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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GAS8_chr16_90017680_90049960 | 90028173 | A | ATTTTTTT | intron_variant | MODIFIER | HG00741.hp2 HG01106.hp2 HG01261.hp2 others(14): Show |
a0001a0010 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(3): Show | a0001c0002t0001g0169a0001c0002t0002g0152a0001c0002t0002g0153others(14): Show | 17 | 390 | 0.0436 | 7 | c.90+ others(20): Show |
GAS8 | ENSG00000141013.17 | transcript | ENST00000268699.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
GAST_chr17_41707331_41720969 | 41708612 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG02145.hp2 HG02451.hp1 HG02723.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 8 | 396 | 0.0202 | 7 | c.-37 others(18): Show |
GAST | ENSG00000184502.4 | transcript | ENST00000329402.4 | protein_coding | 3718 | chr17 | TogoVar | ||||||
GATA5_chr20_62458497_62480995 | 62477138 | T | TTTCTTTC | upstream_gene_variant | MODIFIER | HG01175.hp2 NA19005.hp1 NA21309.hp1 |
a0001a0002 | a0001c0002a0002c0005a0002c0006 | a0001c0002t0036a0002c0005t0001a0002c0006t0005 | a0001c0002t0036g0104a0002c0005t0001g0246a0002c0006t0005g0017 | 3 | 382 | 0.0079 | 7 | c.-12 others(18): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 1144 | chr20 | TogoVar | ||||||
GATA6_chr18_22164589_22207528 | 22204108 | C | CTCTCTCT | downstream_gene_variant | MODIFIER | HG01981.hp1 HG03239.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014a0001c0001t0002g0216a0001c0001t0002g0222 | 3 | 286 | 0.0105 | 7 | c.*32 others(18): Show |
GATA6 | ENSG00000141448.11 | transcript | ENST00000269216.10 | protein_coding | 1581 | chr18 | TogoVar | ||||||
GATAD2A_chr19_19400675_19513932 | 19469431 | C | CAAAAAAA | intron_variant | MODIFIER | HG01515.hp1 HG01884.hp1 HG02257.hp2 others(14): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0001t0005a0001c0001t0020others(2): Show | a0001c0001t0004g0148a0001c0001t0004g0149a0001c0001t0005g0012others(14): Show | 17 | 298 | 0.0571 | 7 | c.269 others(24): Show |
GATAD2A | ENSG00000167491.18 | transcript | ENST00000683918.1 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
GATAD2A_chr19_19400675_19513932 | 19510409 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG00642.hp1 HG01099.hp1 HG01109.hp2 others(44): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(7): Show | a0001c0001t0004g0127a0001c0001t0004g0131a0001c0001t0004g0132others(44): Show | 47 | 298 | 0.1577 | 7 | c.*49 others(18): Show |
GATAD2A | ENSG00000167491.18 | transcript | ENST00000683918.1 | protein_coding | 1478 | chr19 | TogoVar | ||||||
GATAD2A_chr19_19400675_19513932 | 19513364 | T | TTCTTTTC | downstream_gene_variant | MODIFIER | HG00639.hp1 HG01074.hp1 HG01952.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0048 | a0001c0001t0002g0009a0001c0001t0002g0038a0001c0001t0002g0041others(9): Show | 12 | 298 | 0.0403 | 7 | c.*78 others(18): Show |
GATAD2A | ENSG00000167491.18 | transcript | ENST00000683918.1 | protein_coding | 4433 | chr19 | TogoVar | ||||||
GATAD2B_chr1_153799725_153927972 | 153815081 | C | CAAAAAAA | intron_variant | MODIFIER | HG00438.hp2 HG00741.hp2 HG01070.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0075a0001c0001t0003g0099a0001c0001t0003g0149others(12): Show | 15 | 349 | 0.0430 | 7 | c.121 others(26): Show |
GATAD2B | ENSG00000143614.11 | transcript | ENST00000368655.5 | protein_coding | 7/10 | chr1 | TogoVar | ||||||
GATAD2B_chr1_153799725_153927972 | 153876227 | C | CAAAAAAA | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00438.hp1 others(37): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0232a0001c0001t0001g0236a0001c0001t0002g0016others(37): Show | 40 | 349 | 0.1146 | 7 | c.-2+ others(24): Show |
GATAD2B | ENSG00000143614.11 | transcript | ENST00000368655.5 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
GATB_chr4_151665504_151766007 | 151686652 | G | GCCCCGCC | intron_variant | MODIFIER | HG00140.hp1 HG01070.hp1 HG01346.hp2 others(30): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0009c0010 | a0001c0001t0001a0002c0002t0001a0009c0010t0001 | a0001c0001t0001g0055a0001c0001t0001g0059a0001c0001t0001g0064others(30): Show | 33 | 320 | 0.1031 | 7 | c.133 others(26): Show |
GATB | ENSG00000059691.12 | transcript | ENST00000263985.11 | protein_coding | 10/12 | chr4 | TogoVar | ||||||
GATB_chr4_151665504_151766007 | 151695930 | A | ATTTTTTT | intron_variant | MODIFIER | HG00323.hp2 HG00597.hp2 HG00642.hp1 others(34): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0009a0002c0002others(2): Show | a0001c0001t0001a0001c0009t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0141a0001c0009t0001g0182a0002c0002t0001g0002others(32): Show | 37 | 320 | 0.1156 | 7 | c.119 others(26): Show |
GATB | ENSG00000059691.12 | transcript | ENST00000263985.11 | protein_coding | 9/12 | chr4 | TogoVar | ||||||
GATC_chr12_120441444_120468749 | 120451143 | C | CAAAAAAA | intron_variant | MODIFIER | HG01516.hp1 HG01517.hp2 HG02083.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0028a0002c0003t0010 | a0001c0001t0028g0061a0002c0003t0010g0014a0002c0003t0010g0058 | 6 | 408 | 0.0147 | 7 | c.254 others(24): Show |
GATC | ENSG00000257218.6 | transcript | ENST00000551765.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
GBE1_chr3_81484703_81766645 | 81501686 | C | CTTTTTTT | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG01884.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0160a0001c0001t0002g0161a0002c0002t0001g0004others(8): Show | 11 | 304 | 0.0362 | 7 | c.193 others(26): Show |
GBE1 | ENSG00000114480.13 | transcript | ENST00000429644.7 | protein_coding | 14/15 | chr3 | TogoVar | ||||||
GBE1_chr3_81484703_81766645 | 81612220 | T | TAAAAAAA | intron_variant | MODIFIER | HG00423.hp1 HG02015.hp1 HG02056.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0285a0001c0001t0005g0286a0001c0001t0005g0287others(3): Show | 6 | 304 | 0.0197 | 7 | c.993 others(26): Show |
GBE1 | ENSG00000114480.13 | transcript | ENST00000429644.7 | protein_coding | 7/15 | chr3 | TogoVar | ||||||
GBE1_chr3_81484703_81766645 | 81710232 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(86): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0006others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(11): Show | a0001c0001t0002g0197a0001c0001t0002g0205a0001c0001t0002g0206others(86): Show | 89 | 304 | 0.2928 | 7 | c.144 others(24): Show |
GBE1 | ENSG00000114480.13 | transcript | ENST00000429644.7 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
GBF1_chr10_102240532_102387896 | 102293764 | G | GTTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00673.hp1 HG00741.hp2 others(29): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0114a0001c0001t0001g0141a0001c0001t0001g0208others(29): Show | 32 | 330 | 0.0970 | 7 | c.163 others(26): Show |
GBF1 | ENSG00000107862.7 | transcript | ENST00000369983.5 | protein_coding | 3/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
GBP3_chr1_89001680_89027866 | 89021832 | A | AGAGAGAG | intron_variant | MODIFIER | HG01192.hp2 HG01978.hp1 HG01978.hp2 others(1): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0002a0002c0002t0003others(1): Show | a0001c0001t0001g0232a0001c0001t0002g0233a0002c0002t0003g0164others(1): Show | 4 | 436 | 0.0092 | 7 | c.-23 others(22): Show |
GBP3 | ENSG00000117226.12 | transcript | ENST00000370481.9 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
GCA_chr2_162339132_162368123 | 162341267 | T | TATATATA | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00544.hp2 NA18992.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0091a0001c0001t0001g0096 | 4 | 366 | 0.0109 | 7 | c.-29 others(18): Show |
GCA | ENSG00000115271.11 | transcript | ENST00000437150.7 | protein_coding | 2864 | chr2 | TogoVar | ||||||
GCC2_chr2_108444206_108514415 | 108459745 | C | CTTTTTTT | intron_variant | MODIFIER | HG00323.hp2 HG01071.hp1 HG01106.hp2 others(30): Show |
a0001a0003a0010 | a0001c0002a0001c0005a0003c0004others(1): Show | a0001c0002t0001a0001c0002t0008a0001c0002t0021others(5): Show | a0001c0002t0001g0012a0001c0002t0001g0015a0001c0002t0001g0050others(30): Show | 33 | 276 | 0.1196 | 7 | c.216 others(24): Show |
GCC2 | ENSG00000135968.22 | transcript | ENST00000309863.11 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GCC2_chr2_108444206_108514415 | 108509733 | A | ATTTTTTT | downstream_gene_variant | MODIFIER | HG01106.hp2 HG01109.hp1 HG01361.hp2 others(14): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0002t0008a0001c0002t0021others(2): Show | a0001c0002t0001g0016a0001c0002t0001g0025a0001c0002t0001g0032others(14): Show | 17 | 276 | 0.0616 | 7 | c.*21 others(18): Show |
GCC2 | ENSG00000135968.22 | transcript | ENST00000309863.11 | protein_coding | 319 | chr2 | TogoVar | ||||||
GCH1_chr14_54837017_54907826 | 54855434 | A | AGGTGGAG | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02572.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0028 | a0001c0001t0001g0049a0001c0001t0001g0072a0001c0001t0001g0073others(9): Show | 12 | 346 | 0.0347 | 7 | c.509 others(24): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | TogoVar | ||||||
GCH1_chr14_54837017_54907826 | 54867589 | C | CAAAAAAA | intron_variant | MODIFIER | HG00423.hp1 HG00673.hp2 HG01891.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0118others(20): Show | 23 | 346 | 0.0665 | 7 | c.344 others(24): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | TogoVar | ||||||
GCKR_chr2_27491839_27528684 | 27495945 | C | CAATGTTG | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(130): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0010a0001c0012others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0009others(103): Show | 133 | 324 | 0.4105 | 7 | c.-96 others(16): Show |
GCKR | ENSG00000084734.9 | transcript | ENST00000264717.7 | protein_coding | 893 | chr2 | TogoVar | ||||||
GCLC_chr6_53492341_53550101 | 53534476 | C | CCAAAAAA | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(291): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(46): Show | a0001c0001t0001g0168a0001c0001t0001g0169a0001c0001t0001g0185others(270): Show | 294 | 426 | 0.6901 | 7 | c.150 others(26): Show |
GCLC | ENSG00000001084.13 | transcript | ENST00000650454.1 | protein_coding | 1/15 | chr6 | TogoVar | ||||||
GCLC_chr6_53492341_53550101 | 53542793 | A | ATCACCTG | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(361): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(56): Show | a0001c0001t0001g0019a0001c0001t0001g0162a0001c0001t0001g0168others(337): Show | 364 | 426 | 0.8545 | 7 | c.150 others(24): Show |
GCLC | ENSG00000001084.13 | transcript | ENST00000650454.1 | protein_coding | 1/15 | chr6 | TogoVar | ||||||
GCLM_chr1_93880199_93914430 | 93895013 | T | TACTACAC | intron_variant | MODIFIER | HG01884.hp2 HG02965.hp1 HG03098.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0033 | a0001c0001t0015g0017a0001c0001t0015g0053a0001c0001t0033g0052 | 5 | 382 | 0.0131 | 7 | c.541 others(22): Show |
GCLM | ENSG00000023909.10 | transcript | ENST00000370238.8 | protein_coding | 5/6 | chr1 | TogoVar | ||||||
GCM1_chr6_53121961_53153841 | 53128028 | C | CAAAAAAA | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00544.hp1 HG00639.hp1 others(30): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0022a0001c0003t0003 | a0001c0001t0003g0039a0001c0001t0003g0097a0001c0001t0003g0109others(30): Show | 33 | 412 | 0.0801 | 7 | c.*17 others(16): Show |
GCM1 | ENSG00000137270.11 | transcript | ENST00000259803.8 | protein_coding | 6/6 | 177 | chr6 | TogoVar | |||||
GCM1_chr6_53121961_53153841 | 53146217 | T | TATATATA | intron_variant | MODIFIER | NA19043.hp1 NA19054.hp1 NA19063.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0004t0018a0001c0004t0019 | a0001c0001t0003g0228a0001c0004t0018g0282a0001c0004t0019g0283 | 3 | 412 | 0.0073 | 7 | c.-13 others(24): Show |
GCM1 | ENSG00000137270.11 | transcript | ENST00000259803.8 | protein_coding | 1/5 | chr6 | TogoVar | ||||||
GCM2_chr6_10868223_10887041 | 10883180 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00673.hp2 HG01346.hp2 HG02145.hp2 others(5): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0006 | a0001c0001t0001g0026a0001c0001t0001g0047a0001c0001t0001g0084others(4): Show | 8 | 426 | 0.0188 | 7 | c.-13 others(18): Show |
GCM2 | ENSG00000124827.7 | transcript | ENST00000379491.5 | protein_coding | 1140 | chr6 | TogoVar | ||||||
GCM2_chr6_10868223_10887041 | 10884328 | G | GAAAAAAA | upstream_gene_variant | MODIFIER | HG01433.hp2 HG02027.hp1 HG02027.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0031a0001c0001t0002g0002a0001c0001t0002g0009others(9): Show | 21 | 426 | 0.0493 | 7 | c.-25 others(18): Show |
GCM2 | ENSG00000124827.7 | transcript | ENST00000379491.5 | protein_coding | 2288 | chr6 | TogoVar | ||||||
GCN1_chr12_120122202_120199715 | 120181465 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00438.hp1 others(87): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0003a0001c0005others(7): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(8): Show | a0001c0002t0001g0130a0001c0002t0001g0162a0001c0002t0002g0002others(82): Show | 90 | 312 | 0.2885 | 7 | c.426 others(24): Show |
GCN1 | ENSG00000089154.11 | transcript | ENST00000300648.7 | protein_coding | 5/57 | chr12 | TogoVar | ||||||
GCNT2_chr6_10516351_10634368 | 10539180 | C | CTTTTTTT | intron_variant | MODIFIER | HG00558.hp1 HG00639.hp2 HG01071.hp1 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0139a0001c0001t0001g0142a0001c0001t0001g0154others(31): Show | 34 | 324 | 0.1049 | 7 | c.925 others(24): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
GCNT2_chr6_10516351_10634368 | 10582491 | A | AATACATC | intron_variant | MODIFIER | HG00140.hp1 HG01099.hp1 HG01099.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006 | a0001c0001t0001g0032a0001c0001t0001g0125a0001c0001t0001g0192others(4): Show | 7 | 324 | 0.0216 | 7 | c.926 others(26): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
GCNT2_chr6_10550809_10634368 | 10582491 | A | AATACATC | intron_variant | MODIFIER | HG00140.hp1 HG01099.hp1 HG01099.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0056a0001c0001t0001g0067a0001c0001t0001g0189others(6): Show | 9 | 344 | 0.0262 | 7 | c.919 others(26): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000316170.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
GCNT3_chr15_59606783_59627723 | 59621586 | A | ATTTTTTT | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp2 others(56): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0018others(16): Show | a0001c0001t0004g0001a0001c0001t0004g0003a0001c0001t0004g0004others(42): Show | 59 | 428 | 0.1379 | 7 | c.*20 others(18): Show |
GCNT3 | ENSG00000140297.13 | transcript | ENST00000396065.3 | protein_coding | 3/3 | 2037 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||
GCSAML_chr1_247544134_247582690 | 247581542 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00544.hp2 others(49): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0027 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0016others(32): Show | 52 | 412 | 0.1262 | 7 | c.*71 others(18): Show |
GCSAML | ENSG00000169224.13 | transcript | ENST00000366488.5 | protein_coding | 3853 | chr1 | TogoVar | ||||||
GDAP1_chr8_74345403_74371876 | 74362784 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00438.hp2 others(86): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(5): Show | a0001c0001t0002g0002a0001c0001t0002g0012a0001c0001t0002g0020others(22): Show | 89 | 430 | 0.2070 | 7 | c.580 others(22): Show |
GDAP1 | ENSG00000104381.14 | transcript | ENST00000220822.12 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
GDF1_chr19_18863545_18901158 | 18872699 | A | ATATTTAG | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(167): Show |
a0001a0007a0009others(1): Show | a0001c0001a0001c0004a0007c0009others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0002a0001c0001t0001g0014a0001c0001t0001g0015others(148): Show | 170 | 380 | 0.4474 | 7 | c.-31 others(26): Show |
GDF1 | ENSG00000130283.9 | transcript | ENST00000247005.8 | protein_coding | 6/7 | chr19 | TogoVar | ||||||
GDF6_chr8_96137333_96165806 | 96144291 | A | AGAGAGAG | 3_prime_UTR_variant | MODIFIER | HG01175.hp1 HG03139.hp1 NA18942.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0031a0001c0001t0042 | a0001c0001t0031g0167a0001c0001t0031g0175a0001c0001t0031g0195others(2): Show | 5 | 368 | 0.0136 | 7 | c.*27 others(16): Show |
GDF6 | ENSG00000156466.11 | transcript | ENST00000287020.7 | protein_coding | 2/2 | 271 | chr8 | TogoVar | |||||
GDPD1_chr17_59215511_59280970 | 59246709 | C | CAAAAAAA | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02896.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0019 | a0001c0001t0008g0066a0001c0001t0008g0070a0001c0001t0008g0071others(3): Show | 6 | 312 | 0.0192 | 7 | c.321 others(24): Show |
GDPD1 | ENSG00000153982.11 | transcript | ENST00000284116.9 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
GDPD5_chr11_75429640_75530941 | 75496779 | C | CTTTCTTT | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00544.hp2 others(23): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(5): Show | a0001c0001t0001g0126a0001c0001t0002g0109a0001c0003t0001g0057others(20): Show | 26 | 322 | 0.0808 | 7 | c.-14 others(26): Show |
GDPD5 | ENSG00000158555.15 | transcript | ENST00000336898.8 | protein_coding | 1/16 | chr11 | TogoVar | ||||||
GEMIN5_chr5_154882411_154943211 | 154900885 | G | GTCCAAAC | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(312): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0004a0001c0014others(27): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(267): Show | 315 | 338 | 0.9320 | 7 | c.301 others(24): Show |
GEMIN5 | ENSG00000082516.9 | transcript | ENST00000285873.8 | protein_coding | 21/27 | chr5 | TogoVar | ||||||
GEMIN5_chr5_154882411_154943211 | 154936416 | C | CAAAAAAA | intron_variant | MODIFIER | HG01952.hp1 HG01978.hp1 HG02055.hp1 others(17): Show |
a0003 | a0003c0003a0003c0005 | a0003c0003t0001a0003c0003t0007a0003c0005t0001 | a0003c0003t0001g0009a0003c0003t0001g0013a0003c0003t0001g0035others(14): Show | 20 | 338 | 0.0592 | 7 | c.328 others(22): Show |
GEMIN5 | ENSG00000082516.9 | transcript | ENST00000285873.8 | protein_coding | 2/27 | chr5 | TogoVar | ||||||
GEMIN6_chr2_38773210_38790002 | 38779665 | T | TATATATA | intron_variant | MODIFIER | HG01943.hp2 HG01978.hp2 HG03017.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0013 | a0001c0001t0002g0030a0001c0001t0002g0081a0001c0001t0002g0087others(2): Show | 6 | 412 | 0.0146 | 7 | c.128 others(22): Show |
GEMIN6 | ENSG00000152147.11 | transcript | ENST00000281950.8 | protein_coding | 2/2 | chr2 | TogoVar | ||||||
GEMIN8_chrX_14001726_14034892 | 14011516 | C | CTTTTTTT | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG03098.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009 | a0001c0001t0001g0028a0001c0001t0001g0167a0001c0001t0003g0150others(1): Show | 5 | 273 | 0.0183 | 7 | c.473 others(24): Show |
GEMIN8 | ENSG00000046647.14 | transcript | ENST00000680255.1 | protein_coding | 4/4 | chrX | TogoVar | ||||||
GEMIN8_chrX_14001726_14034892 | 14016848 | A | ATATATAT | intron_variant | MODIFIER | NA18939.hp1 NA18942.hp1 NA18994.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0030a0002c0002t0002g0184 | 3 | 273 | 0.0110 | 7 | c.472 others(24): Show |
GEMIN8 | ENSG00000046647.14 | transcript | ENST00000680255.1 | protein_coding | 4/4 | chrX | TogoVar | ||||||
GEMIN8_chrX_14001726_14034892 | 14016866 | A | ATATATAT | intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 273 | 0.0037 | 7 | c.472 others(24): Show |
GEMIN8 | ENSG00000046647.14 | transcript | ENST00000680255.1 | protein_coding | 4/4 | chrX | TogoVar | ||||||
GET3_chr19_12732497_12753323 | 12735311 | G | GTTTTGGT | upstream_gene_variant | MODIFIER | HG01109.hp2 HG01123.hp2 HG01884.hp1 others(67): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0009a0001c0001t0001g0014others(37): Show | 70 | 286 | 0.2448 | 7 | c.-21 others(18): Show |
GET3 | ENSG00000198356.12 | transcript | ENST00000357332.8 | protein_coding | 2185 | chr19 | TogoVar | ||||||
GFI1_chr1_92468043_92491925 | 92481959 | A | ACACACAC | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(60): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0011others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(25): Show | 63 | 342 | 0.1842 | 7 | c.299 others(22): Show |
GFI1 | ENSG00000162676.13 | transcript | ENST00000294702.6 | protein_coding | 3/6 | chr1 | TogoVar | ||||||
GFM1_chr3_158639527_158700581 | 158670932 | C | CAAAGAAA | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00423.hp1 others(156): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0004a0001c0008others(5): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(24): Show | a0001c0001t0003g0009a0001c0001t0003g0012a0001c0001t0003g0026others(138): Show | 159 | 372 | 0.4274 | 7 | c.160 others(26): Show |
GFM1 | ENSG00000168827.15 | transcript | ENST00000486715.6 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |