| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DHRSX_chrX_2214506_2505976 | 2266143 | A | ACCCAGAG others(233): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02717.hp1 |
a0004a0007 | a0004c0004a0007c0009 | a0004c0004t0005a0007c0009t0013 | a0004c0004t0005g0009a0007c0009t0013g0005 | 2 | 50 | 0.0400 | 240 | c.596 others(255): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 5/6 | chrX | TogoVar | ||||||
| DIDO1_chr20_62872743_62931505 | 62875284 | C | CCACCCCC others(233): Show |
downstream_gene_variant | MODIFIER | HG02135.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0231 | 1 | 320 | 0.0031 | 240 | c.*39 others(251): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 2458 | chr20 | TogoVar | ||||||
| DIP2B_chr12_50499985_50753657 | 50593816 | T | TCTCCCCT others(233): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 284 | 0.0035 | 240 | c.101 others(259): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| DIP2C_chr10_269201_694668 | 608556 | C | CCCACACA others(233): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0076 | 1 | 88 | 0.0114 | 240 | c.85+ others(257): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 1014076 | C | CGCCTCCA others(233): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0003 | a0001c0003t0017 | a0001c0003t0017g0004 | 1 | 40 | 0.0250 | 240 | c.73+ others(259): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1248428 | C | CAAGACCT others(233): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0032 | 1 | 40 | 0.0250 | 240 | c.74- others(257): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1248428 | C | CAAGACCT others(233): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0002 | a0002c0001 | a0002c0001t0005 | a0002c0001t0005g0035 | 1 | 40 | 0.0250 | 240 | c.74- others(257): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1351068 | G | GTGTGCGT others(233): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01361.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0023 | a0001c0002t0001g0019a0001c0002t0023g0005 | 2 | 40 | 0.0500 | 240 | c.106 others(259): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1351608 | G | GTGTGGAT others(233): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01361.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0023 | a0001c0002t0001g0019a0001c0002t0023g0005 | 2 | 40 | 0.0500 | 240 | c.106 others(259): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | chr8 | TogoVar | ||||||
| DNAH17_chr17_78418697_78582396 | 78478100 | T | TCATCATC others(233): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00639.hp2 HG02055.hp2 others(3): Show |
a0001a0022a0069others(3): Show | a0001c0040a0022c0023a0069c0057others(3): Show | a0001c0040t0001a0022c0023t0001a0069c0057t0001others(3): Show | a0001c0040t0001g0054a0022c0023t0001g0023a0069c0057t0001g0164others(3): Show | 6 | 252 | 0.0238 | 240 | c.799 others(257): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 51/80 | chr17 | TogoVar | ||||||
| DNAH17_chr17_78418697_78582396 | 78478107 | C | CATCTCCA others(233): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02886.hp1 HG02976.hp2 others(4): Show |
a0010a0025a0026others(4): Show | a0010c0213a0025c0017a0026c0019others(4): Show | a0010c0213t0001a0025c0017t0001a0026c0019t0001others(4): Show | a0010c0213t0001g0138a0025c0017t0001g0078a0026c0019t0001g0127others(4): Show | 7 | 252 | 0.0278 | 240 | c.799 others(257): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 51/80 | chr17 | TogoVar | ||||||
| DNAH17_chr17_78418697_78582396 | 78541095 | T | TGGGTGAG others(233): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0004 | a0004c0011 | a0004c0011t0001 | a0004c0011t0001g0028 | 1 | 252 | 0.0040 | 240 | c.253 others(259): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 17/80 | chr17 | TogoVar | ||||||
| DNAI7_chr12_25103289_25200160 | 25106528 | T | TCAGACTC others(233): Show |
downstream_gene_variant | MODIFIER | HG02615.hp1 HG02647.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029a0001c0001t0001g0030 | 2 | 336 | 0.0060 | 240 | c.*20 others(251): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 1760 | chr12 | TogoVar | ||||||
| DNAI7_chr12_25103289_25200160 | 25106550 | G | GTACAGTA others(233): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00639.hp1 others(19): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0030a0001c0001t0001g0055a0001c0001t0001g0081others(19): Show | 22 | 336 | 0.0655 | 240 | c.*19 others(251): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 1738 | chr12 | TogoVar | ||||||
| DNAI7_chr12_25103289_25200160 | 25174371 | G | GATATATA others(233): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00639.hp2 HG01943.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043a0001c0001t0001g0111a0001c0001t0001g0116others(14): Show | 17 | 336 | 0.0506 | 240 | c.22- others(257): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
| DOCK8_chr9_209865_470255 | 400034 | C | CCACCACC others(233): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0010 | a0010c0103 | a0010c0103t0003 | a0010c0103t0003g0230 | 1 | 256 | 0.0039 | 240 | c.323 others(257): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| DOCK8_chr9_209865_470255 | 400619 | A | ACCACCAC others(233): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02486.hp2 HG02717.hp1 others(3): Show |
a0002a0013a0019others(2): Show | a0002c0096a0013c0080a0013c0093others(3): Show | a0002c0096t0001a0013c0080t0001a0013c0093t0001others(3): Show | a0002c0096t0001g0010a0013c0080t0001g0061a0013c0093t0001g0009others(3): Show | 6 | 256 | 0.0234 | 240 | c.323 others(259): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| DPEP1_chr16_89608642_89643433 | 89618935 | T | TCCCTGCC others(233): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 250 | 0.0040 | 240 | c.-10 others(259): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| DPEP1_chr16_89608642_89643433 | 89619070 | T | TGCTCCCC others(233): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 250 | 0.0040 | 240 | c.-10 others(259): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| DPEP1_chr16_89608642_89643433 | 89619306 | C | CCCCCCCG others(233): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0186 | 1 | 250 | 0.0040 | 240 | c.-10 others(259): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| DPEP1_chr16_89608642_89643433 | 89619444 | C | CCTGCAGC others(233): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 250 | 0.0040 | 240 | c.-10 others(259): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| DRD4_chr11_632269_645706 | 635825 | A | AGTCTCTC others(233): Show |
upstream_gene_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 421 | 0.0024 | 240 | c.-14 others(251): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 1443 | chr11 | TogoVar | ||||||
| DYSF_chr2_71448561_71691763 | 71618151 | G | GGTGTGTG others(233): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00544.hp2 others(30): Show |
a0001a0002a0011others(2): Show | a0001c0002a0001c0005a0001c0012others(9): Show | a0001c0002t0001a0001c0002t0002a0001c0005t0001others(11): Show | a0001c0002t0001g0041a0001c0002t0001g0058a0001c0002t0001g0059others(30): Show | 33 | 192 | 0.1719 | 240 | c.441 others(259): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 40/54 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| DYSF_chr2_71461699_71691763 | 71618151 | G | GGTGTGTG others(233): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00544.hp2 others(30): Show |
a0001a0002a0005others(3): Show | a0001c0002a0001c0005a0001c0013others(10): Show | a0001c0002t0001a0001c0002t0002a0001c0005t0001others(13): Show | a0001c0002t0001g0046a0001c0002t0001g0067a0001c0002t0001g0073others(30): Show | 33 | 208 | 0.1587 | 240 | c.446 others(259): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| EIF4G3_chr1_20801479_21181897 | 21180050 | A | ATATTACA others(233): Show |
upstream_gene_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0298 | 1 | 312 | 0.0032 | 240 | c.-37 others(251): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 3154 | chr1 | TogoVar | ||||||
| ELOVL6_chr4_110040846_110203615 | 110083966 | T | TAACATAT others(233): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0221 | 1 | 338 | 0.0030 | 240 | c.221 others(259): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | ||||||
| EXD3_chr9_137301896_137428162 | 137329179 | T | TACACGGG others(233): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0068 | 1 | 82 | 0.0122 | 240 | c.199 others(259): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | ||||||
| EXD3_chr9_137301896_137428162 | 137329763 | G | GGGACTAC others(233): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 82 | 0.0122 | 240 | c.199 others(259): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | ||||||
| EXD3_chr9_137301896_137428162 | 137355464 | A | AGGAGGAC others(233): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0066 | 1 | 82 | 0.0122 | 240 | c.758 others(255): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | ||||||
| FBXL13_chr7_102806189_103079796 | 102855769 | A | ATCGATCT others(233): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0225 | 1 | 328 | 0.0031 | 240 | c.190 others(257): Show |
FBXL13 | ENSG00000161040.19 | transcript | ENST00000440067.4 | protein_coding | 17/20 | chr7 | TogoVar | ||||||
| FGL1_chr8_17859389_17900524 | 17883105 | A | AATATAGA others(233): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0284 | 1 | 366 | 0.0027 | 240 | c.64- others(253): Show |
FGL1 | ENSG00000104760.17 | transcript | ENST00000427924.5 | protein_coding | 2/7 | chr8 | TogoVar | ||||||
| FLT4_chr5_180596506_180654600 | 180635050 | G | GTGGGTGG others(233): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0005 | a0005c0018 | a0005c0018t0013 | a0005c0018t0013g0167 | 1 | 388 | 0.0026 | 240 | c.59- others(255): Show |
FLT4 | ENSG00000037280.16 | transcript | ENST00000261937.11 | protein_coding | 1/29 | chr5 | TogoVar | ||||||
| FOXK2_chr17_82514732_82609602 | 82586449 | C | CAGTGGGG others(233): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0022 | a0022c0029 | a0022c0029t0002 | a0022c0029t0002g0100 | 1 | 308 | 0.0033 | 240 | c.157 others(257): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | chr17 | TogoVar | ||||||
| FOXN3_chr14_89151177_89422233 | 89360992 | C | CACCACCA others(233): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0116 | 1 | 230 | 0.0044 | 240 | c.544 others(259): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | ||||||
| FOXP1_chr3_70949708_71588728 | 71396951 | T | TGTATATA others(233): Show |
intron_variant | MODIFIER | HG02109.hp2 HG03130.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0022a0001c0001t0023 | a0001c0001t0002g0051a0001c0001t0022g0047a0001c0001t0023g0045 | 3 | 96 | 0.0313 | 240 | c.-16 others(261): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | ||||||
| FOXP1_chr3_70949708_71588728 | 71397069 | T | TATATATA others(233): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0060a0001c0001t0065 | a0001c0001t0060g0037a0001c0001t0065g0035 | 2 | 96 | 0.0208 | 240 | c.-16 others(261): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | ||||||
| FOXP1_chr3_70949708_71588728 | 71435721 | A | AAGGGACG others(233): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0060 | a0001c0001t0060g0037 | 1 | 96 | 0.0104 | 240 | c.-16 others(261): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | ||||||
| GAL3ST2_chr2_241771822_241809287 | 241807023 | A | ACCTTCCC others(233): Show |
downstream_gene_variant | MODIFIER | NA20805.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0040 | 1 | 314 | 0.0032 | 240 | c.*28 others(251): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 2737 | chr2 | TogoVar | ||||||
| GAL3ST2_chr2_241771822_241809287 | 241807154 | G | GCCCAGGG others(233): Show |
downstream_gene_variant | MODIFIER | HG02622.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0022 | 1 | 314 | 0.0032 | 240 | c.*29 others(251): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 2868 | chr2 | TogoVar | ||||||
| GALNT13_chr2_153866922_154458979 | 154298587 | T | TTCATATA others(233): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0075 | a0001c0001t0075g0085 | 1 | 214 | 0.0047 | 240 | c.976 others(257): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| GALNT17_chr7_71127144_71718599 | 71680263 | C | CCTCTCTC others(233): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0054 | 1 | 76 | 0.0132 | 240 | c.150 others(259): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| GET4_chr7_871554_901436 | 889794 | A | AGGGAGCG others(233): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0170 | 1 | 384 | 0.0026 | 240 | c.467 others(257): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| GLB1L2_chr11_134326988_134381324 | 134369429 | G | GAGCGATC others(233): Show |
intron_variant | MODIFIER | HG02056.hp1 HG02080.hp2 HG02165.hp1 others(4): Show |
a0001a0015 | a0001c0001a0015c0031 | a0001c0001t0003a0001c0001t0005a0001c0001t0013others(1): Show | a0001c0001t0003g0008a0001c0001t0003g0292a0001c0001t0003g0307others(3): Show | 7 | 414 | 0.0169 | 240 | c.102 others(257): Show |
GLB1L2 | ENSG00000149328.16 | transcript | ENST00000535456.7 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| GLB1L2_chr11_134326988_134381324 | 134369530 | C | CAGGTGTG others(233): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0312 | 1 | 414 | 0.0024 | 240 | c.102 others(257): Show |
GLB1L2 | ENSG00000149328.16 | transcript | ENST00000535456.7 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| GLB1L2_chr11_134326988_134381324 | 134369530 | C | CAGGTGTG others(233): Show |
intron_variant | MODIFIER | HG01069.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155a0001c0001t0001g0260 | 2 | 414 | 0.0048 | 240 | c.102 others(257): Show |
GLB1L2 | ENSG00000149328.16 | transcript | ENST00000535456.7 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| GLB1L2_chr11_134326988_134381324 | 134369530 | C | CAGGTGTG others(233): Show |
intron_variant | MODIFIER | HG02080.hp1 NA18983.hp1 |
a0005 | a0005c0016 | a0005c0016t0001 | a0005c0016t0001g0150a0005c0016t0001g0154 | 2 | 414 | 0.0048 | 240 | c.102 others(257): Show |
GLB1L2 | ENSG00000149328.16 | transcript | ENST00000535456.7 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| GLB1L2_chr11_134326988_134381324 | 134369578 | G | GTGCTGGG others(233): Show |
intron_variant | MODIFIER | HG01071.hp1 HG03239.hp2 HG03669.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0007 | a0001c0001t0001a0001c0003t0001a0001c0007t0002 | a0001c0001t0001g0261a0001c0001t0001g0299a0001c0001t0001g0315others(2): Show | 5 | 414 | 0.0121 | 240 | c.102 others(257): Show |
GLB1L2 | ENSG00000149328.16 | transcript | ENST00000535456.7 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| GLB1L3_chr11_134271379_134324564 | 134308338 | C | CCACCACC others(233): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0152 | 1 | 422 | 0.0024 | 240 | c.961 others(257): Show |
GLB1L3 | ENSG00000166105.16 | transcript | ENST00000431683.7 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| GLIS3_chr9_3819127_4305068 | 3876692 | A | ACGGAGGG others(233): Show |
intron_variant | MODIFIER | HG03669.hp1 HG03669.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0082 | a0001c0001t0005g0170a0002c0002t0082g0118 | 2 | 188 | 0.0106 | 240 | c.229 others(259): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 8/10 | chr9 | TogoVar | ||||||
| GLRA2_chrX_14524536_14736812 | 14631915 | C | CATATGTA others(233): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0007 | 1 | 232 | 0.0043 | 240 | c.930 others(259): Show |
GLRA2 | ENSG00000101958.14 | transcript | ENST00000218075.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar |