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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GFOD1_chr6_13352830_13492600 | 13354200 | A | AAAAAATA others(8): Show |
downstream_gene_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0032 | 1 | 230 | 0.0044 | 15 | c.*10 others(28): Show |
GFOD1 | ENSG00000145990.11 | transcript | ENST00000379287.4 | protein_coding | 3629 | chr6 | TogoVar | |||||||
GFOD1_chr6_13352830_13492600 | 13373741 | A | ACACACAC others(8): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0012 | 1 | 230 | 0.0044 | 15 | c.254 others(32): Show |
GFOD1 | ENSG00000145990.11 | transcript | ENST00000379287.4 | protein_coding | 1/1 | chr6 | TogoVar | |||||||
GFOD1_chr6_13352830_13492600 | 13409088 | G | GAAAGAAA others(8): Show |
intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0142 | a0001c0001t0142g0229 | 1 | 230 | 0.0044 | 15 | c.254 others(34): Show |
GFOD1 | ENSG00000145990.11 | transcript | ENST00000379287.4 | protein_coding | 1/1 | chr6 | TogoVar | |||||||
GFPT2_chr5_180295698_180358336 | 180297458 | A | AAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 NA18943.hp1 NA18951.hp1 others(6): Show |
a0001 | a0001c0005 | a0001c0005t0005a0001c0005t0008 | a0001c0005t0005g0023 a0001c0005t0005g0029 a0001c0005t0005g0032 others(6): Show |
9 | 412 | 0.0218 | 15 | c.*41 others(26): Show |
GFPT2 | ENSG00000131459.13 | transcript | ENST00000253778.13 | protein_coding | 3239 | chr5 | TogoVar | |||||||
GFPT2_chr5_180295698_180358336 | 180312036 | G | GAGGACCA others(8): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 412 | 0.0024 | 15 | c.154 others(32): Show |
GFPT2 | ENSG00000131459.13 | transcript | ENST00000253778.13 | protein_coding | 15/18 | chr5 | TogoVar | |||||||
GFRA2_chr8_21685398_21793875 | 21711682 | G | GTTTTTCT others(8): Show |
intron_variant | MODIFIER | HG02451.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007 | a0001c0001t0006g0036 a0001c0001t0007g0063 |
2 | 322 | 0.0062 | 15 | c.795 others(32): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 4/8 | chr8 | TogoVar | |||||||
GFRA2_chr8_21685398_21793875 | 21711689 | T | TTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02056.hp2 NA18944.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0004a0001c0004t0004a0001c0004t0018others(4): Show | a0001c0001t0004g0218 a0001c0004t0004g0258 a0001c0004t0018g0116 others(8): Show |
11 | 322 | 0.0342 | 15 | c.795 others(32): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 4/8 | chr8 | TogoVar | |||||||
GFRA2_chr8_21685398_21793875 | 21757506 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02818.hp2 HG02896.hp2 others(5): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0013 | a0001c0001t0005a0001c0001t0006a0001c0001t0036others(2): Show | a0001c0001t0005g0192 a0001c0001t0005g0231 a0001c0001t0006g0036 others(5): Show |
8 | 322 | 0.0248 | 15 | c.440 others(32): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
GFRA3_chr5_138247380_138279621 | 138271907 | T | TGTGTGTG others(8): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0342 | 1 | 376 | 0.0027 | 15 | c.91+ others(30): Show |
GFRA3 | ENSG00000146013.11 | transcript | ENST00000274721.8 | protein_coding | 1/7 | chr5 | TogoVar | |||||||
GFRA3_chr5_138247380_138279621 | 138271909 | T | TGTGTGTG others(8): Show |
intron_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0312 | 1 | 376 | 0.0027 | 15 | c.91+ others(30): Show |
GFRA3 | ENSG00000146013.11 | transcript | ENST00000274721.8 | protein_coding | 1/7 | chr5 | TogoVar | |||||||
GFRA3_chr5_138247380_138279621 | 138271911 | T | TGTGTGTG others(8): Show |
intron_variant | MODIFIER | NA19089.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0296 | 1 | 376 | 0.0027 | 15 | c.91+ others(30): Show |
GFRA3 | ENSG00000146013.11 | transcript | ENST00000274721.8 | protein_coding | 1/7 | chr5 | TogoVar | |||||||
GFRA4_chr20_3654248_3668399 | 3667874 | A | ACCAACCA others(8): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 450 | 0.0022 | 15 | c.-44 others(26): Show |
GFRA4 | ENSG00000125861.16 | transcript | ENST00000290417.7 | protein_coding | 4476 | chr20 | TogoVar | |||||||
GFRAL_chr6_55322469_55407493 | 55335895 | C | CTTTATTT others(8): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01243.hp1 HG02257.hp1 others(12): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0003a0002c0002t0001a0002c0002t0003others(4): Show | a0001c0001t0003g0214 a0001c0001t0003g0216 a0002c0002t0001g0097 others(12): Show |
15 | 386 | 0.0389 | 15 | c.316 others(32): Show |
GFRAL | ENSG00000187871.2 | transcript | ENST00000340465.2 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GGA3_chr17_75231599_75266606 | 75248468 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01257.hp1 HG01361.hp2 others(9): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0122 a0001c0001t0001g0210 a0001c0001t0002g0006 others(5): Show |
12 | 364 | 0.0330 | 15 | c.41- others(30): Show |
GGA3 | ENSG00000125447.18 | transcript | ENST00000537686.6 | protein_coding | 1/16 | chr17 | TogoVar | |||||||
GGACT_chr13_100525180_100593789 | 100543197 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02451.hp2 HG02922.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0024 a0001c0001t0005g0027 a0001c0001t0005g0028 others(1): Show |
4 | 376 | 0.0106 | 15 | c.-10 others(34): Show |
GGACT | ENSG00000134864.11 | transcript | ENST00000683975.1 | protein_coding | 2/2 | chr13 | TogoVar | |||||||
GGCX_chr2_85539720_85566493 | 85554454 | T | TTTGTTGT others(8): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02257.hp1 HG02723.hp1 others(5): Show |
a0002 | a0002c0002a0002c0011 | a0002c0002t0002a0002c0002t0057a0002c0002t0058others(4): Show | a0002c0002t0002g0033 a0002c0002t0057g0072 a0002c0002t0058g0073 others(4): Show |
8 | 410 | 0.0195 | 15 | c.726 others(30): Show |
GGCX | ENSG00000115486.13 | transcript | ENST00000233838.9 | protein_coding | 6/14 | chr2 | TogoVar | |||||||
GGNBP2_chr17_36539919_36594848 | 36548615 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01192.hp1 NA19063.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0048 a0001c0002t0003g0049 |
2 | 357 | 0.0056 | 15 | c.93+ others(30): Show |
GGNBP2 | ENSG00000278311.5 | transcript | ENST00000613102.5 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GGN_chr19_38379267_38393034 | 38385398 | T | TCCTGTCG others(8): Show |
intron_variant | MODIFIER | NA18989.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0023 | 1 | 392 | 0.0026 | 15 | c.184 others(30): Show |
GGN | ENSG00000179168.15 | transcript | ENST00000334928.11 | protein_coding | 3/3 | chr19 | TogoVar | |||||||
GGT5_chr22_24214660_24250082 | 24228048 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0002 | a0002c0029 | a0002c0029t0002 | a0002c0029t0002g0308 | 1 | 420 | 0.0024 | 15 | c.902 others(32): Show |
GGT5 | ENSG00000099998.19 | transcript | ENST00000327365.10 | protein_coding | 6/11 | chr22 | TogoVar | |||||||
GGT7_chr20_34839720_34877856 | 34845112 | T | TCACCACC others(8): Show |
3_prime_UTR_variant | MODIFIER | HG00738.hp2 NA18946.hp2 NA18967.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0011a0001c0002t0011 | a0001c0001t0011g0058 a0001c0002t0011g0216 a0001c0002t0011g0226 others(1): Show |
4 | 354 | 0.0113 | 15 | c.*20 others(24): Show |
GGT7 | ENSG00000131067.17 | transcript | ENST00000336431.10 | protein_coding | 15/15 | 215 | chr20 | TogoVar | ||||||
GGTA1_chr9_121450040_121504844 | 121480061 | C | CTTTTCTT others(8): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp1 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0276 others(32): Show |
37 | 338 | 0.1095 | 15 | c.-9- others(32): Show |
GGTA1 | ENSG00000204136.12 | transcript | ENST00000481799.6 | protein_coding | 1/5 | chr9 | TogoVar | |||||||
GHDC_chr17_42184087_42199494 | 42197014 | T | TAAATAAA others(8): Show |
upstream_gene_variant | MODIFIER | HG01123.hp2 HG02683.hp2 HG02738.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0016 |
9 | 374 | 0.0241 | 15 | c.-27 others(26): Show |
GHDC | ENSG00000167925.17 | transcript | ENST00000587427.6 | protein_coding | 2521 | chr17 | TogoVar | |||||||
GHR_chr5_42418439_42726878 | 42576046 | T | TAATAAAA others(8): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01169.hp1 HG01261.hp1 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0004a0001c0004t0031a0002c0002t0001others(5): Show | a0001c0001t0004g0129 a0001c0004t0031g0117 a0002c0002t0001g0090 others(8): Show |
11 | 210 | 0.0524 | 15 | c.70+ others(32): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GHR_chr5_42418439_42726878 | 42576099 | T | TAAAATAA others(8): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01074.hp2 HG01884.hp2 others(9): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0008others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0002g0021 a0001c0001t0004g0199 a0001c0001t0004g0200 others(9): Show |
12 | 210 | 0.0571 | 15 | c.70+ others(32): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GHR_chr5_42418439_42726878 | 42576099 | T | TAAAATAA others(8): Show |
intron_variant | MODIFIER | HG00735.hp2 NA21309.hp1 |
a0002a0003 | a0002c0002a0003c0005 | a0002c0002t0006a0003c0005t0002 | a0002c0002t0006g0184 a0003c0005t0002g0169 |
2 | 210 | 0.0095 | 15 | c.70+ others(32): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GHR_chr5_42418439_42726878 | 42576123 | T | TAATAAAA others(8): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02145.hp1 HG02630.hp2 others(1): Show |
a0002a0006 | a0002c0002a0006c0010 | a0002c0002t0006a0006c0010t0019 | a0002c0002t0006g0047 a0002c0002t0006g0049 a0006c0010t0019g0102 others(1): Show |
4 | 210 | 0.0191 | 15 | c.70+ others(32): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GHR_chr5_42418439_42726878 | 42588526 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0098 | 1 | 210 | 0.0048 | 15 | c.70+ others(32): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GIGYF1_chr7_100674507_100699250 | 100694312 | A | ACCGCCGC others(8): Show |
upstream_gene_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0031 | 1 | 398 | 0.0025 | 15 | c.-13 others(26): Show |
GIGYF1 | ENSG00000146830.11 | transcript | ENST00000678049.1 | protein_coding | 63 | chr7 | TogoVar | |||||||
GIGYF2_chr2_232692331_232865605 | 232803674 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02896.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0187 a0001c0002t0001g0189 |
2 | 376 | 0.0053 | 15 | c.164 others(34): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 14/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GIMAP8_chr7_150445630_150484393 | 150446059 | A | ATTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 372 | 0.0027 | 15 | c.-51 others(26): Show |
GIMAP8 | ENSG00000171115.4 | transcript | ENST00000307271.4 | protein_coding | 4570 | chr7 | TogoVar | |||||||
GINS2_chr16_85671198_85693954 | 85671439 | C | CAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | NA18522.hp1 | a0003 | a0003c0008 | a0003c0008t0023 | a0003c0008t0023g0230 | 1 | 470 | 0.0021 | 15 | c.*67 others(26): Show |
GINS2 | ENSG00000131153.9 | transcript | ENST00000253462.8 | protein_coding | 4758 | chr16 | TogoVar | |||||||
GINS3_chr16_58387471_58411147 | 58410444 | T | TTTTAATT others(8): Show |
downstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0080 | 1 | 434 | 0.0023 | 15 | c.*57 others(26): Show |
GINS3 | ENSG00000181938.14 | transcript | ENST00000318129.6 | protein_coding | 4298 | chr16 | TogoVar | |||||||
GINS4_chr8_41524261_41550030 | 41546849 | A | ATTTTTTT others(8): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 HG03490.hp2 NA19057.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0057 a0001c0001t0002g0113 a0001c0001t0002g0171 |
3 | 426 | 0.0070 | 15 | c.*47 others(26): Show |
GINS4 | ENSG00000147536.12 | transcript | ENST00000276533.4 | protein_coding | 1820 | chr8 | TogoVar | |||||||
GIPC1_chr19_14472762_14501127 | 14496041 | T | TCCGCCGC others(8): Show |
5_prime_UTR_variant | MODIFIER | HG02615.hp1 HG03041.hp2 |
a0001 | a0001c0002 | a0001c0002t0053a0001c0002t0054 | a0001c0002t0053g0361 a0001c0002t0054g0360 |
2 | 444 | 0.0045 | 15 | c.-19 others(24): Show |
GIPC1 | ENSG00000123159.16 | transcript | ENST00000393033.9 | protein_coding | 1/9 | 13066 | chr19 | TogoVar | ||||||
GIPC1_chr19_14472762_14501127 | 14496064 | C | CGCCGCCG others(8): Show |
5_prime_UTR_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0002 | a0001c0002t0030 | a0001c0002t0030g0041 | 1 | 444 | 0.0023 | 15 | c.-20 others(24): Show |
GIPC1 | ENSG00000123159.16 | transcript | ENST00000393033.9 | protein_coding | 1/9 | 13089 | chr19 | TogoVar | ||||||
GIPC3_chr19_3580478_3598541 | 3587658 | T | TTTCTTTT others(8): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0049 | 1 | 430 | 0.0023 | 15 | c.592 others(30): Show |
GIPC3 | ENSG00000179855.9 | transcript | ENST00000644452.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GIPC3_chr19_3580478_3598541 | 3587695 | C | CTTTTTTC others(8): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0089 | 1 | 430 | 0.0023 | 15 | c.592 others(30): Show |
GIPC3 | ENSG00000179855.9 | transcript | ENST00000644452.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GIPC3_chr19_3580478_3598541 | 3598345 | C | CTTTTTTT others(8): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0095 | 1 | 430 | 0.0023 | 15 | c.*81 others(26): Show |
GIPC3 | ENSG00000179855.9 | transcript | ENST00000644452.3 | protein_coding | 4805 | chr19 | TogoVar | |||||||
GIT2_chr12_109924804_110001368 | 109953024 | G | GCAGCTTT others(8): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01069.hp1 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0213 a0001c0001t0012g0214 |
2 | 242 | 0.0083 | 15 | c.124 others(30): Show |
GIT2 | ENSG00000139436.22 | transcript | ENST00000355312.8 | protein_coding | 13/19 | chr12 | TogoVar | |||||||
GJA10_chr6_89889469_89901120 | 89898084 | T | TCTTTCCT others(8): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG01123.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0000 a0001c0001t0002g0000 |
12 | 386 | 0.0311 | 15 | c.*19 others(26): Show |
GJA10 | ENSG00000135355.4 | transcript | ENST00000369352.1 | protein_coding | 1965 | chr6 | TogoVar | |||||||
GJA10_chr6_89889469_89901120 | 89898121 | T | TTTCCCTT others(8): Show |
downstream_gene_variant | MODIFIER | HG02451.hp2 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 2 | 386 | 0.0052 | 15 | c.*20 others(26): Show |
GJA10 | ENSG00000135355.4 | transcript | ENST00000369352.1 | protein_coding | 2002 | chr6 | TogoVar | |||||||
GJA10_chr6_89889469_89901120 | 89898161 | T | TTTCCTTT others(8): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 386 | 0.0026 | 15 | c.*20 others(26): Show |
GJA10 | ENSG00000135355.4 | transcript | ENST00000369352.1 | protein_coding | 2042 | chr6 | TogoVar | |||||||
GJA4_chr1_34787999_34800747 | 34796136 | T | TCAGATGG others(8): Show |
downstream_gene_variant | MODIFIER | HG00741.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0001 | 1 | 416 | 0.0024 | 15 | c.*92 others(24): Show |
GJA4 | ENSG00000187513.9 | transcript | ENST00000342280.5 | protein_coding | 390 | chr1 | TogoVar | |||||||
GJA4_chr1_34787999_34800747 | 34799038 | G | GGCCACTG others(8): Show |
downstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0002 | 1 | 416 | 0.0024 | 15 | c.*38 others(26): Show |
GJA4 | ENSG00000187513.9 | transcript | ENST00000342280.5 | protein_coding | 3292 | chr1 | TogoVar | |||||||
GJA4_chr1_34787999_34800747 | 34799728 | C | CACTCCAG others(8): Show |
downstream_gene_variant | MODIFIER | HG02922.hp2 | a0006 | a0006c0010 | a0006c0010t0003 | a0006c0010t0003g0003 | 1 | 416 | 0.0024 | 15 | c.*45 others(26): Show |
GJA4 | ENSG00000187513.9 | transcript | ENST00000342280.5 | protein_coding | 3982 | chr1 | TogoVar | |||||||
GJA8_chr1_147897795_147914269 | 147899984 | A | AAAGAAAG others(8): Show |
upstream_gene_variant | MODIFIER | HG02257.hp2 NA18949.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0010 |
2 | 472 | 0.0042 | 15 | c.-28 others(26): Show |
GJA8 | ENSG00000121634.6 | transcript | ENST00000369235.2 | protein_coding | 2810 | chr1 | TogoVar | |||||||
GJB1_chrX_71218224_71230516 | 71220142 | C | CTTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG00558.hp2 HG00639.hp2 HG01168.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 16 | 328 | 0.0488 | 15 | c.-32 others(26): Show |
GJB1 | ENSG00000169562.13 | transcript | ENST00000361726.7 | protein_coding | 3081 | chrX | TogoVar | |||||||
GJB2_chr13_20182470_20197938 | 20197464 | T | TAAAAAAA others(8): Show |
upstream_gene_variant | MODIFIER | HG02145.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0005 a0001c0001t0004g0007 |
2 | 420 | 0.0048 | 15 | c.-47 others(26): Show |
GJB2 | ENSG00000165474.8 | transcript | ENST00000382848.5 | protein_coding | 4527 | chr13 | TogoVar | |||||||
GJB4_chr1_34754740_34767327 | 34756713 | T | TTGGTCAT others(8): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(280): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0008a0001c0013others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(41): Show |
283 | 462 | 0.6126 | 15 | c.-33 others(26): Show |
GJB4 | ENSG00000189433.7 | transcript | ENST00000339480.3 | protein_coding | 3026 | chr1 | TogoVar | |||||||
GJB5_chr1_34750047_34763512 | 34756713 | T | TTGGTCAT others(8): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp2 others(274): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(13): Show | a0001c0001t0003g0002 a0001c0001t0003g0004 a0001c0001t0003g0006 others(25): Show |
277 | 468 | 0.5919 | 15 | c.-24 others(30): Show |
GJB5 | ENSG00000189280.3 | transcript | ENST00000338513.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |