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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCA5_chr17_69239311_69332133 | 69282983 | T | TGTGGAAG others(8): Show |
intron_variant | MODIFIER | NA19089.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0142 | 1 | 348 | 0.0029 | 15 | c.239 others(32): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 18/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69303783 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0010 | a0001c0010t0010 | a0001c0010t0010g0333 | 1 | 345 | 0.0029 | 15 | c.931 others(30): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69146164 | A | AATATATA others(8): Show |
upstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01106.hp1 others(5): Show |
a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0008 a0006c0007t0001g0023 a0006c0007t0001g0024 others(2): Show |
8 | 176 | 0.0455 | 15 | c.-44 others(26): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 4270 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69146239 | T | TATATATA others(8): Show |
upstream_gene_variant | MODIFIER | HG02055.hp1 HG02280.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0025 a0002c0002t0001g0169 |
2 | 323 | 0.0062 | 15 | c.-45 others(26): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 4345 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68918930 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0009 | a0009c0010 | a0009c0010t0001 | a0009c0010t0001g0122 | 1 | 163 | 0.0061 | 15 | c.178 others(32): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 14/39 | chr17 | TogoVar | |||||||
ABCB10_chr1_229511582_229563707 | 229529295 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03098.hp1 |
a0007 | a0007c0008 | a0007c0008t0003 | a0007c0008t0003g0026 a0007c0008t0003g0027 |
2 | 44 | 0.0455 | 15 | c.164 others(32): Show |
ABCB10 | ENSG00000135776.5 | transcript | ENST00000344517.5 | protein_coding | 8/12 | chr1 | TogoVar | |||||||
ABCB10_chr1_229511582_229563707 | 229550525 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02647.hp1 HG02896.hp1 others(3): Show |
a0001a0002 | a0001c0002a0001c0012a0002c0003 | a0001c0002t0001a0001c0012t0001a0002c0003t0003 | a0001c0002t0001g0038 a0001c0002t0001g0054 a0001c0012t0001g0039 others(3): Show |
6 | 118 | 0.0508 | 15 | c.518 others(32): Show |
ABCB10 | ENSG00000135776.5 | transcript | ENST00000344517.5 | protein_coding | 1/12 | chr1 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168986798 | A | ATGAGACA others(8): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00733.hp2 HG02486.hp1 others(11): Show |
a0002a0003a0004others(3): Show | a0002c0052a0002c0055a0002c0061others(7): Show | a0002c0052t0026a0002c0055t0018a0002c0061t0005others(10): Show | a0002c0052t0026g0097 a0002c0055t0018g0103 a0002c0061t0005g0098 others(11): Show |
14 | 304 | 0.0461 | 15 | c.909 others(30): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 9/27 | chr2 | TogoVar | |||||||
ABCB1_chr7_87498017_87605884 | 87589836 | G | GAGAGAGA others(8): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01358.hp2 HG02647.hp1 others(2): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0007 | a0001c0001t0001a0001c0001t0006a0001c0004t0002others(1): Show | a0001c0001t0001g0065 a0001c0001t0001g0087 a0001c0001t0006g0066 others(2): Show |
5 | 331 | 0.0151 | 15 | c.118 others(32): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 3/27 | chr7 | TogoVar | |||||||
ABCB5_chr7_20610667_20762008 | 20665749 | A | AGATAGAT others(8): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0013 | a0013c0023 | a0013c0023t0001 | a0013c0023t0001g0175 | 1 | 358 | 0.0028 | 15 | c.170 others(34): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20704075 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00609.hp2 others(83): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0005a0002c0003others(29): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(43): Show | a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0222 others(83): Show |
86 | 128 | 0.6719 | 15 | c.233 others(32): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 19/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20731355 | G | GAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02135.hp2 NA18612.hp2 NA18950.hp1 others(1): Show |
a0009a0013a0063others(1): Show | a0009c0018a0013c0022a0063c0103others(1): Show | a0009c0018t0008a0013c0022t0021a0063c0103t0019others(1): Show | a0009c0018t0008g0312 a0013c0022t0021g0161 a0063c0103t0019g0315 others(1): Show |
