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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A1BG_chr19_58340183_58358492 | 58347677 | C | CCCCAGGC others(16): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01192.hp1 HG01243.hp1 others(31): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(9): Show | a0001c0001t0001g0047 a0001c0001t0003g0031 a0001c0001t0003g0074 others(15): Show |
34 | 384 | 0.0885 | 23 | c.119 others(38): Show |
A1BG | ENSG00000121410.12 | transcript | ENST00000263100.8 | protein_coding | 6/7 | chr19 | TogoVar | |||||||
A1BG_chr19_58340183_58358492 | 58347696 | C | CCGCGCCC others(16): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0090 | 1 | 384 | 0.0026 | 23 | c.119 others(38): Show |
A1BG | ENSG00000121410.12 | transcript | ENST00000263100.8 | protein_coding | 6/7 | chr19 | TogoVar | |||||||
A3GALT2_chr1_33301766_33326098 | 33307527 | T | TACTCCCA others(16): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 415 | 0.0024 | 23 | c.336 others(36): Show |
A3GALT2 | ENSG00000184389.9 | transcript | ENST00000442999.3 | protein_coding | 4/4 | chr1 | TogoVar | |||||||
AACS_chr12_125060435_125148316 | 125093380 | G | GACCCCAG others(16): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 362 | 0.0028 | 23 | c.570 others(40): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125138904 | A | AGGAACTG others(16): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00558.hp2 others(77): Show |
a0001a0002a0006 | a0001c0001a0001c0008a0001c0020others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(6): Show | a0001c0001t0001g0038 a0001c0001t0001g0161 a0001c0001t0001g0166 others(76): Show |
80 | 362 | 0.2210 | 23 | c.188 others(42): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125138905 | G | GGAACTGG others(16): Show |
intron_variant | MODIFIER | HG00544.hp1 NA18952.hp2 NA18953.hp1 others(6): Show |
a0001 | a0001c0001a0001c0017 | a0001c0001t0002a0001c0017t0002 | a0001c0001t0002g0045 a0001c0001t0002g0179 a0001c0001t0002g0181 others(6): Show |
9 | 362 | 0.0249 | 23 | c.188 others(42): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AAGAB_chr15_67195667_67259661 | 67222282 | A | ACACACAC others(16): Show |
intron_variant | MODIFIER | NA18953.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0152 | 1 | 271 | 0.0037 | 23 | c.535 others(40): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | chr15 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69493158 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02280.hp1 HG02572.hp1 others(14): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0119a0001c0003t0008a0001c0003t0030others(11): Show | a0001c0001t0119g0188 a0001c0003t0008g0087 a0001c0003t0008g0090 others(14): Show |
17 | 86 | 0.1977 | 23 | c.236 others(42): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | chr2 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70289747 | C | CCGCCCCC others(16): Show |
upstream_gene_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0082 | 1 | 342 | 0.0029 | 23 | c.-34 others(32): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 242 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70289756 | C | CCGCCCCC others(16): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00741.hp2 HG01069.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0086 others(6): Show |
9 | 294 | 0.0306 | 23 | c.-35 others(32): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 251 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70289757 | G | GCCCCCCC others(16): Show |
upstream_gene_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0332 | 1 | 154 | 0.0065 | 23 | c.-35 others(32): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 252 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70289757 | G | GCCCCCCC others(16): Show |
upstream_gene_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 154 | 0.0065 | 23 | c.-35 others(32): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 252 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70293597 | A | ATTTTTTT others(16): Show |
upstream_gene_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0055 | 1 | 90 | 0.0111 | 23 | c.-42 others(34): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4092 | chr16 | TogoVar | |||||||
AASS_chr7_122068549_122149249 | 122140485 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG01993.hp1 NA19000.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0273 a0001c0001t0003g0312 |
2 | 94 | 0.0213 | 23 | c.-16 others(40): Show |
AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 1/23 | chr7 | TogoVar | |||||||
AATF_chr17_36943954_37061871 | 37014292 | T | TAATAATA others(16): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0091 | 1 | 238 | 0.0042 | 23 | c.139 others(42): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AATK_chr17_81112295_81171221 | 81140907 | G | GGCCGTGG others(16): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0017 | a0017c0039 | a0017c0039t0001 | a0017c0039t0001g0260 | 1 | 326 | 0.0031 | 23 | c.56- others(38): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
ABAT_chr16_8669617_8789570 | 8710727 | A | AGAGAGAG others(16): Show |
intron_variant | MODIFIER | HG02015.hp1 HG02155.hp2 |
a0001a0002 | a0001c0023a0002c0005 | a0001c0023t0024a0002c0005t0003 | a0001c0023t0024g0276 a0002c0005t0003g0067 |
2 | 103 | 0.0194 | 23 | c.-41 others(42): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8723828 | T | TATATATA others(16): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0213 | 1 | 332 | 0.0030 | 23 | c.-41 others(42): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | chr16 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69210865 | T | TATATATA others(16): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0007 | a0007c0008 | a0007c0008t0007 | a0007c0008t0007g0332 | 1 | 338 | 0.0030 | 23 | c.100 others(42): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48637381 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02132.hp2 HG02258.hp2 HG03579.hp2 others(1): Show |
a0002a0044a0045 | a0002c0002a0002c0022a0044c0114others(1): Show | a0002c0002t0004a0002c0022t0004a0044c0114t0004others(1): Show | a0002c0002t0004g0106 a0002c0022t0004g0163 a0044c0114t0004g0065 others(1): Show |
4 | 56 | 0.0714 | 23 | c.148 others(44): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 59/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104882028 | T | TAAAAAAA others(16): Show |
intron_variant | MODIFIER | NA18942.hp2 NA18982.hp1 NA18985.hp1 others(3): Show |
a0001a0002a0003others(2): Show | a0001c0005a0002c0011a0003c0002others(2): Show | a0001c0005t0002a0002c0011t0020a0003c0002t0007others(3): Show | a0001c0005t0002g0064 a0002c0011t0020g0226 a0003c0002t0007g0058 others(3): Show |
6 | 26 | 0.2308 | 23 | c.421 others(39): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94026091 | C | CTTACATT others(16): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0063 | 1 | 304 | 0.0033 | 23 | c.454 others(42): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 30/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94117007 | T | TTTCTTTC others(16): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02965.hp2 HG03098.hp2 others(1): Show |
a0001a0006 | a0001c0006a0001c0007a0006c0076 | a0001c0006t0001a0001c0007t0001a0006c0076t0001 | a0001c0006t0001g0177 a0001c0006t0001g0180 a0001c0007t0001g0176 others(1): Show |
4 | 281 | 0.0142 | 23 | c.67- others(38): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 1/49 | chr1 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69263697 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0004 | a0004c0005 | a0004c0005t0030 | a0004c0005t0030g0207 | 1 | 17 | 0.0588 | 23 | c.331 others(42): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 24/38 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68958475 | A | AATATATA others(16): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0164 | 1 | 272 | 0.0037 | 23 | c.-34 others(34): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 3084 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68958519 | T | TAATATAA others(16): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 HG02559.hp1 HG02572.hp1 others(14): Show |
a0001a0002a0003others(3): Show | a0001c0005a0001c0011a0002c0022others(4): Show | a0001c0005t0001a0001c0011t0001a0002c0022t0001others(4): Show | a0001c0005t0001g0137 a0001c0005t0001g0138 a0001c0005t0001g0139 others(14): Show |
17 | 110 | 0.1545 | 23 | c.-34 others(34): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 3128 | chr17 | TogoVar | |||||||
ABCB10_chr1_229511582_229563707 | 229535038 | T | TAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0004 | a0004c0005 | a0004c0005t0005 | a0004c0005t0005g0013 | 1 | 90 | 0.0111 | 23 | c.134 others(42): Show |
ABCB10 | ENSG00000135776.5 | transcript | ENST00000344517.5 | protein_coding | 6/12 | chr1 | TogoVar | |||||||
ABCB10_chr1_229511582_229563707 | 229550525 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0053 | 1 | 113 | 0.0088 | 23 | c.518 others(40): Show |
ABCB10 | ENSG00000135776.5 | transcript | ENST00000344517.5 | protein_coding | 1/12 | chr1 | TogoVar | |||||||
ABCB1_chr7_87498017_87605884 | 87502422 | T | TTATATAT others(16): Show |
downstream_gene_variant | MODIFIER | HG03098.hp1 HG03130.hp1 NA19011.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 a0001c0001t0001g0214 a0001c0001t0001g0250 |
3 | 344 | 0.0087 | 23 | c.*18 others(34): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 594 | chr7 | TogoVar | |||||||
ABCB1_chr7_87498017_87605884 | 87568266 | T | TAATAATA others(16): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008 | a0001c0001t0004g0086 a0001c0001t0008g0097 |
2 | 284 | 0.0070 | 23 | c.339 others(40): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 5/27 | chr7 | TogoVar | |||||||
ABCB5_chr7_20610667_20762008 | 20711776 | T | TTCTCTCT others(16): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0003 | a0003c0010 | a0003c0010t0001 | a0003c0010t0001g0163 | 1 | 171 | 0.0058 | 23 | c.242 others(42): 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(16): Show |
intron_variant | MODIFIER | HG01928.hp1 HG02145.hp1 HG03927.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0065 a0001c0001t0002g0069 a0001c0001t0002g0085 others(1): Show |
4 | 25 | 0.1600 | 23 | c.334 others(40): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 3/15 | chrX | TogoVar | |||||||
ABCC1_chr16_15944616_16148053 | 16032789 | T | TAGCCATT others(16): Show |
intron_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0146 | 1 | 248 | 0.0040 | 23 | c.616 others(38): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 5/30 | chr16 | TogoVar | |||||||
ABCC1_chr16_15944616_16148053 | 16143530 | C | CTTTTTTT others(16): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG01071.hp1 |
a0001 | a0001c0004a0001c0015 | a0001c0004t0013a0001c0015t0013 | a0001c0004t0013g0047 a0001c0015t0013g0035 a0001c0015t0013g0062 |
3 | 50 | 0.0600 | 23 | c.*22 others(34): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 478 | chr16 | TogoVar | |||||||
ABCC2_chr10_99777640_99857594 | 99778455 | G | GAGAGAGA others(16): Show |
upstream_gene_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0037 | 1 | 224 | 0.0045 | 23 | c.-43 others(34): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 4184 | chr10 | TogoVar | |||||||
ABCC2_chr10_99777640_99857594 | 99814468 | T | TATGTGTG others(16): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0251 | 1 | 334 | 0.0030 | 23 | c.209 others(42): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 16/31 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ABCC3_chr17_50629881_50697253 | 50673965 | T | TTTCTTTC others(16): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0258 | 1 | 338 | 0.0030 | 23 | c.259 others(40): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 19/30 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ABCC3_chr17_50629881_50697253 | 50674030 | C | CTCTTCTT others(16): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0038 | a0001c0038t0001 | a0001c0038t0001g0192 | 1 | 145 | 0.0069 | 23 | c.259 others(40): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 19/30 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ABCC3_chr17_50629881_50697253 | 50674034 | C | CTCTTCTT others(16): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0321 | 1 | 102 | 0.0098 | 23 | c.259 others(40): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 19/30 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21915251 | G | GTGTGTAT others(16): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0179 | 1 | 209 | 0.0048 | 23 | c.816 others(38): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 7/39 | chr12 | TogoVar | |||||||
ABCC9_chr12_21792389_21946426 | 21915514 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01175.hp1 HG02698.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0020 | a0001c0001t0001g0052 a0001c0001t0001g0115 a0001c0001t0020g0122 |
3 | 40 | 0.0750 | 23 | c.816 others(38): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 7/39 | chr12 | TogoVar | |||||||
ABCC9_chr12_21792389_21946426 | 21915514 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG02257.hp1 NA18747.hp2 NA18983.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0093 a0001c0001t0001g0181 |
3 | 40 | 0.0750 | 23 | c.816 others(38): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 7/39 | chr12 | TogoVar | |||||||
ABCC9_chr12_21792389_21946426 | 21915514 | A | ATATTTTT others(16): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 38 | 0.0263 | 23 | c.816 others(38): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 7/39 | chr12 | TogoVar | |||||||
ABCD4_chr14_74280269_74307934 | 74306173 | T | TATATATA others(16): Show |
upstream_gene_variant | MODIFIER | HG02630.hp2 HG02818.hp2 |
a0003a0007 | a0003c0003a0007c0007 | a0003c0003t0011a0007c0007t0023 | a0003c0003t0011g0051 a0007c0007t0023g0047 |
2 | 375 | 0.0053 | 23 | c.-32 others(34): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 3240 | chr14 | TogoVar | |||||||
ABCG1_chr21_42214140_42302244 | 42218427 | A | ATGAACAC others(16): Show |
upstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01081.hp1 others(32): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0325 others(30): Show |
35 | 352 | 0.0994 | 23 | c.-83 others(32): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 712 | chr21 | TogoVar | |||||||
ABCG1_chr21_42214140_42302244 | 42271466 | T | TCAGGGAG others(16): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02615.hp1 HG02818.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0009a0001c0001t0017others(1): Show | a0001c0001t0003g0308 a0001c0001t0009g0275 a0001c0001t0017g0007 others(1): Show |
5 | 352 | 0.0142 | 23 | c.404 others(38): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43887143 | C | CAAAAAAA others(16): Show |
downstream_gene_variant | MODIFIER | HG01261.hp2 HG02132.hp2 |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0003a0004c0006t0024 | a0001c0001t0003g0153 a0004c0006t0024g0263 |
2 | 119 | 0.0168 | 23 | c.*92 others(34): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 4156 | chr2 | TogoVar | |||||||
ABHD12B_chr14_50867053_50909970 | 50882373 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0013 | a0001c0013t0003 | a0001c0013t0003g0035 | 1 | 7 | 0.1429 | 23 | c.486 others(38): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25322381 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0197 | 1 | 93 | 0.0108 | 23 | c.422 others(38): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 3/12 | chr20 | TogoVar | |||||||
ABHD14A_chr3_51970064_51986196 | 51981894 | C | CAAAAAAA others(16): Show |
downstream_gene_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0006 | 1 | 48 | 0.0208 | 23 | c.*87 others(32): Show |
ABHD14A | ENSG00000248487.10 | transcript | ENST00000273596.8 | protein_coding | 699 | chr3 | TogoVar |