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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
IGF2R_chr6_159964082_160116504 | 160100723 | CCTTTTTT others(43): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG02165.hp1 HG03669.hp2 others(1): Show |
a0001a0004 | a0001c0002a0001c0004a0004c0006 | a0001c0002t0076a0001c0004t0048a0004c0006t0002 | a0001c0002t0076g0293 a0001c0004t0048g0174 a0004c0006t0002g0076 others(1): Show |
4 | 24 | 0.1667 | -50 | c.684 others(69): Show |
IGF2R | ENSG00000197081.16 | transcript | ENST00000356956.6 | protein_coding | 45/47 | chr6 | TogoVar | |||||||
IGSF21_chr1_18102798_18383483 | 18273445 | ACTTTCTT others(43): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG01070.hp2 others(23): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0010 a0001c0001t0001g0026 a0001c0001t0001g0029 others(23): Show |
26 | 217 | 0.1198 | -50 | c.184 others(69): Show |
IGSF21 | ENSG00000117154.12 | transcript | ENST00000251296.4 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
IGSF21_chr1_18102798_18383483 | 18354841 | AGCTTTCC others(43): Show |
A | intron_variant | MODIFIER | HG00673.hp2 HG00733.hp2 HG00738.hp1 others(81): Show |
a0001a0003 | a0001c0001a0001c0004a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0025 others(81): Show |
84 | 246 | 0.3415 | -50 | c.425 others(67): Show |
IGSF21 | ENSG00000117154.12 | transcript | ENST00000251296.4 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
IL19_chr1_206765773_206847981 | 206781945 | AGTTATAT others(43): Show |
A | intron_variant | MODIFIER | HG01175.hp2 HG01346.hp2 HG01978.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0002others(2): Show | a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0151 others(11): Show |
14 | 359 | 0.0390 | -50 | c.-14 others(71): Show |
IL19 | ENSG00000142224.18 | transcript | ENST00000659997.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
IL2RA_chr10_6005689_6067367 | 6031444 | ATATATAT others(43): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02155.hp1 HG03139.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009 | a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0200 others(6): Show |
10 | 412 | 0.0243 | -50 | c.65- others(65): Show |
IL2RA | ENSG00000134460.19 | transcript | ENST00000379959.8 | protein_coding | 1/7 | chr10 | TogoVar | |||||||
IMMP2L_chr7_110657644_111567492 | 111281199 | AAAGAAAG others(43): Show |
A | intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 84 | 0.0119 | -50 | c.239 others(71): Show |
IMMP2L | ENSG00000184903.10 | transcript | ENST00000405709.7 | protein_coding | 3/5 | chr7 | TogoVar | |||||||
IMPA1_chr8_81651914_81691325 | 81684877 | CTATGTAT others(43): Show |
C | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0221 | 1 | 378 | 0.0026 | -50 | c.-25 others(67): Show |
IMPA1 | ENSG00000133731.10 | transcript | ENST00000256108.10 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
INO80_chr15_40973880_41121280 | 41041884 | GAGTACAG others(43): Show |
G | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0088 | 1 | 280 | 0.0036 | -50 | c.290 others(69): Show |
INO80 | ENSG00000128908.19 | transcript | ENST00000648947.1 | protein_coding | 24/35 | chr15 | TogoVar | |||||||
INPP5F_chr10_119721050_119834147 | 119794700 | ACCCCCCA others(43): Show |
A | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0003 | a0001c0003t0018 | a0001c0003t0018g0003 | 1 | 326 | 0.0031 | -50 | c.670 others(67): Show |
INPP5F | ENSG00000198825.15 | transcript | ENST00000650623.2 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
INSC_chr11_15109923_15252208 | 15229963 | TATATATA others(43): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG01081.hp2 HG01256.hp1 others(48): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0012others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0014 others(46): Show |
51 | 254 | 0.2008 | -50 | c.117 others(69): Show |
INSC | ENSG00000188487.12 | transcript | ENST00000379556.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
INSR_chr19_7107265_7299414 | 7124562 | AAAAAAAA others(43): Show |
A | intron_variant | MODIFIER | NA18968.hp1 NA19000.hp1 NA19066.hp1 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0025a0001c0003t0080a0001c0004t0025 | a0001c0003t0025g0077 a0001c0003t0080g0091 a0001c0004t0025g0047 |
3 | 294 | 0.0102 | -50 | c.325 others(67): Show |
INSR | ENSG00000171105.14 | transcript | ENST00000302850.10 | protein_coding | 17/21 | chr19 | TogoVar | |||||||
INTS9_chr8_28762661_28894969 | 28881476 | AGGGGGGG others(43): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG01255.hp1 HG01261.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0001t0001g0287 others(1): Show |
4 | 53 | 0.0755 | -50 | c.9+8 others(63): Show |
INTS9 | ENSG00000104299.15 | transcript | ENST00000521022.6 | protein_coding | 1/16 | chr8 | TogoVar | |||||||
IPCEF1_chr6_154149496_154361803 | 154357869 | TATATATA others(43): Show |
T | upstream_gene_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0187 | 1 | 248 | 0.0040 | -50 | c.-13 others(61): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 1067 | chr6 | TogoVar | |||||||
IPCEF1_chr6_154149496_154361803 | 154357908 | TATATATA others(43): Show |
T | upstream_gene_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0212 | 1 | 261 | 0.0038 | -50 | c.-13 others(61): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 1106 | chr6 | TogoVar | |||||||
IQCE_chr7_2553979_2619728 | 2577665 | GGGGACGT others(43): Show |
G | intron_variant | MODIFIER | HG01255.hp1 HG01433.hp2 HG03654.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0026a0001c0001t0028a0001c0001t0031others(1): Show | a0001c0001t0026g0373 a0001c0001t0028g0311 a0001c0001t0031g0141 others(2): Show |
5 | 414 | 0.0121 | -50 | c.466 others(65): Show |
IQCE | ENSG00000106012.19 | transcript | ENST00000402050.7 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
IQCM_chr4_149346709_149820843 | 149582307 | CATATATA others(43): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00642.hp1 others(43): Show |
a0001a0004a0005others(2): Show | a0001c0001a0001c0002a0004c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0044 a0001c0001t0001g0068 a0001c0001t0001g0092 others(43): Show |
46 | 60 | 0.7667 | -50 | c.749 others(67): Show |
IQCM | ENSG00000234828.9 | transcript | ENST00000636793.2 | protein_coding | 9/13 | chr4 | TogoVar | |||||||
IQGAP1_chr15_90383242_90507239 | 90422610 | ATATATAT others(43): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02809.hp1 NA20129.hp2 |
a0001a0006 | a0001c0006a0006c0015 | a0001c0006t0009a0001c0006t0026a0006c0015t0009 | a0001c0006t0009g0102 a0001c0006t0026g0103 a0006c0015t0009g0104 |
3 | 358 | 0.0084 | -50 | c.156 others(67): Show |
IQGAP1 | ENSG00000140575.13 | transcript | ENST00000268182.10 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
IQSEC3_chr12_61767_183455 | 177126 | CCAGGCAG others(43): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02055.hp2 HG02896.hp1 HG02976.hp1 others(1): Show |
a0001a0003 | a0001c0003a0001c0004a0003c0005others(1): Show | a0001c0003t0012a0001c0004t0012a0003c0005t0012others(1): Show | a0001c0003t0012g0049 a0001c0004t0012g0022 a0003c0005t0012g0074 others(1): Show |
4 | 270 | 0.0148 | -50 | c.*21 others(61): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 14/14 | 2132 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
IQSEC3_chr12_61767_183455 | 177165 | ACTTACCA others(43): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0019 | a0001c0019t0001 | a0001c0019t0001g0246 | 1 | 255 | 0.0039 | -50 | c.*21 others(61): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 14/14 | 2151 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
IQSEC3_chr12_61767_183455 | 177184 | GACCCCGT others(43): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00733.hp1 HG01243.hp1 HG01496.hp1 others(26): Show |
a0001a0002a0003others(5): Show | a0001c0003a0001c0004a0001c0043others(8): Show | a0001c0003t0004a0001c0004t0004a0001c0004t0038others(17): Show | a0001c0003t0004g0168 a0001c0004t0004g0031 a0001c0004t0038g0021 others(26): Show |
29 | 280 | 0.1036 | -50 | c.*22 others(61): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 14/14 | 2201 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ITFG1_chr16_47149391_47466063 | 47181362 | GCCCCCCG others(43): Show |
G | intron_variant | MODIFIER | HG02280.hp1 HG02970.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 |
3 | 108 | 0.0278 | -50 | c.145 others(71): Show |
ITFG1 | ENSG00000129636.13 | transcript | ENST00000320640.11 | protein_coding | 14/17 | chr16 | TogoVar | |||||||
ITGA9_chr3_37447141_37828507 | 37512120 | CTTTCTTT others(43): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00741.hp2 HG01243.hp1 others(9): Show |
a0001 | a0001c0001a0001c0005a0001c0015 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0014 a0001c0001t0004g0034 a0001c0001t0004g0074 others(9): Show |
12 | 122 | 0.0984 | -50 | c.898 others(67): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 8/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITGAM_chr16_31254975_31337877 | 31334554 | CCTCCTTC others(43): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG01256.hp1 HG01258.hp1 others(2): Show |
a0004 | a0004c0006 | a0004c0006t0003 | a0004c0006t0003g0005 a0004c0006t0003g0008 a0004c0006t0003g0009 others(2): Show |
5 | 239 | 0.0209 | -50 | c.*28 others(61): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 1678 | chr16 | TogoVar | |||||||
ITIH2_chr10_7698316_7754520 | 7737649 | TATATTAT others(43): Show |
T | intron_variant | MODIFIER | HG01123.hp2 HG01346.hp2 HG01993.hp1 others(5): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0033 a0002c0003t0001g0034 a0002c0003t0001g0035 others(5): Show |
8 | 356 | 0.0225 | -50 | c.195 others(67): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ITIH2_chr10_7698316_7754520 | 7737660 | CTATATTA others(43): Show |
C | intron_variant | MODIFIER | HG02129.hp2 HG02280.hp1 HG02280.hp2 others(8): Show |
a0001a0007a0011 | a0001c0001a0001c0002a0007c0010others(1): Show | a0001c0001t0001a0001c0002t0001a0007c0010t0001others(1): Show | a0001c0001t0001g0155 a0001c0001t0001g0285 a0001c0002t0001g0003 others(6): Show |
11 | 317 | 0.0347 | -50 | c.195 others(67): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ITIH5_chr10_7554270_7671966 | 7556067 | CATATATA others(43): Show |
C | downstream_gene_variant | MODIFIER | HG01081.hp2 HG03516.hp2 |
a0005a0015 | a0005c0013a0015c0019 | a0005c0013t0036a0015c0019t0020 | a0005c0013t0036g0251 a0015c0019t0020g0101 |
2 | 204 | 0.0098 | -50 | c.*69 others(61): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 3202 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7644852 | CATATGTA others(43): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00621.hp1 HG01070.hp1 others(40): Show |
a0001a0002a0003others(8): Show | a0001c0006a0002c0003a0003c0005others(8): Show | a0001c0006t0001a0001c0006t0018a0002c0003t0001others(14): Show | a0001c0006t0001g0104 a0001c0006t0001g0107 a0001c0006t0001g0117 others(40): Show |
43 | 340 | 0.1265 | -50 | c.136 others(67): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 2/13 | chr10 | TogoVar | |||||||
ITPR2_chr12_26330352_26838194 | 26802559 | CTATATAT others(43): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG00741.hp1 others(29): Show |
a0001a0002a0011 | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0017a0001c0001t0052others(24): Show | a0001c0001t0001g0008 a0001c0001t0001g0041 a0001c0001t0001g0052 others(29): Show |
32 | 140 | 0.2286 | -50 | c.93- others(67): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 1/56 | chr12 | TogoVar | |||||||
ITSN2_chr2_24197864_24365536 | 24251347 | ATGTGTGT others(43): Show |
A | intron_variant | MODIFIER | HG01074.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0177 | 1 | 210 | 0.0048 | -50 | c.312 others(67): Show |
ITSN2 | ENSG00000198399.16 | transcript | ENST00000355123.9 | protein_coding | 25/39 | chr2 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132116693 | GATGTGTG others(43): Show |
G | intron_variant | MODIFIER | NA20805.hp2 | a0004 | a0004c0011 | a0004c0011t0001 | a0004c0011t0001g0119 | 1 | 156 | 0.0064 | -50 | c.136 others(65): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 2/23 | chr10 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132159606 | ATGTGATG others(43): Show |
A | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0017 | a0001c0017t0029 | a0001c0017t0029g0012 | 1 | 150 | 0.0067 | -50 | c.222 others(69): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132180530 | TGTGTGTG others(43): Show |
T | intron_variant | MODIFIER | HG01106.hp2 HG01109.hp1 HG01255.hp1 others(7): Show |
a0001a0002a0004others(2): Show | a0001c0006a0002c0005a0004c0046others(3): Show | a0001c0006t0033a0002c0005t0010a0004c0046t0007others(5): Show | a0001c0006t0033g0057 a0002c0005t0010g0096 a0004c0046t0007g0091 others(7): Show |
10 | 154 | 0.0649 | -50 | c.*11 others(71): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JMY_chr5_79231131_79332211 | 79270564 | ATTTAAAA others(43): Show |
A | intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0279 | 1 | 209 | 0.0048 | -50 | c.103 others(69): Show |
JMY | ENSG00000152409.9 | transcript | ENST00000396137.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KATNAL1_chr13_30197630_30312551 | 30270029 | TGTCAGCC others(43): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02280.hp2 HG02895.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0033a0001c0001t0051a0001c0001t0096others(2): Show | a0001c0001t0033g0033 a0001c0001t0033g0034 a0001c0001t0051g0352 others(4): Show |
7 | 311 | 0.0225 | -50 | c.323 others(68): Show |
KATNAL1 | ENSG00000102781.14 | transcript | ENST00000380615.8 | protein_coding | 3/10 | chr13 | TogoVar | |||||||
KATNB1_chr16_57730770_57762244 | 57745294 | ACCTGAGG others(43): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(340): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0012 others(220): Show |
343 | 400 | 0.8575 | -50 | c.289 others(65): Show |
KATNB1 | ENSG00000140854.13 | transcript | ENST00000379661.8 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 15050016 | CAGAGTAG others(43): Show |
C | intron_variant | MODIFIER | HG01258.hp2 HG02055.hp1 HG02109.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(1): Show | a0001c0001t0002g0006 a0001c0001t0002g0046 a0001c0001t0002g0092 others(9): Show |
12 | 146 | 0.0822 | -50 | c.726 others(67): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KCNH7_chr2_162366407_162843767 | 162752903 | AAAAAGAA others(43): Show |
A | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0042 | 1 | 10 | 0.1000 | -50 | c.307 others(69): Show |
KCNH7 | ENSG00000184611.14 | transcript | ENST00000332142.10 | protein_coding | 2/15 | chr2 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21234476 | GTACATAT others(43): Show |
G | intron_variant | MODIFIER | HG01433.hp2 HG02647.hp2 HG02886.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0001g0064 a0001c0001t0001g0070 a0001c0001t0004g0025 others(5): Show |
8 | 52 | 0.1538 | -50 | c.62- others(69): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21714786 | ATTATTTT others(43): Show |
A | intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0050 | 1 | 66 | 0.0152 | -50 | c.61+ others(69): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNJ6_chr21_37602373_37921457 | 37717340 | TGGAGGCA others(43): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00558.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0012a0001c0001t0075a0001c0001t0112others(15): Show | a0001c0001t0012g0002 a0001c0001t0075g0106 a0001c0001t0112g0074 others(15): Show |
18 | 196 | 0.0918 | -50 | c.26- others(65): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 2/3 | chr21 | TogoVar | |||||||
KCNJ6_chr21_37602373_37921457 | 37717427 | GTGGGTGT others(43): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp2 HG02083.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0020a0001c0003t0054a0001c0003t0116 | a0001c0001t0020g0104 a0001c0003t0054g0005 a0001c0003t0116g0116 |
3 | 196 | 0.0153 | -50 | c.26- others(65): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 2/3 | chr21 | TogoVar | |||||||
KCNMB1_chr5_170369671_170394367 | 170393942 | TTAAAAAA others(43): Show |
T | upstream_gene_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0022 | 1 | 430 | 0.0023 | -50 | c.-47 others(61): Show |
KCNMB1 | ENSG00000145936.9 | transcript | ENST00000274629.9 | protein_coding | 4576 | chr5 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178759725 | TACACATA others(43): Show |
T | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0202 | 1 | 217 | 0.0046 | -50 | c.-67 others(69): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNQ2_chr20_63395208_63477655 | 63399163 | GTGTGGGG others(43): Show |
G | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02559.hp2 HG02896.hp2 others(3): Show |
a0001a0004 | a0001c0002a0004c0025 | a0001c0002t0021a0001c0002t0076a0004c0025t0077 | a0001c0002t0021g0028 a0001c0002t0021g0106 a0001c0002t0021g0107 others(3): Show |
6 | 328 | 0.0183 | -50 | c.*74 others(61): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 1044 | chr20 | TogoVar | |||||||
KCP_chr7_128871865_128915709 | 128896023 | GGGTCTGG others(43): Show |
G | intron_variant | MODIFIER | HG02922.hp2 | a0009 | a0009c0012 | a0009c0012t0002 | a0009c0012t0002g0137 | 1 | 370 | 0.0027 | -50 | c.832 others(67): Show |
KCP | ENSG00000135253.16 | transcript | ENST00000610776.5 | protein_coding | 8/39 | chr7 | TogoVar | |||||||
KCTD8_chr4_44168903_44453809 | 44181176 | TGGTCTCC others(43): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00423.hp1 others(102): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0018 others(102): Show |
105 | 285 | 0.3684 | -50 | c.962 others(67): Show |
KCTD8 | ENSG00000183783.7 | transcript | ENST00000360029.4 | protein_coding | 1/1 | chr4 | TogoVar | |||||||
KDM6A_chrX_44868188_45117779 | 45040661 | CCGGGCGG others(43): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG01168.hp1 HG01169.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0115 others(3): Show |
6 | 197 | 0.0305 | -50 | c.654 others(67): Show |
KDM6A | ENSG00000147050.18 | transcript | ENST00000611820.5 | protein_coding | 8/29 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
KDM6A_chrX_44868188_45117779 | 45041090 | ACCTCCCG others(43): Show |
A | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0123 | 1 | 196 | 0.0051 | -50 | c.654 others(67): Show |
KDM6A | ENSG00000147050.18 | transcript | ENST00000611820.5 | protein_coding | 8/29 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
KDM7A_chr7_140079746_140181983 | 140100661 | TATATATA others(43): Show |
T | intron_variant | MODIFIER | HG02280.hp2 HG02717.hp1 HG02723.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0016a0001c0001t0021others(3): Show | a0001c0001t0001g0009 a0001c0001t0001g0041 a0001c0001t0001g0057 others(10): Show |
15 | 340 | 0.0441 | -50 | c.163 others(67): Show |
KDM7A | ENSG00000006459.11 | transcript | ENST00000397560.7 | protein_coding | 12/19 | chr7 | TogoVar | |||||||
KDM7A_chr7_140079746_140181983 | 140100693 | TATATATA others(43): Show |
T | intron_variant | MODIFIER | HG01106.hp1 HG01884.hp2 HG01952.hp1 others(21): Show |
a0001a0002 | a0001c0001a0001c0009a0001c0013others(2): Show | a0001c0001t0001a0001c0001t0034a0001c0001t0037others(8): Show | a0001c0001t0001g0032 a0001c0001t0001g0066 a0001c0001t0001g0074 others(21): Show |
24 | 339 | 0.0708 | -50 | c.163 others(67): Show |
KDM7A | ENSG00000006459.11 | transcript | ENST00000397560.7 | protein_coding | 12/19 | chr7 | TogoVar |