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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AADACL4_chr1_12639085_12672076 | 12658166 | T | TTCTTTCT others(35): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 267 | 0.0037 | 42 | c.386 others(59): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69162808 | T | TATATACA others(35): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0016 | a0016c0037 | a0016c0037t0007 | a0016c0037t0007g0328 | 1 | 328 | 0.0030 | 42 | c.336 others(61): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 27/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69162838 | C | CATATACA others(35): Show |
intron_variant | MODIFIER | NA18981.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0020 | 1 | 157 | 0.0064 | 42 | c.336 others(61): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 27/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69303807 | T | TATATATA others(35): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01433.hp2 HG02027.hp1 others(3): Show |
a0001 | a0001c0002a0001c0006a0001c0008others(1): Show | a0001c0002t0001a0001c0002t0013a0001c0006t0001others(2): Show | a0001c0002t0001g0046 a0001c0002t0001g0058 a0001c0002t0013g0085 others(3): Show |
6 | 237 | 0.0253 | 42 | c.930 others(57): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69303861 | T | TATATATA others(35): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0002 | a0002c0001 | a0002c0001t0031 | a0002c0001t0031g0312 | 1 | 218 | 0.0046 | 42 | c.930 others(57): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | |||||||
ABCC1_chr16_15944616_16148053 | 15999836 | C | CTCTCTCT others(35): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0067 | 1 | 104 | 0.0096 | 42 | c.49- others(57): 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(35): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0003 | a0003c0038 | a0003c0038t0006 | a0003c0038t0006g0092 | 1 | 104 | 0.0096 | 42 | c.49- others(57): 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(35): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01928.hp2 NA19056.hp2 others(1): Show |
a0001a0005 | a0001c0002a0001c0005a0005c0034 | a0001c0002t0001a0001c0002t0008a0001c0005t0004others(1): Show | a0001c0002t0001g0221 a0001c0002t0008g0162 a0001c0005t0004g0131 others(1): Show |
4 | 150 | 0.0267 | 42 | c.359 others(59): 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(35): Show |
upstream_gene_variant | MODIFIER | HG03579.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0154 | 1 | 122 | 0.0082 | 42 | c.-43 others(53): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 4190 | chr10 | TogoVar | |||||||
ABCC3_chr17_50629881_50697253 | 50673988 | C | CCTTCCTT others(35): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 281 | 0.0036 | 42 | c.259 others(59): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 19/30 | chr17 | TogoVar | |||||||
ABCC3_chr17_50629881_50697253 | 50674034 | C | CTCTCTCT others(35): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 102 | 0.0098 | 42 | c.259 others(59): 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(35): Show |
intron_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 102 | 0.0098 | 42 | c.259 others(59): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 19/30 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95126734 | T | TATATATA others(35): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0007 | a0001c0007t0019 | a0001c0007t0019g0026 | 1 | 221 | 0.0045 | 42 | c.245 others(63): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 19/30 | chr13 | TogoVar | |||||||
ABCC6_chr16_16144565_16228494 | 16172047 | A | AGTGGGAT others(35): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0024 | 1 | 258 | 0.0039 | 42 | c.278 others(61): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 21/30 | chr16 | TogoVar | |||||||
ABCC6_chr16_16144565_16228494 | 16172057 | A | ATAAATGA others(35): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0110 | 1 | 341 | 0.0029 | 42 | c.278 others(61): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 21/30 | chr16 | TogoVar | |||||||
ABCC6_chr16_16144565_16228494 | 16172106 | A | AATGGGTG others(35): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00423.hp1 others(173): Show |
a0001a0002a0004others(22): Show | a0001c0001a0001c0004a0001c0006others(39): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(43): Show | a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0001g0039 others(172): Show |
176 | 355 | 0.4958 | 42 | c.278 others(61): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 21/30 | chr16 | TogoVar | |||||||
ABCC6_chr16_16144565_16228494 | 16172322 | A | AGTGGGTG others(35): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG00639.hp1 others(40): Show |
a0001a0004a0005others(4): Show | a0001c0002a0001c0026a0001c0028others(6): Show | a0001c0002t0001a0001c0002t0002a0001c0026t0001others(7): Show | a0001c0002t0001g0010 a0001c0002t0001g0023 a0001c0002t0001g0025 others(40): Show |
43 | 324 | 0.1327 | 42 | c.278 others(59): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 21/30 | chr16 | TogoVar | |||||||
ABCC6_chr16_16144565_16228494 | 16172336 | C | CTAAATGA others(35): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0124 | 1 | 169 | 0.0059 | 42 | c.278 others(59): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 21/30 | chr16 | TogoVar | |||||||
ABCC6_chr16_16144565_16228494 | 16172343 | G | AGTGGGTG others(35): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0005 | a0005c0012 | a0005c0012t0001 | a0005c0012t0001g0027 | 1 | 148 | 0.0068 | 42 | c.278 others(59): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 21/30 | chr16 | TogoVar | |||||||
ABCC6_chr16_16144565_16228494 | 16172385 | A | GGTGGGTG others(35): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00423.hp2 others(61): Show |
a0001a0004a0005others(5): Show | a0001c0001a0001c0004a0001c0006others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0021 a0001c0001t0001g0039 a0001c0001t0001g0069 others(61): Show |
64 | 338 | 0.1893 | 42 | c.278 others(59): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 21/30 | chr16 | TogoVar | |||||||
ABCC6_chr16_16144565_16228494 | 16172385 | A | GGTGGGTG others(35): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01261.hp1 HG01358.hp1 others(15): Show |
a0001a0004a0008others(3): Show | a0001c0001a0001c0004a0001c0065others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0002others(7): Show | a0001c0001t0001g0086 a0001c0001t0001g0201 a0001c0001t0001g0202 others(15): Show |
18 | 292 | 0.0616 | 42 | c.278 others(59): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 21/30 | chr16 | TogoVar | |||||||
ABCG2_chr4_88085269_88163639 | 88115232 | G | GTCTCTCT others(35): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02148.hp1 HG02293.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0012 | a0001c0001t0001g0194 a0001c0001t0001g0234 a0001c0001t0001g0268 others(3): Show |
6 | 218 | 0.0275 | 42 | c.842 others(57): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 7/15 | chr4 | TogoVar | |||||||
ABCG2_chr4_88085269_88163639 | 88115256 | C | CTCTCTCT others(35): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0073 | 1 | 168 | 0.0060 | 42 | c.842 others(57): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 7/15 | chr4 | TogoVar | |||||||
ABCG2_chr4_88085269_88163639 | 88115256 | C | CTCTCTCT others(35): Show |
intron_variant | MODIFIER | NA19054.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0266 | 1 | 168 | 0.0060 | 42 | c.842 others(57): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 7/15 | chr4 | TogoVar | |||||||
ABCG2_chr4_88085269_88163639 | 88115256 | C | CTCTCTCT others(35): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0334 | 1 | 168 | 0.0060 | 42 | c.842 others(57): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 7/15 | chr4 | TogoVar | |||||||
ABCG2_chr4_88085269_88163639 | 88115256 | C | CTCTCTCT others(35): Show |
intron_variant | MODIFIER | HG03579.hp1 HG03704.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 a0001c0001t0001g0193 |
2 | 169 | 0.0118 | 42 | c.842 others(57): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 7/15 | chr4 | TogoVar | |||||||
ABCG2_chr4_88085269_88163639 | 88115256 | C | CTCTCTCT others(35): Show |
intron_variant | MODIFIER | NA18906.hp2 NA18989.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0282 a0001c0001t0001g0316 |
2 | 169 | 0.0118 | 42 | c.842 others(57): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 7/15 | chr4 | TogoVar | |||||||
ABCG2_chr4_88085269_88163639 | 88115256 | C | CTCTCTCT others(35): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01978.hp1 HG02040.hp1 others(3): Show |
a0001a0010 | a0001c0001a0010c0010 | a0001c0001t0001a0010c0010t0001 | a0001c0001t0001g0126 a0001c0001t0001g0161 a0001c0001t0001g0175 others(3): Show |
6 | 173 | 0.0347 | 42 | c.842 others(57): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 7/15 | chr4 | TogoVar | |||||||
ABHD12B_chr14_50867053_50909970 | 50870937 | A | AAGAAAGA others(35): Show |
upstream_gene_variant | MODIFIER | NA19007.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 1 | 373 | 0.0027 | 42 | c.-12 others(53): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1115 | chr14 | TogoVar | |||||||
ABHD12B_chr14_50867053_50909970 | 50870983 | G | GAAAGAAA others(35): Show |
upstream_gene_variant | MODIFIER | NA19090.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0148 | 1 | 117 | 0.0085 | 42 | c.-11 others(53): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1069 | chr14 | TogoVar | |||||||
ABHD12B_chr14_50867053_50909970 | 50870983 | G | GAAAGAAA others(35): Show |
upstream_gene_variant | MODIFIER | HG01934.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0097 | 1 | 117 | 0.0085 | 42 | c.-11 others(53): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1069 | chr14 | TogoVar | |||||||
ABHD12B_chr14_50867053_50909970 | 50870983 | G | GAGAAAGA others(35): Show |
upstream_gene_variant | MODIFIER | NA18992.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0248 | 1 | 117 | 0.0085 | 42 | c.-11 others(53): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1069 | chr14 | TogoVar | |||||||
ABHD12B_chr14_50867053_50909970 | 50870991 | A | AAGAAAGA others(35): Show |
upstream_gene_variant | MODIFIER | HG02135.hp2 NA18988.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0277 a0002c0002t0002g0136 |
2 | 317 | 0.0063 | 42 | c.-11 others(53): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1061 | chr14 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25322381 | A | ATATATAT others(35): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0224 | 1 | 93 | 0.0108 | 42 | c.422 others(57): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 3/12 | chr20 | TogoVar | |||||||
ABHD6_chr3_58232792_58299734 | 58286844 | G | GTGTGTAT others(35): Show |
intron_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0084 | 1 | 287 | 0.0035 | 42 | c.837 others(59): 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(35): Show |
intron_variant | MODIFIER | HG01074.hp2 HG02273.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 2 | 85 | 0.0235 | 42 | c.837 others(59): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26818631 | C | CAAAAAAA others(35): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0284 | 1 | 189 | 0.0053 | 42 | c.285 others(59): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 2/10 | chr10 | TogoVar | |||||||
ABI2_chr2_203323394_203437169 | 203338953 | T | TATATATA others(35): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0139 | 1 | 303 | 0.0033 | 42 | c.117 others(61): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABLIM1_chr10_114426112_114663275 | 114491012 | G | GTGTGTGT others(35): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03195.hp2 |
a0003 | a0003c0008a0003c0023 | a0003c0008t0012a0003c0023t0012 | a0003c0008t0012g0030 a0003c0023t0012g0134 |
2 | 9 | 0.2222 | 42 | c.982 others(57): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 7/22 | chr10 | TogoVar | |||||||
ABLIM2_chr4_7960327_8163813 | 8076988 | G | GAGGGTGG others(35): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0104 | 1 | 319 | 0.0031 | 42 | c.675 others(57): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 6/20 | chr4 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1032641 | A | ACCCGCGT others(35): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0003 | a0001c0003t0016 | a0001c0003t0016g0230 | 1 | 336 | 0.0030 | 42 | c.179 others(63): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1053339 | A | AAGGGTCT others(35): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(32): Show |
a0001 | a0001c0001a0001c0003a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0089 a0001c0001t0001g0168 a0001c0001t0001g0169 others(32): Show |
35 | 315 | 0.1111 | 42 | c.156 others(61): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 14/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1064963 | A | ACACTGTT others(35): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 336 | 0.0030 | 42 | c.118 others(61): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1078104 | G | GGTGTGTG others(35): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0263 | 1 | 291 | 0.0034 | 42 | c.700 others(59): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 6/22 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37174020 | A | ATATATAT others(35): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0261 | 1 | 99 | 0.0101 | 42 | c.507 others(61): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 41/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37390308 | A | ATATATAT others(35): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0140 | 1 | 296 | 0.0034 | 42 | c.38+ others(59): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | |||||||
ACACB_chr12_109111587_109273226 | 109210235 | A | ATATATAC others(35): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0108 | a0001c0108t0001 | a0001c0108t0001g0011 | 1 | 166 | 0.0060 | 42 | c.324 others(59): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1288997 | T | TCCCCCGT others(35): Show |
downstream_gene_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 250 | 0.0040 | 42 | c.*45 others(53): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3393 | chr1 | TogoVar | |||||||
ACCS_chr11_44061270_44089237 | 44074750 | T | TTCTTTCT others(35): Show |
intron_variant | MODIFIER | HG01891.hp2 HG03098.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0047 | 2 | 236 | 0.0085 | 42 | c.489 others(55): Show |
ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACCS_chr11_44061270_44089237 | 44074750 | T | TTCTTTCT others(35): Show |
intron_variant | MODIFIER | NA18939.hp1 NA18982.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0117 a0002c0003t0001g0125 |
2 | 236 | 0.0085 | 42 | c.489 others(55): Show |
ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |