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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
INPP5A_chr10_132532787_132788480 | 132671320 | T | TGCCCTCC others(14): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0006t0001others(4): Show | a0001c0001t0001g0007a0001c0001t0001g0010a0001c0001t0001g0107others(14): Show | 17 | 204 | 0.0833 | 21 | c.307 others(40): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
INPP5F_chr10_119721050_119834147 | 119785286 | G | GTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG03492.hp2 HG03669.hp2 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0309a0001c0003t0003g0312 | 2 | 328 | 0.0061 | 21 | c.315 others(38): Show |
INPP5F | ENSG00000198825.15 | transcript | ENST00000650623.2 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
INPP5J_chr22_31117966_31139697 | 31121049 | C | CTTTTTTT others(14): Show |
upstream_gene_variant | MODIFIER | HG01175.hp1 HG02683.hp2 HG02717.hp2 |
a0001a0012 | a0001c0003a0012c0025 | a0001c0003t0001a0012c0025t0001 | a0001c0003t0001g0137a0001c0003t0001g0143a0012c0025t0001g0013 | 3 | 422 | 0.0071 | 21 | c.-19 others(32): Show |
INPP5J | ENSG00000185133.14 | transcript | ENST00000331075.10 | protein_coding | 1916 | chr22 | TogoVar | ||||||
INSC_chr11_15109923_15252208 | 15116847 | T | TTCTTTCT others(14): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 270 | 0.0037 | 21 | c.-46 others(38): Show |
INSC | ENSG00000188487.12 | transcript | ENST00000379556.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
INSM2_chr14_35529164_35542054 | 35541040 | A | ATTTTTTT others(14): Show |
downstream_gene_variant | MODIFIER | HG00621.hp2 HG03017.hp2 HG03453.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0000a0001c0002t0001g0000 | 8 | 402 | 0.0199 | 21 | c.*50 others(32): Show |
INSM2 | ENSG00000168348.4 | transcript | ENST00000307169.4 | protein_coding | 3987 | chr14 | TogoVar | ||||||
INSR_chr19_7107265_7299414 | 7163948 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02647.hp2 HG02818.hp1 others(3): Show |
a0001 | a0001c0005a0001c0014a0001c0025others(1): Show | a0001c0005t0016a0001c0005t0121a0001c0014t0034others(3): Show | a0001c0005t0016g0120a0001c0005t0121g0097a0001c0014t0034g0169others(3): Show | 6 | 300 | 0.0200 | 21 | c.186 others(38): Show |
INSR | ENSG00000171105.14 | transcript | ENST00000302850.10 | protein_coding | 8/21 | chr19 | TogoVar | ||||||
INSR_chr19_7107265_7299414 | 7184661 | G | GAGAGAGA others(14): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0005 | a0001c0005t0121 | a0001c0005t0121g0097 | 1 | 300 | 0.0033 | 21 | c.653 others(34): Show |
INSR | ENSG00000171105.14 | transcript | ENST00000302850.10 | protein_coding | 2/21 | chr19 | TogoVar | ||||||
INSR_chr19_7107265_7299414 | 7207901 | A | AAAGGAAG others(14): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0061 | a0001c0061t0071 | a0001c0061t0071g0046 | 1 | 300 | 0.0033 | 21 | c.653 others(40): Show |
INSR | ENSG00000171105.14 | transcript | ENST00000302850.10 | protein_coding | 2/21 | chr19 | TogoVar | ||||||
INSYN1_chr15_73730458_73758351 | 73743828 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0080 | a0001c0001t0080g0145 | 1 | 406 | 0.0025 | 21 | c.157 others(38): Show |
INSYN1 | ENSG00000205363.7 | transcript | ENST00000569673.3 | protein_coding | 2/2 | chr15 | TogoVar | ||||||
INSYN2B_chr5_169856303_169985495 | 169961978 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02258.hp2 HG02451.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0005a0002c0002t0007others(1): Show | a0001c0001t0003g0003a0001c0001t0003g0005a0001c0001t0003g0056others(5): Show | 8 | 318 | 0.0252 | 21 | c.-91 others(42): Show |
INSYN2B | ENSG00000204767.4 | transcript | ENST00000377365.4 | protein_coding | 1/3 | chr5 | TogoVar | ||||||
INTS15_chr7_6585021_6613726 | 6598786 | T | TGTGTGTG others(14): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 394 | 0.0025 | 21 | c.581 others(38): Show |
INTS15 | ENSG00000146576.13 | transcript | ENST00000344417.10 | protein_coding | 3/5 | chr7 | TogoVar | ||||||
INTS15_chr7_6585021_6613726 | 6613356 | T | TATATATA others(14): Show |
downstream_gene_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 394 | 0.0025 | 21 | c.*51 others(32): Show |
INTS15 | ENSG00000146576.13 | transcript | ENST00000344417.10 | protein_coding | 4631 | chr7 | TogoVar | ||||||
INTS1_chr7_1465277_1509389 | 1476493 | G | GCCTCTCC others(14): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(135): Show |
a0001a0003a0005others(4): Show | a0001c0001a0001c0002a0001c0004others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(20): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0014others(104): Show | 138 | 316 | 0.4367 | 21 | c.515 others(36): Show |
INTS1 | ENSG00000164880.16 | transcript | ENST00000404767.8 | protein_coding | 37/47 | chr7 | TogoVar | ||||||
INTS1_chr7_1465277_1509389 | 1504780 | C | CTAATAAT others(14): Show |
upstream_gene_variant | MODIFIER | HG02895.hp1 HG03453.hp2 |
a0001 | a0001c0009a0001c0031 | a0001c0009t0001a0001c0031t0001 | a0001c0009t0001g0043a0001c0031t0001g0123 | 2 | 316 | 0.0063 | 21 | c.-50 others(30): Show |
INTS1 | ENSG00000164880.16 | transcript | ENST00000404767.8 | protein_coding | 392 | chr7 | TogoVar | ||||||
INTS1_chr7_1465277_1509389 | 1504781 | A | AAATAATA others(14): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 NA20129.hp2 |
a0001 | a0001c0026a0001c0027 | a0001c0026t0002a0001c0027t0002 | a0001c0026t0002g0104a0001c0027t0002g0103 | 2 | 316 | 0.0063 | 21 | c.-50 others(30): Show |
INTS1 | ENSG00000164880.16 | transcript | ENST00000404767.8 | protein_coding | 393 | chr7 | TogoVar | ||||||
INTS4_chr11_77873720_77999668 | 77935903 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0273a0001c0006t0001g0274 | 2 | 362 | 0.0055 | 21 | c.116 others(40): Show |
INTS4 | ENSG00000149262.19 | transcript | ENST00000534064.6 | protein_coding | 10/22 | chr11 | TogoVar | ||||||
INTS4_chr11_77873720_77999668 | 77996359 | C | CAAAAAAA others(14): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG02647.hp1 HG03209.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0159a0001c0002t0001g0114a0001c0002t0001g0115others(1): Show | 4 | 362 | 0.0111 | 21 | c.-17 others(32): Show |
INTS4 | ENSG00000149262.19 | transcript | ENST00000534064.6 | protein_coding | 1692 | chr11 | TogoVar | ||||||
INTS6_chr13_51356577_51458036 | 51429785 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0137 | 1 | 358 | 0.0028 | 21 | c.429 others(36): Show |
INTS6 | ENSG00000102786.15 | transcript | ENST00000311234.9 | protein_coding | 4/17 | chr13 | TogoVar | ||||||
IP6K1_chr3_49719294_49791542 | 49731887 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG00735.hp2 others(36): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0011a0002c0002t0001 | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0001g0018others(35): Show | 39 | 260 | 0.1500 | 21 | c.616 others(36): Show |
IP6K1 | ENSG00000176095.12 | transcript | ENST00000321599.9 | protein_coding | 4/5 | chr3 | TogoVar | ||||||
IPCEF1_chr6_154149496_154361803 | 154331370 | G | GGAAAGAA others(14): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0207 | 1 | 264 | 0.0038 | 21 | c.-62 others(40): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 1/11 | chr6 | TogoVar | ||||||
IPMK_chr10_58186517_58272894 | 58259671 | T | TAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 346 | 0.0029 | 21 | c.190 others(38): Show |
IPMK | ENSG00000151151.6 | transcript | ENST00000373935.4 | protein_coding | 1/5 | chr10 | TogoVar | ||||||
IPO11_chr5_62407763_62633582 | 62470816 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0111 | 1 | 330 | 0.0030 | 21 | c.708 others(36): Show |
IPO11 | ENSG00000086200.17 | transcript | ENST00000325324.11 | protein_coding | 7/29 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
IPO11_chr5_62407763_62633582 | 62503300 | C | CAGTATCT others(14): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00597.hp2 others(31): Show |
a0001 | a0001c0003a0001c0005a0001c0007 | a0001c0003t0001a0001c0003t0004a0001c0005t0001others(1): Show | a0001c0003t0001g0014a0001c0003t0001g0061a0001c0003t0001g0062others(31): Show | 34 | 330 | 0.1030 | 21 | c.159 others(40): Show |
IPO11 | ENSG00000086200.17 | transcript | ENST00000325324.11 | protein_coding | 16/29 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
IPO11_chr5_62407763_62633582 | 62503309 | T | TTAATATA others(14): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0163 | 1 | 330 | 0.0030 | 21 | c.159 others(40): Show |
IPO11 | ENSG00000086200.17 | transcript | ENST00000325324.11 | protein_coding | 16/29 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
IPO11_chr5_62407763_62633582 | 62503351 | T | TTAATATA others(14): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0148 | 1 | 330 | 0.0030 | 21 | c.159 others(40): Show |
IPO11 | ENSG00000086200.17 | transcript | ENST00000325324.11 | protein_coding | 16/29 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
IPO11_chr5_62407763_62633582 | 62503372 | C | CTAATATA others(14): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00673.hp1 HG00741.hp2 others(57): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0054a0001c0001t0001g0094others(57): Show | 60 | 330 | 0.1818 | 21 | c.159 others(40): Show |
IPO11 | ENSG00000086200.17 | transcript | ENST00000325324.11 | protein_coding | 16/29 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
IPO11_chr5_62407763_62633582 | 62503393 | T | TTAATATA others(14): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02155.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103a0001c0001t0001g0117 | 2 | 330 | 0.0061 | 21 | c.159 others(40): Show |
IPO11 | ENSG00000086200.17 | transcript | ENST00000325324.11 | protein_coding | 16/29 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
IPO11_chr5_62407763_62633582 | 62586762 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG01496.hp2 HG01934.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038a0001c0001t0001g0048 | 2 | 330 | 0.0061 | 21 | c.258 others(40): Show |
IPO11 | ENSG00000086200.17 | transcript | ENST00000325324.11 | protein_coding | 27/29 | chr5 | TogoVar | ||||||
IPO5_chr13_97948675_98029296 | 98010780 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02523.hp1 HG02615.hp1 HG03041.hp1 others(10): Show |
a0001 | a0001c0001a0001c0003a0001c0014 | a0001c0001t0001a0001c0001t0007a0001c0003t0001others(1): Show | a0001c0001t0001g0086a0001c0001t0001g0091a0001c0001t0001g0092others(9): Show | 13 | 380 | 0.0342 | 21 | c.205 others(38): 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(14): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0287 | 1 | 314 | 0.0032 | 21 | c.85- others(36): 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(14): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 314 | 0.0032 | 21 | c.85- others(36): 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(14): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01993.hp2 NA18944.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0199a0001c0001t0002g0263a0001c0001t0004g0223 | 3 | 314 | 0.0096 | 21 | c.85- others(36): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
IPO7_chr11_9379652_9453127 | 9419559 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0284 | 1 | 314 | 0.0032 | 21 | c.727 others(36): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
IPO7_chr11_9379652_9453127 | 9436868 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02717.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050a0001c0001t0001g0156a0001c0001t0001g0157 | 3 | 314 | 0.0096 | 21 | c.226 others(38): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
IPO7_chr11_9379652_9453127 | 9436868 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 314 | 0.0032 | 21 | c.226 others(38): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
IPO7_chr11_9379652_9453127 | 9436868 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 314 | 0.0032 | 21 | c.226 others(38): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
IPO7_chr11_9379652_9453127 | 9436868 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 314 | 0.0032 | 21 | c.226 others(38): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
IPO7_chr11_9379652_9453127 | 9436868 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 314 | 0.0032 | 21 | c.226 others(38): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
IPO9_chr1_201824157_201889291 | 201871376 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0004 | a0001c0004t0033 | a0001c0004t0033g0216 | 1 | 396 | 0.0025 | 21 | c.257 others(36): Show |
IPO9 | ENSG00000198700.10 | transcript | ENST00000361565.9 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
IQCA1_chr2_236319151_236512476 | 236482039 | G | GGTATAAT others(14): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00609.hp2 others(77): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0021others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0034a0001c0001t0001g0043a0001c0001t0001g0044others(77): Show | 80 | 208 | 0.3846 | 21 | c.720 others(38): Show |
IQCA1 | ENSG00000132321.17 | transcript | ENST00000409907.8 | protein_coding | 5/18 | chr2 | TogoVar | ||||||
IQCB1_chr3_121764761_121840060 | 121767774 | T | TTTATTAT others(14): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 HG02922.hp1 HG03139.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002a0001c0002t0001g0007a0001c0002t0001g0038others(1): Show | 6 | 308 | 0.0195 | 21 | c.*25 others(32): Show |
IQCB1 | ENSG00000173226.17 | transcript | ENST00000310864.11 | protein_coding | 1986 | chr3 | TogoVar | ||||||
IQCB1_chr3_121764761_121840060 | 121767774 | T | TTTTTTAT others(14): Show |
downstream_gene_variant | MODIFIER | HG01433.hp2 HG02132.hp2 HG02717.hp1 others(8): Show |
a0002a0007 | a0002c0003a0007c0007 | a0002c0003t0001a0007c0007t0007 | a0002c0003t0001g0105a0002c0003t0001g0107a0002c0003t0001g0109others(8): Show | 11 | 308 | 0.0357 | 21 | c.*25 others(32): Show |
IQCB1 | ENSG00000173226.17 | transcript | ENST00000310864.11 | protein_coding | 1986 | chr3 | TogoVar | ||||||
IQCB1_chr3_121764761_121840060 | 121767774 | T | TTTTTTTT others(14): Show |
downstream_gene_variant | MODIFIER | NA18906.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0120 | 1 | 308 | 0.0033 | 21 | c.*25 others(32): Show |
IQCB1 | ENSG00000173226.17 | transcript | ENST00000310864.11 | protein_coding | 1986 | chr3 | TogoVar | ||||||
IQCH_chr15_67249786_67506804 | 67358207 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01071.hp1 HG01106.hp2 others(10): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0188a0001c0001t0001g0190a0001c0001t0001g0192others(10): Show | 13 | 276 | 0.0471 | 21 | c.714 others(36): Show |
IQCH | ENSG00000103599.20 | transcript | ENST00000335894.9 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
IQCH_chr15_67249786_67506804 | 67409593 | G | GCGATAGA others(14): Show |
intron_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 276 | 0.0036 | 21 | c.209 others(40): Show |
IQCH | ENSG00000103599.20 | transcript | ENST00000335894.9 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
IQCK_chr16_19713271_19863467 | 19798421 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 244 | 0.0041 | 21 | c.690 others(38): Show |
IQCK | ENSG00000174628.17 | transcript | ENST00000695302.1 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
IQCK_chr16_19713271_19863467 | 19798421 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 244 | 0.0041 | 21 | c.690 others(38): Show |
IQCK | ENSG00000174628.17 | transcript | ENST00000695302.1 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
IQCK_chr16_19713271_19863467 | 19861087 | T | TAAAAAAA others(14): Show |
downstream_gene_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0020 | 1 | 244 | 0.0041 | 21 | c.*45 others(32): Show |
IQCK | ENSG00000174628.17 | transcript | ENST00000695302.1 | protein_coding | 2621 | chr16 | TogoVar | ||||||
IQCM_chr4_149346709_149820843 | 149354363 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 252 | 0.0040 | 21 | c.139 others(40): Show |
IQCM | ENSG00000234828.9 | transcript | ENST00000636793.2 | protein_coding | 13/13 | chr4 | TogoVar | ||||||
IQCM_chr4_149346709_149820843 | 149481696 | G | GTTTTGTT others(14): Show |
intron_variant | MODIFIER | HG03491.hp1 HG03927.hp2 HG04199.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0031a0001c0001t0001g0107a0001c0001t0001g0124others(7): Show | 10 | 252 | 0.0397 | 21 | c.122 others(42): Show |
IQCM | ENSG00000234828.9 | transcript | ENST00000636793.2 | protein_coding | 12/13 | chr4 | TogoVar |