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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TYW1_chr7_66991833_67244514 | 67029407 | G | GTATATAT others(41): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 276 | 0.0036 | 48 | c.984 others(65): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TYW1_chr7_66991833_67244514 | 67029407 | G | GTGTGTAT others(41): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG06807.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 a0001c0001t0001g0161 a0001c0001t0001g0174 others(1): Show |
4 | 279 | 0.0143 | 48 | c.984 others(65): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TYW1_chr7_66991833_67244514 | 67029409 | G | GTATATAT others(41): Show |
intron_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0350 | 1 | 157 | 0.0064 | 48 | c.984 others(65): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TYW1_chr7_66991833_67244514 | 67029409 | G | GTATATAT others(41): Show |
intron_variant | MODIFIER | HG03942.hp2 NA18522.hp1 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0002 | a0001c0001t0001g0130 a0003c0005t0002g0200 |
2 | 158 | 0.0127 | 48 | c.984 others(65): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TYW1_chr7_66991833_67244514 | 67029409 | G | GTGTATAT others(41): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00609.hp1 HG01109.hp2 others(45): Show |
a0001 | a0001c0001a0001c0015 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(1): Show | a0001c0001t0001g0081 a0001c0001t0001g0094 a0001c0001t0001g0111 others(45): Show |
48 | 204 | 0.2353 | 48 | c.984 others(65): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UACA_chr15_70649554_70768558 | 70712064 | A | ATATATAT others(41): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02976.hp2 |
a0001a0005 | a0001c0003a0005c0009 | a0001c0003t0002a0005c0009t0004 | a0001c0003t0002g0215 a0005c0009t0004g0254 |
2 | 301 | 0.0066 | 48 | c.79- others(65): Show |
UACA | ENSG00000137831.15 | transcript | ENST00000322954.11 | protein_coding | 1/18 | chr15 | TogoVar | |||||||
UBAP1_chr9_34174043_34257523 | 34202624 | C | CCTGTGTG others(41): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02559.hp1 HG03486.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0041 a0001c0001t0001g0055 a0001c0001t0001g0121 others(3): Show |
6 | 25 | 0.2400 | 48 | c.-7- others(65): Show |
UBAP1 | ENSG00000165006.14 | transcript | ENST00000297661.9 | protein_coding | 1/6 | chr9 | TogoVar | |||||||
UBAP2_chr9_33916693_34053887 | 33981184 | G | GATATATA others(41): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0247 | 1 | 180 | 0.0056 | 48 | c.520 others(65): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 6/28 | chr9 | TogoVar | |||||||
UBAP2_chr9_33916693_34053887 | 33981226 | G | GATATATA others(41): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0068 | 1 | 269 | 0.0037 | 48 | c.520 others(65): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 6/28 | chr9 | TogoVar | |||||||
UBAP2_chr9_33916693_34053887 | 34035514 | A | AAAAAAAA others(41): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0216 | 1 | 46 | 0.0217 | 48 | c.-42 others(67): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 1/28 | chr9 | TogoVar | |||||||
UBAP2_chr9_33916693_34053887 | 34035514 | A | AAAAAAAA others(41): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01952.hp2 NA18956.hp2 others(3): Show |
a0001a0005 | a0001c0002a0005c0006 | a0001c0002t0001a0005c0006t0001 | a0001c0002t0001g0134 a0001c0002t0001g0174 a0001c0002t0001g0188 others(3): Show |
6 | 51 | 0.1176 | 48 | c.-42 others(67): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 1/28 | chr9 | TogoVar | |||||||
UBAP2_chr9_33916693_34053887 | 34035514 | A | AAAAAAAA others(41): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0198 | 1 | 46 | 0.0217 | 48 | c.-42 others(67): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 1/28 | chr9 | TogoVar | |||||||
UBASH3B_chr11_122650722_122819473 | 122690194 | A | ATATATAT others(41): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0002 | a0002c0011 | a0002c0011t0010 | a0002c0011t0010g0090 | 1 | 228 | 0.0044 | 48 | c.161 others(67): Show |
UBASH3B | ENSG00000154127.10 | transcript | ENST00000284273.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
UBC_chr12_124906646_124919650 | 124907720 | T | TATGAATA others(41): Show |
downstream_gene_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 440 | 0.0023 | 48 | c.*39 others(59): Show |
UBC | ENSG00000150991.16 | transcript | ENST00000339647.6 | protein_coding | 3925 | chr12 | TogoVar | |||||||
UBC_chr12_124906646_124919650 | 124907720 | T | TGAATATA others(41): Show |
downstream_gene_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 440 | 0.0023 | 48 | c.*39 others(59): Show |
UBC | ENSG00000150991.16 | transcript | ENST00000339647.6 | protein_coding | 3925 | chr12 | TogoVar | |||||||
UBC_chr12_124906646_124919650 | 124907752 | A | AATATATG others(41): Show |
downstream_gene_variant | MODIFIER | HG01175.hp2 HG01433.hp1 HG02258.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0004 a0001c0002t0001g0001 |
11 | 193 | 0.0570 | 48 | c.*39 others(59): Show |
UBC | ENSG00000150991.16 | transcript | ENST00000339647.6 | protein_coding | 3893 | chr12 | TogoVar | |||||||
UBC_chr12_124906646_124919650 | 124907752 | A | AATATATG others(41): Show |
downstream_gene_variant | MODIFIER | HG02071.hp2 NA18964.hp2 NA18974.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 4 | 186 | 0.0215 | 48 | c.*39 others(59): Show |
UBC | ENSG00000150991.16 | transcript | ENST00000339647.6 | protein_coding | 3893 | chr12 | TogoVar | |||||||
UBC_chr12_124906646_124919650 | 124907762 | T | TATATATA others(41): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG02818.hp1 HG03942.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0007 | a0001c0002t0001g0001 a0001c0002t0007g0020 |
3 | 418 | 0.0072 | 48 | c.*39 others(59): Show |
UBC | ENSG00000150991.16 | transcript | ENST00000339647.6 | protein_coding | 3883 | chr12 | TogoVar | |||||||
UBE2D2_chr5_139556339_139633434 | 139625172 | C | CCCAGCCT others(41): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00597.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003 a0001c0001t0001g0041 a0001c0001t0001g0056 others(27): Show |
30 | 220 | 0.1364 | 48 | c.399 others(65): Show |
UBE2D2 | ENSG00000131508.17 | transcript | ENST00000398733.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
UBE2R2_chr9_33812160_33925399 | 33877823 | G | GTCTGTCT others(41): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0012 | 1 | 216 | 0.0046 | 48 | c.178 others(65): Show |
UBE2R2 | ENSG00000107341.5 | transcript | ENST00000263228.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UBE2U_chr1_64198623_64272368 | 64200434 | T | TCCCTCCC others(41): Show |
upstream_gene_variant | MODIFIER | HG01433.hp2 HG02280.hp2 |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0004 | 2 | 321 | 0.0062 | 48 | c.-36 others(59): Show |
UBE2U | ENSG00000177414.14 | transcript | ENST00000371077.10 | protein_coding | 3188 | chr1 | TogoVar | |||||||
UBE2U_chr1_64198623_64272368 | 64200440 | T | TCCCTCCC others(41): Show |
upstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 319 | 0.0031 | 48 | c.-36 others(59): Show |
UBE2U | ENSG00000177414.14 | transcript | ENST00000371077.10 | protein_coding | 3182 | chr1 | TogoVar | |||||||
UBE2U_chr1_64198623_64272368 | 64239116 | A | AGAAGAAG others(41): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0231 | 1 | 304 | 0.0033 | 48 | c.596 others(65): Show |
UBE2U | ENSG00000177414.14 | transcript | ENST00000371077.10 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
UBE2U_chr1_64198623_64272368 | 64239118 | A | AAGAAGGA others(41): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0285 | 1 | 326 | 0.0031 | 48 | c.596 others(65): Show |
UBE2U | ENSG00000177414.14 | transcript | ENST00000371077.10 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
UBE2U_chr1_64198623_64272368 | 64239157 | A | AAGAAGAA others(41): Show |
intron_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0029 | 1 | 192 | 0.0052 | 48 | c.596 others(65): Show |
UBE2U | ENSG00000177414.14 | transcript | ENST00000371077.10 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
UBR1_chr15_42937897_43111038 | 43005385 | G | GCCCCCGC others(41): Show |
intron_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 274 | 0.0036 | 48 | c.341 others(67): Show |
UBR1 | ENSG00000159459.12 | transcript | ENST00000290650.9 | protein_coding | 30/46 | chr15 | TogoVar | |||||||
UBR1_chr15_42937897_43111038 | 43075956 | G | GCCCTCTC others(41): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0013 | a0013c0024 | a0013c0024t0003 | a0013c0024t0003g0259 | 1 | 235 | 0.0043 | 48 | c.418 others(63): Show |
UBR1 | ENSG00000159459.12 | transcript | ENST00000290650.9 | protein_coding | 3/46 | chr15 | TogoVar | |||||||
UBR3_chr2_169822454_170089131 | 169890540 | G | GAGAGAGA others(41): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0010 | a0001c0010t0011 | a0001c0010t0011g0226 | 1 | 60 | 0.0167 | 48 | c.103 others(65): Show |
UBR3 | ENSG00000144357.18 | transcript | ENST00000272793.11 | protein_coding | 5/38 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UBR3_chr2_169822454_170089131 | 169890555 | A | ATATATAT others(41): Show |
intron_variant | MODIFIER | NA18939.hp1 NA18991.hp1 NA20905.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0113 a0001c0002t0002g0175 a0001c0002t0002g0180 |
3 | 218 | 0.0138 | 48 | c.103 others(65): Show |
UBR3 | ENSG00000144357.18 | transcript | ENST00000272793.11 | protein_coding | 5/38 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UBR3_chr2_169822454_170089131 | 169890555 | A | ATATATAT others(41): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0119 | 1 | 216 | 0.0046 | 48 | c.103 others(65): Show |
UBR3 | ENSG00000144357.18 | transcript | ENST00000272793.11 | protein_coding | 5/38 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UBR3_chr2_169822454_170089131 | 169890555 | A | ATATATAT others(41): Show |
intron_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0117 | 1 | 216 | 0.0046 | 48 | c.103 others(65): Show |
UBR3 | ENSG00000144357.18 | transcript | ENST00000272793.11 | protein_coding | 5/38 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UBR3_chr2_169822454_170089131 | 169890569 | A | ATATATAT others(41): Show |
intron_variant | MODIFIER | HG01891.hp1 NA18522.hp1 |
a0001 | a0001c0003 | a0001c0003t0015 | a0001c0003t0015g0248 a0001c0003t0015g0251 |
2 | 310 | 0.0065 | 48 | c.103 others(65): Show |
UBR3 | ENSG00000144357.18 | transcript | ENST00000272793.11 | protein_coding | 5/38 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UBR3_chr2_169822454_170089131 | 169890577 | A | ATATATAT others(41): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0007 | a0001c0007t0007 | a0001c0007t0007g0278 | 1 | 321 | 0.0031 | 48 | c.103 others(65): Show |
UBR3 | ENSG00000144357.18 | transcript | ENST00000272793.11 | protein_coding | 5/38 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UBR3_chr2_169822454_170089131 | 169890581 | G | GTGTATAT others(41): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02486.hp1 HG02717.hp2 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0005a0001c0003t0021 | a0001c0003t0005g0252 a0001c0003t0005g0253 a0001c0003t0005g0254 others(3): Show |
6 | 204 | 0.0294 | 48 | c.103 others(65): Show |
UBR3 | ENSG00000144357.18 | transcript | ENST00000272793.11 | protein_coding | 5/38 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UBXN11_chr1_26277282_26311636 | 26282328 | A | AGGGACTG others(41): Show |
conservative_inframe_insertion | MODERATE | HG00738.hp2 HG01081.hp2 HG01106.hp2 others(18): Show |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0001 a0002c0001t0001g0006 a0002c0001t0001g0030 others(11): Show |
21 | 283 | 0.0742 | 48 | c.148 others(57): Show |
p.Pro others(61): Show |
UBXN11 | ENSG00000158062.21 | transcript | ENST00000374222.6 | protein_coding | 15/15 | 1613/1660 | 1533/1563 | 511/520 | chr1 | TogoVar | |||
UCHL3_chr13_75544791_75611020 | 75592424 | A | ATATATGT others(41): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 324 | 0.0031 | 48 | c.475 others(65): Show |
UCHL3 | ENSG00000118939.19 | transcript | ENST00000377595.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UCHL3_chr13_75544791_75611020 | 75592429 | T | TGTATATA others(41): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 317 | 0.0032 | 48 | c.475 others(65): Show |
UCHL3 | ENSG00000118939.19 | transcript | ENST00000377595.8 | protein_coding | 6/8 | chr13 | TogoVar | |||||||
UCN3_chr10_5359966_5379692 | 5370134 | T | TGTGTGTA others(41): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0237 | 1 | 400 | 0.0025 | 48 | c.-6- others(63): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
UCN3_chr10_5359966_5379692 | 5370575 | G | GTGTATAT others(41): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0012 | 1 | 445 | 0.0022 | 48 | c.-6- others(63): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
UEVLD_chr11_18524609_18593734 | 18560090 | T | TACACACA others(41): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0062 | 1 | 274 | 0.0036 | 48 | c.613 others(65): Show |
UEVLD | ENSG00000151116.17 | transcript | ENST00000396197.8 | protein_coding | 6/11 | chr11 | TogoVar | |||||||
UEVLD_chr11_18524609_18593734 | 18560114 | C | CACACACA others(41): Show |
intron_variant | MODIFIER | NA19006.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0371 | 1 | 398 | 0.0025 | 48 | c.613 others(65): Show |
UEVLD | ENSG00000151116.17 | transcript | ENST00000396197.8 | protein_coding | 6/11 | chr11 | TogoVar | |||||||
UEVLD_chr11_18524609_18593734 | 18560138 | C | CACACACA others(41): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0288 | 1 | 289 | 0.0035 | 48 | c.613 others(65): Show |
UEVLD | ENSG00000151116.17 | transcript | ENST00000396197.8 | protein_coding | 6/11 | chr11 | TogoVar | |||||||
UGGT1_chr2_128086200_128200677 | 128112454 | T | TTATATAT others(41): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02273.hp2 HG02293.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0003t0002others(2): Show | a0001c0001t0001g0083 a0001c0001t0001g0120 a0001c0001t0004g0054 others(5): Show |
8 | 91 | 0.0879 | 48 | c.522 others(63): Show |
UGGT1 | ENSG00000136731.13 | transcript | ENST00000259253.11 | protein_coding | 5/40 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGGT2_chr13_95796580_96058401 | 95924393 | C | CTTTTTTT others(41): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0257 | 1 | 29 | 0.0345 | 48 | c.229 others(67): Show |
UGGT2 | ENSG00000102595.22 | transcript | ENST00000376747.8 | protein_coding | 20/38 | chr13 | TogoVar | |||||||
UGT3A2_chr5_36030021_36071882 | 36068934 | G | GGGAAGGA others(41): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0053 a0001c0001t0004g0217 |
2 | 401 | 0.0050 | 48 | c.-21 others(59): Show |
UGT3A2 | ENSG00000168671.10 | transcript | ENST00000282507.8 | protein_coding | 2053 | chr5 | TogoVar | |||||||
UGT3A2_chr5_36030021_36071882 | 36068938 | G | GGGAGGGA others(41): Show |
upstream_gene_variant | MODIFIER | HG02976.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0057 a0001c0001t0003g0056 |
2 | 114 | 0.0175 | 48 | c.-21 others(59): Show |
UGT3A2 | ENSG00000168671.10 | transcript | ENST00000282507.8 | protein_coding | 2057 | chr5 | TogoVar | |||||||
UGT3A2_chr5_36030021_36071882 | 36068950 | A | AGGAAGGA others(41): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0220 | 1 | 325 | 0.0031 | 48 | c.-21 others(59): Show |
UGT3A2 | ENSG00000168671.10 | transcript | ENST00000282507.8 | protein_coding | 2069 | chr5 | TogoVar | |||||||
UGT8_chr4_114593807_114683225 | 114597754 | G | GATATATA others(41): Show |
upstream_gene_variant | MODIFIER | HG00597.hp2 HG00621.hp2 HG01934.hp1 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0041 a0002c0002t0002g0001 a0002c0002t0002g0004 others(11): Show |
15 | 190 | 0.0789 | 48 | c.-12 others(59): Show |
UGT8 | ENSG00000174607.11 | transcript | ENST00000310836.11 | protein_coding | 1052 | chr4 | TogoVar | |||||||
UGT8_chr4_114593807_114683225 | 114597754 | G | GATATATA others(41): Show |
upstream_gene_variant | MODIFIER | HG01074.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0014 | 1 | 176 | 0.0057 | 48 | c.-12 others(59): Show |
UGT8 | ENSG00000174607.11 | transcript | ENST00000310836.11 | protein_coding | 1052 | chr4 | TogoVar | |||||||
UMAD1_chr7_7635752_7884223 | 7678803 | T | TATATATT others(41): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0079a0001c0001t0080 | a0001c0001t0079g0150 a0001c0001t0080g0147 |
2 | 246 | 0.0081 | 48 | c.82+ others(63): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |