| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DNAI7_chr12_25103289_25200160 | 25106550 | G | GTACAGTA others(230): Show |
downstream_gene_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 336 | 0.0030 | 237 | c.*19 others(248): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 1738 | chr12 | TogoVar | ||||||
| DOCK8_chr9_209865_470255 | 400226 | C | CCTCCACC others(230): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0002 | a0002c0114 | a0002c0114t0001 | a0002c0114t0001g0015 | 1 | 256 | 0.0039 | 237 | c.323 others(254): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| DOCK8_chr9_209865_470255 | 400381 | A | ACCACCAC others(230): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0003 | a0003c0138 | a0003c0138t0001 | a0003c0138t0001g0143 | 1 | 256 | 0.0039 | 237 | c.323 others(256): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | chr9 | TogoVar | ||||||
| DPEP1_chr16_89608642_89643433 | 89618964 | C | CTCCCTGC others(230): Show |
intron_variant | MODIFIER | NA19080.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0199 | 1 | 250 | 0.0040 | 237 | c.-10 others(256): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | chr16 | TogoVar | ||||||
| DPEP1_chr16_89608642_89643433 | 89634700 | C | CTCCTTTC others(230): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 250 | 0.0040 | 237 | c.105 others(254): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
| DPP6_chr7_154047398_154899285 | 154778852 | C | CCACCACC others(230): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0002 | a0002c0004 | a0002c0004t0006 | a0002c0004t0006g0028 | 1 | 38 | 0.0263 | 237 | c.113 others(256): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 10/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| DVL1_chr1_1330278_1354418 | 1351426 | G | GGAGGGGG others(230): Show |
upstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0010 | 1 | 344 | 0.0029 | 237 | c.-23 others(248): Show |
DVL1 | ENSG00000107404.21 | transcript | ENST00000378888.10 | protein_coding | 2009 | chr1 | TogoVar | ||||||
| DVL1_chr1_1330278_1354418 | 1351426 | G | GGAGGGGT others(230): Show |
upstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0010 | 1 | 344 | 0.0029 | 237 | c.-23 others(248): Show |
DVL1 | ENSG00000107404.21 | transcript | ENST00000378888.10 | protein_coding | 2009 | chr1 | TogoVar | ||||||
| EIF4G3_chr1_20801479_21181897 | 21179800 | A | ATATAATA others(230): Show |
upstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0206 | 1 | 312 | 0.0032 | 237 | c.-35 others(248): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 2904 | chr1 | TogoVar | ||||||
| ELOVL6_chr4_110040846_110203615 | 110084113 | T | TATTTACA others(230): Show |
intron_variant | MODIFIER | NA18946.hp2 NA19084.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213a0001c0001t0001g0279 | 2 | 338 | 0.0059 | 237 | c.221 others(256): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | ||||||
| EML1_chr14_99788413_99947060 | 99923560 | T | TGTTGAAT others(230): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0004 | a0004c0008 | a0004c0008t0004 | a0004c0008t0004g0268 | 1 | 288 | 0.0035 | 237 | c.190 others(256): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| EML1_chr14_99788413_99947060 | 99923560 | T | TGTTGAAT others(230): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0003 | a0003c0015 | a0003c0015t0001 | a0003c0015t0001g0013 | 1 | 288 | 0.0035 | 237 | c.190 others(256): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| EML1_chr14_99788413_99947060 | 99923560 | T | TGTTGAAT others(230): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0196 | 1 | 288 | 0.0035 | 237 | c.190 others(256): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| EML1_chr14_99788413_99947060 | 99923592 | T | TCAATCGA others(230): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0237 | 1 | 288 | 0.0035 | 237 | c.190 others(256): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| ENTR1_chr9_136396922_136415614 | 136403390 | C | CCCAGGGA others(230): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 412 | 0.0024 | 237 | c.120 others(254): Show |
ENTR1 | ENSG00000165689.17 | transcript | ENST00000357365.8 | protein_coding | 9/9 | chr9 | TogoVar | ||||||
| EXD3_chr9_137301896_137428162 | 137328596 | A | ACGGGAGC others(230): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0008 | a0008c0020 | a0008c0020t0001 | a0008c0020t0001g0005 | 1 | 82 | 0.0122 | 237 | c.199 others(256): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | ||||||
| EXD3_chr9_137301896_137428162 | 137328596 | A | ACGGGAGC others(230): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0009 | a0009c0008 | a0009c0008t0001 | a0009c0008t0001g0013 | 1 | 82 | 0.0122 | 237 | c.199 others(256): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | ||||||
| FARP1_chr13_98138094_98460176 | 98198909 | C | CCTGCTCC others(230): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(37): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(23): Show | a0001c0001t0001g0059a0001c0001t0002g0040a0001c0001t0002g0096others(37): Show | 40 | 218 | 0.1835 | 237 | c.-23 others(256): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| FER1L5_chr2_96637764_96709883 | 96659509 | C | CTTTCTTT others(230): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0008 | a0008c0008 | a0008c0008t0001 | a0008c0008t0001g0134 | 1 | 226 | 0.0044 | 237 | c.748 others(252): Show |
FER1L5 | ENSG00000249715.13 | transcript | ENST00000624922.6 | protein_coding | 9/52 | chr2 | TogoVar | ||||||
| FGFR4_chr5_177081915_177103144 | 177096905 | T | TTCCTCCT others(230): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 372 | 0.0027 | 237 | c.215 others(254): Show |
FGFR4 | ENSG00000160867.15 | transcript | ENST00000292408.9 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| FGFR4_chr5_177081915_177103144 | 177096905 | T | TTCCTCCT others(230): Show |
intron_variant | MODIFIER | HG03471.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 2 | 372 | 0.0054 | 237 | c.215 others(254): Show |
FGFR4 | ENSG00000160867.15 | transcript | ENST00000292408.9 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| FGFR4_chr5_177081915_177103144 | 177096905 | T | TTCCTCCT others(230): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00609.hp2 HG00621.hp1 others(47): Show |
a0001a0014 | a0001c0001a0014c0021 | a0001c0001t0001a0001c0001t0010a0014c0021t0001 | a0001c0001t0001g0001a0001c0001t0001g0022a0001c0001t0001g0028others(13): Show | 50 | 372 | 0.1344 | 237 | c.215 others(254): Show |
FGFR4 | ENSG00000160867.15 | transcript | ENST00000292408.9 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| FKBP2_chr11_64236095_64249132 | 64237126 | G | GAGAGAGA others(230): Show |
upstream_gene_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 332 | 0.0030 | 237 | c.-40 others(248): Show |
FKBP2 | ENSG00000173486.14 | transcript | ENST00000309366.9 | protein_coding | 3968 | chr11 | TogoVar | ||||||
| FNDC11_chr20_63549159_63561695 | 63559520 | C | CAGTCAGG others(230): Show |
downstream_gene_variant | MODIFIER | HG01081.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 416 | 0.0048 | 237 | c.*29 others(248): Show |
FNDC11 | ENSG00000125531.7 | transcript | ENST00000370097.2 | protein_coding | 2826 | chr20 | TogoVar | ||||||
| FOXP1_chr3_70949708_71588728 | 71327315 | G | GAAGCAGC others(230): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02486.hp1 HG02809.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0026a0001c0001t0029a0001c0001t0033others(1): Show | a0001c0001t0026g0083a0001c0001t0029g0071a0001c0001t0033g0057others(1): Show | 4 | 96 | 0.0417 | 237 | c.-72 others(256): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 4/20 | chr3 | TogoVar | ||||||
| GAL3ST2_chr2_241771822_241809287 | 241805669 | A | ACCTTCCC others(230): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 314 | 0.0032 | 237 | c.*15 others(248): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1383 | chr2 | TogoVar | ||||||
| GAL3ST2_chr2_241771822_241809287 | 241807783 | C | CAACCCAG others(230): Show |
downstream_gene_variant | MODIFIER | NA18954.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0037 | 1 | 314 | 0.0032 | 237 | c.*36 others(248): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3497 | chr2 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132233302 | C | CGTGGAGT others(230): Show |
intron_variant | MODIFIER | NA19007.hp1 NA19063.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0161a0001c0002t0001g0134 | 2 | 183 | 0.0109 | 237 | c.107 others(258): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| GALR1_chr18_77244848_77282900 | 77252881 | T | TCACCACC others(230): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0203 | 1 | 366 | 0.0027 | 237 | c.666 others(254): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| GPR35_chr2_240620480_240638159 | 240625782 | A | AGGGTGAG others(230): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0119 | 1 | 400 | 0.0025 | 237 | c.-5+ others(250): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| GRTP1_chr13_113319163_113369130 | 113364444 | A | AGGAGGGG others(230): Show |
upstream_gene_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0135 | 1 | 288 | 0.0035 | 237 | c.-39 others(246): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 315 | chr13 | TogoVar | ||||||
| GRTP1_chr13_113319163_113369130 | 113364444 | A | AGGAGGGG others(230): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG03704.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046a0001c0001t0001g0081 | 2 | 288 | 0.0069 | 237 | c.-39 others(246): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 315 | chr13 | TogoVar | ||||||
| GRTP1_chr13_113319163_113369130 | 113364444 | A | AGGAGGGG others(230): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 HG01071.hp1 HG01993.hp1 others(9): Show |
a0001a0004a0005 | a0001c0001a0004c0003a0005c0007 | a0001c0001t0001a0001c0001t0003a0004c0003t0002others(1): Show | a0001c0001t0001g0074a0001c0001t0001g0075a0001c0001t0001g0085others(9): Show | 12 | 288 | 0.0417 | 237 | c.-39 others(246): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 315 | chr13 | TogoVar | ||||||
| GRTP1_chr13_113319163_113369130 | 113364444 | A | AGGAGGGG others(230): Show |
upstream_gene_variant | MODIFIER | HG01346.hp2 HG02148.hp2 HG02300.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0047a0001c0001t0001g0087a0001c0001t0001g0089others(1): Show | 4 | 288 | 0.0139 | 237 | c.-39 others(246): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 315 | chr13 | TogoVar | ||||||
| GRTP1_chr13_113319163_113369130 | 113364444 | A | AGGAGGGG others(230): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 288 | 0.0035 | 237 | c.-39 others(246): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 315 | chr13 | TogoVar | ||||||
| GSE1_chr16_85608322_85681200 | 85653216 | C | CTCCCCCC others(230): Show |
intron_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0033 | 1 | 290 | 0.0035 | 237 | c.427 others(254): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 3/15 | chr16 | TogoVar | ||||||
| HELZ2_chr20_63553086_63579239 | 63559520 | C | CAGTCAGG others(230): Show |
intron_variant | MODIFIER | HG01081.hp2 NA18522.hp2 |
a0021 | a0021c0031 | a0021c0031t0003a0021c0031t0088 | a0021c0031t0003g0153a0021c0031t0088g0152 | 2 | 390 | 0.0051 | 237 | c.782 others(254): Show |
HELZ2 | ENSG00000130589.16 | transcript | ENST00000467148.2 | protein_coding | 19/19 | chr20 | TogoVar | ||||||
| HERC2_chr15_28106040_28327179 | 28184935 | T | TTGTAGCG others(230): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0004 | a0004c0072 | a0004c0072t0002 | a0004c0072t0002g0242 | 1 | 250 | 0.0040 | 237 | c.882 others(256): Show |
HERC2 | ENSG00000128731.18 | transcript | ENST00000261609.13 | protein_coding | 56/92 | chr15 | TogoVar | ||||||
| HERC2_chr15_28106040_28327179 | 28184935 | T | TTGTAGGG others(230): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 250 | 0.0040 | 237 | c.882 others(256): Show |
HERC2 | ENSG00000128731.18 | transcript | ENST00000261609.13 | protein_coding | 56/92 | chr15 | TogoVar | ||||||
| HERC2_chr15_28106040_28327179 | 28184935 | T | TTGTAGGG others(230): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0021 | a0021c0033 | a0021c0033t0001 | a0021c0033t0001g0167 | 1 | 250 | 0.0040 | 237 | c.882 others(256): Show |
HERC2 | ENSG00000128731.18 | transcript | ENST00000261609.13 | protein_coding | 56/92 | chr15 | TogoVar | ||||||
| HERC2_chr15_28106040_28327179 | 28184935 | T | TTGTAGGG others(230): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00438.hp1 others(239): Show |
a0001a0002a0003others(29): Show | a0001c0001a0001c0003a0001c0005others(66): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(71): Show | a0001c0001t0001g0036a0001c0001t0001g0098a0001c0001t0001g0099others(239): Show | 242 | 250 | 0.9680 | 237 | c.882 others(256): Show |
HERC2 | ENSG00000128731.18 | transcript | ENST00000261609.13 | protein_coding | 56/92 | chr15 | TogoVar | ||||||
| HERC2_chr15_28106040_28327179 | 28184935 | T | TTGTAGGG others(230): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0003 | a0003c0068 | a0003c0068t0006 | a0003c0068t0006g0249 | 1 | 250 | 0.0040 | 237 | c.882 others(256): Show |
HERC2 | ENSG00000128731.18 | transcript | ENST00000261609.13 | protein_coding | 56/92 | chr15 | TogoVar | ||||||
| HERC2_chr15_28106040_28327179 | 28184935 | T | TTGTAGGG others(230): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02886.hp2 |
a0001 | a0001c0007 | a0001c0007t0004 | a0001c0007t0004g0171a0001c0007t0004g0172 | 2 | 250 | 0.0080 | 237 | c.882 others(256): Show |
HERC2 | ENSG00000128731.18 | transcript | ENST00000261609.13 | protein_coding | 56/92 | chr15 | TogoVar | ||||||
| HRH3_chr20_62209960_62225278 | 62213122 | G | GGGTGGGG others(230): Show |
downstream_gene_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 368 | 0.0027 | 237 | c.*28 others(248): Show |
HRH3 | ENSG00000101180.17 | transcript | ENST00000340177.10 | protein_coding | 1837 | chr20 | TogoVar | ||||||
| IFNAR1_chr21_33319970_33364864 | 33322468 | A | AATATATA others(230): Show |
upstream_gene_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 323 | 0.0031 | 237 | c.-25 others(248): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2501 | chr21 | TogoVar | ||||||
| IL18R1_chr2_102350796_102403776 | 102352893 | A | AATATTAT others(230): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 HG00735.hp2 HG01106.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023a0001c0001t0001g0024a0001c0001t0001g0062others(1): Show | 5 | 366 | 0.0137 | 237 | c.-35 others(248): Show |
IL18R1 | ENSG00000115604.12 | transcript | ENST00000233957.7 | protein_coding | 2902 | chr2 | TogoVar | ||||||
| IL1RL1_chr2_102306563_102357037 | 102352893 | A | AATATTAT others(230): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 HG00735.hp1 HG01106.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0117a0001c0001t0001g0125others(1): Show | 7 | 348 | 0.0201 | 237 | c.*97 others(246): Show |
IL1RL1 | ENSG00000115602.17 | transcript | ENST00000233954.6 | protein_coding | 857 | chr2 | TogoVar | ||||||
| INPP5A_chr10_132532787_132788480 | 132775107 | G | GGGAGGAG others(230): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 204 | 0.0049 | 237 | c.978 others(254): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| IRAG2_chr12_25047706_25113335 | 25077266 | A | AATATATA others(230): Show |
intron_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0219 | 1 | 344 | 0.0029 | 237 | c.25- others(252): Show |
IRAG2 | ENSG00000118308.16 | transcript | ENST00000556887.6 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| IRAG2_chr12_25047706_25113335 | 25077266 | A | AATATATA others(230): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0269 | 1 | 344 | 0.0029 | 237 | c.25- others(252): Show |
IRAG2 | ENSG00000118308.16 | transcript | ENST00000556887.6 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |