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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PPP6R2_chr22_50338327_50450090 | 50397738 | A | AGTGTGAC others(2058): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0039a0001c0002t0001g0040 | 2 | 340 | 0.0059 | 2065 | c.227 others(2082): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ATF7IP_chr12_14360682_14507930 | 14374988 | T | TTTTTTTT others(2059): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0063 | 1 | 346 | 0.0029 | 2066 | c.-8+ others(2081): Show |
ATF7IP | ENSG00000171681.13 | transcript | ENST00000261168.9 | protein_coding | 1/14 | chr12 | TogoVar | ||||||
B4GALT1_chr9_33105642_33172336 | 33130550 | T | TTCAATAT others(2059): Show |
intron_variant | MODIFIER | NA18994.hp2 NA19012.hp1 NA19063.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0010 | a0001c0001t0002g0195a0001c0001t0002g0219a0001c0001t0002g0269others(2): Show | 5 | 366 | 0.0137 | 2066 | c.648 others(2083): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2/5 | chr9 | TogoVar | ||||||
CLEC17A_chr19_14578084_14617035 | 14595973 | A | ATGTTGTT others(2059): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0043a0001c0001t0004g0044 | 2 | 364 | 0.0055 | 2066 | c.445 others(2081): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CNOT3_chr19_54132762_54160681 | 54133762 | C | CCTCTCTC others(2059): Show |
upstream_gene_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0103 | 1 | 223 | 0.0045 | 2066 | c.-42 others(2077): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 3999 | chr19 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(2059): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0065 | 1 | 272 | 0.0037 | 2066 | c.109 others(2085): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2059): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0224 | 1 | 390 | 0.0026 | 2066 | c.972 others(2079): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
IFNAR1_chr21_33319970_33364864 | 33323275 | G | GAATATAT others(2059): Show |
upstream_gene_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0025 | 1 | 323 | 0.0031 | 2066 | c.-17 others(2077): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1694 | chr21 | TogoVar | ||||||
KCNQ2_chr20_63395208_63477655 | 63450548 | A | ACTGCTGG others(2059): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0002 | a0001c0002t0096 | a0001c0002t0096g0039 | 1 | 330 | 0.0030 | 2066 | c.297 others(2083): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 1/16 | chr20 | TogoVar | ||||||
MAN1B1_chr9_137081985_137114183 | 137102262 | T | TAGGTCGG others(2059): Show |
intron_variant | MODIFIER | HG03017.hp1 HG03491.hp1 HG03654.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0056a0001c0001t0002g0128a0001c0001t0002g0135others(1): Show | 4 | 404 | 0.0099 | 2066 | c.125 others(2083): Show |
MAN1B1 | ENSG00000177239.16 | transcript | ENST00000371589.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PRPF31_chr19_54110754_54136713 | 54133762 | C | CCTCTCTC others(2059): Show |
downstream_gene_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 227 | 0.0044 | 2066 | c.*23 others(2077): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2050 | chr19 | TogoVar | ||||||
SERPINF2_chr17_1737871_1760265 | 1739135 | A | AGCCTGAT others(2059): Show |
upstream_gene_variant | MODIFIER | HG02257.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0041 | 1 | 445 | 0.0023 | 2066 | c.-37 others(2077): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 3735 | chr17 | TogoVar | ||||||
WDR81_chr17_1719704_1743585 | 1739135 | A | AGCCTGAT others(2059): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0016 | a0001c0016t0003 | a0001c0016t0003g0013 | 3 | 431 | 0.0070 | 2066 | c.*14 others(2077): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 551 | chr17 | TogoVar | ||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2060): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 218 | 0.0046 | 2067 | c.108 others(2084): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | ||||||
ATF7IP_chr12_14360682_14507930 | 14374988 | T | TTTTTTTT others(2060): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0069 | 1 | 346 | 0.0029 | 2067 | c.-8+ others(2082): Show |
ATF7IP | ENSG00000171681.13 | transcript | ENST00000261168.9 | protein_coding | 1/14 | chr12 | TogoVar | ||||||
ATF7IP_chr12_14360682_14507930 | 14374988 | T | TTTTTTTT others(2060): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0062 | 1 | 346 | 0.0029 | 2067 | c.-8+ others(2082): Show |
ATF7IP | ENSG00000171681.13 | transcript | ENST00000261168.9 | protein_coding | 1/14 | chr12 | TogoVar | ||||||
CCDC6_chr10_59783747_59911556 | 59882566 | G | GCGGGGAG others(2060): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020 | 1 | 288 | 0.0035 | 2067 | c.303 others(2086): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45500695 | T | TGTGTGTT others(2060): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0054 | a0001c0054t0002 | a0001c0054t0002g0201 | 1 | 292 | 0.0034 | 2067 | c.268 others(2086): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(2060): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0213 | 1 | 298 | 0.0034 | 2067 | c.126 others(2084): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(2060): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0121 | 1 | 298 | 0.0034 | 2067 | c.126 others(2084): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(2060): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0122 | 1 | 298 | 0.0034 | 2067 | c.126 others(2084): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EVC_chr4_5706201_5819305 | 5706421 | G | GATAGATA others(2060): Show |
upstream_gene_variant | MODIFIER | HG02630.hp2 | a0002 | a0002c0063 | a0002c0063t0001 | a0002c0063t0001g0055 | 1 | 369 | 0.0027 | 2067 | c.-49 others(2078): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4779 | chr4 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137379388 | G | GGGGCGTC others(2060): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0018 | 1 | 82 | 0.0122 | 2067 | c.120 others(2084): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 3/21 | chr9 | TogoVar | ||||||
GRID2_chr4_92298966_93779566 | 92649031 | A | ATATTTCA others(2060): Show |
intron_variant | MODIFIER | HG02922.hp2 NA19030.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0034a0002c0003t0001g0033 | 2 | 34 | 0.0588 | 2067 | c.244 others(2086): Show |
GRID2 | ENSG00000152208.13 | transcript | ENST00000282020.9 | protein_coding | 2/15 | chr4 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399271 | C | CCACCACC others(2060): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0046 | 1 | 314 | 0.0032 | 2067 | c.-25 others(2084): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
HPCAL1_chr2_10297904_10432604 | 10399439 | C | CCACCACC others(2060): Show |
intron_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0165 | 1 | 314 | 0.0032 | 2067 | c.-25 others(2084): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MAN1B1_chr9_137081985_137114183 | 137102282 | C | CATTCACG others(2060): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03579.hp1 NA18906.hp2 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0032a0002c0003t0002g0099a0002c0003t0002g0102 | 4 | 404 | 0.0099 | 2067 | c.125 others(2084): Show |
MAN1B1 | ENSG00000177239.16 | transcript | ENST00000371589.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
MAN1B1_chr9_137081985_137114183 | 137102282 | C | CATTCACG others(2060): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0108 | 1 | 404 | 0.0025 | 2067 | c.125 others(2084): Show |
MAN1B1 | ENSG00000177239.16 | transcript | ENST00000371589.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
OR2T1_chr1_248398048_248413020 | 248408943 | A | AGCATTTG others(2060): Show |
downstream_gene_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0093 | 1 | 266 | 0.0038 | 2067 | c.*18 others(2078): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 924 | chr1 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196811306 | T | TTCCCTCC others(2060): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 178 | 0.0056 | 2067 | c.773 others(2082): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
RAB11FIP3_chr16_420649_528011 | 458604 | G | GGGTTCAC others(2060): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0149 | 1 | 295 | 0.0034 | 2067 | c.715 others(2084): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RAB11FIP3_chr16_420649_528011 | 458604 | G | GGGTTCAC others(2060): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0255 | 1 | 295 | 0.0034 | 2067 | c.715 others(2084): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SBNO2_chr19_1102638_1179268 | 1148485 | C | CCACCCCA others(2060): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0000 | a0000c0009 | a0000c0009t0001 | a0000c0009t0001g0168 | 1 | 203 | 0.0049 | 2067 | c.167 others(2082): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 3/31 | chr19 | TogoVar | ||||||
TUBGCP5_chr15_22994177_23044569 | 23042774 | A | ACATCATA others(2060): Show |
upstream_gene_variant | MODIFIER | HG02257.hp1 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0276a0001c0001t0003g0278 | 2 | 351 | 0.0057 | 2067 | c.-32 others(2078): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 3206 | chr15 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46293658 | A | ACAGCCAC others(2060): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 404 | 0.0025 | 2067 | c.339 others(2084): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ZNF605_chr12_132913306_132961306 | 132954429 | A | AGGAGAAG others(2060): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0046 | 1 | 126 | 0.0079 | 2067 | c.-28 others(2086): Show |
ZNF605 | ENSG00000196458.11 | transcript | ENST00000360187.9 | protein_coding | 1/4 | chr12 | TogoVar | ||||||
ADGRE2_chr19_14727392_14783560 | 14763760 | C | CCTCCTCC others(2061): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02647.hp1 HG02818.hp2 others(3): Show |
a0002 | a0002c0002a0002c0013 | a0002c0002t0001a0002c0002t0006a0002c0013t0006 | a0002c0002t0001g0156a0002c0002t0001g0158a0002c0002t0001g0169others(3): Show | 6 | 218 | 0.0275 | 2068 | c.108 others(2085): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | ||||||
ADGRE2_chr19_14727392_14783560 | 14763760 | C | CCTCCTCC others(2061): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0005 | 1 | 218 | 0.0046 | 2068 | c.108 others(2085): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2061): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 316 | 0.0032 | 2068 | c.44- others(2081): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
DCDC1_chr11_30858603_31374739 | 30928614 | A | ATTACCAT others(2061): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0008 | a0008c0011 | a0008c0011t0003 | a0008c0011t0003g0088 | 1 | 152 | 0.0066 | 2068 | c.289 others(2087): Show |
DCDC1 | ENSG00000170959.15 | transcript | ENST00000684477.1 | protein_coding | 22/38 | chr11 | TogoVar | ||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2061): Show |
downstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0002 | a0001c0002t0079 | a0001c0002t0079g0029 | 1 | 425 | 0.0024 | 2068 | c.*68 others(2079): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | ||||||
NOTCH1_chr9_136489433_136551048 | 136535607 | G | GGTGCAGG others(2061): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0012 | a0001c0012t0002 | a0001c0012t0002g0130 | 1 | 324 | 0.0031 | 2068 | c.140 others(2085): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
SERPINF2_chr17_1737871_1760265 | 1741067 | G | GAGCCTGA others(2061): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0072 | 1 | 445 | 0.0023 | 2068 | c.-18 others(2079): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 1803 | chr17 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157313244 | G | GTGTGCAC others(2061): Show |
intron_variant | MODIFIER | HG00408.hp1 HG02135.hp2 HG02523.hp2 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0186a0001c0001t0014g0187a0001c0001t0014g0252 | 3 | 344 | 0.0087 | 2068 | c.327 others(2085): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
ZNF605_chr12_132913306_132961306 | 132954429 | A | AGGAGAAG others(2061): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0067 | 1 | 126 | 0.0079 | 2068 | c.-28 others(2087): Show |
ZNF605 | ENSG00000196458.11 | transcript | ENST00000360187.9 | protein_coding | 1/4 | chr12 | TogoVar | ||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2062): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 218 | 0.0046 | 2069 | c.108 others(2086): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | ||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2062): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0111 | 1 | 218 | 0.0046 | 2069 | c.108 others(2086): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | ||||||
ADGRE2_chr19_14727392_14783560 | 14763760 | C | CCTCCTCC others(2062): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0088 | 1 | 218 | 0.0046 | 2069 | c.108 others(2086): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | ||||||
ADGRE2_chr19_14727392_14783560 | 14763760 | C | CCTCCTCC others(2062): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0002 | a0002c0002 | a0002c0002t0014 | a0002c0002t0014g0058 | 1 | 218 | 0.0046 | 2069 | c.108 others(2086): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2062): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0009 | a0009c0053 | a0009c0053t0001 | a0009c0053t0001g0090 | 1 | 104 | 0.0096 | 2069 | c.354 others(2088): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar |