regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GGCX_chr2_85539720_85566493 | 85554454 | T | TTTGTTGT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00639.hp1 others(28): Show |
a0001a0002 | a0001c0003a0002c0002a0002c0004 | a0001c0003t0003a0002c0002t0004a0002c0002t0009others(3): Show | a0001c0003t0003g0079a0002c0002t0004g0005a0002c0002t0004g0032others(8): Show | 31 | 410 | 0.0756 | 9 | c.726 others(24): Show |
GGCX | ENSG00000115486.13 | transcript | ENST00000233838.9 | protein_coding | 6/14 | chr2 | TogoVar | ||||||
GGPS1_chr1_235323570_235349532 | 235347914 | A | AATTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG01981.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0009a0001c0001t0013 | a0001c0001t0007g0031a0001c0001t0007g0032a0001c0001t0007g0081others(4): Show | 9 | 392 | 0.0230 | 9 | c.*51 others(20): Show |
GGPS1 | ENSG00000152904.11 | transcript | ENST00000282841.9 | protein_coding | 3383 | chr1 | TogoVar | ||||||
GGT1_chr22_24598193_24633996 | 24605036 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01496.hp2 HG03139.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0278a0002c0002t0002g0279a0002c0002t0002g0311others(2): Show | 5 | 426 | 0.0117 | 9 | c.-42 others(28): Show |
GGT1 | ENSG00000100031.19 | transcript | ENST00000400382.6 | protein_coding | 1/15 | chr22 | TogoVar | ||||||
GGT1_chr22_24598193_24633996 | 24605051 | T | TAAAATGT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00735.hp2 HG01070.hp1 others(16): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0002a0002c0002t0002a0002c0005t0012 | a0001c0001t0002g0282a0001c0001t0002g0283a0001c0001t0002g0284others(16): Show | 19 | 426 | 0.0446 | 9 | c.-42 others(28): Show |
GGT1 | ENSG00000100031.19 | transcript | ENST00000400382.6 | protein_coding | 1/15 | chr22 | TogoVar | ||||||
GGT7_chr20_34839720_34877856 | 34845112 | T | TCACCACC others(2): Show |
3_prime_UTR_variant | MODIFIER | HG01884.hp2 HG02080.hp1 HG03516.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0006 | a0001c0001t0006g0008a0001c0001t0006g0035a0001c0001t0006g0067others(4): Show | 11 | 354 | 0.0311 | 9 | c.*20 others(18): Show |
GGT7 | ENSG00000131067.17 | transcript | ENST00000336431.10 | protein_coding | 15/15 | 215 | chr20 | TogoVar | |||||
GGTLC2_chr22_22639614_22652898 | 22644882 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02559.hp2 HG02818.hp2 others(9): Show |
a0001a0010 | a0001c0003a0001c0004a0001c0010others(1): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0007others(4): Show | a0001c0003t0001g0059a0001c0003t0002g0070a0001c0003t0007g0071others(9): Show | 12 | 412 | 0.0291 | 9 | c.-35 others(24): Show |
GGTLC2 | ENSG00000100121.14 | transcript | ENST00000448514.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
GIGYF2_chr2_232692331_232865605 | 232784386 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00621.hp2 others(24): Show |
a0001a0004 | a0001c0002a0001c0005a0001c0010others(1): Show | a0001c0002t0001a0001c0005t0001a0001c0005t0008others(3): Show | a0001c0002t0001g0196a0001c0005t0001g0194a0001c0005t0001g0195others(24): Show | 27 | 376 | 0.0718 | 9 | c.533 others(26): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 8/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GIGYF2_chr2_232692331_232865605 | 232799552 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02559.hp2 HG02896.hp2 |
a0002a0006 | a0002c0006a0006c0012 | a0002c0006t0007a0002c0006t0028a0006c0012t0007 | a0002c0006t0007g0370a0002c0006t0028g0369a0006c0012t0007g0374 | 3 | 376 | 0.0080 | 9 | c.163 others(28): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 14/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GIMAP2_chr7_150680706_150698641 | 150686973 | A | AAAGAAAA others(2): Show |
intron_variant | MODIFIER | HG02129.hp1 NA18946.hp2 NA18947.hp2 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0045a0002c0003t0001g0102a0002c0003t0001g0103 | 4 | 456 | 0.0088 | 9 | c.-8- others(20): Show |
GIMAP2 | ENSG00000106560.11 | transcript | ENST00000223293.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GIMAP6_chr7_150620375_150637385 | 150634591 | T | TAATGTCT others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(341): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0010others(5): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(19): Show | a0001c0001t0002g0011a0001c0001t0002g0015a0001c0001t0002g0028others(61): Show | 344 | 446 | 0.7713 | 9 | c.-24 others(20): Show |
