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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ERC2_chr3_55503311_56473467 | 55754539 | T | TAAATATG others(6072): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0034 | 1 | 52 | 0.0192 | 6079 | c.256 others(6100): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 14/17 | chr3 | TogoVar | |||||||
FAM237B_chr7_90311807_90326304 | 90315095 | C | CAAAAAAC others(6072): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 NA18967.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 | 2 | 370 | 0.0054 | 6079 | c.*42 others(6090): Show |
FAM237B | ENSG00000283267.2 | transcript | ENST00000692316.1 | protein_coding | 1711 | chr7 | TogoVar | |||||||
GPHN_chr14_66503147_67186803 | 66953146 | A | ACACCTTT others(6072): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 108 | 0.0093 | 6079 | c.829 others(6098): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GPHN_chr14_66503147_67186803 | 66953146 | A | ACACCTTT others(6072): Show |
intron_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 108 | 0.0093 | 6079 | c.829 others(6098): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GPHN_chr14_66503147_67186803 | 66953146 | A | ACACCTTT others(6072): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 108 | 0.0093 | 6079 | c.829 others(6098): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
IPCEF1_chr6_154149496_154361803 | 154263429 | T | TAGGGAGT others(6072): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0070 | 1 | 259 | 0.0039 | 6079 | c.36+ others(6094): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 3/11 | chr6 | TogoVar | |||||||
KLHL3_chr5_137612500_137741089 | 137679085 | A | AGATAGTA others(6072): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0166 | 1 | 197 | 0.0051 | 6079 | c.527 others(6096): Show |
KLHL3 | ENSG00000146021.15 | transcript | ENST00000309755.9 | protein_coding | 5/14 | chr5 | TogoVar | |||||||
MED12L_chr3_151080664_151441653 | 151430755 | T | TCCCGAAG others(6072): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0002 | a0001c0002t0049 | a0001c0002t0049g0123 | 1 | 126 | 0.0079 | 6079 | c.649 others(6096): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151430755 | T | TCCCGAAG others(6072): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0200 | 1 | 126 | 0.0079 | 6079 | c.649 others(6096): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151430755 | T | TCCCGAAG others(6072): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0070 | 1 | 126 | 0.0079 | 6079 | c.649 others(6096): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151430755 | T | TCCCGAAG others(6072): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0003 | a0003c0006 | a0003c0006t0015 | a0003c0006t0015g0101 | 1 | 126 | 0.0079 | 6079 | c.649 others(6096): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151430755 | T | TCCCGAAG others(6072): Show |
intron_variant | MODIFIER | HG03098.hp1 NA21309.hp1 |
a0001 | a0001c0013a0001c0023 | a0001c0013t0002a0001c0023t0002 | a0001c0013t0002g0258 a0001c0023t0002g0027 |
2 | 127 | 0.0157 | 6079 | c.649 others(6096): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151430755 | T | TCCCGAAG others(6072): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0015 | a0001c0015t0009 | a0001c0015t0009g0245 | 1 | 126 | 0.0079 | 6079 | c.649 others(6096): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151430755 | T | TCCCGAAG others(6072): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0015 | a0001c0015t0002 | a0001c0015t0002g0018 | 1 | 126 | 0.0079 | 6079 | c.649 others(6096): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151430755 | T | TCCCGAAG others(6072): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01361.hp2 HG02083.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0011others(1): Show | a0001c0001t0002a0001c0004t0002a0001c0004t0022others(3): Show | a0001c0001t0002g0230 a0001c0001t0002g0241 a0001c0001t0002g0243 others(8): Show |
11 | 136 | 0.0809 | 6079 | c.649 others(6096): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151430755 | T | TCCCGAAG others(6072): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0149 | 1 | 126 | 0.0079 | 6079 | c.649 others(6096): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151430755 | T | TCCCGAAG others(6072): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02809.hp1 NA20300.hp2 |
a0001 | a0001c0001a0001c0019 | a0001c0001t0002a0001c0019t0002 | a0001c0001t0002g0158 a0001c0019t0002g0024 a0001c0019t0002g0025 |
3 | 128 | 0.0234 | 6079 | c.649 others(6096): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151430755 | T | TCCCGAAG others(6072): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0184 | 1 | 126 | 0.0079 | 6079 | c.649 others(6096): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151430755 | T | TCCCGAAG others(6072): Show |
intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0093 | 1 | 126 | 0.0079 | 6079 | c.649 others(6096): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151430755 | T | TCCCGAAG others(6072): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02015.hp2 HG03453.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0009others(8): Show | a0001c0001t0002g0052 a0001c0001t0008g0265 a0001c0001t0009g0134 others(9): Show |
12 | 137 | 0.0876 | 6079 | c.649 others(6096): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151430755 | T | TCCCGAAG others(6072): Show |
intron_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0239 | 1 | 126 | 0.0079 | 6079 | c.649 others(6096): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151430755 | T | TCCCGAAG others(6072): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0009 | a0001c0009t0043 | a0001c0009t0043g0026 | 1 | 126 | 0.0079 | 6079 | c.649 others(6096): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151430756 | C | CCCGAAGA others(6072): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0211 | 1 | 278 | 0.0036 | 6079 | c.649 others(6096): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RBFOX2_chr22_35733736_36033824 | 35735298 | T | TCCACCTG others(6072): Show |
downstream_gene_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0024 | 1 | 23 | 0.0435 | 6079 | c.*89 others(6090): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3437 | chr22 | TogoVar | |||||||
TTC28_chr22_27973014_28684840 | 28059913 | C | CTACCCAT others(6072): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0008 | a0001c0008t0054 | a0001c0008t0054g0049 | 1 | 178 | 0.0056 | 6079 | c.393 others(6100): Show |
TTC28 | ENSG00000100154.15 | transcript | ENST00000397906.7 | protein_coding | 12/22 | chr22 | TogoVar | |||||||
UBE3D_chr6_82887390_83070841 | 83035564 | T | TAAGAAGT others(6072): Show |
intron_variant | MODIFIER | HG03704.hp1 NA19002.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 a0001c0001t0001g0165 |
2 | 179 | 0.0112 | 6079 | c.667 others(6096): Show |
UBE3D | ENSG00000118420.17 | transcript | ENST00000369747.8 | protein_coding | 5/9 | chr6 | TogoVar | |||||||
ZBTB16_chr11_114054711_114261765 | 114087737 | A | AGAAACGA others(6072): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0102 | 1 | 276 | 0.0036 | 6079 | c.126 others(6100): Show |
ZBTB16 | ENSG00000109906.15 | transcript | ENST00000335953.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CFAP69_chr7_90240174_90316063 | 90315095 | C | CAAAAAAC others(6073): Show |
downstream_gene_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0021 | 1 | 302 | 0.0033 | 6080 | c.*48 others(6091): Show |
CFAP69 | ENSG00000105792.19 | transcript | ENST00000389297.8 | protein_coding | 4033 | chr7 | TogoVar | |||||||
GPHN_chr14_66503147_67186803 | 66953146 | A | ACACCTTT others(6073): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 108 | 0.0093 | 6080 | c.829 others(6099): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GPHN_chr14_66503147_67186803 | 66953146 | A | ACACCTTT others(6073): Show |
intron_variant | MODIFIER | HG00280.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 a0001c0001t0001g0119 |
2 | 109 | 0.0183 | 6080 | c.829 others(6099): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GPHN_chr14_66503147_67186803 | 66953146 | A | ACACCTTT others(6073): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0118 | 1 | 108 | 0.0093 | 6080 | c.829 others(6099): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GPHN_chr14_66503147_67186803 | 66953146 | A | ACACCTTT others(6073): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01934.hp1 HG01943.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 others(2): Show |
5 | 112 | 0.0446 | 6080 | c.829 others(6099): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
IPCEF1_chr6_154149496_154361803 | 154263429 | T | TAGGGAGT others(6073): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0210 | 1 | 259 | 0.0039 | 6080 | c.36+ others(6095): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 3/11 | chr6 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132364472 | T | TACACCCA others(6073): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0193 | 1 | 216 | 0.0046 | 6080 | c.129 others(6097): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151430755 | T | TCCCGAAG others(6073): Show |
intron_variant | MODIFIER | NA18982.hp1 NA19058.hp2 |
a0001 | a0001c0002a0001c0015 | a0001c0002t0002a0001c0015t0002 | a0001c0002t0002g0092 a0001c0015t0002g0013 |
2 | 127 | 0.0157 | 6080 | c.649 others(6097): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151430755 | T | TCCCGAAG others(6073): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0118 | 1 | 126 | 0.0079 | 6080 | c.649 others(6097): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151430755 | T | TCCCGAAG others(6073): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0220 | 1 | 126 | 0.0079 | 6080 | c.649 others(6097): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151430755 | T | TCCCGAAG others(6073): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0010 | 1 | 126 | 0.0079 | 6080 | c.649 others(6097): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151430755 | T | TCCCGAAG others(6073): Show |
intron_variant | MODIFIER | NA19006.hp1 | a0001 | a0001c0015 | a0001c0015t0002 | a0001c0015t0002g0015 | 1 | 126 | 0.0079 | 6080 | c.649 others(6097): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151430755 | T | TCCCGAAG others(6073): Show |
intron_variant | MODIFIER | HG04228.hp1 NA19000.hp2 |
a0001 | a0001c0004 | a0001c0004t0002a0001c0004t0022 | a0001c0004t0002g0143 a0001c0004t0022g0122 |
2 | 127 | 0.0157 | 6080 | c.649 others(6097): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151430755 | T | TCCCGAAG others(6073): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0274 | 1 | 126 | 0.0079 | 6080 | c.649 others(6097): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(6073): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01167.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 2 | 4 | 0.5000 | 6080 | c.-34 others(6095): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(6073): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 3 | 0.3333 | 6080 | c.-34 others(6095): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RARB_chr3_25423263_25602932 | 25444948 | T | TTCTTTTT others(6073): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0039 | 1 | 288 | 0.0035 | 6080 | c.157 others(6099): Show |
RARB | ENSG00000077092.20 | transcript | ENST00000330688.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
STAU2_chr8_73415369_73751840 | 73602328 | T | TAATATTT others(6073): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0060 | 1 | 238 | 0.0042 | 6080 | c.102 others(6099): Show |
STAU2 | ENSG00000040341.18 | transcript | ENST00000524300.6 | protein_coding | 10/14 | chr8 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215753345 | T | TAAAGACA others(6073): Show |
intron_variant | MODIFIER | HG03130.hp1 HG06807.hp2 |
a0042a0059 | a0042c0056a0059c0025 | a0042c0056t0005a0059c0025t0001 | a0042c0056t0005g0070 a0059c0025t0001g0039 |
2 | 72 | 0.0278 | 6080 | c.113 others(6101): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 58/71 | chr1 | TogoVar | |||||||
WDR11_chr10_120846362_120914524 | 120902665 | T | TAAAAAAG others(6073): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02895.hp2 HG02897.hp1 others(2): Show |
a0001 | a0001c0008 | a0001c0008t0005 | a0001c0008t0005g0040 a0001c0008t0005g0230 a0001c0008t0005g0231 others(1): Show |
5 | 366 | 0.0137 | 6080 | c.275 others(6097): Show |
WDR11 | ENSG00000120008.16 | transcript | ENST00000263461.11 | protein_coding | 22/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GPHN_chr14_66503147_67186803 | 66953146 | A | ACACCTTT others(6074): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 108 | 0.0093 | 6081 | c.829 others(6100): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151430755 | T | TCCCGAAG others(6074): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0066 | 1 | 126 | 0.0079 | 6081 | c.649 others(6098): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151430755 | T | TCCCGAAG others(6074): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0013 | a0001c0013t0009 | a0001c0013t0009g0104 | 1 | 126 | 0.0079 | 6081 | c.649 others(6098): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |