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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ULK2_chr17_19765830_19872936 | 19810229 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(179): Show |
a0001a0003a0005others(2): Show | a0001c0001a0001c0003a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(31): Show | a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0081 others(179): Show |
182 | 216 | 0.8426 | -13 | c.115 others(30): Show |
ULK2 | ENSG00000083290.20 | transcript | ENST00000395544.9 | protein_coding | 14/26 | chr17 | TogoVar | |||||||
ULK2_chr17_19765830_19872936 | 19810245 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG02486.hp1 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 a0001c0001t0001g0199 |
2 | 286 | 0.0070 | -13 | c.115 others(30): Show |
ULK2 | ENSG00000083290.20 | transcript | ENST00000395544.9 | protein_coding | 14/26 | chr17 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41383091 | TTTTTTTT others(6): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG01071.hp2 HG01515.hp1 others(1): Show |
a0001a0003a0007 | a0001c0001a0003c0003a0007c0005 | a0001c0001t0001a0003c0003t0001a0007c0005t0001 | a0001c0001t0001g0035 a0001c0001t0001g0041 a0003c0003t0001g0060 others(1): Show |
4 | 70 | 0.0571 | -13 | c.367 others(34): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 35/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41691943 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02735.hp2 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0025 | 1 | 39 | 0.0256 | -13 | c.278 others(34): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 27/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41854949 | TAAAAAAA others(6): Show |
T | intron_variant | MODIFIER | HG01169.hp2 HG01515.hp1 HG02258.hp1 others(3): Show |
a0003 | a0003c0003a0003c0016 | a0003c0003t0001a0003c0003t0006a0003c0016t0001 | a0003c0003t0001g0059 a0003c0003t0001g0060 a0003c0003t0001g0061 others(3): Show |
6 | 35 | 0.1714 | -13 | c.165 others(34): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 17/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41901172 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02257.hp1 HG02818.hp2 others(2): Show |
a0004a0010 | a0004c0002a0010c0011 | a0004c0002t0002a0010c0011t0002 | a0004c0002t0002g0007 a0004c0002t0002g0008 a0004c0002t0002g0009 others(2): Show |
5 | 20 | 0.2500 | -13 | c.118 others(30): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 12/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41935209 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG03209.hp1 | a0019 | a0019c0017 | a0019c0017t0001 | a0019c0017t0001g0022 | 1 | 9 | 0.1111 | -13 | c.378 others(28): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 4/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41961550 | ACCCCCCC others(6): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG00735.hp2 HG01071.hp1 others(33): Show |
a0001a0006a0012others(6): Show | a0001c0001a0006c0007a0012c0020others(6): Show | a0001c0001t0001a0001c0001t0003a0006c0007t0001others(7): Show | a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0030 others(33): Show |
36 | 42 | 0.8571 | -13 | c.-49 others(28): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 1/36 | chr3 | TogoVar | |||||||
UMAD1_chr7_7635752_7884223 | 7741580 | ATAATAAT others(6): Show |
A | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0153 | 1 | 227 | 0.0044 | -13 | c.83- others(30): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | chr7 | TogoVar | |||||||
UMAD1_chr7_7635752_7884223 | 7847097 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG02004.hp1 | a0002 | a0002c0003 | a0002c0003t0081 | a0002c0003t0081g0072 | 1 | 244 | 0.0041 | -13 | c.157 others(32): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7847099 | AAAAAAAT others(6): Show |
A | intron_variant | MODIFIER | HG02886.hp1 HG03834.hp2 |
a0001 | a0001c0001 | a0001c0001t0077a0001c0001t0084 | a0001c0001t0077g0180 a0001c0001t0084g0188 |
2 | 230 | 0.0087 | -13 | c.157 others(32): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7847101 | AAAAATAT others(6): Show |
A | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0193 a0001c0001t0009g0194 |
2 | 203 | 0.0099 | -13 | c.157 others(32): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMPS_chr3_124725452_124754273 | 124726844 | CAAAAAAA others(6): Show |
C | upstream_gene_variant | MODIFIER | NA18940.hp2 NA18946.hp2 NA18973.hp1 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0007a0003c0003 | a0001c0001t0004a0002c0007t0002a0003c0003t0032 | a0001c0001t0004g0016 a0002c0007t0002g0003 a0002c0007t0002g0098 others(1): Show |
5 | 59 | 0.0847 | -13 | c.-36 others(24): Show |
UMPS | ENSG00000114491.14 | transcript | ENST00000232607.7 | protein_coding | 3607 | chr3 | TogoVar | |||||||
UNC119B_chr12_120705458_120728640 | 120715521 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | NA18965.hp1 NA18978.hp1 NA18999.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 a0001c0001t0002g0019 |
4 | 10 | 0.4000 | -13 | c.359 others(30): Show |
UNC119B | ENSG00000175970.11 | transcript | ENST00000344651.5 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
UNC13A_chr19_17596336_17693354 | 17677357 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG01361.hp1 NA18906.hp2 |
a0001 | a0001c0011a0001c0070 | a0001c0011t0001a0001c0070t0001 | a0001c0011t0001g0089 a0001c0070t0001g0313 |
2 | 315 | 0.0063 | -13 | c.23- others(28): Show |
UNC13A | ENSG00000130477.16 | transcript | ENST00000519716.7 | protein_coding | 1/43 | chr19 | TogoVar | |||||||
UNC13A_chr19_17596336_17693354 | 17691301 | CTTTTTTT others(6): Show |
C | upstream_gene_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0218 | 1 | 107 | 0.0093 | -13 | c.-31 others(24): Show |
UNC13A | ENSG00000130477.16 | transcript | ENST00000519716.7 | protein_coding | 2948 | chr19 | TogoVar | |||||||
UNC13C_chr15_53973441_54633605 | 54003243 | AAACAATA others(6): Show |
A | intron_variant | MODIFIER | HG03654.hp1 | a0004 | a0004c0009 | a0004c0009t0026 | a0004c0009t0026g0021 | 1 | 156 | 0.0064 | -13 | c.-25 others(32): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 1/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UNC13C_chr15_53973441_54633605 | 54025437 | CAATAACC others(6): Show |
C | intron_variant | MODIFIER | HG02896.hp2 HG03579.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0036a0001c0003t0001 | a0001c0001t0036g0089 a0001c0003t0001g0019 |
2 | 156 | 0.0128 | -13 | c.298 others(32): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 2/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UNC13C_chr15_53973441_54633605 | 54088201 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 HG02922.hp1 others(3): Show |
a0001a0007 | a0001c0002a0001c0014a0001c0021others(1): Show | a0001c0002t0001a0001c0002t0008a0001c0014t0002others(2): Show | a0001c0002t0001g0040 a0001c0002t0008g0075 a0001c0014t0002g0076 others(3): Show |
6 | 25 | 0.2400 | -13 | c.298 others(34): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 2/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UNC13C_chr15_53973441_54633605 | 54172709 | TATATATA others(6): Show |
T | intron_variant | MODIFIER | HG00738.hp2 | a0002 | a0002c0036 | a0002c0036t0004 | a0002c0036t0004g0010 | 1 | 141 | 0.0071 | -13 | c.307 others(34): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 4/32 | chr15 | TogoVar | |||||||
UNC13C_chr15_53973441_54633605 | 54187432 | AGGCCTGA others(6): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01361.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(11): Show | a0001c0001t0001g0044 a0001c0001t0006g0106 a0001c0001t0007g0016 others(12): Show |
15 | 156 | 0.0962 | -13 | c.307 others(34): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 4/32 | chr15 | TogoVar | |||||||
UNC13C_chr15_53973441_54633605 | 54487785 | AAAAAGAC others(6): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00738.hp1 HG01192.hp2 others(9): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(6): Show | a0001c0001t0001g0044 a0001c0001t0006g0122 a0001c0002t0001g0040 others(9): Show |
12 | 156 | 0.0769 | -13 | c.493 others(32): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 19/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UNC13C_chr15_53973441_54633605 | 54589286 | CTTCTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0025 | a0001c0001t0011g0069 a0001c0001t0025g0003 |
2 | 156 | 0.0128 | -13 | c.610 others(34): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 30/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UNC13C_chr15_53973441_54633605 | 54620002 | CTAACCCA others(6): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00735.hp1 HG01192.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0007a0001c0012others(1): Show | a0001c0001t0012a0001c0001t0017a0001c0001t0032others(3): Show | a0001c0001t0012g0057 a0001c0001t0017g0136 a0001c0001t0032g0099 others(5): Show |
8 | 156 | 0.0513 | -13 | c.610 others(32): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 30/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UNC45A_chr15_90930285_90959093 | 90951991 | CTACATCC others(6): Show |
C | intron_variant | MODIFIER | HG02738.hp2 | a0011 | a0011c0022 | a0011c0022t0001 | a0011c0022t0001g0058 | 1 | 394 | 0.0025 | -13 | c.230 others(30): Show |
UNC45A | ENSG00000140553.18 | transcript | ENST00000418476.2 | protein_coding | 17/19 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UNC5A_chr5_176805559_176885898 | 176812212 | CAGCTCCG others(6): Show |
C | intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0262 | 1 | 266 | 0.0038 | -13 | c.70+ others(28): Show |
UNC5A | ENSG00000113763.12 | transcript | ENST00000329542.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
UNC5A_chr5_176805559_176885898 | 176831885 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02809.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0050 a0001c0001t0005g0249 |
2 | 192 | 0.0104 | -13 | c.70+ others(30): Show |
UNC5A | ENSG00000113763.12 | transcript | ENST00000329542.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
UNC5C_chr4_95157504_95553973 | 95229797 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00733.hp2 HG01192.hp1 HG03834.hp1 others(2): Show |
a0001a0002 | a0001c0028a0001c0032a0002c0024others(1): Show | a0001c0028t0033a0001c0032t0024a0002c0024t0001others(1): Show | a0001c0028t0033g0080 a0001c0032t0024g0146 a0002c0024t0001g0019 others(2): Show |
5 | 109 | 0.0459 | -13 | c.110 others(32): Show |
UNC5C | ENSG00000182168.16 | transcript | ENST00000453304.6 | protein_coding | 7/15 | chr4 | TogoVar | |||||||
UNC5D_chr8_35230475_35801540 | 35264729 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00597.hp1 others(46): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(25): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0012 others(46): Show |
49 | 57 | 0.8596 | -13 | c.103 others(32): Show |
UNC5D | ENSG00000156687.11 | transcript | ENST00000404895.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
UNC5D_chr8_35230475_35801540 | 35430304 | ATGTTTCT others(6): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG01928.hp2 others(21): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0012 others(21): Show |
24 | 64 | 0.3750 | -13 | c.104 others(34): Show |
UNC5D | ENSG00000156687.11 | transcript | ENST00000404895.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
UNC5D_chr8_35230475_35801540 | 35510310 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 31 | 0.0323 | -13 | c.104 others(32): Show |
UNC5D | ENSG00000156687.11 | transcript | ENST00000404895.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
UNC5D_chr8_35230475_35801540 | 35607840 | ACCCTAAC others(6): Show |
A | intron_variant | MODIFIER | HG00597.hp2 HG02083.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0032 a0001c0001t0002g0023 |
2 | 64 | 0.0313 | -13 | c.570 others(32): Show |
UNC5D | ENSG00000156687.11 | transcript | ENST00000404895.7 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
UNC79_chr14_93425939_93712876 | 93462663 | TTTAGTGA others(6): Show |
T | intron_variant | MODIFIER | HG02647.hp1 HG02717.hp1 HG02922.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0017 a0001c0002t0001g0021 a0001c0002t0001g0022 others(2): Show |
5 | 192 | 0.0260 | -13 | c.23- others(28): Show |
UNC79 | ENSG00000133958.14 | transcript | ENST00000695012.1 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
UNC79_chr14_93425939_93712876 | 93467628 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 8 | 0.1250 | -13 | c.23- others(24): Show |
UNC79 | ENSG00000133958.14 | transcript | ENST00000695012.1 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
UNC79_chr14_93425939_93712876 | 93558593 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG01516.hp2 HG03516.hp2 NA18955.hp1 others(1): Show |
a0001a0002 | a0001c0005a0002c0003a0002c0015others(1): Show | a0001c0005t0001a0002c0003t0001a0002c0015t0001others(1): Show | a0001c0005t0001g0025 a0002c0003t0001g0106 a0002c0015t0001g0066 others(1): Show |
4 | 6 | 0.6667 | -13 | c.175 others(34): Show |
UNC79 | ENSG00000133958.14 | transcript | ENST00000695012.1 | protein_coding | 14/51 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
UNC80_chr2_209766832_210004296 | 209837174 | TAAATATC others(6): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG01123.hp1 HG01175.hp2 others(15): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0007a0001c0003t0001a0001c0003t0002others(6): Show | a0001c0001t0007g0094 a0001c0001t0007g0095 a0001c0003t0001g0077 others(15): Show |
18 | 186 | 0.0968 | -13 | c.304 others(32): Show |
UNC80 | ENSG00000144406.19 | transcript | ENST00000673920.1 | protein_coding | 18/64 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UNC80_chr2_209766832_210004296 | 209844446 | TTTTCTTT others(6): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG02486.hp1 HG02615.hp1 others(7): Show |
a0001a0005 | a0001c0005a0001c0006a0001c0012others(5): Show | a0001c0005t0001a0001c0006t0001a0001c0012t0001others(5): Show | a0001c0005t0001g0075 a0001c0006t0001g0089 a0001c0006t0001g0090 others(7): Show |
10 | 178 | 0.0562 | -13 | c.345 others(32): Show |
UNC80 | ENSG00000144406.19 | transcript | ENST00000673920.1 | protein_coding | 21/64 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UNC80_chr2_209766832_210004296 | 209890389 | CACCCACC others(6): Show |
C | intron_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0166 | 1 | 186 | 0.0054 | -13 | c.427 others(32): Show |
UNC80 | ENSG00000144406.19 | transcript | ENST00000673920.1 | protein_coding | 26/64 | chr2 | TogoVar | |||||||
UNG_chr12_109092597_109115992 | 109113427 | AGATCTCT others(6): Show |
A | downstream_gene_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 450 | 0.0022 | -13 | c.*34 others(24): Show |
UNG | ENSG00000076248.12 | transcript | ENST00000242576.7 | protein_coding | 2436 | chr12 | TogoVar | |||||||
UNKL_chr16_1358205_1419704 | 1400417 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0013 | a0001c0013t0030 | a0001c0013t0030g0013 | 1 | 2 | 0.5000 | -13 | c.599 others(28): Show |
UNKL | ENSG00000059145.19 | transcript | ENST00000389221.9 | protein_coding | 4/14 | chr16 | TogoVar | |||||||
UNKL_chr16_1358205_1419704 | 1405194 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00621.hp2 NA18974.hp2 NA19054.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0040a0001c0001t0064 | a0001c0001t0002g0107 a0001c0001t0040g0102 a0001c0001t0064g0043 |
3 | 8 | 0.3750 | -13 | c.288 others(30): Show |
UNKL | ENSG00000059145.19 | transcript | ENST00000389221.9 | protein_coding | 2/14 | chr16 | TogoVar | |||||||
UPB1_chr22_24490332_24533390 | 24509361 | GAAAAAAA others(6): Show |
G | intron_variant | MODIFIER | HG01257.hp1 HG01257.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0113 a0001c0001t0002g0126 |
2 | 59 | 0.0339 | -13 | c.365 others(30): Show |
UPB1 | ENSG00000100024.15 | transcript | ENST00000326010.10 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
UPB1_chr22_24490332_24533390 | 24527588 | TCAGAGAA others(6): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0214 | 1 | 350 | 0.0029 | -13 | c.*18 others(24): Show |
UPB1 | ENSG00000100024.15 | transcript | ENST00000326010.10 | protein_coding | 10/10 | 1808 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
UPF1_chr19_18826959_18873230 | 18864733 | GTTTTTTT others(6): Show |
G | intron_variant | MODIFIER | NA18940.hp2 NA18952.hp1 NA19005.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0007 | 5 | 75 | 0.0667 | -13 | c.285 others(30): Show |
UPF1 | ENSG00000005007.14 | transcript | ENST00000262803.10 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
UPF2_chr10_11915022_12047809 | 12046996 | GGTAACAT others(6): Show |
G | upstream_gene_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 332 | 0.0030 | -13 | c.-42 others(24): Show |
UPF2 | ENSG00000151461.20 | transcript | ENST00000357604.10 | protein_coding | 4188 | chr10 | TogoVar | |||||||
UPF3A_chr13_114276601_114310817 | 114284477 | AGTTGAGG others(6): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG01168.hp2 HG01169.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 others(2): Show |
5 | 448 | 0.0112 | -13 | c.421 others(30): Show |
UPF3A | ENSG00000169062.15 | transcript | ENST00000375299.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UPK1B_chr3_119168598_119210143 | 119179805 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG01496.hp2 HG02083.hp2 HG02155.hp1 others(25): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0004 | a0001c0001t0001g0006 a0001c0001t0001g0022 a0001c0001t0001g0047 others(22): Show |
28 | 54 | 0.5185 | -13 | c.-29 others(30): Show |
UPK1B | ENSG00000114638.8 | transcript | ENST00000264234.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
UPK3A_chr22_45279949_45300874 | 45282208 | AGAAAGAA others(6): Show |
A | upstream_gene_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0005 | 1 | 442 | 0.0023 | -13 | c.-28 others(24): Show |
UPK3A | ENSG00000100373.10 | transcript | ENST00000216211.9 | protein_coding | 2740 | chr22 | TogoVar | |||||||
UPK3BL1_chr7_102632025_102647791 | 102643239 | AAAAAACA others(6): Show |
A | upstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0041 | 1 | 137 | 0.0073 | -13 | c.-51 others(22): Show |
UPK3BL1 | ENSG00000267368.1 | transcript | ENST00000340457.8 | protein_coding | 449 | chr7 | TogoVar | |||||||
UPK3BL2_chr7_102532919_102548696 | 102544127 | CAAAAAAA others(6): Show |
C | upstream_gene_variant | MODIFIER | HG03239.hp1 HG03927.hp1 NA19079.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0014 |
4 | 6 | 0.6667 | -13 | c.-50 others(22): Show |
UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 432 | chr7 | TogoVar |