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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DGKB_chr7_14140049_14907751 | 14471376 | T | TATATATG others(1740): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0016 | a0001c0016t0001 | a0001c0016t0001g0038 | 1 | 117 | 0.0085 | 1747 | c.183 others(1766): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | |||||||
FBXL14_chr12_1560993_1599581 | 1574458 | C | CGTGTGGG others(1740): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0107 | 1 | 169 | 0.0059 | 1747 | c.119 others(1766): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | |||||||
OSBPL5_chr11_3082107_3170310 | 3097061 | A | AAGGGGGA others(1740): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0300 | 1 | 2 | 0.5000 | 1747 | c.162 others(1766): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 14/21 | chr11 | TogoVar | |||||||
PDGFA_chr7_492258_524846 | 494651 | T | TGGGGGAT others(1740): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 HG02717.hp1 |
a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0275 a0001c0001t0041g0276 |
2 | 10 | 0.2000 | 1747 | c.*39 others(1758): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2606 | chr7 | TogoVar | |||||||
RUSC2_chr9_35485111_35566895 | 35495153 | T | TATAGTAT others(1740): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 217 | 0.0046 | 1747 | c.-93 others(1764): Show |
RUSC2 | ENSG00000198853.12 | transcript | ENST00000361226.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SLC44A5_chr1_75197129_75616114 | 75280137 | T | TATATATA others(1740): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0060 | 1 | 46 | 0.0217 | 1747 | c.176 others(1764): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 5/23 | chr1 | TogoVar | |||||||
SLC6A3_chr5_1387794_1450440 | 1414399 | G | GGGGGGCC others(1740): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0344 | 1 | 312 | 0.0032 | 1747 | c.115 others(1764): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
SLC6A3_chr5_1387794_1450440 | 1414399 | G | GGGGGGCC others(1740): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 312 | 0.0032 | 1747 | c.115 others(1764): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
TRPM3_chr9_70524060_71126621 | 70969529 | T | TAATAAAC others(1740): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02723.hp1 HG03195.hp2 others(1): Show |
a0001a0005 | a0001c0001a0005c0014a0005c0019 | a0001c0001t0032a0005c0014t0013a0005c0019t0013 | a0001c0001t0032g0003 a0005c0014t0013g0004 a0005c0014t0013g0005 others(1): Show |
4 | 212 | 0.0189 | 1747 | c.178 others(1768): Show |
TRPM3 | ENSG00000083067.26 | transcript | ENST00000677713.2 | protein_coding | 1/25 | chr9 | TogoVar | |||||||
UCKL1_chr20_63934829_63961416 | 63948630 | G | GAGGGGCG others(1740): Show |
intron_variant | MODIFIER | HG02630.hp1 HG06807.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0074 a0001c0002t0001g0206 |
2 | 147 | 0.0136 | 1747 | c.114 others(1764): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
WDR25_chr14_100371485_100535303 | 100526932 | A | ATCACCAC others(1740): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0168 | 1 | 21 | 0.0476 | 1747 | c.127 others(1764): Show |
WDR25 | ENSG00000176473.14 | transcript | ENST00000402312.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(1741): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 76 | 0.0132 | 1748 | c.955 others(1765): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CASK_chrX_41509934_41928554 | 41775806 | G | GTTCTCAC others(1741): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0004 a0001c0001t0007g0005 |
2 | 135 | 0.0148 | 1748 | c.278 others(1767): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 3/26 | chrX | TogoVar | |||||||
CASK_chrX_41509934_41928554 | 41775806 | G | GTTCTCAC others(1741): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0006 | a0001c0006t0018 | a0001c0006t0018g0160 | 1 | 134 | 0.0075 | 1748 | c.278 others(1767): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 3/26 | chrX | TogoVar | |||||||
CASK_chrX_41509934_41928554 | 41775806 | G | GTTCTCAC others(1741): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0034 a0001c0001t0006g0035 a0001c0001t0006g0036 |
3 | 136 | 0.0221 | 1748 | c.278 others(1767): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 3/26 | chrX | TogoVar | |||||||
CASK_chrX_41509934_41928554 | 41775806 | G | GTTCTCAC others(1741): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0018 a0001c0001t0001g0029 a0001c0001t0002g0009 others(16): Show |
19 | 152 | 0.1250 | 1748 | c.278 others(1767): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 3/26 | chrX | TogoVar | |||||||
CASK_chrX_41509934_41928554 | 41775806 | G | GTTCTCAC others(1741): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0007 | 1 | 134 | 0.0075 | 1748 | c.278 others(1767): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 3/26 | chrX | TogoVar | |||||||
CASK_chrX_41509934_41928554 | 41775806 | G | GTTCTCAC others(1741): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0003 | 1 | 134 | 0.0075 | 1748 | c.278 others(1767): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 3/26 | chrX | TogoVar | |||||||
CYSLTR1_chrX_78266468_78332611 | 78269606 | A | AATACAGA others(1741): Show |
downstream_gene_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 57 | 0.0175 | 1748 | c.*31 others(1759): Show |
CYSLTR1 | ENSG00000173198.6 | transcript | ENST00000373304.4 | protein_coding | 1861 | chrX | TogoVar | |||||||
DPEP1_chr16_89608642_89643433 | 89618964 | C | CTCCCTGC others(1741): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 161 | 0.0062 | 1748 | c.-10 others(1767): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642859 | C | CGGGGTGA others(1741): Show |
downstream_gene_variant | MODIFIER | NA19063.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0066 | 1 | 410 | 0.0024 | 1748 | c.*22 others(1759): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2154 | chr11 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 659731 | T | TGTGCACT others(1741): Show |
downstream_gene_variant | MODIFIER | NA20752.hp1 | a0012 | a0012c0011 | a0012c0011t0002 | a0012c0011t0002g0244 | 1 | 373 | 0.0027 | 1748 | c.*48 others(1759): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 4468 | chr8 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137355457 | A | AGGAGGAA others(1741): Show |
intron_variant | MODIFIER | HG01993.hp1 HG01993.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0045 a0002c0002t0001g0056 |
2 | 74 | 0.0270 | 1748 | c.758 others(1763): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | |||||||
FAT3_chr11_92219818_92901473 | 92705644 | T | TAGTGATG others(1741): Show |
intron_variant | MODIFIER | HG01243.hp2 HG03098.hp1 |
a0005a0035 | a0005c0038a0035c0040 | a0005c0038t0056a0035c0040t0002 | a0005c0038t0056g0112 a0035c0040t0002g0115 |
2 | 25 | 0.0800 | 1748 | c.366 others(1767): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 4/27 | chr11 | TogoVar | |||||||
FHOD3_chr18_36292713_36785220 | 36463416 | T | TAATATAT others(1741): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0018 | a0018c0028 | a0018c0028t0001 | a0018c0028t0001g0159 | 1 | 47 | 0.0213 | 1748 | c.338 others(1767): Show |
FHOD3 | ENSG00000134775.16 | transcript | ENST00000590592.6 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33323118 | T | TGGAATAT others(1741): Show |
upstream_gene_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 319 | 0.0031 | 1748 | c.-19 others(1759): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1851 | chr21 | TogoVar | |||||||
LGR6_chr1_202188799_202324761 | 202205211 | C | CACACACA others(1741): Show |
intron_variant | MODIFIER | NA18612.hp1 NA18984.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0130 a0002c0002t0002g0129 |
2 | 203 | 0.0099 | 1748 | c.212 others(1767): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364477 | C | CCACCCTT others(1741): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0191 | 1 | 215 | 0.0047 | 1748 | c.129 others(1765): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
OSBPL5_chr11_3082107_3170310 | 3097061 | A | AAGGGGGA others(1741): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0200 | 1 | 2 | 0.5000 | 1748 | c.162 others(1767): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 14/21 | chr11 | TogoVar | |||||||
PHRF1_chr11_571470_617222 | 585234 | C | CCTTTCCA others(1741): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0024 | 1 | 241 | 0.0041 | 1748 | c.215 others(1765): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PHRF1_chr11_571470_617222 | 585234 | C | CCTTTCCA others(1741): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0018 | 1 | 241 | 0.0041 | 1748 | c.215 others(1765): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PHRF1_chr11_571470_617222 | 585234 | C | CCTTTCCA others(1741): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0006 | a0006c0010 | a0006c0010t0002 | a0006c0010t0002g0271 | 1 | 241 | 0.0041 | 1748 | c.215 others(1765): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PHRF1_chr11_571470_617222 | 585234 | C | CCTTTCCA others(1741): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0006 | a0006c0010 | a0006c0010t0002 | a0006c0010t0002g0011 | 1 | 241 | 0.0041 | 1748 | c.215 others(1765): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PHRF1_chr11_571470_617222 | 585234 | C | CCTTTCCA others(1741): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0017 | 1 | 241 | 0.0041 | 1748 | c.215 others(1765): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SCUBE1_chr22_43192280_43348372 | 43339755 | C | CCCCCACT others(1741): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0010 | a0001c0010t0070 | a0001c0010t0070g0037 | 1 | 192 | 0.0052 | 1748 | c.89- others(1761): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | |||||||
ZBTB42_chr14_104796101_104809712 | 104808110 | G | GAGCACCC others(1741): Show |
downstream_gene_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 71 | 0.0141 | 1748 | c.*56 others(1759): Show |
ZBTB42 | ENSG00000179627.10 | transcript | ENST00000342537.8 | protein_coding | 3399 | chr14 | TogoVar | |||||||
CDHR2_chr5_176544342_176600824 | 176591689 | A | ATGATGAT others(1742): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0004 | a0004c0039 | a0004c0039t0001 | a0004c0039t0001g0029 | 1 | 225 | 0.0044 | 1749 | c.373 others(1766): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132914028 | C | CCCCGAGG others(1742): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0033 | a0033c0074 | a0033c0074t0002 | a0033c0074t0002g0006 | 1 | 171 | 0.0058 | 1749 | c.212 others(1766): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 17/57 | chr10 | TogoVar | |||||||
DCLK2_chr4_150073445_150262438 | 150251241 | A | ACATCCCC others(1742): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0056 | 1 | 70 | 0.0143 | 1749 | c.207 others(1768): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
DGKB_chr7_14140049_14907751 | 14471376 | T | TATATATG others(1742): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0002 | a0001c0002t0029 | a0001c0002t0029g0002 | 1 | 117 | 0.0085 | 1749 | c.183 others(1768): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | |||||||
ENTREP2_chr15_29115252_29575979 | 29558678 | C | CCTCCCAC others(1742): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0010 | a0001c0010t0025 | a0001c0010t0025g0001 | 1 | 3 | 0.3333 | 1749 | c.219 others(1768): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
GPRIN1_chr5_176590802_176615156 | 176591689 | A | ATGATGAT others(1742): Show |
downstream_gene_variant | MODIFIER | HG02723.hp1 | a0007 | a0007c0017 | a0007c0017t0019 | a0007c0017t0019g0116 | 1 | 253 | 0.0040 | 1749 | c.*51 others(1760): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 4112 | chr5 | TogoVar | |||||||
HPCAL1_chr2_10297904_10432604 | 10399439 | C | CCGCCACC others(1742): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0076 | 1 | 297 | 0.0034 | 1749 | c.-25 others(1766): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PCCA_chr13_100084093_100535435 | 100451904 | C | CCTCTCTC others(1742): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 5 | 0.2000 | 1749 | c.189 others(1768): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PCCA_chr13_100084093_100535435 | 100451904 | C | CCTCTCTC others(1742): Show |
intron_variant | MODIFIER | HG04204.hp1 NA19091.hp1 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 a0001c0001t0001g0126 a0001c0001t0001g0142 |
3 | 7 | 0.4286 | 1749 | c.189 others(1768): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 101143 | A | ATAGGGGA others(1742): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 |
a0008 | a0008c0024 | a0008c0024t0022 | a0008c0024t0022g0174 a0008c0024t0022g0175 |
2 | 153 | 0.0131 | 1749 | c.45+ others(1764): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RTL4_chrX_112078016_112462514 | 112310514 | A | AATATATG others(1742): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0044 | 1 | 18 | 0.0556 | 1749 | c.-28 others(1768): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SLC6A3_chr5_1387794_1450440 | 1414431 | A | ACTGGGTG others(1742): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0184 | 1 | 315 | 0.0032 | 1749 | c.115 others(1766): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
SMOC2_chr6_168436184_168672992 | 168594213 | C | CGAGCATC others(1742): Show |
intron_variant | MODIFIER | HG01256.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 a0001c0001t0001g0083 |
2 | 176 | 0.0114 | 1749 | c.638 others(1766): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157311512 | C | CCCATTGT others(1742): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 a0001c0001t0001g0047 |
2 | 268 | 0.0075 | 1749 | c.327 others(1766): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar |