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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GCA_chr2_162339132_162368123 | 162341267 | T | TATATATA others(8): Show |
upstream_gene_variant | MODIFIER | HG01070.hp1 HG01070.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0018 |
2 | 366 | 0.0055 | 15 | c.-29 others(26): Show |
GCA | ENSG00000115271.11 | transcript | ENST00000437150.7 | protein_coding | 2864 | chr2 | TogoVar | |||||||
GCA_chr2_162339132_162368123 | 162345093 | A | ATGGTGGT others(8): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01106.hp2 HG01192.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(2): Show | a0001c0001t0001g0014 a0001c0001t0001g0064 a0001c0001t0001g0070 others(6): Show |
11 | 366 | 0.0301 | 15 | c.27+ others(28): 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(8): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02738.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0080 a0001c0001t0001g0137 a0001c0001t0007g0081 |
3 | 366 | 0.0082 | 15 | c.27+ others(28): Show |
GCA | ENSG00000115271.11 | transcript | ENST00000437150.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GCC2_chr2_108444206_108514415 | 108509733 | A | ATTTTTTT others(8): Show |
downstream_gene_variant | MODIFIER | HG01074.hp1 HG01074.hp2 HG01099.hp2 others(15): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0003a0001c0001t0005a0001c0001t0011others(4): Show | a0001c0001t0003g0004 a0001c0001t0003g0099 a0001c0001t0003g0103 others(15): Show |
18 | 276 | 0.0652 | 15 | c.*21 others(26): Show |
GCC2 | ENSG00000135968.22 | transcript | ENST00000309863.11 | protein_coding | 319 | chr2 | TogoVar | |||||||
GCGR_chr17_81799150_81819008 | 81817446 | C | CAAACAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 HG00642.hp1 HG00741.hp1 others(53): Show |
a0001a0003a0010others(2): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0002others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(26): Show |
56 | 408 | 0.1373 | 15 | c.*37 others(26): Show |
GCGR | ENSG00000215644.10 | transcript | ENST00000400723.8 | protein_coding | 3439 | chr17 | TogoVar | |||||||
GCH1_chr14_54837017_54907826 | 54855505 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02572.hp1 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0013 | a0001c0001t0008g0231 a0001c0001t0008g0301 a0001c0001t0013g0006 |
3 | 346 | 0.0087 | 15 | c.509 others(32): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | TogoVar | |||||||
GCH1_chr14_54837017_54907826 | 54880520 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0265 | 1 | 346 | 0.0029 | 15 | c.344 others(34): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | TogoVar | |||||||
GCH1_chr14_54837017_54907826 | 54907804 | C | CATAAGGA others(8): Show |
upstream_gene_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0287 | 1 | 346 | 0.0029 | 15 | c.-51 others(26): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 4979 | chr14 | TogoVar | |||||||
GCK_chr7_44139275_44194439 | 44165345 | A | AAATAATA others(8): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0172 | 1 | 392 | 0.0026 | 15 | c.46- others(32): Show |
GCK | ENSG00000106633.18 | transcript | ENST00000403799.8 | protein_coding | 1/9 | chr7 | TogoVar | |||||||
GCK_chr7_44139275_44194439 | 44174848 | C | CTCTTCTT others(8): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0316 | 1 | 392 | 0.0026 | 15 | c.45+ others(32): Show |
GCK | ENSG00000106633.18 | transcript | ENST00000403799.8 | protein_coding | 1/9 | chr7 | TogoVar | |||||||
GCK_chr7_44139275_44194439 | 44174854 | C | CTCTTCCT others(8): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0116 | 1 | 392 | 0.0026 | 15 | c.45+ others(32): Show |
GCK | ENSG00000106633.18 | transcript | ENST00000403799.8 | protein_coding | 1/9 | chr7 | TogoVar | |||||||
GCK_chr7_44139275_44194439 | 44174854 | C | CTCTTCCT others(8): Show |
intron_variant | MODIFIER | NA19074.hp2 NA19077.hp1 NA19084.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0001g0190 a0001c0001t0003g0277 a0001c0001t0007g0339 others(1): Show |
4 | 392 | 0.0102 | 15 | c.45+ others(32): Show |
GCK | ENSG00000106633.18 | transcript | ENST00000403799.8 | protein_coding | 1/9 | chr7 | TogoVar | |||||||
GCK_chr7_44139275_44194439 | 44174854 | C | CTCTTCTT others(8): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00673.hp2 HG01106.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0098 a0001c0001t0001g0119 a0001c0001t0001g0198 others(11): Show |
14 | 392 | 0.0357 | 15 | c.45+ others(32): Show |
GCK | ENSG00000106633.18 | transcript | ENST00000403799.8 | protein_coding | 1/9 | chr7 | TogoVar | |||||||
GCK_chr7_44139275_44194439 | 44174915 | T | TCTTCTTC others(8): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01891.hp2 HG02015.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0007 a0001c0001t0001g0054 a0001c0001t0001g0055 others(10): Show |
17 | 392 | 0.0434 | 15 | c.45+ others(32): Show |
GCK | ENSG00000106633.18 | transcript | ENST00000403799.8 | protein_coding | 1/9 | chr7 | TogoVar | |||||||
GCM1_chr6_53121961_53153841 | 53128028 | C | CAAAAAAA others(8): Show |
3_prime_UTR_variant | MODIFIER | HG01261.hp2 HG02300.hp2 HG03098.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0036 a0001c0001t0014g0190 a0001c0001t0014g0217 others(4): Show |
7 | 412 | 0.0170 | 15 | c.*16 others(24): Show |
GCM1 | ENSG00000137270.11 | transcript | ENST00000259803.8 | protein_coding | 6/6 | 177 | chr6 | TogoVar | ||||||
GCM2_chr6_10868223_10887041 | 10883180 | C | CTTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | NA18965.hp1 NA18982.hp1 NA18984.hp1 others(4): Show |
a0001a0011 | a0001c0001a0011c0013 | a0001c0001t0001a0011c0013t0001 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(1): Show |
7 | 426 | 0.0164 | 15 | c.-13 others(26): Show |
GCM2 | ENSG00000124827.7 | transcript | ENST00000379491.5 | protein_coding | 1140 | chr6 | TogoVar | |||||||
GCNT2_chr6_10516351_10634368 | 10538437 | A | AAAAATAT others(8): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 324 | 0.0031 | 15 | c.925 others(32): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GCNT2_chr6_10516351_10634368 | 10538437 | A | AAATATAT others(8): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02818.hp2 HG03209.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 others(1): Show |
4 | 324 | 0.0124 | 15 | c.925 others(32): 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(8): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 324 | 0.0031 | 15 | c.925 others(34): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | chr6 | TogoVar | |||||||
GCNT2_chr6_10516351_10634368 | 10592095 | A | AAACGTCA others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01099.hp1 HG01099.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0001g0032 a0001c0001t0001g0125 a0001c0001t0001g0192 others(5): Show |
8 | 324 | 0.0247 | 15 | c.926 others(34): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GCNT2_chr6_10516351_10634368 | 10617750 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG03516.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0266 a0001c0001t0009g0006 |
2 | 324 | 0.0062 | 15 | c.926 others(32): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GCNT2_chr6_10550809_10634368 | 10569274 | C | CACACACA others(8): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 344 | 0.0029 | 15 | c.919 others(34): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000316170.9 | protein_coding | 1/2 | chr6 | TogoVar | |||||||
GCNT2_chr6_10550809_10634368 | 10592095 | A | AAACGTCA others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01099.hp1 HG01099.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0001g0056 a0001c0001t0001g0067 a0001c0001t0001g0189 others(6): Show |
9 | 344 | 0.0262 | 15 | c.920 others(34): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000316170.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GCNT2_chr6_10550809_10634368 | 10617750 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG03516.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008 | a0001c0001t0004g0276 a0001c0001t0008g0335 |
2 | 344 | 0.0058 | 15 | c.920 others(32): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000316170.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GCNT3_chr15_59606783_59627723 | 59610971 | C | CCCCCTCC others(8): Show |
upstream_gene_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 428 | 0.0023 | 15 | c.-12 others(26): Show |
GCNT3 | ENSG00000140297.13 | transcript | ENST00000396065.3 | protein_coding | 811 | chr15 | TogoVar | |||||||
GCNT3_chr15_59606783_59627723 | 59621586 | A | ATTTTTTT others(8): Show |
3_prime_UTR_variant | MODIFIER | HG02965.hp2 HG03834.hp2 |
a0001a0005 | a0001c0002a0005c0011 | a0001c0002t0102a0005c0011t0050 | a0001c0002t0102g0046 a0005c0011t0050g0055 |
2 | 428 | 0.0047 | 15 | c.*20 others(26): Show |
GCNT3 | ENSG00000140297.13 | transcript | ENST00000396065.3 | protein_coding | 3/3 | 2037 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GCSH_chr16_81076945_81101395 | 81080667 | A | ATTTTTTT others(8): Show |
downstream_gene_variant | MODIFIER | NA18939.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0002 | 1 | 354 | 0.0028 | 15 | c.*21 others(26): Show |
GCSH | ENSG00000140905.11 | transcript | ENST00000315467.9 | protein_coding | 1277 | chr16 | TogoVar | |||||||
GCSH_chr16_81076945_81101395 | 81086738 | C | CGAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00558.hp1 others(63): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0016others(6): Show | a0001c0001t0002g0094 a0001c0001t0002g0119 a0001c0001t0002g0135 others(24): Show |
66 | 354 | 0.1864 | 15 | c.292 others(30): Show |
GCSH | ENSG00000140905.11 | transcript | ENST00000315467.9 | protein_coding | 3/4 | chr16 | TogoVar | |||||||
GC_chr4_71736697_71789079 | 71778891 | G | GTTATTGT others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00544.hp1 HG00735.hp1 others(7): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0002c0002t0002a0003c0003t0001 | a0002c0002t0001g0027 a0002c0002t0002g0252 a0003c0003t0001g0047 others(6): Show |
10 | 388 | 0.0258 | 15 | c.58+ others(30): Show |
GC | ENSG00000145321.13 | transcript | ENST00000273951.13 | protein_coding | 1/12 | chr4 | TogoVar | |||||||
GDAP1L1_chr20_44242308_44285947 | 44281703 | C | CACACACA others(8): Show |
downstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0133 | 1 | 392 | 0.0026 | 15 | c.*24 others(26): Show |
GDAP1L1 | ENSG00000124194.17 | transcript | ENST00000342560.10 | protein_coding | 757 | chr20 | TogoVar | |||||||
GDE1_chr16_19496693_19527098 | 19496887 | C | CAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG03471.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0193 a0001c0001t0011g0194 |
2 | 398 | 0.0050 | 15 | c.*65 others(26): Show |
GDE1 | ENSG00000006007.12 | transcript | ENST00000353258.8 | protein_coding | 4805 | chr16 | TogoVar | |||||||
GDF10_chr10_47295197_47318577 | 47296866 | C | CTTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 HG01106.hp1 HG02027.hp1 |
a0001a0005 | a0001c0001a0005c0010 | a0001c0001t0001a0005c0010t0001 | a0001c0001t0001g0005 a0001c0001t0001g0124 a0005c0010t0001g0105 |
3 | 398 | 0.0075 | 15 | c.-37 others(26): Show |
GDF10 | ENSG00000266524.3 | transcript | ENST00000580279.2 | protein_coding | 3330 | chr10 | TogoVar | |||||||
GDF15_chr19_18381158_18394176 | 18387812 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0042 | 1 | 424 | 0.0024 | 15 | c.278 others(30): Show |
GDF15 | ENSG00000130513.7 | transcript | ENST00000252809.3 | protein_coding | 1/1 | chr19 | TogoVar | |||||||
GDF15_chr19_18381158_18394176 | 18387813 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01069.hp1 HG01069.hp2 others(18): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0007a0002c0002t0001a0002c0002t0006others(1): Show | a0001c0001t0007g0046 a0002c0002t0001g0007 a0002c0002t0006g0007 others(1): Show |
21 | 424 | 0.0495 | 15 | c.278 others(30): Show |
GDF15 | ENSG00000130513.7 | transcript | ENST00000252809.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GDF5_chr20_35428347_35443228 | 35438860 | T | TGTGTGTG others(8): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG02970.hp1 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0012a0003c0004t0002 | a0001c0001t0012g0083 a0003c0004t0002g0037 |
2 | 360 | 0.0056 | 15 | c.-93 others(24): Show |
GDF5 | ENSG00000125965.9 | transcript | ENST00000374369.8 | protein_coding | 633 | chr20 | TogoVar | |||||||
GDF6_chr8_96137333_96165806 | 96144244 | T | TGAGAGAG others(8): Show |
3_prime_UTR_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0066 | a0001c0001t0066g0193 | 1 | 368 | 0.0027 | 15 | c.*31 others(24): Show |
GDF6 | ENSG00000156466.11 | transcript | ENST00000287020.7 | protein_coding | 2/2 | 318 | chr8 | TogoVar | ||||||
GDF7_chr2_20662144_20684243 | 20667362 | G | GGGCGGCG others(8): Show |
disruptive_inframe_insertion | MODERATE | NA19043.hp2 | a0023 | a0023c0025 | a0023c0025t0241 | a0023c0025t0241g0001 | 1 | 442 | 0.0023 | 15 | c.135 others(22): 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 | ||
GDF9_chr5_132856185_132871469 | 132860525 | A | ACACAAAC others(8): Show |
downstream_gene_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 464 | 0.0022 | 15 | c.*10 others(26): Show |
GDF9 | ENSG00000164404.9 | transcript | ENST00000687138.1 | protein_coding | 659 | chr5 | TogoVar | |||||||
GDI2_chr10_5760223_5818434 | 5809244 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA18949.hp2 NA18960.hp2 NA19002.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 |
3 | 398 | 0.0075 | 15 | c.45+ others(30): Show |
GDI2 | ENSG00000057608.17 | transcript | ENST00000380191.9 | protein_coding | 1/10 | chr10 | TogoVar | |||||||
GDNF_chr5_37807677_37845041 | 37815487 | T | TTCCTCCT others(8): Show |
3_prime_UTR_variant | MODIFIER | HG01891.hp2 HG02723.hp2 HG02809.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0031a0001c0001t0032a0001c0001t0099others(1): Show | a0001c0001t0031g0030 a0001c0001t0032g0061 a0001c0001t0032g0240 others(2): Show |
8 | 430 | 0.0186 | 15 | c.*14 others(24): Show |
GDNF | ENSG00000168621.15 | transcript | ENST00000326524.7 | protein_coding | 3/3 | 163 | chr5 | TogoVar | ||||||
GDPD1_chr17_59215511_59280970 | 59222505 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01099.hp2 HG01515.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0027 | a0001c0001t0001g0033 a0001c0001t0001g0041 a0001c0001t0001g0044 others(6): Show |
9 | 312 | 0.0289 | 15 | c.142 others(32): Show |
GDPD1 | ENSG00000153982.11 | transcript | ENST00000284116.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GDPD1_chr17_59215511_59280970 | 59261913 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0258 | 1 | 312 | 0.0032 | 15 | c.576 others(32): Show |
GDPD1 | ENSG00000153982.11 | transcript | ENST00000284116.9 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GDPD3_chr16_30099810_30118537 | 30110860 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01070.hp2 HG01109.hp2 others(58): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0023 others(39): Show |
61 | 390 | 0.1564 | 15 | c.707 others(30): Show |
GDPD3 | ENSG00000102886.15 | transcript | ENST00000406256.8 | protein_coding | 7/9 | chr16 | TogoVar | |||||||
GDPD4_chr11_77211558_77306686 | 77235009 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01433.hp2 HG01517.hp1 NA18967.hp1 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0011 a0003c0003t0002g0029 a0003c0003t0002g0068 others(1): Show |
4 | 350 | 0.0114 | 15 | c.124 others(34): Show |
GDPD4 | ENSG00000178795.10 | transcript | ENST00000315938.5 | protein_coding | 13/16 | chr11 | TogoVar | |||||||
GDPD5_chr11_75429640_75530941 | 75512325 | C | CACACACA others(8): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0248 | 1 | 322 | 0.0031 | 15 | c.-14 others(36): Show |
GDPD5 | ENSG00000158555.15 | transcript | ENST00000336898.8 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
GEMIN6_chr2_38773210_38790002 | 38779664 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0084 | 1 | 412 | 0.0024 | 15 | c.128 others(30): Show |
GEMIN6 | ENSG00000152147.11 | transcript | ENST00000281950.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GEMIN6_chr2_38773210_38790002 | 38779664 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0088 | 1 | 412 | 0.0024 | 15 | c.128 others(30): Show |
GEMIN6 | ENSG00000152147.11 | transcript | ENST00000281950.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GEMIN6_chr2_38773210_38790002 | 38779665 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0060 | 1 | 412 | 0.0024 | 15 | c.128 others(30): Show |
GEMIN6 | ENSG00000152147.11 | transcript | ENST00000281950.8 | protein_coding | 2/2 | chr2 | TogoVar | |||||||
GET1_chr21_39375326_39402889 | 39377784 | G | GTTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG02572.hp2 HG02630.hp2 HG02886.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009 | a0001c0001t0001g0001 a0001c0001t0002g0005 a0001c0001t0002g0059 others(2): Show |
11 | 338 | 0.0325 | 15 | c.-26 others(26): Show |
GET1 | ENSG00000182093.16 | transcript | ENST00000649170.1 | protein_coding | 2541 | chr21 | TogoVar | |||||||
GFM2_chr5_74716206_74772117 | 74748890 | T | TAAATAAA others(8): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0245 | 1 | 372 | 0.0027 | 15 | c.520 others(32): Show |
GFM2 | ENSG00000164347.18 | transcript | ENST00000296805.8 | protein_coding | 7/20 | chr5 | TogoVar |