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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GHRH_chr20_37246086_37266814 | 37255672 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG02818.hp2 HG02896.hp2 HG02897.hp2 |
a0001a0003 | a0001c0003a0003c0004 | a0001c0003t0001a0003c0004t0001 | a0001c0003t0001g0026 a0003c0004t0001g0043 |
3 | 408 | 0.0074 | -15 | c.188 others(30): Show |
GHRH | ENSG00000118702.11 | transcript | ENST00000373614.7 | protein_coding | 3/4 | chr20 | TogoVar | |||||||
GHR_chr5_42418439_42726878 | 42448573 | CTATTATT others(8): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00609.hp1 others(29): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0004t0011others(8): Show | a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0156 others(29): Show |
32 | 210 | 0.1524 | -15 | c.-12 others(34): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GHR_chr5_42418439_42726878 | 42614559 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG03540.hp2 | a0003 | a0003c0006 | a0003c0006t0009 | a0003c0006t0009g0208 | 1 | 210 | 0.0048 | -15 | c.71- others(32): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GIGYF1_chr7_100674507_100699250 | 100684099 | GCGGTGTC others(8): Show |
G | conservative_inframe_deletion | MODERATE | NA19076.hp1 | a0006 | a0006c0014 | a0006c0014t0042 | a0006c0014t0042g0096 | 1 | 398 | 0.0025 | -15 | c.177 others(24): Show |
p.Gly others(13): Show |
GIGYF1 | ENSG00000146830.11 | transcript | ENST00000678049.1 | protein_coding | 18/27 | 3027/6559 | 1774/3108 | 592/1035 | chr7 | TogoVar | |||
GIGYF1_chr7_100674507_100699250 | 100694312 | ACCGCCGC others(8): Show |
A | upstream_gene_variant | MODIFIER | HG02976.hp1 NA19081.hp2 NA19240.hp2 |
a0001 | a0001c0001a0001c0031 | a0001c0001t0001a0001c0001t0014a0001c0031t0074 | a0001c0001t0001g0155 a0001c0001t0014g0014 a0001c0031t0074g0203 |
3 | 398 | 0.0075 | -15 | c.-13 others(26): Show |
GIGYF1 | ENSG00000146830.11 | transcript | ENST00000678049.1 | protein_coding | 63 | chr7 | TogoVar | |||||||
GIGYF2_chr2_232692331_232865605 | 232857214 | GTCACTTT others(8): Show |
G | 3_prime_UTR_variant | MODIFIER | HG01175.hp2 NA20905.hp1 |
a0004 | a0004c0009 | a0004c0009t0011 | a0004c0009t0011g0328 a0004c0009t0011g0355 |
2 | 376 | 0.0053 | -15 | c.*35 others(24): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 29/29 | 356 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GIMAP8_chr7_150445630_150484393 | 150447402 | GGAGTTTC others(8): Show |
G | upstream_gene_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 372 | 0.0027 | -15 | c.-38 others(26): Show |
GIMAP8 | ENSG00000171115.4 | transcript | ENST00000307271.4 | protein_coding | 3227 | chr7 | TogoVar | |||||||
GIMAP8_chr7_150445630_150484393 | 150476846 | ATTGGTGG others(8): Show |
A | intron_variant | MODIFIER | NA18981.hp1 | a0011 | a0011c0018 | a0011c0018t0001 | a0011c0018t0001g0171 | 1 | 372 | 0.0027 | -15 | c.131 others(32): Show |
GIMAP8 | ENSG00000171115.4 | transcript | ENST00000307271.4 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GINM1_chr6_149561375_149596748 | 149562295 | TATATATA others(8): Show |
T | upstream_gene_variant | MODIFIER | NA18997.hp2 NA19090.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0151 a0001c0001t0006g0166 |
2 | 380 | 0.0053 | -15 | c.-41 others(26): Show |
GINM1 | ENSG00000055211.14 | transcript | ENST00000367419.10 | protein_coding | 4079 | chr6 | TogoVar | |||||||
GINM1_chr6_149561375_149596748 | 149562297 | TATATATA others(8): Show |
T | upstream_gene_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0150 | 1 | 380 | 0.0026 | -15 | c.-41 others(26): Show |
GINM1 | ENSG00000055211.14 | transcript | ENST00000367419.10 | protein_coding | 4077 | chr6 | TogoVar | |||||||
GINM1_chr6_149561375_149596748 | 149562302 | ATATATAT others(8): Show |
A | upstream_gene_variant | MODIFIER | NA19055.hp1 NA19084.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0294 |
2 | 380 | 0.0053 | -15 | c.-41 others(26): Show |
GINM1 | ENSG00000055211.14 | transcript | ENST00000367419.10 | protein_coding | 4072 | chr6 | TogoVar | |||||||
GINM1_chr6_149561375_149596748 | 149562304 | ATATATAT others(8): Show |
A | upstream_gene_variant | MODIFIER | NA18998.hp1 NA18998.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0147 a0001c0001t0002g0197 |
2 | 380 | 0.0053 | -15 | c.-41 others(26): Show |
GINM1 | ENSG00000055211.14 | transcript | ENST00000367419.10 | protein_coding | 4070 | chr6 | TogoVar | |||||||
GINM1_chr6_149561375_149596748 | 149562308 | ATATATAT others(8): Show |
A | upstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0075 | 1 | 380 | 0.0026 | -15 | c.-41 others(26): Show |
GINM1 | ENSG00000055211.14 | transcript | ENST00000367419.10 | protein_coding | 4066 | chr6 | TogoVar | |||||||
GINS1_chr20_25402673_25453563 | 25428969 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00642.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0024 a0001c0001t0001g0025 others(24): Show |
29 | 360 | 0.0806 | -15 | c.447 others(32): Show |
GINS1 | ENSG00000101003.12 | transcript | ENST00000262460.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
GINS3_chr16_58387471_58411147 | 58409262 | GTGTGTGT others(8): Show |
G | downstream_gene_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 434 | 0.0023 | -15 | c.*45 others(26): Show |
GINS3 | ENSG00000181938.14 | transcript | ENST00000318129.6 | protein_coding | 3116 | chr16 | TogoVar | |||||||
GINS4_chr8_41524261_41550030 | 41546849 | ATTTTTTT others(8): Show |
A | downstream_gene_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0168 | 1 | 426 | 0.0024 | -15 | c.*47 others(26): Show |
GINS4 | ENSG00000147536.12 | transcript | ENST00000276533.4 | protein_coding | 1820 | chr8 | TogoVar | |||||||
GIPC1_chr19_14472762_14501127 | 14480960 | ACTAGGAT others(8): Show |
A | intron_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 444 | 0.0023 | -15 | c.289 others(30): Show |
GIPC1 | ENSG00000123159.16 | transcript | ENST00000393033.9 | protein_coding | 4/8 | chr19 | TogoVar | |||||||
GIPC1_chr19_14472762_14501127 | 14483748 | CAATAATA others(8): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01069.hp2 HG01070.hp2 others(28): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0005others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(11): Show | a0001c0001t0001g0147 a0001c0001t0001g0175 a0001c0001t0001g0186 others(23): Show |
31 | 444 | 0.0698 | -15 | c.-30 others(30): Show |
GIPC1 | ENSG00000123159.16 | transcript | ENST00000393033.9 | protein_coding | 3/8 | chr19 | TogoVar | |||||||
GIPC1_chr19_14472762_14501127 | 14496041 | TCCGCCGC others(8): Show |
T | 5_prime_UTR_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0002 | a0001c0002t0033 | a0001c0002t0033g0047 | 1 | 444 | 0.0023 | -15 | c.-19 others(24): Show |
GIPC1 | ENSG00000123159.16 | transcript | ENST00000393033.9 | protein_coding | 1/9 | 13066 | chr19 | TogoVar | ||||||
GIPC2_chr1_78040966_78143444 | 78100940 | ATACACAC others(8): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02145.hp1 HG02257.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007 | a0001c0001t0002g0229 a0001c0001t0003g0101 a0001c0001t0003g0116 others(9): Show |
12 | 332 | 0.0361 | -15 | c.607 others(32): Show |
GIPC2 | ENSG00000137960.6 | transcript | ENST00000370759.4 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
GIPC2_chr1_78040966_78143444 | 78142354 | ATGTGTGT others(8): Show |
A | downstream_gene_variant | MODIFIER | HG01109.hp1 HG03927.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0017 | a0001c0001t0005g0320 a0002c0002t0017g0024 |
2 | 332 | 0.0060 | -15 | c.*66 others(26): Show |
GIPC2 | ENSG00000137960.6 | transcript | ENST00000370759.4 | protein_coding | 3911 | chr1 | TogoVar | |||||||
GJA10_chr6_89889469_89901120 | 89898151 | TTTCCTTT others(8): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00597.hp1 others(74): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 77 | 386 | 0.1995 | -15 | c.*20 others(26): Show |
GJA10 | ENSG00000135355.4 | transcript | ENST00000369352.1 | protein_coding | 2032 | chr6 | TogoVar | |||||||
GJA10_chr6_89889469_89901120 | 89898156 | TTTCCTTT others(8): Show |
T | downstream_gene_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 386 | 0.0026 | -15 | c.*20 others(26): Show |
GJA10 | ENSG00000135355.4 | transcript | ENST00000369352.1 | protein_coding | 2037 | chr6 | TogoVar | |||||||
GJA10_chr6_89889469_89901120 | 89898161 | TTTCCCTT others(8): Show |
T | downstream_gene_variant | MODIFIER | HG01081.hp1 HG01934.hp2 HG03834.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 4 | 386 | 0.0104 | -15 | c.*20 others(26): Show |
GJA10 | ENSG00000135355.4 | transcript | ENST00000369352.1 | protein_coding | 2042 | chr6 | TogoVar | |||||||
GJA4_chr1_34787999_34800747 | 34798686 | GTTGGATG others(8): Show |
G | downstream_gene_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 416 | 0.0024 | -15 | c.*34 others(26): Show |
GJA4 | ENSG00000187513.9 | transcript | ENST00000342280.5 | protein_coding | 2940 | chr1 | TogoVar | |||||||
GJA9_chr1_38869069_38886587 | 38870799 | CAAAAAAA others(8): Show |
C | downstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01884.hp2 others(7): Show |
a0001a0009 | a0001c0001a0009c0012 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(1): Show | a0001c0001t0002g0013 a0001c0001t0004g0017 a0001c0001t0004g0088 others(2): Show |
10 | 444 | 0.0225 | -15 | c.*37 others(26): Show |
GJA9 | ENSG00000131233.10 | transcript | ENST00000357771.5 | protein_coding | 3269 | chr1 | TogoVar | |||||||
GJC1_chr17_44793448_44835287 | 44822196 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG03209.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0056 | a0001c0001t0005g0349 a0001c0001t0056g0350 |
2 | 380 | 0.0053 | -15 | c.-97 others(32): Show |
GJC1 | ENSG00000182963.11 | transcript | ENST00000592524.6 | protein_coding | 1/2 | chr17 | TogoVar | |||||||
GJD2_chr15_34746032_34759998 | 34746236 | AAAAATAT others(8): Show |
A | downstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0008 | 1 | 446 | 0.0022 | -15 | c.*62 others(26): Show |
GJD2 | ENSG00000159248.5 | transcript | ENST00000290374.5 | protein_coding | 4795 | chr15 | TogoVar | |||||||
GK_chrX_30648423_30736462 | 30699267 | TAACATGT others(8): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG02965.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0011 | a0001c0001t0004g0171 a0001c0001t0004g0180 a0001c0001t0011g0181 |
3 | 286 | 0.0105 | -15 | c.748 others(32): Show |
GK | ENSG00000198814.14 | transcript | ENST00000427190.6 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GLB1L3_chr11_134271379_134324564 | 134308383 | CCACCATC others(8): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG01934.hp1 NA18906.hp2 |
a0001 | a0001c0001a0001c0019 | a0001c0001t0001a0001c0001t0003a0001c0019t0001 | a0001c0001t0001g0142 a0001c0001t0003g0141 a0001c0019t0001g0034 |
3 | 422 | 0.0071 | -15 | c.961 others(32): Show |
GLB1L3 | ENSG00000166105.16 | transcript | ENST00000431683.7 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GLB1L3_chr11_134271379_134324564 | 134308398 | TCACCATC others(8): Show |
T | intron_variant | MODIFIER | HG02071.hp2 HG02132.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004 | a0001c0002t0002g0284 a0001c0002t0004g0282 |
2 | 422 | 0.0047 | -15 | c.961 others(32): Show |
GLB1L3 | ENSG00000166105.16 | transcript | ENST00000431683.7 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GLB1_chr3_32991617_33102146 | 33018285 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG02896.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0005t0001a0001c0005t0002others(1): Show | a0001c0001t0001g0016 a0001c0005t0001g0244 a0001c0005t0002g0243 others(2): Show |
5 | 394 | 0.0127 | -15 | c.134 others(32): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 13/15 | chr3 | TogoVar | |||||||
GLB1_chr3_32991617_33102146 | 33031633 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 | 1 | 394 | 0.0025 | -15 | c.106 others(34): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 10/15 | chr3 | TogoVar | |||||||
GLB1_chr3_32991617_33102146 | 33031637 | AAAAATAT others(8): Show |
A | intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 394 | 0.0025 | -15 | c.106 others(34): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 10/15 | chr3 | TogoVar | |||||||
GLCCI1_chr7_7963796_8094080 | 8012432 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | NA18961.hp1 NA18965.hp1 NA18966.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0001 a0001c0002t0017g0133 |
4 | 416 | 0.0096 | -15 | c.609 others(32): Show |
GLCCI1 | ENSG00000106415.13 | transcript | ENST00000223145.10 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GLCE_chr15_69155635_69277207 | 69273450 | CTTTTTTT others(8): Show |
C | downstream_gene_variant | MODIFIER | NA18982.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0047 | 1 | 342 | 0.0029 | -15 | c.*42 others(26): Show |
GLCE | ENSG00000138604.10 | transcript | ENST00000261858.7 | protein_coding | 1244 | chr15 | TogoVar | |||||||
GLG1_chr16_74442440_74612114 | 74454666 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0294 | 1 | 342 | 0.0029 | -15 | c.337 others(34): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 25/25 | chr16 | TogoVar | |||||||
GLG1_chr16_74442440_74612114 | 74582828 | TAAATAAA others(8): Show |
T | intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0220 | 1 | 342 | 0.0029 | -15 | c.438 others(34): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 1/25 | chr16 | TogoVar | |||||||
GLG1_chr16_74442440_74612114 | 74610394 | TTTATTAT others(8): Show |
T | upstream_gene_variant | MODIFIER | HG01070.hp2 HG01981.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0323 a0001c0001t0001g0324 |
2 | 342 | 0.0059 | -15 | c.-33 others(26): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 3281 | chr16 | TogoVar | |||||||
GLI2_chr2_120730868_120997653 | 120886232 | TTTTTGTT others(8): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02145.hp2 HG02258.hp1 others(18): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0003a0001c0026others(11): Show | a0001c0002t0001a0001c0003t0005a0001c0003t0007others(18): Show | a0001c0002t0001g0057 a0001c0003t0005g0052 a0001c0003t0007g0051 others(18): Show |
21 | 160 | 0.1313 | -15 | c.149 others(34): Show |
GLI2 | ENSG00000074047.22 | transcript | ENST00000361492.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GLI2_chr2_120730868_120997653 | 120933840 | AGCCCTGC others(8): Show |
A | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG02257.hp2 others(3): Show |
a0001a0011a0016 | a0001c0002a0001c0007a0001c0025others(2): Show | a0001c0002t0019a0001c0007t0007a0001c0025t0011others(2): Show | a0001c0002t0019g0129 a0001c0002t0019g0134 a0001c0007t0007g0153 others(3): Show |
6 | 160 | 0.0375 | -15 | c.254 others(32): Show |
GLI2 | ENSG00000074047.22 | transcript | ENST00000361492.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GLI3_chr7_41955949_42242209 | 41968698 | AAAGAAAG others(8): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG02280.hp2 HG02647.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011a0001c0001t0021others(2): Show | a0001c0001t0001g0080 a0001c0001t0011g0019 a0001c0001t0021g0149 others(2): Show |
5 | 158 | 0.0317 | -15 | c.210 others(32): Show |
GLI3 | ENSG00000106571.15 | transcript | ENST00000395925.8 | protein_coding | 13/14 | chr7 | TogoVar | |||||||
GLI3_chr7_41955949_42242209 | 42238000 | GCCGCCTC others(8): Show |
G | upstream_gene_variant | MODIFIER | HG01433.hp2 HG02723.hp1 HG02976.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0020 | a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0008g0091 others(1): Show |
4 | 158 | 0.0253 | -15 | c.-10 others(26): Show |
GLI3 | ENSG00000106571.15 | transcript | ENST00000395925.8 | protein_coding | 792 | chr7 | TogoVar | |||||||
GLI3_chr7_41955949_42242209 | 42238010 | CCTCCTCC others(8): Show |
C | upstream_gene_variant | MODIFIER | HG02818.hp1 HG03579.hp2 NA18522.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0013a0001c0005t0007 | a0001c0001t0001g0100 a0001c0001t0013g0099 a0001c0005t0007g0101 |
3 | 158 | 0.0190 | -15 | c.-10 others(26): Show |
GLI3 | ENSG00000106571.15 | transcript | ENST00000395925.8 | protein_coding | 802 | chr7 | TogoVar | |||||||
GLIPR1_chr12_75475755_75508863 | 75500511 | GATTAATT others(8): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00597.hp2 HG00621.hp1 |
a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0144 a0001c0001t0018g0150 |
2 | 362 | 0.0055 | -15 | c.*15 others(26): Show |
GLIPR1 | ENSG00000139278.10 | transcript | ENST00000266659.8 | protein_coding | 6/6 | 1543 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
GLIPR2_chr9_36131733_36168906 | 36152952 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0339 | 1 | 420 | 0.0024 | -15 | c.304 others(32): Show |
GLIPR2 | ENSG00000122694.16 | transcript | ENST00000377960.9 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GLIS1_chr1_53501239_53744164 | 53622427 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00544.hp2 others(90): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0005a0002c0002others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(42): Show | a0001c0001t0001g0080 a0001c0001t0001g0111 a0001c0001t0001g0115 others(90): Show |
93 | 236 | 0.3941 | -15 | c.260 others(34): Show |
GLIS1 | ENSG00000174332.6 | transcript | ENST00000628545.2 | protein_coding | 2/10 | chr1 | TogoVar | |||||||
GLIS1_chr1_53501239_53744164 | 53687356 | GGGATTCC others(8): Show |
G | intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0192 | 1 | 236 | 0.0042 | -15 | c.259 others(34): Show |
GLIS1 | ENSG00000174332.6 | transcript | ENST00000628545.2 | protein_coding | 2/10 | chr1 | TogoVar | |||||||
GLIS3_chr9_3819127_4305068 | 3976795 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02735.hp2 HG02895.hp1 |
a0001 | a0001c0001 | a0001c0001t0040a0001c0001t0063 | a0001c0001t0040g0016 a0001c0001t0063g0143 |
2 | 188 | 0.0106 | -15 | c.171 others(36): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 4/10 | chr9 | TogoVar | |||||||
GLIS3_chr9_3819127_4305068 | 4177130 | AAAAACAA others(8): Show |
A | intron_variant | MODIFIER | HG01071.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0096 | 1 | 188 | 0.0053 | -15 | c.389 others(34): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 2/10 | chr9 | TogoVar |