4 | 342 | 0.0117 | 15 | c.286 others(34): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 23/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20733182 | C | CATTATTA others(8): Show |
intron_variant | MODIFIER | HG02135.hp2 NA18612.hp2 NA18949.hp2 others(1): Show |
a0009a0013a0062others(1): Show | a0009c0018a0013c0022a0062c0081others(1): Show | a0009c0018t0008a0013c0022t0021a0062c0081t0008others(1): Show | a0009c0018t0008g0312 a0013c0022t0021g0161 a0062c0081t0008g0106 others(1): Show |
4 | 341 | 0.0117 | 15 | c.286 others(34): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 23/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20758545 | A | ATGACCTC others(8): Show |
downstream_gene_variant | MODIFIER | HG03041.hp1 | a0019 | a0019c0072 | a0019c0072t0013 | a0019c0072t0013g0058 | 1 | 358 | 0.0028 | 15 | c.*29 others(26): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 1538 | chr7 | TogoVar | |||||||
ABCB7_chrX_75046048_75161283 | 75104047 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01071.hp1 HG03239.hp2 NA18967.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0175 a0001c0001t0001g0184 a0001c0001t0001g0189 others(1): Show |
4 | 25 | 0.1600 | 15 | c.334 others(32): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 3/15 | chrX | TogoVar | |||||||
ABCB7_chrX_75046048_75161283 | 75122861 | G | GTGTGTGT others(8): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 10 | 0.1000 | 15 | c.169 others(32): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 1/15 | chrX | TogoVar | |||||||
ABCC11_chr16_48160773_48252539 | 48226072 | C | CATTATTA others(8): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG02145.hp2 others(9): Show |
a0004a0006a0010 | a0004c0009a0006c0011a0010c0010 | a0004c0009t0001a0004c0009t0010a0006c0011t0002others(1): Show | a0004c0009t0001g0126 a0004c0009t0001g0128 a0004c0009t0001g0129 others(8): Show |
12 | 134 | 0.0896 | 15 | c.396 others(32): Show |
ABCC11 | ENSG00000121270.16 | transcript | ENST00000356608.7 | protein_coding | 4/29 | chr16 | TogoVar | |||||||
ABCC12_chr16_48075882_48160993 | 48140243 | T | TAAGGATT others(8): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02109.hp2 HG02622.hp2 others(15): Show |
a0005a0008a0009others(1): Show | a0005c0010a0005c0021a0005c0029others(4): Show | a0005c0010t0002a0005c0021t0002a0005c0029t0018others(6): Show | a0005c0010t0002g0023 a0005c0010t0002g0024 a0005c0010t0002g0027 others(13): Show |
18 | 132 | 0.1364 | 15 | c.657 others(30): Show |
ABCC12 | ENSG00000140798.17 | transcript | ENST00000311303.8 | protein_coding | 6/30 | chr16 | TogoVar | |||||||
ABCC12_chr16_48075882_48160993 | 48149649 | A | ACAGATGT others(8): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG01891.hp2 others(18): Show |
a0004a0012a0013others(6): Show | a0004c0007a0004c0013a0012c0016others(7): Show | a0004c0007t0003a0004c0013t0003a0012c0016t0005others(7): Show | a0004c0007t0003g0101 a0004c0007t0003g0102 a0004c0007t0003g0103 others(17): Show |
21 | 132 | 0.1591 | 15 | c.-50 others(32): Show |
ABCC12 | ENSG00000140798.17 | transcript | ENST00000311303.8 | protein_coding | 2/30 | chr16 | TogoVar | |||||||
ABCC1_chr16_15944616_16148053 | 15949611 | G | GCGCCGCC others(8): Show |
upstream_gene_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG00609.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(5): Show | a0001c0001t0001g0071 a0001c0001t0003g0070 a0001c0001t0008g0054 others(6): Show |
9 | 59 | 0.1525 | 15 | c.-14 others(24): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 4 | chr16 | TogoVar | |||||||
ABCC1_chr16_15944616_16148053 | 15982803 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00609.hp2 HG00621.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(16): Show | a0001c0001t0001g0217 a0001c0002t0001g0050 a0001c0002t0003g0014 others(21): Show |
24 | 73 | 0.3288 | 15 | c.49- others(32): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 16006853 | C | CGGTGGGC others(8): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0004 | a0001c0004t0013 | a0001c0004t0013g0048 | 1 | 239 | 0.0042 | 15 | c.49- others(28): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 16031901 | T | TGGGGCTC others(8): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(52): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(19): Show | a0001c0001t0001g0084 a0001c0001t0004g0170 a0001c0001t0004g0240 others(52): Show |
55 | 248 | 0.2218 | 15 | c.616 others(32): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 5/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 16143530 | C | CTTTTTTT others(8): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 HG03098.hp1 HG03195.hp1 others(1): Show |
a0001a0002a0010 | a0001c0001a0001c0007a0002c0010others(1): Show | a0001c0001t0001a0001c0007t0001a0002c0010t0002others(1): Show | a0001c0001t0001g0031 a0001c0007t0001g0026 a0002c0010t0002g0076 others(1): Show |
4 | 51 | 0.0784 | 15 | c.*22 others(26): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 478 | chr16 | TogoVar | |||||||
ABCC3_chr17_50629881_50697253 | 50673992 | C | CTTTCTTT others(8): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 283 | 0.0035 | 15 | c.259 others(32): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 19/30 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ABCC3_chr17_50629881_50697253 | 50673993 | T | TTTCTTTC others(8): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0119 | 1 | 303 | 0.0033 | 15 | c.259 others(32): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 19/30 | chr17 | TogoVar | |||||||
ABCC3_chr17_50629881_50697253 | 50694129 | C | CAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 HG02145.hp2 HG03486.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0088 a0001c0001t0001g0132 others(3): Show |
6 | 23 | 0.2609 | 15 | c.*29 others(26): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 1877 | chr17 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95054021 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02818.hp1 |
a0001 | a0001c0013a0001c0050 | a0001c0013t0001a0001c0050t0005 | a0001c0013t0001g0038 a0001c0050t0005g0036 |
2 | 20 | 0.1000 | 15 | c.336 others(32): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 26/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95218846 | G | GAAAGAAA others(8): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02970.hp1 NA21309.hp1 |
a0001 | a0001c0007a0001c0010a0001c0023 | a0001c0007t0019a0001c0010t0024a0001c0023t0003 | a0001c0007t0019g0026 a0001c0010t0024g0023 a0001c0023t0003g0073 |
3 | 232 | 0.0129 | 15 | c.532 others(32): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 4/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95286123 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00438.hp2 others(32): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(24): Show | a0001c0001t0002g0206 a0001c0002t0001g0136 a0001c0002t0001g0160 others(32): Show |
35 | 129 | 0.2713 | 15 | c.74+ others(32): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 1/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95291009 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01109.hp1 HG03209.hp2 |
a0001a0007 | a0001c0002a0001c0036a0007c0069 | a0001c0002t0002a0001c0036t0001a0007c0069t0009 | a0001c0002t0002g0162 a0001c0036t0001g0194 a0007c0069t0009g0043 |
3 | 188 | 0.0160 | 15 | c.74+ others(32): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 1/30 | chr13 | TogoVar | |||||||
ABCC5_chr3_183914934_184022884 | 184012047 | A | ACACACAC others(8): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0204 | 1 | 374 | 0.0027 | 15 | c.129 others(32): Show |
ABCC5 | ENSG00000114770.17 | transcript | ENST00000334444.11 | protein_coding | 2/29 | chr3 | TogoVar | |||||||
ABCC6_chr16_16144565_16228494 | 16149370 | A | AAATACAC others(8): Show |
downstream_gene_variant | MODIFIER | HG02895.hp1 | a0013 | a0013c0025 | a0013c0025t0001 | a0013c0025t0001g0007 | 1 | 226 | 0.0044 | 15 | c.*76 others(24): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 194 | chr16 | TogoVar | |||||||
ABCC6_chr16_16144565_16228494 | 16172318 | T | TGGGTGGG others(8): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02040.hp1 HG02257.hp2 others(9): Show |
a0001a0004 | a0001c0001a0001c0004a0001c0072others(1): Show | a0001c0001t0001a0001c0004t0001a0001c0072t0001others(1): Show | a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0064 others(9): Show |
12 | 101 | 0.1188 | 15 | c.278 others(32): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 21/30 | chr16 | TogoVar | |||||||
ABCC6_chr16_16144565_16228494 | 16172318 | T | TGGGTGGG others(8): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00423.hp1 others(38): Show |
a0001a0002a0004others(7): Show | a0001c0001a0001c0004a0001c0006others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(16): Show | a0001c0001t0001g0003 a0001c0001t0001g0192 a0001c0001t0001g0229 others(38): Show |
41 | 130 | 0.3154 | 15 | c.278 others(32): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 21/30 | chr16 | TogoVar | |||||||
ABCC6_chr16_16144565_16228494 | 16174759 | A | ACCCCCCC others(8): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0335 | 1 | 229 | 0.0044 | 15 | c.266 others(34): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 20/30 | chr16 | TogoVar | |||||||
