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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UGT2A2_chr4_69583417_69644642 | 69584825 | AAAACACA others(1): Show |
A | downstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01106.hp2 others(9): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0004 | a0001c0001t0001a0003c0003t0001a0004c0004t0001 | a0001c0001t0001g0003 a0001c0001t0001g0069 a0001c0001t0001g0074 others(7): Show |
12 | 307 | 0.0391 | -8 | c.*45 others(19): Show |
UGT2A2 | ENSG00000271271.6 | transcript | ENST00000604629.6 | protein_coding | 3591 | chr4 | TogoVar | |||||||
UGT2A2_chr4_69583417_69644642 | 69584827 | AACACACA others(1): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG01891.hp2 HG01934.hp1 others(2): Show |
a0001a0011 | a0001c0001a0011c0018 | a0001c0001t0001a0001c0001t0002a0011c0018t0001 | a0001c0001t0001g0039 a0001c0001t0001g0164 a0001c0001t0002g0104 others(2): Show |
5 | 144 | 0.0347 | -8 | c.*45 others(19): Show |
UGT2A2 | ENSG00000271271.6 | transcript | ENST00000604629.6 | protein_coding | 3589 | chr4 | TogoVar | |||||||
UGT2A2_chr4_69583417_69644642 | 69602463 | TTATCTAT others(1): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG00597.hp1 HG00621.hp1 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0018 others(32): Show |
50 | 324 | 0.1543 | -8 | c.743 others(25): Show |
UGT2A2 | ENSG00000271271.6 | transcript | ENST00000604629.6 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
UGT2A2_chr4_69583417_69644642 | 69627540 | GAGAGAGA others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(69): Show |
a0001a0008 | a0001c0001a0001c0007a0008c0013 | a0001c0001t0001a0001c0001t0002a0001c0007t0002others(1): Show | a0001c0001t0001g0093 a0001c0001t0001g0098 a0001c0001t0001g0108 others(47): Show |
72 | 376 | 0.1915 | -8 | c.742 others(27): Show |
UGT2A2 | ENSG00000271271.6 | transcript | ENST00000604629.6 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
UGT2A3_chr4_68923463_68956804 | 68934754 | AGGAATTT others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(377): Show |
a0001a0002a0003others(6): Show | a0001c0002a0001c0003a0001c0010others(9): Show | a0001c0002t0003a0001c0002t0004a0001c0002t0014others(21): Show | a0001c0002t0003g0009 a0001c0002t0003g0010 a0001c0002t0003g0014 others(262): Show |
380 | 458 | 0.8297 | -8 | c.865 others(25): Show |
UGT2A3 | ENSG00000135220.11 | transcript | ENST00000251566.9 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
UGT2A3_chr4_68923463_68956804 | 68935272 | GTATGTAT others(1): Show |
G | intron_variant | MODIFIER | NA18957.hp1 NA19007.hp1 NA19077.hp2 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0262 a0002c0001t0001g0280 a0002c0001t0001g0281 |
3 | 252 | 0.0119 | -8 | c.865 others(25): Show |
UGT2A3 | ENSG00000135220.11 | transcript | ENST00000251566.9 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
UGT2B10_chr4_68810994_68837023 | 68835041 | AACACACA others(1): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00544.hp1 HG00735.hp2 others(63): Show |
a0001a0004a0008others(1): Show | a0001c0001a0004c0006a0008c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0024 others(14): Show |
66 | 130 | 0.5077 | -8 | c.*41 others(19): Show |
UGT2B10 | ENSG00000109181.12 | transcript | ENST00000265403.12 | protein_coding | 3019 | chr4 | TogoVar | |||||||
UGT2B4_chr4_69475165_69500905 | 69500566 | AAAGAAAG others(1): Show |
A | upstream_gene_variant | MODIFIER | HG01257.hp1 HG01258.hp1 HG01496.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 3 | 432 | 0.0069 | -8 | c.-47 others(19): Show |
UGT2B4 | ENSG00000156096.15 | transcript | ENST00000305107.7 | protein_coding | 4662 | chr4 | TogoVar | |||||||
UGT2B4_chr4_69475165_69500905 | 69500602 | CAAGGAAG others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00544.hp2 HG00673.hp1 HG01123.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 others(4): Show |
11 | 316 | 0.0348 | -8 | c.-47 others(19): Show |
UGT2B4 | ENSG00000156096.15 | transcript | ENST00000305107.7 | protein_coding | 4698 | chr4 | TogoVar | |||||||
UGT2B4_chr4_69475165_69500905 | 69500606 | GAAGAAAG others(1): Show |
G | upstream_gene_variant | MODIFIER | HG02698.hp2 HG03041.hp1 HG04115.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0003g0044 others(1): Show |
5 | 121 | 0.0413 | -8 | c.-47 others(19): Show |
UGT2B4 | ENSG00000156096.15 | transcript | ENST00000305107.7 | protein_coding | 4702 | chr4 | TogoVar | |||||||
UGT2B7_chr4_69091474_69117987 | 69117344 | AAAAAAAA others(1): Show |
A | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00558.hp2 others(113): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0002c0009others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0020 others(23): Show |
116 | 422 | 0.2749 | -8 | c.*46 others(19): Show |
UGT2B7 | ENSG00000171234.14 | transcript | ENST00000305231.12 | protein_coding | 4358 | chr4 | TogoVar | |||||||
UGT3A2_chr5_36030021_36071882 | 36067863 | GAGAGAGA others(1): Show |
G | upstream_gene_variant | MODIFIER | HG00639.hp2 HG02040.hp1 HG02132.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0156 a0001c0001t0002g0002 a0001c0001t0002g0013 others(3): Show |
17 | 408 | 0.0417 | -8 | c.-10 others(19): Show |
UGT3A2 | ENSG00000168671.10 | transcript | ENST00000282507.8 | protein_coding | 982 | chr5 | TogoVar | |||||||
UGT3A2_chr5_36030021_36071882 | 36068938 | GGGAAGGA others(1): Show |
G | upstream_gene_variant | MODIFIER | HG00544.hp1 HG01069.hp2 HG01071.hp1 others(21): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0009 a0001c0001t0001g0027 a0001c0001t0001g0034 others(13): Show |
24 | 136 | 0.1765 | -8 | c.-21 others(19): Show |
UGT3A2 | ENSG00000168671.10 | transcript | ENST00000282507.8 | protein_coding | 2057 | chr5 | TogoVar | |||||||
UGT8_chr4_114593807_114683225 | 114611403 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG02015.hp1 HG02056.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0003a0001c0001t0004a0001c0006t0003others(1): Show | a0001c0001t0003g0213 a0001c0001t0003g0216 a0001c0001t0003g0217 others(8): Show |
13 | 97 | 0.1340 | -8 | c.-2- others(25): Show |
UGT8 | ENSG00000174607.11 | transcript | ENST00000310836.11 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
UHRF1_chr19_4904501_4967154 | 4933964 | TGTGTGTG others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG00733.hp1 others(39): Show |
a0001a0002 | a0001c0007a0001c0009a0001c0011others(8): Show | a0001c0007t0001a0001c0009t0019a0001c0011t0018others(11): Show | a0001c0007t0001g0033 a0001c0007t0001g0169 a0001c0009t0019g0252 others(38): Show |
42 | 314 | 0.1338 | -8 | c.785 others(25): Show |
UHRF1 | ENSG00000276043.5 | transcript | ENST00000650932.1 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
UHRF2_chr9_6408199_6512054 | 6412156 | AATACATA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG02572.hp1 HG02818.hp2 HG02886.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0018 a0001c0001t0001g0043 a0001c0001t0001g0136 others(1): Show |
4 | 20 | 0.2000 | -8 | c.-13 others(19): Show |
UHRF2 | ENSG00000147854.17 | transcript | ENST00000276893.10 | protein_coding | 1042 | chr9 | TogoVar | |||||||
UIMC1_chr5_176900006_177011779 | 176911167 | AAAGAAAA others(1): Show |
A | intron_variant | MODIFIER | HG01255.hp2 HG01361.hp2 HG02523.hp1 others(7): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0001 | a0001c0002t0001g0030 a0001c0002t0001g0198 a0001c0002t0001g0199 others(7): Show |
10 | 328 | 0.0305 | -8 | c.167 others(25): Show |
UIMC1 | ENSG00000087206.17 | transcript | ENST00000511320.6 | protein_coding | 11/14 | chr5 | TogoVar | |||||||
UIMC1_chr5_176900006_177011779 | 176980306 | GTCCGTCC others(1): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG02698.hp1 HG03516.hp1 others(2): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(1): Show | a0001c0001t0001g0251 a0001c0002t0001g0028 a0002c0003t0001g0155 others(2): Show |
5 | 327 | 0.0153 | -8 | c.147 others(25): Show |
UIMC1 | ENSG00000087206.17 | transcript | ENST00000511320.6 | protein_coding | 2/14 | chr5 | TogoVar | |||||||
UIMC1_chr5_176900006_177011779 | 177003654 | AAAACAAA others(1): Show |
A | intron_variant | MODIFIER | NA18994.hp2 NA19080.hp1 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 |
3 | 325 | 0.0092 | -8 | c.-9+ others(23): Show |
UIMC1 | ENSG00000087206.17 | transcript | ENST00000511320.6 | protein_coding | 1/14 | chr5 | TogoVar | |||||||
ULBP1_chr6_149958943_149978715 | 149975540 | AAAGGAAG others(1): Show |
A | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp1 others(118): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0003c0006others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(12): Show | a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0013 others(30): Show |
121 | 437 | 0.2769 | -8 | c.*41 others(19): Show |
ULBP1 | ENSG00000111981.5 | transcript | ENST00000229708.4 | protein_coding | 1826 | chr6 | TogoVar | |||||||
ULBP3_chr6_150056053_150074121 | 150060986 | CAAAAAAA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(135): Show |
a0001a0003a0009 | a0001c0001a0003c0003a0009c0011 | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(21): Show |
138 | 147 | 0.9388 | -8 | c.*23 others(19): Show |
ULBP3 | ENSG00000131019.11 | transcript | ENST00000367339.7 | protein_coding | 66 | chr6 | TogoVar | |||||||
ULBP3_chr6_150056053_150074121 | 150073174 | GTTTTTTT others(1): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(168): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0009c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(26): Show |
171 | 238 | 0.7185 | -8 | c.-41 others(19): Show |
ULBP3 | ENSG00000131019.11 | transcript | ENST00000367339.7 | protein_coding | 4054 | chr6 | TogoVar | |||||||
ULK2_chr17_19765830_19872936 | 19791844 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG02615.hp2 HG02723.hp1 others(15): Show |
a0001 | a0001c0004a0001c0006 | a0001c0004t0004a0001c0004t0011a0001c0006t0005 | a0001c0004t0004g0005 a0001c0004t0004g0006 a0001c0004t0004g0007 others(15): Show |
18 | 214 | 0.0841 | -8 | c.210 others(27): Show |
ULK2 | ENSG00000083290.20 | transcript | ENST00000395544.9 | protein_coding | 20/26 | chr17 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41289807 | TTATGTAT others(1): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG01071.hp1 HG01071.hp2 others(28): Show |
a0001a0002a0003others(10): Show | a0001c0001a0002c0004a0003c0003others(11): Show | a0001c0001t0001a0001c0001t0003a0002c0004t0002others(12): Show | a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0036 others(28): Show |
31 | 39 | 0.7949 | -8 | c.367 others(29): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 35/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41300836 | ATTATATA others(1): Show |
A | intron_variant | MODIFIER | HG01081.hp2 HG01106.hp1 HG01109.hp1 others(1): Show |
a0001a0006a0013 | a0001c0001a0006c0007a0013c0024 | a0001c0001t0001a0006c0007t0001a0013c0024t0001 | a0001c0001t0001g0036 a0001c0001t0001g0044 a0006c0007t0001g0023 others(1): Show |
4 | 57 | 0.0702 | -8 | c.367 others(29): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 35/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41343295 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG02895.hp2 HG02896.hp2 HG03209.hp1 others(1): Show |
a0010a0019a0020 | a0010c0011a0019c0017a0020c0018 | a0010c0011t0002a0019c0017t0001a0020c0018t0001 | a0010c0011t0002g0010 a0010c0011t0002g0011 a0019c0017t0001g0022 others(1): Show |
4 | 30 | 0.1333 | -8 | c.367 others(29): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 35/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41435951 | CATAAATA others(1): Show |
C | intron_variant | MODIFIER | HG00621.hp1 HG00735.hp1 HG00735.hp2 others(41): Show |
a0001a0002a0003others(15): Show | a0001c0001a0002c0004a0002c0009others(18): Show | a0001c0001t0001a0001c0001t0003a0002c0004t0002others(20): Show | a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0036 others(41): Show |
44 | 48 | 0.9167 | -8 | c.349 others(29): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 34/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41506767 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02622.hp2 |
a0004a0016 | a0004c0002a0016c0015 | a0004c0002t0005a0016c0015t0001 | a0004c0002t0005g0068 a0016c0015t0001g0005 |
2 | 22 | 0.0909 | -8 | c.322 others(29): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 32/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41551052 | GAAACAAA others(1): Show |
G | intron_variant | MODIFIER | HG00621.hp2 HG01081.hp1 HG01106.hp2 others(10): Show |
a0001a0003a0006others(2): Show | a0001c0001a0003c0003a0006c0007others(2): Show | a0001c0001t0001a0001c0001t0003a0003c0003t0001others(4): Show | a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0042 others(10): Show |
13 | 70 | 0.1857 | -8 | c.322 others(29): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 32/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41678177 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01433.hp2 HG01891.hp1 HG02895.hp1 |
a0001a0016 | a0001c0001a0016c0015 | a0001c0001t0001a0016c0015t0001 | a0001c0001t0001g0026 a0001c0001t0001g0039 a0016c0015t0001g0005 |
3 | 33 | 0.0909 | -8 | c.297 others(27): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 29/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41831008 | TTTTTTTT others(1): Show |
T | intron_variant | MODIFIER | HG00621.hp2 HG00735.hp1 HG01169.hp2 others(21): Show |
a0003a0004a0005others(6): Show | a0003c0003a0003c0016a0004c0002others(7): Show | a0003c0003t0001a0003c0003t0006a0003c0016t0001others(10): Show | a0003c0003t0001g0059 a0003c0003t0001g0060 a0003c0003t0001g0061 others(21): Show |
24 | 60 | 0.4000 | -8 | c.176 others(27): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 18/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41906971 | GACTGAGC others(1): Show |
G | intron_variant | MODIFIER | HG01169.hp2 HG01515.hp1 HG02258.hp1 others(4): Show |
a0003a0019 | a0003c0003a0003c0016a0019c0017 | a0003c0003t0001a0003c0003t0006a0003c0016t0001others(1): Show | a0003c0003t0001g0059 a0003c0003t0001g0060 a0003c0003t0001g0061 others(4): Show |
7 | 70 | 0.1000 | -8 | c.118 others(25): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 12/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41917988 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG02622.hp2 NA18522.hp2 |
a0004a0020 | a0004c0002a0020c0018 | a0004c0002t0005a0020c0018t0001 | a0004c0002t0005g0068 a0020c0018t0001g0050 |
2 | 17 | 0.1176 | -8 | c.727 others(23): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 7/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41921614 | CTAAATAA others(1): Show |
C | intron_variant | MODIFIER | HG02622.hp2 HG03540.hp2 |
a0004 | a0004c0002 | a0004c0002t0005 | a0004c0002t0005g0067 a0004c0002t0005g0068 |
2 | 70 | 0.0286 | -8 | c.542 others(25): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 5/36 | chr3 | TogoVar | |||||||
UMAD1_chr7_7635752_7884223 | 7666184 | TTTTGTTT others(1): Show |
T | intron_variant | MODIFIER | HG01069.hp1 HG01167.hp1 HG01192.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0016a0001c0001t0017others(4): Show | a0001c0001t0015g0137 a0001c0001t0016g0125 a0001c0001t0017g0133 others(4): Show |
7 | 119 | 0.0588 | -8 | c.-63 others(25): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7667591 | AATGTTTA others(1): Show |
A | intron_variant | MODIFIER | HG02818.hp1 HG02922.hp2 HG03041.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0029a0001c0001t0065 | a0001c0001t0020g0216 a0001c0001t0029g0215 a0001c0001t0029g0217 others(1): Show |
4 | 248 | 0.0161 | -8 | c.-63 others(25): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7693295 | TTATCTAT others(1): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02723.hp2 HG03195.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0016a0001c0001t0022others(2): Show | a0001c0001t0003g0238 a0001c0001t0016g0145 a0001c0001t0022g0120 others(3): Show |
6 | 24 | 0.2500 | -8 | c.82+ others(25): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7746955 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG01243.hp1 HG01346.hp1 others(51): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0053 a0001c0001t0001g0114 a0001c0001t0002g0015 others(51): Show |
54 | 180 | 0.3000 | -8 | c.83- others(25): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7864602 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG02622.hp2 HG02630.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0023a0001c0001t0037others(5): Show | a0001c0001t0004g0012 a0001c0001t0004g0075 a0001c0001t0023g0203 others(8): Show |
11 | 35 | 0.3143 | -8 | c.157 others(27): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMODL1_chr21_42066317_42147996 | 42077002 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00639.hp2 HG00735.hp1 others(33): Show |
a0001a0002a0003others(21): Show | a0001c0001a0001c0134a0002c0002others(24): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0023others(27): Show | a0001c0001t0001g0185 a0001c0001t0001g0387 a0001c0001t0004g0104 others(33): Show |
36 | 67 | 0.5373 | -8 | c.319 others(23): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
UMODL1_chr21_42066317_42147996 | 42122546 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG01069.hp1 HG01069.hp2 others(11): Show |
a0014a0025a0040others(3): Show | a0014c0009a0025c0028a0040c0058others(3): Show | a0014c0009t0008a0025c0028t0001a0040c0058t0003others(3): Show | a0014c0009t0008g0004 a0014c0009t0008g0118 a0014c0009t0008g0144 others(9): Show |
14 | 398 | 0.0352 | -8 | c.282 others(25): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
UMODL1_chr21_42066317_42147996 | 42122662 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG01069.hp2 HG01071.hp1 others(5): Show |
a0014a0040 | a0014c0009a0040c0058 | a0014c0009t0008a0040c0058t0003 | a0014c0009t0008g0004 a0014c0009t0008g0118 a0014c0009t0008g0144 others(4): Show |
8 | 267 | 0.0300 | -8 | c.282 others(25): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
UMODL1_chr21_42066317_42147996 | 42123501 | GTGTGTGC others(1): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00621.hp2 others(96): Show |
a0001a0002a0003others(35): Show | a0001c0001a0001c0133a0002c0002others(47): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(52): Show | a0001c0001t0001g0023 a0001c0001t0001g0062 a0001c0001t0001g0063 others(89): Show |
99 | 398 | 0.2487 | -8 | c.314 others(25): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
UMOD_chr16_20328051_20357715 | 20345396 | TTTTTTTT others(1): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG02129.hp1 HG02155.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 a0001c0001t0001g0211 a0001c0001t0001g0236 others(2): Show |
6 | 400 | 0.0150 | -8 | c.118 others(25): Show |
UMOD | ENSG00000169344.16 | transcript | ENST00000396138.9 | protein_coding | 5/10 | chr16 | TogoVar | |||||||
UMOD_chr16_20328051_20357715 | 20345502 | CCCTTCCT others(1): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00673.hp2 others(25): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0002 | a0001c0001t0001g0050 a0001c0001t0001g0259 a0001c0001t0001g0260 others(12): Show |
28 | 343 | 0.0816 | -8 | c.118 others(25): Show |
UMOD | ENSG00000169344.16 | transcript | ENST00000396138.9 | protein_coding | 5/10 | chr16 | TogoVar | |||||||
UMOD_chr16_20328051_20357715 | 20346883 | GAGAAAGA others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp1 others(197): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(14): Show | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(144): Show |
200 | 304 | 0.6579 | -8 | c.974 others(23): Show |
UMOD | ENSG00000169344.16 | transcript | ENST00000396138.9 | protein_coding | 4/10 | chr16 | TogoVar | |||||||
UMPS_chr3_124725452_124754273 | 124726844 | CAAAAAAA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00741.hp1 HG01361.hp2 HG02145.hp1 others(10): Show |
a0001a0004 | a0001c0001a0001c0004a0001c0010others(1): Show | a0001c0001t0012a0001c0001t0014a0001c0001t0015others(6): Show | a0001c0001t0012g0005 a0001c0001t0014g0015 a0001c0001t0014g0118 others(7): Show |
13 | 67 | 0.1940 | -8 | c.-36 others(19): Show |
UMPS | ENSG00000114491.14 | transcript | ENST00000232607.7 | protein_coding | 3607 | chr3 | TogoVar | |||||||
UMPS_chr3_124725452_124754273 | 124728278 | GTTGTTTG others(1): Show |
G | upstream_gene_variant | MODIFIER | HG02922.hp2 HG02976.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0035a0001c0001t0052 | a0001c0001t0035g0033 a0001c0001t0035g0082 a0001c0001t0052g0033 |
3 | 34 | 0.0882 | -8 | c.-21 others(19): Show |
UMPS | ENSG00000114491.14 | transcript | ENST00000232607.7 | protein_coding | 2173 | chr3 | TogoVar | |||||||
UMPS_chr3_124725452_124754273 | 124746755 | TTGTGTGT others(1): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(53): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0007 | a0001c0001t0046a0001c0001t0056a0002c0002t0002others(3): Show | a0001c0001t0046g0005 a0001c0001t0056g0049 a0002c0002t0002g0003 others(21): Show |
56 | 63 | 0.8889 | -8 | c.*27 others(19): Show |
UMPS | ENSG00000114491.14 | transcript | ENST00000232607.7 | protein_coding | 6/6 | 2706 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
UMPS_chr3_124725452_124754273 | 124749372 | GATTTATT others(1): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(179): Show |
a0001a0002 | a0001c0001a0001c0009a0001c0010others(3): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0016others(28): Show | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(74): Show |
182 | 316 | 0.5759 | -8 | c.*52 others(19): Show |
UMPS | ENSG00000114491.14 | transcript | ENST00000232607.7 | protein_coding | 100 | chr3 | TogoVar |