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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACOX1_chr17_75936507_75984166 | 75956965 | CTCTCTCT others(15): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00673.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001a0002c0002t0006 | a0001c0001t0002g0101 a0002c0002t0001g0178 a0002c0002t0001g0214 others(2): Show |
5 | 319 | 0.0157 | -22 | c.538 others(37): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 4/13 | chr17 | TogoVar | |||||||
ACOX1_chr17_75936507_75984166 | 75956967 | CTCTCTAT others(15): Show |
C | intron_variant | MODIFIER | HG01261.hp2 NA18970.hp2 NA18975.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0006a0002c0002t0061others(1): Show | a0002c0002t0001g0201 a0002c0002t0001g0237 a0002c0002t0001g0287 others(3): Show |
6 | 313 | 0.0192 | -22 | c.538 others(37): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 4/13 | chr17 | TogoVar | |||||||
ACOX1_chr17_75936507_75984166 | 75956969 | CTCTATAT others(15): Show |
C | intron_variant | MODIFIER | NA18966.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 308 | 0.0032 | -22 | c.538 others(37): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 4/13 | chr17 | TogoVar | |||||||
ACOX2_chr3_58500136_58542190 | 58510691 | TATATATA others(15): Show |
T | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0101 | 1 | 305 | 0.0033 | -22 | c.185 others(41): Show |
ACOX2 | ENSG00000168306.13 | transcript | ENST00000302819.10 | protein_coding | 13/14 | chr3 | TogoVar | |||||||
ACOX2_chr3_58500136_58542190 | 58510693 | TATATATA others(15): Show |
T | intron_variant | MODIFIER | HG00609.hp1 HG01109.hp1 HG01258.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0002others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0017 others(9): Show |
15 | 325 | 0.0462 | -22 | c.185 others(41): Show |
ACOX2 | ENSG00000168306.13 | transcript | ENST00000302819.10 | protein_coding | 13/14 | chr3 | TogoVar | |||||||
ACOX2_chr3_58500136_58542190 | 58510695 | TATATATA others(15): Show |
T | intron_variant | MODIFIER | HG00597.hp2 HG01074.hp1 HG01081.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(17): Show |
26 | 355 | 0.0732 | -22 | c.185 others(41): Show |
ACOX2 | ENSG00000168306.13 | transcript | ENST00000302819.10 | protein_coding | 13/14 | chr3 | TogoVar | |||||||
ACOX2_chr3_58500136_58542190 | 58510701 | TATATATA others(15): Show |
T | intron_variant | MODIFIER | HG02071.hp2 NA18957.hp2 NA18972.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0015 a0001c0001t0001g0213 a0001c0002t0001g0027 others(2): Show |
7 | 361 | 0.0194 | -22 | c.185 others(41): Show |
ACOX2 | ENSG00000168306.13 | transcript | ENST00000302819.10 | protein_coding | 13/14 | chr3 | TogoVar | |||||||
ACOX2_chr3_58500136_58542190 | 58510703 | TATATATA others(15): Show |
T | intron_variant | MODIFIER | HG02615.hp2 HG02886.hp1 HG03516.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004 | a0001c0002t0001g0025 a0001c0002t0001g0086 a0001c0002t0001g0226 others(1): Show |
4 | 362 | 0.0110 | -22 | c.185 others(41): Show |
ACOX2 | ENSG00000168306.13 | transcript | ENST00000302819.10 | protein_coding | 13/14 | chr3 | TogoVar | |||||||
ACOXL_chr2_110727573_111123548 | 110767923 | AACACACA others(15): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00673.hp1 others(3): Show |
a0002a0003a0005 | a0002c0002a0003c0004a0005c0007 | a0002c0002t0003a0002c0002t0004a0003c0004t0003others(2): Show | a0002c0002t0003g0139 a0002c0002t0003g0141 a0002c0002t0004g0142 others(3): Show |
6 | 21 | 0.2857 | -22 | c.-22 others(37): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACSBG1_chr15_78162468_78239565 | 78238996 | CCCAAGAT others(15): Show |
C | upstream_gene_variant | MODIFIER | HG02015.hp1 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0148 | 1 | 348 | 0.0029 | -22 | c.-45 others(33): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 4432 | chr15 | TogoVar | |||||||
ACSF3_chr16_89088852_89161233 | 89147038 | AGGAAGCG others(15): Show |
A | intron_variant | MODIFIER | NA19068.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0100 | 1 | 366 | 0.0027 | -22 | c.161 others(40): Show |
ACSF3 | ENSG00000176715.17 | transcript | ENST00000614302.5 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
ACSM1_chr16_20618235_20702680 | 20627869 | CATATATA others(15): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00609.hp2 HG00738.hp1 others(19): Show |
a0001a0007 | a0001c0002a0001c0003a0001c0016others(1): Show | a0001c0002t0001a0001c0003t0001a0001c0016t0001others(1): Show | a0001c0002t0001g0003 a0001c0002t0001g0010 a0001c0002t0001g0011 others(19): Show |
22 | 87 | 0.2529 | -22 | c.130 others(39): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 10/13 | chr16 | TogoVar | |||||||
ACSM1_chr16_20618235_20702680 | 20685825 | AAAAAAAC others(15): Show |
A | intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0236 | 1 | 316 | 0.0032 | -22 | c.193 others(37): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 2/13 | chr16 | TogoVar | |||||||
ACSS3_chr12_81073079_81266210 | 81107511 | CATATATA others(15): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02257.hp2 HG02486.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0028a0002c0003t0005 | a0001c0001t0028g0038 a0002c0003t0005g0152 a0002c0003t0005g0153 others(4): Show |
7 | 87 | 0.0805 | -22 | c.312 others(39): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACTA1_chr1_229426245_229439094 | 229435461 | CCTCTCTC others(15): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(50): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 others(3): Show |
53 | 135 | 0.3926 | -22 | c.-14 others(33): Show |
ACTA1 | ENSG00000143632.15 | transcript | ENST00000366684.7 | protein_coding | 1368 | chr1 | TogoVar | |||||||
ACTB_chr7_5522148_5535601 | 5530469 | GGCCGCCT others(15): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(115): Show |
a0001 | a0001c0001a0001c0004a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0010 a0001c0001t0001g0071 a0001c0001t0001g0075 others(28): Show |
118 | 368 | 0.3207 | -22 | c.-7+ others(33): Show |
ACTB | ENSG00000075624.17 | transcript | ENST00000646664.1 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
ACTG2_chr2_73888008_73924865 | 73901532 | ATGTGTGT others(15): Show |
A | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0392 | 1 | 285 | 0.0035 | -22 | c.126 others(37): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73902019 | GTGTGTGT others(15): Show |
G | intron_variant | MODIFIER | HG02451.hp1 HG02970.hp2 HG03130.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(1): Show | a0001c0001t0003g0231 a0001c0001t0005g0032 a0001c0001t0007g0036 others(2): Show |
5 | 414 | 0.0121 | -22 | c.127 others(37): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73904765 | GTGTGTGT others(15): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG01168.hp2 NA18941.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0009 a0001c0001t0001g0185 a0001c0001t0001g0188 others(10): Show |
14 | 409 | 0.0342 | -22 | c.255 others(39): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73904767 | GTGTGTGT others(15): Show |
G | intron_variant | MODIFIER | HG01257.hp1 HG01257.hp2 HG01258.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0002 | a0001c0001t0001g0008 a0001c0001t0001g0094 a0001c0001t0001g0292 others(2): Show |
6 | 276 | 0.0217 | -22 | c.255 others(39): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73904769 | GTGTGTGT others(15): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02895.hp1 HG02897.hp2 others(2): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0001a0001c0003t0004 | a0001c0002t0002g0005 a0001c0002t0002g0033 a0001c0003t0001g0392 others(1): Show |
5 | 394 | 0.0127 | -22 | c.255 others(39): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73904773 | GTGTGTAT others(15): Show |
G | intron_variant | MODIFIER | HG02280.hp2 HG03486.hp2 NA18522.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0224 a0001c0001t0004g0003 a0001c0001t0004g0027 |
4 | 403 | 0.0099 | -22 | c.255 others(39): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73904777 | GTATATAT others(15): Show |
G | intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0183 | 1 | 259 | 0.0039 | -22 | c.255 others(39): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTL8_chr1_17750333_17832063 | 17776969 | ATTTTTTT others(15): Show |
A | intron_variant | MODIFIER | HG03669.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0179 | 1 | 48 | 0.0208 | -22 | c.-25 others(41): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTMAP_chr19_40735861_40755477 | 40755263 | TTTTTTTT others(15): Show |
T | upstream_gene_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 423 | 0.0024 | -22 | c.-54 others(33): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 4787 | chr19 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236689300 | GATATATA others(15): Show |
G | intron_variant | MODIFIER | HG00609.hp1 HG00741.hp1 HG01106.hp2 others(30): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 others(30): Show |
33 | 181 | 0.1823 | -22 | c.126 others(39): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236689318 | TATATATA others(15): Show |
T | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0121 | 1 | 342 | 0.0029 | -22 | c.126 others(39): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38673456 | CATATATA others(15): Show |
C | intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 300 | 0.0033 | -22 | c.162 others(41): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38691869 | CTCCAACC others(15): Show |
C | intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0162 | 1 | 312 | 0.0032 | -22 | c.163 others(39): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38712949 | CTGGCCCC others(15): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00733.hp1 HG00738.hp1 others(21): Show |
a0001 | a0001c0004a0001c0006 | a0001c0004t0001a0001c0004t0005a0001c0004t0029others(3): Show | a0001c0004t0001g0229 a0001c0004t0001g0234 a0001c0004t0001g0235 others(21): Show |
24 | 312 | 0.0769 | -22 | c.820 others(39): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38736454 | ACCCCCAG others(15): Show |
A | downstream_gene_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0266 | 1 | 310 | 0.0032 | -22 | c.*70 others(33): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4866 | chr19 | TogoVar | |||||||
ACTR1B_chr2_97650939_97669044 | 97665725 | CTCTCTCT others(15): Show |
C | upstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0031 | 1 | 376 | 0.0027 | -22 | c.-18 others(33): Show |
ACTR1B | ENSG00000115073.8 | transcript | ENST00000289228.7 | protein_coding | 1682 | chr2 | TogoVar | |||||||
ACTR1B_chr2_97650939_97669044 | 97665727 | CTCTCTCT others(15): Show |
C | upstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0054 | 1 | 363 | 0.0028 | -22 | c.-18 others(33): Show |
ACTR1B | ENSG00000115073.8 | transcript | ENST00000289228.7 | protein_coding | 1684 | chr2 | TogoVar | |||||||
ACTR1B_chr2_97650939_97669044 | 97665731 | CTCTCTCT others(15): Show |
C | upstream_gene_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0006 | 1 | 363 | 0.0028 | -22 | c.-18 others(33): Show |
ACTR1B | ENSG00000115073.8 | transcript | ENST00000289228.7 | protein_coding | 1688 | chr2 | TogoVar | |||||||
ACTR3B_chr7_152754752_152860378 | 152778943 | CAAAAAAA others(15): Show |
C | intron_variant | MODIFIER | HG01952.hp1 HG02145.hp1 HG02622.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 others(1): Show |
4 | 8 | 0.5000 | -22 | c.45- others(37): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ACVR1B_chr12_51946699_52002078 | 51993765 | TAAAAAAA others(15): Show |
T | intron_variant | MODIFIER | HG01081.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0029 | a0001c0001t0010g0070 a0001c0001t0029g0269 |
2 | 26 | 0.0769 | -22 | c.139 others(39): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACVR1B_chr12_51946699_52002078 | 51993784 | AAAAAAAA others(15): Show |
A | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0121 | 1 | 322 | 0.0031 | -22 | c.139 others(39): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACVR2A_chr2_147840029_147935822 | 147881621 | GTGTGTGT others(15): Show |
G | intron_variant | MODIFIER | HG02109.hp1 NA18948.hp2 NA18974.hp2 others(1): Show |
a0001a0003 | a0001c0002a0003c0006 | a0001c0002t0001a0001c0002t0009a0003c0006t0008 | a0001c0002t0001g0064 a0001c0002t0001g0110 a0001c0002t0009g0172 others(1): Show |
4 | 336 | 0.0119 | -22 | c.56- others(39): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACVR2B_chr3_38448890_38498142 | 38492731 | TACACACA others(15): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01981.hp2 HG02622.hp1 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0103a0001c0001t0159a0001c0001t0172 | a0001c0001t0103g0009 a0001c0001t0159g0021 a0001c0001t0172g0020 |
3 | 138 | 0.0217 | -22 | c.*94 others(33): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 9451 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACVR2B_chr3_38448890_38498142 | 38492783 | CACACACA others(15): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 NA18955.hp1 NA18966.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0042 | a0001c0001t0002g0094 a0001c0001t0009g0012 a0001c0001t0042g0072 |
5 | 408 | 0.0123 | -22 | c.*94 others(33): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 9456 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54038673 | CTATATAT others(15): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG02155.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0024 |
3 | 46 | 0.0652 | -22 | c.63- others(39): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54201614 | TTCTTTCT others(15): Show |
T | intron_variant | MODIFIER | HG02818.hp1 HG02965.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0268 a0001c0002t0002g0059 |
2 | 240 | 0.0083 | -22 | c.404 others(41): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54202706 | CTTTTTTT others(15): Show |
C | intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 20 | 0.0500 | -22 | c.404 others(41): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54256264 | TTCAGTCT others(15): Show |
T | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0060 | 1 | 270 | 0.0037 | -22 | c.405 others(41): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ADA2_chr22_17173790_17224435 | 17222472 | GTGTGTAT others(15): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(19): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0004a0001c0001t0008a0001c0001t0009others(10): Show | a0001c0001t0004g0369 a0001c0001t0008g0352 a0001c0001t0009g0031 others(19): Show |
22 | 125 | 0.1760 | -22 | c.-31 others(33): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 3038 | chr22 | TogoVar | |||||||
ADAD1_chr4_122374011_122434784 | 122378285 | CAAAAAAA others(15): Show |
C | upstream_gene_variant | MODIFIER | HG01515.hp2 HG01884.hp2 HG02055.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0198 a0001c0001t0001g0285 a0001c0002t0001g0003 others(9): Show |
13 | 17 | 0.7647 | -22 | c.-91 others(31): Show |
ADAD1 | ENSG00000164113.11 | transcript | ENST00000296513.7 | protein_coding | 725 | chr4 | TogoVar | |||||||
ADAM10_chr15_58583809_58754707 | 58593149 | ATTTTTTT others(15): Show |
A | 3_prime_UTR_variant | MODIFIER | NA18612.hp2 NA18966.hp1 |
a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0027 a0001c0001t0042g0037 |
2 | 6 | 0.3333 | -22 | c.*43 others(33): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 16/16 | 4376 | chr15 | TogoVar | ||||||
ADAM10_chr15_58583809_58754707 | 58685545 | AATATATA others(15): Show |
A | intron_variant | MODIFIER | NA18950.hp1 NA19060.hp1 NA19089.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0044 | a0001c0001t0001g0078 a0001c0001t0001g0340 a0001c0001t0044g0067 |
3 | 18 | 0.1667 | -22 | c.207 others(39): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 2/15 | chr15 | TogoVar | |||||||
ADAM12_chr10_126007391_126393477 | 126086666 | AAAAAAAA others(15): Show |
A | intron_variant | MODIFIER | HG02922.hp1 NA19084.hp1 |
a0001a0002 | a0001c0004a0002c0006 | a0001c0004t0020a0002c0006t0006 | a0001c0004t0020g0017 a0002c0006t0006g0163 |
2 | 249 | 0.0080 | -22 | c.114 others(41): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 11/22 | chr10 | TogoVar | |||||||
ADAM12_chr10_126007391_126393477 | 126086668 | AAAAAAAA others(15): Show |
A | intron_variant | MODIFIER | HG01192.hp1 HG02486.hp1 HG02559.hp1 others(1): Show |
a0001 | a0001c0002a0001c0003a0001c0037 | a0001c0002t0009a0001c0003t0003a0001c0003t0004others(1): Show | a0001c0002t0009g0013 a0001c0003t0003g0211 a0001c0003t0004g0124 others(1): Show |
4 | 248 | 0.0161 | -22 | c.114 others(41): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 11/22 | chr10 | TogoVar |