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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A4GALT_chr22_42687121_42725870 | 42708545 | A | AGAAGGAA others(37): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0201 | 1 | 406 | 0.0025 | 44 | c.-18 others(65): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
AADACL4_chr1_12639085_12672076 | 12658139 | C | CCTTCCTT others(37): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0058 | 1 | 310 | 0.0032 | 44 | c.386 others(61): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AARSD1_chr17_42945526_42969454 | 42967496 | A | ATATATAA others(37): Show |
upstream_gene_variant | MODIFIER | HG02015.hp1 HG02145.hp2 HG03669.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0014a0001c0001t0001g0126others(1): Show | 5 | 324 | 0.0154 | 44 | c.-30 others(55): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 3043 | chr17 | TogoVar | ||||||
AATK_chr17_81112295_81171221 | 81117213 | A | AGGGCTGG others(37): Show |
downstream_gene_variant | MODIFIER | NA19010.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0031 | 1 | 368 | 0.0027 | 44 | c.*11 others(55): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 81 | chr17 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8737989 | G | GAAGAAAG others(37): Show |
intron_variant | MODIFIER | HG02004.hp1 HG02738.hp1 HG03098.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0002a0001c0001t0037a0001c0003t0003others(2): Show | a0001c0001t0002g0149a0001c0001t0037g0289a0001c0003t0003g0300others(2): Show | 5 | 362 | 0.0138 | 44 | c.70+ others(59): 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(37): Show |
intron_variant | MODIFIER | HG03492.hp2 NA18612.hp1 NA18979.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0005 | a0001c0001t0002a0001c0003t0003a0001c0003t0004others(1): Show | a0001c0001t0002g0095a0001c0003t0003g0100a0001c0003t0004g0290others(1): Show | 4 | 362 | 0.0111 | 44 | c.70+ others(59): 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(37): Show |
intron_variant | MODIFIER | HG01169.hp1 NA19084.hp1 |
a0001a0003 | a0001c0001a0003c0010 | a0001c0001t0001a0003c0010t0010 | a0001c0001t0001g0201a0003c0010t0010g0342 | 2 | 362 | 0.0055 | 44 | c.70+ others(59): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABCA10_chr17_69143007_69233824 | 69177970 | A | ATATATAT others(37): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0145 | 1 | 348 | 0.0029 | 44 | c.277 others(63): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 22/38 | chr17 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69177995 | A | ATATATAT others(37): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0261 | 1 | 348 | 0.0029 | 44 | c.277 others(63): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 22/38 | chr17 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48341835 | T | TATATATA others(37): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0104 | a0001c0104t0005 | a0001c0104t0005g0044 | 1 | 178 | 0.0056 | 44 | c.102 others(65): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 29/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48411310 | T | TTTTCTTT others(37): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01070.hp2 HG03486.hp2 others(3): Show |
a0003a0009a0017others(2): Show | a0003c0003a0009c0012a0017c0096others(2): Show | a0003c0003t0004a0009c0012t0002a0017c0096t0001others(2): Show | a0003c0003t0004g0034a0003c0003t0004g0036a0009c0012t0002g0094others(3): Show | 6 | 178 | 0.0337 | 44 | c.122 others(63): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 40/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA5_chr17_69239311_69332133 | 69303785 | A | AAAAAAAA others(37): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0102 | 1 | 350 | 0.0029 | 44 | c.931 others(59): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69303807 | T | TATATATA others(37): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0121 | 1 | 350 | 0.0029 | 44 | c.930 others(59): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69303807 | T | TATATATA others(37): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0077 | 1 | 350 | 0.0029 | 44 | c.930 others(59): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168975303 | T | TTATAGAT others(37): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01109.hp2 HG01256.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0084a0001c0001t0001g0184a0001c0002t0003g0130others(1): Show | 4 | 306 | 0.0131 | 44 | c.130 others(63): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ABCB1_chr7_87498017_87605884 | 87502487 | T | TATATAAT others(37): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 HG02818.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060a0001c0001t0001g0260 | 2 | 352 | 0.0057 | 44 | c.*17 others(55): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 529 | chr7 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 15999836 | C | CTCTCTCT others(37): Show |
intron_variant | MODIFIER | HG01071.hp2 HG02818.hp2 |
a0001 | a0001c0005a0001c0007 | a0001c0005t0004a0001c0007t0011 | a0001c0005t0004g0169a0001c0007t0011g0022 | 2 | 249 | 0.0080 | 44 | c.49- others(59): 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(37): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01109.hp1 HG01978.hp1 others(1): Show |
a0001 | a0001c0003a0001c0005 | a0001c0003t0004a0001c0005t0004 | a0001c0003t0004g0188a0001c0003t0004g0237a0001c0005t0004g0169others(1): Show | 4 | 249 | 0.0161 | 44 | c.359 others(61): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 24/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABCC2_chr10_99777640_99857594 | 99814598 | C | CACATGTG others(37): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0028 | 1 | 336 | 0.0030 | 44 | c.209 others(63): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 16/31 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ABCC3_chr17_50629881_50697253 | 50673978 | T | TTCTTTCT others(37): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 342 | 0.0029 | 44 | c.259 others(61): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 19/30 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ABCC4_chr13_95014835_95306451 | 95126732 | T | TATATATA others(37): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0017 | a0017c0035 | a0017c0035t0003 | a0017c0035t0003g0148 | 1 | 248 | 0.0040 | 44 | c.245 others(65): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 19/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95144255 | C | CATAAAAT others(37): Show |
intron_variant | MODIFIER | HG02280.hp1 NA19240.hp1 |
a0001 | a0001c0009a0001c0045 | a0001c0009t0001a0001c0045t0001 | a0001c0009t0001g0128a0001c0045t0001g0129 | 2 | 248 | 0.0081 | 44 | c.245 others(65): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 19/30 | chr13 | TogoVar | ||||||
ABCC6_chr16_16144565_16228494 | 16227933 | A | AATATCAC others(37): Show |
upstream_gene_variant | MODIFIER | HG02273.hp2 HG02280.hp1 HG02922.hp1 others(2): Show |
a0001a0003a0008 | a0001c0047a0003c0005a0008c0011 | a0001c0047t0002a0003c0005t0001a0008c0011t0003 | a0001c0047t0002g0101a0003c0005t0001g0307a0008c0011t0003g0058others(2): Show | 5 | 357 | 0.0140 | 44 | c.-45 others(55): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 4440 | chr16 | TogoVar | ||||||
ABCG2_chr4_88085269_88163639 | 88115232 | G | GTCTCTCT others(37): Show |
intron_variant | MODIFIER | NA19011.hp2 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174a0001c0001t0001g0221 | 2 | 350 | 0.0057 | 44 | c.842 others(59): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 7/15 | chr4 | TogoVar | ||||||
ABCG2_chr4_88085269_88163639 | 88115256 | C | CTCTCTCT others(37): Show |
intron_variant | MODIFIER | NA18942.hp2 NA18983.hp2 |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0006 | 2 | 350 | 0.0057 | 44 | c.842 others(59): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 7/15 | chr4 | TogoVar | ||||||
ABCG2_chr4_88085269_88163639 | 88115256 | C | CTCTCTCT others(37): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0183 | 1 | 350 | 0.0029 | 44 | c.842 others(59): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 7/15 | chr4 | TogoVar | ||||||
ABCG2_chr4_88085269_88163639 | 88115256 | C | CTCTCTCT others(37): Show |
intron_variant | MODIFIER | HG02071.hp1 NA18939.hp2 NA18995.hp1 |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0250a0003c0003t0003g0251a0003c0003t0003g0253 | 3 | 350 | 0.0086 | 44 | c.842 others(59): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 7/15 | chr4 | TogoVar | ||||||
ABCG2_chr4_88085269_88163639 | 88115256 | C | CTCTCTCT others(37): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0313 | 1 | 350 | 0.0029 | 44 | c.842 others(59): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 7/15 | chr4 | TogoVar | ||||||
ABCG2_chr4_88085269_88163639 | 88115256 | C | CTCTCTCT others(37): Show |
intron_variant | MODIFIER | HG01928.hp1 NA19057.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0111a0002c0002t0001g0065 | 2 | 350 | 0.0057 | 44 | c.842 others(59): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 7/15 | chr4 | TogoVar | ||||||
ABCG2_chr4_88085269_88163639 | 88115256 | C | CTCTCTCT others(37): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 350 | 0.0029 | 44 | c.842 others(59): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 7/15 | chr4 | TogoVar | ||||||
ABCG2_chr4_88085269_88163639 | 88115256 | C | CTCTCTCT others(37): Show |
intron_variant | MODIFIER | HG00544.hp2 HG03654.hp1 HG03927.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0222a0001c0001t0001g0243a0002c0002t0002g0069 | 3 | 350 | 0.0086 | 44 | c.842 others(59): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 7/15 | chr4 | TogoVar | ||||||
ABCG2_chr4_88085269_88163639 | 88147016 | G | GGAAAGAA others(37): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01433.hp2 HG02132.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0003a0002c0002t0001g0070 | 3 | 350 | 0.0086 | 44 | c.-19 others(61): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 1/15 | chr4 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43857117 | A | AGATAGAA others(37): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02895.hp2 HG03490.hp1 others(1): Show |
a0003 | a0003c0010 | a0003c0010t0023a0003c0010t0123 | a0003c0010t0023g0036a0003c0010t0023g0037a0003c0010t0023g0039others(1): Show | 4 | 318 | 0.0126 | 44 | c.964 others(61): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABCG8_chr2_43833971_43887988 | 43860902 | C | CTATCTGG others(37): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00741.hp2 HG01943.hp1 others(19): Show |
a0003a0006a0010 | a0003c0002a0003c0021a0003c0022others(2): Show | a0003c0002t0003a0003c0002t0004a0003c0002t0005others(11): Show | a0003c0002t0003g0172a0003c0002t0004g0021a0003c0002t0004g0214others(18): Show | 22 | 318 | 0.0692 | 44 | c.964 others(61): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABCG8_chr2_43833971_43887988 | 43868492 | T | TTATCTGT others(37): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0017 | a0017c0028 | a0017c0028t0047 | a0017c0028t0047g0291 | 1 | 318 | 0.0031 | 44 | c.965 others(61): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABHD12B_chr14_50867053_50909970 | 50870983 | G | GAAAGAAA others(37): Show |
upstream_gene_variant | MODIFIER | HG02165.hp1 HG03130.hp1 NA18961.hp1 |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0002a0003c0003t0003 | a0001c0001t0001g0237a0002c0002t0002g0229a0003c0003t0003g0076 | 3 | 376 | 0.0080 | 44 | c.-11 others(55): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1069 | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50870983 | G | GAAAGAAA others(37): Show |
upstream_gene_variant | MODIFIER | HG01516.hp2 NA18968.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0097a0002c0002t0002g0335 | 2 | 376 | 0.0053 | 44 | c.-11 others(55): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1069 | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50870983 | G | GAAAGAAA others(37): Show |
upstream_gene_variant | MODIFIER | HG03710.hp2 NA18971.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0014a0003c0003t0001 | a0001c0001t0014g0349a0003c0003t0001g0053 | 2 | 376 | 0.0053 | 44 | c.-11 others(55): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1069 | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50870983 | G | GAAAGAAA others(37): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 NA18991.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0115a0003c0003t0001g0118 | 2 | 376 | 0.0053 | 44 | c.-11 others(55): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1069 | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50870983 | G | GAAAGAAA others(37): Show |
upstream_gene_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220 | 1 | 376 | 0.0027 | 44 | c.-11 others(55): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1069 | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50870983 | G | GAAAGAAA others(37): Show |
upstream_gene_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 376 | 0.0027 | 44 | c.-11 others(55): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1069 | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50870983 | G | GAAAGAAA others(37): Show |
upstream_gene_variant | MODIFIER | HG00621.hp1 HG01256.hp2 HG03490.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0222a0001c0001t0001g0238a0003c0003t0001g0140 | 3 | 376 | 0.0080 | 44 | c.-11 others(55): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1069 | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50870983 | G | GAAAGAAA others(37): Show |
upstream_gene_variant | MODIFIER | HG01981.hp1 HG02148.hp2 NA18980.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0005t0004a0002c0002t0002 | a0001c0001t0001g0160a0001c0001t0001g0256a0001c0001t0001g0263others(2): Show | 5 | 376 | 0.0133 | 44 | c.-11 others(55): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1069 | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50870983 | G | GAAAGAGA others(37): Show |
upstream_gene_variant | MODIFIER | HG01070.hp1 HG01928.hp1 HG03831.hp1 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0004 | a0001c0001t0001g0018a0001c0001t0001g0124a0001c0001t0001g0274others(1): Show | 4 | 376 | 0.0106 | 44 | c.-11 others(55): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1069 | chr14 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25322381 | A | ATATATAT others(37): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01106.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0159a0001c0002t0002g0209 | 2 | 316 | 0.0063 | 44 | c.422 others(59): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 3/12 | chr20 | TogoVar | ||||||
ABHD6_chr3_58232792_58299734 | 58286842 | G | GTGTGTGT others(37): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0119 | 1 | 302 | 0.0033 | 44 | c.837 others(61): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58286844 | G | GTGTGTAT others(37): Show |
intron_variant | MODIFIER | HG00735.hp2 HG03491.hp2 HG03492.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0084a0001c0001t0002g0099a0001c0001t0002g0152others(4): Show | 7 | 302 | 0.0232 | 44 | c.837 others(61): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58286848 | G | GTATATAT others(37): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01255.hp2 HG01256.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0104a0001c0001t0002g0122a0001c0001t0002g0127others(7): Show | 10 | 302 | 0.0331 | 44 | c.837 others(61): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58286848 | G | GTATATAT others(37): Show |
intron_variant | MODIFIER | HG01358.hp2 HG01928.hp1 HG01952.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0098a0001c0001t0002g0109a0001c0001t0002g0110others(2): Show | 5 | 302 | 0.0166 | 44 | c.837 others(61): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABLIM2_chr4_7960327_8163813 | 8062065 | G | GCAGGTGA others(37): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0251 | 1 | 322 | 0.0031 | 44 | c.676 others(61): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 6/20 | chr4 | TogoVar |