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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GATAD2B_chr1_153799725_153927972 | 153882753 | C | CATTCTAT others(12): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0015 | 1 | 348 | 0.0029 | 19 | c.-2+ others(36): Show |
GATAD2B | ENSG00000143614.11 | transcript | ENST00000368655.5 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
GATB_chr4_151665504_151766007 | 151758948 | G | GATGTATT others(12): Show |
intron_variant | MODIFIER | HG01928.hp1 NA19011.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0285 a0001c0001t0002g0286 |
2 | 318 | 0.0063 | 19 | c.177 others(32): Show |
GATB | ENSG00000059691.12 | transcript | ENST00000263985.11 | protein_coding | 1/12 | chr4 | TogoVar | |||||||
GATC_chr12_120441444_120468749 | 120451875 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02965.hp2 HG03225.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0017 | 3 | 321 | 0.0093 | 19 | c.254 others(36): Show |
GATC | ENSG00000257218.6 | transcript | ENST00000551765.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
GATD1_chr11_762222_782487 | 775243 | G | GCTGAGGA others(12): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 428 | 0.0023 | 19 | c.65- others(32): Show |
GATD1 | ENSG00000177225.17 | transcript | ENST00000319863.13 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
GBE1_chr3_81484703_81766645 | 81737427 | A | ATTTATAT others(12): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0128 | 1 | 302 | 0.0033 | 19 | c.143 others(38): Show |
GBE1 | ENSG00000114480.13 | transcript | ENST00000429644.7 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
GBP3_chr1_89001680_89027866 | 89021544 | A | ACACACAC others(12): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0095 | 1 | 241 | 0.0041 | 19 | c.-22 others(34): Show |
GBP3 | ENSG00000117226.12 | transcript | ENST00000370481.9 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
GCC2_chr2_108444206_108514415 | 108459745 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0127 | 1 | 28 | 0.0357 | 19 | c.216 others(36): Show |
GCC2 | ENSG00000135968.22 | transcript | ENST00000309863.11 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GCC2_chr2_108444206_108514415 | 108509733 | A | ATTTTTTT others(12): Show |
downstream_gene_variant | MODIFIER | HG02818.hp2 NA18994.hp1 NA19056.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0016 | a0001c0001t0005g0141 a0001c0001t0016g0114 a0001c0001t0016g0122 |
3 | 38 | 0.0789 | 19 | c.*21 others(30): Show |
GCC2 | ENSG00000135968.22 | transcript | ENST00000309863.11 | protein_coding | 319 | chr2 | TogoVar | |||||||
GCFC2_chr2_75657705_75715915 | 75707742 | T | TAACATGT others(12): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00438.hp1 others(54): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003a0002c0002t0014others(3): Show | a0002c0002t0002g0003 a0002c0002t0002g0007 a0002c0002t0002g0032 others(39): Show |
57 | 402 | 0.1418 | 19 | c.266 others(36): Show |
GCFC2 | ENSG00000005436.14 | transcript | ENST00000321027.8 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
GCH1_chr14_54837017_54907826 | 54855505 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00639.hp2 HG03453.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0013 | a0001c0001t0001g0074 a0001c0001t0004g0031 a0001c0001t0013g0008 |
3 | 161 | 0.0186 | 19 | c.509 others(36): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | TogoVar | |||||||
GCHFR_chr15_40759068_40772708 | 40771062 | T | TCCAGAGG others(12): Show |
downstream_gene_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 414 | 0.0024 | 19 | c.*37 others(30): Show |
GCHFR | ENSG00000137880.6 | transcript | ENST00000260447.6 | protein_coding | 3355 | chr15 | TogoVar | |||||||
GCM1_chr6_53121961_53153841 | 53128028 | C | CAAAAAAA others(12): Show |
3_prime_UTR_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0037 | 1 | 42 | 0.0238 | 19 | c.*15 others(28): Show |
GCM1 | ENSG00000137270.11 | transcript | ENST00000259803.8 | protein_coding | 6/6 | 177 | chr6 | TogoVar | ||||||
GCM2_chr6_10868223_10887041 | 10883180 | C | CTTTTTTT others(12): Show |
upstream_gene_variant | MODIFIER | HG02698.hp1 HG04228.hp2 NA18963.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0001 a0001c0001t0001g0027 a0001c0001t0009g0045 |
4 | 57 | 0.0702 | 19 | c.-13 others(30): Show |
GCM2 | ENSG00000124827.7 | transcript | ENST00000379491.5 | protein_coding | 1140 | chr6 | TogoVar | |||||||
GCNT2_chr6_10516351_10634368 | 10534139 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0011 | 1 | 158 | 0.0063 | 19 | c.925 others(36): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GCNT2_chr6_10516351_10634368 | 10538435 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 261 | 0.0038 | 19 | c.925 others(36): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | chr6 | TogoVar | |||||||
GCNT2_chr6_10516351_10634368 | 10538437 | A | AAAAATAT others(12): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0170 | 1 | 155 | 0.0065 | 19 | c.925 others(36): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GCNT2_chr6_10516351_10634368 | 10556581 | A | ATGGAAAA others(12): Show |
intron_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 322 | 0.0031 | 19 | c.925 others(38): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GCNT2_chr6_10550809_10634368 | 10556581 | A | ATGGAAAA others(12): Show |
frameshift_variant | HIGH | NA19080.hp1 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0082 | 1 | 342 | 0.0029 | 19 | c.169 others(26): Show |
p.Lys others(4): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000316170.9 | protein_coding | 1/3 | 803/4579 | 188/1203 | 63/400 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
GCNT3_chr15_59606783_59627723 | 59610998 | C | CCCCCTCC others(12): Show |
upstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 388 | 0.0026 | 19 | c.-12 others(30): Show |
GCNT3 | ENSG00000140297.13 | transcript | ENST00000396065.3 | protein_coding | 784 | chr15 | TogoVar | |||||||
GCNT4_chr5_75020346_75057558 | 75045976 | G | GGATGTTC others(12): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0074 | 1 | 380 | 0.0026 | 19 | c.-2+ others(34): Show |
GCNT4 | ENSG00000176928.7 | transcript | ENST00000652361.2 | protein_coding | 3/3 | chr5 | TogoVar | |||||||
GCSH_chr16_81076945_81101395 | 81080667 | A | ATTTTTTT others(12): Show |
downstream_gene_variant | MODIFIER | HG02523.hp2 NA18948.hp2 NA18965.hp2 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0039 a0003c0003t0004g0147 a0003c0003t0004g0149 |
4 | 275 | 0.0145 | 19 | c.*21 others(30): Show |
GCSH | ENSG00000140905.11 | transcript | ENST00000315467.9 | protein_coding | 1277 | chr16 | TogoVar | |||||||
GDE1_chr16_19496693_19527098 | 19499237 | T | TGAACAGC others(12): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(191): Show |
a0001a0003a0004 | a0001c0001a0003c0004a0004c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(12): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(123): Show |
194 | 396 | 0.4899 | 19 | c.*42 others(30): Show |
GDE1 | ENSG00000006007.12 | transcript | ENST00000353258.8 | protein_coding | 2455 | chr16 | TogoVar | |||||||
GDF15_chr19_18381158_18394176 | 18387813 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | NA19012.hp1 NA19012.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0027 | 2 | 87 | 0.0230 | 19 | c.278 others(34): Show |
GDF15 | ENSG00000130513.7 | transcript | ENST00000252809.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GDI1_chrX_154432154_154448467 | 154448072 | C | CTTTTTTT others(12): Show |
downstream_gene_variant | MODIFIER | HG01346.hp1 HG01952.hp1 HG01978.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0041 others(1): Show |
13 | 193 | 0.0674 | 19 | c.*54 others(30): Show |
GDI1 | ENSG00000203879.12 | transcript | ENST00000447750.7 | protein_coding | 4606 | chrX | TogoVar | |||||||
GDI2_chr10_5760223_5818434 | 5806359 | A | AAGCCCAA others(12): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(377): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(340): Show |
380 | 396 | 0.9596 | 19 | c.46- others(34): Show |
