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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
IMPG1_chr6_75916114_76077662 | 75924500 | A | ATATAATA others(20): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(10): Show |
a0007a0012 | a0007c0007a0012c0012 | a0007c0007t0004a0012c0012t0004 | a0007c0007t0004g0001 a0007c0007t0004g0008 a0007c0007t0004g0058 others(9): Show |
13 | 300 | 0.0433 | 27 | c.224 others(44): Show |
IMPG1 | ENSG00000112706.12 | transcript | ENST00000369950.8 | protein_coding | 15/16 | chr6 | TogoVar | |||||||
IMPG1_chr6_75916114_76077662 | 75973246 | T | TCCGGATT others(20): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00597.hp2 HG00621.hp1 others(41): Show |
a0001a0003a0009others(3): Show | a0001c0001a0003c0003a0009c0009others(3): Show | a0001c0001t0001a0003c0003t0001a0003c0003t0002others(5): Show | a0001c0001t0001g0004 a0001c0001t0001g0035 a0001c0001t0001g0042 others(41): Show |
44 | 299 | 0.1472 | 27 | c.129 others(48): Show |
IMPG1 | ENSG00000112706.12 | transcript | ENST00000369950.8 | protein_coding | 12/16 | chr6 | TogoVar | |||||||
IMPG1_chr6_75916114_76077662 | 75974393 | T | TTCCTTCC others(20): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0005 | a0005c0006 | a0005c0006t0003 | a0005c0006t0003g0106 | 1 | 227 | 0.0044 | 27 | c.129 others(48): Show |
IMPG1 | ENSG00000112706.12 | transcript | ENST00000369950.8 | protein_coding | 12/16 | chr6 | TogoVar | |||||||
IMPG1_chr6_75916114_76077662 | 76064140 | A | AAGGACAG others(20): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0005 | a0005c0006 | a0005c0006t0003 | a0005c0006t0003g0291 | 1 | 300 | 0.0033 | 27 | c.67+ others(42): Show |
IMPG1 | ENSG00000112706.12 | transcript | ENST00000369950.8 | protein_coding | 1/16 | chr6 | TogoVar | |||||||
INAVA_chr1_200889900_200920742 | 200917848 | T | TCTCTCTC others(20): Show |
downstream_gene_variant | MODIFIER | HG01928.hp1 | a0009 | a0009c0017 | a0009c0017t0005 | a0009c0017t0005g0154 | 1 | 422 | 0.0024 | 27 | c.*42 others(38): Show |
INAVA | ENSG00000163362.11 | transcript | ENST00000413687.3 | protein_coding | 2107 | chr1 | TogoVar | |||||||
INIP_chr9_112678926_112723117 | 112695811 | A | AAGAAGGA others(20): Show |
intron_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 344 | 0.0029 | 27 | c.26- others(42): Show |
INIP | ENSG00000148153.14 | transcript | ENST00000374242.9 | protein_coding | 2/4 | chr9 | TogoVar | |||||||
INPP4B_chr4_142018160_142851301 | 142268322 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02630.hp2 HG03225.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0011a0002c0004 | a0001c0001t0003a0001c0001t0008a0001c0001t0018others(3): Show | a0001c0001t0003g0045 a0001c0001t0008g0057 a0001c0001t0008g0090 others(4): Show |
7 | 13 | 0.5385 | 27 | c.615 others(44): Show |
INPP4B | ENSG00000109452.13 | transcript | ENST00000262992.9 | protein_coding | 10/25 | chr4 | TogoVar | |||||||
INPP5B_chr1_37855697_37952053 | 37917339 | T | TATATATA others(20): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 341 | 0.0029 | 27 | c.532 others(46): Show |
INPP5B | ENSG00000204084.14 | transcript | ENST00000373024.8 | protein_coding | 7/23 | chr1 | TogoVar | |||||||
INPP5B_chr1_37855697_37952053 | 37941958 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0295 | 1 | 72 | 0.0139 | 27 | c.281 others(44): Show |
INPP5B | ENSG00000204084.14 | transcript | ENST00000373024.8 | protein_coding | 5/23 | chr1 | TogoVar | |||||||
INPP5B_chr1_37855697_37952053 | 37941958 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0077 | 1 | 72 | 0.0139 | 27 | c.281 others(44): Show |
INPP5B | ENSG00000204084.14 | transcript | ENST00000373024.8 | protein_coding | 5/23 | chr1 | TogoVar | |||||||
INPP5B_chr1_37855697_37952053 | 37941958 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0195 | 1 | 72 | 0.0139 | 27 | c.281 others(44): Show |
INPP5B | ENSG00000204084.14 | transcript | ENST00000373024.8 | protein_coding | 5/23 | chr1 | TogoVar | |||||||
INPP5B_chr1_37855697_37952053 | 37941958 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | NA18957.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0056 | 1 | 72 | 0.0139 | 27 | c.281 others(44): Show |
INPP5B | ENSG00000204084.14 | transcript | ENST00000373024.8 | protein_coding | 5/23 | chr1 | TogoVar | |||||||
INPP5B_chr1_37855697_37952053 | 37941958 | A | AAAAAAAT others(20): Show |
intron_variant | MODIFIER | HG01884.hp2 NA21309.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0091 a0002c0002t0002g0092 |
2 | 73 | 0.0274 | 27 | c.281 others(44): Show |
INPP5B | ENSG00000204084.14 | transcript | ENST00000373024.8 | protein_coding | 5/23 | chr1 | TogoVar | |||||||
INPP5D_chr2_233055342_233212903 | 233137985 | G | GTATTAAT others(20): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(138): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0009 others(138): Show |
141 | 232 | 0.6078 | 27 | c.666 others(44): Show |
INPP5D | ENSG00000168918.14 | transcript | ENST00000445964.6 | protein_coding | 5/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
INPP5F_chr10_119721050_119834147 | 119785286 | G | GTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0306 | 1 | 194 | 0.0052 | 27 | c.315 others(44): Show |
INPP5F | ENSG00000198825.15 | transcript | ENST00000650623.2 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
INSC_chr11_15109923_15252208 | 15230013 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0009 | a0001c0009t0010 | a0001c0009t0010g0258 | 1 | 224 | 0.0045 | 27 | c.117 others(46): Show |
INSC | ENSG00000188487.12 | transcript | ENST00000379556.8 | protein_coding | 9/12 | chr11 | TogoVar | |||||||
INSIG2_chr2_118083471_118115997 | 118094367 | A | AGATGATG others(20): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0154 | 1 | 23 | 0.0435 | 27 | c.-13 others(46): Show |
INSIG2 | ENSG00000125629.16 | transcript | ENST00000245787.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
INSM2_chr14_35529164_35542054 | 35541040 | A | ATTTTTTT others(20): Show |
downstream_gene_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 131 | 0.0076 | 27 | c.*50 others(38): Show |
INSM2 | ENSG00000168348.4 | transcript | ENST00000307169.4 | protein_coding | 3987 | chr14 | TogoVar | |||||||
INSR_chr19_7107265_7299414 | 7192620 | C | CCAAACCG others(20): Show |
intron_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0010 | a0001c0010t0095 | a0001c0010t0095g0202 | 1 | 298 | 0.0034 | 27 | c.653 others(44): Show |
INSR | ENSG00000171105.14 | transcript | ENST00000302850.10 | protein_coding | 2/21 | chr19 | TogoVar | |||||||
INSR_chr19_7107265_7299414 | 7207940 | G | GGAAGGAA others(20): Show |
intron_variant | MODIFIER | HG01928.hp2 HG03471.hp2 |
a0001 | a0001c0002a0001c0009 | a0001c0002t0001a0001c0009t0096 | a0001c0002t0001g0198 a0001c0009t0096g0108 |
2 | 265 | 0.0075 | 27 | c.653 others(46): Show |
INSR | ENSG00000171105.14 | transcript | ENST00000302850.10 | protein_coding | 2/21 | chr19 | TogoVar | |||||||
INSYN2A_chr10_127130430_127201591 | 127140638 | A | AAGTCTCT others(20): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(124): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(21): Show | a0001c0001t0001g0122 a0001c0001t0001g0181 a0001c0001t0005g0237 others(123): Show |
127 | 282 | 0.4504 | 27 | c.125 others(46): Show |
INSYN2A | ENSG00000188916.9 | transcript | ENST00000522781.6 | protein_coding | 5/5 | chr10 | TogoVar | |||||||
INS_chr11_2154779_2166209 | 2161846 | A | ACACCCCT others(20): Show |
upstream_gene_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 72 | 0.0139 | 27 | c.-69 others(36): Show |
INS | ENSG00000254647.7 | transcript | ENST00000381330.5 | protein_coding | 638 | chr11 | TogoVar | |||||||
INS_chr11_2154779_2166209 | 2161948 | C | CACCCCTG others(20): Show |
upstream_gene_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 13 | 0.0769 | 27 | c.-79 others(36): Show |
INS | ENSG00000254647.7 | transcript | ENST00000381330.5 | protein_coding | 740 | chr11 | TogoVar | |||||||
INTS15_chr7_6585021_6613726 | 6611123 | G | GAGACTCT others(20): Show |
downstream_gene_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0086 | 1 | 392 | 0.0026 | 27 | c.*29 others(38): Show |
INTS15 | ENSG00000146576.13 | transcript | ENST00000344417.10 | protein_coding | 2398 | chr7 | TogoVar | |||||||
INTS15_chr7_6585021_6613726 | 6613356 | T | TATATATA others(20): Show |
downstream_gene_variant | MODIFIER | HG02300.hp2 HG03927.hp2 NA19060.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0206 a0001c0001t0001g0208 |
3 | 290 | 0.0103 | 27 | c.*51 others(38): Show |
INTS15 | ENSG00000146576.13 | transcript | ENST00000344417.10 | protein_coding | 4631 | chr7 | TogoVar | |||||||
INTS9_chr8_28762661_28894969 | 28847468 | C | CACCACTA others(20): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02896.hp1 HG03139.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0294 a0001c0002t0003g0295 a0001c0002t0003g0296 others(1): Show |
4 | 356 | 0.0112 | 27 | c.199 others(42): Show |
INTS9 | ENSG00000104299.15 | transcript | ENST00000521022.6 | protein_coding | 3/16 | chr8 | TogoVar | |||||||
IPCEF1_chr6_154149496_154361803 | 154152347 | G | GAAAGAAA others(20): Show |
downstream_gene_variant | MODIFIER | HG01169.hp2 HG03492.hp1 NA18995.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0196 a0001c0001t0003g0052 a0001c0001t0003g0092 |
3 | 56 | 0.0536 | 27 | c.*74 others(38): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 2148 | chr6 | TogoVar | |||||||
IPCEF1_chr6_154149496_154361803 | 154290893 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0148 | 1 | 159 | 0.0063 | 27 | c.-61 others(44): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 1/11 | chr6 | TogoVar | |||||||
IPMK_chr10_58186517_58272894 | 58211901 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02015.hp2 HG02129.hp1 HG03486.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0161 others(2): Show |
5 | 142 | 0.0352 | 27 | c.546 others(44): Show |
IPMK | ENSG00000151151.6 | transcript | ENST00000373935.4 | protein_coding | 4/5 | chr10 | TogoVar | |||||||
IPMK_chr10_58186517_58272894 | 58259671 | T | TAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 183 | 0.0055 | 27 | c.190 others(44): Show |
IPMK | ENSG00000151151.6 | transcript | ENST00000373935.4 | protein_coding | 1/5 | chr10 | TogoVar | |||||||
IPO11_chr5_62407763_62633582 | 62470816 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0132 | 1 | 15 | 0.0667 | 27 | c.708 others(42): Show |
IPO11 | ENSG00000086200.17 | transcript | ENST00000325324.11 | protein_coding | 7/29 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
IPO11_chr5_62407763_62633582 | 62586760 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 317 | 0.0032 | 27 | c.258 others(46): Show |
IPO11 | ENSG00000086200.17 | transcript | ENST00000325324.11 | protein_coding | 27/29 | chr5 | TogoVar | |||||||
IPO5_chr13_97948675_98029296 | 97973858 | T | TCAGGAGT others(20): Show |
intron_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 378 | 0.0026 | 27 | c.-4- others(42): Show |
IPO5 | ENSG00000065150.21 | transcript | ENST00000651721.2 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
IPO5_chr13_97948675_98029296 | 98006356 | A | ATTTTTTT others(20): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0350 | 1 | 29 | 0.0345 | 27 | c.171 others(42): Show |
IPO5 | ENSG00000065150.21 | transcript | ENST00000651721.2 | protein_coding | 17/28 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
IPO5_chr13_97948675_98029296 | 98010780 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG00597.hp2 HG03704.hp2 NA18986.hp1 others(3): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0016 | a0001c0001t0001a0001c0002t0003a0006c0016t0003 | a0001c0001t0001g0228 a0001c0002t0003g0023 a0001c0002t0003g0038 others(3): Show |
6 | 101 | 0.0594 | 27 | c.205 others(44): Show |
IPO5 | ENSG00000065150.21 | transcript | ENST00000651721.2 | protein_coding | 20/28 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
IPO7_chr11_9379652_9453127 | 9397341 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG04184.hp2 NA18955.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0187 a0001c0001t0002g0209 |
2 | 26 | 0.0769 | 27 | c.85- others(42): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
IPO7_chr11_9379652_9453127 | 9397341 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0227 | 1 | 25 | 0.0400 | 27 | c.85- others(42): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
IPO7_chr11_9379652_9453127 | 9397341 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0216 | 1 | 25 | 0.0400 | 27 | c.85- others(42): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
IPO7_chr11_9379652_9453127 | 9397341 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG00673.hp2 NA18948.hp2 NA18950.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0219 others(2): Show |
5 | 29 | 0.1724 | 27 | c.85- others(42): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
IPO7_chr11_9379652_9453127 | 9397341 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG01123.hp1 HG02155.hp2 NA19057.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0182 a0001c0001t0002g0218 a0001c0001t0003g0039 |
3 | 27 | 0.1111 | 27 | c.85- others(42): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
IPO7_chr11_9379652_9453127 | 9397341 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 25 | 0.0400 | 27 | c.85- others(42): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
IPO7_chr11_9379652_9453127 | 9397341 | A | AAAAAAAT others(20): Show |
intron_variant | MODIFIER | HG03704.hp2 NA19003.hp1 NA19012.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0118 a0001c0001t0001g0149 a0001c0001t0003g0267 |
3 | 27 | 0.1111 | 27 | c.85- others(42): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
IPO7_chr11_9379652_9453127 | 9436868 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 217 | 0.0046 | 27 | c.226 others(44): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
IQANK1_chr8_143729139_143795645 | 143748807 | C | CATATAAA others(20): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01358.hp1 HG01981.hp1 others(6): Show |
a0001a0004a0006others(1): Show | a0001c0001a0004c0004a0006c0006others(1): Show | a0001c0001t0001a0004c0004t0001a0006c0006t0001others(1): Show | a0001c0001t0001g0162 a0001c0001t0001g0165 a0004c0004t0001g0154 others(6): Show |
9 | 326 | 0.0276 | 27 | c.175 others(44): Show |
IQANK1 | ENSG00000203499.12 | transcript | ENST00000527139.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
IQANK1_chr8_143729139_143795645 | 143748807 | C | CATATAAA others(20): Show |
intron_variant | MODIFIER | NA18951.hp2 NA18982.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 a0001c0001t0001g0121 |
2 | 319 | 0.0063 | 27 | c.175 others(44): Show |
IQANK1 | ENSG00000203499.12 | transcript | ENST00000527139.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
IQANK1_chr8_143729139_143795645 | 143748830 | T | TTCATATA others(20): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(129): Show |
a0001a0003a0004others(10): Show | a0001c0001a0003c0003a0004c0004others(10): Show | a0001c0001t0001a0001c0001t0002a0003c0003t0001others(11): Show | a0001c0001t0001g0005 a0001c0001t0001g0049 a0001c0001t0001g0050 others(129): Show |
132 | 328 | 0.4024 | 27 | c.175 others(44): Show |
IQANK1 | ENSG00000203499.12 | transcript | ENST00000527139.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
IQCA1_chr2_236319151_236512476 | 236357027 | A | ATATTTAT others(20): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 204 | 0.0049 | 27 | c.186 others(46): Show |
IQCA1 | ENSG00000132321.17 | transcript | ENST00000409907.8 | protein_coding | 15/18 | chr2 | TogoVar | |||||||
IQCA1_chr2_236319151_236512476 | 236491213 | C | CACACAGT others(20): Show |
intron_variant | MODIFIER | HG01952.hp1 NA18968.hp1 NA18970.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0143 a0001c0001t0003g0011 a0001c0001t0003g0013 |
3 | 202 | 0.0149 | 27 | c.456 others(44): Show |
IQCA1 | ENSG00000132321.17 | transcript | ENST00000409907.8 | protein_coding | 3/18 | chr2 | TogoVar | |||||||
IQCB1_chr3_121764761_121840060 | 121767774 | T | TTTATTAT others(20): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 HG02970.hp2 HG03453.hp2 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0267 a0001c0002t0004g0268 a0001c0002t0004g0269 |
3 | 123 | 0.0244 | 27 | c.*25 others(38): Show |
IQCB1 | ENSG00000173226.17 | transcript | ENST00000310864.11 | protein_coding | 1986 | chr3 | TogoVar | |||||||
IQCB1_chr3_121764761_121840060 | 121767774 | T | TTTTTTAT others(20): Show |
downstream_gene_variant | MODIFIER | NA19062.hp2 | a0002 | a0002c0008 | a0002c0008t0007 | a0002c0008t0007g0241 | 1 | 121 | 0.0083 | 27 | c.*25 others(38): Show |
IQCB1 | ENSG00000173226.17 | transcript | ENST00000310864.11 | protein_coding | 1986 | chr3 | TogoVar |