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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL5A1_chr9_134636803_134849843 | 134729513 | A | AGAGCGTG others(667): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0010 | a0001c0010t0026 | a0001c0010t0026g0049 | 1 | 272 | 0.0037 | 674 | c.924 others(689): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 6/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL5A1_chr9_134636803_134849843 | 134729517 | T | TGTGTGTG others(667): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0139 | 1 | 272 | 0.0037 | 674 | c.925 others(689): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 6/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL5A1_chr9_134636803_134849843 | 134729517 | T | TGTGTGTG others(667): Show |
intron_variant | MODIFIER | HG02965.hp2 NA19005.hp2 NA19080.hp2 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0004a0001c0003t0005 | a0001c0003t0001g0222a0001c0003t0004g0262a0001c0003t0005g0070 | 3 | 272 | 0.0110 | 674 | c.925 others(689): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 6/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DCDC2_chr6_24166755_24363059 | 24238180 | G | GGGAGGAA others(667): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0057 | 1 | 216 | 0.0046 | 674 | c.923 others(693): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | ||||||
EBF2_chr8_25836725_26050413 | 26005387 | A | ATATAATA others(667): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02647.hp2 HG02922.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0005 | a0001c0001t0002g0026a0001c0001t0002g0028a0002c0003t0005g0027 | 3 | 220 | 0.0136 | 674 | c.551 others(693): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 6/15 | chr8 | TogoVar | ||||||
EFNA2_chr19_1280873_1306431 | 1282324 | G | GGGGGAAG others(667): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 | 1 | 294 | 0.0034 | 674 | c.-38 others(685): Show |
EFNA2 | ENSG00000099617.4 | transcript | ENST00000215368.4 | protein_coding | 3548 | chr19 | TogoVar | ||||||
EFNA2_chr19_1280873_1306431 | 1282324 | G | GGGGGAAG others(667): Show |
upstream_gene_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 294 | 0.0034 | 674 | c.-38 others(685): Show |
EFNA2 | ENSG00000099617.4 | transcript | ENST00000215368.4 | protein_coding | 3548 | chr19 | TogoVar | ||||||
EFNA2_chr19_1280873_1306431 | 1282324 | G | GGGGGAAG others(667): Show |
upstream_gene_variant | MODIFIER | HG00621.hp1 NA18747.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0034a0001c0001t0006g0113 | 2 | 294 | 0.0068 | 674 | c.-38 others(685): Show |
EFNA2 | ENSG00000099617.4 | transcript | ENST00000215368.4 | protein_coding | 3548 | chr19 | TogoVar | ||||||
EFNA2_chr19_1280873_1306431 | 1282324 | G | GGGGGAAG others(667): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00642.hp1 others(42): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0009a0001c0001t0001g0014a0001c0001t0001g0140others(37): Show | 45 | 294 | 0.1531 | 674 | c.-38 others(685): Show |
EFNA2 | ENSG00000099617.4 | transcript | ENST00000215368.4 | protein_coding | 3548 | chr19 | TogoVar | ||||||
EFNA2_chr19_1280873_1306431 | 1282324 | G | GGGGGAAG others(667): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 HG02630.hp1 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0054a0001c0001t0056a0001c0001t0057 | a0001c0001t0054g0020a0001c0001t0056g0056a0001c0001t0057g0020 | 3 | 294 | 0.0102 | 674 | c.-38 others(685): Show |
EFNA2 | ENSG00000099617.4 | transcript | ENST00000215368.4 | protein_coding | 3548 | chr19 | TogoVar | ||||||
EFNA2_chr19_1280873_1306431 | 1282324 | G | GGGGGAAG others(667): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(185): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(60): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(162): Show | 188 | 294 | 0.6395 | 674 | c.-38 others(685): Show |
EFNA2 | ENSG00000099617.4 | transcript | ENST00000215368.4 | protein_coding | 3548 | chr19 | TogoVar | ||||||
EFNA2_chr19_1280873_1306431 | 1282324 | G | GGGGGAAG others(667): Show |
upstream_gene_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0002 | 1 | 294 | 0.0034 | 674 | c.-38 others(685): Show |
EFNA2 | ENSG00000099617.4 | transcript | ENST00000215368.4 | protein_coding | 3548 | chr19 | TogoVar | ||||||
EFNA2_chr19_1280873_1306431 | 1282324 | G | GGGGGAAG others(667): Show |
upstream_gene_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 294 | 0.0034 | 674 | c.-38 others(685): Show |
EFNA2 | ENSG00000099617.4 | transcript | ENST00000215368.4 | protein_coding | 3548 | chr19 | TogoVar | ||||||
EFNA2_chr19_1280873_1306431 | 1282378 | A | AGGAAGGA others(667): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 HG02280.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0044a0001c0004t0081 | a0001c0001t0044g0053a0001c0004t0081g0127 | 2 | 294 | 0.0068 | 674 | c.-37 others(685): Show |
EFNA2 | ENSG00000099617.4 | transcript | ENST00000215368.4 | protein_coding | 3494 | chr19 | TogoVar | ||||||
ENTREP2_chr15_29115252_29575979 | 29131600 | T | TCACACAC others(667): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01109.hp2 HG01891.hp2 others(2): Show |
a0001a0002a0003 | a0001c0010a0002c0003a0002c0012others(1): Show | a0001c0010t0001a0002c0003t0013a0002c0012t0009others(1): Show | a0001c0010t0001g0073a0002c0003t0013g0017a0002c0003t0013g0019others(2): Show | 5 | 125 | 0.0400 | 674 | c.928 others(691): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 7/10 | chr15 | TogoVar | ||||||
FAM174C_chr19_1270530_1284228 | 1282324 | G | GGGGGAAG others(667): Show |
downstream_gene_variant | MODIFIER | HG00621.hp1 NA18747.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0001a0001c0001t0007g0001 | 2 | 254 | 0.0079 | 674 | c.*35 others(685): Show |
FAM174C | ENSG00000228300.14 | transcript | ENST00000409293.6 | protein_coding | 3097 | chr19 | TogoVar | ||||||
FAM174C_chr19_1270530_1284228 | 1282324 | G | GGGGGAAG others(667): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00642.hp1 others(41): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0020a0001c0002t0001g0002others(10): Show | 44 | 254 | 0.1732 | 674 | c.*35 others(685): Show |
FAM174C | ENSG00000228300.14 | transcript | ENST00000409293.6 | protein_coding | 3097 | chr19 | TogoVar | ||||||
FAM174C_chr19_1270530_1284228 | 1282324 | G | GGGGGAAG others(667): Show |
downstream_gene_variant | MODIFIER | HG00639.hp1 HG02630.hp1 HG03041.hp1 |
a0001 | a0001c0015a0001c0027a0001c0028 | a0001c0015t0001a0001c0027t0003a0001c0028t0003 | a0001c0015t0001g0015a0001c0027t0003g0040a0001c0028t0003g0015 | 3 | 254 | 0.0118 | 674 | c.*35 others(685): Show |
FAM174C | ENSG00000228300.14 | transcript | ENST00000409293.6 | protein_coding | 3097 | chr19 | TogoVar | ||||||
FAM174C_chr19_1270530_1284228 | 1282324 | G | GGGGGAAG others(667): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(163): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0004others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(23): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(34): Show | 166 | 254 | 0.6535 | 674 | c.*35 others(685): Show |
FAM174C | ENSG00000228300.14 | transcript | ENST00000409293.6 | protein_coding | 3097 | chr19 | TogoVar | ||||||
FAM174C_chr19_1270530_1284228 | 1282324 | G | GGGGGAAG others(667): Show |
downstream_gene_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 254 | 0.0039 | 674 | c.*35 others(685): Show |
FAM174C | ENSG00000228300.14 | transcript | ENST00000409293.6 | protein_coding | 3097 | chr19 | TogoVar | ||||||
FAM174C_chr19_1270530_1284228 | 1282324 | G | GGGGGAAG others(667): Show |
downstream_gene_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 254 | 0.0039 | 674 | c.*35 others(685): Show |
FAM174C | ENSG00000228300.14 | transcript | ENST00000409293.6 | protein_coding | 3097 | chr19 | TogoVar | ||||||
FAM174C_chr19_1270530_1284228 | 1282378 | A | AGGAAGGA others(667): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0009 | a0001c0009t0004 | a0001c0009t0004g0019 | 1 | 254 | 0.0039 | 674 | c.*36 others(685): Show |
FAM174C | ENSG00000228300.14 | transcript | ENST00000409293.6 | protein_coding | 3151 | chr19 | TogoVar | ||||||
GAS6_chr13_113815549_113869076 | 113817328 | C | CGGGACAC others(667): Show |
downstream_gene_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0122 | 1 | 143 | 0.0070 | 674 | c.*35 others(685): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 3220 | chr13 | TogoVar | ||||||
GCH1_chr14_54837017_54907826 | 54903940 | T | TGAGTAGC others(667): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 HG03486.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0017 | a0001c0001t0013g0006a0001c0001t0013g0007a0001c0001t0017g0005 | 3 | 346 | 0.0087 | 674 | c.-12 others(685): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1115 | chr14 | TogoVar | ||||||
GET4_chr7_871554_901436 | 890279 | T | TGAGCGGG others(667): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0162 | 1 | 384 | 0.0026 | 674 | c.467 others(689): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GET4_chr7_871554_901436 | 890279 | T | TGAGCGGG others(667): Show |
intron_variant | MODIFIER | NA18953.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0157 | 1 | 384 | 0.0026 | 674 | c.467 others(689): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GET4_chr7_871554_901436 | 890279 | T | TGAGCGGG others(667): Show |
intron_variant | MODIFIER | NA18947.hp2 NA18982.hp1 NA19005.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0144a0001c0002t0002g0151a0001c0002t0002g0152others(1): Show | 4 | 384 | 0.0104 | 674 | c.467 others(689): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GNG13_chr16_793041_805734 | 795593 | T | TGCTGCCC others(667): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 HG02280.hp2 HG02615.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004a0001c0001t0001g0036a0001c0001t0001g0038others(1): Show | 7 | 422 | 0.0166 | 674 | c.*31 others(685): Show |
GNG13 | ENSG00000127588.5 | transcript | ENST00000248150.5 | protein_coding | 2447 | chr16 | TogoVar | ||||||
GNG13_chr16_793041_805734 | 795593 | T | TGCTGCCC others(667): Show |
downstream_gene_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 422 | 0.0024 | 674 | c.*31 others(685): Show |
GNG13 | ENSG00000127588.5 | transcript | ENST00000248150.5 | protein_coding | 2447 | chr16 | TogoVar | ||||||
GNG13_chr16_793041_805734 | 795593 | T | TGCTGCCC others(667): Show |
downstream_gene_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 422 | 0.0024 | 674 | c.*31 others(685): Show |
GNG13 | ENSG00000127588.5 | transcript | ENST00000248150.5 | protein_coding | 2447 | chr16 | TogoVar | ||||||
GNG13_chr16_793041_805734 | 795593 | T | TGCTGCCC others(667): Show |
downstream_gene_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 422 | 0.0024 | 674 | c.*31 others(685): Show |
GNG13 | ENSG00000127588.5 | transcript | ENST00000248150.5 | protein_coding | 2447 | chr16 | TogoVar | ||||||
GNG13_chr16_793041_805734 | 795593 | T | TGCTGCCC others(667): Show |
downstream_gene_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 422 | 0.0024 | 674 | c.*31 others(685): Show |
GNG13 | ENSG00000127588.5 | transcript | ENST00000248150.5 | protein_coding | 2447 | chr16 | TogoVar | ||||||
GNG13_chr16_793041_805734 | 795593 | T | TGCTGCCC others(667): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 422 | 0.0024 | 674 | c.*31 others(685): Show |
GNG13 | ENSG00000127588.5 | transcript | ENST00000248150.5 | protein_coding | 2447 | chr16 | TogoVar | ||||||
GNG13_chr16_793041_805734 | 795593 | T | TGCTGCCC others(667): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 422 | 0.0024 | 674 | c.*31 others(685): Show |
GNG13 | ENSG00000127588.5 | transcript | ENST00000248150.5 | protein_coding | 2447 | chr16 | TogoVar | ||||||
GNG13_chr16_793041_805734 | 795593 | T | TGCTGCCC others(667): Show |
downstream_gene_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 422 | 0.0024 | 674 | c.*31 others(685): Show |
GNG13 | ENSG00000127588.5 | transcript | ENST00000248150.5 | protein_coding | 2447 | chr16 | TogoVar | ||||||
GNG13_chr16_793041_805734 | 795593 | T | TGCTGCCC others(667): Show |
downstream_gene_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 422 | 0.0024 | 674 | c.*31 others(685): Show |
GNG13 | ENSG00000127588.5 | transcript | ENST00000248150.5 | protein_coding | 2447 | chr16 | TogoVar | ||||||
GNG13_chr16_793041_805734 | 795593 | T | TGCTGCCC others(667): Show |
downstream_gene_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 422 | 0.0024 | 674 | c.*31 others(685): Show |
GNG13 | ENSG00000127588.5 | transcript | ENST00000248150.5 | protein_coding | 2447 | chr16 | TogoVar | ||||||
GNG13_chr16_793041_805734 | 795593 | T | TGCTGCCC others(667): Show |
downstream_gene_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 422 | 0.0024 | 674 | c.*31 others(685): Show |
GNG13 | ENSG00000127588.5 | transcript | ENST00000248150.5 | protein_coding | 2447 | chr16 | TogoVar | ||||||
GPR173_chrX_53043789_53085615 | 53073906 | T | TATATAAA others(667): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 | 1 | 208 | 0.0048 | 674 | c.-97 others(691): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GPR173_chrX_53043789_53085615 | 53073906 | T | TATATAAA others(667): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0049 | 1 | 208 | 0.0048 | 674 | c.-97 others(691): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GPR173_chrX_53043789_53085615 | 53073906 | T | TATATAAA others(667): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0080 | 1 | 208 | 0.0048 | 674 | c.-97 others(691): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GRK4_chr4_2958571_3045760 | 2961219 | T | TAGTAACT others(667): Show |
upstream_gene_variant | MODIFIER | HG02165.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0188 | 1 | 268 | 0.0037 | 674 | c.-28 others(685): Show |
GRK4 | ENSG00000125388.20 | transcript | ENST00000398052.9 | protein_coding | 2351 | chr4 | TogoVar | ||||||
GRK4_chr4_2958571_3045760 | 2961219 | T | TAGTAACT others(667): Show |
upstream_gene_variant | MODIFIER | HG03225.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0246 | 1 | 268 | 0.0037 | 674 | c.-28 others(685): Show |
GRK4 | ENSG00000125388.20 | transcript | ENST00000398052.9 | protein_coding | 2351 | chr4 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(667): Show |
upstream_gene_variant | MODIFIER | HG00609.hp2 | a0002 | a0002c0002 | a0002c0002t0026 | a0002c0002t0026g0210 | 1 | 323 | 0.0031 | 674 | c.-36 others(685): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | ||||||
ISOC2_chr19_55447985_55466642 | 55449121 | G | GACCACAC others(667): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(172): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0007a0001c0001t0001g0024a0001c0001t0001g0026others(63): Show | 175 | 380 | 0.4605 | 674 | c.*41 others(685): Show |
ISOC2 | ENSG00000063241.8 | transcript | ENST00000425675.7 | protein_coding | 3863 | chr19 | TogoVar | ||||||
ISOC2_chr19_55447985_55466642 | 55449121 | G | GACCACAC others(667): Show |
downstream_gene_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 380 | 0.0026 | 674 | c.*41 others(685): Show |
ISOC2 | ENSG00000063241.8 | transcript | ENST00000425675.7 | protein_coding | 3863 | chr19 | TogoVar | ||||||
ISOC2_chr19_55447985_55466642 | 55449121 | G | GACCACAC others(667): Show |
downstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 380 | 0.0026 | 674 | c.*41 others(685): Show |
ISOC2 | ENSG00000063241.8 | transcript | ENST00000425675.7 | protein_coding | 3863 | chr19 | TogoVar | ||||||
KIAA0232_chr4_6777727_6889164 | 6879936 | C | CAGGTCTG others(667): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 362 | 0.0028 | 674 | c.400 others(691): Show |
KIAA0232 | ENSG00000170871.12 | transcript | ENST00000307659.6 | protein_coding | 9/9 | chr4 | TogoVar | ||||||
KLHL15_chrX_23978720_24032186 | 23982660 | C | CAAAAAAA others(667): Show |
downstream_gene_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 286 | 0.0035 | 674 | c.*52 others(685): Show |
KLHL15 | ENSG00000174010.10 | transcript | ENST00000328046.8 | protein_coding | 1059 | chrX | TogoVar | ||||||
KLHL15_chrX_23978720_24032186 | 23982660 | C | CAAAAAAA others(667): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 HG01081.hp1 HG01981.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0046a0001c0001t0001g0047a0001c0001t0001g0124others(3): Show | 6 | 286 | 0.0210 | 674 | c.*52 others(685): Show |
KLHL15 | ENSG00000174010.10 | transcript | ENST00000328046.8 | protein_coding | 1059 | chrX | TogoVar |