GDI2 | ENSG00000057608.17 | transcript | ENST00000380191.9 | protein_coding | 1/10 | chr10 | TogoVar | |||||||
GDPD1_chr17_59215511_59280970 | 59222505 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00673.hp1 HG02074.hp2 HG04199.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0097 a0001c0001t0001g0113 a0001c0001t0001g0117 others(6): Show |
9 | 75 | 0.1200 | 19 | c.142 others(36): Show |
GDPD1 | ENSG00000153982.11 | transcript | ENST00000284116.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GDPD1_chr17_59215511_59280970 | 59255758 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0077 | 1 | 293 | 0.0034 | 19 | c.368 others(36): Show |
GDPD1 | ENSG00000153982.11 | transcript | ENST00000284116.9 | protein_coding | 4/9 | chr17 | TogoVar | |||||||
GDPD1_chr17_59215511_59280970 | 59261913 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0164 | 1 | 108 | 0.0093 | 19 | c.576 others(36): Show |
GDPD1 | ENSG00000153982.11 | transcript | ENST00000284116.9 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GDPD3_chr16_30099810_30118537 | 30110860 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01515.hp1 HG01517.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0033 a0001c0001t0001g0074 others(2): Show |
8 | 86 | 0.0930 | 19 | c.707 others(34): Show |
GDPD3 | ENSG00000102886.15 | transcript | ENST00000406256.8 | protein_coding | 7/9 | chr16 | TogoVar | |||||||
GDPGP1_chr15_90229209_90250811 | 90231150 | C | CCCGTGAG others(12): Show |
upstream_gene_variant | MODIFIER | HG03710.hp1 | a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0007 | 1 | 436 | 0.0023 | 19 | c.-32 others(30): Show |
GDPGP1 | ENSG00000183208.13 | transcript | ENST00000329600.8 | protein_coding | 3058 | chr15 | TogoVar | |||||||
GEMIN2_chr14_39109323_39141973 | 39123708 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02723.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 a0001c0001t0001g0145 |
2 | 274 | 0.0073 | 19 | c.486 others(36): Show |
GEMIN2 | ENSG00000092208.19 | transcript | ENST00000308317.12 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GEMIN2_chr14_39109323_39141973 | 39123709 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 410 | 0.0024 | 19 | c.486 others(36): Show |
GEMIN2 | ENSG00000092208.19 | transcript | ENST00000308317.12 | protein_coding | 5/9 | chr14 | TogoVar | |||||||
GET4_chr7_871554_901436 | 876841 | C | CCGCCGCC others(12): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0047 | 1 | 382 | 0.0026 | 19 | c.155 others(32): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GFPT2_chr5_180295698_180358336 | 180297458 | A | AAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0266 | 1 | 199 | 0.0050 | 19 | c.*41 others(30): Show |
GFPT2 | ENSG00000131459.13 | transcript | ENST00000253778.13 | protein_coding | 3239 | chr5 | TogoVar | |||||||
GFRA1_chr10_116051925_116278206 | 116080039 | C | CCATAACC others(12): Show |
intron_variant | MODIFIER | NA18993.hp1 | a0002 | a0002c0003 | a0002c0003t0108 | a0002c0003t0108g0069 | 1 | 212 | 0.0047 | 19 | c.119 others(38): Show |
GFRA1 | ENSG00000151892.16 | transcript | ENST00000355422.11 | protein_coding | 9/10 | chr10 | TogoVar | |||||||
GFRA1_chr10_116051925_116278206 | 116145148 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0148 | 1 | 51 | 0.0196 | 19 | c.434 others(38): Show |
GFRA1 | ENSG00000151892.16 | transcript | ENST00000355422.11 | protein_coding | 5/10 | chr10 | TogoVar | |||||||
GFRA3_chr5_138247380_138279621 | 138271909 | T | TGTGTGTG others(12): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 278 | 0.0036 | 19 | c.91+ others(34): Show |
GFRA3 | ENSG00000146013.11 | transcript | ENST00000274721.8 | protein_coding | 1/7 | chr5 | TogoVar | |||||||
GGA3_chr17_75231599_75266606 | 75248468 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02135.hp2 NA18980.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0148 a0001c0001t0002g0064 |
2 | 18 | 0.1111 | 19 | c.41- others(34): Show |
GGA3 | ENSG00000125447.18 | transcript | ENST00000537686.6 | protein_coding | 1/16 | chr17 | TogoVar | |||||||
GGNBP2_chr17_36539919_36594848 | 36548615 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01516.hp2 NA18975.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0002t0003g0042 |
3 | 40 | 0.0750 | 19 | c.93+ others(34): Show |
GGNBP2 | ENSG00000278311.5 | transcript | ENST00000613102.5 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GGT1_chr22_24598193_24633996 | 24605580 | A | ATATAATA others(12): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0053 | 1 | 419 | 0.0024 | 19 | c.-42 others(38): Show |
GGT1 | ENSG00000100031.19 | transcript | ENST00000400382.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
GGTA1_chr9_121450040_121504844 | 121480061 | C | CTTTTCTT others(12): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01175.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0267 a0001c0001t0002g0265 |
2 | 250 | 0.0080 | 19 | c.-9- others(36): Show |
GGTA1 | ENSG00000204136.12 | transcript | ENST00000481799.6 | protein_coding | 1/5 | chr9 | TogoVar | |||||||
GGTA1_chr9_121450040_121504844 | 121496757 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0271 a0002c0002t0002g0272 |
2 | 271 | 0.0074 | 19 | c.-10 others(36): Show |
GGTA1 | ENSG00000204136.12 | transcript | ENST00000481799.6 | protein_coding | 1/5 | chr9 | TogoVar | |||||||
GGTA1_chr9_121450040_121504844 | 121496757 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01243.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0247 a0001c0001t0002g0265 |
2 | 271 | 0.0074 | 19 | c.-10 others(36): Show |
GGTA1 | ENSG00000204136.12 | transcript | ENST00000481799.6 | protein_coding | 1/5 | chr9 | TogoVar | |||||||
GINM1_chr6_149561375_149596748 | 149562316 | A | ATATATAT others(12): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0007 | 1 | 219 | 0.0046 | 19 | c.-40 others(30): Show |
GINM1 | ENSG00000055211.14 | transcript | ENST00000367419.10 | protein_coding | 4058 | chr6 | TogoVar | |||||||
GINM1_chr6_149561375_149596748 | 149565428 | T | TTTTCATG others(12): Show |
upstream_gene_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0124 | 1 | 378 | 0.0026 | 19 | c.-98 others(28): Show |
GINM1 | ENSG00000055211.14 | transcript | ENST00000367419.10 | protein_coding | 946 | chr6 | TogoVar | |||||||
GINS2_chr16_85671198_85693954 | 85671439 | C | CAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 HG01891.hp2 HG02572.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0018 | a0001c0003t0018g0080 a0001c0003t0018g0081 a0001c0003t0018g0083 others(1): Show |
4 | 108 | 0.0370 | 19 | c.*67 others(30): Show |
GINS2 | ENSG00000131153.9 | transcript | ENST00000253462.8 | protein_coding | 4758 | chr16 | TogoVar | |||||||
GINS2_chr16_85671198_85693954 | 85685670 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01081.hp1 HG02004.hp1 HG02896.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0001t0010a0001c0003t0013 | a0001c0001t0004g0015 a0001c0001t0004g0252 a0001c0001t0010g0179 others(1): Show |
7 | 169 | 0.0414 | 19 | c.205 others(36): Show |
GINS2 | ENSG00000131153.9 | transcript | ENST00000253462.8 | protein_coding | 2/4 | chr16 | TogoVar | |||||||
GINS2_chr16_85671198_85693954 | 85685679 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0003 | a0001c0003t0018 | a0001c0003t0018g0080 | 1 | 464 | 0.0022 | 19 | c.205 others(36): Show |
GINS2 | ENSG00000131153.9 | transcript | ENST00000253462.8 | protein_coding | 2/4 | chr16 | TogoVar | |||||||
GINS2_chr16_85671198_85693954 | 85685679 | A | AAACAAAA others(12): Show |
intron_variant | MODIFIER | HG00639.hp2 NA19030.hp2 |
a0001 | a0001c0003 | a0001c0003t0018 | a0001c0003t0018g0083 a0001c0003t0018g0084 |
2 | 465 | 0.0043 | 19 | c.205 others(36): Show |
GINS2 | ENSG00000131153.9 | transcript | ENST00000253462.8 | protein_coding | 2/4 | chr16 | TogoVar | |||||||
GINS4_chr8_41524261_41550030 | 41546849 | A | ATTTTTTT others(12): Show |
downstream_gene_variant | MODIFIER | HG01081.hp2 HG03491.hp2 NA18959.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0038 |
3 | 85 | 0.0353 | 19 | c.*47 others(30): Show |
GINS4 | ENSG00000147536.12 | transcript | ENST00000276533.4 | protein_coding | 1820 | chr8 | TogoVar |