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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A3GALT2_chr1_33301766_33326098 | 33307702 | T | TCCCCCCC others(27): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02965.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0099 |
3 | 416 | 0.0072 | 34 | c.336 others(49): Show |
A3GALT2 | ENSG00000184389.9 | transcript | ENST00000442999.3 | protein_coding | 4/4 | chr1 | TogoVar | |||||||
A3GALT2_chr1_33301766_33326098 | 33307710 | T | TCCCCACC others(27): Show |
intron_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 241 | 0.0041 | 34 | c.336 others(49): Show |
A3GALT2 | ENSG00000184389.9 | transcript | ENST00000442999.3 | protein_coding | 4/4 | chr1 | TogoVar | |||||||
A3GALT2_chr1_33301766_33326098 | 33307734 | T | TCCCCCCC others(27): Show |
intron_variant | MODIFIER | HG04204.hp2 NA18994.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 a0001c0001t0001g0095 |
2 | 413 | 0.0048 | 34 | c.336 others(49): Show |
A3GALT2 | ENSG00000184389.9 | transcript | ENST00000442999.3 | protein_coding | 4/4 | chr1 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42703106 | C | CTGTGTGT others(27): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0385 a0002c0003t0001g0387 |
2 | 13 | 0.1538 | 34 | c.-18 others(53): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | |||||||
AADACL4_chr1_12639085_12672076 | 12658166 | T | TTCTTTCT others(27): Show |
intron_variant | MODIFIER | HG02145.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 a0001c0001t0001g0230 |
2 | 268 | 0.0075 | 34 | c.386 others(51): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AAGAB_chr15_67195667_67259661 | 67222282 | A | ACACACAC others(27): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0134 | 1 | 271 | 0.0037 | 34 | c.535 others(51): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | chr15 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69493158 | C | CAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0022 | 1 | 70 | 0.0143 | 34 | c.236 others(53): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | chr2 | TogoVar | |||||||
ABAT_chr16_8669617_8789570 | 8710727 | A | AGAGAGAG others(27): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02071.hp2 NA18999.hp2 |
a0001a0002 | a0001c0003a0002c0004a0002c0005 | a0001c0003t0003a0002c0004t0004a0002c0005t0004 | a0001c0003t0003g0159 a0002c0004t0004g0124 a0002c0005t0004g0179 |
3 | 104 | 0.0288 | 34 | c.-41 others(53): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8743423 | T | TTATATAA others(27): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02818.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008 | a0001c0001t0001g0316 a0001c0001t0002g0347 a0001c0001t0008g0034 |
3 | 276 | 0.0109 | 34 | c.71- others(49): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8743444 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0001 | 1 | 99 | 0.0101 | 34 | c.71- others(49): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69146269 | A | AATATATA others(27): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 | a0009 | a0009c0010 | a0009c0010t0006 | a0009c0010t0006g0143 | 1 | 346 | 0.0029 | 34 | c.*25 others(45): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 1737 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69162838 | C | CATATACA others(27): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00738.hp1 others(15): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001a0003c0003t0005 | a0002c0002t0001g0068 a0002c0002t0001g0275 a0002c0002t0001g0277 others(15): Show |
18 | 174 | 0.1034 | 34 | c.336 others(53): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 27/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69162840 | T | TATACATA others(27): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 HG03239.hp1 others(2): Show |
a0002 | a0002c0002a0002c0015 | a0002c0002t0001a0002c0015t0001 | a0002c0002t0001g0119 a0002c0002t0001g0141 a0002c0002t0001g0184 others(1): Show |
5 | 277 | 0.0181 | 34 | c.336 others(53): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 27/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69210847 | C | CATATATA others(27): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01934.hp1 HG01975.hp2 others(2): Show |
a0004 | a0004c0004a0004c0006 | a0004c0004t0003a0004c0006t0003 | a0004c0004t0003g0236 a0004c0004t0003g0237 a0004c0004t0003g0270 others(2): Show |
5 | 248 | 0.0202 | 34 | c.100 others(53): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214989187 | C | CATACATA others(27): Show |
intron_variant | MODIFIER | HG01106.hp1 HG03017.hp2 NA19002.hp2 |
a0001 | a0001c0001a0001c0004a0001c0006 | a0001c0001t0002a0001c0004t0001a0001c0006t0002 | a0001c0001t0002g0066 a0001c0004t0001g0026 a0001c0006t0002g0142 |
3 | 27 | 0.1111 | 34 | c.382 others(51): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 26/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214989187 | C | CATATATA others(27): Show |
intron_variant | MODIFIER | HG01928.hp2 HG03669.hp1 NA19066.hp2 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0002t0001a0001c0003t0001 | a0001c0001t0002g0120 a0001c0002t0001g0058 a0001c0003t0001g0172 |
3 | 27 | 0.1111 | 34 | c.382 others(51): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 26/52 | chr2 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48411310 | T | TTTTCTTT others(27): Show |
intron_variant | MODIFIER | HG01952.hp1 HG01981.hp2 HG02886.hp2 others(1): Show |
a0003a0037a0058others(1): Show | a0003c0003a0037c0042a0058c0049others(1): Show | a0003c0003t0004a0037c0042t0004a0058c0049t0001others(1): Show | a0003c0003t0004g0029 a0037c0042t0004g0074 a0058c0049t0001g0086 others(1): Show |
4 | 140 | 0.0286 | 34 | c.122 others(53): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 40/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104862689 | C | CCCCACCC others(27): Show |
intron_variant | MODIFIER | HG02486.hp1 HG03942.hp1 NA19043.hp1 |
a0003a0004a0027 | a0003c0077a0004c0008a0027c0072 | a0003c0077t0005a0004c0008t0001a0027c0072t0001 | a0003c0077t0005g0311 a0004c0008t0001g0033 a0027c0072t0001g0310 |
3 | 207 | 0.0145 | 34 | c.422 others(49): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69263697 | C | CTTTTTTT others(27): Show |
intron_variant | MODIFIER | HG02809.hp2 NA18522.hp2 |
a0004 | a0004c0005 | a0004c0005t0003 | a0004c0005t0003g0193 a0004c0005t0003g0203 |
2 | 18 | 0.1111 | 34 | c.331 others(53): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 24/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69298314 | G | GGAAGGAA others(27): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0299 | 1 | 237 | 0.0042 | 34 | c.126 others(51): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69303785 | A | AAAAAATA others(27): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0006 | a0006c0009 | a0006c0009t0003 | a0006c0009t0003g0220 | 1 | 237 | 0.0042 | 34 | c.931 others(49): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69303807 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01074.hp2 HG01361.hp2 others(11): Show |
a0001 | a0001c0002a0001c0006 | a0001c0002t0001a0001c0006t0007 | a0001c0002t0001g0003 a0001c0002t0001g0070 a0001c0002t0001g0072 others(10): Show |
14 | 245 | 0.0571 | 34 | c.930 others(49): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69303845 | C | CATATATA others(27): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01106.hp1 others(1): Show |
a0005 | a0005c0007 | a0005c0007t0006 | a0005c0007t0006g0338 a0005c0007t0006g0342 a0005c0007t0006g0343 others(1): Show |
4 | 206 | 0.0194 | 34 | c.930 others(49): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69303854 | A | ACATATAT others(27): Show |
intron_variant | MODIFIER | HG02615.hp1 HG03041.hp2 |
a0001 | a0001c0010 | a0001c0010t0010 | a0001c0010t0010g0331 a0001c0010t0010g0334 |
2 | 345 | 0.0058 | 34 | c.930 others(49): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69303854 | A | ATATACAT others(27): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0005 | a0005c0007 | a0005c0007t0006 | a0005c0007t0006g0340 | 1 | 344 | 0.0029 | 34 | c.930 others(49): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69146269 | A | AATATATA others(27): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 | a0003 | a0003c0009 | a0003c0009t0001 | a0003c0009t0001g0258 | 1 | 324 | 0.0031 | 34 | c.-45 others(45): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 4375 | chr17 | TogoVar | |||||||
ABCB10_chr1_229511582_229563707 | 229529295 | C | CAAAAAAA others(27): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0002 | a0002c0003 | a0002c0003t0007 | a0002c0003t0007g0024 | 1 | 43 | 0.0233 | 34 | c.164 others(51): Show |
ABCB10 | ENSG00000135776.5 | transcript | ENST00000344517.5 | protein_coding | 8/12 | chr1 | TogoVar | |||||||
ABCB5_chr7_20610667_20762008 | 20711778 | C | CTCTCTCT others(27): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0181 | 1 | 284 | 0.0035 | 34 | c.242 others(53): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB7_chrX_75046048_75161283 | 75104047 | G | GTTTTTTT others(27): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0102 | 1 | 22 | 0.0455 | 34 | c.334 others(51): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 3/15 | chrX | TogoVar | |||||||
ABCC1_chr16_15944616_16148053 | 16143530 | C | CTTTTTTT others(27): Show |
downstream_gene_variant | MODIFIER | HG01981.hp1 HG02602.hp2 NA20300.hp2 |
a0001a0002 | a0001c0002a0002c0010 | a0001c0002t0002a0001c0002t0007a0002c0010t0002 | a0001c0002t0002g0112 a0001c0002t0007g0034 a0002c0010t0002g0129 |
3 | 50 | 0.0600 | 34 | c.*22 others(45): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 478 | chr16 | TogoVar | |||||||
ABCC2_chr10_99777640_99857594 | 99778449 | C | CAGAGAGA others(27): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 HG03209.hp2 HG03490.hp2 |
a0001 | a0001c0001a0001c0038 | a0001c0001t0001a0001c0038t0001 | a0001c0001t0001g0153 a0001c0001t0001g0197 a0001c0038t0001g0141 |
3 | 124 | 0.0242 | 34 | c.-43 others(45): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 4190 | chr10 | TogoVar | |||||||
ABCC2_chr10_99777640_99857594 | 99778449 | C | CAGAGAGA others(27): Show |
upstream_gene_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 122 | 0.0082 | 34 | c.-43 others(45): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 4190 | chr10 | TogoVar | |||||||
ABCC3_chr17_50629881_50697253 | 50673958 | T | TTCTTTCT others(27): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0017 | a0017c0029 | a0017c0029t0001 | a0017c0029t0001g0230 | 1 | 337 | 0.0030 | 34 | c.259 others(51): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 19/30 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ABCC3_chr17_50629881_50697253 | 50673962 | T | TTCTTTCT others(27): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251 | 1 | 327 | 0.0031 | 34 | c.259 others(51): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 19/30 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ABCC3_chr17_50629881_50697253 | 50674034 | C | CTCTCTCT others(27): Show |
intron_variant | MODIFIER | HG01169.hp2 HG03927.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 a0001c0001t0001g0332 |
2 | 103 | 0.0194 | 34 | c.259 others(51): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 19/30 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ABCC3_chr17_50629881_50697253 | 50674034 | C | CTCTCTTT others(27): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01168.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 a0001c0001t0001g0175 |
2 | 103 | 0.0194 | 34 | c.259 others(51): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 19/30 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ABCC3_chr17_50629881_50697253 | 50674034 | C | CTTTCTTT others(27): Show |
intron_variant | MODIFIER | NA18964.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 a0001c0001t0001g0254 |
2 | 103 | 0.0194 | 34 | c.259 others(51): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 19/30 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ABCG2_chr4_88085269_88163639 | 88115232 | G | GTCTCTCT others(27): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00597.hp2 HG00735.hp1 others(13): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0002a0003c0003t0001 | a0001c0001t0001g0197 a0001c0001t0001g0256 a0001c0001t0001g0269 others(13): Show |
16 | 228 | 0.0702 | 34 | c.842 others(49): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 7/15 | chr4 | TogoVar | |||||||
ABCG2_chr4_88085269_88163639 | 88115256 | C | CTCTCTCT others(27): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0276 | 1 | 168 | 0.0060 | 34 | c.842 others(49): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 7/15 | chr4 | TogoVar | |||||||
ABCG2_chr4_88085269_88163639 | 88115256 | C | CTCTCTCT others(27): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01169.hp1 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0004others(2): Show | a0001c0001t0001a0002c0002t0002a0002c0004t0001others(2): Show | a0001c0001t0001g0192 a0002c0002t0002g0199 a0002c0004t0001g0207 others(2): Show |
6 | 173 | 0.0347 | 34 | c.842 others(49): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 7/15 | chr4 | TogoVar | |||||||
ABCG2_chr4_88085269_88163639 | 88115256 | C | CTCTCTCT others(27): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01074.hp1 HG01081.hp2 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0152 a0002c0002t0001g0242 a0003c0003t0001g0212 others(1): Show |
4 | 171 | 0.0234 | 34 | c.842 others(49): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 7/15 | chr4 | TogoVar | |||||||
ABCG2_chr4_88085269_88163639 | 88115256 | C | CTCTCTCT others(27): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02083.hp1 HG02293.hp1 others(5): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(3): Show | a0001c0001t0001g0083 a0001c0001t0004g0336 a0001c0001t0004g0337 others(5): Show |
8 | 175 | 0.0457 | 34 | c.842 others(49): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 7/15 | chr4 | TogoVar | |||||||
ABHD12B_chr14_50867053_50909970 | 50870945 | A | AAGAAAGA others(27): Show |
upstream_gene_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251 | 1 | 362 | 0.0028 | 34 | c.-12 others(45): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1107 | chr14 | TogoVar | |||||||
ABHD12B_chr14_50867053_50909970 | 50870949 | A | AAGAAAGA others(27): Show |
upstream_gene_variant | MODIFIER | HG00609.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0269 | 1 | 366 | 0.0027 | 34 | c.-12 others(45): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1103 | chr14 | TogoVar | |||||||
ABHD12B_chr14_50867053_50909970 | 50870987 | A | AAGAAAGA others(27): Show |
upstream_gene_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 312 | 0.0032 | 34 | c.-11 others(45): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1065 | chr14 | TogoVar | |||||||
ABHD12B_chr14_50867053_50909970 | 50870991 | A | AAGAAAGA others(27): Show |
upstream_gene_variant | MODIFIER | HG00609.hp2 HG01256.hp1 HG01258.hp1 others(1): Show |
a0001a0003 | a0001c0001a0001c0005a0003c0003 | a0001c0001t0001a0001c0005t0004a0003c0003t0001 | a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0005t0004g0159 others(1): Show |
4 | 319 | 0.0125 | 34 | c.-11 others(45): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1061 | chr14 | TogoVar | |||||||
ABHD12B_chr14_50867053_50909970 | 50870995 | A | AAGAAAGA others(27): Show |
upstream_gene_variant | MODIFIER | HG02717.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0153 | 1 | 357 | 0.0028 | 34 | c.-11 others(45): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1057 | chr14 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25322362 | G | GATATATA others(27): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0168 | 1 | 296 | 0.0034 | 34 | c.422 others(49): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 3/12 | chr20 | TogoVar | |||||||
ABHD17C_chr15_80690310_80760621 | 80705333 | T | TTGTGTGT others(27): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02145.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0011 | a0001c0001t0008g0275 a0001c0001t0011g0119 |
2 | 29 | 0.0690 | 34 | c.590 others(51): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD6_chr3_58232792_58299734 | 58286848 | G | GCATATAT others(27): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 | 1 | 84 | 0.0119 | 34 | c.837 others(51): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | chr3 | TogoVar |