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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GALNTL6_chr4_171808404_173046559 | 172528952 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02015.hp1 HG02647.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0011a0001c0001t0001g0033a0001c0001t0002g0035others(4): Show | 7 | 40 | 0.1750 | 26 | c.553 others(47): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GALNTL6_chr4_171808404_173046559 | 172745446 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 40 | 0.0250 | 26 | c.554 others(45): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GALR1_chr18_77244848_77282900 | 77281061 | T | TTATATAT others(19): Show |
downstream_gene_variant | MODIFIER | HG02451.hp2 HG02922.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0079a0001c0004t0048 | a0001c0001t0079g0338a0001c0004t0048g0322 | 2 | 366 | 0.0055 | 26 | c.*12 others(39): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 3162 | chr18 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77281062 | A | AATATATA others(19): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 HG01069.hp1 HG01258.hp1 others(28): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(20): Show | a0001c0001t0001g0089a0001c0001t0001g0114a0001c0001t0003g0112others(28): Show | 31 | 366 | 0.0847 | 26 | c.*12 others(39): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 3163 | chr18 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77281090 | T | TATATATA others(19): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG03490.hp2 HG03492.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0027others(1): Show | a0001c0001t0001g0116a0001c0001t0001g0117a0001c0001t0001g0121others(4): Show | 8 | 366 | 0.0219 | 26 | c.*12 others(39): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 3191 | chr18 | TogoVar | ||||||
GAN_chr16_81309962_81395809 | 81391022 | C | CTTCCATC others(19): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(42): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0011a0001c0001t0020a0001c0001t0051others(31): Show | a0001c0001t0011g0095a0001c0001t0011g0120a0001c0001t0020g0237others(42): Show | 45 | 384 | 0.1172 | 26 | c.*13 others(39): Show |
GAN | ENSG00000261609.8 | transcript | ENST00000648994.2 | protein_coding | 214 | chr16 | TogoVar | ||||||
GAREM1_chr18_32258522_32475882 | 32364026 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0049 | 1 | 192 | 0.0052 | 26 | c.262 others(45): Show |
GAREM1 | ENSG00000141441.16 | transcript | ENST00000269209.7 | protein_coding | 2/5 | chr18 | TogoVar | ||||||
GAREM1_chr18_32258522_32475882 | 32364026 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0127 | 1 | 192 | 0.0052 | 26 | c.262 others(45): Show |
GAREM1 | ENSG00000141441.16 | transcript | ENST00000269209.7 | protein_coding | 2/5 | chr18 | TogoVar | ||||||
GAREM1_chr18_32258522_32475882 | 32364026 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0025 | a0001c0025t0008 | a0001c0025t0008g0029 | 1 | 192 | 0.0052 | 26 | c.262 others(45): Show |
GAREM1 | ENSG00000141441.16 | transcript | ENST00000269209.7 | protein_coding | 2/5 | chr18 | TogoVar | ||||||
GARIN1A_chr7_128667292_128692877 | 128679006 | T | TTATGTAA others(19): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00597.hp1 others(34): Show |
a0004 | a0004c0004 | a0004c0004t0007a0004c0004t0009a0004c0004t0020others(6): Show | a0004c0004t0007g0006a0004c0004t0007g0014a0004c0004t0007g0018others(19): Show | 37 | 428 | 0.0865 | 26 | c.589 others(42): Show |
GARIN1A | ENSG00000205085.13 | transcript | ENST00000682356.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GARIN2_chr14_67184440_67228940 | 67193090 | A | ATCTCTAT others(19): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0245 | 1 | 332 | 0.0030 | 26 | c.-11 others(45): Show |
GARIN2 | ENSG00000172717.17 | transcript | ENST00000696955.1 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
GARIN2_chr14_67184440_67228940 | 67193165 | C | CATCTATA others(19): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00741.hp1 HG02145.hp1 others(2): Show |
a0001a0002a0005 | a0001c0001a0002c0003a0005c0013 | a0001c0001t0001a0002c0003t0001a0005c0013t0001 | a0001c0001t0001g0053a0001c0001t0001g0089a0001c0001t0001g0090others(2): Show | 5 | 332 | 0.0151 | 26 | c.-11 others(45): Show |
GARIN2 | ENSG00000172717.17 | transcript | ENST00000696955.1 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
GARIN5A_chr19_50461788_50481848 | 50472090 | A | ATGTATAT others(19): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 414 | 0.0024 | 26 | c.539 others(43): Show |
GARIN5A | ENSG00000142530.11 | transcript | ENST00000600100.6 | protein_coding | 3/4 | chr19 | TogoVar | ||||||
GARNL3_chr9_127259774_127398660 | 127331720 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01070.hp1 HG03239.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118a0001c0001t0001g0249a0001c0001t0001g0251others(6): Show | 9 | 300 | 0.0300 | 26 | c.595 others(41): 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(19): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 NA19055.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0181 | 3 | 300 | 0.0100 | 26 | c.287 others(43): 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(19): Show |
intron_variant | MODIFIER | HG01070.hp1 NA18970.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251a0001c0001t0001g0266 | 2 | 300 | 0.0067 | 26 | c.287 others(43): 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(19): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 300 | 0.0033 | 26 | c.287 others(43): Show |
GARNL3 | ENSG00000136895.19 | transcript | ENST00000373387.9 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
GARRE1_chr19_34249554_34360566 | 34293715 | A | AACACACA others(19): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0144 | 1 | 326 | 0.0031 | 26 | c.-79 others(45): Show |
GARRE1 | ENSG00000166398.14 | transcript | ENST00000299505.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
GAS2_chr11_22661611_22818001 | 22789423 | G | GATATATA others(19): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0171 | 1 | 272 | 0.0037 | 26 | c.724 others(45): Show |
GAS2 | ENSG00000148935.12 | transcript | ENST00000454584.7 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
GAS7_chr17_9905606_10203606 | 9998699 | A | AAAGGGAA others(19): Show |
intron_variant | MODIFIER | HG02027.hp1 HG03834.hp2 HG03942.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104a0001c0001t0001g0130a0001c0001t0001g0192 | 3 | 218 | 0.0138 | 26 | c.305 others(45): Show |
GAS7 | ENSG00000007237.19 | transcript | ENST00000432992.7 | protein_coding | 2/13 | chr17 | TogoVar | ||||||
GATAD2B_chr1_153799725_153927972 | 153876227 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0060 | 1 | 349 | 0.0029 | 26 | c.-2+ others(43): Show |
GATAD2B | ENSG00000143614.11 | transcript | ENST00000368655.5 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
GATB_chr4_151665504_151766007 | 151735734 | G | GTATATAT others(19): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00558.hp2 HG01361.hp2 others(17): Show |
a0001a0009 | a0001c0001a0009c0010 | a0001c0001t0001a0009c0010t0001 | a0001c0001t0001g0053a0001c0001t0001g0055a0001c0001t0001g0080others(17): Show | 20 | 320 | 0.0625 | 26 | c.328 others(45): Show |
GATB | ENSG00000059691.12 | transcript | ENST00000263985.11 | protein_coding | 2/12 | chr4 | TogoVar | ||||||
GATD1_chr11_762222_782487 | 772804 | G | GAGGTTCC others(19): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0004 | a0001c0004t0044 | a0001c0004t0044g0053 | 1 | 430 | 0.0023 | 26 | c.356 others(41): Show |
GATD1 | ENSG00000177225.17 | transcript | ENST00000319863.13 | protein_coding | 4/7 | chr11 | TogoVar | ||||||
GBF1_chr10_102240532_102387896 | 102242928 | C | CAAAAAAA others(19): Show |
upstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0004 | 1 | 330 | 0.0030 | 26 | c.-28 others(37): Show |
GBF1 | ENSG00000107862.7 | transcript | ENST00000369983.5 | protein_coding | 2603 | chr10 | TogoVar | ||||||
GCHFR_chr15_40759068_40772708 | 40770943 | A | ACAGTGGA others(19): Show |
downstream_gene_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 416 | 0.0024 | 26 | c.*35 others(37): Show |
GCHFR | ENSG00000137880.6 | transcript | ENST00000260447.6 | protein_coding | 3236 | chr15 | TogoVar | ||||||
GCNT2_chr6_10516351_10634368 | 10534139 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG02293.hp1 HG02293.hp2 HG02738.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0020others(1): Show | a0001c0001t0001g0190a0001c0001t0001g0300a0001c0001t0002g0264others(2): Show | 5 | 324 | 0.0154 | 26 | c.925 others(43): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
GCNT2_chr6_10516351_10634368 | 10569235 | C | CCACACAC others(19): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00621.hp1 HG02071.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0018 | a0001c0001t0001g0041a0001c0001t0001g0048a0001c0001t0001g0053others(11): Show | 14 | 324 | 0.0432 | 26 | c.925 others(45): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
GCNT2_chr6_10516351_10634368 | 10606603 | C | CTTCCATT others(19): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01081.hp2 HG01243.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0001g0011a0001c0001t0001g0014a0001c0001t0001g0019others(11): Show | 14 | 324 | 0.0432 | 26 | c.926 others(45): 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(19): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00621.hp2 others(11): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0017a0001c0004t0003 | a0001c0001t0001g0015a0001c0001t0001g0096a0001c0001t0001g0128others(11): Show | 14 | 344 | 0.0407 | 26 | c.919 others(45): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000316170.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
GCNT2_chr6_10550809_10634368 | 10606603 | C | CTTCCATT others(19): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01081.hp1 HG01243.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0091a0001c0001t0001g0095a0001c0001t0001g0140others(11): Show | 14 | 344 | 0.0407 | 26 | c.920 others(45): 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(19): Show |
downstream_gene_variant | MODIFIER | NA18967.hp2 NA19057.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0002a0002c0002t0002g0012 | 2 | 354 | 0.0057 | 26 | c.*21 others(37): Show |
GCSH | ENSG00000140905.11 | transcript | ENST00000315467.9 | protein_coding | 1277 | chr16 | TogoVar | ||||||
GCSH_chr16_81076945_81101395 | 81100754 | T | TCTCTCAA others(19): Show |
upstream_gene_variant | MODIFIER | NA18995.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0002 | 1 | 354 | 0.0028 | 26 | c.-44 others(37): Show |
GCSH | ENSG00000140905.11 | transcript | ENST00000315467.9 | protein_coding | 4360 | chr16 | TogoVar | ||||||
GC_chr4_71736697_71789079 | 71747526 | G | GGTATCAA others(19): Show |
intron_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0219 | 1 | 388 | 0.0026 | 26 | c.139 others(45): Show |
GC | ENSG00000145321.13 | transcript | ENST00000273951.13 | protein_coding | 11/12 | chr4 | TogoVar | ||||||
GDAP1L1_chr20_44242308_44285947 | 44281669 | T | TACACACA others(19): Show |
downstream_gene_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0093 | 1 | 392 | 0.0026 | 26 | c.*23 others(37): Show |
GDAP1L1 | ENSG00000124194.17 | transcript | ENST00000342560.10 | protein_coding | 723 | chr20 | TogoVar | ||||||
GDA_chr9_72144440_72257224 | 72198846 | G | GATAGATA others(19): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227 | 1 | 312 | 0.0032 | 26 | c.212 others(43): Show |
GDA | ENSG00000119125.17 | transcript | ENST00000358399.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
GDA_chr9_72144440_72257224 | 72198846 | G | GATATATA others(19): Show |
intron_variant | MODIFIER | NA19006.hp1 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0032 | a0001c0001t0001g0010a0001c0001t0032g0226 | 2 | 312 | 0.0064 | 26 | c.212 others(43): Show |
GDA | ENSG00000119125.17 | transcript | ENST00000358399.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
GDF6_chr8_96137333_96165806 | 96144244 | T | TAGAGAGA others(19): Show |
3_prime_UTR_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0002 | a0001c0002t0059 | a0001c0002t0059g0261 | 1 | 368 | 0.0027 | 26 | c.*31 others(35): Show |
GDF6 | ENSG00000156466.11 | transcript | ENST00000287020.7 | protein_coding | 2/2 | 318 | chr8 | TogoVar | |||||
GDF7_chr2_20662144_20684243 | 20663249 | T | TAAAAAAA others(19): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG01081.hp2 HG01261.hp2 |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0215a0001c0001t0217a0005c0007t0239 | a0001c0001t0215g0001a0001c0001t0217g0001a0005c0007t0239g0009 | 3 | 442 | 0.0068 | 26 | c.-39 others(37): Show |
GDF7 | ENSG00000143869.7 | transcript | ENST00000272224.5 | protein_coding | 3894 | chr2 | TogoVar | ||||||
GDPD1_chr17_59215511_59280970 | 59255774 | T | TACGCGTA others(19): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02145.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0019a0001c0001t0023 | a0001c0001t0008g0066a0001c0001t0008g0069a0001c0001t0008g0070others(6): Show | 9 | 312 | 0.0289 | 26 | c.368 others(43): Show |
GDPD1 | ENSG00000153982.11 | transcript | ENST00000284116.9 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
GDPD5_chr11_75429640_75530941 | 75512281 | G | GACACACA others(19): Show |
intron_variant | MODIFIER | HG00099.hp2 HG02258.hp2 HG03704.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0011 | a0001c0001t0001g0017a0001c0001t0001g0102a0001c0001t0003g0269others(1): Show | 4 | 322 | 0.0124 | 26 | c.-14 others(47): Show |
GDPD5 | ENSG00000158555.15 | transcript | ENST00000336898.8 | protein_coding | 1/16 | chr11 | TogoVar | ||||||
GEMIN2_chr14_39109323_39141973 | 39123708 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | NA19002.hp1 NA19003.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0279a0001c0001t0001g0280 | 2 | 424 | 0.0047 | 26 | c.486 others(43): Show |
GEMIN2 | ENSG00000092208.19 | transcript | ENST00000308317.12 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
GEMIN2_chr14_39109323_39141973 | 39123708 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02886.hp1 HG03927.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0265a0001c0001t0001g0267a0001c0001t0001g0323 | 3 | 424 | 0.0071 | 26 | c.486 others(43): Show |
GEMIN2 | ENSG00000092208.19 | transcript | ENST00000308317.12 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
GEN1_chr2_17749138_17793946 | 17778373 | C | CACATATG others(19): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0007 | a0007c0007 | a0007c0007t0032 | a0007c0007t0032g0107 | 1 | 318 | 0.0031 | 26 | c.126 others(43): Show |
GEN1 | ENSG00000178295.15 | transcript | ENST00000381254.7 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GET4_chr7_871554_901436 | 897667 | A | AGGGGGGG others(19): Show |
downstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0047 | 1 | 384 | 0.0026 | 26 | c.*22 others(37): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 1232 | chr7 | TogoVar | ||||||
GFI1_chr1_92468043_92491925 | 92481953 | G | GTGTGCGC others(19): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0009 | a0001c0009t0044 | a0001c0009t0044g0171 | 1 | 342 | 0.0029 | 26 | c.299 others(41): Show |
GFI1 | ENSG00000162676.13 | transcript | ENST00000294702.6 | protein_coding | 3/6 | chr1 | TogoVar | ||||||
GFOD1_chr6_13352830_13492600 | 13390780 | A | AGAAAGGA others(19): Show |
intron_variant | MODIFIER | HG02300.hp1 NA18948.hp1 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0093 | a0001c0001t0007g0094a0001c0001t0007g0147a0001c0001t0093g0087 | 3 | 230 | 0.0130 | 26 | c.254 others(45): Show |
GFOD1 | ENSG00000145990.11 | transcript | ENST00000379287.4 | protein_coding | 1/1 | chr6 | TogoVar | ||||||
GFOD2_chr16_67669536_67724316 | 67712280 | C | CCTCCCCC others(19): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0100 | 1 | 186 | 0.0054 | 26 | c.-88 others(43): Show |
GFOD2 | ENSG00000141098.13 | transcript | ENST00000268797.12 | protein_coding | 1/2 | chr16 | TogoVar | ||||||
GFPT2_chr5_180295698_180358336 | 180297458 | A | AAAAAAAA others(19): Show |
downstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0172 | 1 | 412 | 0.0024 | 26 | c.*41 others(37): Show |
GFPT2 | ENSG00000131459.13 | transcript | ENST00000253778.13 | protein_coding | 3239 | chr5 | TogoVar | ||||||
GFPT2_chr5_180295698_180358336 | 180297458 | A | AAAAAAAA others(19): Show |
downstream_gene_variant | MODIFIER | HG02615.hp2 NA18960.hp2 |
a0001 | a0001c0004a0001c0005 | a0001c0004t0004a0001c0005t0004 | a0001c0004t0004g0175a0001c0005t0004g0198 | 2 | 412 | 0.0049 | 26 | c.*41 others(37): Show |
GFPT2 | ENSG00000131459.13 | transcript | ENST00000253778.13 | protein_coding | 3239 | chr5 | TogoVar | ||||||
GFPT2_chr5_180295698_180358336 | 180297458 | A | AAAAAAAA others(19): Show |
downstream_gene_variant | MODIFIER | NA19055.hp2 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0129 | 1 | 412 | 0.0024 | 26 | c.*41 others(37): Show |
GFPT2 | ENSG00000131459.13 | transcript | ENST00000253778.13 | protein_coding | 3239 | chr5 | TogoVar |