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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UGT1A7_chr2_233676901_233778300 | 233725218 | A | AGGGGGAG others(8): Show |
intron_variant | MODIFIER | HG02630.hp2 NA19002.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0209 a0001c0001t0004g0261 |
2 | 260 | 0.0077 | 15 | c.856 others(34): Show |
UGT1A7 | ENSG00000244122.3 | transcript | ENST00000373426.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGT1A7_chr2_233676901_233778300 | 233725249 | G | GGCAGAGG others(8): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0181 | 1 | 243 | 0.0041 | 15 | c.856 others(34): Show |
UGT1A7 | ENSG00000244122.3 | transcript | ENST00000373426.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGT1A8_chr2_233612633_233778300 | 233661680 | T | TTTCTTTC others(8): Show |
intron_variant | MODIFIER | HG01243.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 a0001c0001t0001g0286 |
2 | 284 | 0.0070 | 15 | c.855 others(34): Show |
UGT1A8 | ENSG00000242366.4 | transcript | ENST00000373450.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGT1A8_chr2_233612633_233778300 | 233725218 | A | AGGGGGAG others(8): Show |
intron_variant | MODIFIER | HG02630.hp2 NA19002.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0001 | a0001c0001t0004g0252 a0002c0002t0001g0037 |
2 | 234 | 0.0085 | 15 | c.856 others(34): Show |
UGT1A8 | ENSG00000242366.4 | transcript | ENST00000373450.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGT1A8_chr2_233612633_233778300 | 233725249 | G | GGCAGAGG others(8): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 221 | 0.0045 | 15 | c.856 others(34): Show |
UGT1A8 | ENSG00000242366.4 | transcript | ENST00000373450.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGT1A9_chr2_233666898_233778300 | 233725218 | A | AGGGGGAG others(8): Show |
intron_variant | MODIFIER | HG02630.hp2 NA19002.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0093 a0001c0001t0004g0153 |
2 | 258 | 0.0078 | 15 | c.856 others(34): Show |
UGT1A9 | ENSG00000241119.2 | transcript | ENST00000354728.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGT1A9_chr2_233666898_233778300 | 233725249 | G | GGCAGAGG others(8): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 242 | 0.0041 | 15 | c.856 others(34): Show |
UGT1A9 | ENSG00000241119.2 | transcript | ENST00000354728.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGT2A1_chr4_69583417_69658247 | 69619420 | C | CATAAAAT others(8): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02809.hp1 HG02965.hp2 others(2): Show |
a0002a0005 | a0002c0002a0005c0005 | a0002c0002t0001a0005c0005t0002 | a0002c0002t0001g0324 a0002c0002t0001g0325 a0005c0005t0002g0206 others(2): Show |
5 | 262 | 0.0191 | 15 | c.847 others(34): Show |
UGT2A1 | ENSG00000173610.13 | transcript | ENST00000286604.9 | protein_coding | 3/6 | chr4 | TogoVar | |||||||
UGT2A1_chr4_69583417_69658247 | 69635828 | C | CAAAAAAA others(8): Show |
splice_region_variant others(1): Show |
LOW | HG01167.hp1 HG01517.hp2 HG02258.hp2 others(14): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0002a0003c0003t0004 | a0001c0001t0001g0023 a0001c0001t0001g0031 a0001c0001t0001g0123 others(14): Show |
17 | 72 | 0.2361 | 15 | c.716 others(27): Show |
UGT2A1 | ENSG00000173610.13 | transcript | ENST00000286604.9 | protein_coding | 2/6 | chr4 | TogoVar | |||||||
UGT2A2_chr4_69583417_69644642 | 69619420 | C | CATAAAAT others(8): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02809.hp1 HG02965.hp2 others(2): Show |
a0002a0007 | a0002c0002a0007c0006 | a0002c0002t0002a0007c0006t0001 | a0002c0002t0002g0170 a0002c0002t0002g0171 a0002c0002t0002g0172 others(2): Show |
5 | 262 | 0.0191 | 15 | c.742 others(34): Show |
UGT2A2 | ENSG00000271271.6 | transcript | ENST00000604629.6 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
UGT2A2_chr4_69583417_69644642 | 69635828 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01517.hp2 HG02258.hp2 HG02451.hp1 others(15): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0002c0002t0002a0002c0002t0004others(1): Show | a0001c0001t0001g0034 a0001c0001t0001g0182 a0001c0001t0001g0183 others(14): Show |
18 | 72 | 0.2500 | 15 | c.742 others(32): Show |
UGT2A2 | ENSG00000271271.6 | transcript | ENST00000604629.6 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
UGT2B4_chr4_69475165_69500905 | 69500666 | A | AAAGAAAG others(8): Show |
upstream_gene_variant | MODIFIER | HG03704.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0029 | 1 | 381 | 0.0026 | 15 | c.-48 others(26): Show |
UGT2B4 | ENSG00000156096.15 | transcript | ENST00000305107.7 | protein_coding | 4762 | chr4 | TogoVar | |||||||
UGT3A1_chr5_35946006_35996390 | 35994333 | T | TTTGTTTG others(8): Show |
upstream_gene_variant | MODIFIER | HG02027.hp1 NA18612.hp1 NA18747.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0011 | a0001c0001t0001g0134 a0001c0001t0010g0038 a0001c0001t0010g0111 others(4): Show |
9 | 85 | 0.1059 | 15 | c.-30 others(26): Show |
UGT3A1 | ENSG00000145626.12 | transcript | ENST00000274278.8 | protein_coding | 2944 | chr5 | TogoVar | |||||||
UHRF1_chr19_4904501_4967154 | 4938730 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01257.hp1 HG02040.hp1 |
a0001a0002 | a0001c0019a0002c0003 | a0001c0019t0005a0002c0003t0001 | a0001c0019t0005g0223 a0002c0003t0001g0051 |
2 | 94 | 0.0213 | 15 | c.786 others(32): Show |
UHRF1 | ENSG00000276043.5 | transcript | ENST00000650932.1 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
UHRF1_chr19_4904501_4967154 | 4947490 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0138 | 1 | 81 | 0.0123 | 15 | c.151 others(32): Show |
UHRF1 | ENSG00000276043.5 | transcript | ENST00000650932.1 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
UHRF2_chr9_6408199_6512054 | 6451773 | T | TTTGTTGT others(8): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02818.hp1 HG03239.hp2 others(2): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0050 a0001c0001t0001g0115 a0001c0001t0001g0206 others(2): Show |
5 | 6 | 0.8333 | 15 | c.645 others(32): Show |
UHRF2 | ENSG00000147854.17 | transcript | ENST00000276893.10 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UHRF2_chr9_6408199_6512054 | 6487177 | T | TATTTTTT others(8): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 315 | 0.0032 | 15 | c.149 others(32): Show |
UHRF2 | ENSG00000147854.17 | transcript | ENST00000276893.10 | protein_coding | 9/15 | chr9 | TogoVar | |||||||
UIMC1_chr5_176900006_177011779 | 176914039 | C | CACCATAC others(8): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0030 | 1 | 105 | 0.0095 | 15 | c.159 others(34): Show |
UIMC1 | ENSG00000087206.17 | transcript | ENST00000511320.6 | protein_coding | 10/14 | chr5 | TogoVar | |||||||
UIMC1_chr5_176900006_177011779 | 176914069 | T | TACCACAC others(8): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01975.hp1 HG01978.hp1 others(7): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0173 a0003c0004t0001g0175 a0003c0004t0001g0178 others(7): Show |
10 | 289 | 0.0346 | 15 | c.159 others(34): Show |
UIMC1 | ENSG00000087206.17 | transcript | ENST00000511320.6 | protein_coding | 10/14 | chr5 | TogoVar | |||||||
UIMC1_chr5_176900006_177011779 | 176987394 | C | CCAGCACT others(8): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0010 | 1 | 328 | 0.0030 | 15 | c.-8- others(30): Show |
UIMC1 | ENSG00000087206.17 | transcript | ENST00000511320.6 | protein_coding | 1/14 | chr5 | TogoVar | |||||||
ULK1_chr12_131889622_131928150 | 131918906 | T | TAGGGTGT others(8): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0224 | 1 | 161 | 0.0062 | 15 | c.251 others(32): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 23/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131918923 | A | AGGGTGTG others(8): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0273 | 1 | 339 | 0.0029 | 15 | c.251 others(32): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 23/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131918948 | G | GGGGTGCA others(8): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0246 | 1 | 342 | 0.0029 | 15 | c.251 others(32): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 23/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ULK2_chr17_19765830_19872936 | 19814456 | T | TTTTTTTG others(8): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0156 | 1 | 109 | 0.0092 | 15 | c.109 others(34): Show |
ULK2 | ENSG00000083290.20 | transcript | ENST00000395544.9 | protein_coding | 13/26 | chr17 | TogoVar | |||||||
ULK2_chr17_19765830_19872936 | 19825997 | A | AAATAAAT others(8): Show |
intron_variant | MODIFIER | NA19065.hp1 NA19072.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 a0001c0001t0001g0214 |
2 | 120 | 0.0167 | 15 | c.835 others(30): Show |
ULK2 | ENSG00000083290.20 | transcript | ENST00000395544.9 | protein_coding | 11/26 | chr17 | TogoVar | |||||||
ULK2_chr17_19765830_19872936 | 19826001 | A | AAATAAAT others(8): Show |
intron_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 18 | 0.0556 | 15 | c.835 others(30): Show |
ULK2 | ENSG00000083290.20 | transcript | ENST00000395544.9 | protein_coding | 11/26 | chr17 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41311960 | A | ATTTATTT others(8): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0009 | a0009c0008 | a0009c0008t0002 | a0009c0008t0002g0021 | 1 | 47 | 0.0213 | 15 | c.367 others(36): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 35/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41420475 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0005 | a0005c0013 | a0005c0013t0002 | a0005c0013t0002g0016 | 1 | 10 | 0.1000 | 15 | c.349 others(36): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 34/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41431547 | C | CATTTTTT others(8): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 27 | 0.0370 | 15 | c.349 others(36): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 34/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41431547 | C | CCTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02735.hp1 HG02976.hp2 others(1): Show |
a0002a0007a0014others(1): Show | a0002c0009a0007c0005a0014c0022others(1): Show | a0002c0009t0002a0007c0005t0001a0014c0022t0001others(1): Show | a0002c0009t0002g0018 a0007c0005t0001g0064 a0014c0022t0001g0029 others(1): Show |
4 | 30 | 0.1333 | 15 | c.349 others(36): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 34/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41469602 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0018 | a0018c0021 | a0018c0021t0001 | a0018c0021t0001g0045 | 1 | 26 | 0.0385 | 15 | c.322 others(34): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 32/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41506764 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02615.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0054 a0003c0003t0001g0059 |
2 | 56 | 0.0357 | 15 | c.322 others(36): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 32/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41602251 | A | AAAAGGAA others(8): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02258.hp2 HG03453.hp2 others(1): Show |
a0001a0002a0009 | a0001c0001a0002c0004a0009c0008 | a0001c0001t0001a0002c0004t0002a0009c0008t0002 | a0001c0001t0001g0040 a0002c0004t0002g0017 a0009c0008t0002g0020 others(1): Show |
4 | 14 | 0.2857 | 15 | c.312 others(36): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 31/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41716216 | A | AAATAATA others(8): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0019 | a0019c0017 | a0019c0017t0001 | a0019c0017t0001g0022 | 1 | 11 | 0.0909 | 15 | c.245 others(32): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 23/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41721279 | T | TTTTTTTT others(8): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0020 | a0020c0018 | a0020c0018t0001 | a0020c0018t0001g0050 | 1 | 47 | 0.0213 | 15 | c.232 others(34): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 22/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41735687 | T | TTTATTAT others(8): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01243.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0043 a0001c0001t0003g0070 |
2 | 32 | 0.0625 | 15 | c.232 others(36): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 22/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41794660 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02572.hp1 HG04115.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 a0001c0001t0001g0047 |
2 | 24 | 0.0833 | 15 | c.201 others(34): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 20/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41831531 | A | ATATAGAG others(8): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02258.hp2 HG02572.hp2 others(5): Show |
a0002a0009 | a0002c0004a0002c0009a0009c0008 | a0002c0004t0002a0002c0009t0002a0009c0008t0002 | a0002c0004t0002g0014 a0002c0004t0002g0015 a0002c0004t0002g0017 others(5): Show |
8 | 61 | 0.1311 | 15 | c.176 others(34): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 18/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41831531 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02976.hp1 |
a0008 | a0008c0010 | a0008c0010t0002 | a0008c0010t0002g0004 a0008c0010t0002g0056 |
2 | 55 | 0.0364 | 15 | c.176 others(34): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 18/36 | chr3 | TogoVar | |||||||
UMAD1_chr7_7635752_7884223 | 7673310 | T | TAGCAGCA others(8): Show |
start_lost others(1): Show |
HIGH | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0121 | 1 | 40 | 0.0250 | 15 | c.-15 others(21): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/4 | 134/2232 | 1/414 | 1/137 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||
UMAD1_chr7_7635752_7884223 | 7761363 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01081.hp1 HG01106.hp2 others(30): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0053 a0001c0001t0001g0086 a0001c0001t0001g0103 others(30): Show |
33 | 172 | 0.1919 | 15 | c.83- others(32): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7767128 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01123.hp1 HG01346.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0024a0001c0001t0027others(3): Show | a0001c0001t0001g0211 a0001c0001t0024g0040 a0001c0001t0027g0234 others(3): Show |
6 | 152 | 0.0395 | 15 | c.83- others(32): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7796244 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01884.hp2 HG02080.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(5): Show | a0001c0001t0002g0032 a0001c0001t0002g0067 a0001c0001t0002g0073 others(8): Show |
11 | 36 | 0.3056 | 15 | c.83- others(30): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMODL1_chr21_42066317_42147996 | 42069268 | A | ACACACAC others(8): Show |
upstream_gene_variant | MODIFIER | HG03654.hp1 HG03654.hp2 |
a0001a0096 | a0001c0008a0096c0097 | a0001c0008t0001a0096c0097t0002 | a0001c0008t0001g0191 a0096c0097t0002g0112 |
2 | 395 | 0.0051 | 15 | c.-20 others(26): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 2048 | chr21 | TogoVar | |||||||
UMODL1_chr21_42066317_42147996 | 42094837 | T | TTAAAGAA others(8): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00558.hp1 others(111): Show |
a0003a0005a0006others(40): Show | a0003c0004a0003c0045a0003c0046others(57): Show | a0003c0004t0001a0003c0004t0006a0003c0004t0007others(70): Show | a0003c0004t0001g0143 a0003c0004t0001g0202 a0003c0004t0001g0261 others(109): Show |
114 | 398 | 0.2864 | 15 | c.932 others(32): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 6/22 | chr21 | TogoVar | |||||||
UMODL1_chr21_42066317_42147996 | 42095089 | G | GGTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01123.hp2 HG01978.hp2 others(19): Show |
a0003a0005a0006others(11): Show | a0003c0046a0005c0013a0006c0003others(13): Show | a0003c0046t0001a0003c0046t0007a0005c0013t0001others(15): Show | a0003c0046t0001g0090 a0003c0046t0007g0336 a0005c0013t0001g0006 others(18): Show |
22 | 84 | 0.2619 | 15 | c.932 others(32): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 6/22 | chr21 | TogoVar | |||||||
UMODL1_chr21_42066317_42147996 | 42095089 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01106.hp2 NA18939.hp2 |
a0001a0024a0102 | a0001c0001a0024c0062a0102c0075 | a0001c0001t0004a0024c0062t0004a0102c0075t0007 | a0001c0001t0004g0108 a0024c0062t0004g0124 a0102c0075t0007g0298 |
3 | 65 | 0.0462 | 15 | c.932 others(32): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
UMODL1_chr21_42066317_42147996 | 42133888 | T | TTTTTGTT others(8): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02135.hp1 HG02622.hp2 others(1): Show |
a0002a0005a0025others(1): Show | a0002c0148a0005c0026a0025c0154others(1): Show | a0002c0148t0001a0005c0026t0001a0025c0154t0011others(1): Show | a0002c0148t0001g0366 a0005c0026t0001g0242 a0025c0154t0011g0134 others(1): Show |
4 | 246 | 0.0163 | 15 | c.377 others(34): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
UNC13A_chr19_17596336_17693354 | 17631180 | T | TCCCTCCC others(8): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0022 | a0001c0022t0024 | a0001c0022t0024g0061 | 1 | 223 | 0.0045 | 15 | c.342 others(32): Show |
UNC13A | ENSG00000130477.16 | transcript | ENST00000519716.7 | protein_coding | 28/43 | chr19 | TogoVar | |||||||
UNC13A_chr19_17596336_17693354 | 17631188 | T | TTCCTCCC others(8): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0178 | 1 | 221 | 0.0045 | 15 | c.342 others(32): Show |
UNC13A | ENSG00000130477.16 | transcript | ENST00000519716.7 | protein_coding | 28/43 | chr19 | TogoVar |