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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GATAD2A_chr19_19400675_19513932 | 19440986 | T | TTTCCTTC others(2): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02630.hp1 HG02683.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002a0001c0002t0001g0231a0001c0002t0001g0243others(3): Show | 7 | 298 | 0.0235 | 9 | c.-6- others(26): Show |
GATAD2A | ENSG00000167491.18 | transcript | ENST00000683918.1 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
GATAD2A_chr19_19400675_19513932 | 19469431 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00673.hp1 HG01074.hp1 others(15): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0002g0009a0001c0001t0002g0038a0001c0001t0002g0041others(15): Show | 18 | 298 | 0.0604 | 9 | c.269 others(26): Show |
GATAD2A | ENSG00000167491.18 | transcript | ENST00000683918.1 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
GATAD2A_chr19_19400675_19513932 | 19510409 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG01081.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(8): Show | a0001c0001t0002g0168a0001c0001t0002g0178a0001c0001t0002g0180others(24): Show | 27 | 298 | 0.0906 | 9 | c.*49 others(20): Show |
GATAD2A | ENSG00000167491.18 | transcript | ENST00000683918.1 | protein_coding | 1478 | chr19 | TogoVar | ||||||
GATAD2B_chr1_153799725_153927972 | 153839108 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01069.hp2 HG02273.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0077a0001c0001t0002g0016a0001c0001t0004g0028others(12): Show | 15 | 349 | 0.0430 | 9 | c.-1- others(26): Show |
GATAD2B | ENSG00000143614.11 | transcript | ENST00000368655.5 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
GATAD2B_chr1_153799725_153927972 | 153876227 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01081.hp2 HG01255.hp1 others(22): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(9): Show | a0001c0001t0003g0122a0001c0001t0003g0124a0001c0001t0003g0126others(22): Show | 25 | 349 | 0.0716 | 9 | c.-2+ others(26): Show |
GATAD2B | ENSG00000143614.11 | transcript | ENST00000368655.5 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
GATB_chr4_151665504_151766007 | 151686652 | G | GCCCCGCC others(2): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00639.hp1 HG01074.hp1 others(20): Show |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0001a0006c0007t0002 | a0001c0001t0001g0054a0001c0001t0001g0056a0001c0001t0001g0061others(20): Show | 23 | 320 | 0.0719 | 9 | c.133 others(28): Show |
GATB | ENSG00000059691.12 | transcript | ENST00000263985.11 | protein_coding | 10/12 | chr4 | TogoVar | ||||||
GBE1_chr3_81484703_81766645 | 81593370 | C | CAATAATA others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00735.hp1 HG01069.hp1 others(40): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0002a0001c0001t0005a0001c0001t0015others(5): Show | a0001c0001t0002g0160a0001c0001t0002g0161a0001c0001t0002g0192others(40): Show | 43 | 304 | 0.1415 | 9 | c.110 others(26): Show |
GBE1 | ENSG00000114480.13 | transcript | ENST00000429644.7 | protein_coding | 8/15 | chr3 | TogoVar | ||||||
GBF1_chr10_102240532_102387896 | 102260473 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02280.hp1 HG02486.hp1 others(3): Show |
a0001a0006 | a0001c0004a0001c0021a0006c0011 | a0001c0004t0004a0001c0021t0004a0006c0011t0001 | a0001c0004t0004g0004a0001c0004t0004g0013a0001c0004t0004g0014others(3): Show | 6 | 330 | 0.0182 | 9 | c.163 others(24): Show |
GBF1 | ENSG00000107862.7 | transcript | ENST00000369983.5 | protein_coding | 3/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
GBF1_chr10_102240532_102387896 | 102293764 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02027.hp1 HG02109.hp2 others(9): Show |
a0001a0003a0008 | a0001c0001a0003c0005a0008c0012 | a0001c0001t0002a0003c0005t0002a0008c0012t0002 | a0001c0001t0002g0028a0001c0001t0002g0040a0001c0001t0002g0041others(9): Show | 12 | 330 | 0.0364 | 9 | c.163 others(28): Show |
GBF1 | ENSG00000107862.7 | transcript | ENST00000369983.5 | protein_coding | 3/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
GBGT1_chr9_133147948_133168914 | 133160281 | T | TATAATAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp2 others(84): Show |
a0001a0002a0023others(1): Show | a0001c0001a0001c0006a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0007a0001c0006t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0017others(25): Show | 87 | 446 | 0.1951 | 9 | c.137 others(26): Show |
GBGT1 | ENSG00000148288.13 | transcript | ENST00000372040.9 | protein_coding | 3/6 | chr9 | TogoVar | ||||||
GBP3_chr1_89001680_89027866 | 89021832 | A | AGAGAGAG others(2): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01070.hp2 HG02300.hp1 others(1): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0004 | a0001c0001t0001a0003c0003t0001a0004c0004t0001 | a0001c0001t0001g0165a0003c0003t0001g0071a0004c0004t0001g0069others(1): Show | 4 | 436 | 0.0092 | 9 | c.-23 others(24): Show |
GBP3 | ENSG00000117226.12 | transcript | ENST00000370481.9 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
GCA_chr2_162339132_162368123 | 162345093 | A | ATGGTGGT others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00738.hp2 HG01069.hp2 others(30): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0032others(13): Show | 33 | 366 | 0.0902 | 9 | c.27+ others(22): 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(2): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 3 | 366 | 0.0082 | 9 | c.27+ others(22): Show |
GCA | ENSG00000115271.11 | transcript | ENST00000437150.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GCK_chr7_44139275_44194439 | 44165345 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00597.hp2 HG00609.hp2 others(58): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0002a0001c0001t0001g0011a0001c0001t0001g0018others(48): Show | 61 | 392 | 0.1556 | 9 | c.46- others(26): Show |
GCK | ENSG00000106633.18 | transcript | ENST00000403799.8 | protein_coding | 1/9 | chr7 | TogoVar | ||||||
GCK_chr7_44139275_44194439 | 44174848 | C | CTCTTCTT others(2): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02622.hp2 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0264a0001c0001t0002g0168a0001c0001t0002g0317 | 3 | 392 | 0.0077 | 9 | c.45+ others(26): Show |
GCK | ENSG00000106633.18 | transcript | ENST00000403799.8 | protein_coding | 1/9 | chr7 | TogoVar | ||||||
GCK_chr7_44139275_44194439 | 44174854 | C | CTCTTCCT others(2): Show |
intron_variant | MODIFIER | HG00733.hp1 HG00738.hp1 HG01074.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0265a0001c0001t0002g0151a0001c0001t0002g0189others(7): Show | 12 | 392 | 0.0306 | 9 | c.45+ others(26): Show |
GCK | ENSG00000106633.18 | transcript | ENST00000403799.8 | protein_coding | 1/9 | chr7 | TogoVar | ||||||
GCK_chr7_44139275_44194439 | 44174854 | C | CTCTTCTT others(2): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01074.hp2 HG01978.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0101a0001c0001t0001g0120a0001c0001t0001g0164others(12): Show | 15 | 392 | 0.0383 | 9 | c.45+ others(26): Show |
GCK | ENSG00000106633.18 | transcript | ENST00000403799.8 | protein_coding | 1/9 | chr7 | TogoVar | ||||||
GCK_chr7_44139275_44194439 | 44174915 | T | TCTTCTTC others(2): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02135.hp1 NA18940.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0006a0001c0001t0002g0033a0001c0001t0002g0089others(4): Show | 8 | 392 | 0.0204 | 9 | c.45+ others(26): Show |
GCK | ENSG00000106633.18 | transcript | ENST00000403799.8 | protein_coding | 1/9 | chr7 | TogoVar | ||||||
GCLC_chr6_53492341_53550101 | 53544653 | C | CCCTCCTC others(2): Show |
5_prime_UTR_variant | MODIFIER | HG01884.hp1 HG02280.hp1 HG02486.hp1 others(7): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0012a0001c0001t0017a0001c0001t0029others(3): Show | a0001c0001t0012g0007a0001c0001t0012g0026a0001c0001t0012g0027others(6): Show | 10 | 426 | 0.0235 | 9 | c.-17 others(15): Show |
GCLC | ENSG00000001084.13 | transcript | ENST00000650454.1 | protein_coding | 1/16 | 9 | chr6 | TogoVar | |||||
GCM1_chr6_53121961_53153841 | 53128028 | C | CAAAAAAA others(2): Show |
3_prime_UTR_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG00639.hp2 others(65): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0002a0001c0001t0018a0001c0001t0029others(3): Show | a0001c0001t0002g0013a0001c0001t0002g0041a0001c0001t0002g0061others(64): Show | 68 | 412 | 0.1651 | 9 | c.*16 others(18): Show |
GCM1 | ENSG00000137270.11 | transcript | ENST00000259803.8 | protein_coding | 6/6 | 177 | chr6 | TogoVar | |||||
GCM2_chr6_10868223_10887041 | 10883180 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 HG02895.hp1 HG02896.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0003a0002c0003t0001 | a0001c0001t0001g0113a0001c0001t0003g0016a0001c0001t0003g0027others(3): Show | 8 | 426 | 0.0188 | 9 | c.-13 others(20): Show |
GCM2 | ENSG00000124827.7 | transcript | ENST00000379491.5 | protein_coding | 1140 | chr6 | TogoVar | ||||||
GCN1_chr12_120122202_120199715 | 120181465 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG01943.hp2 others(26): Show |
a0001a0004 | a0001c0001a0001c0004a0001c0005others(7): Show | a0001c0001t0001a0001c0004t0001a0001c0005t0001others(7): Show | a0001c0001t0001g0097a0001c0001t0001g0099a0001c0001t0001g0100others(26): Show | 29 | 312 | 0.0930 | 9 | c.426 others(26): Show |
GCN1 | ENSG00000089154.11 | transcript | ENST00000300648.7 | protein_coding | 5/57 | chr12 | TogoVar | ||||||
GCNT2_chr6_10516351_10634368 | 10539180 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01099.hp2 HG01175.hp1 others(23): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0020others(1): Show | a0001c0001t0001g0039a0001c0001t0001g0137a0001c0001t0001g0140others(23): Show | 26 | 324 | 0.0803 | 9 | c.925 others(26): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
GCNT3_chr15_59606783_59627723 | 59621586 | A | ATTTTTTT others(2): Show |
3_prime_UTR_variant | MODIFIER | HG04115.hp2 NA18953.hp1 NA19005.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0028a0001c0001t0067a0001c0001t0076others(3): Show | a0001c0001t0028g0003a0001c0001t0067g0003a0001c0001t0076g0003others(3): Show | 7 | 428 | 0.0164 | 9 | c.*20 others(20): Show |
GCNT3 | ENSG00000140297.13 | transcript | ENST00000396065.3 | protein_coding | 3/3 | 2037 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||
GCSH_chr16_81076945_81101395 | 81080667 | A | ATTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG02559.hp2 HG02970.hp2 HG03041.hp1 others(2): Show |
a0003 | a0003c0003 | a0003c0003t0004a0003c0003t0006 | a0003c0003t0004g0022a0003c0003t0006g0021a0003c0003t0006g0152 | 5 | 354 | 0.0141 | 9 | c.*21 others(20): Show |
GCSH | ENSG00000140905.11 | transcript | ENST00000315467.9 | protein_coding | 1277 | chr16 | TogoVar | ||||||
GCSH_chr16_81076945_81101395 | 81095377 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00558.hp2 NA18950.hp2 NA18979.hp2 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0007 | a0002c0002t0001g0007a0002c0002t0001g0055a0002c0002t0001g0056others(2): Show | 8 | 354 | 0.0226 | 9 | c.148 others(24): Show |
GCSH | ENSG00000140905.11 | transcript | ENST00000315467.9 | protein_coding | 1/4 | chr16 | TogoVar | ||||||
GC_chr4_71736697_71789079 | 71778891 | G | GTTATTAT others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00558.hp2 others(56): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(10): Show | a0001c0001t0001g0035a0001c0001t0002g0007a0001c0001t0002g0253others(44): Show | 59 | 388 | 0.1521 | 9 | c.58+ others(24): Show |
GC | ENSG00000145321.13 | transcript | ENST00000273951.13 | protein_coding | 1/12 | chr4 | TogoVar | ||||||
GC_chr4_71736697_71789079 | 71778891 | G | GTTATTGT others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(83): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(5): Show | a0001c0001t0001g0026a0001c0001t0001g0055a0001c0001t0001g0145others(72): Show | 86 | 388 | 0.2217 | 9 | c.58+ others(24): Show |
GC | ENSG00000145321.13 | transcript | ENST00000273951.13 | protein_coding | 1/12 | chr4 | TogoVar | ||||||
GDF10_chr10_47295197_47318577 | 47296866 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG01175.hp2 HG01256.hp1 HG01515.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0010a0001c0001t0001g0041a0001c0001t0001g0044others(8): Show | 20 | 398 | 0.0503 | 9 | c.-37 others(20): Show |
GDF10 | ENSG00000266524.3 | transcript | ENST00000580279.2 | protein_coding | 3330 | chr10 | TogoVar | ||||||
GDF3_chr12_7684784_7700775 | 7699407 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG01099.hp2 HG01106.hp2 HG01361.hp2 others(35): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(15): Show | 38 | 468 | 0.0812 | 9 | c.-36 others(20): Show |
GDF3 | ENSG00000184344.4 | transcript | ENST00000329913.4 | protein_coding | 3633 | chr12 | TogoVar | ||||||
GDF5_chr20_35428347_35443228 | 35438860 | T | TGTGTGTG others(2): Show |
upstream_gene_variant | MODIFIER | HG02004.hp2 HG02148.hp2 HG02300.hp1 others(2): Show |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0001a0001c0001t0002a0006c0007t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0002g0006others(1): Show | 5 | 360 | 0.0139 | 9 | c.-93 others(18): Show |
GDF5 | ENSG00000125965.9 | transcript | ENST00000374369.8 | protein_coding | 633 | chr20 | TogoVar | ||||||
GDF6_chr8_96137333_96165806 | 96144291 | A | AGAGAGAG others(2): Show |
3_prime_UTR_variant | MODIFIER | HG02257.hp2 NA19012.hp1 NA19062.hp1 |
a0001 | a0001c0001 | a0001c0001t0043a0001c0001t0072 | a0001c0001t0043g0037a0001c0001t0072g0222 | 3 | 368 | 0.0082 | 9 | c.*27 others(18): Show |
GDF6 | ENSG00000156466.11 | transcript | ENST00000287020.7 | protein_coding | 2/2 | 271 | chr8 | TogoVar | |||||
GDF7_chr2_20662144_20684243 | 20667362 | G | GGGCGGCG others(2): Show |
disruptive_inframe_insertion | MODERATE | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(329): Show |
a0001a0003a0014others(3): Show | a0001c0001a0001c0005a0001c0008others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(176): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0007others(190): Show | 332 | 442 | 0.7511 | 9 | c.141 others(16): Show |
p.Gly others(11): Show |
GDF7 | ENSG00000143869.7 | transcript | ENST00000272224.5 | protein_coding | 1/2 | 246/9267 | 150/1353 | 50/450 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
GDI1_chrX_154432154_154448467 | 154444203 | C | CCCGCCGC others(2): Show |
downstream_gene_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 283 | 0.0035 | 9 | c.*15 others(20): Show |
GDI1 | ENSG00000203879.12 | transcript | ENST00000447750.7 | protein_coding | 737 | chrX | TogoVar | ||||||
GDNF_chr5_37807677_37845041 | 37815487 | T | TTCCTCCT others(2): Show |
3_prime_UTR_variant | MODIFIER | HG00558.hp1 HG00738.hp1 HG03017.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0076a0001c0001t0077 | a0001c0001t0010g0021a0001c0001t0010g0046a0001c0001t0010g0084others(4): Show | 10 | 430 | 0.0233 | 9 | c.*15 others(18): Show |
GDNF | ENSG00000168621.15 | transcript | ENST00000326524.7 | protein_coding | 3/3 | 163 | chr5 | TogoVar | |||||
GDPD1_chr17_59215511_59280970 | 59261913 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01106.hp1 HG01109.hp2 others(37): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0003 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(11): Show | a0001c0001t0003g0277a0001c0001t0003g0279a0001c0001t0003g0280others(37): Show | 40 | 312 | 0.1282 | 9 | c.576 others(26): Show |
GDPD1 | ENSG00000153982.11 | transcript | ENST00000284116.9 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
GDPD1_chr17_59215511_59280970 | 59263483 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(284): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0033a0001c0001t0001g0037a0001c0001t0001g0039others(284): Show | 287 | 312 | 0.9199 | 9 | c.577 others(26): Show |
GDPD1 | ENSG00000153982.11 | transcript | ENST00000284116.9 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
GDPD2_chrX_70418314_70438381 | 70437149 | A | ATTATTTC others(2): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00642.hp1 HG00673.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0026 | 13 | 318 | 0.0409 | 9 | c.*40 others(20): Show |
GDPD2 | ENSG00000130055.14 | transcript | ENST00000374382.4 | protein_coding | 3769 | chrX | TogoVar | ||||||
GEMIN5_chr5_154882411_154943211 | 154907456 | T | TGAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(291): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0004a0001c0014others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(248): Show | 294 | 338 | 0.8698 | 9 | c.239 others(26): Show |
GEMIN5 | ENSG00000082516.9 | transcript | ENST00000285873.8 | protein_coding | 16/27 | chr5 | TogoVar | ||||||
GEMIN6_chr2_38773210_38790002 | 38779665 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG01975.hp2 HG02630.hp2 NA18957.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0017 | a0001c0001t0002g0040a0001c0001t0004g0067a0001c0001t0004g0068others(1): Show | 4 | 412 | 0.0097 | 9 | c.128 others(24): Show |
GEMIN6 | ENSG00000152147.11 | transcript | ENST00000281950.8 | protein_coding | 2/2 | chr2 | TogoVar | ||||||
GET1_chr21_39375326_39402889 | 39378587 | C | CTTTCTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG01175.hp2 HG02109.hp2 HG02145.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003a0001c0001t0002g0017a0001c0001t0002g0066 | 5 | 338 | 0.0148 | 9 | c.-17 others(20): Show |
GET1 | ENSG00000182093.16 | transcript | ENST00000649170.1 | protein_coding | 1738 | chr21 | TogoVar | ||||||
GFM2_chr5_74716206_74772117 | 74748927 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02165.hp1 HG02735.hp1 others(7): Show |
a0001a0003a0008 | a0001c0001a0003c0003a0008c0013 | a0001c0001t0001a0003c0003t0001a0008c0013t0001 | a0001c0001t0001g0100a0003c0003t0001g0039a0003c0003t0001g0281others(6): Show | 10 | 372 | 0.0269 | 9 | c.520 others(26): Show |
GFM2 | ENSG00000164347.18 | transcript | ENST00000296805.8 | protein_coding | 7/20 | chr5 | TogoVar | ||||||
GFOD1_chr6_13352830_13492600 | 13410614 | G | GAGAGAGA others(2): Show |
intron_variant | MODIFIER | HG01993.hp2 NA18969.hp2 |
a0001 | a0001c0001 | a0001c0001t0065a0001c0001t0135 | a0001c0001t0065g0058a0001c0001t0135g0205 | 2 | 230 | 0.0087 | 9 | c.254 others(28): Show |
GFOD1 | ENSG00000145990.11 | transcript | ENST00000379287.4 | protein_coding | 1/1 | chr6 | TogoVar | ||||||
GFPT1_chr2_69314780_69392227 | 69367344 | T | TTTGTTGT others(2): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG00609.hp1 others(42): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0026a0001c0002t0004a0001c0002t0006others(7): Show | a0001c0001t0026g0165a0001c0002t0004g0003a0001c0002t0004g0124others(39): Show | 45 | 366 | 0.1230 | 9 | c.223 others(26): Show |
GFPT1 | ENSG00000198380.13 | transcript | ENST00000357308.9 | protein_coding | 3/19 | chr2 | TogoVar | ||||||
GFRA1_chr10_116051925_116278206 | 116064085 | C | CATCATGA others(2): Show |
3_prime_UTR_variant | MODIFIER | HG02109.hp1 HG02723.hp2 HG02896.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0033a0001c0002t0033a0001c0002t0091 | a0001c0001t0033g0092a0001c0002t0033g0044a0001c0002t0091g0006 | 3 | 214 | 0.0140 | 9 | c.*31 others(18): Show |
GFRA1 | ENSG00000151892.16 | transcript | ENST00000355422.11 | protein_coding | 11/11 | 312 | chr10 | TogoVar | |||||
GFRA1_chr10_116051925_116278206 | 116257772 | G | GAGACAAA others(2): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02630.hp1 HG03471.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0031a0001c0001t0032a0002c0003t0001 | a0001c0001t0031g0134a0001c0001t0032g0085a0002c0003t0001g0133 | 3 | 214 | 0.0140 | 9 | c.418 others(28): Show |
GFRA1 | ENSG00000151892.16 | transcript | ENST00000355422.11 | protein_coding | 4/10 | chr10 | TogoVar | ||||||
GFRA1_chr10_116051925_116278206 | 116276222 | A | AATGATGA others(2): Show |
upstream_gene_variant | MODIFIER | HG02896.hp1 HG03471.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0033 | a0001c0001t0001g0090a0001c0001t0001g0091a0001c0001t0033g0092 | 3 | 214 | 0.0140 | 9 | c.-33 others(20): Show |
GFRA1 | ENSG00000151892.16 | transcript | ENST00000355422.11 | protein_coding | 3017 | chr10 | TogoVar | ||||||
GFRA2_chr8_21685398_21793875 | 21714246 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01258.hp2 HG02027.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0001g0023a0001c0001t0001g0039a0001c0001t0001g0064others(4): Show | 7 | 322 | 0.0217 | 9 | c.795 others(26): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 4/8 | chr8 | TogoVar | ||||||
GFRA3_chr5_138247380_138279621 | 138268284 | G | GAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01943.hp1 HG01975.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0068a0001c0001t0001g0328a0001c0001t0002g0261others(16): Show | 19 | 376 | 0.0505 | 9 | c.92- others(24): Show |
GFRA3 | ENSG00000146013.11 | transcript | ENST00000274721.8 | protein_coding | 1/7 | chr5 | TogoVar | ||||||
GFRAL_chr6_55322469_55407493 | 55395175 | A | AAATATAT others(2): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02109.hp1 HG02280.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0003 | a0001c0001t0003g0007a0002c0002t0003g0051a0002c0002t0003g0079others(3): Show | 7 | 386 | 0.0181 | 9 | c.953 others(26): Show |
GFRAL | ENSG00000187871.2 | transcript | ENST00000340465.2 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |