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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GAN_chr16_81309962_81395809 | 81353292 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0061 | a0001c0001t0061g0311 | 1 | 384 | 0.0026 | 30 | c.283 others(47): Show |
GAN | ENSG00000261609.8 | transcript | ENST00000648994.2 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
GAN_chr16_81309962_81395809 | 81353297 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0060 | a0001c0001t0060g0310 | 1 | 384 | 0.0026 | 30 | c.283 others(47): Show |
GAN | ENSG00000261609.8 | transcript | ENST00000648994.2 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
GAP43_chr3_115618510_115726483 | 115672732 | C | CCCTCTCC others(23): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02145.hp1 HG02280.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002 a0001c0001t0002g0243 a0001c0001t0002g0244 |
3 | 352 | 0.0085 | 30 | c.31- others(45): Show |
GAP43 | ENSG00000172020.13 | transcript | ENST00000305124.11 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GAP43_chr3_115618510_115726483 | 115698287 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0316 | 1 | 352 | 0.0028 | 30 | c.628 others(49): Show |
GAP43 | ENSG00000172020.13 | transcript | ENST00000305124.11 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
GAREM1_chr18_32258522_32475882 | 32364026 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0015 | a0001c0015t0014 | a0001c0015t0014g0112 | 1 | 192 | 0.0052 | 30 | c.262 others(49): Show |
GAREM1 | ENSG00000141441.16 | transcript | ENST00000269209.7 | protein_coding | 2/5 | chr18 | TogoVar | |||||||
GAREM2_chr2_26168088_26194663 | 26178883 | G | GGGAGGCG others(23): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG01081.hp1 others(50): Show |
a0001a0008a0012others(2): Show | a0001c0001a0008c0021a0012c0016others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(4): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0019 others(19): Show |
53 | 306 | 0.1732 | 30 | c.253 others(47): Show |
GAREM2 | ENSG00000157833.13 | transcript | ENST00000401533.7 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GAREM2_chr2_26168088_26194663 | 26178889 | A | AGGAGGCG others(23): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00733.hp2 others(90): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0007a0001c0014others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0027 others(27): Show |
93 | 306 | 0.3039 | 30 | c.253 others(47): Show |
GAREM2 | ENSG00000157833.13 | transcript | ENST00000401533.7 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GAREM2_chr2_26168088_26194663 | 26178889 | A | AGGAGGCG others(23): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01069.hp1 HG01071.hp2 others(26): Show |
a0001 | a0001c0001a0001c0005a0001c0020 | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0015 others(9): Show |
29 | 306 | 0.0948 | 30 | c.253 others(47): Show |
GAREM2 | ENSG00000157833.13 | transcript | ENST00000401533.7 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GARIN1A_chr7_128667292_128692877 | 128678958 | C | CGTTACAT others(23): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0007 | a0007c0013 | a0007c0013t0004 | a0007c0013t0004g0159 | 1 | 428 | 0.0023 | 30 | c.589 others(47): Show |
GARIN1A | ENSG00000205085.13 | transcript | ENST00000682356.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GARIN3_chr5_157156846_157171264 | 157161704 | T | TCAAGAGT others(23): Show |
downstream_gene_variant | MODIFIER | HG02886.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 2 | 396 | 0.0051 | 30 | c.*71 others(39): Show |
GARIN3 | ENSG00000170613.4 | transcript | ENST00000302938.4 | protein_coding | 141 | chr5 | TogoVar | |||||||
GARIN5B_chr19_55349908_55368260 | 55359429 | C | CGGGATGG others(23): Show |
conservative_inframe_insertion | MODERATE | HG00738.hp1 HG01891.hp2 HG02572.hp1 others(5): Show |
a0009a0020a0028 | a0009c0009a0020c0024a0028c0020 | a0009c0009t0004a0009c0009t0008a0020c0024t0001others(1): Show | a0009c0009t0004g0012 a0009c0009t0004g0137 a0009c0009t0008g0136 others(2): Show |
8 | 356 | 0.0225 | 30 | c.140 others(39): Show |
p.Gln others(13): Show |
GARIN5B | ENSG00000180043.11 | transcript | ENST00000424985.3 | protein_coding | 9/11 | 1632/3191 | 1438/2769 | 480/922 | chr19 | TogoVar | |||
GARNL3_chr9_127259774_127398660 | 127331720 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02647.hp2 NA19057.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0261 |
3 | 300 | 0.0100 | 30 | c.595 others(45): Show |
GARNL3 | ENSG00000136895.19 | transcript | ENST00000373387.9 | protein_coding | 7/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GARNL3_chr9_127259774_127398660 | 127391533 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | NA18747.hp1 NA18747.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 a0001c0001t0001g0264 |
2 | 300 | 0.0067 | 30 | c.287 others(47): Show |
GARNL3 | ENSG00000136895.19 | transcript | ENST00000373387.9 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GARNL3_chr9_127259774_127398660 | 127391533 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG00609.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 a0001c0001t0001g0255 |
2 | 300 | 0.0067 | 30 | c.287 others(47): Show |
GARNL3 | ENSG00000136895.19 | transcript | ENST00000373387.9 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GARRE1_chr19_34249554_34360566 | 34340438 | T | TTTTTCTT others(23): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG02602.hp1 others(1): Show |
a0001a0002a0005 | a0001c0003a0002c0006a0005c0010 | a0001c0003t0008a0002c0006t0003a0005c0010t0003 | a0001c0003t0008g0160 a0002c0006t0003g0156 a0002c0006t0003g0157 others(1): Show |
4 | 326 | 0.0123 | 30 | c.148 others(47): Show |
GARRE1 | ENSG00000166398.14 | transcript | ENST00000299505.8 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GAS2_chr11_22661611_22818001 | 22789423 | G | GATATATA others(23): Show |
intron_variant | MODIFIER | NA18940.hp1 NA18951.hp2 NA18961.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0004 | a0001c0002t0001g0105 a0001c0002t0002g0014 a0001c0002t0004g0125 others(2): Show |
5 | 272 | 0.0184 | 30 | c.724 others(49): Show |
GAS2 | ENSG00000148935.12 | transcript | ENST00000454584.7 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GAS6_chr13_113815549_113869076 | 113836270 | A | AGGAGGGG others(23): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0022 | a0001c0022t0001 | a0001c0022t0001g0008 | 1 | 143 | 0.0070 | 30 | c.590 others(45): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 6/14 | chr13 | TogoVar | |||||||
GAS7_chr17_9905606_10203606 | 10046832 | G | GAAGAAAG others(23): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0059 | a0001c0001t0059g0151 | 1 | 218 | 0.0046 | 30 | c.184 others(49): Show |
GAS7 | ENSG00000007237.19 | transcript | ENST00000432992.7 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
GAS8_chr16_90017680_90049960 | 90047887 | A | AGAGGGGG others(23): Show |
downstream_gene_variant | MODIFIER | HG03490.hp1 HG03492.hp2 NA19070.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0033 | a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0033g0260 |
4 | 390 | 0.0103 | 30 | c.*45 others(41): Show |
GAS8 | ENSG00000141013.17 | transcript | ENST00000268699.9 | protein_coding | 2928 | chr16 | TogoVar | |||||||
GATA5_chr20_62458497_62480995 | 62463817 | G | GCCCTGTG others(23): Show |
3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(37): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0004a0001c0002t0004a0001c0002t0011others(14): Show | a0001c0001t0004g0001 a0001c0001t0004g0027 a0001c0001t0004g0075 others(24): Show |
40 | 382 | 0.1047 | 30 | c.*10 others(41): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 7/7 | 1018 | chr20 | TogoVar | ||||||
GATA5_chr20_62458497_62480995 | 62471432 | A | ATTTTTTT others(23): Show |
intron_variant | MODIFIER | HG04115.hp1 NA18983.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0006 | a0001c0002t0002g0128 a0001c0002t0006g0129 |
2 | 382 | 0.0052 | 30 | c.699 others(47): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 3/6 | chr20 | TogoVar | |||||||
GATA5_chr20_62458497_62480995 | 62477098 | C | CTTCCTTC others(23): Show |
upstream_gene_variant | MODIFIER | NA20300.hp1 | a0002 | a0002c0015 | a0002c0015t0003 | a0002c0015t0003g0242 | 1 | 382 | 0.0026 | 30 | c.-11 others(41): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 1104 | chr20 | TogoVar | |||||||
GATA5_chr20_62458497_62480995 | 62477106 | T | TTCTTTCT others(23): Show |
upstream_gene_variant | MODIFIER | NA19060.hp1 | a0009 | a0009c0019 | a0009c0019t0001 | a0009c0019t0001g0038 | 1 | 382 | 0.0026 | 30 | c.-11 others(41): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 1112 | chr20 | TogoVar | |||||||
GATA5_chr20_62458497_62480995 | 62477303 | T | TTTCTTTC others(23): Show |
upstream_gene_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 382 | 0.0026 | 30 | c.-13 others(41): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 1309 | chr20 | TogoVar | |||||||
GATB_chr4_151665504_151766007 | 151735734 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00597.hp1 HG00735.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0089 others(6): Show |
9 | 320 | 0.0281 | 30 | c.328 others(49): Show |
GATB | ENSG00000059691.12 | transcript | ENST00000263985.11 | protein_coding | 2/12 | chr4 | TogoVar | |||||||
GATD1_chr11_762222_782487 | 763220 | C | CCCCGCCC others(23): Show |
downstream_gene_variant | MODIFIER | HG03130.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0014 | 2 | 430 | 0.0047 | 30 | c.*76 others(41): Show |
GATD1 | ENSG00000177225.17 | transcript | ENST00000319863.13 | protein_coding | 4001 | chr11 | TogoVar | |||||||
GBE1_chr3_81484703_81766645 | 81750611 | A | ATATGTAT others(23): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0112 | 1 | 304 | 0.0033 | 30 | c.143 others(49): Show |
GBE1 | ENSG00000114480.13 | transcript | ENST00000429644.7 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
GBE1_chr3_81484703_81766645 | 81750611 | A | ATATGTAT others(23): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0120 | 1 | 304 | 0.0033 | 30 | c.143 others(49): Show |
GBE1 | ENSG00000114480.13 | transcript | ENST00000429644.7 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
GBP6_chr1_89359059_89393160 | 89392463 | C | CAAGTACC others(23): Show |
downstream_gene_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0002 | 1 | 452 | 0.0022 | 30 | c.*69 others(41): Show |
GBP6 | ENSG00000183347.15 | transcript | ENST00000370456.5 | protein_coding | 4304 | chr1 | TogoVar | |||||||
GCA_chr2_162339132_162368123 | 162345093 | A | ATGGTGGT others(23): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0139 | 1 | 366 | 0.0027 | 30 | c.27+ others(43): Show |
GCA | ENSG00000115271.11 | transcript | ENST00000437150.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GCA_chr2_162339132_162368123 | 162345131 | G | GGTGGTGG others(23): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02015.hp2 NA18962.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 others(1): Show |
5 | 366 | 0.0137 | 30 | c.27+ others(43): Show |
GCA | ENSG00000115271.11 | transcript | ENST00000437150.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GCH1_chr14_54837017_54907826 | 54880503 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0249 a0001c0001t0010g0250 |
2 | 346 | 0.0058 | 30 | c.344 others(49): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | TogoVar | |||||||
GCK_chr7_44139275_44194439 | 44174854 | C | CTCTTCTT others(23): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0216 | 1 | 392 | 0.0026 | 30 | c.45+ others(47): Show |
GCK | ENSG00000106633.18 | transcript | ENST00000403799.8 | protein_coding | 1/9 | chr7 | TogoVar | |||||||
GCK_chr7_44139275_44194439 | 44174915 | T | TCTTCTTC others(23): Show |
intron_variant | MODIFIER | HG01257.hp2 NA18522.hp2 NA18999.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0002g0070 others(3): Show |
6 | 392 | 0.0153 | 30 | c.45+ others(47): Show |
GCK | ENSG00000106633.18 | transcript | ENST00000403799.8 | protein_coding | 1/9 | chr7 | TogoVar | |||||||
GCNA_chrX_71573437_71618583 | 71603978 | T | TTCCCGAC others(23): Show |
conservative_inframe_insertion | MODERATE | HG02055.hp1 HG02056.hp1 HG02165.hp2 others(3): Show |
a0004a0006 | a0004c0004a0006c0006 | a0004c0004t0001a0006c0006t0002 | a0004c0004t0001g0012 a0004c0004t0001g0020 a0004c0004t0001g0024 others(3): Show |
6 | 265 | 0.0226 | 30 | c.823 others(37): Show |
p.Pro others(13): Show |
GCNA | ENSG00000147174.12 | transcript | ENST00000373696.8 | protein_coding | 8/13 | 941/2765 | 853/2076 | 285/691 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
GCNT2_chr6_10516351_10634368 | 10569235 | C | CCACACAC others(23): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01361.hp2 HG01517.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0049 a0001c0001t0001g0105 a0001c0001t0001g0146 others(9): Show |
12 | 324 | 0.0370 | 30 | c.925 others(49): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GCNT2_chr6_10516351_10634368 | 10569273 | A | ACACACAC others(23): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 324 | 0.0031 | 30 | c.925 others(49): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GCNT2_chr6_10550809_10634368 | 10569235 | C | CCACACAC others(23): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01074.hp2 HG01361.hp1 others(10): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(2): Show | a0001c0001t0001g0075 a0001c0001t0001g0103 a0001c0001t0001g0124 others(10): Show |
13 | 344 | 0.0378 | 30 | c.919 others(49): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000316170.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GCNT2_chr6_10550809_10634368 | 10569273 | A | ACACACAC others(23): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0260 | 1 | 344 | 0.0029 | 30 | c.919 others(49): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000316170.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GCSH_chr16_81076945_81101395 | 81080667 | A | ATTTTTTT others(23): Show |
downstream_gene_variant | MODIFIER | HG00621.hp2 HG01346.hp1 HG02615.hp2 others(3): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0002a0002c0004t0002 | a0002c0002t0002g0002 a0002c0004t0002g0014 a0002c0004t0002g0031 others(1): Show |
6 | 354 | 0.0170 | 30 | c.*21 others(41): Show |
GCSH | ENSG00000140905.11 | transcript | ENST00000315467.9 | protein_coding | 1277 | chr16 | TogoVar | |||||||
GDA_chr9_72144440_72257224 | 72198846 | G | GATATATA others(23): Show |
intron_variant | MODIFIER | HG02723.hp1 HG02970.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0008 | a0001c0001t0002g0235 a0001c0001t0007g0242 a0001c0001t0008g0254 |
3 | 312 | 0.0096 | 30 | c.212 others(47): Show |
GDA | ENSG00000119125.17 | transcript | ENST00000358399.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GDF7_chr2_20662144_20684243 | 20663249 | T | TAAAAAAA others(23): Show |
upstream_gene_variant | MODIFIER | HG01433.hp1 HG02257.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0130 | a0001c0001t0008g0001 a0001c0001t0130g0004 |
3 | 442 | 0.0068 | 30 | c.-39 others(41): Show |
GDF7 | ENSG00000143869.7 | transcript | ENST00000272224.5 | protein_coding | 3894 | chr2 | TogoVar | |||||||
GEMIN2_chr14_39109323_39141973 | 39123708 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0343 | 1 | 424 | 0.0024 | 30 | c.486 others(47): Show |
GEMIN2 | ENSG00000092208.19 | transcript | ENST00000308317.12 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GEMIN6_chr2_38773210_38790002 | 38779664 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | NA19010.hp1 NA19075.hp2 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0039 | 2 | 412 | 0.0049 | 30 | c.128 others(45): Show |
GEMIN6 | ENSG00000152147.11 | transcript | ENST00000281950.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GEN1_chr2_17749138_17793946 | 17778347 | C | CATGTGTA others(23): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0002 | a0002c0002 | a0002c0002t0046 | a0002c0002t0046g0083 | 1 | 318 | 0.0031 | 30 | c.126 others(47): Show |
GEN1 | ENSG00000178295.15 | transcript | ENST00000381254.7 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GET4_chr7_871554_901436 | 876361 | A | ACCCGCCC others(23): Show |
upstream_gene_variant | MODIFIER | HG02647.hp1 HG02717.hp2 |
a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0038 | 2 | 384 | 0.0052 | 30 | c.-28 others(39): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 192 | chr7 | TogoVar | |||||||
GET4_chr7_871554_901436 | 894121 | A | ATTATTAG others(23): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0047 | 1 | 384 | 0.0026 | 30 | c.895 others(45): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GFPT2_chr5_180295698_180358336 | 180297458 | A | AAAAAAAA others(23): Show |
downstream_gene_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0293 | 1 | 412 | 0.0024 | 30 | c.*41 others(41): Show |
GFPT2 | ENSG00000131459.13 | transcript | ENST00000253778.13 | protein_coding | 3239 | chr5 | TogoVar | |||||||
GFPT2_chr5_180295698_180358336 | 180297458 | A | AAAAAAAA others(23): Show |
downstream_gene_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0231 | 1 | 412 | 0.0024 | 30 | c.*41 others(41): Show |
GFPT2 | ENSG00000131459.13 | transcript | ENST00000253778.13 | protein_coding | 3239 | chr5 | TogoVar | |||||||
GFPT2_chr5_180295698_180358336 | 180297458 | A | AAAAAAAA others(23): Show |
downstream_gene_variant | MODIFIER | HG02071.hp2 HG04184.hp1 NA19070.hp2 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0001a0001c0003t0002a0001c0005t0004 | a0001c0003t0001g0209 a0001c0003t0002g0342 a0001c0005t0004g0202 |
3 | 412 | 0.0073 | 30 | c.*41 others(41): Show |
GFPT2 | ENSG00000131459.13 | transcript | ENST00000253778.13 | protein_coding | 3239 | chr5 | TogoVar |