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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UGT1A3_chr2_233724042_233778300 | 233757535 | A | AATATATA others(29): Show |
intron_variant | MODIFIER | HG03486.hp1 HG03579.hp1 HG04204.hp2 others(3): Show |
a0002a0009 | a0002c0002a0009c0009 | a0002c0002t0001a0002c0002t0004a0009c0009t0001 | a0002c0002t0001g0129a0002c0002t0001g0163a0002c0002t0001g0187others(3): Show | 6 | 350 | 0.0171 | 36 | c.868 others(53): Show |
UGT1A3 | ENSG00000288702.1 | transcript | ENST00000482026.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
UGT1A3_chr2_233724042_233778300 | 233757535 | A | AATATATA others(29): Show |
intron_variant | MODIFIER | NA18972.hp1 | a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0122 | 1 | 350 | 0.0029 | 36 | c.868 others(53): Show |
UGT1A3 | ENSG00000288702.1 | transcript | ENST00000482026.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
UGT1A4_chr2_233713736_233778300 | 233757535 | A | AATATATA others(29): Show |
intron_variant | MODIFIER | HG03139.hp2 HG03486.hp2 HG03579.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0064a0001c0001t0001g0112a0001c0001t0001g0124others(4): Show | 7 | 332 | 0.0211 | 36 | c.868 others(53): Show |
UGT1A4 | ENSG00000244474.6 | transcript | ENST00000373409.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
UGT1A4_chr2_233713736_233778300 | 233757535 | A | AATATATA others(29): Show |
intron_variant | MODIFIER | NA18972.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0297 | 1 | 332 | 0.0030 | 36 | c.868 others(53): Show |
UGT1A4 | ENSG00000244474.6 | transcript | ENST00000373409.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
UGT1A5_chr2_233707907_233778300 | 233757535 | A | AATATATA others(29): Show |
intron_variant | MODIFIER | HG03139.hp2 HG03486.hp2 HG03579.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0068a0001c0001t0001g0109a0001c0001t0001g0148others(4): Show | 7 | 330 | 0.0212 | 36 | c.868 others(53): Show |
UGT1A5 | ENSG00000288705.1 | transcript | ENST00000373414.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
UGT1A5_chr2_233707907_233778300 | 233757535 | A | AATATATA others(29): Show |
intron_variant | MODIFIER | NA18972.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0043 | 1 | 330 | 0.0030 | 36 | c.868 others(53): Show |
UGT1A5 | ENSG00000288705.1 | transcript | ENST00000373414.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
UGT1A6_chr2_233687890_233778300 | 233757535 | A | AATATATA others(29): Show |
intron_variant | MODIFIER | HG03139.hp2 HG03486.hp2 HG03579.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001a0002c0002t0002 | a0001c0001t0002g0238a0002c0002t0001g0015a0002c0002t0001g0042others(3): Show | 6 | 332 | 0.0181 | 36 | c.862 others(53): Show |
UGT1A6 | ENSG00000167165.19 | transcript | ENST00000305139.11 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
UGT1A6_chr2_233687890_233778300 | 233757535 | A | AATATATA others(29): Show |
intron_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0105 | 1 | 332 | 0.0030 | 36 | c.862 others(53): Show |
UGT1A6 | ENSG00000167165.19 | transcript | ENST00000305139.11 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
UGT1A7_chr2_233676901_233778300 | 233757535 | A | AATATATA others(29): Show |
intron_variant | MODIFIER | HG03139.hp2 HG03486.hp2 HG03579.hp1 others(3): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0002a0002c0002t0001a0004c0005t0002 | a0001c0001t0002g0275a0002c0002t0001g0045a0002c0002t0001g0047others(3): Show | 6 | 320 | 0.0188 | 36 | c.856 others(53): Show |
UGT1A7 | ENSG00000244122.3 | transcript | ENST00000373426.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
UGT1A7_chr2_233676901_233778300 | 233757535 | A | AATATATA others(29): Show |
intron_variant | MODIFIER | NA18972.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0133 | 1 | 320 | 0.0031 | 36 | c.856 others(53): Show |
UGT1A7 | ENSG00000244122.3 | transcript | ENST00000373426.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
UGT1A8_chr2_233612633_233778300 | 233757535 | A | AATATATA others(29): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03486.hp2 HG03579.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008 | a0001c0001t0001g0158a0001c0001t0001g0180a0001c0001t0001g0206others(3): Show | 6 | 290 | 0.0207 | 36 | c.856 others(53): Show |
UGT1A8 | ENSG00000242366.4 | transcript | ENST00000373450.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
UGT1A8_chr2_233612633_233778300 | 233757535 | A | AATATATA others(29): Show |
intron_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0090 | 1 | 290 | 0.0035 | 36 | c.856 others(53): Show |
UGT1A8 | ENSG00000242366.4 | transcript | ENST00000373450.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
UGT1A9_chr2_233666898_233778300 | 233757535 | A | AATATATA others(29): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03486.hp1 HG03579.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0221a0001c0001t0001g0280a0001c0001t0001g0296others(3): Show | 6 | 318 | 0.0189 | 36 | c.856 others(53): Show |
UGT1A9 | ENSG00000241119.2 | transcript | ENST00000354728.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
UGT1A9_chr2_233666898_233778300 | 233757535 | A | AATATATA others(29): Show |
intron_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 1 | 318 | 0.0031 | 36 | c.856 others(53): Show |
UGT1A9 | ENSG00000241119.2 | transcript | ENST00000354728.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
UGT3A2_chr5_36030021_36071882 | 36067822 | G | GGAGAGAG others(29): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0005 | 2 | 410 | 0.0049 | 36 | c.-10 others(47): Show |
UGT3A2 | ENSG00000168671.10 | transcript | ENST00000282507.8 | protein_coding | 941 | chr5 | TogoVar | ||||||
UGT3A2_chr5_36030021_36071882 | 36067865 | G | GAGAGAGA others(29): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG01099.hp2 HG02071.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0002a0001c0001t0002g0106a0001c0001t0003g0011 | 5 | 410 | 0.0122 | 36 | c.-10 others(47): Show |
UGT3A2 | ENSG00000168671.10 | transcript | ENST00000282507.8 | protein_coding | 984 | chr5 | TogoVar | ||||||
UGT3A2_chr5_36030021_36071882 | 36068870 | A | AAGAGGTC others(29): Show |
upstream_gene_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0017 | 1 | 410 | 0.0024 | 36 | c.-20 others(47): Show |
UGT3A2 | ENSG00000168671.10 | transcript | ENST00000282507.8 | protein_coding | 1989 | chr5 | TogoVar | ||||||
UGT3A2_chr5_36030021_36071882 | 36068938 | G | GGGAGGGA others(29): Show |
upstream_gene_variant | MODIFIER | HG02622.hp1 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0005 | 2 | 410 | 0.0049 | 36 | c.-21 others(47): Show |
UGT3A2 | ENSG00000168671.10 | transcript | ENST00000282507.8 | protein_coding | 2057 | chr5 | TogoVar | ||||||
UIMC1_chr5_176900006_177011779 | 176953495 | T | TACACACA others(29): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0181 | 1 | 330 | 0.0030 | 36 | c.134 others(55): Show |
UIMC1 | ENSG00000087206.17 | transcript | ENST00000511320.6 | protein_coding | 8/14 | chr5 | TogoVar | ||||||
ULK2_chr17_19765830_19872936 | 19814433 | T | TATATATA others(29): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02976.hp1 HG03471.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0055a0001c0003t0009g0056a0001c0003t0009g0057others(1): Show | 4 | 288 | 0.0139 | 36 | c.109 others(55): Show |
ULK2 | ENSG00000083290.20 | transcript | ENST00000395544.9 | protein_coding | 13/26 | chr17 | TogoVar | ||||||
ULK4_chr3_41241599_41967103 | 41311877 | C | CATATATA others(29): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0010 | a0010c0008 | a0010c0008t0002 | a0010c0008t0002g0021 | 1 | 72 | 0.0139 | 36 | c.367 others(57): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 35/36 | chr3 | TogoVar | ||||||
ULK4_chr3_41241599_41967103 | 41506767 | A | AAAAAAAA others(29): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0021 | a0021c0024 | a0021c0024t0001 | a0021c0024t0001g0027 | 1 | 72 | 0.0139 | 36 | c.322 others(57): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 32/36 | chr3 | TogoVar | ||||||
ULK4_chr3_41241599_41967103 | 41669787 | A | ATATATTT others(29): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02257.hp1 HG02818.hp2 others(1): Show |
a0003 | a0003c0002 | a0003c0002t0001a0003c0002t0002 | a0003c0002t0001g0006a0003c0002t0002g0007a0003c0002t0002g0008others(1): Show | 4 | 72 | 0.0556 | 36 | c.297 others(55): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 29/36 | chr3 | TogoVar | ||||||
ULK4_chr3_41241599_41967103 | 41901479 | C | CTTTTTTT others(29): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0061 | 1 | 72 | 0.0139 | 36 | c.118 others(53): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 12/36 | chr3 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7777574 | A | AATATATA others(29): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 250 | 0.0040 | 36 | c.83- others(53): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
UMODL1_chr21_42066317_42147996 | 42131344 | T | TGGCCATG others(29): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0013 | a0013c0019 | a0013c0019t0037 | a0013c0019t0037g0370 | 1 | 400 | 0.0025 | 36 | c.377 others(55): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
UMPS_chr3_124725452_124754273 | 124751346 | G | GGAGAGGG others(29): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(115): Show |
a0001 | a0001c0001a0001c0009a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0014a0001c0001t0018others(20): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(44): Show | 118 | 434 | 0.2719 | 36 | c.*72 others(47): Show |
UMPS | ENSG00000114491.14 | transcript | ENST00000232607.7 | protein_coding | 2074 | chr3 | TogoVar | ||||||
UNC13C_chr15_53973441_54633605 | 54339640 | G | GATATATA others(29): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 158 | 0.0063 | 36 | c.471 others(55): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 17/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
UNC13C_chr15_53973441_54633605 | 54455164 | C | CCTCTCTC others(29): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0142 | 1 | 158 | 0.0063 | 36 | c.493 others(57): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 19/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
UNC13C_chr15_53973441_54633605 | 54455205 | C | CTCTCTCT others(29): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0002 | a0001c0002t0024 | a0001c0002t0024g0116 | 1 | 158 | 0.0063 | 36 | c.493 others(57): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 19/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
UNC13C_chr15_53973441_54633605 | 54455205 | C | CTCTCTCT others(29): Show |
intron_variant | MODIFIER | HG02132.hp1 NA19090.hp2 |
a0001 | a0001c0005a0001c0012 | a0001c0005t0003a0001c0012t0017 | a0001c0005t0003g0097a0001c0012t0017g0109 | 2 | 158 | 0.0127 | 36 | c.493 others(57): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 19/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
UNC13C_chr15_53973441_54633605 | 54455205 | C | CTCTCTCT others(29): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0003 | a0001c0003t0050 | a0001c0003t0050g0012 | 1 | 158 | 0.0063 | 36 | c.493 others(57): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 19/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
UNC13C_chr15_53973441_54633605 | 54455205 | C | CTCTCTCT others(29): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0012 | a0001c0012t0017 | a0001c0012t0017g0117 | 1 | 158 | 0.0063 | 36 | c.493 others(57): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 19/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
UNC45B_chr17_35142817_35194343 | 35175075 | G | GAAAGAAA others(29): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 434 | 0.0023 | 36 | c.195 others(53): Show |
UNC45B | ENSG00000141161.12 | transcript | ENST00000394570.7 | protein_coding | 14/19 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
UNC5A_chr5_176805559_176885898 | 176805937 | A | AGAAAGAA others(29): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0080 | 1 | 268 | 0.0037 | 36 | c.-48 others(47): Show |
UNC5A | ENSG00000113763.12 | transcript | ENST00000329542.9 | protein_coding | 4621 | chr5 | TogoVar | ||||||
UNC5A_chr5_176805559_176885898 | 176805981 | A | AGAAAGAA others(29): Show |
upstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0075 | 1 | 268 | 0.0037 | 36 | c.-47 others(47): Show |
UNC5A | ENSG00000113763.12 | transcript | ENST00000329542.9 | protein_coding | 4577 | chr5 | TogoVar | ||||||
UNC5A_chr5_176805559_176885898 | 176858774 | G | GGAAGGAA others(29): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0100 | 1 | 268 | 0.0037 | 36 | c.71- others(51): Show |
UNC5A | ENSG00000113763.12 | transcript | ENST00000329542.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
UNC5A_chr5_176805559_176885898 | 176871365 | C | CAACACCA others(29): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02145.hp2 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0083a0001c0001t0007g0242a0001c0001t0007g0247 | 3 | 268 | 0.0112 | 36 | c.886 others(51): Show |
UNC5A | ENSG00000113763.12 | transcript | ENST00000329542.9 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
UNC5C_chr4_95157504_95553973 | 95256714 | A | ATAAATAT others(29): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0126 | 1 | 204 | 0.0049 | 36 | c.595 others(53): Show |
UNC5C | ENSG00000182168.16 | transcript | ENST00000453304.6 | protein_coding | 4/15 | chr4 | TogoVar | ||||||
UNC5D_chr8_35230475_35801540 | 35587965 | A | AATATATA others(29): Show |
intron_variant | MODIFIER | HG03490.hp1 HG03927.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0042 | 2 | 64 | 0.0313 | 36 | c.467 others(53): Show |
UNC5D | ENSG00000156687.11 | transcript | ENST00000404895.7 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
UNC80_chr2_209766832_210004296 | 209903385 | T | TATATATT others(29): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0022 | a0001c0022t0018 | a0001c0022t0018g0181 | 1 | 188 | 0.0053 | 36 | c.458 others(55): Show |
UNC80 | ENSG00000144406.19 | transcript | ENST00000673920.1 | protein_coding | 28/64 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
UNC93A_chr6_167286315_167321014 | 167295434 | G | GCCTCCCT others(29): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 448 | 0.0022 | 36 | c.270 others(51): Show |
UNC93A | ENSG00000112494.10 | transcript | ENST00000230256.8 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
UNC93A_chr6_167286315_167321014 | 167295439 | C | CCCTCGTG others(29): Show |
intron_variant | MODIFIER | HG02886.hp2 HG02895.hp1 HG03041.hp2 |
a0001a0013 | a0001c0001a0013c0022 | a0001c0001t0002a0001c0001t0005a0013c0022t0002 | a0001c0001t0002g0092a0001c0001t0005g0085a0013c0022t0002g0086 | 3 | 448 | 0.0067 | 36 | c.270 others(51): Show |
UNC93A | ENSG00000112494.10 | transcript | ENST00000230256.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
UNC93A_chr6_167286315_167321014 | 167295645 | C | CTCCTCGC others(29): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0009 | a0009c0012 | a0009c0012t0003 | a0009c0012t0003g0240 | 1 | 448 | 0.0022 | 36 | c.270 others(51): Show |
UNC93A | ENSG00000112494.10 | transcript | ENST00000230256.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
UNC93A_chr6_167286315_167321014 | 167295645 | C | CTCCTCGC others(29): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0021 | a0021c0039 | a0021c0039t0003 | a0021c0039t0003g0231 | 1 | 448 | 0.0022 | 36 | c.270 others(51): Show |
UNC93A | ENSG00000112494.10 | transcript | ENST00000230256.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
UNC93A_chr6_167286315_167321014 | 167295681 | C | CTCCTCGC others(29): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0006 | a0006c0010 | a0006c0010t0005 | a0006c0010t0005g0084 | 1 | 448 | 0.0022 | 36 | c.270 others(51): Show |
UNC93A | ENSG00000112494.10 | transcript | ENST00000230256.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
UNC93A_chr6_167286315_167321014 | 167295745 | C | CCCTCGTG others(29): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02572.hp2 HG03130.hp1 others(1): Show |
a0003a0009 | a0003c0009a0003c0020a0009c0012 | a0003c0009t0007a0003c0020t0007a0009c0012t0003 | a0003c0009t0007g0087a0003c0020t0007g0024a0009c0012t0003g0338 | 4 | 448 | 0.0089 | 36 | c.270 others(51): Show |
UNC93A | ENSG00000112494.10 | transcript | ENST00000230256.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
UNKL_chr16_1358205_1419704 | 1401476 | A | ACTGAAAG others(29): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02486.hp1 HG03209.hp2 others(1): Show |
a0001 | a0001c0008 | a0001c0008t0027a0001c0008t0028 | a0001c0008t0027g0009a0001c0008t0027g0011a0001c0008t0028g0008others(1): Show | 4 | 322 | 0.0124 | 36 | c.598 others(49): Show |
UNKL | ENSG00000059145.19 | transcript | ENST00000389221.9 | protein_coding | 4/14 | chr16 | TogoVar | ||||||
UPF3A_chr13_114276601_114310817 | 114281899 | T | TGGAGGGA others(29): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00738.hp2 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0001g0036others(12): Show | 16 | 450 | 0.0356 | 36 | c.207 others(49): Show |
UPF3A | ENSG00000169062.15 | transcript | ENST00000375299.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
UPK1A_chr19_35661517_35683481 | 35680685 | A | AATAAATA others(29): Show |
downstream_gene_variant | MODIFIER | HG02027.hp2 NA18939.hp2 NA18944.hp2 others(6): Show |
a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0004a0003c0005t0002g0027a0003c0005t0002g0049others(2): Show | 9 | 420 | 0.0214 | 36 | c.*26 others(47): Show |
UPK1A | ENSG00000105668.8 | transcript | ENST00000222275.3 | protein_coding | 2205 | chr19 | TogoVar |