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 | 62477301 | T | TCCTCCCT others(13): Show |
upstream_gene_variant | MODIFIER | HG03225.hp2 | a0002 | a0002c0006 | a0002c0006t0005 | a0002c0006t0005g0017 | 1 | 382 | 0.0026 | 20 | c.-13 others(31): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 1307 | chr20 | TogoVar | |||||||
GATA5_chr20_62458497_62480995 | 62477303 | T | TTTCCTTC others(13): Show |
upstream_gene_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0064 | 1 | 382 | 0.0026 | 20 | c.-13 others(31): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 1309 | chr20 | TogoVar | |||||||
GATA5_chr20_62458497_62480995 | 62477305 | T | TCCTCCCT others(13): Show |
upstream_gene_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0095 | 1 | 382 | 0.0026 | 20 | c.-13 others(31): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 1311 | chr20 | TogoVar | |||||||
GATA5_chr20_62458497_62480995 | 62477305 | T | TCCTTCCT others(13): Show |
upstream_gene_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0204 | 1 | 382 | 0.0026 | 20 | c.-13 others(31): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 1311 | chr20 | TogoVar | |||||||
GATA5_chr20_62458497_62480995 | 62477305 | T | TCTTTCCT others(13): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0092 | 1 | 382 | 0.0026 | 20 | c.-13 others(31): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 1311 | chr20 | TogoVar | |||||||
GATA5_chr20_62458497_62480995 | 62477305 | T | TCTTTCCT others(13): Show |
upstream_gene_variant | MODIFIER | HG00609.hp1 HG01517.hp1 NA18971.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0004t0005 | a0001c0001t0001g0001 a0001c0001t0004g0072 a0001c0004t0005g0271 |
3 | 382 | 0.0079 | 20 | c.-13 others(31): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 1311 | chr20 | TogoVar | |||||||
GATA5_chr20_62458497_62480995 | 62477305 | T | TCTTTCTT others(13): Show |
upstream_gene_variant | MODIFIER | HG01433.hp1 NA19058.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0028 a0001c0001t0006g0181 |
2 | 382 | 0.0052 | 20 | c.-13 others(31): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 1311 | chr20 | TogoVar | |||||||
GATA5_chr20_62458497_62480995 | 62477305 | T | TCTTTCTT others(13): Show |
upstream_gene_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0272 | 1 | 382 | 0.0026 | 20 | c.-13 others(31): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 1311 | chr20 | TogoVar | |||||||
GATA5_chr20_62458497_62480995 | 62477305 | T | TCTTTCTT others(13): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 HG01256.hp1 HG02698.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0005 | a0001c0001t0001g0159 a0001c0001t0001g0205 a0001c0001t0002g0174 others(1): Show |
4 | 382 | 0.0105 | 20 | c.-13 others(31): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 1311 | chr20 | TogoVar | |||||||
GATA5_chr20_62458497_62480995 | 62477305 | T | TCTTTCTT others(13): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0194 | 1 | 382 | 0.0026 | 20 | c.-13 others(31): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 1311 | chr20 | TogoVar | |||||||
GATA6_chr18_22164589_22207528 | 22204288 | C | CTCTTTCT others(13): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 HG02738.hp2 HG02886.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0154 a0001c0001t0001g0242 a0001c0001t0002g0030 others(1): Show |
4 | 286 | 0.0140 | 20 | c.*34 others(31): Show |
GATA6 | ENSG00000141448.11 | transcript | ENST00000269216.10 | protein_coding | 1761 | chr18 | TogoVar | |||||||
GATAD2B_chr1_153799725_153927972 | 153861795 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0317 | 1 | 349 | 0.0029 | 20 | c.-1- others(37): Show |
GATAD2B | ENSG00000143614.11 | transcript | ENST00000368655.5 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
GATAD2B_chr1_153799725_153927972 | 153861795 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01981.hp1 HG03669.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0267 a0001c0001t0001g0288 others(2): Show |
5 | 349 | 0.0143 | 20 | c.-1- others(37): Show |
GATAD2B | ENSG00000143614.11 | transcript | ENST00000368655.5 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
GATAD2B_chr1_153799725_153927972 | 153861795 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02300.hp1 HG02738.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0047 | a0001c0001t0001g0001 a0001c0001t0001g0244 a0001c0001t0001g0249 others(6): Show |
9 | 349 | 0.0258 | 20 | c.-1- others(37): Show |
GATAD2B | ENSG00000143614.11 | transcript | ENST00000368655.5 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
GATAD2B_chr1_153799725_153927972 | 153861795 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02071.hp2 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 a0001c0001t0001g0307 |
2 | 349 | 0.0057 | 20 | c.-1- others(37): Show |
GATAD2B | ENSG00000143614.11 | transcript | ENST00000368655.5 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
GATAD2B_chr1_153799725_153927972 | 153876227 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0057 | 1 | 349 | 0.0029 | 20 | c.-2+ others(37): Show |
GATAD2B | ENSG00000143614.11 | transcript | ENST00000368655.5 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
GATB_chr4_151665504_151766007 | 151697953 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0260 | 1 | 320 | 0.0031 | 20 | c.119 others(39): Show |
GATB | ENSG00000059691.12 | transcript | ENST00000263985.11 | protein_coding | 9/12 | chr4 | TogoVar | |||||||
GATB_chr4_151665504_151766007 | 151735734 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01109.hp2 HG01175.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 others(13): Show |
16 | 320 | 0.0500 | 20 | c.328 others(39): Show |
GATB | ENSG00000059691.12 | transcript | ENST00000263985.11 | protein_coding | 2/12 | chr4 | TogoVar | |||||||
GATB_chr4_151665504_151766007 | 151765852 | C | CAGAGAGA others(13): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG01978.hp2 HG03098.hp2 others(4): Show |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0001a0004c0008t0001 | a0001c0001t0001g0093 a0001c0001t0001g0123 a0001c0001t0001g0125 others(4): Show |
7 | 320 | 0.0219 | 20 | c.-48 others(31): Show |
GATB | ENSG00000059691.12 | transcript | ENST00000263985.11 | protein_coding | 4846 | chr4 | TogoVar | |||||||
GATC_chr12_120441444_120468749 | 120451875 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0152 | 1 | 408 | 0.0025 | 20 | c.254 others(37): Show |
GATC | ENSG00000257218.6 | transcript | ENST00000551765.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
GBA1_chr1_155229452_155246249 | 155244825 | A | AGAGCGAG others(13): Show |
upstream_gene_variant | MODIFIER | HG02683.hp2 HG03490.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0014 |
2 | 393 | 0.0051 | 20 | c.-37 others(31): Show |
GBA1 | ENSG00000177628.16 | transcript | ENST00000368373.8 | protein_coding | 3577 | chr1 | TogoVar | |||||||
GBE1_chr3_81484703_81766645 | 81546200 | G | GCACACAC others(13): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0007 | 1 | 304 | 0.0033 | 20 | c.161 others(39): Show |
GBE1 | ENSG00000114480.13 | transcript | ENST00000429644.7 | protein_coding | 12/15 | chr3 | TogoVar | |||||||
GBE1_chr3_81484703_81766645 | 81737413 | T | TTATATAA others(13): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00558.hp2 others(68): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0006a0002c0002others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0010others(8): Show | a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 others(68): Show |
71 | 304 | 0.2336 | 20 | c.143 others(39): Show |
GBE1 | ENSG00000114480.13 | transcript | ENST00000429644.7 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
GBF1_chr10_102240532_102387896 | 102242928 | C | CAAAAAAA others(13): Show |
upstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0017 | 1 | 330 | 0.0030 | 20 | c.-28 others(31): Show |
GBF1 | ENSG00000107862.7 | transcript | ENST00000369983.5 | protein_coding | 2603 | chr10 | TogoVar | |||||||
GBF1_chr10_102240532_102387896 | 102331851 | A | ATTTTTTT others(13): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02965.hp2 NA18522.hp1 |
a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0013 a0001c0004t0004g0014 a0001c0004t0004g0017 |
3 | 330 | 0.0091 | 20 | c.164 others(39): Show |
GBF1 | ENSG00000107862.7 | transcript | ENST00000369983.5 | protein_coding | 3/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GBGT1_chr9_133147948_133168914 | 133160311 | A | AATAATAA others(13): Show |
intron_variant | MODIFIER | NA19054.hp2 | a0015 | a0015c0035 | a0015c0035t0002 | a0015c0035t0002g0130 | 1 | 446 | 0.0022 | 20 | c.137 others(37): Show |
GBGT1 | ENSG00000148288.13 | transcript | ENST00000372040.9 | protein_coding | 3/6 | chr9 | TogoVar | |||||||
GBP3_chr1_89001680_89027866 | 89021510 | G | GCGCGCGC others(13): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0302 | 1 | 436 | 0.0023 | 20 | c.-22 others(35): Show |
GBP3 | ENSG00000117226.12 | transcript | ENST00000370481.9 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
GBP3_chr1_89001680_89027866 | 89021788 | T | TGAGAGAG others(13): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0160 | 1 | 436 | 0.0023 | 20 | c.-23 others(35): Show |
GBP3 | ENSG00000117226.12 | transcript | ENST00000370481.9 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
GBX2_chr2_236160236_236173386 | 236160238 | A | AGTGTGTG others(13): Show |
downstream_gene_variant | MODIFIER | HG02717.hp2 HG02922.hp1 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0010 | a0001c0001t0002g0002 a0001c0001t0004g0006 a0001c0001t0010g0010 |
3 | 342 | 0.0088 | 20 | c.*56 others(31): Show |
GBX2 | ENSG00000168505.7 | transcript | ENST00000306318.5 | protein_coding | 4997 | chr2 | TogoVar | |||||||
GCC2_chr2_108444206_108514415 | 108459745 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0127 | 1 | 276 | 0.0036 | 20 | c.216 others(37): Show |
GCC2 | ENSG00000135968.22 | transcript | ENST00000309863.11 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GCC2_chr2_108444206_108514415 | 108509733 | A | ATTTTTTT others(13): Show |
downstream_gene_variant | MODIFIER | NA19066.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0112 | 1 | 276 | 0.0036 | 20 | c.*21 others(31): Show |
GCC2 | ENSG00000135968.22 | transcript | ENST00000309863.11 | protein_coding | 319 | chr2 | TogoVar | |||||||
GCH1_chr14_54837017_54907826 | 54855505 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0031 | 1 | 346 | 0.0029 | 20 | c.509 others(37): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | TogoVar | |||||||
GCH1_chr14_54837017_54907826 | 54863848 | G | GTTGTTTG others(13): Show |
intron_variant | MODIFIER | NA18943.hp2 NA19009.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252 a0001c0001t0001g0299 |
2 | 346 | 0.0058 | 20 | c.453 others(37): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
GCH1_chr14_54837017_54907826 | 54905608 | A | ATCTCTCT others(13): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 HG02622.hp1 HG02976.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0064 a0001c0001t0002g0067 a0001c0001t0002g0071 others(1): Show |
4 | 346 | 0.0116 | 20 | c.-29 others(31): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2783 | chr14 | TogoVar | |||||||
GCM2_chr6_10868223_10887041 | 10883180 | C | CTTTTTTT others(13): Show |
upstream_gene_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 426 | 0.0024 | 20 | c.-13 others(31): Show |
GCM2 | ENSG00000124827.7 | transcript | ENST00000379491.5 | protein_coding | 1140 | chr6 | TogoVar | |||||||
GCNT2_chr6_10516351_10634368 | 10534139 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01993.hp1 HG02071.hp2 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0133 a0001c0001t0001g0154 a0001c0001t0001g0158 others(36): Show |
39 | 324 | 0.1204 | 20 | c.925 others(37): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GCNT2_chr6_10516351_10634368 | 10569235 | C | CCACACAC others(13): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00642.hp2 HG01071.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(2): Show | a0001c0001t0001g0060 a0001c0001t0001g0087 a0001c0001t0001g0140 others(17): Show |
20 | 324 | 0.0617 | 20 | c.925 others(39): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GCNT2_chr6_10550809_10634368 | 10569235 | C | CCACACAC others(13): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00642.hp2 HG01070.hp1 others(20): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(2): Show | a0001c0001t0001g0067 a0001c0001t0001g0093 a0001c0001t0001g0135 others(20): Show |
23 | 344 | 0.0669 | 20 | c.919 others(39): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000316170.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GCNT4_chr5_75020346_75057558 | 75032872 | G | GGTGGGTG others(13): Show |
intron_variant | MODIFIER | HG01361.hp2 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0222 a0001c0001t0004g0220 |
2 | 382 | 0.0052 | 20 | c.-1- others(35): Show |
GCNT4 | ENSG00000176928.7 | transcript | ENST00000652361.2 | protein_coding | 3/3 | chr5 | TogoVar | |||||||
GCNT4_chr5_75020346_75057558 | 75032872 | G | GGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0003 | a0003c0003 | a0003c0003t0029 | a0003c0003t0029g0092 | 1 | 382 | 0.0026 | 20 | c.-1- others(35): Show |
GCNT4 | ENSG00000176928.7 | transcript | ENST00000652361.2 | protein_coding | 3/3 | chr5 | TogoVar | |||||||
GC_chr4_71736697_71789079 | 71755148 | C | CTATTTAT others(13): Show |
intron_variant | MODIFIER | HG03831.hp2 NA18946.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0112 a0001c0001t0002g0274 a0001c0001t0002g0307 |
3 | 388 | 0.0077 | 20 | c.103 others(35): Show |
GC | ENSG00000145321.13 | transcript | ENST00000273951.13 | protein_coding | 8/12 | chr4 | TogoVar | |||||||
GDAP1L1_chr20_44242308_44285947 | 44276355 | A | AAAGGAAG others(13): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00673.hp2 others(41): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(23): Show |
44 | 392 | 0.1122 | 20 | c.761 others(37): Show |
GDAP1L1 | ENSG00000124194.17 | transcript | ENST00000342560.10 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
GDAP1L1_chr20_44242308_44285947 | 44276412 | A | AAAAGAAA others(13): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00621.hp2 others(53): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0027 a0001c0001t0001g0046 a0001c0001t0001g0168 others(50): Show |
56 | 392 | 0.1429 | 20 | c.761 others(37): Show |
GDAP1L1 | ENSG00000124194.17 | transcript | ENST00000342560.10 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
GDAP1L1_chr20_44242308_44285947 | 44281669 | T | TACACACA others(13): Show |
downstream_gene_variant | MODIFIER | HG01346.hp1 HG01943.hp2 HG01975.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0003g0004 others(1): Show |
6 | 392 | 0.0153 | 20 | c.*23 others(31): Show |
GDAP1L1 | ENSG00000124194.17 | transcript | ENST00000342560.10 | protein_coding | 723 | chr20 | TogoVar | |||||||
GDA_chr9_72144440_72257224 | 72198846 | G | GATATATA others(13): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02257.hp1 HG03209.hp1 others(4): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0003a0004c0004t0003 | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 others(4): Show |
7 | 312 | 0.0224 | 20 | c.212 others(37): Show |
GDA | ENSG00000119125.17 | transcript | ENST00000358399.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GDE1_chr16_19496693_19527098 | 19512927 | T | TTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0075 | 1 | 398 | 0.0025 | 20 | c.438 others(37): Show |
GDE1 | ENSG00000006007.12 | transcript | ENST00000353258.8 | protein_coding | 2/5 | chr16 | TogoVar | |||||||
GDF15_chr19_18381158_18394176 | 18387813 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02572.hp2 HG02630.hp1 others(2): Show |
a0002a0003a0004 | a0002c0002a0003c0003a0004c0004 | a0002c0002t0001a0003c0003t0001a0004c0004t0001 | a0002c0002t0001g0016 a0003c0003t0001g0016 a0004c0004t0001g0016 |
5 | 424 | 0.0118 | 20 | c.278 others(35): Show |
GDF15 | ENSG00000130513.7 | transcript | ENST00000252809.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GDF1_chr19_18863545_18901158 | 18863713 | A | AGGGCTCT others(13): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG01168.hp2 others(21): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0002a0003c0003t0003 | a0001c0001t0002g0238 a0001c0001t0002g0310 a0003c0003t0002g0006 others(16): Show |
24 | 380 | 0.0632 | 20 | c.*48 others(31): Show |
GDF1 | ENSG00000130283.9 | transcript | ENST00000247005.8 | protein_coding | 4831 | chr19 | TogoVar | |||||||
GDF3_chr12_7684784_7700775 | 7698933 | T | TAAATAAA others(13): Show |
upstream_gene_variant | MODIFIER | HG01361.hp2 HG02572.hp1 HG03130.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0049 others(1): Show |
4 | 468 | 0.0086 | 20 | c.-32 others(31): Show |
GDF3 | ENSG00000184344.4 | transcript | ENST00000329913.4 | protein_coding | 3159 | chr12 | TogoVar | |||||||
GDF3_chr12_7684784_7700775 | 7698933 | T | TAAATAAA others(13): Show |
upstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01123.hp1 others(67): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(25): Show |
70 | 468 | 0.1496 | 20 | c.-32 others(31): Show |
GDF3 | ENSG00000184344.4 | transcript | ENST00000329913.4 | protein_coding | 3159 | chr12 | TogoVar |