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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FSHR_chr2_48957157_49159515 | 49089093 | C | CTAATATA others(28): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 350 | 0.0029 | 35 | c.153 others(54): Show |
FSHR | ENSG00000170820.12 | transcript | ENST00000406846.7 | protein_coding | 1/9 | chr2 | TogoVar | ||||||
FSTL1_chr3_120387293_120455992 | 120413800 | C | CCTCCCTC others(28): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0056a0001c0001t0005g0001a0001c0001t0005g0011others(18): Show | 25 | 332 | 0.0753 | 35 | c.169 others(52): Show |
FSTL1 | ENSG00000163430.13 | transcript | ENST00000295633.8 | protein_coding | 3/10 | chr3 | TogoVar | ||||||
FSTL4_chr5_133191455_133617541 | 133375312 | A | ATATATAT others(28): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0103 | 1 | 176 | 0.0057 | 35 | c.409 others(54): Show |
FSTL4 | ENSG00000053108.18 | transcript | ENST00000265342.12 | protein_coding | 4/15 | chr5 | TogoVar | ||||||
FSTL4_chr5_133191455_133617541 | 133517447 | A | AAAAAAAA others(28): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 176 | 0.0057 | 35 | c.160 others(54): Show |
FSTL4 | ENSG00000053108.18 | transcript | ENST00000265342.12 | protein_coding | 3/15 | chr5 | TogoVar | ||||||
FSTL4_chr5_133191455_133617541 | 133517447 | A | AAAAAAAA others(28): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0009 | a0009c0015 | a0009c0015t0019 | a0009c0015t0019g0012 | 1 | 176 | 0.0057 | 35 | c.160 others(54): Show |
FSTL4 | ENSG00000053108.18 | transcript | ENST00000265342.12 | protein_coding | 3/15 | chr5 | TogoVar | ||||||
FSTL4_chr5_133191455_133617541 | 133517447 | A | AAAAAAAA others(28): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0066 | 1 | 176 | 0.0057 | 35 | c.160 others(54): Show |
FSTL4 | ENSG00000053108.18 | transcript | ENST00000265342.12 | protein_coding | 3/15 | chr5 | TogoVar | ||||||
FSTL4_chr5_133191455_133617541 | 133517447 | A | AAAAAAAT others(28): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 176 | 0.0057 | 35 | c.160 others(54): Show |
FSTL4 | ENSG00000053108.18 | transcript | ENST00000265342.12 | protein_coding | 3/15 | chr5 | TogoVar | ||||||
FSTL5_chr4_161378897_162169000 | 161437565 | C | CAAAAAAA others(28): Show |
intron_variant | MODIFIER | HG02486.hp1 NA19002.hp2 NA19065.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0008a0001c0003t0007 | a0001c0002t0008g0106a0001c0002t0008g0120a0001c0003t0007g0053 | 3 | 142 | 0.0211 | 35 | c.184 others(56): Show |
FSTL5 | ENSG00000168843.14 | transcript | ENST00000306100.10 | protein_coding | 15/15 | chr4 | TogoVar | ||||||
FSTL5_chr4_161378897_162169000 | 161599553 | T | TAAAACCA others(28): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0101 | 1 | 142 | 0.0070 | 35 | c.895 others(54): Show |
FSTL5 | ENSG00000168843.14 | transcript | ENST00000306100.10 | protein_coding | 7/15 | chr4 | TogoVar | ||||||
FTO_chr16_53699156_54126941 | 53990655 | T | TTTTTATT others(28): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02809.hp1 HG02895.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0006a0001c0001t0026a0001c0001t0028others(3): Show | a0001c0001t0006g0012a0001c0001t0006g0056a0001c0001t0026g0053others(4): Show | 7 | 194 | 0.0361 | 35 | c.136 others(56): Show |
FTO | ENSG00000140718.22 | transcript | ENST00000471389.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
FUBP3_chr9_130574577_130643352 | 130589705 | A | ATATATAT others(28): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 378 | 0.0027 | 35 | c.85- others(50): Show |
FUBP3 | ENSG00000107164.17 | transcript | ENST00000319725.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
FUCA1_chr1_23840077_23873290 | 23871580 | A | AGATGCTC others(28): Show |
upstream_gene_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 380 | 0.0026 | 35 | c.-32 others(46): Show |
FUCA1 | ENSG00000179163.12 | transcript | ENST00000374479.4 | protein_coding | 3291 | chr1 | TogoVar | ||||||
FUT10_chr8_33365824_33478146 | 33379980 | C | CTATATAT others(28): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 268 | 0.0037 | 35 | c.121 others(54): Show |
FUT10 | ENSG00000172728.16 | transcript | ENST00000327671.10 | protein_coding | 4/4 | chr8 | TogoVar | ||||||
FUT1_chr19_48743011_48757641 | 48755146 | C | CCCCAGCC others(28): Show |
upstream_gene_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0004 | 1 | 438 | 0.0023 | 35 | c.-26 others(46): Show |
FUT1 | ENSG00000174951.12 | transcript | ENST00000645652.2 | protein_coding | 2506 | chr19 | TogoVar | ||||||
FUT1_chr19_48743011_48757641 | 48755146 | C | CCCCAGCC others(28): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(281): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(23): Show | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0015others(48): Show | 284 | 438 | 0.6484 | 35 | c.-26 others(46): Show |
FUT1 | ENSG00000174951.12 | transcript | ENST00000645652.2 | protein_coding | 2506 | chr19 | TogoVar | ||||||
FUT1_chr19_48743011_48757641 | 48755166 | G | GATCCAGG others(28): Show |
upstream_gene_variant | MODIFIER | HG02486.hp1 HG02622.hp1 HG02976.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0022 | a0001c0001t0011g0020a0001c0001t0011g0062a0001c0001t0022g0086 | 6 | 438 | 0.0137 | 35 | c.-26 others(46): Show |
FUT1 | ENSG00000174951.12 | transcript | ENST00000645652.2 | protein_coding | 2526 | chr19 | TogoVar | ||||||
FUT1_chr19_48743011_48757641 | 48756591 | A | ATCTGGGC others(28): Show |
upstream_gene_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 438 | 0.0023 | 35 | c.-41 others(46): Show |
FUT1 | ENSG00000174951.12 | transcript | ENST00000645652.2 | protein_coding | 3951 | chr19 | TogoVar | ||||||
FUT9_chr6_96010974_96220612 | 96110815 | C | CTATTTTT others(28): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02615.hp2 HG03942.hp2 |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0056 | a0001c0001t0023g0170a0001c0001t0023g0235a0001c0001t0056g0209 | 3 | 320 | 0.0094 | 35 | c.-97 others(52): Show |
FUT9 | ENSG00000172461.11 | transcript | ENST00000302103.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
FXYD5_chr19_35149735_35174881 | 35161221 | A | ACACACAC others(28): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0278 | 1 | 462 | 0.0022 | 35 | c.292 others(50): Show |
FXYD5 | ENSG00000089327.15 | transcript | ENST00000392219.7 | protein_coding | 5/8 | chr19 | TogoVar | ||||||
FZD3_chr8_28489212_28579258 | 28556696 | A | ATATATTT others(28): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00558.hp1 others(13): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0014a0001c0002t0033others(1): Show | a0001c0002t0004g0004a0001c0002t0004g0131a0001c0002t0004g0133others(12): Show | 16 | 328 | 0.0488 | 35 | c.178 others(52): Show |
FZD3 | ENSG00000104290.11 | transcript | ENST00000240093.8 | protein_coding | 7/7 | chr8 | TogoVar | ||||||
GAA_chr17_80096581_80124881 | 80120359 | C | CCTCCCCT others(28): Show |
downstream_gene_variant | MODIFIER | NA18998.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0001 | 1 | 416 | 0.0024 | 35 | c.*10 others(46): Show |
GAA | ENSG00000171298.14 | transcript | ENST00000302262.8 | protein_coding | 479 | chr17 | TogoVar | ||||||
GAB2_chr11_78210293_78422820 | 78267857 | C | CAAAAAAA others(28): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0104 | 1 | 288 | 0.0035 | 35 | c.376 others(54): Show |
GAB2 | ENSG00000033327.13 | transcript | ENST00000361507.5 | protein_coding | 2/9 | chr11 | TogoVar | ||||||
GABBR2_chr9_98283109_98713935 | 98447063 | C | CTTTTTTT others(28): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0108 | 1 | 164 | 0.0061 | 35 | c.123 others(54): Show |
GABBR2 | ENSG00000136928.7 | transcript | ENST00000259455.4 | protein_coding | 7/18 | chr9 | TogoVar | ||||||
GABRA5_chr15_26862062_26954208 | 26866769 | A | AGGACCCA others(28): Show |
upstream_gene_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0237 | 1 | 376 | 0.0027 | 35 | c.-48 others(44): Show |
GABRA5 | ENSG00000186297.12 | transcript | ENST00000335625.10 | protein_coding | 292 | chr15 | TogoVar | ||||||
GABRB1_chr4_47026567_47431447 | 47125559 | C | CTTTTTTT others(28): Show |
intron_variant | MODIFIER | HG01175.hp1 HG03654.hp1 |
a0001a0003 | a0001c0001a0003c0012 | a0001c0001t0002a0003c0012t0001 | a0001c0001t0002g0107a0003c0012t0001g0108 | 2 | 158 | 0.0127 | 35 | c.241 others(54): Show |
GABRB1 | ENSG00000163288.14 | transcript | ENST00000295454.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GABRG1_chr4_46030769_46129054 | 46105782 | G | GTAGGTAG others(28): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00741.hp2 NA18942.hp2 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0028a0001c0004t0024 | a0001c0001t0001g0130a0001c0001t0001g0131a0001c0001t0001g0151others(5): Show | 8 | 308 | 0.0260 | 35 | c.105 others(52): Show |
GABRG1 | ENSG00000163285.8 | transcript | ENST00000295452.5 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
GABRG3_chr15_26966181_27546984 | 27145603 | C | CTCTATCT others(28): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0046 | 1 | 92 | 0.0109 | 35 | c.270 others(56): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GABRG3_chr15_26966181_27546984 | 27305620 | T | TATATATA others(28): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00738.hp2 HG02258.hp2 others(2): Show |
a0001 | a0001c0001a0001c0006a0001c0018 | a0001c0001t0001a0001c0001t0012a0001c0006t0003others(1): Show | a0001c0001t0001g0035a0001c0001t0001g0087a0001c0001t0012g0025others(2): Show | 5 | 92 | 0.0544 | 35 | c.271 others(54): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GAL3ST2_chr2_241771822_241809287 | 241797582 | G | GGGCAGAG others(28): Show |
intron_variant | MODIFIER | HG02615.hp1 HG03130.hp1 HG03225.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065a0001c0001t0001g0069a0001c0001t0001g0070others(1): Show | 4 | 314 | 0.0127 | 35 | c.30- others(50): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GAL3ST2_chr2_241771822_241809287 | 241805963 | T | TCCGCAGG others(28): Show |
downstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 314 | 0.0032 | 35 | c.*17 others(46): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1677 | chr2 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241806446 | C | CGCAGGCC others(28): Show |
downstream_gene_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 314 | 0.0032 | 35 | c.*22 others(46): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 2160 | chr2 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241807257 | T | TCCCTCCC others(28): Show |
downstream_gene_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 314 | 0.0032 | 35 | c.*30 others(46): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 2971 | chr2 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241807269 | C | CAACCCAG others(28): Show |
downstream_gene_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 314 | 0.0032 | 35 | c.*31 others(46): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 2983 | chr2 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241807607 | T | TCCCTCCC others(28): Show |
downstream_gene_variant | MODIFIER | HG02273.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0007 | 1 | 314 | 0.0032 | 35 | c.*34 others(46): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3321 | chr2 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241807610 | C | CTCCCCCC others(28): Show |
downstream_gene_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 314 | 0.0032 | 35 | c.*34 others(46): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3324 | chr2 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241807650 | T | TCCCTCCC others(28): Show |
downstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 314 | 0.0032 | 35 | c.*34 others(46): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3364 | chr2 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241807650 | T | TCCCTCCC others(28): Show |
downstream_gene_variant | MODIFIER | NA18612.hp2 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0134 | 1 | 314 | 0.0032 | 35 | c.*34 others(46): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3364 | chr2 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241807650 | T | TCCCTCCC others(28): Show |
downstream_gene_variant | MODIFIER | HG02258.hp2 HG02683.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0121a0002c0002t0001g0158 | 2 | 314 | 0.0064 | 35 | c.*34 others(46): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3364 | chr2 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241807650 | T | TCCCTCCC others(28): Show |
downstream_gene_variant | MODIFIER | NA18950.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0244 | 1 | 314 | 0.0032 | 35 | c.*34 others(46): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3364 | chr2 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241807653 | C | CTCCCCCC others(28): Show |
downstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 314 | 0.0032 | 35 | c.*34 others(46): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3367 | chr2 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241807822 | C | CAGCCCAG others(28): Show |
downstream_gene_variant | MODIFIER | NA19010.hp2 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0096 | 1 | 314 | 0.0032 | 35 | c.*36 others(46): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3536 | chr2 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241807888 | T | TCCCTCCC others(28): Show |
downstream_gene_variant | MODIFIER | HG02602.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0036 | 1 | 314 | 0.0032 | 35 | c.*37 others(46): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3602 | chr2 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241807931 | T | TCCCTCCC others(28): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 HG02647.hp2 HG02896.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0002 | a0001c0001t0001g0132a0001c0001t0001g0211a0001c0001t0002g0169others(1): Show | 4 | 314 | 0.0127 | 35 | c.*37 others(46): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3645 | chr2 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241807931 | T | TCCCTCCC others(28): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 314 | 0.0032 | 35 | c.*37 others(46): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3645 | chr2 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241807931 | T | TCCCTCCC others(28): Show |
downstream_gene_variant | MODIFIER | HG04184.hp1 NA20300.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0029a0002c0002t0001g0149 | 2 | 314 | 0.0064 | 35 | c.*37 others(46): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3645 | chr2 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241807931 | T | TCCCTCCC others(28): Show |
downstream_gene_variant | MODIFIER | HG02559.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0053 | 1 | 314 | 0.0032 | 35 | c.*37 others(46): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3645 | chr2 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241807932 | C | CCCTCCCT others(28): Show |
downstream_gene_variant | MODIFIER | NA18982.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0038 | 1 | 314 | 0.0032 | 35 | c.*37 others(46): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3646 | chr2 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241807933 | C | CCTCCCCC others(28): Show |
downstream_gene_variant | MODIFIER | HG01106.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0004 | 1 | 314 | 0.0032 | 35 | c.*37 others(46): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3647 | chr2 | TogoVar | ||||||
GALK2_chr15_49165247_49336882 | 49228687 | A | ATATATAT others(28): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01168.hp2 HG01169.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001a0001c0001t0002g0096a0001c0001t0002g0102others(1): Show | 5 | 348 | 0.0144 | 35 | c.267 others(52): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GALNS_chr16_88808734_88861947 | 88834643 | C | CCCGCGTG others(28): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00438.hp1 others(52): Show |
a0001a0008 | a0001c0002a0001c0004a0001c0018others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0008others(4): Show | a0001c0002t0001g0030a0001c0002t0001g0070a0001c0002t0002g0029others(52): Show | 55 | 404 | 0.1361 | 35 | c.898 others(50): Show |
GALNS | ENSG00000141012.13 | transcript | ENST00000268695.10 | protein_coding | 8/13 | chr16 | TogoVar |