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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GATA5_chr20_62458497_62480995 | 62476946 | T | TTTCTTTC others(20): Show |
upstream_gene_variant | MODIFIER | HG02698.hp2 NA18980.hp2 NA19079.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0088 a0001c0001t0001g0155 a0001c0002t0001g0007 |
3 | 357 | 0.0084 | 27 | c.-10 others(38): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 952 | chr20 | TogoVar | |||||||
GATA5_chr20_62458497_62480995 | 62477098 | C | CTTCCTTC others(20): Show |
upstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0046 | 1 | 162 | 0.0062 | 27 | c.-11 others(38): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 1104 | chr20 | TogoVar | |||||||
GATA5_chr20_62458497_62480995 | 62477138 | T | TTTCTTTC others(20): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 HG02132.hp1 |
a0002 | a0002c0005a0002c0006 | a0002c0005t0001a0002c0006t0002 | a0002c0005t0001g0244 a0002c0006t0002g0225 |
2 | 245 | 0.0082 | 27 | c.-12 others(38): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 1144 | chr20 | TogoVar | |||||||
GATAD2B_chr1_153799725_153927972 | 153839108 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0204 | 1 | 17 | 0.0588 | 27 | c.-1- others(44): Show |
GATAD2B | ENSG00000143614.11 | transcript | ENST00000368655.5 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
GATAD2B_chr1_153799725_153927972 | 153876227 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0043 | 1 | 78 | 0.0128 | 27 | c.-2+ others(44): Show |
GATAD2B | ENSG00000143614.11 | transcript | ENST00000368655.5 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
GBF1_chr10_102240532_102387896 | 102242928 | C | CAAAAAAA others(20): Show |
upstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0014 | 1 | 32 | 0.0313 | 27 | c.-28 others(38): Show |
GBF1 | ENSG00000107862.7 | transcript | ENST00000369983.5 | protein_coding | 2603 | chr10 | TogoVar | |||||||
GCA_chr2_162339132_162368123 | 162345131 | G | GGTGGTGG others(20): Show |
intron_variant | MODIFIER | NA18941.hp2 NA18974.hp1 NA18994.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0148 a0001c0001t0003g0149 a0001c0001t0003g0150 |
3 | 321 | 0.0093 | 27 | c.27+ others(40): Show |
GCA | ENSG00000115271.11 | transcript | ENST00000437150.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GCA_chr2_162339132_162368123 | 162345131 | G | GGTGGTGG others(20): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0153 | 1 | 319 | 0.0031 | 27 | c.27+ others(40): Show |
GCA | ENSG00000115271.11 | transcript | ENST00000437150.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GCH1_chr14_54837017_54907826 | 54855505 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 159 | 0.0063 | 27 | c.509 others(44): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | TogoVar | |||||||
GCK_chr7_44139275_44194439 | 44174854 | C | CTCCTCTT others(20): Show |
intron_variant | MODIFIER | NA18967.hp1 NA19009.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0284 a0001c0001t0008g0347 |
2 | 162 | 0.0123 | 27 | c.45+ others(44): Show |
GCK | ENSG00000106633.18 | transcript | ENST00000403799.8 | protein_coding | 1/9 | chr7 | TogoVar | |||||||
GCK_chr7_44139275_44194439 | 44174854 | C | CTCTTCCT others(20): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0101 | 1 | 161 | 0.0062 | 27 | c.45+ others(44): Show |
GCK | ENSG00000106633.18 | transcript | ENST00000403799.8 | protein_coding | 1/9 | chr7 | TogoVar | |||||||
GCK_chr7_44139275_44194439 | 44174915 | T | TCTTCTTC others(20): Show |
intron_variant | MODIFIER | HG01433.hp2 HG01934.hp2 HG02148.hp2 others(8): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0008 a0001c0001t0001g0037 a0001c0001t0001g0075 others(6): Show |
11 | 209 | 0.0526 | 27 | c.45+ others(44): Show |
GCK | ENSG00000106633.18 | transcript | ENST00000403799.8 | protein_coding | 1/9 | chr7 | TogoVar | |||||||
GCNT2_chr6_10516351_10634368 | 10534139 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 158 | 0.0063 | 27 | c.925 others(44): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GCNT2_chr6_10516351_10634368 | 10569274 | C | CACACACA others(20): Show |
intron_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 312 | 0.0032 | 27 | c.925 others(46): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | chr6 | TogoVar | |||||||
GCNT2_chr6_10550809_10634368 | 10569274 | C | CACACACA others(20): Show |
intron_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 331 | 0.0030 | 27 | c.919 others(46): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000316170.9 | protein_coding | 1/2 | chr6 | TogoVar | |||||||
GCNT3_chr15_59606783_59627723 | 59610949 | C | CCCCCTCC others(20): Show |
upstream_gene_variant | MODIFIER | HG01517.hp1 HG02615.hp2 HG02647.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0026others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0035 others(4): Show |
7 | 419 | 0.0167 | 27 | c.-12 others(38): Show |
GCNT3 | ENSG00000140297.13 | transcript | ENST00000396065.3 | protein_coding | 833 | chr15 | TogoVar | |||||||
GCSH_chr16_81076945_81101395 | 81080667 | A | ATTTTTTT others(20): Show |
downstream_gene_variant | MODIFIER | HG01993.hp1 NA18968.hp2 NA19054.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0002 a0002c0002t0002g0014 a0002c0002t0002g0078 |
3 | 274 | 0.0109 | 27 | c.*21 others(38): Show |
GCSH | ENSG00000140905.11 | transcript | ENST00000315467.9 | protein_coding | 1277 | chr16 | TogoVar | |||||||
GCSH_chr16_81076945_81101395 | 81095629 | T | TCCTCGGC others(20): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(299): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(114): Show |
302 | 352 | 0.8580 | 27 | c.148 others(42): Show |
GCSH | ENSG00000140905.11 | transcript | ENST00000315467.9 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
GDAP1_chr8_74345403_74371876 | 74356716 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 163 | 0.0061 | 27 | c.311 others(44): Show |
GDAP1 | ENSG00000104381.14 | transcript | ENST00000220822.12 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
GDF7_chr2_20662144_20684243 | 20663249 | T | TAAAAAAA others(20): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG00733.hp2 |
a0001 | a0001c0001 | a0001c0001t0233a0001c0001t0236 | a0001c0001t0233g0001 a0001c0001t0236g0001 |
2 | 167 | 0.0120 | 27 | c.-39 others(38): Show |
GDF7 | ENSG00000143869.7 | transcript | ENST00000272224.5 | protein_coding | 3894 | chr2 | TogoVar | |||||||
GDF7_chr2_20662144_20684243 | 20667362 | G | GGGCGGCG others(20): Show |
disruptive_inframe_insertion | MODERATE | HG02559.hp1 HG03471.hp1 |
a0010 | a0010c0013 | a0010c0013t0203a0010c0013t0204 | a0010c0013t0203g0001 a0010c0013t0204g0001 |
2 | 8 | 0.2500 | 27 | c.149 others(34): Show |
p.Gly others(11): Show |
GDF7 | ENSG00000143869.7 | transcript | ENST00000272224.5 | protein_coding | 1/2 | 246/9267 | 150/1353 | 50/450 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
GDPD2_chrX_70418314_70438381 | 70424300 | T | TTTAGAAG others(20): Show |
intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 316 | 0.0032 | 27 | c.-9- others(40): Show |
GDPD2 | ENSG00000130055.14 | transcript | ENST00000374382.4 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GEMIN2_chr14_39109323_39141973 | 39123708 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0280 | 1 | 273 | 0.0037 | 27 | c.486 others(44): Show |
GEMIN2 | ENSG00000092208.19 | transcript | ENST00000308317.12 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GEMIN6_chr2_38773210_38790002 | 38779664 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 125 | 0.0080 | 27 | c.128 others(42): Show |
GEMIN6 | ENSG00000152147.11 | transcript | ENST00000281950.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GFPT2_chr5_180295698_180358336 | 180297458 | A | AAAAAAAA others(20): Show |
downstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0210 | 1 | 199 | 0.0050 | 27 | c.*41 others(38): Show |
GFPT2 | ENSG00000131459.13 | transcript | ENST00000253778.13 | protein_coding | 3239 | chr5 | TogoVar | |||||||
GFPT2_chr5_180295698_180358336 | 180297458 | A | AAAAAAAA others(20): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 HG03453.hp1 NA19240.hp1 |
a0001 | a0001c0005 | a0001c0005t0003a0001c0005t0011 | a0001c0005t0003g0206 a0001c0005t0003g0207 a0001c0005t0011g0374 |
3 | 201 | 0.0149 | 27 | c.*41 others(38): Show |
GFPT2 | ENSG00000131459.13 | transcript | ENST00000253778.13 | protein_coding | 3239 | chr5 | TogoVar | |||||||
GFPT2_chr5_180295698_180358336 | 180297458 | A | AAAAAAAA others(20): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0341 | 1 | 199 | 0.0050 | 27 | c.*41 others(38): Show |
GFPT2 | ENSG00000131459.13 | transcript | ENST00000253778.13 | protein_coding | 3239 | chr5 | TogoVar | |||||||
GFRAL_chr6_55322469_55407493 | 55397524 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0236 | 1 | 58 | 0.0172 | 27 | c.953 others(44): Show |
GFRAL | ENSG00000187871.2 | transcript | ENST00000340465.2 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GFUS_chr8_143607618_143622549 | 143619147 | C | CAAAAAAA others(20): Show |
upstream_gene_variant | MODIFIER | HG02280.hp2 HG02559.hp1 HG02622.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0003 a0001c0001t0001g0023 a0001c0001t0003g0005 others(1): Show |
14 | 175 | 0.0800 | 27 | c.-16 others(38): Show |
GFUS | ENSG00000104522.16 | transcript | ENST00000425753.7 | protein_coding | 1599 | chr8 | TogoVar | |||||||
GGNBP2_chr17_36539919_36594848 | 36575648 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0285 | 1 | 121 | 0.0083 | 27 | c.642 others(44): Show |
GGNBP2 | ENSG00000278311.5 | transcript | ENST00000613102.5 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GGNBP2_chr17_36539919_36594848 | 36575648 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0231 | 1 | 121 | 0.0083 | 27 | c.642 others(44): Show |
GGNBP2 | ENSG00000278311.5 | transcript | ENST00000613102.5 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GGT7_chr20_34839720_34877856 | 34845112 | T | TCACCACC others(20): Show |
3_prime_UTR_variant | MODIFIER | HG00423.hp1 HG01099.hp1 HG02004.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0042 a0001c0001t0008g0043 a0001c0001t0008g0093 others(5): Show |
10 | 160 | 0.0625 | 27 | c.*18 others(36): Show |
GGT7 | ENSG00000131067.17 | transcript | ENST00000336431.10 | protein_coding | 15/15 | 215 | chr20 | TogoVar | ||||||
GIMAP1_chr7_150711613_150729284 | 150727146 | C | CATATTAT others(20): Show |
downstream_gene_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 430 | 0.0023 | 27 | c.*62 others(38): Show |
GIMAP1 | ENSG00000213203.3 | transcript | ENST00000307194.6 | protein_coding | 2863 | chr7 | TogoVar | |||||||
GINS2_chr16_85671198_85693954 | 85685670 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02071.hp1 NA18948.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0010others(1): Show | a0001c0001t0003g0130 a0001c0001t0004g0053 a0001c0001t0004g0281 others(4): Show |
9 | 171 | 0.0526 | 27 | c.205 others(44): Show |
GINS2 | ENSG00000131153.9 | transcript | ENST00000253462.8 | protein_coding | 2/4 | chr16 | TogoVar | |||||||
GINS2_chr16_85671198_85693954 | 85685685 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG01071.hp2 NA19062.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0014 | a0001c0001t0003g0122 a0001c0001t0014g0143 |
2 | 408 | 0.0049 | 27 | c.205 others(44): Show |
GINS2 | ENSG00000131153.9 | transcript | ENST00000253462.8 | protein_coding | 2/4 | chr16 | TogoVar | |||||||
GIPC1_chr19_14472762_14501127 | 14496041 | T | TCCGCCGC others(20): Show |
5_prime_UTR_variant | MODIFIER | NA18975.hp1 NA18980.hp2 NA19004.hp1 |
a0001 | a0001c0001 | a0001c0001t0024a0001c0001t0048 | a0001c0001t0024g0313 a0001c0001t0024g0314 a0001c0001t0048g0315 |
3 | 196 | 0.0153 | 27 | c.-20 others(36): Show |
GIPC1 | ENSG00000123159.16 | transcript | ENST00000393033.9 | protein_coding | 1/9 | 13066 | chr19 | TogoVar | ||||||
GIPC1_chr19_14472762_14501127 | 14496074 | G | GCCTCCGC others(20): Show |
5_prime_UTR_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0002 | a0001c0002t0040 | a0001c0002t0040g0220 | 1 | 441 | 0.0023 | 27 | c.-21 others(36): Show |
GIPC1 | ENSG00000123159.16 | transcript | ENST00000393033.9 | protein_coding | 1/9 | 13099 | chr19 | TogoVar | ||||||
GIP_chr17_48953554_48973596 | 48965138 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG01981.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0065 a0001c0001t0004g0044 |
2 | 4 | 0.5000 | 27 | c.87- others(40): Show |
GIP | ENSG00000159224.4 | transcript | ENST00000357424.2 | protein_coding | 2/5 | chr17 | TogoVar | |||||||
GJC3_chr7_99918266_99934620 | 99923021 | C | CAGAAAAC others(20): Show |
downstream_gene_variant | MODIFIER | NA19059.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 390 | 0.0026 | 27 | c.*52 others(36): Show |
GJC3 | ENSG00000176402.6 | transcript | ENST00000312891.3 | protein_coding | 244 | chr7 | TogoVar | |||||||
GK_chrX_30648423_30736462 | 30699214 | T | TACATGTT others(20): Show |
intron_variant | MODIFIER | HG01361.hp1 HG01891.hp1 HG01993.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0217 a0001c0001t0002g0200 a0001c0001t0002g0201 others(12): Show |
15 | 278 | 0.0540 | 27 | c.748 others(44): Show |
GK | ENSG00000198814.14 | transcript | ENST00000427190.6 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GK_chrX_30648423_30736462 | 30736309 | T | TATTTTTA others(20): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0167 | 1 | 284 | 0.0035 | 27 | c.*75 others(38): Show |
GK | ENSG00000198814.14 | transcript | ENST00000427190.6 | protein_coding | 4848 | chrX | TogoVar | |||||||
GLB1L3_chr11_134271379_134324564 | 134308323 | T | TCACCATC others(20): Show |
intron_variant | MODIFIER | HG03139.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 a0001c0001t0001g0196 |
2 | 389 | 0.0051 | 27 | c.961 others(44): Show |
GLB1L3 | ENSG00000166105.16 | transcript | ENST00000431683.7 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GLB1_chr3_32991617_33102146 | 33031640 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 248 | 0.0040 | 27 | c.106 others(46): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 10/15 | chr3 | TogoVar | |||||||
GLB1_chr3_32991617_33102146 | 33043771 | G | GAAAGATA others(20): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02622.hp1 HG02809.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0016 a0001c0001t0001g0027 a0001c0001t0001g0036 others(7): Show |
10 | 209 | 0.0478 | 27 | c.106 others(46): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 10/15 | chr3 | TogoVar | |||||||
GLCCI1_chr7_7963796_8094080 | 7966733 | C | CTTTTTTT others(20): Show |
upstream_gene_variant | MODIFIER | HG02486.hp1 HG02559.hp2 HG02630.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0036others(1): Show | a0001c0001t0001g0226 a0001c0001t0001g0278 a0001c0001t0001g0281 others(7): Show |
10 | 238 | 0.0420 | 27 | c.-26 others(38): Show |
GLCCI1 | ENSG00000106415.13 | transcript | ENST00000223145.10 | protein_coding | 2062 | chr7 | TogoVar | |||||||
GLCCI1_chr7_7963796_8094080 | 8049595 | A | AAACTTAC others(20): Show |
intron_variant | MODIFIER | HG03831.hp1 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0327 a0001c0001t0004g0328 |
2 | 414 | 0.0048 | 27 | c.697 others(44): Show |
GLCCI1 | ENSG00000106415.13 | transcript | ENST00000223145.10 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GLDC_chr9_6527467_6650729 | 6646315 | T | TCTCCTCC others(20): Show |
upstream_gene_variant | MODIFIER | HG01099.hp1 HG01975.hp1 HG02004.hp2 others(2): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0010a0004c0008others(1): Show | a0001c0001t0002a0002c0010t0001a0004c0008t0001others(1): Show | a0001c0001t0002g0246 a0002c0010t0001g0010 a0004c0008t0001g0188 others(2): Show |
5 | 67 | 0.0746 | 27 | c.-81 others(36): Show |
GLDC | ENSG00000178445.10 | transcript | ENST00000321612.8 | protein_coding | 587 | chr9 | TogoVar | |||||||
GLG1_chr16_74442440_74612114 | 74479051 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 11 | 0.0909 | 27 | c.182 others(46): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 11/25 | chr16 | TogoVar | |||||||
GLG1_chr16_74442440_74612114 | 74498447 | A | AAGTATAT others(20): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00621.hp1 HG01069.hp1 others(41): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0091 a0001c0001t0001g0156 a0001c0001t0001g0177 others(41): Show |
44 | 116 | 0.3793 | 27 | c.775 others(44): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 4/25 | chr16 | TogoVar | |||||||
GLG1_chr16_74442440_74612114 | 74498447 | A | AAGTGTAT others(20): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01109.hp2 HG04115.hp2 others(1): Show |
a0001a0004 | a0001c0003a0004c0009 | a0001c0003t0003a0001c0003t0010a0004c0009t0003 | a0001c0003t0003g0066 a0001c0003t0003g0070 a0001c0003t0010g0078 others(1): Show |
4 | 76 | 0.0526 | 27 | c.775 others(44): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 4/25 | chr16 | TogoVar |