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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GP6_chr19_55008705_55043264 | 55033331 | CGTGTTGT others(56): Show |
C | intron_variant | MODIFIER | HG02717.hp2 | a0021 | a0021c0031 | a0021c0031t0002 | a0021c0031t0002g0402 | 1 | 441 | 0.0023 | -63 | c.35- others(76): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 1/7 | chr19 | TogoVar | ||||||
GPIHBP1_chr8_143208218_143222170 | 143216659 | TTCACCAG others(56): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0003 | a0001c0003t0012 | a0001c0003t0012g0002 | 1 | 106 | 0.0094 | -63 | c.*11 others(74): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 4/4 | 1142 | chr8 | TogoVar | |||||
GPR107_chr9_130048906_130145164 | 130084414 | AAAAAAAT others(56): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG02280.hp1 NA19030.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0007 | a0001c0002t0003g0181a0001c0002t0003g0182a0001c0002t0003g0183others(1): Show | 4 | 306 | 0.0131 | -63 | c.564 others(78): Show |
GPR107 | ENSG00000148358.21 | transcript | ENST00000347136.11 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
GPR88_chr1_100533139_100547021 | 100545526 | GATTAATG others(56): Show |
G | downstream_gene_variant | MODIFIER | HG00597.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0040 | 1 | 426 | 0.0024 | -63 | c.*54 others(74): Show |
GPR88 | ENSG00000181656.7 | transcript | ENST00000315033.5 | protein_coding | 3506 | chr1 | TogoVar | ||||||
GPSM2_chr1_108871985_108939545 | 108873386 | ATATATAT others(56): Show |
A | upstream_gene_variant | MODIFIER | HG02486.hp2 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0033 | 1 | 260 | 0.0039 | -63 | c.-40 others(74): Show |
GPSM2 | ENSG00000121957.15 | transcript | ENST00000264126.9 | protein_coding | 3598 | chr1 | TogoVar | ||||||
GRIA1_chr5_153485670_153818869 | 153712581 | CTTCTTGA others(56): Show |
C | intron_variant | MODIFIER | HG01175.hp2 HG01884.hp2 HG01981.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0008a0001c0001t0001g0014a0001c0001t0001g0048others(10): Show | 13 | 194 | 0.0670 | -63 | c.182 others(82): Show |
GRIA1 | ENSG00000155511.19 | transcript | ENST00000285900.10 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
GRSF1_chr4_70810783_70844890 | 70840012 | CTTGGGCG others(56): Show |
C | upstream_gene_variant | MODIFIER | HG02572.hp1 HG02698.hp2 HG02738.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0024 | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0081others(6): Show | 10 | 328 | 0.0305 | -63 | c.-24 others(72): Show |
GRSF1 | ENSG00000132463.15 | transcript | ENST00000254799.11 | protein_coding | 123 | chr4 | TogoVar | ||||||
GSDMD_chr8_143553346_143568062 | 143557283 | TTGCCGCT others(56): Show |
T | upstream_gene_variant | MODIFIER | HG02257.hp1 HG02647.hp2 HG02818.hp2 others(3): Show |
a0001a0004a0006others(1): Show | a0001c0001a0001c0004a0004c0010others(2): Show | a0001c0001t0001a0001c0004t0001a0004c0010t0001others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0023a0001c0004t0001g0050others(3): Show | 6 | 417 | 0.0144 | -63 | c.-11 others(74): Show |
GSDMD | ENSG00000104518.11 | transcript | ENST00000262580.9 | protein_coding | 1062 | chr8 | TogoVar | ||||||
GSDMD_chr8_143553346_143568062 | 143557343 | ATGCTGCC others(56): Show |
A | upstream_gene_variant | MODIFIER | HG01891.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 2 | 417 | 0.0048 | -63 | c.-11 others(74): Show |
GSDMD | ENSG00000104518.11 | transcript | ENST00000262580.9 | protein_coding | 1002 | chr8 | TogoVar | ||||||
GSE1_chr16_85608322_85681200 | 85637714 | GACCCCTG others(56): Show |
G | intron_variant | MODIFIER | HG00323.hp1 NA20752.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0057a0001c0002t0001g0157 | 2 | 290 | 0.0069 | -63 | c.226 others(80): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
GSG1L_chr16_27782528_28068714 | 27805332 | GGGGTGGG others(56): Show |
G | intron_variant | MODIFIER | HG01070.hp1 HG01074.hp2 HG01361.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0004a0001c0001t0010a0001c0001t0033others(4): Show | a0001c0001t0004g0043a0001c0001t0004g0101a0001c0001t0004g0138others(13): Show | 16 | 240 | 0.0667 | -63 | c.898 others(80): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 6/6 | chr16 | TogoVar | ||||||
GSG1L_chr16_27782528_28068714 | 27805596 | GGGGGGAG others(56): Show |
G | intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 240 | 0.0042 | -63 | c.898 others(80): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 6/6 | chr16 | TogoVar | ||||||
GSG1L_chr16_27782528_28068714 | 27805623 | GGGGTGGG others(56): Show |
G | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0175 | 1 | 240 | 0.0042 | -63 | c.898 others(80): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 6/6 | chr16 | TogoVar | ||||||
GSG1L_chr16_27782528_28068714 | 27888419 | TCTTTCTT others(56): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG01169.hp1 HG01256.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(2): Show | a0001c0001t0001g0038a0001c0001t0001g0089a0001c0001t0001g0152others(5): Show | 8 | 240 | 0.0333 | -63 | c.398 others(80): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 2/6 | chr16 | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 316016 | CACAGTAA others(56): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02451.hp1 HG02615.hp1 |
a0001a0021 | a0001c0003a0021c0027 | a0001c0003t0002a0021c0027t0004 | a0001c0003t0002g0084a0001c0003t0002g0085a0021c0027t0004g0083 | 3 | 155 | 0.0194 | -63 | c.488 others(78): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | ||||||
H2AB1_chrX_154879972_154890558 | 154886731 | GGCCGCCG others(56): Show |
G | downstream_gene_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 318 | 0.0031 | -63 | c.*13 others(74): Show |
H2AB1 | ENSG00000274183.2 | transcript | ENST00000620016.2 | protein_coding | 1174 | chrX | TogoVar | ||||||
H2AB2_chrX_155375709_155386299 | 155385212 | CGTCAGGG others(56): Show |
C | downstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 229 | 0.0044 | -63 | c.*40 others(74): Show |
H2AB2 | ENSG00000277858.2 | transcript | ENST00000354514.6 | protein_coding | 3914 | chrX | TogoVar | ||||||
HCN2_chr19_584881_622159 | 594065 | AGGGGCTG others(56): Show |
A | intron_variant | MODIFIER | HG02717.hp1 HG03041.hp2 |
a0001 | a0001c0076a0001c0079 | a0001c0076t0001a0001c0079t0004 | a0001c0076t0001g0029a0001c0079t0004g0028 | 2 | 408 | 0.0049 | -63 | c.632 others(80): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
HMCN2_chr9_130260760_130439123 | 130277826 | CCACCACC others(56): Show |
C | intron_variant | MODIFIER | HG01257.hp1 | a0167 | a0167c0185 | a0167c0185t0002 | a0167c0185t0002g0192 | 1 | 258 | 0.0039 | -63 | c.260 others(80): Show |
HMCN2 | ENSG00000148357.18 | transcript | ENST00000683500.2 | protein_coding | 1/97 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
HMGCLL1_chr6_55429373_55584192 | 55477361 | TTATATTA others(56): Show |
T | intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0070 | 1 | 334 | 0.0030 | -63 | c.795 others(82): Show |
HMGCLL1 | ENSG00000146151.14 | transcript | ENST00000274901.9 | protein_coding | 7/8 | chr6 | TogoVar | ||||||
HNF1A_chr12_120973543_121007512 | 120988009 | TACCCACC others(56): Show |
T | intron_variant | MODIFIER | HG00621.hp1 HG01175.hp1 HG02083.hp2 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0086a0001c0001t0001g0133a0001c0001t0001g0134others(5): Show | 8 | 410 | 0.0195 | -63 | c.327 others(78): Show |
HNF1A | ENSG00000135100.19 | transcript | ENST00000257555.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
HNF1A_chr12_120973543_121007512 | 120988198 | TACCCACC others(56): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00423.hp2 others(90): Show |
a0001a0002a0003others(2): Show | a0001c0006a0002c0002a0002c0011others(5): Show | a0001c0006t0001a0002c0002t0002a0002c0002t0005others(9): Show | a0001c0006t0001g0222a0001c0006t0001g0226a0002c0002t0002g0001others(57): Show | 93 | 410 | 0.2268 | -63 | c.327 others(78): Show |
HNF1A | ENSG00000135100.19 | transcript | ENST00000257555.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
HNRNPA2B1_chr7_26184927_26205746 | 26189164 | GCAGCCTT others(56): Show |
G | downstream_gene_variant | MODIFIER | NA19059.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0106 | 1 | 432 | 0.0023 | -63 | c.*31 others(74): Show |
HNRNPA2B1 | ENSG00000122566.22 | transcript | ENST00000618183.5 | protein_coding | 762 | chr7 | TogoVar | ||||||
HOXC13_chr12_53933831_53951544 | 53947607 | AGAAAAAG others(56): Show |
A | downstream_gene_variant | MODIFIER | HG02559.hp1 HG02886.hp1 HG02895.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0040a0001c0001t0006g0035 | 3 | 402 | 0.0075 | -63 | c.*23 others(74): Show |
HOXC13 | ENSG00000123364.5 | transcript | ENST00000243056.5 | protein_coding | 1064 | chr12 | TogoVar | ||||||
HPSE2_chr10_98452077_99240852 | 99132168 | AGAAAGAA others(56): Show |
A | intron_variant | MODIFIER | HG02572.hp1 NA18962.hp2 NA19003.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0008a0002c0002t0002a0002c0002t0019 | a0001c0001t0008g0030a0002c0002t0002g0029a0002c0002t0002g0050others(1): Show | 4 | 142 | 0.0282 | -63 | c.610 others(82): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 3/11 | chr10 | TogoVar | ||||||
HRH3_chr20_62209960_62225278 | 62213294 | CGGGGATG others(56): Show |
C | downstream_gene_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0005 | 1 | 368 | 0.0027 | -63 | c.*26 others(74): Show |
HRH3 | ENSG00000101180.17 | transcript | ENST00000340177.10 | protein_coding | 1665 | chr20 | TogoVar | ||||||
HS2ST1_chr1_86909635_87114982 | 86963812 | ACGGGGCG others(56): Show |
A | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0101 | 1 | 154 | 0.0065 | -63 | c.124 others(82): Show |
HS2ST1 | ENSG00000153936.18 | transcript | ENST00000370550.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HTR1F_chr3_87787706_87998839 | 87802220 | TCTCCCTC others(56): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG01175.hp2 HG01243.hp2 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0217a0001c0001t0002g0231a0001c0001t0002g0239others(29): Show | 33 | 250 | 0.1320 | -63 | c.-16 others(82): Show |
HTR1F | ENSG00000179097.7 | transcript | ENST00000319595.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
IDI1_chr10_1034419_1054119 | 1038690 | TTGTCCCC others(56): Show |
T | downstream_gene_variant | MODIFIER | HG02280.hp1 HG02622.hp2 HG02976.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0001g0032a0001c0001t0001g0099a0001c0001t0005g0026others(2): Show | 5 | 438 | 0.0114 | -63 | c.*24 others(74): Show |
IDI1 | ENSG00000067064.13 | transcript | ENST00000381344.8 | protein_coding | 728 | chr10 | TogoVar | ||||||
IDI1_chr10_1034419_1054119 | 1038907 | TTCCCACA others(56): Show |
T | downstream_gene_variant | MODIFIER | HG00323.hp2 HG02572.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0007a0001c0001t0005g0107 | 2 | 438 | 0.0046 | -63 | c.*22 others(74): Show |
IDI1 | ENSG00000067064.13 | transcript | ENST00000381344.8 | protein_coding | 511 | chr10 | TogoVar | ||||||
IDI1_chr10_1034419_1054119 | 1038970 | GTCCCACA others(56): Show |
G | downstream_gene_variant | MODIFIER | HG00609.hp1 HG00639.hp1 HG00673.hp1 others(30): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(1): Show | a0001c0001t0003g0003a0001c0001t0003g0020a0001c0001t0003g0076others(6): Show | 33 | 438 | 0.0753 | -63 | c.*21 others(74): Show |
IDI1 | ENSG00000067064.13 | transcript | ENST00000381344.8 | protein_coding | 448 | chr10 | TogoVar | ||||||
IDO2_chr8_39929651_40021392 | 39962793 | GCCCAAGC others(56): Show |
G | intron_variant | MODIFIER | HG03704.hp1 | a0014 | a0014c0018 | a0014c0018t0001 | a0014c0018t0001g0309 | 1 | 360 | 0.0028 | -63 | c.100 others(78): Show |
IDO2 | ENSG00000188676.15 | transcript | ENST00000502986.4 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
IGF2R_chr6_159964082_160116504 | 160100723 | CCTTTTTT others(56): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG01192.hp2 others(15): Show |
a0001a0004a0030 | a0001c0001a0001c0002a0001c0037others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0010others(10): Show | a0001c0001t0002g0062a0001c0001t0002g0141a0001c0001t0003g0231others(15): Show | 18 | 310 | 0.0581 | -63 | c.684 others(82): Show |
IGF2R | ENSG00000197081.16 | transcript | ENST00000356956.6 | protein_coding | 45/47 | chr6 | TogoVar | ||||||
IL3RA_chrX_1331785_1387689 | 1366434 | GGGGTGCG others(56): Show |
G | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 115 | 0.0087 | -63 | c.874 others(80): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
IL3RA_chrX_1331785_1387689 | 1367059 | AGCGGGGT others(56): Show |
A | intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0086 | 1 | 115 | 0.0087 | -63 | c.874 others(80): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
IL3RA_chrX_1331785_1387689 | 1367266 | AGCCGGGT others(56): Show |
A | intron_variant | MODIFIER | HG03453.hp2 HG04115.hp2 NA18906.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0105a0001c0001t0003g0113a0001c0001t0004g0064others(1): Show | 4 | 115 | 0.0348 | -63 | c.874 others(80): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
IMPA1_chr8_81651914_81691325 | 81686416 | GCCTCTGC others(56): Show |
G | upstream_gene_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0017 | 1 | 380 | 0.0026 | -63 | c.-25 others(72): Show |
IMPA1 | ENSG00000133731.10 | transcript | ENST00000256108.10 | protein_coding | 92 | chr8 | TogoVar | ||||||
INPP5A_chr10_132532787_132788480 | 132671334 | CGGACTCC others(56): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02895.hp1 HG02897.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(3): Show | a0001c0001t0001g0134a0001c0001t0002g0082a0001c0001t0014g0078others(4): Show | 7 | 204 | 0.0343 | -63 | c.307 others(82): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
INPP5D_chr2_233055342_233212903 | 233065588 | TTTCTTTC others(56): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02257.hp2 HG02723.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(9): Show | a0001c0001t0003g0190a0001c0001t0005g0024a0001c0001t0005g0184others(13): Show | 16 | 310 | 0.0516 | -63 | c.134 others(80): Show |
INPP5D | ENSG00000168918.14 | transcript | ENST00000445964.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
IQCE_chr7_2553979_2619728 | 2605877 | GCTCTCCT others(56): Show |
G | disruptive_inframe_deletion others(1): Show |
MODERATE | NA19078.hp1 | a0023 | a0023c0043 | a0023c0043t0018 | a0023c0043t0018g0147 | 1 | 416 | 0.0024 | -63 | c.174 others(72): Show |
p.Ser others(19): Show |
IQCE | ENSG00000106012.19 | transcript | ENST00000402050.7 | protein_coding | 20/22 | 1949/6857 | 1746/2088 | 582/695 | chr7 | TogoVar | ||
ISG20_chr15_88634016_88661483 | 88652412 | CCTCCTCC others(56): Show |
C | intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0113 | 1 | 436 | 0.0023 | -63 | c.429 others(78): Show |
ISG20 | ENSG00000172183.16 | transcript | ENST00000306072.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ITFG2_chr12_2807668_2830076 | 2828178 | CTTCTCTG others(56): Show |
C | downstream_gene_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 402 | 0.0025 | -63 | c.*39 others(74): Show |
ITFG2 | ENSG00000111203.13 | transcript | ENST00000228799.7 | protein_coding | 3103 | chr12 | TogoVar | ||||||
ITGA11_chr15_68291532_68437163 | 68397243 | ATTATATT others(56): Show |
A | intron_variant | MODIFIER | NA19056.hp2 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0100 | 1 | 242 | 0.0041 | -63 | c.164 others(80): Show |
ITGA11 | ENSG00000137809.17 | transcript | ENST00000315757.9 | protein_coding | 2/29 | chr15 | TogoVar | ||||||
ITGA9_chr3_37447141_37828507 | 37511989 | TTTTCTTT others(56): Show |
T | intron_variant | MODIFIER | HG02976.hp1 HG03041.hp1 NA18970.hp1 |
a0001a0008 | a0001c0001a0008c0024 | a0001c0001t0001a0001c0001t0003a0008c0024t0005 | a0001c0001t0001g0010a0001c0001t0003g0054a0008c0024t0005g0084 | 3 | 168 | 0.0179 | -63 | c.898 others(80): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 8/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ITGA9_chr3_37447141_37828507 | 37512112 | CCTTCCTT others(56): Show |
C | intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0001 | 1 | 168 | 0.0060 | -63 | c.898 others(80): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 8/27 | chr3 | TogoVar | ||||||
ITGB2_chr21_44880953_44925899 | 44884747 | TGCTGGAG others(56): Show |
T | downstream_gene_variant | MODIFIER | NA18964.hp2 | a0006 | a0006c0028 | a0006c0028t0003 | a0006c0028t0003g0346 | 1 | 444 | 0.0023 | -63 | c.*15 others(74): Show |
ITGB2 | ENSG00000160255.19 | transcript | ENST00000652462.1 | protein_coding | 1205 | chr21 | TogoVar | ||||||
ITGB2_chr21_44880953_44925899 | 44888078 | TGAATGAG others(56): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp2 others(50): Show |
a0001 | a0001c0001a0001c0004a0001c0006others(4): Show | a0001c0001t0001a0001c0004t0001a0001c0006t0001others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0019a0001c0001t0001g0021others(47): Show | 53 | 444 | 0.1194 | -63 | c.208 others(80): Show |
ITGB2 | ENSG00000160255.19 | transcript | ENST00000652462.1 | protein_coding | 14/15 | chr21 | TogoVar | ||||||
IYD_chr6_150364012_150410969 | 150372475 | GTGTGTCC others(56): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp2 HG00621.hp2 others(103): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0206a0001c0001t0001g0249a0001c0001t0001g0251others(87): Show | 106 | 414 | 0.2560 | -63 | c.178 others(80): Show |
IYD | ENSG00000009765.15 | transcript | ENST00000344419.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
KCNJ6_chr21_37602373_37921457 | 37704236 | TCATCTAG others(56): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00558.hp2 others(30): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0020a0001c0001t0123a0001c0001t0163others(29): Show | a0001c0001t0020g0023a0001c0001t0123g0008a0001c0001t0163g0056others(30): Show | 33 | 198 | 0.1667 | -63 | c.946 others(80): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 3/3 | chr21 | TogoVar | ||||||
KCNK2_chr1_215077737_215242090 | 215093764 | AATATAAA others(56): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00544.hp2 others(88): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(25): Show | a0001c0001t0001g0013a0001c0001t0001g0121a0001c0001t0001g0142others(88): Show | 91 | 260 | 0.3500 | -63 | c.357 others(80): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |