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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GIGYF2_chr2_232692331_232865605 | 232797981 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00597.hp2 others(49): Show |
a0001a0002 | a0001c0002a0002c0004a0002c0006others(1): Show | a0001c0002t0001a0002c0004t0001a0002c0006t0001others(1): Show | a0001c0002t0001g0363 a0002c0004t0001g0192 a0002c0004t0001g0245 others(49): Show |
52 | 142 | 0.3662 | -9 | c.163 others(28): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 14/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GIGYF2_chr2_232692331_232865605 | 232802908 | TTTTTTTT others(2): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG02055.hp2 HG02572.hp1 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 others(6): Show |
9 | 374 | 0.0241 | -9 | c.164 others(28): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 14/28 | chr2 | TogoVar | |||||||
GIGYF2_chr2_232692331_232865605 | 232806835 | AAACTCGA others(2): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00544.hp2 others(33): Show |
a0001a0004a0007others(1): Show | a0001c0005a0001c0008a0004c0009others(2): Show | a0001c0005t0001a0001c0005t0008a0001c0005t0022others(4): Show | a0001c0005t0001g0194 a0001c0005t0001g0195 a0001c0005t0001g0197 others(33): Show |
36 | 374 | 0.0963 | -9 | c.180 others(26): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 15/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GIGYF2_chr2_232692331_232865605 | 232841461 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(163): Show |
a0001a0002a0004others(4): Show | a0001c0002a0001c0003a0001c0005others(9): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0012others(18): Show | a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0235 others(163): Show |
166 | 268 | 0.6194 | -9 | c.288 others(28): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GIMAP2_chr7_150680706_150698641 | 150687146 | GTGTGTGT others(2): Show |
G | intron_variant | MODIFIER | NA18993.hp1 NA18998.hp1 NA19084.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0056 a0001c0002t0001g0137 |
3 | 453 | 0.0066 | -9 | c.28+ others(20): Show |
GIMAP2 | ENSG00000106560.11 | transcript | ENST00000223293.10 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GINS1_chr20_25402673_25453563 | 25423452 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01515.hp1 HG01975.hp1 HG02922.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0002g0063 a0001c0001t0005g0158 a0001c0001t0006g0021 others(5): Show |
8 | 36 | 0.2222 | -9 | c.331 others(26): Show |
GINS1 | ENSG00000101003.12 | transcript | ENST00000262460.5 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
GINS1_chr20_25402673_25453563 | 25428969 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG01361.hp2 HG02145.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0153 others(10): Show |
13 | 31 | 0.4194 | -9 | c.447 others(26): Show |
GINS1 | ENSG00000101003.12 | transcript | ENST00000262460.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
GINS4_chr8_41524261_41550030 | 41525943 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG02572.hp2 HG02630.hp2 HG02896.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0014 a0001c0001t0002g0065 a0001c0001t0004g0063 others(1): Show |
7 | 22 | 0.3182 | -9 | c.-34 others(20): Show |
GINS4 | ENSG00000147536.12 | transcript | ENST00000276533.4 | protein_coding | 3317 | chr8 | TogoVar | |||||||
GINS4_chr8_41524261_41550030 | 41546849 | ATTTTTTT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG02004.hp1 HG02055.hp1 HG02074.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008a0001c0001t0009others(2): Show | a0001c0001t0004g0027 a0001c0001t0004g0028 a0001c0001t0004g0029 others(19): Show |
29 | 111 | 0.2613 | -9 | c.*47 others(20): Show |
GINS4 | ENSG00000147536.12 | transcript | ENST00000276533.4 | protein_coding | 1820 | chr8 | TogoVar | |||||||
GIPC1_chr19_14472762_14501127 | 14483748 | CAATAATA others(2): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00735.hp1 HG01168.hp1 others(24): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0019others(11): Show | a0001c0001t0002g0093 a0001c0001t0008g0058 a0001c0001t0008g0059 others(20): Show |
27 | 71 | 0.3803 | -9 | c.-30 others(24): Show |
GIPC1 | ENSG00000123159.16 | transcript | ENST00000393033.9 | protein_coding | 3/8 | chr19 | TogoVar | |||||||
GIPC1_chr19_14472762_14501127 | 14496067 | CGCCGCCG others(2): Show |
C | 5_prime_UTR_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG02572.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0029 a0001c0002t0001g0113 a0001c0002t0001g0114 others(2): Show |
6 | 442 | 0.0136 | -9 | c.-21 others(18): Show |
GIPC1 | ENSG00000123159.16 | transcript | ENST00000393033.9 | protein_coding | 1/9 | 13092 | chr19 | TogoVar | ||||||
GIPC2_chr1_78040966_78143444 | 78100940 | ATACACAC others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00544.hp1 others(71): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0009 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(4): Show | a0001c0001t0001g0067 a0001c0001t0001g0072 a0001c0001t0001g0074 others(69): Show |
74 | 168 | 0.4405 | -9 | c.607 others(26): Show |
GIPC2 | ENSG00000137960.6 | transcript | ENST00000370759.4 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
GIPC2_chr1_78040966_78143444 | 78142354 | ATGTGTGT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG01192.hp2 HG01261.hp1 HG02056.hp1 others(13): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0006others(3): Show | a0001c0001t0002a0001c0004t0007a0001c0006t0009others(5): Show | a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0194 others(13): Show |
16 | 30 | 0.5333 | -9 | c.*66 others(20): Show |
GIPC2 | ENSG00000137960.6 | transcript | ENST00000370759.4 | protein_coding | 3911 | chr1 | TogoVar | |||||||
GIT2_chr12_109924804_110001368 | 109978076 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG01167.hp1 HG02055.hp2 HG02280.hp1 others(28): Show |
a0001a0005a0006others(1): Show | a0001c0001a0005c0010a0006c0014others(1): Show | a0001c0001t0003a0001c0001t0011a0001c0001t0013others(5): Show | a0001c0001t0003g0073 a0001c0001t0003g0184 a0001c0001t0003g0185 others(28): Show |
31 | 153 | 0.2026 | -9 | c.718 others(26): Show |
GIT2 | ENSG00000139436.22 | transcript | ENST00000355312.8 | protein_coding | 7/19 | chr12 | TogoVar | |||||||
GJA10_chr6_89889469_89901120 | 89898201 | TTTCCTTT others(2): Show |
T | downstream_gene_variant | MODIFIER | HG00597.hp2 HG00609.hp2 HG01099.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 14 | 384 | 0.0365 | -9 | c.*21 others(20): Show |
GJA10 | ENSG00000135355.4 | transcript | ENST00000369352.1 | protein_coding | 2082 | chr6 | TogoVar | |||||||
GJA1_chr6_121430646_121454727 | 121452735 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG01891.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0012a0001c0001t0013 | a0001c0001t0004g0013 a0001c0001t0004g0031 a0001c0001t0004g0039 others(9): Show |
17 | 146 | 0.1164 | -9 | c.*47 others(20): Show |
GJA1 | ENSG00000152661.9 | transcript | ENST00000282561.4 | protein_coding | 3009 | chr6 | TogoVar | |||||||
GJA5_chr1_147751199_147765602 | 147764823 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02559.hp2 HG02717.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0008 | a0001c0001t0002g0002 a0001c0001t0004g0013 a0001c0001t0008g0009 |
10 | 43 | 0.2326 | -9 | c.-43 others(20): Show |
GJA5 | ENSG00000265107.3 | transcript | ENST00000579774.3 | protein_coding | 4222 | chr1 | TogoVar | |||||||
GJA9_chr1_38869069_38886587 | 38880413 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00621.hp1 others(26): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(7): Show | a0001c0001t0002g0029 a0001c0001t0002g0047 a0001c0001t0004g0084 others(8): Show |
29 | 234 | 0.1239 | -9 | c.-96 others(26): Show |
GJA9 | ENSG00000131233.10 | transcript | ENST00000357771.5 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
GJB1_chrX_71218224_71230516 | 71219150 | CTTATTAT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00733.hp2 HG02896.hp2 HG02897.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0002g0002 |
4 | 167 | 0.0240 | -9 | c.-42 others(20): Show |
GJB1 | ENSG00000169562.13 | transcript | ENST00000361726.7 | protein_coding | 4073 | chrX | TogoVar | |||||||
GJB6_chr13_20216962_20237319 | 20229315 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00642.hp1 HG01106.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011 | a0001c0001t0001g0174 a0001c0001t0001g0211 a0001c0001t0001g0229 others(6): Show |
9 | 141 | 0.0638 | -9 | c.-16 others(24): Show |
GJB6 | ENSG00000121742.19 | transcript | ENST00000647029.1 | protein_coding | 4/4 | chr13 | TogoVar | |||||||
GJC1_chr17_44793448_44835287 | 44821697 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01099.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0030others(1): Show | a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 others(4): Show |
7 | 76 | 0.0921 | -9 | c.-97 others(26): Show |
GJC1 | ENSG00000182963.11 | transcript | ENST00000592524.6 | protein_coding | 1/2 | chr17 | TogoVar | |||||||
GJD2_chr15_34746032_34759998 | 34746234 | AAAAAAAT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00673.hp1 HG02273.hp1 HG03471.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0028others(1): Show | a0001c0001t0003g0029 a0001c0001t0004g0005 a0001c0001t0028g0043 others(1): Show |
6 | 425 | 0.0141 | -9 | c.*62 others(20): Show |
GJD2 | ENSG00000159248.5 | transcript | ENST00000290374.5 | protein_coding | 4797 | chr15 | TogoVar | |||||||
GJD2_chr15_34746032_34759998 | 34746238 | AAATATAT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00642.hp2 HG00735.hp2 HG01928.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0001 | a0001c0001t0002g0002 a0001c0001t0003g0003 a0001c0001t0003g0020 others(2): Show |
22 | 414 | 0.0531 | -9 | c.*62 others(20): Show |
GJD2 | ENSG00000159248.5 | transcript | ENST00000290374.5 | protein_coding | 4793 | chr15 | TogoVar | |||||||
GJD2_chr15_34746032_34759998 | 34746240 | ATATATAT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00438.hp2 HG01123.hp1 HG01258.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(3): Show | a0001c0001t0001g0004 a0001c0001t0003g0003 a0001c0002t0001g0001 others(3): Show |
9 | 392 | 0.0230 | -9 | c.*62 others(20): Show |
GJD2 | ENSG00000159248.5 | transcript | ENST00000290374.5 | protein_coding | 4791 | chr15 | TogoVar | |||||||
GLB1L3_chr11_134271379_134324564 | 134308547 | CCATCACC others(2): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02717.hp2 NA18970.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0368 a0001c0001t0002g0370 a0001c0002t0002g0340 |
3 | 419 | 0.0072 | -9 | c.962 others(26): Show |
GLB1L3 | ENSG00000166105.16 | transcript | ENST00000431683.7 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GLB1L3_chr11_134271379_134324564 | 134308550 | TCACCATC others(2): Show |
T | intron_variant | MODIFIER | HG01106.hp2 HG01255.hp2 HG01258.hp2 others(5): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0007 a0002c0004t0001g0041 a0002c0004t0001g0088 others(3): Show |
8 | 416 | 0.0192 | -9 | c.962 others(26): Show |
GLB1L3 | ENSG00000166105.16 | transcript | ENST00000431683.7 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GLB1_chr3_32991617_33102146 | 33018285 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02451.hp1 HG02486.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(1): Show | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0021 others(10): Show |
13 | 30 | 0.4333 | -9 | c.134 others(26): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 13/15 | chr3 | TogoVar | |||||||
GLB1_chr3_32991617_33102146 | 33031633 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG00597.hp2 HG02027.hp2 NA18944.hp1 others(9): Show |
a0002a0005 | a0002c0002a0002c0003a0005c0009 | a0002c0002t0001a0002c0003t0001a0005c0009t0001 | a0002c0002t0001g0324 a0002c0003t0001g0259 a0002c0003t0001g0292 others(9): Show |
12 | 376 | 0.0319 | -9 | c.106 others(28): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 10/15 | chr3 | TogoVar | |||||||
GLB1_chr3_32991617_33102146 | 33031635 | AAAAAAAT others(2): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 NA18948.hp1 others(3): Show |
a0001a0002 | a0001c0006a0002c0003 | a0001c0006t0001a0002c0003t0001 | a0001c0006t0001g0216 a0002c0003t0001g0258 a0002c0003t0001g0266 others(3): Show |
6 | 383 | 0.0157 | -9 | c.106 others(28): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 10/15 | chr3 | TogoVar | |||||||
GLB1_chr3_32991617_33102146 | 33031637 | AAAAATAT others(2): Show |
A | intron_variant | MODIFIER | HG02074.hp2 NA18943.hp2 NA18945.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002others(1): Show | a0001c0001t0001a0001c0006t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0080 a0001c0001t0001g0089 a0001c0001t0001g0133 others(4): Show |
7 | 381 | 0.0184 | -9 | c.106 others(28): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 10/15 | chr3 | TogoVar | |||||||
GLB1_chr3_32991617_33102146 | 33031639 | AAATATAT others(2): Show |
A | intron_variant | MODIFIER | HG01358.hp2 HG01496.hp2 HG02004.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0001a0001c0006t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0058 a0001c0001t0001g0073 a0001c0001t0001g0075 others(13): Show |
16 | 371 | 0.0431 | -9 | c.106 others(28): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 10/15 | chr3 | TogoVar | |||||||
GLB1_chr3_32991617_33102146 | 33056227 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00642.hp1 others(25): Show |
a0001 | a0001c0001a0001c0010a0001c0011 | a0001c0001t0001a0001c0010t0001a0001c0011t0001 | a0001c0001t0001g0045 a0001c0001t0001g0108 a0001c0001t0001g0129 others(25): Show |
28 | 82 | 0.3415 | -9 | c.733 others(26): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 6/15 | chr3 | TogoVar | |||||||
GLCCI1_chr7_7963796_8094080 | 7976496 | AAAGGAAA others(2): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02630.hp1 HG02965.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0003 | a0001c0001t0087a0001c0001t0089a0001c0007t0088others(2): Show | a0001c0001t0087g0377 a0001c0001t0089g0379 a0001c0007t0088g0378 others(4): Show |
7 | 412 | 0.0170 | -9 | c.457 others(26): Show |
GLCCI1 | ENSG00000106415.13 | transcript | ENST00000223145.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GLCCI1_chr7_7963796_8094080 | 8006776 | GCAGGCCC others(2): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01074.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0232 a0001c0001t0001g0265 a0001c0001t0001g0269 others(2): Show |
5 | 414 | 0.0121 | -9 | c.609 others(26): Show |
GLCCI1 | ENSG00000106415.13 | transcript | ENST00000223145.10 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GLCCI1_chr7_7963796_8094080 | 8033527 | TTATAACT others(2): Show |
T | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG02698.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0037 | a0001c0001t0001g0250 a0001c0001t0001g0267 a0001c0001t0008g0260 others(2): Show |
5 | 414 | 0.0121 | -9 | c.696 others(28): Show |
GLCCI1 | ENSG00000106415.13 | transcript | ENST00000223145.10 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GLDC_chr9_6527467_6650729 | 6619146 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00621.hp1 others(101): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0129 a0001c0001t0001g0159 a0001c0001t0001g0168 others(101): Show |
104 | 186 | 0.5591 | -9 | c.470 others(26): Show |
GLDC | ENSG00000178445.10 | transcript | ENST00000321612.8 | protein_coding | 3/24 | chr9 | TogoVar | |||||||
GLDC_chr9_6527467_6650729 | 6633821 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(82): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(17): Show | a0001c0001t0001g0097 a0001c0001t0001g0104 a0001c0001t0001g0105 others(81): Show |
85 | 141 | 0.6028 | -9 | c.334 others(28): Show |
GLDC | ENSG00000178445.10 | transcript | ENST00000321612.8 | protein_coding | 2/24 | chr9 | TogoVar | |||||||
GLDN_chr15_51336655_51413000 | 51362484 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG01109.hp1 HG01109.hp2 others(75): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(19): Show | a0001c0001t0001g0047 a0001c0001t0001g0106 a0001c0001t0001g0127 others(73): Show |
78 | 229 | 0.3406 | -9 | c.364 others(28): Show |
GLDN | ENSG00000186417.15 | transcript | ENST00000335449.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GLE1_chr9_128499719_128547288 | 128544392 | ATAAATAA others(2): Show |
A | downstream_gene_variant | MODIFIER | HG02572.hp1 HG03516.hp2 HG03927.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 a0001c0001t0001g0107 a0001c0001t0001g0305 |
3 | 358 | 0.0084 | -9 | c.*32 others(20): Show |
GLE1 | ENSG00000119392.16 | transcript | ENST00000309971.9 | protein_coding | 2105 | chr9 | TogoVar | |||||||
GLI2_chr2_120730868_120997653 | 120859452 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00597.hp1 others(48): Show |
a0001a0002a0004others(4): Show | a0001c0002a0001c0003a0001c0007others(7): Show | a0001c0002t0001a0001c0002t0006a0001c0002t0007others(25): Show | a0001c0002t0001g0040 a0001c0002t0001g0042 a0001c0002t0001g0057 others(48): Show |
51 | 109 | 0.4679 | -9 | c.148 others(28): Show |
GLI2 | ENSG00000074047.22 | transcript | ENST00000361492.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GLI3_chr7_41955949_42242209 | 42238016 | CCTCCTCC others(2): Show |
C | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02145.hp2 NA18906.hp1 |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0006a0002c0002t0002a0004c0004t0001 | a0001c0001t0006g0096 a0002c0002t0002g0097 a0004c0004t0001g0098 |
3 | 156 | 0.0192 | -9 | c.-10 others(20): Show |
GLI3 | ENSG00000106571.15 | transcript | ENST00000395925.8 | protein_coding | 808 | chr7 | TogoVar | |||||||
GLI4_chr8_143262445_143281931 | 143280751 | GCCCCCAG others(2): Show |
G | downstream_gene_variant | MODIFIER | NA18962.hp2 NA19000.hp2 NA19065.hp1 others(1): Show |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0001 | 4 | 391 | 0.0102 | -9 | c.*39 others(20): Show |
GLI4 | ENSG00000250571.7 | transcript | ENST00000340042.2 | protein_coding | 3821 | chr8 | TogoVar | |||||||
GLIPR1_chr12_75475755_75508863 | 75481357 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00597.hp2 HG00621.hp1 others(88): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0003a0001c0001t0007a0001c0001t0008others(9): Show | a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0011 others(68): Show |
91 | 218 | 0.4174 | -9 | c.174 others(24): Show |
GLIPR1 | ENSG00000139278.10 | transcript | ENST00000266659.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
GLIS1_chr1_53501239_53744164 | 53688051 | ACCGGGGC others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00738.hp1 HG01081.hp1 others(43): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0002c0006others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(20): Show | a0001c0001t0001g0081 a0001c0001t0001g0110 a0001c0001t0001g0114 others(43): Show |
46 | 234 | 0.1966 | -9 | c.259 others(28): Show |
GLIS1 | ENSG00000174332.6 | transcript | ENST00000628545.2 | protein_coding | 2/10 | chr1 | TogoVar | |||||||
GLIS1_chr1_53501239_53744164 | 53739183 | AGCCGCCG others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(142): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0005a0002c0002others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(42): Show | a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0110 others(142): Show |
145 | 234 | 0.6197 | -9 | c.-13 others(18): Show |
GLIS1 | ENSG00000174332.6 | transcript | ENST00000628545.2 | protein_coding | 20 | chr1 | TogoVar | |||||||
GLIS3_chr9_3819127_4305068 | 3873667 | AAAAATAA others(2): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG01981.hp2 HG02615.hp2 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0004a0001c0001t0018a0001c0001t0025others(2): Show | a0001c0001t0004g0081 a0001c0001t0018g0085 a0001c0001t0025g0023 others(2): Show |
5 | 188 | 0.0266 | -9 | c.229 others(28): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 8/10 | chr9 | TogoVar | |||||||
GLIS3_chr9_3819127_4305068 | 3967010 | GCAAAAAA others(2): Show |
G | intron_variant | MODIFIER | HG03139.hp1 HG03225.hp1 |
a0002a0009 | a0002c0002a0009c0009 | a0002c0002t0007a0009c0009t0004 | a0002c0002t0007g0074 a0009c0009t0004g0028 |
2 | 178 | 0.0112 | -9 | c.171 others(30): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 4/10 | chr9 | TogoVar | |||||||
GLIS3_chr9_3819127_4305068 | 3976795 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02895.hp2 HG02896.hp1 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0002a0001c0001t0006a0001c0001t0014others(2): Show | a0001c0001t0002g0138 a0001c0001t0006g0083 a0001c0001t0006g0084 others(3): Show |
6 | 15 | 0.4000 | -9 | c.171 others(30): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 4/10 | chr9 | TogoVar | |||||||
GLIS3_chr9_3819127_4305068 | 4084286 | CACACACA others(2): Show |
C | intron_variant | MODIFIER | HG02486.hp2 HG02723.hp2 HG02886.hp1 others(1): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0014a0001c0001t0046a0001c0001t0054others(1): Show | a0001c0001t0014g0051 a0001c0001t0046g0079 a0001c0001t0054g0089 others(1): Show |
4 | 188 | 0.0213 | -9 | c.171 others(30): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 4/10 | chr9 | TogoVar | |||||||
GLO1_chr6_38670925_38708145 | 38693695 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG02809.hp2 HG02818.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 a0001c0001t0001g0123 a0001c0001t0001g0125 |
4 | 407 | 0.0098 | -9 | c.85- others(24): Show |
GLO1 | ENSG00000124767.7 | transcript | ENST00000373365.5 | protein_coding | 1/5 | chr6 | TogoVar |