ABCC9_chr12_21792389_21946426 | 21915514 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0188 a0001c0001t0008g0189 |
2 | 39 | 0.0513 | 15 | c.816 others(30): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 7/39 | chr12 | TogoVar | |||||||
ABCD3_chr1_94413389_94523663 | 94418421 | A | AGCCGCCG others(8): Show |
5_prime_UTR_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0004 | a0001c0004t0016 | a0001c0004t0016g0020 | 1 | 349 | 0.0029 | 15 | c.-49 others(22): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 1/23 | 34 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCF3_chr3_184181199_184199005 | 184187217 | A | AGTTTTGT others(8): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0035 | 1 | 394 | 0.0025 | 15 | c.302 others(30): Show |
ABCF3 | ENSG00000161204.12 | transcript | ENST00000429586.7 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABCF3_chr3_184181199_184199005 | 184191749 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 179 | 0.0056 | 15 | c.156 others(32): Show |
ABCF3 | ENSG00000161204.12 | transcript | ENST00000429586.7 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABCG1_chr21_42214140_42302244 | 42279278 | G | GGAATTCT others(8): Show |
intron_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0054 | 1 | 352 | 0.0028 | 15 | c.588 others(32): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ABCG2_chr4_88085269_88163639 | 88137012 | C | CAATAAAA others(8): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01081.hp2 HG01169.hp1 others(16): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(3): Show | a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0071 others(15): Show |
19 | 127 | 0.1496 | 15 | c.203 others(32): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 2/15 | chr4 | TogoVar | |||||||
ABCG4_chr11_119144052_119167653 | 119147464 | G | GAAAATAA others(8): Show |
upstream_gene_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 233 | 0.0043 | 15 | c.-19 others(26): Show |
ABCG4 | ENSG00000172350.10 | transcript | ENST00000619701.5 | protein_coding | 1587 | chr11 | TogoVar | |||||||
ABCG4_chr11_119144052_119167653 | 119147518 | A | AAAGAAAG others(8): Show |
upstream_gene_variant | MODIFIER | HG02004.hp1 HG02135.hp2 HG02630.hp1 others(6): Show |
a0001 | a0001c0001a0001c0016 | a0001c0001t0001a0001c0016t0007 | a0001c0001t0001g0001 a0001c0001t0001g0025 a0001c0001t0001g0033 others(2): Show |
9 | 176 | 0.0511 | 15 | c.-18 others(26): Show |
ABCG4 | ENSG00000172350.10 | transcript | ENST00000619701.5 | protein_coding | 1533 | chr11 | TogoVar | |||||||
ABCG4_chr11_119144052_119167653 | 119147518 | A | AAAGGAAG others(8): Show |
upstream_gene_variant | MODIFIER | HG00642.hp2 HG02559.hp2 |
a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0026 | 2 | 169 | 0.0118 | 15 | c.-18 others(26): Show |
ABCG4 | ENSG00000172350.10 | transcript | ENST00000619701.5 | protein_coding | 1533 | chr11 | TogoVar | |||||||
ABHD10_chr3_111974026_111998368 | 111986428 | G | GTTTGTTT others(8): Show |
intron_variant | MODIFIER | HG02559.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0034 | 2 | 242 | 0.0083 | 15 | c.438 others(28): Show |
ABHD10 | ENSG00000144827.9 | transcript | ENST00000273359.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50882373 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02056.hp2 HG02572.hp1 HG02630.hp1 others(5): Show |
a0001a0002a0004 | a0001c0001a0001c0006a0001c0011others(2): Show | a0001c0001t0001a0001c0006t0001a0001c0006t0013others(3): Show | a0001c0001t0001g0296 a0001c0006t0001g0058 a0001c0006t0001g0128 others(5): Show |
8 | 14 | 0.5714 | 15 | c.486 others(30): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50887211 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA19030.hp1 NA19030.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0296 a0003c0003t0001g0027 |
2 | 4 | 0.5000 | 15 | c.700 others(30): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50894851 | C | CTTCCTCC others(8): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01361.hp2 HG01884.hp1 others(26): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0031 a0001c0001t0001g0182 a0001c0001t0001g0207 others(26): Show |
29 | 374 | 0.0775 | 15 | c.780 others(32): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | chr14 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25313578 | A | AAAAATAA others(8): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00639.hp2 others(53): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0025 others(52): Show |
56 | 106 | 0.5283 | 15 | c.619 others(32): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 6/12 | chr20 | TogoVar |