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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACADL_chr2_210182923_210230447 | 210214467 | A | AAAAGAAA others(1): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02615.hp2 HG02622.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0049 a0001c0001t0001g0050 others(2): Show |
6 | 27 | 0.2222 | 8 | c.536 others(25): Show |
ACADL | ENSG00000115361.8 | transcript | ENST00000233710.4 | protein_coding | 4/10 | chr2 | TogoVar | |||||||
ACADM_chr1_75719709_75768679 | 75736173 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01109.hp1 HG01168.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(2): Show | a0001c0001t0001g0241 a0001c0001t0002g0123 a0001c0001t0002g0127 others(11): Show |
14 | 28 | 0.5000 | 8 | c.468 others(25): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACADM_chr1_75719709_75768679 | 75737279 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG01168.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0234 others(3): Show |
6 | 106 | 0.0566 | 8 | c.468 others(25): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACAN_chr15_88798436_88880353 | 88807747 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00609.hp2 others(69): Show |
a0001a0002a0003others(28): Show | a0001c0001a0001c0009a0001c0017others(45): Show | a0001c0001t0001a0001c0009t0001a0001c0017t0001others(45): Show | a0001c0001t0001g0013 a0001c0001t0001g0095 a0001c0001t0001g0098 others(69): Show |
72 | 112 | 0.6429 | 8 | c.-8+ others(23): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ACAN_chr15_88798436_88880353 | 88860072 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02055.hp1 HG02451.hp2 others(11): Show |
a0010a0019a0020others(9): Show | a0010c0142a0019c0045a0020c0141others(10): Show | a0010c0142t0001a0019c0045t0001a0019c0045t0008others(11): Show | a0010c0142t0001g0154 a0019c0045t0001g0347 a0019c0045t0008g0294 others(11): Show |
14 | 235 | 0.0596 | 8 | c.683 others(25): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ACAP1_chr17_7331529_7356477 | 7354528 | G | GGTGTGTG others(1): Show |
downstream_gene_variant | MODIFIER | HG01070.hp1 HG01496.hp2 HG02280.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0017 a0001c0001t0001g0147 a0001c0002t0001g0005 others(5): Show |
18 | 254 | 0.0709 | 8 | c.*31 others(19): Show |
ACAP1 | ENSG00000072818.12 | transcript | ENST00000158762.8 | protein_coding | 3052 | chr17 | TogoVar | |||||||
ACAP2_chr3_195269745_195448020 | 195290849 | T | TAAATAAT others(1): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01109.hp1 HG01361.hp2 others(11): Show |
a0001 | a0001c0001a0001c0004a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(5): Show | a0001c0001t0001g0266 a0001c0001t0002g0170 a0001c0001t0002g0179 others(11): Show |
14 | 196 | 0.0714 | 8 | c.206 others(25): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 20/22 | chr3 | TogoVar | |||||||
ACAP2_chr3_195269745_195448020 | 195290849 | T | TAATAAAT others(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01175.hp1 HG02027.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0002a0001c0001t0021a0001c0001t0022others(1): Show | a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0196 others(5): Show |
8 | 190 | 0.0421 | 8 | c.206 others(25): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 20/22 | chr3 | TogoVar | |||||||
ACAP2_chr3_195269745_195448020 | 195310119 | T | TATTTAGA others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(266): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(31): Show | a0001c0001t0001g0007 a0001c0001t0001g0021 a0001c0001t0001g0022 others(266): Show |
269 | 322 | 0.8354 | 8 | c.858 others(25): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 10/22 | chr3 | TogoVar | |||||||
ACAP2_chr3_195269745_195448020 | 195351129 | T | TTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG00609.hp2 others(98): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(7): Show | a0001c0001t0001g0007 a0001c0001t0001g0021 a0001c0001t0001g0022 others(98): Show |
101 | 274 | 0.3686 | 8 | c.286 others(25): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 4/22 | chr3 | TogoVar | |||||||
ACAP2_chr3_195269745_195448020 | 195377138 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01346.hp2 HG01934.hp2 others(11): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0025a0001c0002t0035 | a0001c0002t0004g0004 a0001c0002t0004g0024 a0001c0002t0004g0028 others(11): Show |
14 | 106 | 0.1321 | 8 | c.285 others(25): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 4/22 | chr3 | TogoVar | |||||||
ACAP2_chr3_195269745_195448020 | 195398637 | C | CTAAATAA others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(60): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0022 a0001c0001t0001g0199 a0001c0001t0001g0216 others(60): Show |
63 | 173 | 0.3642 | 8 | c.54- others(23): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1308546 | C | CGGGGGGG others(1): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG00735.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0019 others(16): Show |
21 | 151 | 0.1391 | 8 | c.-73 others(17): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 617 | chr1 | TogoVar | |||||||
ACAT1_chr11_108116567_108152603 | 108131354 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00642.hp2 HG01346.hp1 others(10): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0003t0001a0001c0003t0003others(2): Show | a0001c0001t0001g0081 a0001c0001t0001g0182 a0001c0001t0001g0183 others(10): Show |
13 | 25 | 0.5200 | 8 | c.73- others(21): Show |
ACAT1 | ENSG00000075239.14 | transcript | ENST00000265838.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACAT1_chr11_108116567_108152603 | 108141369 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00673.hp2 HG01168.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0081 others(12): Show |
15 | 160 | 0.0938 | 8 | c.731 others(23): Show |
ACAT1 | ENSG00000075239.14 | transcript | ENST00000265838.9 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACBD3_chr1_226139679_226191741 | 226149529 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG01346.hp1 others(32): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0007 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0054 others(29): Show |
35 | 86 | 0.4070 | 8 | c.137 others(27): Show |
ACBD3 | ENSG00000182827.9 | transcript | ENST00000366812.6 | protein_coding | 7/7 | chr1 | TogoVar | |||||||
ACBD3_chr1_226139679_226191741 | 226161146 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00544.hp2 others(60): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0001a0002c0002t0003 | a0001c0001t0005g0070 a0001c0001t0005g0236 a0001c0001t0005g0237 others(57): Show |
63 | 201 | 0.3134 | 8 | c.728 others(23): Show |
ACBD3 | ENSG00000182827.9 | transcript | ENST00000366812.6 | protein_coding | 4/7 | chr1 | TogoVar | |||||||
ACBD3_chr1_226139679_226191741 | 226178574 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01069.hp1 HG01106.hp2 others(19): Show |
a0002a0005 | a0002c0002a0002c0011a0005c0005 | a0002c0002t0001a0002c0011t0001a0005c0005t0001 | a0002c0002t0001g0002 a0002c0002t0001g0013 a0002c0002t0001g0016 others(18): Show |
22 | 107 | 0.2056 | 8 | c.286 others(25): Show |
ACBD3 | ENSG00000182827.9 | transcript | ENST00000366812.6 | protein_coding | 1/7 | chr1 | TogoVar | |||||||
ACBD5_chr10_27190214_27245797 | 27243112 | A | ACACACGC others(1): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02257.hp2 others(15): Show |
a0001 | a0001c0001a0001c0003a0001c0010 | a0001c0001t0003a0001c0003t0001a0001c0010t0017 | a0001c0001t0003g0309 a0001c0001t0003g0310 a0001c0001t0003g0311 others(15): Show |
18 | 144 | 0.1250 | 8 | c.-24 others(19): Show |
ACBD5 | ENSG00000107897.20 | transcript | ENST00000396271.8 | protein_coding | 2316 | chr10 | TogoVar | |||||||
ACBD5_chr10_27190214_27245797 | 27243112 | A | ACACGCGC others(1): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 HG01884.hp2 HG02572.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0020others(1): Show | a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0003g0322 others(2): Show |
5 | 131 | 0.0382 | 8 | c.-24 others(19): Show |
ACBD5 | ENSG00000107897.20 | transcript | ENST00000396271.8 | protein_coding | 2316 | chr10 | TogoVar | |||||||
ACBD5_chr10_27190214_27245797 | 27243116 | G | GCGCGCGC others(1): Show |
upstream_gene_variant | MODIFIER | HG01099.hp2 HG01243.hp2 HG01884.hp1 others(19): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0003a0001c0005t0002others(1): Show | a0001c0001t0002g0145 a0001c0001t0003g0146 a0001c0001t0003g0147 others(19): Show |
22 | 357 | 0.0616 | 8 | c.-24 others(19): Show |
ACBD5 | ENSG00000107897.20 | transcript | ENST00000396271.8 | protein_coding | 2320 | chr10 | TogoVar | |||||||
ACCSL_chr11_44042981_44064977 | 44064562 | A | ATGTGTGT others(1): Show |
downstream_gene_variant | MODIFIER | HG02723.hp2 HG02922.hp1 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0105 |
3 | 420 | 0.0071 | 8 | c.*46 others(19): Show |
ACCSL | ENSG00000205126.2 | transcript | ENST00000378832.1 | protein_coding | 4586 | chr11 | TogoVar | |||||||
ACCS_chr11_44061270_44089237 | 44064562 | A | ATGTGTGT others(1): Show |
upstream_gene_variant | MODIFIER | HG02723.hp1 HG02922.hp1 HG03041.hp1 |
a0001a0002a0006 | a0001c0001a0002c0004a0006c0007 | a0001c0001t0001a0002c0004t0001a0006c0007t0001 | a0001c0001t0001g0087 a0002c0004t0001g0092 a0006c0007t0001g0091 |
3 | 408 | 0.0074 | 8 | c.-21 others(19): Show |
ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 1707 | chr11 | TogoVar | |||||||
ACE2_chrX_15556033_15605960 | 15562655 | G | GATATATA others(1): Show |
intron_variant | MODIFIER | NA18949.hp1 NA18998.hp2 NA19057.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 a0001c0001t0001g0082 a0001c0001t0001g0092 |
3 | 100 | 0.0300 | 8 | c.231 others(25): Show |
ACE2 | ENSG00000130234.13 | transcript | ENST00000252519.8 | protein_coding | 17/17 | chrX | TogoVar | |||||||
ACE2_chrX_15556033_15605960 | 15593391 | A | AAAGGAAG others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(203): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(113): Show |
206 | 229 | 0.8996 | 8 | c.346 others(25): Show |
ACE2 | ENSG00000130234.13 | transcript | ENST00000252519.8 | protein_coding | 2/17 | chrX | TogoVar | |||||||
ACER1_chr19_6301142_6338612 | 6314872 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01261.hp2 HG02280.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0019 a0001c0001t0001g0070 a0001c0001t0001g0088 others(3): Show |
6 | 239 | 0.0251 | 8 | c.94- others(23): Show |
ACER1 | ENSG00000167769.5 | transcript | ENST00000301452.5 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
ACER1_chr19_6301142_6338612 | 6324860 | A | AAAGGAAG others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00673.hp2 others(50): Show |
a0001a0002a0006 | a0001c0001a0001c0006a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0006t0001others(2): Show | a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0021 others(49): Show |
53 | 128 | 0.4141 | 8 | c.93+ others(23): Show |
ACER1 | ENSG00000167769.5 | transcript | ENST00000301452.5 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
ACER1_chr19_6301142_6338612 | 6324865 | A | AAGGGAGG others(1): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01358.hp2 HG02615.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0030 a0001c0001t0001g0338 a0001c0004t0001g0380 others(3): Show |
6 | 382 | 0.0157 | 8 | c.93+ others(23): Show |
ACER1 | ENSG00000167769.5 | transcript | ENST00000301452.5 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
ACER1_chr19_6301142_6338612 | 6324910 | A | AGGAAGGA others(1): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02559.hp2 HG02630.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0155 a0001c0001t0001g0165 a0001c0001t0001g0177 others(8): Show |
11 | 390 | 0.0282 | 8 | c.93+ others(23): Show |
ACER1 | ENSG00000167769.5 | transcript | ENST00000301452.5 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
ACER1_chr19_6301142_6338612 | 6329356 | T | TAGAATAG others(1): Show |
intron_variant | MODIFIER | HG00733.hp2 HG02451.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0338 a0001c0001t0001g0341 a0001c0001t0001g0346 |
3 | 30 | 0.1000 | 8 | c.93+ others(23): Show |
ACER1 | ENSG00000167769.5 | transcript | ENST00000301452.5 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
ACER3_chr11_76855918_77031797 | 76859890 | T | TTTTATTT others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(104): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(61): Show | a0001c0001t0002g0140 a0001c0001t0002g0174 a0001c0001t0002g0175 others(104): Show |
107 | 141 | 0.7589 | 8 | c.-10 others(19): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 1027 | chr11 | TogoVar | |||||||
ACER3_chr11_76855918_77031797 | 76864596 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00735.hp2 HG00741.hp2 others(25): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0003a0001c0001t0004a0001c0001t0008others(15): Show | a0001c0001t0003g0085 a0001c0001t0003g0096 a0001c0001t0003g0097 others(25): Show |
28 | 134 | 0.2090 | 8 | c.103 others(25): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACER3_chr11_76855918_77031797 | 76868383 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG02280.hp2 HG03654.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0013 | a0001c0001t0002g0179 a0001c0001t0005g0178 a0001c0001t0005g0184 others(1): Show |
4 | 294 | 0.0136 | 8 | c.103 others(25): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACER3_chr11_76855918_77031797 | 76924973 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00597.hp1 HG00738.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(7): Show | a0001c0001t0002g0135 a0001c0001t0002g0147 a0001c0001t0002g0152 others(20): Show |
23 | 30 | 0.7667 | 8 | c.104 others(25): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACER3_chr11_76855918_77031797 | 76933173 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG01516.hp1 HG01517.hp2 HG02717.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0073a0001c0001t0086 | a0001c0001t0017g0196 a0001c0001t0017g0197 a0001c0001t0073g0207 others(1): Show |
4 | 129 | 0.0310 | 8 | c.214 others(25): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACER3_chr11_76855918_77031797 | 76938970 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01884.hp2 HG02145.hp1 others(9): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0035a0001c0003t0026a0001c0003t0027others(6): Show | a0001c0001t0035g0070 a0001c0003t0026g0114 a0001c0003t0026g0120 others(9): Show |
12 | 103 | 0.1165 | 8 | c.214 others(27): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACER3_chr11_76855918_77031797 | 76948211 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02015.hp2 HG02074.hp2 NA18948.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(3): Show | a0001c0001t0002g0131 a0001c0001t0002g0146 a0001c0001t0005g0130 others(7): Show |
10 | 71 | 0.1408 | 8 | c.215 others(27): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACER3_chr11_76855918_77031797 | 77025392 | T | TTATATAT others(1): Show |
3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00733.hp1 HG00735.hp2 others(23): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0013a0001c0001t0014a0001c0001t0028others(12): Show | a0001c0001t0013g0016 a0001c0001t0013g0019 a0001c0001t0013g0136 others(23): Show |
26 | 133 | 0.1955 | 8 | c.*50 others(19): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 11/11 | 5085 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACER3_chr11_76855918_77031797 | 77031780 | C | CTTATTTA others(1): Show |
downstream_gene_variant | MODIFIER | HG00673.hp2 HG01167.hp1 HG01167.hp2 others(18): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(12): Show | a0001c0001t0002g0169 a0001c0001t0002g0173 a0001c0001t0002g0181 others(18): Show |
21 | 113 | 0.1858 | 8 | c.*11 others(21): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 4984 | chr11 | TogoVar | |||||||
ACIN1_chr14_23053564_23100136 | 23064896 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00621.hp2 HG00735.hp2 others(85): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0007a0002c0002others(6): Show | a0001c0001t0001a0001c0007t0001a0002c0002t0001others(6): Show | a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0163 others(70): Show |
88 | 194 | 0.4536 | 8 | c.230 others(25): Show |
ACIN1 | ENSG00000100813.15 | transcript | ENST00000605057.6 | protein_coding | 10/18 | chr14 | TogoVar | |||||||
ACKR2_chr3_42804445_42872286 | 42822165 | T | TATAAATA others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01069.hp2 HG01255.hp1 others(15): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0003a0001c0001t0018a0002c0002t0002others(4): Show | a0001c0001t0003g0208 a0001c0001t0003g0235 a0001c0001t0018g0205 others(14): Show |
18 | 214 | 0.0841 | 8 | c.-38 others(25): Show |
ACKR2 | ENSG00000144648.16 | transcript | ENST00000422265.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ACKR2_chr3_42804445_42872286 | 42828074 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02258.hp1 HG02735.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0002 | a0001c0001t0001g0034 a0001c0001t0003g0107 a0002c0002t0002g0289 others(2): Show |
5 | 201 | 0.0249 | 8 | c.-38 others(25): Show |
ACKR2 | ENSG00000144648.16 | transcript | ENST00000422265.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ACKR2_chr3_42804445_42872286 | 42860164 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG01069.hp1 others(30): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0003a0003c0004t0003 | a0001c0001t0001g0041 a0001c0001t0001g0073 a0001c0001t0001g0098 others(27): Show |
33 | 146 | 0.2260 | 8 | c.-37 others(25): Show |
ACKR2 | ENSG00000144648.16 | transcript | ENST00000422265.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ACKR3_chr2_236564825_236587354 | 236566718 | C | CCCTTCCT others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(58): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(32): Show |
61 | 121 | 0.5041 | 8 | c.-32 others(19): Show |
ACKR3 | ENSG00000144476.6 | transcript | ENST00000272928.4 | protein_coding | 3106 | chr2 | TogoVar | |||||||
ACLY_chr17_41861918_41923951 | 41879647 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01099.hp1 HG01346.hp2 others(14): Show |
a0001 | a0001c0001a0001c0003a0001c0009others(1): Show | a0001c0001t0001a0001c0003t0004a0001c0009t0001others(1): Show | a0001c0001t0001g0017 a0001c0001t0001g0066 a0001c0001t0001g0067 others(14): Show |
17 | 28 | 0.6071 | 8 | c.226 others(25): Show |
ACLY | ENSG00000131473.17 | transcript | ENST00000352035.7 | protein_coding | 20/28 | chr17 | TogoVar | |||||||
ACLY_chr17_41861918_41923951 | 41882367 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00639.hp1 HG00639.hp2 others(50): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0009others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0009t0001others(1): Show | a0001c0001t0001g0016 a0001c0001t0001g0052 a0001c0001t0001g0059 others(50): Show |
53 | 66 | 0.8030 | 8 | c.226 others(25): Show |
ACLY | ENSG00000131473.17 | transcript | ENST00000352035.7 | protein_coding | 20/28 | chr17 | TogoVar | |||||||
ACLY_chr17_41861918_41923951 | 41889524 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00673.hp2 others(45): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0014others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0003others(3): Show | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0019 others(45): Show |
48 | 56 | 0.8571 | 8 | c.177 others(27): Show |
ACLY | ENSG00000131473.17 | transcript | ENST00000352035.7 | protein_coding | 16/28 | chr17 | TogoVar | |||||||
ACMSD_chr2_134833616_134907034 | 134834771 | G | GGGAAGGA others(1): Show |
upstream_gene_variant | MODIFIER | HG02630.hp1 HG02970.hp1 HG03195.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 a0001c0001t0001g0204 a0001c0001t0001g0325 others(1): Show |
4 | 316 | 0.0127 | 8 | c.-39 others(19): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 3844 | chr2 | TogoVar | |||||||
ACMSD_chr2_134833616_134907034 | 134834775 | G | GGGAAGGA others(1): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG01496.hp2 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0024 others(32): Show |
36 | 142 | 0.2535 | 8 | c.-39 others(19): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 3840 | chr2 | TogoVar | |||||||
ACMSD_chr2_134833616_134907034 | 134834807 | A | AGGAAGGA others(1): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 HG01123.hp1 HG01123.hp2 others(12): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0013 others(12): Show |
15 | 300 | 0.0500 | 8 | c.-38 others(19): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 3808 | chr2 | TogoVar |