| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UNC13B_chr9_35157009_35410335 | 35257308 | AATATAAA others(64): Show |
A | intron_variant | MODIFIER | HG02738.hp2 HG03688.hp2 HG03834.hp1 |
a0014a0033 | a0014c0014a0033c0021 | a0014c0014t0004a0033c0021t0001 | a0014c0014t0004g0018a0014c0014t0004g0019a0033c0021t0001g0020 | 3 | 224 | 0.0134 | -71 | c.469 others(88): Show |
UNC13B | ENSG00000198722.15 | transcript | ENST00000635942.2 | protein_coding | 6/39 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| UNC5A_chr5_176805559_176885898 | 176871868 | TCGCCCAA others(64): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02280.hp2 HG02970.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0008others(1): Show | a0001c0001t0003g0009a0001c0001t0003g0011a0001c0001t0003g0049others(7): Show | 10 | 268 | 0.0373 | -71 | c.886 others(88): Show |
UNC5A | ENSG00000113763.12 | transcript | ENST00000329542.9 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| UNG_chr12_109092597_109115992 | 109106788 | ACTTGGGA others(64): Show |
A | intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 452 | 0.0022 | -71 | c.802 others(88): Show |
UNG | ENSG00000076248.12 | transcript | ENST00000242576.7 | protein_coding | 6/6 | chr12 | TogoVar | ||||||
| VEZT_chr12_95212807_95307799 | 95259115 | GTCTTCAT others(64): Show |
G | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0237 | 1 | 426 | 0.0024 | -71 | c.258 others(88): Show |
VEZT | ENSG00000028203.19 | transcript | ENST00000436874.6 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| VIPR2_chr7_159023175_159149867 | 159129139 | TGGGGGGG others(64): Show |
T | intron_variant | MODIFIER | HG01952.hp1 HG02922.hp1 HG02970.hp1 others(2): Show |
a0001 | a0001c0005a0001c0009 | a0001c0005t0008a0001c0009t0042 | a0001c0005t0008g0006a0001c0005t0008g0312a0001c0005t0008g0313others(2): Show | 5 | 336 | 0.0149 | -71 | c.151 others(90): Show |
VIPR2 | ENSG00000106018.14 | transcript | ENST00000262178.7 | protein_coding | 2/12 | chr7 | TogoVar | ||||||
| VPS13D_chr1_12225030_12517047 | 12440784 | GACAATCA others(64): Show |
G | intron_variant | MODIFIER | HG01106.hp1 HG03098.hp2 HG03516.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0022a0001c0002t0022a0001c0002t0040 | a0001c0001t0022g0069a0001c0002t0022g0057a0001c0002t0040g0047 | 3 | 154 | 0.0195 | -71 | c.123 others(94): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| VPS53_chr17_503668_719839 | 595802 | ATTTGATG others(64): Show |
A | intron_variant | MODIFIER | HG02818.hp2 HG02895.hp1 HG03225.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0032a0001c0001t0095a0001c0001t0096others(1): Show | a0001c0001t0032g0114a0001c0001t0095g0145a0001c0001t0096g0146others(1): Show | 4 | 232 | 0.0172 | -71 | c.121 others(90): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 12/21 | chr17 | TogoVar | ||||||
| WDR45B_chr17_82609562_82653444 | 82614235 | CCCCGTCC others(64): Show |
C | downstream_gene_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0283 | 1 | 382 | 0.0026 | -71 | c.*16 others(82): Show |
WDR45B | ENSG00000141580.16 | transcript | ENST00000392325.9 | protein_coding | 326 | chr17 | TogoVar | ||||||
| WNT7B_chr22_45915366_45982162 | 45916151 | ACGCAGGT others(64): Show |
A | downstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0002 | a0001c0002t0018 | a0001c0002t0018g0157 | 1 | 350 | 0.0029 | -71 | c.*66 others(82): Show |
WNT7B | ENSG00000188064.10 | transcript | ENST00000339464.9 | protein_coding | 4214 | chr22 | TogoVar | ||||||
| WNT7B_chr22_45915366_45982162 | 45916210 | CGGGGATG others(64): Show |
C | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00558.hp2 others(77): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(27): Show | a0001c0001t0001g0152a0001c0001t0001g0154a0001c0001t0001g0182others(77): Show | 80 | 350 | 0.2286 | -71 | c.*65 others(82): Show |
WNT7B | ENSG00000188064.10 | transcript | ENST00000339464.9 | protein_coding | 4155 | chr22 | TogoVar | ||||||
| XPNPEP2_chrX_129733979_129774536 | 129742269 | CCCGCCCT others(64): Show |
C | intron_variant | MODIFIER | HG02523.hp2 NA18999.hp1 NA19010.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0093a0001c0001t0002g0134a0001c0001t0002g0135 | 3 | 310 | 0.0097 | -71 | c.123 others(85): Show |
XPNPEP2 | ENSG00000122121.12 | transcript | ENST00000371106.4 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| YME1L1_chr10_27105111_27159384 | 27106824 | CATATATA others(64): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp2 |
a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0264a0001c0002t0013g0265 | 2 | 388 | 0.0052 | -71 | c.*50 others(82): Show |
YME1L1 | ENSG00000136758.20 | transcript | ENST00000376016.8 | protein_coding | 3286 | chr10 | TogoVar | ||||||
| ZBTB20_chr3_114309500_115152288 | 114531022 | TACTACTT others(64): Show |
T | intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 88 | 0.0114 | -71 | c.-29 others(92): Show |
ZBTB20 | ENSG00000181722.18 | transcript | ENST00000675478.1 | protein_coding | 6/11 | chr3 | TogoVar | ||||||
| ZDHHC2_chr8_17151482_17229799 | 17199581 | TCTTCTTC others(64): Show |
T | intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0352 | 1 | 390 | 0.0026 | -71 | c.476 others(88): Show |
ZDHHC2 | ENSG00000104219.13 | transcript | ENST00000262096.13 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| ZFAND3_chr6_37814727_38159624 | 38041725 | TCCTCCTC others(64): Show |
T | intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 318 | 0.0031 | -71 | c.113 others(90): Show |
ZFAND3 | ENSG00000156639.12 | transcript | ENST00000287218.9 | protein_coding | 2/5 | chr6 | TogoVar | ||||||
| ZMAT4_chr8_40525590_40902826 | 40601634 | GAGAAAGA others(64): Show |
G | intron_variant | MODIFIER | HG01074.hp1 HG03831.hp1 HG03831.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0002 | a0001c0001t0001g0023a0001c0001t0001g0151a0001c0001t0002g0049others(1): Show | 4 | 228 | 0.0175 | -71 | c.578 others(90): Show |
ZMAT4 | ENSG00000165061.15 | transcript | ENST00000297737.11 | protein_coding | 5/6 | chr8 | TogoVar | ||||||
| ZNF16_chr8_144925358_144955880 | 144947070 | GTACCCTA others(64): Show |
G | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 404 | 0.0025 | -71 | c.-9- others(84): Show |
ZNF16 | ENSG00000170631.15 | transcript | ENST00000394909.7 | protein_coding | 1/2 | chr8 | TogoVar | ||||||
| ZNF407_chr18_74592870_75070671 | 74915890 | CATTGGTT others(64): Show |
C | intron_variant | MODIFIER | HG03471.hp2 | a0004 | a0004c0008 | a0004c0008t0002 | a0004c0008t0002g0019 | 1 | 92 | 0.0109 | -71 | c.525 others(90): Show |
ZNF407 | ENSG00000215421.10 | transcript | ENST00000299687.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| ZNF407_chr18_74592870_75070671 | 74916286 | TGTGCATG others(64): Show |
T | intron_variant | MODIFIER | HG02615.hp1 | a0002 | a0002c0019 | a0002c0019t0004 | a0002c0019t0004g0030 | 1 | 92 | 0.0109 | -71 | c.525 others(90): Show |
ZNF407 | ENSG00000215421.10 | transcript | ENST00000299687.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| ZNF440_chr19_11809273_11840216 | 11811897 | AAAGAAAG others(64): Show |
A | upstream_gene_variant | MODIFIER | HG00639.hp1 HG02615.hp2 HG02723.hp1 |
a0003 | a0003c0003a0003c0006 | a0003c0003t0003a0003c0006t0003 | a0003c0003t0003g0017a0003c0003t0003g0098a0003c0006t0003g0031 | 3 | 376 | 0.0080 | -71 | c.-25 others(82): Show |
ZNF440 | ENSG00000171295.13 | transcript | ENST00000304060.10 | protein_coding | 2375 | chr19 | TogoVar | ||||||
| ZNF469_chr16_88377959_88445753 | 88398353 | AGCCACGG others(64): Show |
A | intron_variant | MODIFIER | HG02083.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0071 | 1 | 354 | 0.0028 | -71 | c.-19 others(92): Show |
ZNF469 | ENSG00000225614.4 | transcript | ENST00000565624.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| ZNF491_chr19_11793523_11813503 | 11811897 | AAAGAAAG others(64): Show |
A | downstream_gene_variant | MODIFIER | HG00639.hp2 HG01952.hp1 HG02615.hp2 others(1): Show |
a0001a0006 | a0001c0001a0006c0011 | a0001c0001t0003a0001c0001t0014a0006c0011t0002 | a0001c0001t0003g0003a0001c0001t0003g0004a0001c0001t0014g0003others(1): Show | 4 | 390 | 0.0103 | -71 | c.*46 others(82): Show |
ZNF491 | ENSG00000177599.13 | transcript | ENST00000323169.10 | protein_coding | 3395 | chr19 | TogoVar | ||||||
| ZNF514_chr2_95140000_95164848 | 95159622 | ACCCCGCG others(64): Show |
A | 5_prime_UTR_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0097 | 1 | 366 | 0.0027 | -71 | c.-54 others(80): Show |
ZNF514 | ENSG00000144026.14 | transcript | ENST00000295208.7 | protein_coding | 1/5 | 6370 | chr2 | TogoVar | |||||
| ZNF605_chr12_132913306_132961306 | 132949904 | GACTCTTT others(64): Show |
G | intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 | 1 | 126 | 0.0079 | -71 | c.-28 others(90): Show |
ZNF605 | ENSG00000196458.11 | transcript | ENST00000360187.9 | protein_coding | 1/4 | chr12 | TogoVar | ||||||
| ZNF705A_chr12_8152015_8185046 | 8153931 | ATAAAAAC others(64): Show |
A | upstream_gene_variant | MODIFIER | HG02976.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0023 | 1 | 420 | 0.0024 | -71 | c.-32 others(82): Show |
ZNF705A | ENSG00000196946.11 | transcript | ENST00000396570.8 | protein_coding | 3083 | chr12 | TogoVar | ||||||
| ZNF772_chr19_57464586_57482566 | 57482410 | GCCTCTGC others(64): Show |
G | upstream_gene_variant | MODIFIER | HG02109.hp1 HG02818.hp1 |
a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0007 | 2 | 394 | 0.0051 | -71 | c.-51 others(82): Show |
ZNF772 | ENSG00000197128.13 | transcript | ENST00000356584.8 | protein_coding | 4845 | chr19 | TogoVar | ||||||
| ZP4_chr1_237877404_237895922 | 237883667 | GGGAGGGC others(64): Show |
G | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208a0001c0001t0001g0223 | 2 | 448 | 0.0045 | -71 | c.139 others(88): Show |
ZP4 | ENSG00000116996.10 | transcript | ENST00000366570.5 | protein_coding | 10/11 | chr1 | TogoVar | ||||||
| AARSD1_chr17_42945526_42969454 | 42967115 | TATATATA others(63): Show |
T | upstream_gene_variant | MODIFIER | HG03225.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0050 | 1 | 324 | 0.0031 | -70 | c.-27 others(81): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2662 | chr17 | TogoVar | ||||||
| AATK_chr17_81112295_81171221 | 81140697 | AGCTGTGG others(63): Show |
A | intron_variant | MODIFIER | HG01255.hp2 HG02809.hp1 HG02895.hp1 |
a0012a0015 | a0012c0016a0015c0022 | a0012c0016t0001a0015c0022t0012 | a0012c0016t0001g0184a0015c0022t0012g0246a0015c0022t0012g0266 | 3 | 368 | 0.0082 | -70 | c.56- others(85): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | ||||||
| AATK_chr17_81112295_81171221 | 81156108 | ATGTATGT others(63): Show |
A | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG02055.hp1 others(9): Show |
a0001a0005a0006others(3): Show | a0001c0001a0001c0004a0005c0021others(4): Show | a0001c0001t0001a0001c0004t0002a0005c0021t0001others(4): Show | a0001c0001t0001g0166a0001c0001t0001g0338a0001c0001t0001g0339others(7): Show | 12 | 368 | 0.0326 | -70 | c.55+ others(85): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | ||||||
| ABCA1_chr9_104776006_104933155 | 104862661 | GGCCGGGC others(63): Show |
G | intron_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0046 | a0002c0046t0002 | a0002c0046t0002g0154 | 1 | 318 | 0.0031 | -70 | c.422 others(85): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | ||||||
| ABCC2_chr10_99777640_99857594 | 99814144 | CACATGTA others(63): Show |
C | intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 336 | 0.0030 | -70 | c.209 others(89): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 16/31 | chr10 | TogoVar | ||||||
| ACACB_chr12_109111587_109273226 | 109210206 | TGTATATA others(63): Show |
T | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0106 | a0001c0106t0001 | a0001c0106t0001g0293 | 1 | 308 | 0.0033 | -70 | c.324 others(87): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | chr12 | TogoVar | ||||||
| ACAP3_chr1_1287391_1312930 | 1288295 | CCGTGTCT others(63): Show |
C | downstream_gene_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0111 | 1 | 295 | 0.0034 | -70 | c.*51 others(81): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 4095 | chr1 | TogoVar | ||||||
| ACAP3_chr1_1287391_1312930 | 1289491 | CCGTGTCT others(63): Show |
C | downstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 295 | 0.0034 | -70 | c.*40 others(81): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2899 | chr1 | TogoVar | ||||||
| ACAP3_chr1_1287391_1312930 | 1289509 | CCCCGTGT others(63): Show |
C | downstream_gene_variant | MODIFIER | HG03453.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 2 | 295 | 0.0068 | -70 | c.*39 others(81): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2881 | chr1 | TogoVar | ||||||
| ACAP3_chr1_1287391_1312930 | 1289948 | CCGTGTCT others(63): Show |
C | downstream_gene_variant | MODIFIER | HG00438.hp1 NA18971.hp1 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0014a0001c0001t0002g0011a0001c0001t0002g0125 | 3 | 295 | 0.0102 | -70 | c.*35 others(81): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2442 | chr1 | TogoVar | ||||||
| ACAP3_chr1_1287391_1312930 | 1289966 | CCCCGTGT others(63): Show |
C | downstream_gene_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 295 | 0.0034 | -70 | c.*35 others(81): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2424 | chr1 | TogoVar | ||||||
| ACAP3_chr1_1287391_1312930 | 1289975 | TGCTCCGT others(63): Show |
T | downstream_gene_variant | MODIFIER | NA18964.hp1 NA18964.hp2 NA19067.hp1 others(1): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0018 | a0001c0001t0002a0001c0002t0001a0005c0018t0006 | a0001c0001t0002g0120a0001c0002t0001g0079a0001c0002t0001g0080others(1): Show | 4 | 295 | 0.0136 | -70 | c.*35 others(81): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2415 | chr1 | TogoVar | ||||||
| ACOT7_chr1_6259272_6398767 | 6393040 | GCCGGCTG others(63): Show |
G | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0146 | 1 | 240 | 0.0042 | -70 | c.143 others(85): Show |
ACOT7 | ENSG00000097021.21 | transcript | ENST00000361521.9 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
| ACYP2_chr2_53966113_54310300 | 54197935 | ATGTATTA others(63): Show |
A | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0108 | 1 | 272 | 0.0037 | -70 | c.404 others(89): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ADAM19_chr5_157472304_157580775 | 157563135 | GCTGCACT others(63): Show |
G | intron_variant | MODIFIER | HG02258.hp1 | a0011 | a0011c0016 | a0011c0016t0003 | a0011c0016t0003g0301 | 1 | 310 | 0.0032 | -70 | c.251 others(87): Show |
ADAM19 | ENSG00000135074.16 | transcript | ENST00000257527.9 | protein_coding | 3/22 | chr5 | TogoVar | ||||||
| ADAM8_chr10_133257423_133281868 | 133281064 | GCAGCACT others(63): Show |
G | upstream_gene_variant | MODIFIER | HG00735.hp2 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0020 | 1 | 386 | 0.0026 | -70 | c.-43 others(81): Show |
ADAM8 | ENSG00000151651.16 | transcript | ENST00000445355.8 | protein_coding | 4197 | chr10 | TogoVar | ||||||
| ADAM9_chr8_38991973_39110261 | 39045124 | GTGCATAC others(63): Show |
G | intron_variant | MODIFIER | HG00673.hp1 HG01109.hp1 HG01496.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027a0001c0001t0001g0028a0001c0001t0001g0029others(24): Show | 27 | 332 | 0.0813 | -70 | c.130 others(89): Show |
ADAM9 | ENSG00000168615.13 | transcript | ENST00000487273.7 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| ADAMTS15_chr11_130443645_130481645 | 130470119 | CATATATA others(63): Show |
C | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0342 | 1 | 398 | 0.0025 | -70 | c.172 others(87): Show |
ADAMTS15 | ENSG00000166106.4 | transcript | ENST00000299164.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| ADAMTS18_chr16_77277128_77440034 | 77334387 | ATATATAT others(63): Show |
A | intron_variant | MODIFIER | HG03486.hp1 | a0004 | a0004c0003 | a0004c0003t0005 | a0004c0003t0005g0152 | 1 | 326 | 0.0031 | -70 | c.185 others(89): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 12/22 | chr16 | TogoVar | ||||||
| ADAMTS18_chr16_77277128_77440034 | 77334748 | GTATACTA others(63): Show |
G | intron_variant | MODIFIER | NA20129.hp1 | a0036 | a0036c0049 | a0036c0049t0004 | a0036c0049t0004g0030 | 1 | 326 | 0.0031 | -70 | c.185 others(88): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 12/22 | chr16 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1201787 | ACCTTCAT others(63): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00639.hp1 others(15): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0002c0004others(2): Show | a0001c0001t0013a0001c0001t0015a0001c0001t0054others(11): Show | a0001c0001t0013g0007a0001c0001t0015g0005a0001c0001t0054g0083others(15): Show | 18 | 106 | 0.1698 | -70 | c.168 others(89): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 7/9 | chr10 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1237995 | CCCCCTGC others(63): Show |
C | intron_variant | MODIFIER | HG04184.hp1 NA20129.hp2 |
a0001a0002 | a0001c0001a0002c0014 | a0001c0001t0009a0002c0014t0008 | a0001c0001t0009g0054a0002c0014t0008g0060 | 2 | 106 | 0.0189 | -70 | c.136 others(89): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1239430 | CCCTCTGC others(63): Show |
C | intron_variant | MODIFIER | NA19070.hp2 | a0002 | a0002c0002 | a0002c0002t0065 | a0002c0002t0065g0086 | 1 | 106 | 0.0094 | -70 | c.136 others(89): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar |