| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| INSR_chr19_7107265_7299414 | 7135976 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00673.hp1 HG01167.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(10): Show | a0001c0001t0010a0001c0001t0046a0001c0001t0118others(21): Show | a0001c0001t0010g0014a0001c0001t0046g0070a0001c0001t0118g0208others(22): Show | 25 | 300 | 0.0833 | 9 | c.268 others(28): Show |
INSR | ENSG00000171105.14 | transcript | ENST00000302850.10 | protein_coding | 13/21 | chr19 | TogoVar | ||||||
| INSR_chr19_7107265_7299414 | 7153033 | C | CACCACAC others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(211): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(54): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(174): Show | a0001c0001t0001g0210a0001c0001t0001g0228a0001c0001t0001g0272others(211): Show | 214 | 300 | 0.7133 | 9 | c.203 others(26): Show |
INSR | ENSG00000171105.14 | transcript | ENST00000302850.10 | protein_coding | 9/21 | chr19 | TogoVar | ||||||
| INSR_chr19_7107265_7299414 | 7158045 | G | GTATTATT others(2): Show |
intron_variant | MODIFIER | HG01167.hp2 HG02630.hp2 HG02895.hp2 others(3): Show |
a0001 | a0001c0001a0001c0005a0001c0008others(2): Show | a0001c0001t0046a0001c0005t0098a0001c0005t0107others(3): Show | a0001c0001t0046g0070a0001c0005t0098g0109a0001c0005t0107g0111others(3): Show | 6 | 300 | 0.0200 | 9 | c.202 others(28): Show |
INSR | ENSG00000171105.14 | transcript | ENST00000302850.10 | protein_coding | 9/21 | chr19 | TogoVar | ||||||
| INSR_chr19_7107265_7299414 | 7180529 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01081.hp1 HG01256.hp2 others(10): Show |
a0001a0004 | a0001c0002a0001c0003a0001c0006others(7): Show | a0001c0002t0005a0001c0003t0034a0001c0006t0002others(9): Show | a0001c0002t0005g0231a0001c0003t0034g0214a0001c0006t0002g0041others(10): Show | 13 | 300 | 0.0433 | 9 | c.974 others(26): Show |
INSR | ENSG00000171105.14 | transcript | ENST00000302850.10 | protein_coding | 3/21 | chr19 | TogoVar | ||||||
| INSR_chr19_7107265_7299414 | 7180529 | C | CAAAGAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00673.hp1 others(10): Show |
a0001 | a0001c0002a0001c0004a0001c0008others(3): Show | a0001c0002t0008a0001c0004t0058a0001c0008t0012others(10): Show | a0001c0002t0008g0193a0001c0004t0058g0026a0001c0008t0012g0078others(10): Show | 13 | 300 | 0.0433 | 9 | c.974 others(26): Show |
INSR | ENSG00000171105.14 | transcript | ENST00000302850.10 | protein_coding | 3/21 | chr19 | TogoVar | ||||||
| INSR_chr19_7107265_7299414 | 7185841 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(26): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0002a0001c0001t0009a0001c0001t0111others(25): Show | a0001c0001t0002g0047a0001c0001t0009g0243a0001c0001t0111g0202others(26): Show | 29 | 300 | 0.0967 | 9 | c.653 others(26): Show |
INSR | ENSG00000171105.14 | transcript | ENST00000302850.10 | protein_coding | 2/21 | chr19 | TogoVar | ||||||
| INSR_chr19_7107265_7299414 | 7191371 | G | GGAAAGAA others(2): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00609.hp1 HG00735.hp2 others(25): Show |
a0001a0005 | a0001c0006a0001c0007a0001c0011others(11): Show | a0001c0006t0002a0001c0006t0016a0001c0006t0051others(21): Show | a0001c0006t0002g0041a0001c0006t0016g0104a0001c0006t0051g0031others(25): Show | 28 | 300 | 0.0933 | 9 | c.653 others(26): Show |
INSR | ENSG00000171105.14 | transcript | ENST00000302850.10 | protein_coding | 2/21 | chr19 | TogoVar | ||||||
| INSR_chr19_7107265_7299414 | 7202987 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00558.hp2 others(72): Show |
a0001a0004a0006 | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0013others(62): Show | a0001c0001t0002g0015a0001c0001t0002g0040a0001c0001t0007g0155others(72): Show | 75 | 300 | 0.2500 | 9 | c.653 others(28): Show |
INSR | ENSG00000171105.14 | transcript | ENST00000302850.10 | protein_coding | 2/21 | chr19 | TogoVar | ||||||
| INSR_chr19_7107265_7299414 | 7213989 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02615.hp2 HG02647.hp2 others(8): Show |
a0001 | a0001c0002a0001c0005a0001c0012others(6): Show | a0001c0002t0153a0001c0005t0028a0001c0005t0032others(7): Show | a0001c0002t0153g0102a0001c0005t0028g0116a0001c0005t0032g0107others(8): Show | 11 | 300 | 0.0367 | 9 | c.653 others(28): Show |
INSR | ENSG00000171105.14 | transcript | ENST00000302850.10 | protein_coding | 2/21 | chr19 | TogoVar | ||||||
| INSYN1_chr15_73730458_73758351 | 73743855 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01981.hp1 HG02040.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0009a0001c0002t0015others(3): Show | a0001c0002t0001g0161a0001c0002t0001g0162a0001c0002t0001g0182others(5): Show | 8 | 406 | 0.0197 | 9 | c.157 others(26): Show |
INSYN1 | ENSG00000205363.7 | transcript | ENST00000569673.3 | protein_coding | 2/2 | chr15 | TogoVar | ||||||
| INSYN2A_chr10_127130430_127201591 | 127190682 | C | CCCCCCCC others(2): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01106.hp1 HG01261.hp1 others(12): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0006a0001c0002t0009others(3): Show | a0001c0002t0001g0020a0001c0002t0001g0038a0001c0002t0001g0082others(12): Show | 15 | 284 | 0.0528 | 9 | c.-26 others(28): Show |
INSYN2A | ENSG00000188916.9 | transcript | ENST00000522781.6 | protein_coding | 2/5 | chr10 | TogoVar | ||||||
| INTS15_chr7_6585021_6613726 | 6598786 | T | TGTGTGTG others(2): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01243.hp2 HG02040.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0004 | a0001c0001t0001a0001c0005t0001a0002c0004t0001 | a0001c0001t0001g0008a0001c0001t0001g0040a0001c0001t0001g0042others(10): Show | 16 | 394 | 0.0406 | 9 | c.581 others(26): Show |
INTS15 | ENSG00000146576.13 | transcript | ENST00000344417.10 | protein_coding | 3/5 | chr7 | TogoVar | ||||||
| INTS15_chr7_6585021_6613726 | 6613356 | T | TATATATA others(2): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG02071.hp1 HG02572.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0009others(6): Show | 9 | 394 | 0.0228 | 9 | c.*51 others(20): Show |
INTS15 | ENSG00000146576.13 | transcript | ENST00000344417.10 | protein_coding | 4631 | chr7 | TogoVar | ||||||
| INTS1_chr7_1465277_1509389 | 1504780 | C | CTAATAAT others(2): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG01884.hp1 HG02015.hp2 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0014a0001c0001t0001g0186a0001c0005t0001g0214others(1): Show | 6 | 316 | 0.0190 | 9 | c.-50 others(18): Show |
INTS1 | ENSG00000164880.16 | transcript | ENST00000404767.8 | protein_coding | 392 | chr7 | TogoVar | ||||||
| INTS2_chr17_61860367_61932982 | 61878944 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01891.hp2 HG02055.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0010others(1): Show | a0001c0001t0003g0016a0001c0001t0003g0017a0001c0001t0003g0018others(20): Show | 23 | 366 | 0.0628 | 9 | c.225 others(26): Show |
INTS2 | ENSG00000108506.14 | transcript | ENST00000251334.7 | protein_coding | 17/24 | chr17 | TogoVar | ||||||
| INTS8_chr8_94818287_94886746 | 94861256 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02129.hp1 HG02723.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0002t0001a0001c0002t0008others(2): Show | a0001c0001t0003g0011a0001c0002t0001g0052a0001c0002t0001g0084others(14): Show | 17 | 310 | 0.0548 | 9 | c.207 others(28): Show |
INTS8 | ENSG00000164941.14 | transcript | ENST00000523731.6 | protein_coding | 16/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| INTU_chr4_127627957_127731737 | 127674099 | T | TTATTTTG others(2): Show |
intron_variant | MODIFIER | HG02922.hp1 HG02976.hp2 HG03486.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0026a0001c0001t0068 | a0001c0001t0010g0008a0001c0001t0026g0131a0001c0001t0068g0128 | 4 | 358 | 0.0112 | 9 | c.109 others(24): Show |
INTU | ENSG00000164066.13 | transcript | ENST00000335251.11 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| INTU_chr4_127627957_127731737 | 127710886 | T | TTCTCTTT others(2): Show |
intron_variant | MODIFIER | NA18950.hp2 NA18973.hp2 NA18977.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0180a0001c0002t0001g0190a0001c0002t0001g0191 | 3 | 358 | 0.0084 | 9 | c.237 others(24): Show |
INTU | ENSG00000164066.13 | transcript | ENST00000335251.11 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| IP6K2_chr3_48683003_48722221 | 48687070 | C | CCTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00597.hp2 HG00673.hp1 others(26): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0011others(20): Show | 29 | 262 | 0.1107 | 9 | c.*12 others(20): Show |
IP6K2 | ENSG00000068745.15 | transcript | ENST00000328631.10 | protein_coding | 932 | chr3 | TogoVar | ||||||
| IPCEF1_chr6_154149496_154361803 | 154152318 | A | AGAAAGAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00558.hp1 HG02145.hp1 NA18971.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0010a0001c0001t0021others(1): Show | a0001c0001t0001g0053a0001c0001t0001g0054a0001c0001t0001g0264others(3): Show | 6 | 264 | 0.0227 | 9 | c.*75 others(20): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 2177 | chr6 | TogoVar | ||||||
| IPCEF1_chr6_154149496_154361803 | 154152322 | A | AGAAAGAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00738.hp2 HG03486.hp1 HG04204.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119a0001c0001t0001g0121a0001c0001t0001g0234 | 3 | 264 | 0.0114 | 9 | c.*74 others(20): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 2173 | chr6 | TogoVar | ||||||
| IPCEF1_chr6_154149496_154361803 | 154152326 | A | AGAAAGAA others(2): Show |
downstream_gene_variant | MODIFIER | HG01081.hp2 HG01243.hp1 HG01515.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0080a0001c0001t0001g0104others(2): Show | 5 | 264 | 0.0189 | 9 | c.*74 others(20): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 2169 | chr6 | TogoVar | ||||||
| IPCEF1_chr6_154149496_154361803 | 154152331 | G | GAAAGAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG02155.hp2 NA19010.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0006 | a0001c0001t0003g0160a0001c0001t0004g0252a0001c0001t0006g0217 | 3 | 264 | 0.0114 | 9 | c.*74 others(20): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 2164 | chr6 | TogoVar | ||||||
| IPCEF1_chr6_154149496_154361803 | 154152334 | A | AGAAAGAA others(2): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 HG03041.hp1 HG03710.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0087a0001c0001t0001g0241 | 3 | 264 | 0.0114 | 9 | c.*74 others(20): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 2161 | chr6 | TogoVar | ||||||
| IPCEF1_chr6_154149496_154361803 | 154313067 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00609.hp1 others(33): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0018a0001c0001t0001g0023a0001c0001t0001g0028others(33): Show | 36 | 264 | 0.1364 | 9 | c.-61 others(28): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 1/11 | chr6 | TogoVar | ||||||
| IPMK_chr10_58186517_58272894 | 58217688 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01109.hp2 HG01123.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0003a0001c0001t0006a0001c0001t0013others(7): Show | a0001c0001t0003g0258a0001c0001t0003g0298a0001c0001t0006g0284others(15): Show | 18 | 346 | 0.0520 | 9 | c.374 others(26): Show |
IPMK | ENSG00000151151.6 | transcript | ENST00000373935.4 | protein_coding | 3/5 | chr10 | TogoVar | ||||||
| IPMK_chr10_58186517_58272894 | 58271043 | A | ATTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG00621.hp2 others(100): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(13): Show | a0001c0001t0002g0011a0001c0001t0002g0157a0001c0001t0002g0218others(94): Show | 103 | 346 | 0.2977 | 9 | c.-34 others(20): Show |
IPMK | ENSG00000151151.6 | transcript | ENST00000373935.4 | protein_coding | 3150 | chr10 | TogoVar | ||||||
| IPO11_chr5_62407763_62633582 | 62586762 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02965.hp1 HG03516.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0024a0001c0001t0001g0030others(2): Show | 5 | 330 | 0.0152 | 9 | c.258 others(28): Show |
IPO11 | ENSG00000086200.17 | transcript | ENST00000325324.11 | protein_coding | 27/29 | chr5 | TogoVar | ||||||
| IPO11_chr5_62407763_62633582 | 62605713 | G | GTATTATT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(29): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0177a0001c0002t0001g0180a0001c0002t0001g0182others(29): Show | 32 | 330 | 0.0970 | 9 | c.276 others(28): Show |
IPO11 | ENSG00000086200.17 | transcript | ENST00000325324.11 | protein_coding | 29/29 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| IPO5_chr13_97948675_98029296 | 97969175 | A | ATATTTTT others(2): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02451.hp2 HG02523.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0376a0001c0002t0003g0020a0001c0002t0003g0048others(4): Show | 7 | 380 | 0.0184 | 9 | c.-11 others(26): Show |
IPO5 | ENSG00000065150.21 | transcript | ENST00000651721.2 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| IPO5_chr13_97948675_98029296 | 98006356 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03239.hp2 HG03471.hp2 others(7): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0003t0001a0001c0004t0005 | a0001c0001t0001g0091a0001c0001t0001g0093a0001c0001t0001g0094others(7): Show | 10 | 380 | 0.0263 | 9 | c.171 others(24): Show |
IPO5 | ENSG00000065150.21 | transcript | ENST00000651721.2 | protein_coding | 17/28 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| IPO7_chr11_9379652_9453127 | 9436869 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG00741.hp1 HG00741.hp2 HG01243.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0083a0001c0001t0001g0175a0001c0001t0003g0057others(1): Show | 4 | 314 | 0.0127 | 9 | c.226 others(26): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 20/24 | chr11 | TogoVar | ||||||
| IPO8_chr12_30623988_30700869 | 30627645 | T | TAAATAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 HG01884.hp1 HG02257.hp1 others(13): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0006 | a0001c0001t0006a0001c0002t0008a0001c0002t0013others(1): Show | a0001c0001t0006g0029a0001c0001t0006g0096a0001c0001t0006g0125others(12): Show | 16 | 376 | 0.0426 | 9 | c.*32 others(20): Show |
IPO8 | ENSG00000133704.10 | transcript | ENST00000256079.9 | protein_coding | 1342 | chr12 | TogoVar | ||||||
| IQANK1_chr8_143729139_143795645 | 143773326 | C | CCAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02970.hp2 HG03195.hp1 others(1): Show |
a0001a0007 | a0001c0010a0007c0007 | a0001c0010t0001a0007c0007t0001 | a0001c0010t0001g0037a0001c0010t0001g0038a0001c0010t0001g0039others(1): Show | 4 | 349 | 0.0115 | 9 | c.789 others(24): Show |
IQANK1 | ENSG00000203499.12 | transcript | ENST00000527139.7 | protein_coding | 7/13 | chr8 | TogoVar | ||||||
| IQCA1_chr2_236319151_236512476 | 236357164 | A | AGTATATA others(2): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02615.hp2 HG02895.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0044a0001c0001t0002g0191a0001c0001t0004g0052others(4): Show | 7 | 208 | 0.0337 | 9 | c.186 others(28): Show |
IQCA1 | ENSG00000132321.17 | transcript | ENST00000409907.8 | protein_coding | 15/18 | chr2 | TogoVar | ||||||
| IQCA1_chr2_236319151_236512476 | 236500082 | A | AGATGATG others(2): Show |
intron_variant | MODIFIER | NA18974.hp2 NA19010.hp2 |
a0003a0009 | a0003c0003a0009c0020 | a0003c0003t0003a0009c0020t0003 | a0003c0003t0003g0008a0009c0020t0003g0005 | 2 | 208 | 0.0096 | 9 | c.12- others(24): Show |
IQCA1 | ENSG00000132321.17 | transcript | ENST00000409907.8 | protein_coding | 1/18 | chr2 | TogoVar | ||||||
| IQCA1_chr2_236319151_236512476 | 236500118 | T | TGATGATG others(2): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01070.hp2 HG01192.hp2 others(22): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0018a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0001g0063others(22): Show | 25 | 208 | 0.1202 | 9 | c.12- others(24): Show |
IQCA1 | ENSG00000132321.17 | transcript | ENST00000409907.8 | protein_coding | 1/18 | chr2 | TogoVar | ||||||
| IQCA1_chr2_236319151_236512476 | 236502548 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01993.hp2 HG02258.hp1 others(6): Show |
a0001a0002a0011 | a0001c0001a0001c0021a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0056a0001c0001t0001g0177a0001c0001t0002g0030others(6): Show | 9 | 208 | 0.0433 | 9 | c.11+ others(24): Show |
IQCA1 | ENSG00000132321.17 | transcript | ENST00000409907.8 | protein_coding | 1/18 | chr2 | TogoVar | ||||||
| IQCB1_chr3_121764761_121840060 | 121767774 | T | TTTATTAT others(2): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 HG02735.hp2 HG03225.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0066a0001c0002t0001g0070a0001c0002t0001g0082 | 3 | 308 | 0.0097 | 9 | c.*25 others(20): Show |
IQCB1 | ENSG00000173226.17 | transcript | ENST00000310864.11 | protein_coding | 1986 | chr3 | TogoVar | ||||||
| IQCB1_chr3_121764761_121840060 | 121767774 | T | TTTTTTAT others(2): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 HG01934.hp1 HG02145.hp1 others(2): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0114a0002c0003t0001g0123a0002c0003t0001g0124others(2): Show | 5 | 308 | 0.0162 | 9 | c.*25 others(20): Show |
IQCB1 | ENSG00000173226.17 | transcript | ENST00000310864.11 | protein_coding | 1986 | chr3 | TogoVar | ||||||
| IQCD_chr12_113190446_113226094 | 113223435 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG02027.hp2 HG02717.hp1 HG03139.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0003 | a0001c0001t0001g0229a0001c0001t0001g0230a0001c0001t0001g0231others(3): Show | 7 | 332 | 0.0211 | 9 | c.-25 others(20): Show |
IQCD | ENSG00000166578.10 | transcript | ENST00000416617.3 | protein_coding | 2342 | chr12 | TogoVar | ||||||
| IQCG_chr3_197884077_197964991 | 197934183 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG01074.hp1 others(67): Show |
a0002a0008 | a0002c0002a0008c0011 | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(3): Show | a0002c0002t0001g0001a0002c0002t0001g0021a0002c0002t0001g0022others(66): Show | 70 | 280 | 0.2500 | 9 | c.516 others(26): Show |
IQCG | ENSG00000114473.14 | transcript | ENST00000265239.11 | protein_coding | 5/11 | chr3 | TogoVar | ||||||
| IQCH_chr15_67249786_67506804 | 67280837 | G | GTTATTAT others(2): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01109.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079a0001c0001t0001g0150 | 2 | 276 | 0.0073 | 9 | c.387 others(26): Show |
IQCH | ENSG00000103599.20 | transcript | ENST00000335894.9 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| IQCH_chr15_67249786_67506804 | 67340426 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01261.hp1 HG01433.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0045a0001c0001t0001g0118a0001c0001t0001g0119others(4): Show | 7 | 276 | 0.0254 | 9 | c.508 others(26): Show |
IQCH | ENSG00000103599.20 | transcript | ENST00000335894.9 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| IQCJ_chr3_159064319_159268747 | 159132936 | G | GCTTTCTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00621.hp1 HG00642.hp1 others(51): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(2): Show | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0032others(50): Show | 54 | 252 | 0.2143 | 9 | c.9+6 others(24): Show |
IQCJ | ENSG00000214216.11 | transcript | ENST00000397832.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| IQCK_chr16_19713271_19863467 | 19861087 | T | TAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 HG00733.hp2 HG01109.hp2 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0014a0001c0001t0001g0051a0001c0001t0001g0055others(36): Show | 39 | 244 | 0.1598 | 9 | c.*45 others(20): Show |
IQCK | ENSG00000174628.17 | transcript | ENST00000695302.1 | protein_coding | 2621 | chr16 | TogoVar | ||||||
| IQCM_chr4_149346709_149820843 | 149354382 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01928.hp1 HG02622.hp1 HG03669.hp2 others(2): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0002t0001a0003c0005t0001 | a0001c0001t0001g0074a0001c0001t0001g0232a0001c0002t0001g0137others(2): Show | 5 | 252 | 0.0198 | 9 | c.139 others(28): Show |
IQCM | ENSG00000234828.9 | transcript | ENST00000636793.2 | protein_coding | 13/13 | chr4 | TogoVar | ||||||
| IQCM_chr4_149346709_149820843 | 149374998 | T | TGTGTGTG others(2): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01081.hp2 HG01928.hp2 others(6): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0002t0001a0003c0005t0001 | a0001c0001t0001g0018a0001c0001t0001g0039a0001c0001t0001g0046others(6): Show | 9 | 252 | 0.0357 | 9 | c.139 others(30): Show |
IQCM | ENSG00000234828.9 | transcript | ENST00000636793.2 | protein_coding | 13/13 | chr4 | TogoVar | ||||||
| IQCM_chr4_149346709_149820843 | 149481701 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01071.hp1 HG01261.hp1 others(22): Show |
a0001a0009a0012 | a0001c0001a0001c0002a0009c0014others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0044a0001c0001t0002g0012a0001c0001t0002g0054others(22): Show | 25 | 252 | 0.0992 | 9 | c.122 others(30): Show |
IQCM | ENSG00000234828.9 | transcript | ENST00000636793.2 | protein_coding | 12/13 | chr4 | TogoVar | ||||||
| IQCM_chr4_149346709_149820843 | 149705157 | T | TAAATATA others(2): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02258.hp1 HG02572.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0101a0001c0001t0002g0025a0001c0001t0002g0186others(6): Show | 9 | 252 | 0.0357 | 9 | c.386 others(28): Show |
IQCM | ENSG00000234828.9 | transcript | ENST00000636793.2 | protein_coding | 5/13 | chr4 | TogoVar |