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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MCC_chr5_113017106_113493453 | 113146295 | G | GAACAAGA others(2126): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0009 | a0001c0009t0011 | a0001c0009t0011g0070 | 1 | 5 | 0.2000 | 2133 | c.742 others(2150): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 4/18 | chr5 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17876937 | G | TGGAGGTT others(2126): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0047 | 1 | 210 | 0.0048 | 2133 | c.224 others(2152): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
PDGFA_chr7_492258_524846 | 494645 | G | GGGGGACG others(2126): Show |
downstream_gene_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0211 | 1 | 224 | 0.0045 | 2133 | c.*39 others(2144): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2612 | chr7 | TogoVar | |||||||
PDGFA_chr7_492258_524846 | 494651 | T | TGGGGGAT others(2126): Show |
downstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0098 | a0001c0001t0098g0208 | 1 | 9 | 0.1111 | 2133 | c.*39 others(2144): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2606 | chr7 | TogoVar | |||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2126): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0341 | 1 | 8 | 0.1250 | 2133 | c.-56 others(2152): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
RPEL1_chr10_103240887_103253016 | 103251100 | A | ACCACCAT others(2126): Show |
downstream_gene_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 1 | 218 | 0.0046 | 2133 | c.*44 others(2144): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3085 | chr10 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251122 | C | CCACCACC others(2126): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 1 | 322 | 0.0031 | 2133 | c.*44 others(2144): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3107 | chr10 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2126): Show |
downstream_gene_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0000 | 1 | 221 | 0.0045 | 2133 | c.*44 others(2144): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31432156 | C | CAGGGTGG others(2126): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0266 | 1 | 160 | 0.0063 | 2133 | c.101 others(2150): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432174 | T | TAGGGTGG others(2126): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0317 | 1 | 228 | 0.0044 | 2133 | c.101 others(2150): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATC1L_chr21_46156160_46189459 | 46184617 | C | CCAACCCA others(2126): Show |
upstream_gene_variant | MODIFIER | HG01069.hp2 HG01106.hp1 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0030 | a0001c0001t0011g0066 a0001c0001t0011g0067 a0001c0001t0030g0065 |
3 | 240 | 0.0125 | 2133 | c.-12 others(2144): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 159 | chr21 | TogoVar | |||||||
UCK2_chr1_165822614_165916618 | 165892146 | T | TCTGAAAC others(2126): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 201 | 0.0050 | 2133 | c.356 others(2148): Show |
UCK2 | ENSG00000143179.16 | transcript | ENST00000367879.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123911549 | G | GGGGGTCT others(2127): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0066 | a0066c0043 | a0066c0043t0002 | a0066c0043t0002g0090 | 1 | 97 | 0.0103 | 2134 | c.101 others(2153): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123911549 | G | GGGGGTCT others(2127): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0062 | a0001c0062t0002 | a0001c0062t0002g0112 | 1 | 97 | 0.0103 | 2134 | c.101 others(2153): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
KREMEN1_chr22_29068035_29151820 | 29120443 | T | TGGAAATG others(2127): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0299 | 1 | 230 | 0.0043 | 2134 | c.353 others(2149): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62349741 | T | TGGTGGGG others(2127): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0012 | a0012c0014 | a0012c0014t0001 | a0012c0014t0001g0005 | 1 | 31 | 0.0323 | 2134 | c.956 others(2151): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | |||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2127): Show |
intron_variant | MODIFIER | NA20129.hp1 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0032 | a0001c0001t0019g0285 a0001c0001t0032g0290 |
2 | 9 | 0.2222 | 2134 | c.-56 others(2153): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
TPO_chr2_1408463_1548673 | 1525660 | C | CCCCCCCA others(2127): Show |
intron_variant | MODIFIER | NA19010.hp2 NA19058.hp2 |
a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0034 a0003c0003t0004g0050 |
2 | 5 | 0.4000 | 2134 | c.261 others(2153): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ZNF605_chr12_132913306_132961306 | 132954439 | T | TGGGGGGG others(2127): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0122 | 1 | 117 | 0.0085 | 2134 | c.-28 others(2153): Show |
ZNF605 | ENSG00000196458.11 | transcript | ENST00000360187.9 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
ZNF605_chr12_132913306_132961306 | 132954462 | G | GGAGGGGA others(2127): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0061 | 1 | 90 | 0.0111 | 2134 | c.-28 others(2153): Show |
ZNF605 | ENSG00000196458.11 | transcript | ENST00000360187.9 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
DNAH10_chr12_123757301_123940714 | 123911549 | G | GGGGGTCT others(2128): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0075 | 1 | 97 | 0.0103 | 2135 | c.101 others(2154): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
FAM120B_chr6_170301758_170412067 | 170377914 | C | CGCCCGGG others(2128): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0058 | 1 | 152 | 0.0066 | 2135 | c.228 others(2156): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FAM120B_chr6_170301758_170412067 | 170399047 | G | GAGTGAGT others(2128): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0200 | 1 | 286 | 0.0035 | 2135 | c.269 others(2154): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FZD3_chr8_28489212_28579258 | 28542375 | A | ACTCCTTT others(2128): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 | 1 | 326 | 0.0031 | 2135 | c.140 others(2154): Show |
FZD3 | ENSG00000104290.11 | transcript | ENST00000240093.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92547347 | C | CTTTATTT others(2128): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0006 | a0006c0005 | a0006c0005t0001 | a0006c0005t0001g0296 | 1 | 126 | 0.0079 | 2135 | c.45- others(2150): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SCUBE2_chr11_9014476_9096599 | 9082987 | T | TAAAAAGT others(2128): Show |
intron_variant | MODIFIER | NA18971.hp1 NA19088.hp1 |
a0002 | a0002c0001 | a0002c0001t0003 | a0002c0001t0003g0225 a0002c0001t0003g0226 |
2 | 265 | 0.0075 | 2135 | c.257 others(2152): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 2/22 | chr11 | TogoVar | |||||||
VNN1_chr6_132675849_132719055 | 132706868 | C | CAAAAGAA others(2128): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0005 | a0005c0008 | a0005c0008t0010 | a0005c0008t0010g0207 | 1 | 356 | 0.0028 | 2135 | c.341 others(2152): Show |
VNN1 | ENSG00000112299.8 | transcript | ENST00000367928.5 | protein_coding | 2/6 | chr6 | TogoVar | |||||||
VNN1_chr6_132675849_132719055 | 132706873 | G | GAAGTTAT others(2128): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0005 | a0005c0008 | a0005c0008t0021 | a0005c0008t0021g0202 | 1 | 411 | 0.0024 | 2135 | c.341 others(2152): Show |
VNN1 | ENSG00000112299.8 | transcript | ENST00000367928.5 | protein_coding | 2/6 | chr6 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113418971 | C | CTCTTTTC others(2129): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0002 | a0002c0011 | a0002c0011t0003 | a0002c0011t0003g0145 | 1 | 204 | 0.0049 | 2136 | c.106 others(2155): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113418971 | C | CTCTTTTC others(2129): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0002 | a0002c0014 | a0002c0014t0016 | a0002c0014t0016g0147 | 1 | 204 | 0.0049 | 2136 | c.106 others(2155): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2129): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0033 | a0001c0033t0001 | a0001c0033t0001g0058 | 1 | 13 | 0.0769 | 2136 | c.354 others(2155): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586503 | G | GGGGGAAA others(2129): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0271 | 1 | 234 | 0.0043 | 2136 | c.157 others(2153): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399426 | A | ACCACCAC others(2129): Show |
intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 285 | 0.0035 | 2136 | c.-25 others(2153): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 356432 | C | CCACACAT others(2129): Show |
upstream_gene_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0058 | 1 | 113 | 0.0088 | 2136 | c.-39 others(2147): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 3626 | chr17 | TogoVar | |||||||
VNN1_chr6_132675849_132719055 | 132706868 | C | CAAAAGAA others(2129): Show |
intron_variant | MODIFIER | HG02818.hp2 HG03098.hp1 HG03195.hp2 others(1): Show |
a0005 | a0005c0005 | a0005c0005t0010a0005c0005t0014a0005c0005t0020 | a0005c0005t0010g0039 a0005c0005t0014g0121 a0005c0005t0020g0122 |
4 | 359 | 0.0111 | 2136 | c.341 others(2153): Show |
VNN1 | ENSG00000112299.8 | transcript | ENST00000367928.5 | protein_coding | 2/6 | chr6 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79200733 | C | CAGGGTCA others(2130): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0258 | 1 | 278 | 0.0036 | 2137 | c.955 others(2154): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | chr18 | TogoVar | |||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2130): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0293 | 1 | 8 | 0.1250 | 2137 | c.-56 others(2156): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATTTA others(2130): Show |
upstream_gene_variant | MODIFIER | HG02004.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0003 | 1 | 8 | 0.1250 | 2137 | c.-20 others(2148): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
RIN2_chr20_19753258_20007456 | 19924462 | T | TCACCTTC others(2130): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01175.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0067 a0001c0001t0004g0085 |
2 | 144 | 0.0139 | 2137 | c.58- others(2154): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
VNN1_chr6_132675849_132719055 | 132706868 | C | CAAAAGAA others(2130): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0005 | a0005c0005 | a0005c0005t0022 | a0005c0005t0022g0125 | 1 | 356 | 0.0028 | 2137 | c.341 others(2154): Show |
VNN1 | ENSG00000112299.8 | transcript | ENST00000367928.5 | protein_coding | 2/6 | chr6 | TogoVar | |||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2131): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0007 | a0007c0008 | a0007c0008t0024 | a0007c0008t0024g0059 | 1 | 44 | 0.0227 | 2138 | c.108 others(2155): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706453 | C | CATAGATA others(2131): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0003 | a0003c0074 | a0003c0074t0002 | a0003c0074t0002g0238 | 1 | 229 | 0.0044 | 2138 | c.228 others(2155): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706453 | C | CATAGATA others(2131): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0003 | a0003c0073 | a0003c0073t0002 | a0003c0073t0002g0231 | 1 | 229 | 0.0044 | 2138 | c.228 others(2155): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706453 | C | CATAGATA others(2131): Show |
upstream_gene_variant | MODIFIER | HG03516.hp2 | a0002 | a0002c0005 | a0002c0005t0014 | a0002c0005t0014g0071 | 1 | 289 | 0.0035 | 2138 | c.-49 others(2149): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4747 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706453 | C | CATAGATA others(2131): Show |
upstream_gene_variant | MODIFIER | HG02647.hp1 | a0004 | a0004c0006 | a0004c0006t0004 | a0004c0006t0004g0275 | 1 | 289 | 0.0035 | 2138 | c.-49 others(2149): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4747 | chr4 | TogoVar | |||||||
VNN1_chr6_132675849_132719055 | 132706868 | C | CAAAAGAA others(2131): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0005 | a0005c0005 | a0005c0005t0010 | a0005c0005t0010g0123 | 1 | 356 | 0.0028 | 2138 | c.341 others(2155): Show |
VNN1 | ENSG00000112299.8 | transcript | ENST00000367928.5 | protein_coding | 2/6 | chr6 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(2132): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 76 | 0.0132 | 2139 | c.955 others(2156): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33323275 | G | GAATATAT others(2132): Show |
upstream_gene_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0025 | 1 | 302 | 0.0033 | 2139 | c.-17 others(2150): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1694 | chr21 | TogoVar | |||||||
KIF25_chr6_167992671_168050091 | 167997496 | A | ATCTGCAG others(2132): Show |
upstream_gene_variant | MODIFIER | HG00738.hp1 HG01167.hp1 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0235 a0001c0001t0001g0236 |
3 | 164 | 0.0183 | 2139 | c.-19 others(2150): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 174 | chr6 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251122 | C | CCACCACC others(2132): Show |
downstream_gene_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 1 | 322 | 0.0031 | 2139 | c.*44 others(2150): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3107 | chr10 | TogoVar |