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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GCH1_chr14_54837017_54907826 | 54880692 | CATATATA others(23): Show |
C | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0090 | 1 | 233 | 0.0043 | -30 | c.344 others(49): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | TogoVar | |||||||
GCNA_chrX_71573437_71618583 | 71603724 | CGACGACA others(23): Show |
C | disruptive_inframe_deletion | MODERATE | HG00735.hp2 HG02895.hp1 HG02897.hp1 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0114 a0003c0003t0001g0115 a0003c0003t0001g0170 others(1): Show |
4 | 263 | 0.0152 | -30 | c.477 others(37): Show |
p.Asp others(13): Show |
GCNA | ENSG00000147174.12 | transcript | ENST00000373696.8 | protein_coding | 8/13 | 565/2765 | 477/2076 | 159/691 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
GCNT4_chr5_75020346_75057558 | 75027302 | ATAATTAT others(23): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00597.hp1 others(76): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0008a0002c0002t0014others(12): Show | a0002c0002t0002g0002 a0002c0002t0002g0029 a0002c0002t0002g0031 others(51): Show |
79 | 380 | 0.2079 | -30 | c.*13 others(41): Show |
GCNT4 | ENSG00000176928.7 | transcript | ENST00000652361.2 | protein_coding | 4/4 | 1344 | chr5 | TogoVar | ||||||
GCNT4_chr5_75020346_75057558 | 75032872 | GGTGTGTG others(23): Show |
G | intron_variant | MODIFIER | HG00733.hp1 HG01069.hp2 HG01071.hp1 others(11): Show |
a0002 | a0002c0002 | a0002c0002t0013a0002c0002t0034a0002c0002t0035others(1): Show | a0002c0002t0013g0008 a0002c0002t0013g0022 a0002c0002t0013g0069 others(7): Show |
14 | 117 | 0.1197 | -30 | c.-1- others(45): Show |
GCNT4 | ENSG00000176928.7 | transcript | ENST00000652361.2 | protein_coding | 3/3 | chr5 | TogoVar | |||||||
GEN1_chr2_17749138_17793946 | 17778248 | GTATACAC others(23): Show |
G | intron_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0130 | 1 | 316 | 0.0032 | -30 | c.126 others(47): Show |
GEN1 | ENSG00000178295.15 | transcript | ENST00000381254.7 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GEN1_chr2_17749138_17793946 | 17778336 | GTATACAC others(23): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG01109.hp1 HG01433.hp2 others(4): Show |
a0002a0012 | a0002c0002a0012c0021 | a0002c0002t0002a0012c0021t0002 | a0002c0002t0002g0009 a0002c0002t0002g0016 a0012c0021t0002g0071 |
7 | 297 | 0.0236 | -30 | c.126 others(47): Show |
GEN1 | ENSG00000178295.15 | transcript | ENST00000381254.7 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GET4_chr7_871554_901436 | 876278 | CCTGGGCC others(23): Show |
C | upstream_gene_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 382 | 0.0026 | -30 | c.-36 others(39): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 275 | chr7 | TogoVar | |||||||
GET4_chr7_871554_901436 | 876314 | CCACGTGT others(23): Show |
C | upstream_gene_variant | MODIFIER | HG02896.hp1 HG03579.hp2 NA18951.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0041a0001c0002t0002 | a0001c0001t0041g0001 a0001c0002t0002g0079 a0001c0002t0002g0093 |
3 | 369 | 0.0081 | -30 | c.-33 others(39): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 239 | chr7 | TogoVar | |||||||
GET4_chr7_871554_901436 | 876361 | ACCCGCCT others(23): Show |
A | upstream_gene_variant | MODIFIER | HG00735.hp2 NA19067.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0145 a0001c0001t0013g0176 |
2 | 377 | 0.0053 | -30 | c.-28 others(39): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 192 | chr7 | TogoVar | |||||||
GET4_chr7_871554_901436 | 876391 | GCCCGCCC others(23): Show |
G | upstream_gene_variant | MODIFIER | HG02258.hp2 HG02572.hp1 HG02922.hp2 others(1): Show |
a0001 | a0001c0001a0001c0021 | a0001c0001t0001a0001c0021t0002 | a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 others(1): Show |
4 | 381 | 0.0105 | -30 | c.-25 others(39): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 162 | chr7 | TogoVar | |||||||
GIGYF1_chr7_100674507_100699250 | 100694309 | TCCACCGC others(23): Show |
T | upstream_gene_variant | MODIFIER | HG02818.hp1 | a0006 | a0006c0012 | a0006c0012t0034 | a0006c0012t0034g0204 | 1 | 396 | 0.0025 | -30 | c.-13 others(41): Show |
GIGYF1 | ENSG00000146830.11 | transcript | ENST00000678049.1 | protein_coding | 60 | chr7 | TogoVar | |||||||
GIGYF1_chr7_100674507_100699250 | 100694312 | ACCGCCGC others(23): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00642.hp2 HG01081.hp2 others(36): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(18): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0017 others(27): Show |
39 | 43 | 0.9070 | -30 | c.-13 others(41): Show |
GIGYF1 | ENSG00000146830.11 | transcript | ENST00000678049.1 | protein_coding | 63 | chr7 | TogoVar | |||||||
GIGYF2_chr2_232692331_232865605 | 232757809 | AATGATTG others(23): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp1 HG01175.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0034 | a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0040 others(2): Show |
5 | 374 | 0.0134 | -30 | c.379 others(47): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 6/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GIGYF2_chr2_232692331_232865605 | 232836260 | CTACATAT others(23): Show |
C | intron_variant | MODIFIER | HG03195.hp2 | a0009 | a0009c0020 | a0009c0020t0019 | a0009c0020t0019g0180 | 1 | 370 | 0.0027 | -30 | c.276 others(49): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 22/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GIGYF2_chr2_232692331_232865605 | 232836301 | TATATATA others(23): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00741.hp1 HG03130.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0002 a0001c0001t0004g0087 a0001c0001t0004g0090 others(4): Show |
7 | 298 | 0.0235 | -30 | c.276 others(49): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 22/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GIGYF2_chr2_232692331_232865605 | 232836320 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | HG00408.hp2 NA19068.hp2 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0195 a0001c0005t0001g0226 |
2 | 371 | 0.0054 | -30 | c.276 others(49): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 22/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GINM1_chr6_149561375_149596748 | 149562262 | TTATATAT others(23): Show |
T | upstream_gene_variant | MODIFIER | HG02257.hp1 HG02965.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0205 a0001c0001t0005g0053 a0001c0001t0005g0054 |
3 | 216 | 0.0139 | -30 | c.-41 others(41): Show |
GINM1 | ENSG00000055211.14 | transcript | ENST00000367419.10 | protein_coding | 4112 | chr6 | TogoVar | |||||||
GINM1_chr6_149561375_149596748 | 149562288 | ATATATAT others(23): Show |
A | upstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0058 | 1 | 376 | 0.0027 | -30 | c.-41 others(41): Show |
GINM1 | ENSG00000055211.14 | transcript | ENST00000367419.10 | protein_coding | 4086 | chr6 | TogoVar | |||||||
GINM1_chr6_149561375_149596748 | 149562290 | ATATATAT others(23): Show |
A | upstream_gene_variant | MODIFIER | HG02970.hp2 NA21309.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0017 | a0001c0001t0004g0057 a0001c0002t0017g0074 |
2 | 377 | 0.0053 | -30 | c.-41 others(41): Show |
GINM1 | ENSG00000055211.14 | transcript | ENST00000367419.10 | protein_coding | 4084 | chr6 | TogoVar | |||||||
GINM1_chr6_149561375_149596748 | 149562292 | ATATATAT others(23): Show |
A | upstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0002 | a0001c0002t0022 | a0001c0002t0022g0071 | 1 | 377 | 0.0027 | -30 | c.-41 others(41): Show |
GINM1 | ENSG00000055211.14 | transcript | ENST00000367419.10 | protein_coding | 4082 | chr6 | TogoVar | |||||||
GINM1_chr6_149561375_149596748 | 149570134 | TTTTATAT others(23): Show |
T | intron_variant | MODIFIER | HG03041.hp1 HG03209.hp1 HG03453.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0035 a0001c0001t0001g0091 a0001c0001t0003g0090 |
4 | 337 | 0.0119 | -30 | c.121 others(47): Show |
GINM1 | ENSG00000055211.14 | transcript | ENST00000367419.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GIPC1_chr19_14472762_14501127 | 14483748 | CAATAATA others(23): Show |
C | intron_variant | MODIFIER | HG02132.hp2 NA19000.hp1 NA19072.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0017 | a0001c0001t0003g0264 a0001c0002t0017g0241 a0001c0002t0017g0267 others(1): Show |
4 | 48 | 0.0833 | -30 | c.-30 others(45): Show |
GIPC1 | ENSG00000123159.16 | transcript | ENST00000393033.9 | protein_coding | 3/8 | chr19 | TogoVar | |||||||
GJA10_chr6_89889469_89901120 | 89898136 | TTTCCTTT others(23): Show |
T | downstream_gene_variant | MODIFIER | HG01106.hp2 HG01515.hp2 HG01517.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 6 | 361 | 0.0166 | -30 | c.*20 others(41): Show |
GJA10 | ENSG00000135355.4 | transcript | ENST00000369352.1 | protein_coding | 2017 | chr6 | TogoVar | |||||||
GJA10_chr6_89889469_89901120 | 89898141 | TTTCCTTT others(23): Show |
T | downstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 346 | 0.0029 | -30 | c.*20 others(41): Show |
GJA10 | ENSG00000135355.4 | transcript | ENST00000369352.1 | protein_coding | 2022 | chr6 | TogoVar | |||||||
GJA10_chr6_89889469_89901120 | 89898151 | TTTCCTTT others(23): Show |
T | downstream_gene_variant | MODIFIER | HG02145.hp2 HG02559.hp1 HG04184.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0000 a0001c0001t0002g0000 |
7 | 263 | 0.0266 | -30 | c.*20 others(41): Show |
GJA10 | ENSG00000135355.4 | transcript | ENST00000369352.1 | protein_coding | 2032 | chr6 | TogoVar | |||||||
GK_chrX_30648423_30736462 | 30662839 | TTCTTTCT others(23): Show |
T | intron_variant | MODIFIER | HG00597.hp1 HG02451.hp1 HG02965.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0041 a0001c0001t0001g0189 a0001c0001t0004g0169 others(2): Show |
5 | 281 | 0.0178 | -30 | c.79- others(45): Show |
GK | ENSG00000198814.14 | transcript | ENST00000427190.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GLB1_chr3_32991617_33102146 | 33059244 | TACACACA others(23): Show |
T | intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0059 | 1 | 24 | 0.0417 | -30 | c.553 others(46): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 5/15 | chr3 | TogoVar | |||||||
GLI1_chr12_57454785_57477268 | 57462849 | CACTGCAG others(23): Show |
C | intron_variant | MODIFIER | HG01515.hp1 | a0008 | a0008c0022 | a0008c0022t0001 | a0008c0022t0001g0065 | 1 | 412 | 0.0024 | -30 | c.-27 others(45): Show |
GLI1 | ENSG00000111087.10 | transcript | ENST00000228682.7 | protein_coding | 1/11 | chr12 | TogoVar | |||||||
GLI2_chr2_120730868_120997653 | 120886186 | GTGTGTGT others(23): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00639.hp2 others(32): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0016a0001c0021others(7): Show | a0001c0002t0001a0001c0002t0006a0001c0002t0007others(17): Show | a0001c0002t0001g0027 a0001c0002t0001g0040 a0001c0002t0001g0042 others(32): Show |
35 | 160 | 0.2188 | -30 | c.149 others(49): Show |
GLI2 | ENSG00000074047.22 | transcript | ENST00000361492.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GLI2_chr2_120730868_120997653 | 120886232 | TTTTTGTT others(23): Show |
T | intron_variant | MODIFIER | HG02630.hp1 HG02896.hp2 HG02976.hp1 |
a0001a0003 | a0001c0002a0003c0005a0003c0006 | a0001c0002t0008a0003c0005t0007a0003c0006t0008 | a0001c0002t0008g0055 a0003c0005t0007g0056 a0003c0006t0008g0002 |
3 | 39 | 0.0769 | -30 | c.149 others(49): Show |
GLI2 | ENSG00000074047.22 | transcript | ENST00000361492.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GLI4_chr8_143262445_143281931 | 143273618 | CTCACAGC others(23): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(178): Show |
a0001a0002a0006 | a0001c0002a0001c0003a0002c0001others(5): Show | a0001c0002t0001a0001c0003t0001a0002c0001t0001others(8): Show | a0001c0002t0001g0018 a0001c0002t0001g0031 a0001c0003t0001g0105 others(54): Show |
181 | 392 | 0.4617 | -30 | c.125 others(47): Show |
GLI4 | ENSG00000250571.7 | transcript | ENST00000340042.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
GLIS1_chr1_53501239_53744164 | 53530716 | TTCACAGC others(23): Show |
T | intron_variant | MODIFIER | HG02145.hp1 | a0007 | a0007c0008 | a0007c0008t0003 | a0007c0008t0003g0014 | 1 | 234 | 0.0043 | -30 | c.132 others(47): Show |
GLIS1 | ENSG00000174332.6 | transcript | ENST00000628545.2 | protein_coding | 4/10 | chr1 | TogoVar | |||||||
GLIS1_chr1_53501239_53744164 | 53709377 | CATATATA others(23): Show |
C | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0096 | 1 | 231 | 0.0043 | -30 | c.259 others(49): Show |
GLIS1 | ENSG00000174332.6 | transcript | ENST00000628545.2 | protein_coding | 2/10 | chr1 | TogoVar | |||||||
GLIS3_chr9_3819127_4305068 | 3859350 | AACACACA others(23): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00738.hp2 others(18): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0010a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(11): Show | a0001c0001t0001g0101 a0001c0001t0001g0141 a0001c0001t0001g0150 others(18): Show |
21 | 40 | 0.5250 | -30 | c.229 others(49): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 8/10 | chr9 | TogoVar | |||||||
GLMP_chr1_156287688_156300679 | 156292376 | AGTGTGTG others(23): Show |
A | downstream_gene_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG00741.hp2 others(14): Show |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0002a0004c0004t0002 | a0002c0002t0002g0002 a0004c0004t0002g0004 |
17 | 46 | 0.3696 | -30 | c.*63 others(39): Show |
GLMP | ENSG00000198715.13 | transcript | ENST00000362007.6 | protein_coding | 311 | chr1 | TogoVar | |||||||
GLRA1_chr5_151817513_151929851 | 151849376 | GTTTCCTT others(23): Show |
G | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0184 | 1 | 219 | 0.0046 | -30 | c.912 others(47): Show |
GLRA1 | ENSG00000145888.11 | transcript | ENST00000274576.9 | protein_coding | 7/8 | chr5 | TogoVar | |||||||
GLRA2_chrX_14524536_14736812 | 14691271 | CTGTGTGT others(23): Show |
C | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0060 | 1 | 25 | 0.0400 | -30 | c.108 others(47): Show |
GLRA2 | ENSG00000101958.14 | transcript | ENST00000218075.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GLRA2_chrX_14524536_14736812 | 14730891 | TACACACA others(23): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG02257.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 a0001c0001t0001g0061 a0001c0001t0001g0223 others(2): Show |
5 | 14 | 0.3571 | -30 | c.*43 others(39): Show |
GLRA2 | ENSG00000101958.14 | transcript | ENST00000218075.9 | protein_coding | 9/9 | 436 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GLRA3_chr4_174631920_174834247 | 174801999 | GATAAATA others(23): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG03130.hp2 HG03453.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0011 | a0001c0001t0008a0001c0001t0023a0001c0003t0086others(1): Show | a0001c0001t0008g0013 a0001c0001t0023g0008 a0001c0003t0086g0012 others(1): Show |
4 | 292 | 0.0137 | -30 | c.72- others(47): Show |
GLRA3 | ENSG00000145451.13 | transcript | ENST00000274093.8 | protein_coding | 1/9 | chr4 | TogoVar | |||||||
GLT1D1_chr12_128848478_128989968 | 128874078 | TTCTTTCT others(23): Show |
T | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0029 | 1 | 318 | 0.0031 | -30 | c.69- others(45): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
GLT1D1_chr12_128848478_128989968 | 128874082 | TTCTTTCT others(23): Show |
T | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0065 | 1 | 311 | 0.0032 | -30 | c.69- others(45): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
GLT1D1_chr12_128848478_128989968 | 128874110 | CTCTCTCT others(23): Show |
C | intron_variant | MODIFIER | HG06807.hp1 | a0002 | a0002c0007 | a0002c0007t0005 | a0002c0007t0005g0213 | 1 | 307 | 0.0033 | -30 | c.69- others(45): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
GLT1D1_chr12_128848478_128989968 | 128874114 | CTCTCTCT others(23): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG02040.hp1 HG02738.hp1 others(5): Show |
a0001a0004 | a0001c0001a0001c0004a0004c0015 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0176 a0001c0001t0001g0255 a0001c0001t0001g0294 others(5): Show |
8 | 315 | 0.0254 | -30 | c.69- others(45): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
GLT1D1_chr12_128848478_128989968 | 128874118 | CTCTCTCT others(23): Show |
C | intron_variant | MODIFIER | HG02717.hp2 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0042 a0001c0001t0004g0177 |
2 | 294 | 0.0068 | -30 | c.69- others(45): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
GLT1D1_chr12_128848478_128989968 | 128879372 | TTTTCTTT others(23): Show |
T | intron_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0003 | a0002c0003t0008 | a0002c0003t0008g0320 | 1 | 247 | 0.0040 | -30 | c.217 others(47): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
GLT8D2_chr12_103983987_104055187 | 103990078 | AATATATA others(23): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG01081.hp2 HG01168.hp1 others(15): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 others(15): Show |
18 | 38 | 0.4737 | -30 | c.881 others(45): Show |
GLT8D2 | ENSG00000120820.13 | transcript | ENST00000360814.9 | protein_coding | 10/10 | chr12 | TogoVar | |||||||
GLT8D2_chr12_103983987_104055187 | 104021867 | AAAGAAGA others(23): Show |
A | intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 374 | 0.0027 | -30 | c.-16 others(47): Show |
GLT8D2 | ENSG00000120820.13 | transcript | ENST00000360814.9 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
GLT8D2_chr12_103983987_104055187 | 104021926 | AGAAGAAG others(23): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG01167.hp1 HG01169.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0159 a0001c0001t0001g0302 others(5): Show |
9 | 381 | 0.0236 | -30 | c.-16 others(47): Show |
GLT8D2 | ENSG00000120820.13 | transcript | ENST00000360814.9 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
GLT8D2_chr12_103983987_104055187 | 104021935 | AGAAGAAG others(23): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG01168.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0054 others(5): Show |
8 | 379 | 0.0211 | -30 | c.-16 others(47): Show |
GLT8D2 | ENSG00000120820.13 | transcript | ENST00000360814.9 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
GLT8D2_chr12_103983987_104055187 | 104021971 | GGAAGAGG others(23): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG01928.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 a0001c0001t0001g0060 |
2 | 380 | 0.0053 | -30 | c.-16 others(47): Show |
GLT8D2 | ENSG00000120820.13 | transcript | ENST00000360814.9 | protein_coding | 1/10 | chr12 | TogoVar |