GIMAP6 | ENSG00000133561.15 | transcript | ENST00000328902.9 | protein_coding | 2207 | chr7 | TogoVar | ||||||
GIMAP8_chr7_150445630_150484393 | 150446059 | A | ATTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG00609.hp1 HG00735.hp1 others(54): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0013 | a0001c0001t0001a0001c0002t0001a0001c0002t0009others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(32): Show | 57 | 372 | 0.1532 | 9 | c.-51 others(20): Show |
GIMAP8 | ENSG00000171115.4 | transcript | ENST00000307271.4 | protein_coding | 4570 | chr7 | TogoVar | ||||||
GIMD1_chr4_106352392_106373778 | 106366944 | T | TATAATAA others(2): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 HG03471.hp1 others(1): Show |
a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0026a0003c0004t0003g0054 | 4 | 452 | 0.0089 | 9 | c.393 others(22): Show |
GIMD1 | ENSG00000250298.6 | transcript | ENST00000638719.4 | protein_coding | 2/2 | chr4 | TogoVar | ||||||
GINS1_chr20_25402673_25453563 | 25423452 | C | CTTTTCTT others(2): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00673.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0235a0001c0001t0001g0236others(21): Show | 28 | 360 | 0.0778 | 9 | c.331 others(26): Show |
GINS1 | ENSG00000101003.12 | transcript | ENST00000262460.5 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
GINS2_chr16_85671198_85693954 | 85671439 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 HG00741.hp2 HG01069.hp1 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0012others(6): Show | a0001c0001t0002g0211a0001c0001t0003g0018a0001c0001t0003g0019others(22): Show | 26 | 470 | 0.0553 | 9 | c.*67 others(20): Show |
GINS2 | ENSG00000131153.9 | transcript | ENST00000253462.8 | protein_coding | 4758 | chr16 | TogoVar | ||||||
GINS4_chr8_41524261_41550030 | 41546849 | A | ATTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG01433.hp2 HG02698.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0011 | a0001c0001t0001g0001a0001c0001t0002g0009a0001c0001t0002g0041others(2): Show | 6 | 426 | 0.0141 | 9 | c.*47 others(20): Show |
GINS4 | ENSG00000147536.12 | transcript | ENST00000276533.4 | protein_coding | 1820 | chr8 | TogoVar | ||||||
GIPC1_chr19_14472762_14501127 | 14496041 | T | TCCGCCGC others(2): Show |
5_prime_UTR_variant | MODIFIER | HG00609.hp1 HG01884.hp2 HG02486.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0011a0001c0002t0044a0001c0003t0011others(2): Show | a0001c0001t0011g0337a0001c0002t0044g0336a0001c0003t0011g0334others(3): Show | 6 | 444 | 0.0135 | 9 | c.-18 others(18): Show |
GIPC1 | ENSG00000123159.16 | transcript | ENST00000393033.9 | protein_coding | 1/9 | 13066 | chr19 | TogoVar | |||||
GIPC2_chr1_78040966_78143444 | 78118247 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01109.hp2 HG02109.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0002g0261a0001c0001t0003g0101a0001c0001t0003g0116others(10): Show | 13 | 332 | 0.0392 | 9 | c.608 others(26): Show |
GIPC2 | ENSG00000137960.6 | transcript | ENST00000370759.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
GJB1_chrX_71218224_71230516 | 71219150 | C | CTTATTAT others(2): Show |
upstream_gene_variant | MODIFIER | HG01978.hp1 HG02273.hp1 HG03927.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 6 | 328 | 0.0183 | 9 | c.-42 others(20): Show |
GJB1 | ENSG00000169562.13 | transcript | ENST00000361726.7 | protein_coding | 4073 | chrX | TogoVar | ||||||
GK_chrX_30648423_30736462 | 30732363 | T | TATATATA others(2): Show |
downstream_gene_variant | MODIFIER | HG02698.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024a0001c0001t0001g0042 | 2 | 286 | 0.0070 | 9 | c.*36 others(20): Show |
GK | ENSG00000198814.14 | transcript | ENST00000427190.6 | protein_coding | 902 | chrX | TogoVar | ||||||
GLB1L3_chr11_134271379_134324564 | 134296836 | T | TATAATAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG00621.hp2 others(150): Show |
a0001a0002a0010 | a0001c0001a0001c0002a0001c0009others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(17): Show | a0001c0001t0001g0012a0001c0001t0001g0035a0001c0001t0001g0144others(137): Show | 153 | 422 | 0.3626 | 9 | c.876 others(26): Show |
GLB1L3 | ENSG00000166105.16 | transcript | ENST00000431683.7 | protein_coding | 9/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
GLB1L3_chr11_134271379_134324564 | 134308191 | C | CATCACCA others(2): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02145.hp2 HG02257.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0002t0001a0002c0004t0001 | a0001c0001t0001g0359a0001c0002t0001g0358a0001c0002t0001g0360others(3): Show | 6 | 422 | 0.0142 | 9 | c.961 others(24): Show |
GLB1L3 | ENSG00000166105.16 | transcript | ENST00000431683.7 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
GLB1L3_chr11_134271379_134324564 | 134308250 | C | CCACCACC others(2): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03041.hp1 HG03041.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112a0001c0001t0001g0113a0001c0001t0001g0114others(1): Show | 4 | 422 | 0.0095 | 9 | c.961 others(26): Show |
GLB1L3 | ENSG00000166105.16 | transcript | ENST00000431683.7 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
GLB1L3_chr11_134271379_134324564 | 134308335 | T | TCACCACC others(2): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02647.hp2 HG02717.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0006 | a0001c0001t0001a0001c0001t0002a0001c0002t0008others(1): Show | a0001c0001t0001g0147a0001c0001t0001g0148a0001c0001t0001g0153others(5): Show | 8 | 422 | 0.0190 | 9 | c.961 others(26): Show |
GLB1L3 | ENSG00000166105.16 | transcript | ENST00000431683.7 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
GLB1L3_chr11_134271379_134324564 | 134308393 | C | CATCACCA others(2): Show |
intron_variant | MODIFIER | HG01257.hp2 HG02109.hp1 NA19070.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0301a0001c0001t0002g0347a0001c0001t0002g0348 | 3 | 422 | 0.0071 | 9 | c.961 others(26): Show |
GLB1L3 | ENSG00000166105.16 | transcript | ENST00000431683.7 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
GLB1_chr3_32991617_33102146 | 33022564 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG01074.hp1 others(21): Show |
a0001a0004 | a0001c0001a0001c0005a0004c0007 | a0001c0001t0001a0001c0005t0001a0001c0005t0002others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0016others(21): Show | 24 | 394 | 0.0609 | 9 | c.114 others(26): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 11/15 | chr3 | TogoVar | ||||||
GLB1_chr3_32991617_33102146 | 33042370 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01243.hp2 HG02572.hp2 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0005a0001c0005t0001others(1): Show | a0001c0001t0001g0032a0001c0001t0005g0393a0001c0005t0001g0235others(3): Show | 6 | 394 | 0.0152 | 9 | c.106 others(28): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 10/15 | chr3 | TogoVar | ||||||
GLB1_chr3_32991617_33102146 | 33051615 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00639.hp2 others(23): Show |
a0001 | a0001c0001a0001c0010a0001c0011 | a0001c0001t0001a0001c0010t0001a0001c0011t0001 | a0001c0001t0001g0056a0001c0001t0001g0108a0001c0001t0001g0128others(23): Show | 26 | 394 | 0.0660 | 9 | c.955 others(24): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 9/15 | chr3 | TogoVar | ||||||
GLB1_chr3_32991617_33102146 | 33064776 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00673.hp1 HG01168.hp1 others(24): Show |
a0001a0010 | a0001c0001a0001c0006a0010c0015 | a0001c0001t0001a0001c0006t0001a0010c0015t0001 | a0001c0001t0001g0074a0001c0001t0001g0078a0001c0001t0001g0081others(24): Show | 27 | 394 | 0.0685 | 9 | c.552 others(24): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 5/15 | chr3 | TogoVar | ||||||
GLB1_chr3_32991617_33102146 | 33067456 | A | ATTTTTAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(356): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(356): Show | 359 | 394 | 0.9112 | 9 | c.457 others(24): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 4/15 | chr3 | TogoVar | ||||||
GLCE_chr15_69155635_69277207 | 69273450 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG01167.hp2 HG01884.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008 | a0001c0001t0003g0004a0001c0001t0003g0148a0001c0001t0003g0150others(7): Show | 10 | 342 | 0.0292 | 9 | c.*42 others(20): Show |
GLCE | ENSG00000138604.10 | transcript | ENST00000261858.7 | protein_coding | 1244 | chr15 | TogoVar | ||||||
GLDC_chr9_6527467_6650729 | 6585892 | C | CTATCTAT others(2): Show |
intron_variant | MODIFIER | HG01516.hp2 HG02257.hp2 HG02615.hp1 others(6): Show |
a0001a0002a0011 | a0001c0001a0001c0005a0001c0013others(2): Show | a0001c0001t0003a0001c0005t0001a0001c0005t0012others(4): Show | a0001c0001t0003g0160a0001c0005t0001g0165a0001c0005t0001g0324others(6): Show | 9 | 342 | 0.0263 | 9 | c.185 others(28): Show |
GLDC | ENSG00000178445.10 | transcript | ENST00000321612.8 | protein_coding | 15/24 | chr9 | TogoVar | ||||||
GLDC_chr9_6527467_6650729 | 6644029 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00558.hp1 others(50): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0105a0001c0001t0001g0106a0001c0001t0001g0109others(50): Show | 53 | 342 | 0.1550 | 9 | c.334 others(24): Show |
GLDC | ENSG00000178445.10 | transcript | ENST00000321612.8 | protein_coding | 2/24 | chr9 | TogoVar | ||||||
GLDC_chr9_6527467_6650729 | 6644050 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02135.hp1 HG02257.hp1 HG02258.hp2 others(6): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(2): Show | a0001c0001t0001g0236a0001c0002t0001g0078a0001c0004t0001g0237others(6): Show | 9 | 342 | 0.0263 | 9 | c.334 others(24): Show |
GLDC | ENSG00000178445.10 | transcript | ENST00000321612.8 | protein_coding | 2/24 | chr9 | TogoVar | ||||||
GLG1_chr16_74442440_74612114 | 74506581 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG00609.hp1 others(48): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0024others(12): Show | a0001c0001t0001g0060a0001c0001t0001g0090a0001c0001t0001g0091others(48): Show | 51 | 342 | 0.1491 | 9 | c.558 others(26): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 3/25 | chr16 | TogoVar | ||||||
GLG1_chr16_74442440_74612114 | 74539990 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02809.hp1 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0033 | a0001c0001t0002g0292a0001c0001t0002g0293a0001c0001t0033g0300 | 3 | 342 | 0.0088 | 9 | c.439 others(26): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 1/25 | chr16 | TogoVar | ||||||
GLG1_chr16_74442440_74612114 | 74539999 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02809.hp1 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0033 | a0001c0001t0002g0292a0001c0001t0002g0293a0001c0001t0033g0300 | 3 | 342 | 0.0088 | 9 | c.439 others(26): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 1/25 | chr16 | TogoVar | ||||||
GLG1_chr16_74442440_74612114 | 74546837 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG00609.hp1 others(80): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(16): Show | a0001c0001t0001g0180a0001c0001t0001g0225a0001c0001t0001g0227others(80): Show | 83 | 342 | 0.2427 | 9 | c.439 others(28): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 1/25 | chr16 | TogoVar | ||||||
GLG1_chr16_74442440_74612114 | 74574883 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00544.hp1 others(20): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0090a0001c0001t0001g0225a0001c0001t0001g0227others(20): Show | 23 | 342 | 0.0673 | 9 | c.438 others(28): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 1/25 | chr16 | TogoVar | ||||||
GLG1_chr16_74442440_74612114 | 74575006 | C | CGGGGGGG others(2): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00741.hp1 HG01123.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0170a0001c0001t0001g0236a0001c0001t0001g0237others(15): Show | 18 | 342 | 0.0526 | 9 | c.438 others(28): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 1/25 | chr16 | TogoVar | ||||||
GLG1_chr16_74442440_74612114 | 74603090 | A | AAACAACA others(2): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02809.hp2 HG03486.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0219a0001c0003t0008g0220a0001c0003t0008g0221others(1): Show | 4 | 342 | 0.0117 | 9 | c.438 others(26): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 1/25 | chr16 | TogoVar | ||||||
GLI2_chr2_120730868_120997653 | 120742679 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG01071.hp1 others(20): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0001c0007others(8): Show | a0001c0002t0001a0001c0002t0005a0001c0002t0007others(17): Show | a0001c0002t0001g0025a0001c0002t0005g0026a0001c0002t0007g0156others(20): Show | 23 | 160 | 0.1438 | 9 | c.-31 others(26): Show |
GLI2 | ENSG00000074047.22 | transcript | ENST00000361492.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GLI2_chr2_120730868_120997653 | 120800473 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02257.hp2 |
a0001a0004 | a0001c0025a0004c0008 | a0001c0025t0011a0004c0008t0037 | a0001c0025t0011g0053a0004c0008t0037g0054 | 2 | 160 | 0.0125 | 9 | c.148 others(26): Show |
GLI2 | ENSG00000074047.22 | transcript | ENST00000361492.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GLI2_chr2_120730868_120997653 | 120800473 | T | TTTTTTAT others(2): Show |
intron_variant | MODIFIER | HG02559.hp2 HG03041.hp1 NA21309.hp2 |
a0001a0008 | a0001c0003a0008c0031 | a0001c0003t0005a0001c0003t0010a0008c0031t0017 | a0001c0003t0005g0052a0001c0003t0010g0106a0008c0031t0017g0008 | 3 | 160 | 0.0188 | 9 | c.148 others(26): Show |
GLI2 | ENSG00000074047.22 | transcript | ENST00000361492.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GLI3_chr7_41955949_42242209 | 42188002 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00741.hp2 others(16): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0001c0009others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(11): Show | a0001c0001t0001g0035a0001c0001t0001g0080a0001c0001t0001g0089others(16): Show | 19 | 158 | 0.1203 | 9 | c.124 others(28): Show |
GLI3 | ENSG00000106571.15 | transcript | ENST00000395925.8 | protein_coding | 2/14 | chr7 | TogoVar | ||||||
GLI3_chr7_41955949_42242209 | 42194759 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00544.hp2 HG01256.hp2 others(16): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(11): Show | a0001c0001t0001g0020a0001c0001t0001g0038a0001c0001t0001g0100others(16): Show | 19 | 158 | 0.1203 | 9 | c.124 others(28): Show |
GLI3 | ENSG00000106571.15 | transcript | ENST00000395925.8 | protein_coding | 2/14 | chr7 | TogoVar | ||||||
GLI3_chr7_41955949_42242209 | 42238003 | G | GCCTCCTC others(2): Show |
upstream_gene_variant | MODIFIER | HG02257.hp2 HG02723.hp2 HG02818.hp2 others(4): Show |
a0001a0004 | a0001c0001a0001c0009a0004c0004 | a0001c0001t0006a0001c0001t0011a0001c0001t0013others(4): Show | a0001c0001t0006g0086a0001c0001t0011g0084a0001c0001t0013g0113others(4): Show | 7 | 158 | 0.0443 | 9 | c.-10 others(20): Show |
GLI3 | ENSG00000106571.15 | transcript | ENST00000395925.8 | protein_coding | 795 | chr7 | TogoVar | ||||||
GLIPR1L2_chr12_75386089_75437688 | 75394763 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00735.hp2 HG00738.hp1 others(24): Show |
a0001a0002a0003 | a0001c0003a0002c0005a0003c0006 | a0001c0003t0003a0002c0005t0003a0003c0006t0008 | a0001c0003t0003g0009a0001c0003t0003g0018a0001c0003t0003g0019others(20): Show | 27 | 360 | 0.0750 | 9 | c.234 others(26): Show |
GLIPR1L2 | ENSG00000180481.11 | transcript | ENST00000550916.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
GLIPR1_chr12_75475755_75508863 | 75506616 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00621.hp1 HG02572.hp1 HG02723.hp2 others(6): Show |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0003a0001c0001t0016a0001c0001t0018others(1): Show | a0001c0001t0003g0132a0001c0001t0003g0147a0001c0001t0003g0165others(6): Show | 9 | 362 | 0.0249 | 9 | c.*76 others(20): Show |
GLIPR1 | ENSG00000139278.10 | transcript | ENST00000266659.8 | protein_coding | 2754 | chr12 | TogoVar | ||||||
GLIS1_chr1_53501239_53744164 | 53522986 | C | CTTTTTCT others(2): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02145.hp2 HG02451.hp1 others(16): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(7): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(14): Show | a0001c0001t0002g0232a0001c0001t0004g0229a0001c0001t0005g0097others(16): Show | 19 | 236 | 0.0805 | 9 | c.159 others(28): Show |
GLIS1 | ENSG00000174332.6 | transcript | ENST00000628545.2 | protein_coding | 6/10 | chr1 | TogoVar | ||||||
GLIS3_chr9_3819127_4305068 | 3991683 | A | AATTTTTT others(2): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01243.hp1 HG01891.hp1 |
a0001a0003 | a0001c0001a0003c0004a0003c0025 | a0001c0001t0004a0003c0004t0006a0003c0025t0051 | a0001c0001t0004g0081a0003c0004t0006g0018a0003c0025t0051g0037 | 3 | 188 | 0.0160 | 9 | c.171 others(30): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 4/10 | chr9 | TogoVar |