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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A2ML1_chr12_8817621_8881787 | 8841009 | A | AGGAAGGA others(33): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0061 | 1 | 108 | 0.0093 | 40 | c.108 others(57): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 10/35 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42703106 | C | CTGTGTGT others(33): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0238 | 1 | 12 | 0.0833 | 40 | c.-18 others(59): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | |||||||
AAGAB_chr15_67195667_67259661 | 67222282 | A | ACACACAC others(33): Show |
intron_variant | MODIFIER | NA19078.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0135 | 1 | 271 | 0.0037 | 40 | c.535 others(57): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | chr15 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81156197 | C | CATGTTAC others(33): Show |
intron_variant | MODIFIER | HG02015.hp2 NA18982.hp2 NA18985.hp2 others(1): Show |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0001a0007c0008t0001 | a0001c0001t0001g0209 a0001c0001t0001g0210 a0007c0008t0001g0211 others(1): Show |
4 | 366 | 0.0109 | 40 | c.55+ others(55): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
ABAT_chr16_8669617_8789570 | 8737981 | G | GAAGAAAG others(33): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0294 | 1 | 344 | 0.0029 | 40 | c.70+ others(55): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8737989 | G | GAAGAAAG others(33): Show |
intron_variant | MODIFIER | HG02735.hp1 HG02735.hp2 HG02965.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0220 a0001c0001t0003g0032 a0001c0001t0004g0126 others(2): Show |
5 | 76 | 0.0658 | 40 | c.70+ others(55): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8737989 | G | GAAGGAAG others(33): Show |
intron_variant | MODIFIER | HG02293.hp2 HG03834.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0003 | a0001c0001t0003g0253 a0001c0003t0003g0216 |
2 | 73 | 0.0274 | 40 | c.70+ others(55): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8737989 | G | GAAGGAAG others(33): Show |
intron_variant | MODIFIER | HG04199.hp2 NA18747.hp1 |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0028a0002c0005t0015 | a0001c0001t0028g0072 a0002c0005t0015g0085 |
2 | 73 | 0.0274 | 40 | c.70+ others(55): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8737989 | G | GAAGGAAG others(33): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0003 | a0003c0010 | a0003c0010t0010 | a0003c0010t0010g0339 | 1 | 72 | 0.0139 | 40 | c.70+ others(55): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69162840 | T | TATACATA others(33): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02922.hp1 NA20129.hp2 |
a0007 | a0007c0008 | a0007c0008t0004a0007c0008t0007 | a0007c0008t0004g0197 a0007c0008t0007g0331 a0007c0008t0007g0333 |
3 | 275 | 0.0109 | 40 | c.336 others(59): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 27/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69210847 | C | CATATATA others(33): Show |
intron_variant | MODIFIER | NA18985.hp2 | a0004 | a0004c0006 | a0004c0006t0003 | a0004c0006t0003g0047 | 1 | 244 | 0.0041 | 40 | c.100 others(59): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48411291 | C | CTTCTTTT others(33): Show |
intron_variant | MODIFIER | HG01123.hp2 NA18944.hp1 |
a0001a0018 | a0001c0010a0018c0026 | a0001c0010t0001a0018c0026t0001 | a0001c0010t0001g0067 a0018c0026t0001g0057 |
2 | 82 | 0.0244 | 40 | c.122 others(59): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 40/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104862639 | C | CGGGCCGG others(33): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0015 | a0015c0020 | a0015c0020t0001 | a0015c0020t0001g0007 | 1 | 310 | 0.0032 | 40 | c.422 others(55): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104862689 | C | CCCCACCC others(33): Show |
intron_variant | MODIFIER | HG01169.hp1 HG02738.hp2 |
a0004a0007 | a0004c0008a0007c0003 | a0004c0008t0003a0007c0003t0016 | a0004c0008t0003g0213 a0007c0003t0016g0297 |
2 | 206 | 0.0097 | 40 | c.422 others(55): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 93998744 | T | TTTATTTT others(33): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0051 | a0051c0103 | a0051c0103t0001 | a0051c0103t0001g0046 | 1 | 235 | 0.0043 | 40 | c.648 others(57): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 47/49 | chr1 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69303807 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | HG02083.hp1 HG02523.hp2 HG02698.hp1 others(4): Show |
a0001a0012 | a0001c0002a0012c0015 | a0001c0002t0001a0001c0002t0013a0012c0015t0001 | a0001c0002t0001g0057 a0001c0002t0001g0068 a0001c0002t0001g0102 others(4): Show |
7 | 238 | 0.0294 | 40 | c.930 others(55): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68887911 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0147 | 1 | 88 | 0.0114 | 40 | c.314 others(57): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 24/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68958444 | A | ATATATAT others(33): Show |
upstream_gene_variant | MODIFIER | NA19010.hp2 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0202 | 1 | 123 | 0.0081 | 40 | c.-33 others(51): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 3053 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68958591 | A | ATATATTA others(33): Show |
upstream_gene_variant | MODIFIER | HG02040.hp2 NA18959.hp2 NA19001.hp1 |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0002c0006t0001 | a0001c0001t0001g0198 a0001c0001t0001g0236 a0002c0006t0001g0237 |
3 | 137 | 0.0219 | 40 | c.-35 others(51): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 3200 | chr17 | TogoVar | |||||||
ABCB4_chr7_87396696_87480680 | 87468941 | T | TAAATAAA others(33): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG01109.hp1 others(71): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0007a0001c0026others(7): Show | a0001c0002t0001a0001c0007t0001a0001c0026t0001others(7): Show | a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0011 others(56): Show |
74 | 212 | 0.3491 | 40 | c.135 others(57): Show |
ABCB4 | ENSG00000005471.19 | transcript | ENST00000649586.2 | protein_coding | 3/27 | chr7 | TogoVar | |||||||
ABCB5_chr7_20610667_20762008 | 20668545 | A | ATGAGGAG others(33): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02717.hp2 HG03579.hp2 |
a0018 | a0018c0084a0018c0085a0018c0086 | a0018c0084t0004a0018c0085t0004a0018c0086t0004 | a0018c0084t0004g0124 a0018c0085t0004g0126 a0018c0086t0004g0125 |
3 | 358 | 0.0084 | 40 | c.170 others(59): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20668833 | C | CGTCCGGG others(33): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0002 | a0002c0003 | a0002c0003t0011 | a0002c0003t0011g0015 | 1 | 354 | 0.0028 | 40 | c.170 others(61): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 15999836 | C | CTCTCTCT others(33): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 104 | 0.0096 | 40 | c.49- others(55): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 15999836 | C | CTCTCTCT others(33): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02809.hp1 |
a0001a0008 | a0001c0001a0008c0021 | a0001c0001t0004a0008c0021t0006 | a0001c0001t0004g0170 a0008c0021t0006g0151 |
2 | 105 | 0.0190 | 40 | c.49- others(55): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 15999836 | C | CTCTTTCT others(33): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0240 | 1 | 104 | 0.0096 | 40 | c.49- others(55): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 16124335 | G | GTGTGTGT others(33): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01243.hp1 HG02129.hp2 |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0004a0001c0003t0004a0001c0004t0002 | a0001c0001t0004g0247 a0001c0003t0004g0230 a0001c0004t0002g0198 |
3 | 149 | 0.0201 | 40 | c.359 others(57): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 24/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCC2_chr10_99777640_99857594 | 99778449 | C | CAGAGAGA others(33): Show |
upstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 122 | 0.0082 | 40 | c.-43 others(51): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 4190 | chr10 | TogoVar | |||||||
ABCC2_chr10_99777640_99857594 | 99778455 | G | GAGAGAGA others(33): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0127 | 1 | 224 | 0.0045 | 40 | c.-43 others(51): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 4184 | chr10 | TogoVar | |||||||
ABCC3_chr17_50629881_50697253 | 50674034 | C | CTCTCTCT others(33): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 102 | 0.0098 | 40 | c.259 others(57): 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(33): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 102 | 0.0098 | 40 | c.259 others(57): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 19/30 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95196582 | G | GAGGAAGG others(33): Show |
intron_variant | MODIFIER | HG00673.hp2 NA18966.hp2 |
a0001 | a0001c0003a0001c0007 | a0001c0003t0025a0001c0007t0002 | a0001c0003t0025g0243 a0001c0007t0002g0103 |
2 | 58 | 0.0345 | 40 | c.116 others(59): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 8/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95244596 | T | TGAAAGAA others(33): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0005 | a0005c0019 | a0005c0019t0002 | a0005c0019t0002g0216 | 1 | 185 | 0.0054 | 40 | c.306 others(57): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 3/30 | chr13 | TogoVar | |||||||
ABCG2_chr4_88085269_88163639 | 88115232 | G | GTCTCTCT others(33): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01516.hp1 HG01993.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0009a0002c0002t0001others(1): Show | a0001c0001t0001g0048 a0001c0001t0001g0058 a0001c0001t0001g0127 others(6): Show |
9 | 221 | 0.0407 | 40 | c.842 others(55): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 7/15 | chr4 | TogoVar | |||||||
ABCG2_chr4_88085269_88163639 | 88115256 | C | CTCTCTCT others(33): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0297 | 1 | 168 | 0.0060 | 40 | c.842 others(55): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 7/15 | chr4 | TogoVar | |||||||
ABCG2_chr4_88085269_88163639 | 88115256 | C | CTCTCTCT others(33): Show |
intron_variant | MODIFIER | HG01981.hp2 HG03225.hp2 NA18988.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002 | a0001c0001t0001g0317 a0002c0002t0001g0067 a0002c0002t0002g0061 |
3 | 170 | 0.0176 | 40 | c.842 others(55): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 7/15 | chr4 | TogoVar | |||||||
ABCG2_chr4_88085269_88163639 | 88115256 | C | CTCTCTCT others(33): Show |
intron_variant | MODIFIER | HG02132.hp2 HG03017.hp1 NA19063.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0259 a0002c0002t0001g0064 a0002c0002t0001g0070 |
3 | 170 | 0.0176 | 40 | c.842 others(55): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 7/15 | chr4 | TogoVar | |||||||
ABCG2_chr4_88085269_88163639 | 88115256 | C | CTCTCTCT others(33): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02273.hp1 NA19011.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0177 a0001c0001t0001g0205 a0002c0002t0002g0245 |
3 | 170 | 0.0176 | 40 | c.842 others(55): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 7/15 | chr4 | TogoVar | |||||||
ABCG2_chr4_88085269_88163639 | 88115256 | C | CTCTCTCT others(33): Show |
intron_variant | MODIFIER | HG01081.hp1 HG02523.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227 a0001c0001t0001g0228 |
2 | 169 | 0.0118 | 40 | c.842 others(55): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 7/15 | chr4 | TogoVar | |||||||
ABCG2_chr4_88085269_88163639 | 88137012 | C | CAATAAAA others(33): Show |
intron_variant | MODIFIER | NA18612.hp2 NA18953.hp2 NA18960.hp2 others(2): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0305 a0003c0003t0001g0306 a0003c0003t0001g0307 others(2): Show |
5 | 113 | 0.0442 | 40 | c.203 others(57): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 2/15 | chr4 | TogoVar | |||||||
ABCG2_chr4_88085269_88163639 | 88147016 | G | GGAAAGAA others(33): Show |
intron_variant | MODIFIER | HG02027.hp1 HG03831.hp1 HG03927.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 others(3): Show |
6 | 135 | 0.0444 | 40 | c.-19 others(57): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 1/15 | chr4 | TogoVar | |||||||
ABHD12B_chr14_50867053_50909970 | 50870983 | G | GAAAGAAA others(33): Show |
upstream_gene_variant | MODIFIER | NA18942.hp1 NA18954.hp2 NA19074.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0011a0002c0004 | a0001c0001t0001a0001c0011t0007a0002c0004t0002 | a0001c0001t0001g0331 a0001c0001t0001g0338 a0001c0011t0007g0113 others(1): Show |
4 | 120 | 0.0333 | 40 | c.-11 others(51): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1069 | chr14 | TogoVar | |||||||
ABHD12B_chr14_50867053_50909970 | 50870983 | G | GAAAGAAA others(33): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 NA18989.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0049 |
2 | 118 | 0.0169 | 40 | c.-11 others(51): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1069 | chr14 | TogoVar | |||||||
ABHD12B_chr14_50867053_50909970 | 50870983 | G | GAAAGAAA others(33): Show |
upstream_gene_variant | MODIFIER | HG01952.hp2 HG04204.hp2 |
a0002a0003 | a0002c0004a0003c0003 | a0002c0004t0002a0003c0003t0001 | a0002c0004t0002g0089 a0003c0003t0001g0068 |
2 | 118 | 0.0169 | 40 | c.-11 others(51): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1069 | chr14 | TogoVar | |||||||
ABHD12B_chr14_50867053_50909970 | 50870983 | G | GAAAGAAA others(33): Show |
upstream_gene_variant | MODIFIER | HG02155.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0226 | 1 | 117 | 0.0085 | 40 | c.-11 others(51): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1069 | chr14 | TogoVar | |||||||
ABHD12B_chr14_50867053_50909970 | 50870983 | G | GAAAGAAA others(33): Show |
upstream_gene_variant | MODIFIER | HG02027.hp2 NA19056.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0326 a0003c0003t0001g0100 |
2 | 118 | 0.0169 | 40 | c.-11 others(51): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1069 | chr14 | TogoVar | |||||||
ABHD12B_chr14_50867053_50909970 | 50870983 | G | GAAAGAAA others(33): Show |
upstream_gene_variant | MODIFIER | HG01167.hp1 HG02273.hp1 NA18954.hp1 |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0002a0003c0003t0001 | a0001c0001t0001g0018 a0002c0002t0002g0134 a0003c0003t0001g0063 |
3 | 119 | 0.0252 | 40 | c.-11 others(51): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1069 | chr14 | TogoVar | |||||||
ABHD12B_chr14_50867053_50909970 | 50870983 | G | GAAAGAAA others(33): Show |
upstream_gene_variant | MODIFIER | HG02145.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0083 | 1 | 117 | 0.0085 | 40 | c.-11 others(51): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1069 | chr14 | TogoVar | |||||||
ABHD12B_chr14_50867053_50909970 | 50870983 | G | GAAAGAAA others(33): Show |
upstream_gene_variant | MODIFIER | NA18953.hp1 NA18998.hp1 |
a0002 | a0002c0002a0002c0004 | a0002c0002t0002a0002c0004t0002 | a0002c0002t0002g0199 a0002c0004t0002g0204 |
2 | 118 | 0.0169 | 40 | c.-11 others(51): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1069 | chr14 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25312888 | C | CGGAGCCC others(33): Show |
intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0279 | 1 | 180 | 0.0056 | 40 | c.619 others(57): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 6/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25312888 | C | CGGAGCCC others(33): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(128): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0004a0001c0001t0009a0001c0002t0002others(9): Show | a0001c0001t0004g0239 a0001c0001t0004g0291 a0001c0001t0009g0287 others(125): Show |
131 | 310 | 0.4226 | 40 | c.619 others(57): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 6/12 | chr20 | TogoVar |