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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2059): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0224 | 1 | 4 | 0.2500 | 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 | 302 | 0.0033 | 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 | a0001c0002t0085 | a0001c0002t0085g0042 | 1 | 5 | 0.2000 | 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 | a0001c0001t0002g0052 a0001c0001t0002g0116 a0001c0001t0002g0125 others(1): Show |
4 | 20 | 0.2000 | 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 | 194 | 0.0052 | 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 | a0002c0002t0001g0033 | 1 | 307 | 0.0033 | 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 | 305 | 0.0098 | 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 | 44 | 0.0227 | 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 | a0001c0001t0002g0072 | 1 | 341 | 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 | a0001c0001t0019g0065 | 1 | 341 | 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 | a0001c0001t0002g0021 | 1 | 139 | 0.0072 | 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 | a0001c0054t0002g0169 | 1 | 226 | 0.0044 | 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 | 2 | 0.5000 | 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 | 2 | 0.5000 | 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 | 2 | 0.5000 | 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 | 310 | 0.0032 | 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 | a0006 | a0006c0005 | a0006c0005t0001 | a0006c0005t0001g0018 | 1 | 76 | 0.0132 | 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 | a0001c0001t0001g0033 a0002c0003t0001g0034 |
2 | 12 | 0.1667 | 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 | a0001c0001t0002g0045 | 1 | 227 | 0.0044 | 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 | 297 | 0.0034 | 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 | a0002c0003t0002g0020 a0002c0003t0002g0092 |
4 | 400 | 0.0100 | 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 | a0002c0003t0002g0100 | 1 | 397 | 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 | 246 | 0.0041 | 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 | 98 | 0.0102 | 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 | 207 | 0.0048 | 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 | a0001c0002t0002g0260 | 1 | 207 | 0.0048 | 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 | a0003 | a0003c0009 | a0003c0009t0001 | a0003c0009t0001g0169 | 1 | 121 | 0.0083 | 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 | a0001c0001t0003g0275 a0001c0001t0003g0277 |
2 | 350 | 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 | 314 | 0.0032 | 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 | a0001c0001t0011g0045 | 1 | 35 | 0.0286 | 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 | a0002c0002t0001g0156 a0002c0002t0001g0158 a0002c0002t0001g0169 others(3): Show |
6 | 206 | 0.0291 | 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 | 201 | 0.0050 | 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 | 2 | 0.5000 | 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 | a0008c0011t0003g0089 | 1 | 45 | 0.0222 | 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 | a0001c0002t0075 | a0001c0002t0075g0029 | 1 | 66 | 0.0152 | 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 | a0001c0012t0002g0129 | 1 | 284 | 0.0035 | 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 | a0002c0002t0001g0002 | 1 | 348 | 0.0029 | 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 | a0001c0001t0014g0184 a0001c0001t0014g0185 a0001c0001t0014g0247 |
3 | 147 | 0.0204 | 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 | 35 | 0.0286 | 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 | 44 | 0.0227 | 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 | 44 | 0.0227 | 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 | 201 | 0.0050 | 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 | 201 | 0.0050 | 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 | a0005 | a0005c0052 | a0005c0052t0001 | a0005c0052t0001g0090 | 1 | 13 | 0.0769 | 2069 | c.354 others(2088): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 477345 | A | AGGGGGAG others(2062): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0080 | 1 | 37 | 0.0270 | 2069 | c.158 others(2086): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | |||||||
FAM163B_chr9_133572081_133614389 | 133588612 | C | CTGAAGGA others(2062): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0194 | 1 | 8 | 0.1250 | 2069 | c.-23 others(2086): Show |
FAM163B | ENSG00000196990.10 | transcript | ENST00000673969.1 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(2062): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0066 | a0066c0132 | a0066c0132t0001 | a0066c0132t0001g0054 | 1 | 8 | 0.1250 | 2069 | c.723 others(2086): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
MAN1B1_chr9_137081985_137114183 | 137102262 | T | TAGGTCGG others(2062): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01346.hp2 HG01433.hp1 others(2): Show |
a0001a0008 | a0001c0001a0008c0016 | a0001c0001t0002a0008c0016t0002 | a0001c0001t0002g0015 a0008c0016t0002g0126 |
5 | 21 | 0.2381 | 2069 | c.125 others(2086): Show |
MAN1B1 | ENSG00000177239.16 | transcript | ENST00000371589.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MAN1B1_chr9_137081985_137114183 | 137102262 | T | TAGGTCGG others(2062): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0114 | 1 | 17 | 0.0588 | 2069 | c.125 others(2086): Show |
MAN1B1 | ENSG00000177239.16 | transcript | ENST00000371589.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MAN1B1_chr9_137081985_137114183 | 137102262 | T | TAGGTCGG others(2062): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00642.hp2 HG00733.hp1 others(27): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0005t0002others(1): Show | a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 others(22): Show |
30 | 46 | 0.6522 | 2069 | c.125 others(2086): Show |
MAN1B1 | ENSG00000177239.16 | transcript | ENST00000371589.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |