 | 128675417 | CATCTTTT others(18): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00597.hp1 others(39): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0017a0001c0001t0035a0004c0004t0007others(8): Show | a0001c0001t0017g0021 a0001c0001t0017g0153 a0001c0001t0035g0021 others(18): Show |
42 | 426 | 0.0986 | -25 | c.154 others(40): Show |
GARIN1A | ENSG00000205085.13 | transcript | ENST00000682356.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GARNL3_chr9_127259774_127398660 | 127394484 | AGAGTCTT others(18): Show |
A | downstream_gene_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 298 | 0.0034 | -25 | c.*12 others(36): Show |
GARNL3 | ENSG00000136895.19 | transcript | ENST00000373387.9 | protein_coding | 825 | chr9 | TogoVar | |||||||
GARRE1_chr19_34249554_34360566 | 34290874 | CTTTTTTT others(18): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG01069.hp1 HG01168.hp1 others(13): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0003a0002c0003t0003 | a0001c0002t0003g0152 a0001c0002t0003g0153 a0001c0002t0003g0158 others(13): Show |
16 | 18 | 0.8889 | -25 | c.-79 others(44): Show |
GARRE1 | ENSG00000166398.14 | transcript | ENST00000299505.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GAS2_chr11_22661611_22818001 | 22789418 | CATATGAG others(18): Show |
C | intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0037 | 1 | 270 | 0.0037 | -25 | c.724 others(44): Show |
GAS2 | ENSG00000148935.12 | transcript | ENST00000454584.7 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GAS7_chr17_9905606_10203606 | 10056772 | ATCTCCCT others(18): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG03491.hp1 NA20129.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0039 | a0001c0001t0001g0201 a0001c0001t0003g0047 a0001c0002t0039g0001 |
3 | 216 | 0.0139 | -25 | c.184 others(44): Show |
GAS7 | ENSG00000007237.19 | transcript | ENST00000432992.7 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
GATAD2B_chr1_153799725_153927972 | 153898320 | AAAAGAAA others(18): Show |
A | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0110 | 1 | 348 | 0.0029 | -25 | c.-2+ others(42): Show |
GATAD2B | ENSG00000143614.11 | transcript | ENST00000368655.5 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
GCH1_chr14_54837017_54907826 | 54880682 | TATATATA others(18): Show |
T | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0013 | 1 | 340 | 0.0029 | -25 | c.344 others(44): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | TogoVar | |||||||
GCLM_chr1_93880199_93914430 | 93909697 | CAGACACC others(18): Show |
C | upstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 380 | 0.0026 | -25 | c.-55 others(34): Show |
GCLM | ENSG00000023909.10 | transcript | ENST00000370238.8 | protein_coding | 268 | chr1 | TogoVar | |||||||
GCN1_chr12_120122202_120199715 | 120159744 | ACAAGCAC others(18): Show |
A | intron_variant | MODIFIER | HG04199.hp1 HG04228.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 a0001c0001t0001g0285 |
2 | 310 | 0.0065 | -25 | c.274 others(40): Show |
GCN1 | ENSG00000089154.11 | transcript | ENST00000300648.7 | protein_coding | 24/57 | chr12 | TogoVar | |||||||
GDF2_chr10_47317454_47332588 | 47328092 | GGTGAGTA others(18): Show |
G | downstream_gene_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0001 | 1 | 422 | 0.0024 | -25 | c.*23 others(36): Show |
GDF2 | ENSG00000263761.3 | transcript | ENST00000581492.3 | protein_coding | 505 | chr10 | TogoVar | |||||||
GDF2_chr10_47317454_47332588 | 47328815 | GTGTGCAC others(18): Show |
G | downstream_gene_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0001 | 1 | 422 | 0.0024 | -25 | c.*30 others(36): Show |
GDF2 | ENSG00000263761.3 | transcript | ENST00000581492.3 | protein_coding | 1228 | chr10 | TogoVar | |||||||
GDF2_chr10_47317454_47332588 | 47329504 | GGTGTGTG others(18): Show |
G | downstream_gene_variant | MODIFIER | HG01106.hp1 HG01891.hp1 HG02055.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0011others(1): Show | a0001c0001t0003g0001 a0001c0001t0006g0006 a0001c0001t0011g0003 others(1): Show |
13 | 422 | 0.0308 | -25 | c.*37 others(36): Show |
GDF2 | ENSG00000263761.3 | transcript | ENST00000581492.3 | protein_coding | 1917 | chr10 | TogoVar | |||||||
GDI2_chr10_5760223_5818434 | 5794185 | AAAAATAT others(18): Show |
A | intron_variant | MODIFIER | NA18943.hp1 NA18949.hp2 NA18960.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0132 a0001c0001t0001g0198 a0001c0001t0002g0119 others(1): Show |
4 | 382 | 0.0105 | -25 | c.388 others(40): Show |
GDI2 | ENSG00000057608.17 | transcript | ENST00000380191.9 | protein_coding | 4/10 | chr10 | TogoVar | |||||||
GDI2_chr10_5760223_5818434 | 5797621 | AGGAGAAT others(18): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(377): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(340): Show |
380 | 396 | 0.9596 | -25 | c.154 others(40): Show |
GDI2 | ENSG00000057608.17 | transcript | ENST00000380191.9 | protein_coding | 2/10 | chr10 | TogoVar | |||||||
GDPD1_chr17_59215511_59280970 | 59219059 | ATTTTTTT others(18): Show |
A | upstream_gene_variant | MODIFIER | HG00741.hp2 HG03139.hp1 NA18977.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0016 | a0001c0001t0002g0185 a0001c0001t0002g0209 a0001c0001t0002g0219 others(1): Show |
4 | 37 | 0.1081 | -25 | c.-15 others(36): Show |
GDPD1 | ENSG00000153982.11 | transcript | ENST00000284116.9 | protein_coding | 1451 | chr17 | TogoVar | |||||||
GDPGP1_chr15_90229209_90250811 | 90232806 | TGAGGCAG others(18): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(295): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0009a0001c0011others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(87): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(157): Show |
298 | 436 | 0.6835 | -25 | c.-16 others(36): Show |
GDPGP1 | ENSG00000183208.13 | transcript | ENST00000329600.8 | protein_coding | 1402 | chr15 | TogoVar | |||||||
GDPGP1_chr15_90229209_90250811 | 90246787 | CAAAAAAA others(18): Show |
C | downstream_gene_variant | MODIFIER | HG01891.hp1 | a0010 | a0010c0019 | a0010c0019t0128 | a0010c0019t0128g0101 | 1 | 39 | 0.0256 | -25 | c.*47 others(36): Show |
GDPGP1 | ENSG00000183208.13 | transcript | ENST00000329600.8 | protein_coding | 977 | chr15 | TogoVar | |||||||
GFPT1_chr2_69314780_69392227 | 69384138 | CTTCTCTG others(18): Show |
C | intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0256 | 1 | 364 | 0.0027 | -25 | c.7+2 others(38): Show |
GFPT1 | ENSG00000198380.13 | transcript | ENST00000357308.9 | protein_coding | 1/19 | chr2 | TogoVar | |||||||
GGT1_chr22_24598193_24633996 | 24605109 | ATATATTA others(18): Show |
A | intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0400 | 1 | 386 | 0.0026 | -25 | c.-42 others(44): Show |
GGT1 | ENSG00000100031.19 | transcript | ENST00000400382.6 | protein_coding | 1/15 | chr22 | TogoVar | |||||||
GGT1_chr22_24598193_24633996 | 24605585 | TATAATAT others(18): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG01257.hp1 HG01891.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0001a0001c0001t0007a0002c0002t0003others(1): Show | a0001c0001t0001g0092 a0001c0001t0001g0102 a0001c0001t0007g0024 others(8): Show |
11 | 409 | 0.0269 | -25 | c.-42 others(44): Show |
GGT1 | ENSG00000100031.19 | transcript | ENST00000400382.6 | protein_coding | 1/15 | chr22 | TogoVar | |||||||
GGT1_chr22_24598193_24633996 | 24605613 | TATAATAT others(18): Show |
T | intron_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 423 | 0.0024 | -25 | c.-42 others(44): Show |
GGT1 | ENSG00000100031.19 | transcript | ENST00000400382.6 | protein_coding | 1/15 | chr22 | TogoVar | |||||||
GGT1_chr22_24598193_24633996 | 24605669 | TTTAATAT others(18): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG01175.hp2 HG02683.hp1 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0010 | a0001c0001t0001a0002c0002t0002a0003c0010t0001 | a0001c0001t0001g0066 a0001c0001t0001g0077 a0001c0001t0001g0142 others(3): Show |
6 | 423 | 0.0142 | -25 | c.-42 others(44): Show |
GGT1 | ENSG00000100031.19 | transcript | ENST00000400382.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
GGT1_chr22_24598193_24633996 | 24605853 | TATGATGT others(18): Show |
T | intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0397 | 1 | 423 | 0.0024 | -25 | c.-42 others(44): Show |
GGT1 | ENSG00000100031.19 | transcript | ENST00000400382.6 | protein_coding | 1/15 | chr22 | TogoVar | |||||||
GGT6_chr17_4551927_4565577 | 4564677 | CTTTCTTT others(18): Show |
C | upstream_gene_variant | MODIFIER | HG02145.hp2 HG03041.hp2 NA19012.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0003 | a0001c0001t0002g0019 a0002c0003t0003g0004 |
3 | 456 | 0.0066 | -25 | c.-41 others(36): Show |
GGT6 | ENSG00000167741.11 | transcript | ENST00000381550.8 | protein_coding | 4101 | chr17 | TogoVar | |||||||
GGT6_chr17_4551927_4565577 | 4564681 | CTTTCTTT others(18): Show |
C | upstream_gene_variant | MODIFIER | HG01099.hp1 HG01928.hp1 HG01975.hp2 |
a0005 | a0005c0009 | a0005c0009t0005 | a0005c0009t0005g0020 | 3 | 451 | 0.0067 | -25 | c.-41 others(36): Show |
GGT6 | ENSG00000167741.11 | transcript | ENST00000381550.8 | protein_coding | 4105 | chr17 | TogoVar | |||||||
GH2_chr17_63875215_63886944 | 63886650 | CTCTTTTC others(18): Show |
C | upstream_gene_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 124 | 0.0081 | -25 | c.-48 others(36): Show |
GH2 | ENSG00000136487.18 | transcript | ENST00000423893.7 | protein_coding | 4707 | chr17 | TogoVar | |||||||
GINM1_chr6_149561375_149596748 | 149562294 | ATATATAT others(18): Show |
A | upstream_gene_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 | 1 | 374 | 0.0027 | -25 | c.-41 others(36): Show |
GINM1 | ENSG00000055211.14 | transcript | ENST00000367419.10 | protein_coding | 4080 | chr6 | TogoVar | |||||||
GINM1_chr6_149561375_149596748 | 149570135 | TTTATATA others(18): Show |
T | intron_variant | MODIFIER | HG02723.hp2 | a0002 | a0002c0003 | a0002c0003t0019 | a0002c0003t0019g0062 | 1 | 368 | 0.0027 | -25 | c.121 others(42): Show |
GINM1 | ENSG00000055211.14 | transcript | ENST00000367419.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GJA10_chr6_89889469_89901120 | 89898141 | TTTCCTTT others(18): Show |
T | downstream_gene_variant | MODIFIER | HG00639.hp2 HG01168.hp1 HG01169.hp2 others(17): Show |
a0001a0008 | a0001c0001a0008c0008 | a0001c0001t0001a0008c0008t0001 | a0001c0001t0001g0000 a0008c0008t0001g0000 |
20 | 365 | 0.0548 | -25 | c.*20 others(36): Show |
GJA10 | ENSG00000135355.4 | transcript | ENST00000369352.1 | protein_coding | 2022 | chr6 | TogoVar | |||||||
GJA10_chr6_89889469_89901120 | 89898156 | TTTCCTTT others(18): Show |
T | downstream_gene_variant | MODIFIER | HG01981.hp2 HG02004.hp2 HG02572.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0000 a0001c0001t0002g0000 |
10 | 342 | 0.0292 | -25 | c.*20 others(36): Show |
GJA10 | ENSG00000135355.4 | transcript | ENST00000369352.1 | protein_coding | 2037 | chr6 | TogoVar | |||||||
GJA5_chr1_147751199_147765602 | 147757495 | GGGGCATT others(18): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(271): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0014 others(23): Show |
274 | 448 | 0.6116 | -25 | c.*64 others(34): Show |
GJA5 | ENSG00000265107.3 | transcript | ENST00000579774.3 | protein_coding | 2/2 | 642 | chr1 | TogoVar | ||||||
GJA9_chr1_38869069_38886587 | 38869541 | CTATAGAT others(18): Show |
C | downstream_gene_variant | MODIFIER | NA19062.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0106 | 1 | 442 | 0.0023 | -25 | c.*49 others(36): Show |
GJA9 | ENSG00000131233.10 | transcript | ENST00000357771.5 | protein_coding | 4527 | chr1 | TogoVar | |||||||
GJD2_chr15_34746032_34759998 | 34746220 | AAAAAAAA others(18): Show |
A | downstream_gene_variant | MODIFIER | HG02735.hp1 HG03834.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 2 | 444 | 0.0045 | -25 | c.*62 others(36): Show |
GJD2 | ENSG00000159248.5 | transcript | ENST00000290374.5 | protein_coding | 4811 | chr15 | TogoVar | |||||||
GJD2_chr15_34746032_34759998 | 34746234 | AAAAAAAT others(18): Show |
A | downstream_gene_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0005 | 1 | 420 | 0.0024 | -25 | c.*62 others(36): Show |
GJD2 | ENSG00000159248.5 | transcript | ENST00000290374.5 | protein_coding | 4797 | chr15 | TogoVar | |||||||
GLB1L3_chr11_134271379_134324564 | 134308464 | CCACCACC others(18): Show |
C | intron_variant | MODIFIER | HG01496.hp1 HG02257.hp1 |
a0001 | a0001c0001a0001c0016 | a0001c0001t0001a0001c0016t0011 | a0001c0001t0001g0143 a0001c0016t0011g0101 |
2 | 411 | 0.0049 | -25 | c.962 others(42): Show |
GLB1L3 | ENSG00000166105.16 | transcript | ENST00000431683.7 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GLI1_chr12_57454785_57477268 | 57462057 | CAGCTAGG others(18): Show |
C | intron_variant | MODIFIER | NA19078.hp2 | a0015 | a0015c0026 | a0015c0026t0001 | a0015c0026t0001g0035 | 1 | 412 | 0.0024 | -25 | c.-27 others(42): Show |
GLI1 | ENSG00000111087.10 | transcript | ENST00000228682.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
GLI2_chr2_120730868_120997653 | 120886232 | TTTTTGTT others(18): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00639.hp2 others(41): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0003a0001c0007others(10): Show | a0001c0002t0001a0001c0002t0006a0001c0002t0007others(25): Show | a0001c0002t0001g0027 a0001c0002t0001g0040 a0001c0002t0001g0042 others(41): Show |
44 | 80 | 0.5500 | -25 | c.149 others(44): Show |
GLI2 | ENSG00000074047.22 | transcript | ENST00000361492.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |