view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
INS_chr11_2154779_2166209 | 2161948 | C | CACCCCCT others(22): Show |
upstream_gene_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 13 | 0.0769 | 29 | c.-79 others(38): Show |
INS | ENSG00000254647.7 | transcript | ENST00000381330.5 | protein_coding | 740 | chr11 | TogoVar | |||||||
INS_chr11_2154779_2166209 | 2161956 | T | TCCCCAGG others(22): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 374 | 0.0027 | 29 | c.-80 others(38): Show |
INS | ENSG00000254647.7 | transcript | ENST00000381330.5 | protein_coding | 748 | chr11 | TogoVar | |||||||
INTS15_chr7_6585021_6613726 | 6613356 | T | TATATATA others(22): Show |
downstream_gene_variant | MODIFIER | HG02129.hp2 NA19068.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0144 |
2 | 289 | 0.0069 | 29 | c.*51 others(40): Show |
INTS15 | ENSG00000146576.13 | transcript | ENST00000344417.10 | protein_coding | 4631 | chr7 | TogoVar | |||||||
IPCEF1_chr6_154149496_154361803 | 154313067 | C | CAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0138 a0001c0001t0004g0140 |
2 | 38 | 0.0526 | 29 | c.-61 others(48): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 1/11 | chr6 | TogoVar | |||||||
IPO11_chr5_62407763_62633582 | 62470816 | C | CTTTTTTT others(22): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02818.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0004 | a0001c0001t0001g0134 a0001c0003t0004g0070 |
2 | 16 | 0.1250 | 29 | c.708 others(44): Show |
IPO11 | ENSG00000086200.17 | transcript | ENST00000325324.11 | protein_coding | 7/29 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
IPO5_chr13_97948675_98029296 | 98010780 | C | CTTTTTTT others(22): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01070.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0232 a0001c0001t0001g0235 |
2 | 97 | 0.0206 | 29 | c.205 others(46): Show |
IPO5 | ENSG00000065150.21 | transcript | ENST00000651721.2 | protein_coding | 20/28 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
IPO5_chr13_97948675_98029296 | 98025918 | T | TTAAGCAT others(22): Show |
downstream_gene_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0294 | 1 | 378 | 0.0026 | 29 | c.*40 others(40): Show |
IPO5 | ENSG00000065150.21 | transcript | ENST00000651721.2 | protein_coding | 1623 | chr13 | TogoVar | |||||||
IPO7_chr11_9379652_9453127 | 9397341 | A | AAAAAAAA others(22): Show |
intron_variant | MODIFIER | NA18966.hp1 NA19001.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0226 a0001c0001t0002g0237 |
2 | 26 | 0.0769 | 29 | c.85- others(44): 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(22): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0248 | 1 | 25 | 0.0400 | 29 | c.85- others(44): 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(22): Show |
intron_variant | MODIFIER | NA18972.hp1 NA18978.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0192 a0001c0001t0002g0257 |
2 | 26 | 0.0769 | 29 | c.85- others(44): 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(22): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0235 | 1 | 25 | 0.0400 | 29 | c.85- others(44): 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(22): Show |
intron_variant | MODIFIER | HG00642.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0145 a0001c0001t0003g0302 |
2 | 26 | 0.0769 | 29 | c.85- others(44): 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(22): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0262 | 1 | 25 | 0.0400 | 29 | c.85- others(44): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
IPO7_chr11_9379652_9453127 | 9436868 | A | ATATATAT others(22): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 217 | 0.0046 | 29 | c.226 others(46): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
IQANK1_chr8_143729139_143795645 | 143747966 | T | TCCTTTCC others(22): Show |
intron_variant | MODIFIER | HG02572.hp1 HG03453.hp1 |
a0008a0009 | a0008c0008a0009c0009 | a0008c0008t0001a0009c0009t0001 | a0008c0008t0001g0032 a0009c0009t0001g0030 |
2 | 343 | 0.0058 | 29 | c.175 others(46): Show |
IQANK1 | ENSG00000203499.12 | transcript | ENST00000527139.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
IQANK1_chr8_143729139_143795645 | 143748848 | A | AATATATA others(22): Show |
intron_variant | MODIFIER | HG01071.hp1 HG06807.hp2 NA20752.hp1 |
a0004a0006 | a0004c0004a0006c0006 | a0004c0004t0001a0006c0006t0001 | a0004c0004t0001g0177 a0004c0004t0001g0179 a0006c0006t0001g0186 |
3 | 342 | 0.0088 | 29 | c.175 others(46): Show |
IQANK1 | ENSG00000203499.12 | transcript | ENST00000527139.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
IQCA1_chr2_236319151_236512476 | 236491029 | G | GTGTATAT others(22): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00735.hp2 HG01106.hp2 others(3): Show |
a0001a0004 | a0001c0001a0004c0010 | a0001c0001t0001a0001c0001t0004a0004c0010t0001 | a0001c0001t0001g0096 a0001c0001t0001g0132 a0001c0001t0001g0145 others(3): Show |
6 | 206 | 0.0291 | 29 | c.456 others(46): Show |
IQCA1 | ENSG00000132321.17 | transcript | ENST00000409907.8 | protein_coding | 3/18 | chr2 | TogoVar | |||||||
IQCA1_chr2_236319151_236512476 | 236491142 | G | GTATATAT others(22): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00642.hp2 HG01891.hp1 others(10): Show |
a0001 | a0001c0001a0001c0018 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0038 a0001c0001t0001g0140 a0001c0001t0001g0181 others(10): Show |
13 | 142 | 0.0915 | 29 | c.456 others(46): Show |
IQCA1 | ENSG00000132321.17 | transcript | ENST00000409907.8 | protein_coding | 3/18 | chr2 | TogoVar | |||||||
IQCM_chr4_149346709_149820843 | 149481696 | G | GTTTTTTT others(22): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0194 | 1 | 101 | 0.0099 | 29 | c.122 others(50): Show |
IQCM | ENSG00000234828.9 | transcript | ENST00000636793.2 | protein_coding | 12/13 | chr4 | TogoVar | |||||||
IQGAP1_chr15_90383242_90507239 | 90496306 | C | CTTTTTTT others(22): Show |
intron_variant | MODIFIER | HG02809.hp2 HG02976.hp1 HG03130.hp1 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0011 | a0001c0002t0003g0312 a0001c0002t0011g0281 a0001c0002t0011g0285 |
3 | 62 | 0.0484 | 29 | c.475 others(46): Show |
IQGAP1 | ENSG00000140575.13 | transcript | ENST00000268182.10 | protein_coding | 36/37 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
IQGAP2_chr5_76398285_76713132 | 76610050 | T | TCTCTCTC others(22): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0149 | 1 | 147 | 0.0068 | 29 | c.135 others(46): Show |
IQGAP2 | ENSG00000145703.17 | transcript | ENST00000274364.11 | protein_coding | 12/35 | chr5 | TogoVar | |||||||
IQGAP2_chr5_76398285_76713132 | 76610057 | T | TCTCTCTC others(22): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0003 | a0003c0015 | a0003c0015t0001 | a0003c0015t0001g0153 | 1 | 220 | 0.0045 | 29 | c.135 others(46): Show |
IQGAP2 | ENSG00000145703.17 | transcript | ENST00000274364.11 | protein_coding | 12/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
IQGAP2_chr5_76398285_76713132 | 76644295 | C | CTTTTTTT others(22): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01257.hp2 HG02258.hp2 others(1): Show |
a0001 | a0001c0002a0001c0009 | a0001c0002t0003a0001c0009t0003a0001c0009t0006 | a0001c0002t0003g0172 a0001c0009t0003g0108 a0001c0009t0003g0211 others(1): Show |
4 | 60 | 0.0667 | 29 | c.209 others(48): Show |
IQGAP2 | ENSG00000145703.17 | transcript | ENST00000274364.11 | protein_coding | 17/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
IQSEC3_chr12_61767_183455 | 163200 | G | GCCCTCCC others(22): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0002 | a0002c0001 | a0002c0001t0003 | a0002c0001t0003g0217 | 1 | 278 | 0.0036 | 29 | c.258 others(46): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
IQSEC3_chr12_61767_183455 | 163376 | C | CCACAGAA others(22): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0013 | a0013c0058 | a0013c0058t0025 | a0013c0058t0025g0272 | 1 | 119 | 0.0084 | 29 | c.258 others(46): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
IQSEC3_chr12_61767_183455 | 163376 | C | CCACAGAA others(22): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00597.hp2 others(75): Show |
a0001a0002a0003others(12): Show | a0001c0003a0001c0004a0001c0007others(24): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0012others(45): Show | a0001c0003t0001g0044 a0001c0003t0001g0088 a0001c0003t0001g0090 others(75): Show |
78 | 196 | 0.3980 | 29 | c.258 others(46): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
IRAG1_chr11_10568095_10698755 | 10680404 | G | GGAAGGAA others(22): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03139.hp2 HG03225.hp2 |
a0006a0009a0010 | a0006c0010a0009c0019a0010c0020 | a0006c0010t0007a0009c0019t0001a0010c0020t0012 | a0006c0010t0007g0087 a0009c0019t0001g0086 a0010c0020t0012g0088 |
3 | 23 | 0.1304 | 29 | c.67+ others(46): Show |
IRAG1 | ENSG00000072952.21 | transcript | ENST00000423302.7 | protein_coding | 1/20 | chr11 | TogoVar | |||||||
IRAG1_chr11_10568095_10698755 | 10680404 | G | GGAAGGAA others(22): Show |
intron_variant | MODIFIER | HG02004.hp1 NA19076.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0003 | a0001c0001t0001g0126 a0002c0003t0003g0031 |
2 | 22 | 0.0909 | 29 | c.67+ others(46): Show |
IRAG1 | ENSG00000072952.21 | transcript | ENST00000423302.7 | protein_coding | 1/20 | chr11 | TogoVar | |||||||
IRF3_chr19_49654572_49670857 | 49660028 | C | CACACACA others(22): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0020 | 1 | 263 | 0.0038 | 29 | c.109 others(46): Show |
IRF3 | ENSG00000126456.16 | transcript | ENST00000377139.8 | protein_coding | 7/7 | chr19 | TogoVar | |||||||
IRF6_chr1_209780617_209811142 | 209806757 | C | CTTTTTTT others(22): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 NA18970.hp2 NA19000.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0075 a0001c0001t0001g0087 |
3 | 76 | 0.0395 | 29 | c.-88 others(38): Show |
IRF6 | ENSG00000117595.13 | transcript | ENST00000367021.8 | protein_coding | 616 | chr1 | TogoVar | |||||||
IRS1_chr2_226726312_226804820 | 226766163 | A | ATATATAT others(22): Show |
intron_variant | MODIFIER | HG02897.hp1 HG03516.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0014a0001c0003t0027 | a0001c0001t0014g0079 a0001c0003t0027g0024 |
2 | 28 | 0.0714 | 29 | c.*21 others(48): Show |
IRS1 | ENSG00000169047.6 | transcript | ENST00000305123.6 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
ITFG1_chr16_47149391_47466063 | 47293181 | A | AATGATAT others(22): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01074.hp2 HG01109.hp2 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(27): Show |
30 | 107 | 0.2804 | 29 | c.107 others(50): Show |
ITFG1 | ENSG00000129636.13 | transcript | ENST00000320640.11 | protein_coding | 10/17 | chr16 | TogoVar | |||||||
ITGA10_chr1_145886208_145915050 | 145889715 | T | TATGTGTA others(22): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 HG02622.hp1 HG02818.hp1 others(2): Show |
a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0044 a0003c0005t0001g0095 a0003c0005t0001g0152 others(1): Show |
5 | 388 | 0.0129 | 29 | c.*30 others(40): Show |
ITGA10 | ENSG00000143127.13 | transcript | ENST00000369304.8 | protein_coding | 1492 | chr1 | TogoVar | |||||||
ITGA1_chr5_52782916_52964209 | 52911547 | C | CTATATAT others(22): Show |
intron_variant | MODIFIER | HG02738.hp2 NA18969.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0004t0005 | a0001c0001t0004g0128 a0001c0004t0005g0186 |
2 | 311 | 0.0064 | 29 | c.185 others(48): Show |
ITGA1 | ENSG00000213949.10 | transcript | ENST00000282588.7 | protein_coding | 14/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ITGA1_chr5_52782916_52964209 | 52911632 | C | CTACATAT others(22): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0002 | a0002c0013 | a0002c0013t0044 | a0002c0013t0044g0284 | 1 | 317 | 0.0032 | 29 | c.185 others(48): Show |
ITGA1 | ENSG00000213949.10 | transcript | ENST00000282588.7 | protein_coding | 14/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ITGA1_chr5_52782916_52964209 | 52911635 | T | TATATAGT others(22): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0201 | 1 | 123 | 0.0081 | 29 | c.185 others(48): Show |
ITGA1 | ENSG00000213949.10 | transcript | ENST00000282588.7 | protein_coding | 14/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ITGA1_chr5_52782916_52964209 | 52911635 | T | TATATAGT others(22): Show |
intron_variant | MODIFIER | HG02074.hp2 HG02630.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0056 | a0001c0001t0006g0027 a0001c0001t0056g0261 |
2 | 124 | 0.0161 | 29 | c.185 others(48): Show |
ITGA1 | ENSG00000213949.10 | transcript | ENST00000282588.7 | protein_coding | 14/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ITGA2B_chr17_44367181_44394649 | 44368146 | A | ATATATAT others(22): Show |
downstream_gene_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 268 | 0.0037 | 29 | c.*42 others(40): Show |
ITGA2B | ENSG00000005961.19 | transcript | ENST00000262407.6 | protein_coding | 4034 | chr17 | TogoVar | |||||||
ITGAE_chr17_3709628_3806188 | 3788694 | A | ATTAAAAA others(22): Show |
intron_variant | MODIFIER | HG01952.hp1 NA18939.hp2 |
a0002a0003 | a0002c0002a0003c0011 | a0002c0002t0001a0003c0011t0001 | a0002c0002t0001g0003 a0003c0011t0001g0190 |
2 | 139 | 0.0144 | 29 | c.35- others(46): Show |
ITGAE | ENSG00000083457.12 | transcript | ENST00000263087.9 | protein_coding | 1/30 | chr17 | TogoVar | |||||||
ITGAL_chr16_30467742_30528185 | 30485276 | G | GAGTGCAG others(22): Show |
intron_variant | MODIFIER | HG00408.hp1 NA18612.hp1 NA18980.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0068 a0001c0001t0001g0106 a0001c0001t0001g0107 others(3): Show |
6 | 133 | 0.0451 | 29 | c.100 others(48): Show |
ITGAL | ENSG00000005844.19 | transcript | ENST00000356798.11 | protein_coding | 9/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ITGAL_chr16_30467742_30528185 | 30485276 | G | GAGTGCAG others(22): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00423.hp1 others(180): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0004a0001c0005others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(176): Show |
183 | 310 | 0.5903 | 29 | c.100 others(48): Show |
ITGAL | ENSG00000005844.19 | transcript | ENST00000356798.11 | protein_coding | 9/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ITGAL_chr16_30467742_30528185 | 30499715 | A | ATATATAT others(22): Show |
intron_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 276 | 0.0036 | 29 | c.214 others(46): Show |
ITGAL | ENSG00000005844.19 | transcript | ENST00000356798.11 | protein_coding | 17/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ITGAL_chr16_30467742_30528185 | 30499733 | A | ATACGTAT others(22): Show |
intron_variant | MODIFIER | HG02280.hp1 NA19043.hp1 NA20129.hp2 |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0005 | a0002c0003t0001g0299 a0002c0003t0001g0300 a0002c0003t0005g0298 |
3 | 110 | 0.0273 | 29 | c.214 others(46): Show |
ITGAL | ENSG00000005844.19 | transcript | ENST00000356798.11 | protein_coding | 17/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ITGAL_chr16_30467742_30528185 | 30499733 | A | ATACGTAT others(22): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0284 | 1 | 108 | 0.0093 | 29 | c.214 others(46): Show |
ITGAL | ENSG00000005844.19 | transcript | ENST00000356798.11 | protein_coding | 17/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ITGAM_chr16_31254975_31337877 | 31258303 | A | ATATATAT others(22): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 HG02109.hp2 |
a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0150 a0001c0005t0004g0154 |
2 | 79 | 0.0253 | 29 | c.-17 others(40): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 1671 | chr16 | TogoVar | |||||||
ITGAM_chr16_31254975_31337877 | 31258303 | A | ATATATAT others(22): Show |
upstream_gene_variant | MODIFIER | HG03041.hp2 NA20300.hp1 |
a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0157 a0001c0005t0004g0161 |
2 | 79 | 0.0253 | 29 | c.-17 others(40): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 1671 | chr16 | TogoVar | |||||||
ITGAM_chr16_31254975_31337877 | 31270126 | C | CTCCTTTG others(22): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02896.hp1 HG03516.hp1 |
a0001a0004a0008 | a0001c0007a0004c0006a0008c0010 | a0001c0007t0004a0004c0006t0003a0008c0010t0004 | a0001c0007t0004g0025 a0004c0006t0003g0012 a0008c0010t0004g0019 |
3 | 209 | 0.0144 | 29 | c.428 others(44): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ITGAM_chr16_31254975_31337877 | 31270130 | C | CTTCCTCC others(22): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02647.hp2 HG03041.hp2 |
a0001a0007 | a0001c0005a0007c0012 | a0001c0005t0004a0007c0012t0004 | a0001c0005t0004g0154 a0001c0005t0004g0157 a0007c0012t0004g0156 |
3 | 184 | 0.0163 | 29 | c.428 others(44): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ITGB2_chr21_44880953_44925899 | 44918931 | G | GGCTGAGC others(22): Show |
intron_variant | MODIFIER | NA18612.hp2 NA18943.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0399 a0001c0001t0001g0400 |
2 | 439 | 0.0046 | 29 | c.-4+ others(44): Show |
ITGB2 | ENSG00000160255.19 | transcript | ENST00000652462.1 | protein_coding | 1/15 | chr21 | TogoVar | |||||||
ITGB2_chr21_44880953_44925899 | 44918935 | A | AAGCGTCC others(22): Show |
intron_variant | MODIFIER | NA18747.hp2 NA18962.hp2 NA18963.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0002others(1): Show | a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 others(6): Show |
9 | 188 | 0.0479 | 29 | c.-4+ others(44): Show |
ITGB2 | ENSG00000160255.19 | transcript | ENST00000652462.1 | protein_coding | 1/15 | chr21 | TogoVar |