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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UMAD1_chr7_7635752_7884223 | 7704301 | TAACTTAA others(2): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0079a0001c0001t0080 | a0001c0001t0079g0150 a0001c0001t0080g0147 |
2 | 248 | 0.0081 | -9 | c.82+ others(26): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7741578 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG02132.hp1 HG02135.hp1 others(36): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(20): Show | a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0002g0015 others(36): Show |
39 | 154 | 0.2532 | -9 | c.83- others(26): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7847101 | AAAAATAT others(2): Show |
A | intron_variant | MODIFIER | HG00733.hp1 HG01981.hp1 HG03098.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0012a0001c0001t0013others(3): Show | a0001c0001t0009g0123 a0001c0001t0012g0108 a0001c0001t0013g0127 others(3): Show |
6 | 207 | 0.0290 | -9 | c.157 others(28): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMPS_chr3_124725452_124754273 | 124726844 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00733.hp1 HG01069.hp2 HG01891.hp1 others(27): Show |
a0001a0002a0005 | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0012others(15): Show | a0001c0001t0001g0010 a0001c0001t0011g0005 a0001c0001t0011g0075 others(21): Show |
30 | 84 | 0.3571 | -9 | c.-36 others(20): Show |
UMPS | ENSG00000114491.14 | transcript | ENST00000232607.7 | protein_coding | 3607 | chr3 | TogoVar | |||||||
UNC13A_chr19_17596336_17693354 | 17631175 | CTCCTTTC others(2): Show |
C | intron_variant | MODIFIER | HG02027.hp1 HG02257.hp1 HG02717.hp2 others(2): Show |
a0001a0002 | a0001c0003a0001c0053a0001c0055others(2): Show | a0001c0003t0001a0001c0053t0023a0001c0055t0001others(2): Show | a0001c0003t0001g0152 a0001c0053t0023g0053 a0001c0055t0001g0102 others(2): Show |
5 | 306 | 0.0163 | -9 | c.342 others(26): Show |
UNC13A | ENSG00000130477.16 | transcript | ENST00000519716.7 | protein_coding | 28/43 | chr19 | TogoVar | |||||||
UNC13A_chr19_17596336_17693354 | 17686298 | GCCCCCCC others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00639.hp2 others(50): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(23): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0007others(36): Show | a0001c0001t0001g0011 a0001c0001t0001g0022 a0001c0001t0001g0080 others(50): Show |
53 | 90 | 0.5889 | -9 | c.22+ others(24): Show |
UNC13A | ENSG00000130477.16 | transcript | ENST00000519716.7 | protein_coding | 1/43 | chr19 | TogoVar | |||||||
UNC13A_chr19_17596336_17693354 | 17691301 | CTTTTTTT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG02486.hp1 HG02559.hp2 HG02717.hp1 others(6): Show |
a0001a0002 | a0001c0002a0001c0008a0001c0023others(4): Show | a0001c0002t0025a0001c0008t0002a0001c0023t0047others(4): Show | a0001c0002t0025g0315 a0001c0008t0002g0274 a0001c0008t0002g0276 others(6): Show |
9 | 115 | 0.0783 | -9 | c.-31 others(20): Show |
UNC13A | ENSG00000130477.16 | transcript | ENST00000519716.7 | protein_coding | 2948 | chr19 | TogoVar | |||||||
UNC13C_chr15_53973441_54633605 | 54138953 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02572.hp1 HG02976.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0002a0001c0001t0011a0001c0001t0029others(5): Show | a0001c0001t0002g0067 a0001c0001t0011g0150 a0001c0001t0029g0090 others(5): Show |
8 | 13 | 0.6154 | -9 | c.298 others(28): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 2/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UNC13C_chr15_53973441_54633605 | 54475281 | TTTATTAT others(2): Show |
T | intron_variant | MODIFIER | HG01993.hp2 HG02572.hp2 |
a0001a0002 | a0001c0002a0002c0018 | a0001c0002t0001a0002c0018t0004 | a0001c0002t0001g0018 a0002c0018t0004g0046 |
2 | 18 | 0.1111 | -9 | c.493 others(30): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 19/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UNC13C_chr15_53973441_54633605 | 54488007 | TGCCTCCA others(2): Show |
T | intron_variant | MODIFIER | HG01255.hp2 HG03471.hp1 NA18522.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0037a0001c0002t0002 | a0001c0001t0002g0102 a0001c0001t0037g0158 a0001c0002t0002g0082 |
3 | 156 | 0.0192 | -9 | c.493 others(28): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 19/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UNC13C_chr15_53973441_54633605 | 54522490 | AAACAACA others(2): Show |
A | intron_variant | MODIFIER | HG02572.hp1 HG02622.hp1 |
a0001 | a0001c0001a0001c0041 | a0001c0001t0030a0001c0041t0025 | a0001c0001t0030g0142 a0001c0041t0025g0156 |
2 | 133 | 0.0150 | -9 | c.545 others(28): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 24/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UNC13C_chr15_53973441_54633605 | 54526740 | GAAAAAAA others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG01192.hp2 others(3): Show |
a0001a0002 | a0001c0012a0001c0032a0002c0015others(1): Show | a0001c0012t0017a0001c0032t0004a0002c0015t0012others(1): Show | a0001c0012t0017g0109 a0001c0012t0017g0117 a0001c0032t0004g0056 others(3): Show |
6 | 116 | 0.0517 | -9 | c.554 others(28): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 25/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UNC13C_chr15_53973441_54633605 | 54529869 | ATTTGTTA others(2): Show |
A | intron_variant | MODIFIER | HG02976.hp1 HG02976.hp2 HG03098.hp2 others(2): Show |
a0001a0014 | a0001c0001a0001c0002a0014c0030 | a0001c0001t0029a0001c0002t0002a0001c0002t0022others(2): Show | a0001c0001t0029g0090 a0001c0002t0002g0063 a0001c0002t0022g0092 others(2): Show |
5 | 156 | 0.0321 | -9 | c.554 others(28): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 25/32 | chr15 | TogoVar | |||||||
UNC50_chr2_98603589_98623515 | 98606768 | ACGTCTGG others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00558.hp2 NA18941.hp2 NA18944.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 8 | 412 | 0.0194 | -9 | c.-19 others(20): Show |
UNC50 | ENSG00000115446.12 | transcript | ENST00000357765.7 | protein_coding | 1820 | chr2 | TogoVar | |||||||
UNC5A_chr5_176805559_176885898 | 176829316 | GGATGTAT others(2): Show |
G | intron_variant | MODIFIER | NA18979.hp2 NA19060.hp1 NA19060.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0033 a0001c0001t0001g0127 a0001c0001t0002g0116 |
3 | 266 | 0.0113 | -9 | c.70+ others(26): Show |
UNC5A | ENSG00000113763.12 | transcript | ENST00000329542.9 | protein_coding | 1/14 | chr5 | TogoVar | |||||||
UNC5A_chr5_176805559_176885898 | 176831883 | CTCTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02559.hp2 HG02622.hp1 HG03195.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008 | a0001c0001t0001g0047 a0001c0001t0001g0099 a0001c0001t0001g0229 others(2): Show |
5 | 76 | 0.0658 | -9 | c.70+ others(26): Show |
UNC5A | ENSG00000113763.12 | transcript | ENST00000329542.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
UNC5B_chr10_71207570_71307864 | 71213675 | AATTATTA others(2): Show |
A | intron_variant | MODIFIER | HG02683.hp2 HG03669.hp1 HG03669.hp2 |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0010a0001c0002t0001a0002c0005t0001 | a0001c0001t0010g0016 a0001c0002t0001g0015 a0002c0005t0001g0017 |
3 | 127 | 0.0236 | -9 | c.79+ others(22): Show |
UNC5B | ENSG00000107731.12 | transcript | ENST00000335350.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
UNC5C_chr4_95157504_95553973 | 95356209 | AAAACAAA others(2): Show |
A | intron_variant | MODIFIER | HG01169.hp2 HG01358.hp2 NA18949.hp1 others(5): Show |
a0001a0002 | a0001c0003a0001c0004a0002c0007others(1): Show | a0001c0003t0001a0001c0004t0007a0001c0004t0028others(3): Show | a0001c0003t0001g0020 a0001c0003t0001g0072 a0001c0004t0007g0093 others(5): Show |
8 | 200 | 0.0400 | -9 | c.125 others(28): Show |
UNC5C | ENSG00000182168.16 | transcript | ENST00000453304.6 | protein_coding | 1/15 | chr4 | TogoVar | |||||||
UNC5C_chr4_95157504_95553973 | 95401284 | CTATTTTT others(2): Show |
C | intron_variant | MODIFIER | HG03540.hp2 NA19030.hp2 |
a0001 | a0001c0011a0001c0014 | a0001c0011t0004a0001c0014t0034 | a0001c0011t0004g0066 a0001c0014t0034g0190 |
2 | 204 | 0.0098 | -9 | c.125 others(28): Show |
UNC5C | ENSG00000182168.16 | transcript | ENST00000453304.6 | protein_coding | 1/15 | chr4 | TogoVar | |||||||
UNC5C_chr4_95157504_95553973 | 95483004 | TATAATAA others(2): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00673.hp1 HG00735.hp1 others(56): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0004a0001c0005others(16): Show | a0001c0003t0001a0001c0003t0003a0001c0003t0013others(34): Show | a0001c0003t0001g0031 a0001c0003t0001g0059 a0001c0003t0001g0121 others(56): Show |
59 | 92 | 0.6413 | -9 | c.124 others(28): Show |
UNC5C | ENSG00000182168.16 | transcript | ENST00000453304.6 | protein_coding | 1/15 | chr4 | TogoVar | |||||||
UNC5D_chr8_35230475_35801540 | 35249559 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00597.hp2 HG02083.hp1 HG02896.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(2): Show | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0052 others(4): Show |
7 | 13 | 0.5385 | -9 | c.103 others(28): Show |
UNC5D | ENSG00000156687.11 | transcript | ENST00000404895.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
UNC5D_chr8_35230475_35801540 | 35300446 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01123.hp1 HG01928.hp1 HG02622.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0013a0001c0002t0015others(2): Show | a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0002t0013g0062 others(3): Show |
6 | 7 | 0.8571 | -9 | c.103 others(28): Show |
UNC5D | ENSG00000156687.11 | transcript | ENST00000404895.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
UNC5D_chr8_35230475_35801540 | 35354051 | TAATATAT others(2): Show |
T | intron_variant | MODIFIER | HG02615.hp1 HG03471.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0003 | a0001c0002t0001g0021 a0001c0003t0003g0022 |
2 | 64 | 0.0313 | -9 | c.103 others(30): Show |
UNC5D | ENSG00000156687.11 | transcript | ENST00000404895.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
UNC5D_chr8_35230475_35801540 | 35498079 | CAAAACAA others(2): Show |
C | intron_variant | MODIFIER | HG01123.hp1 HG02083.hp2 HG02630.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0010a0001c0002t0009others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0014 others(7): Show |
10 | 37 | 0.2703 | -9 | c.104 others(28): Show |
UNC5D | ENSG00000156687.11 | transcript | ENST00000404895.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
UNC79_chr14_93425939_93712876 | 93467628 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00673.hp2 HG00735.hp2 others(23): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0020a0001c0028others(4): Show | a0001c0001t0001a0001c0020t0001a0001c0028t0001others(4): Show | a0001c0001t0001g0006 a0001c0001t0001g0026 a0001c0001t0001g0031 others(23): Show |
26 | 33 | 0.7879 | -9 | c.23- others(20): Show |
UNC79 | ENSG00000133958.14 | transcript | ENST00000695012.1 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
UNC79_chr14_93425939_93712876 | 93550514 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02717.hp1 HG02723.hp2 HG02818.hp1 others(5): Show |
a0001a0009 | a0001c0002a0001c0009a0001c0034others(1): Show | a0001c0002t0001a0001c0009t0001a0001c0034t0001others(1): Show | a0001c0002t0001g0015 a0001c0002t0001g0021 a0001c0002t0001g0022 others(5): Show |
8 | 172 | 0.0465 | -9 | c.175 others(28): Show |
UNC79 | ENSG00000133958.14 | transcript | ENST00000695012.1 | protein_coding | 14/51 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
UNC79_chr14_93425939_93712876 | 93558593 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG02647.hp1 HG02717.hp1 HG02970.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0034 | a0001c0001t0001a0001c0002t0001a0001c0034t0001 | a0001c0001t0001g0049 a0001c0002t0001g0017 a0001c0002t0001g0021 others(3): Show |
6 | 8 | 0.7500 | -9 | c.175 others(30): Show |
UNC79 | ENSG00000133958.14 | transcript | ENST00000695012.1 | protein_coding | 14/51 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
UNC80_chr2_209766832_210004296 | 209775313 | TCTTTATT others(2): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 |
a0001 | a0001c0005a0001c0043 | a0001c0005t0001a0001c0005t0007a0001c0043t0001 | a0001c0005t0001g0187 a0001c0005t0007g0004 a0001c0043t0001g0188 |
3 | 186 | 0.0161 | -9 | c.142 others(24): Show |
UNC80 | ENSG00000144406.19 | transcript | ENST00000673920.1 | protein_coding | 2/64 | chr2 | TogoVar | |||||||
UNC80_chr2_209766832_210004296 | 209844446 | TTTTCTTT others(2): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG02559.hp2 HG02886.hp1 others(3): Show |
a0001a0002a0013 | a0001c0005a0001c0009a0001c0013others(3): Show | a0001c0005t0001a0001c0009t0001a0001c0013t0002others(3): Show | a0001c0005t0001g0187 a0001c0009t0001g0025 a0001c0013t0002g0183 others(3): Show |
6 | 174 | 0.0345 | -9 | c.345 others(28): Show |
UNC80 | ENSG00000144406.19 | transcript | ENST00000673920.1 | protein_coding | 21/64 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UNC93A_chr6_167286315_167321014 | 167307576 | GGTTGAGA others(2): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02258.hp1 others(15): Show |
a0001a0009a0013others(2): Show | a0001c0001a0009c0012a0013c0042others(2): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0011others(5): Show | a0001c0001t0004g0064 a0001c0001t0004g0209 a0001c0001t0004g0329 others(14): Show |
18 | 446 | 0.0404 | -9 | c.977 others(24): Show |
UNC93A | ENSG00000112494.10 | transcript | ENST00000230256.8 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
UNKL_chr16_1358205_1419704 | 1400417 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG01169.hp2 HG01884.hp1 others(6): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0004g0192 others(6): Show |
9 | 10 | 0.9000 | -9 | c.599 others(24): Show |
UNKL | ENSG00000059145.19 | transcript | ENST00000389221.9 | protein_coding | 4/14 | chr16 | TogoVar | |||||||
UNKL_chr16_1358205_1419704 | 1419313 | CTTTTTTT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(279): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0003a0001c0007others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(82): Show | a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0032 others(277): Show |
282 | 320 | 0.8813 | -9 | c.-46 others(20): Show |
UNKL | ENSG00000059145.19 | transcript | ENST00000389221.9 | protein_coding | 4610 | chr16 | TogoVar | |||||||
UNK_chr17_75779806_75830799 | 75782993 | TCAAAAAA others(2): Show |
T | upstream_gene_variant | MODIFIER | HG03225.hp1 HG03486.hp1 HG03486.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0041 a0001c0002t0001g0061 a0001c0002t0001g0062 others(1): Show |
4 | 132 | 0.0303 | -9 | c.-18 others(20): Show |
UNK | ENSG00000132478.10 | transcript | ENST00000589666.6 | protein_coding | 1812 | chr17 | TogoVar | |||||||
UPF2_chr10_11915022_12047809 | 11915372 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00609.hp2 HG01081.hp2 others(65): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 others(64): Show |
68 | 86 | 0.7907 | -9 | c.*59 others(20): Show |
UPF2 | ENSG00000151461.20 | transcript | ENST00000357604.10 | protein_coding | 4649 | chr10 | TogoVar | |||||||
UPF2_chr10_11915022_12047809 | 11938853 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02135.hp2 HG02486.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0010 a0001c0001t0003g0209 a0001c0001t0003g0210 others(4): Show |
7 | 69 | 0.1014 | -9 | c.337 others(28): Show |
UPF2 | ENSG00000151461.20 | transcript | ENST00000357604.10 | protein_coding | 18/21 | chr10 | TogoVar | |||||||
UPF3A_chr13_114276601_114310817 | 114281899 | TGGAGGGA others(2): Show |
T | intron_variant | MODIFIER | HG01358.hp2 HG01433.hp1 HG02258.hp2 others(8): Show |
a0001a0002a0009others(1): Show | a0001c0001a0002c0002a0009c0010others(1): Show | a0001c0001t0001a0002c0002t0001a0009c0010t0001others(1): Show | a0001c0001t0001g0045 a0001c0001t0001g0371 a0001c0001t0001g0372 others(5): Show |
11 | 202 | 0.0545 | -9 | c.207 others(22): Show |
UPF3A | ENSG00000169062.15 | transcript | ENST00000375299.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UPK1B_chr3_119168598_119210143 | 119175012 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG00639.hp2 HG00673.hp1 others(32): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0024 others(29): Show |
35 | 46 | 0.7609 | -9 | c.-29 others(26): Show |
UPK1B | ENSG00000114638.8 | transcript | ENST00000264234.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
UPK1B_chr3_119168598_119210143 | 119179805 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00544.hp2 others(110): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 others(93): Show |
113 | 139 | 0.8130 | -9 | c.-29 others(26): Show |
UPK1B | ENSG00000114638.8 | transcript | ENST00000264234.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
UPK3BL1_chr7_102632025_102647791 | 102637990 | ACCCCTCC others(2): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG01256.hp1 HG01433.hp1 others(13): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0003a0001c0003t0002a0001c0003t0003others(1): Show | a0001c0001t0003g0047 a0001c0001t0003g0053 a0001c0001t0003g0054 others(6): Show |
16 | 140 | 0.1143 | -9 | c.684 others(24): Show |
UPK3BL1 | ENSG00000267368.1 | transcript | ENST00000340457.8 | protein_coding | 5/5 | chr7 | TogoVar | |||||||
UPK3BL2_chr7_102532919_102548696 | 102538882 | ACCCCTCC others(2): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG01071.hp2 HG02004.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(1): Show |
8 | 180 | 0.0444 | -9 | c.684 others(24): Show |
UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 5/5 | chr7 | TogoVar | |||||||
UPK3BL2_chr7_102532919_102548696 | 102544127 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG01069.hp2 others(23): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0002c0002t0003 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(2): Show |
26 | 28 | 0.9286 | -9 | c.-50 others(18): Show |
UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 432 | chr7 | TogoVar | |||||||
UQCC4_chr16_1414752_1425747 | 1419313 | CTTTTTTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(323): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0002g0006 others(5): Show |
326 | 362 | 0.9006 | -9 | c.*92 others(18): Show |
UQCC4 | ENSG00000174109.5 | transcript | ENST00000442039.3 | protein_coding | 438 | chr16 | TogoVar | |||||||
UQCC6_chr12_103945194_103962215 | 103961537 | TTTGTTGT others(2): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(140): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0001g0022 others(23): Show |
143 | 246 | 0.5813 | -9 | c.-44 others(20): Show |
UQCC6 | ENSG00000204954.10 | transcript | ENST00000378090.9 | protein_coding | 4323 | chr12 | TogoVar | |||||||
URAD_chr13_27972717_27993693 | 27981019 | TCTCTCTC others(2): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00609.hp2 HG00733.hp1 others(56): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0002a0002c0002t0001a0002c0002t0004others(2): Show | a0001c0001t0002g0021 a0001c0001t0002g0129 a0002c0002t0001g0004 others(13): Show |
59 | 426 | 0.1385 | -9 | c.176 others(26): Show |
URAD | ENSG00000183463.7 | transcript | ENST00000332715.6 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
URM1_chr9_128366374_128397016 | 128395694 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG02027.hp1 others(42): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0011others(1): Show | a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0008 others(18): Show |
45 | 106 | 0.4245 | -9 | c.*59 others(20): Show |
URM1 | ENSG00000167118.11 | transcript | ENST00000372853.9 | protein_coding | 3679 | chr9 | TogoVar | |||||||
UROS_chr10_125783586_125828258 | 125817224 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG02300.hp2 HG02818.hp2 HG02886.hp2 others(6): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0001a0002c0002t0001a0005c0005t0001 | a0001c0001t0001g0022 a0001c0001t0001g0139 a0001c0001t0001g0236 others(4): Show |
9 | 91 | 0.0989 | -9 | c.-26 others(24): Show |
UROS | ENSG00000188690.16 | transcript | ENST00000368797.10 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
UROS_chr10_125783586_125828258 | 125818492 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG02080.hp1 HG02155.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0051 a0002c0002t0004g0239 a0002c0002t0004g0240 others(1): Show |
5 | 150 | 0.0333 | -9 | c.-26 others(26): Show |
UROS | ENSG00000188690.16 | transcript | ENST00000368797.10 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
USF2_chr19_35263962_35284821 | 35268513 | GCGCCGCC others(2): Show |
G | upstream_gene_variant | MODIFIER | HG02258.hp1 HG02630.hp1 HG02723.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0012others(1): Show | a0001c0001t0003g0022 a0001c0001t0007g0022 a0001c0001t0012g0022 others(1): Show |
5 | 416 | 0.0120 | -9 | c.-58 others(18): Show |
USF2 | ENSG00000105698.16 | transcript | ENST00000222305.8 | protein_coding | 448 | chr19 | TogoVar | |||||||
USF2_chr19_35263962_35284821 | 35268855 | GGCGGCTG others(2): Show |
G | upstream_gene_variant | MODIFIER | HG01943.hp1 HG01975.hp2 HG01993.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0005 a0001c0001t0008g0065 |
8 | 424 | 0.0189 | -9 | c.-24 others(18): Show |
USF2 | ENSG00000105698.16 | transcript | ENST00000222305.8 | protein_coding | 106 | chr19 | TogoVar | |||||||
USF3_chr3_113643385_113701642 | 113657263 | TTGCTGCT others(2): Show |
T | disruptive_inframe_deletion | MODERATE | HG00140.hp1 HG00323.hp2 HG00423.hp2 others(84): Show |
a0002a0005a0012 | a0002c0003a0005c0007a0005c0008others(2): Show | a0002c0003t0001a0002c0003t0008a0002c0003t0014others(16): Show | a0002c0003t0001g0005 a0002c0003t0001g0015 a0002c0003t0001g0016 others(78): Show |
87 | 117 | 0.7436 | -9 | c.441 others(18): Show |
p.Gln others(15): Show |
USF3 | ENSG00000176542.10 | transcript | ENST00000316407.9 | protein_coding | 7/7 | 4825/13704 | 4410/6738 | 1470/2245 | chr3 | TogoVar |