| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DIP2C_chr10_269201_694668 | 322266 | C | CGGGGGCT others(242): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0017 | a0001c0017t0002 | a0001c0017t0002g0064 | 1 | 88 | 0.0114 | 249 | c.392 others(268): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 31/36 | chr10 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 478386 | G | GGGGAGAG others(242): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0030 | 1 | 88 | 0.0114 | 249 | c.158 others(266): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | ||||||
| DNAH17_chr17_78418697_78582396 | 78478154 | C | CCATTACC others(242): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02717.hp2 HG02895.hp2 others(4): Show |
a0003a0011a0095others(2): Show | a0003c0006a0011c0007a0095c0088others(2): Show | a0003c0006t0001a0011c0007t0002a0095c0088t0002others(2): Show | a0003c0006t0001g0148a0003c0006t0001g0149a0011c0007t0002g0045others(4): Show | 7 | 252 | 0.0278 | 249 | c.799 others(266): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 51/80 | chr17 | TogoVar | ||||||
| DNAH8_chr6_38710311_39035792 | 38964350 | G | GGACGGGG others(242): Show |
intron_variant | MODIFIER | HG02165.hp1 HG02683.hp1 HG04199.hp1 others(1): Show |
a0001a0002a0007 | a0001c0001a0002c0004a0007c0012 | a0001c0001t0001a0002c0004t0001a0007c0012t0001 | a0001c0001t0001g0018a0001c0001t0001g0094a0002c0004t0001g0008others(1): Show | 4 | 284 | 0.0141 | 249 | c.124 others(270): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 82/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| DNAI7_chr12_25103289_25200160 | 25174371 | G | GATATATA others(242): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01106.hp1 HG01192.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041a0001c0001t0001g0059a0001c0001t0001g0067others(18): Show | 21 | 336 | 0.0625 | 249 | c.22- others(266): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
| DNAI7_chr12_25103289_25200160 | 25174371 | G | GATATATA others(242): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01496.hp1 HG02056.hp1 others(1): Show |
a0001a0007 | a0001c0001a0007c0012 | a0001c0001t0001a0007c0012t0001 | a0001c0001t0001g0047a0001c0001t0001g0060a0001c0001t0001g0068others(1): Show | 4 | 336 | 0.0119 | 249 | c.22- others(266): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
| DNAJB6_chr7_157332004_157422439 | 157369638 | T | TTTCTTCA others(242): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0237 | 1 | 372 | 0.0027 | 249 | c.346 others(266): Show |
DNAJB6 | ENSG00000105993.15 | transcript | ENST00000262177.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| DNAJB6_chr7_157332004_157422439 | 157369659 | C | CAGGCCCC others(242): Show |
intron_variant | MODIFIER | NA18950.hp1 NA18970.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0352a0001c0001t0001g0356 | 2 | 372 | 0.0054 | 249 | c.346 others(266): Show |
DNAJB6 | ENSG00000105993.15 | transcript | ENST00000262177.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| DOCK8_chr9_209865_470255 | 400869 | T | TCACCATC others(242): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0031 | a0031c0121 | a0031c0121t0009 | a0031c0121t0009g0200 | 1 | 256 | 0.0039 | 249 | c.323 others(268): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| DOCK8_chr9_209865_470255 | 400981 | C | CACCATCA others(242): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0002 | a0002c0012 | a0002c0012t0001 | a0002c0012t0001g0074 | 1 | 256 | 0.0039 | 249 | c.323 others(268): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| DPEP1_chr16_89608642_89643433 | 89634970 | C | CCCTTTCC others(242): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 250 | 0.0040 | 249 | c.105 others(264): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
| DYM_chr18_49031387_49465645 | 49440616 | T | TATATGAC others(242): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0097 | 1 | 290 | 0.0035 | 249 | c.-53 others(268): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 1/17 | chr18 | TogoVar | ||||||
| EHMT1_chr9_137614005_137841127 | 137781232 | G | GGTGATGA others(242): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0153 | 1 | 170 | 0.0059 | 249 | c.227 others(268): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 14/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| EIF3B_chr7_2349827_2385745 | 2378433 | C | CGTGAGCT others(242): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 384 | 0.0026 | 249 | c.215 others(266): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| ELOVL6_chr4_110040846_110203615 | 110083967 | G | GATATAAC others(242): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02451.hp1 HG02615.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0014a0001c0001t0037others(1): Show | a0001c0001t0007g0048a0001c0001t0007g0078a0001c0001t0007g0079others(10): Show | 13 | 338 | 0.0385 | 249 | c.221 others(268): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | ||||||
| ELOVL6_chr4_110040846_110203615 | 110083967 | G | GATATAAC others(242): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0157 | 1 | 338 | 0.0030 | 249 | c.221 others(268): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | ||||||
| ENPP3_chr6_131632302_131752410 | 131692861 | A | ATATATAT others(242): Show |
intron_variant | MODIFIER | HG04184.hp1 NA19077.hp2 NA21309.hp1 |
a0001a0011 | a0001c0002a0011c0015 | a0001c0002t0001a0011c0015t0001 | a0001c0002t0001g0071a0001c0002t0001g0085a0011c0015t0001g0094 | 3 | 278 | 0.0108 | 249 | c.128 others(266): Show |
ENPP3 | ENSG00000154269.15 | transcript | ENST00000357639.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| ERFL_chr19_41902704_41933449 | 41914546 | T | TTCCCTCC others(242): Show |
intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 | 1 | 330 | 0.0030 | 249 | c.-13 others(266): Show |
ERFL | ENSG00000268041.3 | transcript | ENST00000597630.3 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
| ERICH1_chr8_659200_736224 | 676310 | C | CGAGGACA others(242): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0236 | 1 | 378 | 0.0027 | 249 | c.305 others(266): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | ||||||
| ERICH1_chr8_659200_736224 | 688310 | C | CCCGGCCC others(242): Show |
intron_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0288 | 1 | 378 | 0.0027 | 249 | c.304 others(266): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | ||||||
| ESR2_chr14_64223317_64299371 | 64224413 | A | ATGCATGA others(242): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0046 | a0001c0001t0016g0357a0001c0001t0046g0355 | 2 | 368 | 0.0054 | 249 | c.*87 others(260): Show |
ESR2 | ENSG00000140009.19 | transcript | ENST00000341099.6 | protein_coding | 3903 | chr14 | TogoVar | ||||||
| ETFB_chr19_51340169_51371388 | 51345864 | T | TGAACCCT others(242): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02071.hp1 HG02148.hp1 others(16): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0191a0001c0001t0001g0231a0001c0003t0001g0016others(14): Show | 19 | 436 | 0.0436 | 249 | c.598 others(264): Show |
ETFB | ENSG00000105379.10 | transcript | ENST00000309244.9 | protein_coding | 5/5 | chr19 | TogoVar | ||||||
| EXD3_chr9_137301896_137428162 | 137329464 | A | ACTACACG others(242): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 82 | 0.0122 | 249 | c.199 others(268): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | ||||||
| EXOC2_chr6_480154_698139 | 519326 | C | CCACCGAG others(242): Show |
intron_variant | MODIFIER | NA18981.hp2 NA19003.hp2 NA19085.hp2 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0002t0021a0001c0004t0001 | a0001c0002t0001g0066a0001c0002t0021g0037a0001c0004t0001g0213 | 3 | 272 | 0.0110 | 249 | c.238 others(270): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | ||||||
| EXOC3L4_chr14_103089725_103115559 | 103109689 | C | CCTCCCTC others(242): Show |
intron_variant | MODIFIER | NA19080.hp2 | a0004 | a0004c0042 | a0004c0042t0002 | a0004c0042t0002g0283 | 1 | 404 | 0.0025 | 249 | c.197 others(266): Show |
EXOC3L4 | ENSG00000205436.8 | transcript | ENST00000688303.1 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| FAM240C_chr2_241888988_241905464 | 241896517 | T | TGGGGTGT others(242): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 37 | 0.0270 | 249 | c.161 others(264): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | TogoVar | ||||||
| FANCM_chr14_45130930_45205890 | 45174665 | T | TGAAAGAG others(242): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 238 | 0.0042 | 249 | c.231 others(266): Show |
FANCM | ENSG00000187790.12 | transcript | ENST00000267430.10 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| FARP1_chr13_98138094_98460176 | 98198909 | C | CCTGCTCC others(242): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0047 | 1 | 218 | 0.0046 | 249 | c.-23 others(268): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| FARP1_chr13_98138094_98460176 | 98198909 | C | CCTGCTCC others(242): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0138 | 1 | 218 | 0.0046 | 249 | c.-23 others(268): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| FKRP_chr19_46741057_46763575 | 46753337 | A | ATCCCAGC others(242): Show |
intron_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 430 | 0.0023 | 249 | c.-39 others(266): Show |
FKRP | ENSG00000181027.11 | transcript | ENST00000318584.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| FLT3_chr13_27998274_28105576 | 27998752 | A | ATATATAT others(242): Show |
downstream_gene_variant | MODIFIER | HG02922.hp2 | a0015 | a0015c0023 | a0015c0023t0004 | a0015c0023t0004g0038 | 1 | 292 | 0.0034 | 249 | c.*52 others(260): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4521 | chr13 | TogoVar | ||||||
| FOXP1_chr3_70949708_71588728 | 71327315 | G | GAAGCAGC others(242): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0009 | 1 | 96 | 0.0104 | 249 | c.-72 others(268): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 4/20 | chr3 | TogoVar | ||||||
| FOXP1_chr3_70949708_71588728 | 71327315 | G | GAAGCAGC others(242): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0018 | a0001c0001t0017g0052a0001c0001t0018g0032 | 2 | 96 | 0.0208 | 249 | c.-72 others(268): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 4/20 | chr3 | TogoVar | ||||||
| FRMPD4_chrX_12133473_12729523 | 12331774 | A | AGTATATA others(242): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02922.hp2 HG03209.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0006a0002c0003t0001 | a0001c0001t0002g0022a0001c0001t0006g0174a0002c0003t0001g0085 | 3 | 174 | 0.0172 | 249 | c.42- others(268): Show |
FRMPD4 | ENSG00000169933.17 | transcript | ENST00000675598.1 | protein_coding | 1/16 | chrX | TogoVar | ||||||
| GABRA3_chrX_152161234_152456315 | 152182716 | A | ATACACTG others(242): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 | 1 | 204 | 0.0049 | 249 | c.114 others(268): Show |
GABRA3 | ENSG00000011677.13 | transcript | ENST00000370314.9 | protein_coding | 9/9 | chrX | TogoVar | ||||||
| GABRD_chr1_2014345_2035758 | 2019220 | C | CGGGGGGC others(242): Show |
upstream_gene_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0001 | 1 | 364 | 0.0028 | 249 | c.-20 others(258): Show |
GABRD | ENSG00000187730.9 | transcript | ENST00000378585.7 | protein_coding | 124 | chr1 | TogoVar | ||||||
| GABRD_chr1_2014345_2035758 | 2019220 | C | CGGGGGGC others(242): Show |
upstream_gene_variant | MODIFIER | NA19055.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0001 | 1 | 364 | 0.0028 | 249 | c.-20 others(258): Show |
GABRD | ENSG00000187730.9 | transcript | ENST00000378585.7 | protein_coding | 124 | chr1 | TogoVar | ||||||
| GPA33_chr1_167047836_167095377 | 167056759 | G | GTGTGTGT others(242): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02280.hp2 HG02647.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0218a0001c0001t0002g0030a0001c0001t0002g0216others(5): Show | 10 | 370 | 0.0270 | 249 | c.572 others(264): Show |
GPA33 | ENSG00000143167.12 | transcript | ENST00000367868.4 | protein_coding | 4/6 | chr1 | TogoVar | ||||||
| GPR137B_chr1_236137539_236213907 | 236186262 | T | TTATATAT others(242): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 386 | 0.0026 | 249 | c.966 others(266): Show |
GPR137B | ENSG00000077585.14 | transcript | ENST00000366592.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| GPR137B_chr1_236137539_236213907 | 236186262 | T | TTATATAT others(242): Show |
intron_variant | MODIFIER | NA18947.hp1 NA19010.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168a0001c0001t0001g0193 | 2 | 386 | 0.0052 | 249 | c.966 others(266): Show |
GPR137B | ENSG00000077585.14 | transcript | ENST00000366592.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| GPR137B_chr1_236137539_236213907 | 236186262 | T | TTATATAT others(242): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 386 | 0.0026 | 249 | c.966 others(266): Show |
GPR137B | ENSG00000077585.14 | transcript | ENST00000366592.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| GZMM_chr19_539053_554922 | 550974 | T | TGTCCCCA others(242): Show |
downstream_gene_variant | MODIFIER | HG01192.hp1 HG02132.hp2 HG02145.hp1 others(11): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0004 | a0001c0001t0001a0002c0003t0001a0003c0004t0001 | a0001c0001t0001g0087a0001c0001t0001g0250a0002c0003t0001g0003others(10): Show | 14 | 398 | 0.0352 | 249 | c.*11 others(260): Show |
GZMM | ENSG00000197540.8 | transcript | ENST00000264553.6 | protein_coding | 1053 | chr19 | TogoVar | ||||||
| HIVEP3_chr1_41501365_41923922 | 41544953 | T | TCTACCAC others(242): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02615.hp1 HG02895.hp2 others(1): Show |
a0004a0006 | a0004c0018a0006c0012 | a0004c0018t0009a0006c0012t0042a0006c0012t0050 | a0004c0018t0009g0056a0004c0018t0009g0058a0006c0012t0042g0052others(1): Show | 4 | 134 | 0.0299 | 249 | c.520 others(270): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 5/8 | chr1 | TogoVar | ||||||
| HPCAL1_chr2_10297904_10432604 | 10399220 | C | CCACCACC others(242): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0005a0001c0001t0003g0006 | 2 | 314 | 0.0064 | 249 | c.-25 others(266): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| IGF2R_chr6_159964082_160116504 | 159980227 | G | GAAAGAAA others(242): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0006 | a0006c0025 | a0006c0025t0009 | a0006c0025t0009g0139 | 1 | 310 | 0.0032 | 249 | c.149 others(268): Show |
IGF2R | ENSG00000197081.16 | transcript | ENST00000356956.6 | protein_coding | 1/47 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| IL18R1_chr2_102350796_102403776 | 102352768 | T | TATAATAT others(242): Show |
upstream_gene_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 366 | 0.0027 | 249 | c.-36 others(260): Show |
IL18R1 | ENSG00000115604.12 | transcript | ENST00000233957.7 | protein_coding | 3027 | chr2 | TogoVar | ||||||
| IL1RL1_chr2_102306563_102357037 | 102352768 | T | TATAATAT others(242): Show |
downstream_gene_variant | MODIFIER | NA19056.hp1 | a0011 | a0011c0015 | a0011c0015t0001 | a0011c0015t0001g0158 | 1 | 348 | 0.0029 | 249 | c.*84 others(258): Show |
IL1RL1 | ENSG00000115602.17 | transcript | ENST00000233954.6 | protein_coding | 732 | chr2 | TogoVar | ||||||
| IYD_chr6_150364012_150410969 | 150372601 | G | GTGTGTCC others(242): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0099a0001c0001t0008g0100 | 2 | 414 | 0.0048 | 249 | c.178 others(266): Show |
IYD | ENSG00000009765.15 | transcript | ENST00000344419.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| IYD_chr6_150364012_150410969 | 150372601 | G | GTGTGTCC others(242): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0130 | 1 | 414 | 0.0024 | 249 | c.178 others(266): Show |
IYD | ENSG00000009765.15 | transcript | ENST00000344419.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| IZUMO3_chr9_24537952_24550897 | 24546517 | T | TTTTCTTT others(242): Show |
upstream_gene_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 426 | 0.0024 | 249 | c.-86 others(258): Show |
IZUMO3 | ENSG00000205442.13 | transcript | ENST00000543880.7 | protein_coding | 621 | chr9 | TogoVar |