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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GGCT_chr7_30491621_30509829 | 30496315 | T | TACACACA others(17): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 HG01934.hp1 HG02083.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006 a0001c0001t0003g0019 a0001c0001t0003g0047 others(4): Show |
8 | 444 | 0.0180 | 24 | c.*77 others(33): Show |
GGCT | ENSG00000006625.18 | transcript | ENST00000275428.9 | protein_coding | 305 | chr7 | TogoVar | |||||||
GGNBP2_chr17_36539919_36594848 | 36548615 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02129.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0027 a0001c0002t0003g0028 |
2 | 357 | 0.0056 | 24 | c.93+ others(39): Show |
GGNBP2 | ENSG00000278311.5 | transcript | ENST00000613102.5 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GGN_chr19_38379267_38393034 | 38380723 | T | TGTGTGTG others(17): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00558.hp2 HG00597.hp2 others(42): Show |
a0002a0010a0014others(2): Show | a0002c0003a0002c0010a0010c0009others(3): Show | a0002c0003t0001a0002c0010t0001a0010c0009t0001others(4): Show | a0002c0003t0001g0004 a0002c0010t0001g0010 a0010c0009t0001g0015 others(4): Show |
45 | 392 | 0.1148 | 24 | c.*36 others(35): Show |
GGN | ENSG00000179168.15 | transcript | ENST00000334928.11 | protein_coding | 3543 | chr19 | TogoVar | |||||||
GGN_chr19_38379267_38393034 | 38385765 | A | AGCCGGGG others(17): Show |
disruptive_inframe_insertion | MODERATE | HG00438.hp1 HG00544.hp1 HG00609.hp1 others(79): Show |
a0003a0005a0006others(5): Show | a0003c0002a0003c0024a0005c0005others(7): Show | a0003c0002t0001a0003c0024t0001a0005c0005t0001others(7): Show | a0003c0002t0001g0003 a0003c0002t0001g0023 a0003c0024t0001g0029 others(9): Show |
82 | 392 | 0.2092 | 24 | c.149 others(33): Show |
p.Ala others(37): Show |
GGN | ENSG00000179168.15 | transcript | ENST00000334928.11 | protein_coding | 3/4 | 1637/2245 | 1496/1959 | 499/652 | chr19 | TogoVar | |||
GGT7_chr20_34839720_34877856 | 34845112 | T | TCACCACC others(17): Show |
3_prime_UTR_variant | MODIFIER | HG01934.hp2 HG02273.hp1 HG02523.hp1 others(3): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0010a0001c0001t0018a0001c0010t0010 | a0001c0001t0010g0076 a0001c0001t0010g0081 a0001c0001t0010g0085 others(3): Show |
6 | 354 | 0.0170 | 24 | c.*19 others(33): Show |
GGT7 | ENSG00000131067.17 | transcript | ENST00000336431.10 | protein_coding | 15/15 | 215 | chr20 | TogoVar | ||||||
GGT7_chr20_34839720_34877856 | 34855789 | C | CTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01074.hp2 HG01099.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0007a0001c0001t0008a0001c0001t0010others(6): Show | a0001c0001t0007g0042 a0001c0001t0007g0235 a0001c0001t0007g0252 others(9): Show |
14 | 354 | 0.0396 | 24 | c.110 others(41): Show |
GGT7 | ENSG00000131067.17 | transcript | ENST00000336431.10 | protein_coding | 8/14 | chr20 | TogoVar | |||||||
GGT7_chr20_34839720_34877856 | 34855814 | T | TGTGTGTG others(17): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG01361.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0017 a0001c0001t0002g0200 a0001c0001t0004g0154 others(4): Show |
11 | 354 | 0.0311 | 24 | c.110 others(41): Show |
GGT7 | ENSG00000131067.17 | transcript | ENST00000336431.10 | protein_coding | 8/14 | chr20 | TogoVar | |||||||
GHRHR_chr7_30958953_30984528 | 30968640 | C | CCCTTCCT others(17): Show |
intron_variant | MODIFIER | NA18981.hp2 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0068 | 1 | 422 | 0.0024 | 24 | c.58- others(37): Show |
GHRHR | ENSG00000106128.19 | transcript | ENST00000326139.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GHR_chr5_42418439_42726878 | 42419267 | T | TATATATA others(17): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00642.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0002a0001c0001t0028a0001c0004t0017others(2): Show | a0001c0001t0002g0035 a0001c0001t0002g0054 a0001c0001t0002g0055 others(7): Show |
10 | 210 | 0.0476 | 24 | c.-47 others(35): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 4171 | chr5 | TogoVar | |||||||
GHR_chr5_42418439_42726878 | 42474295 | G | GAGAAAGA others(17): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG02027.hp1 others(11): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0002a0002c0002t0001a0003c0003t0003others(1): Show | a0001c0001t0002g0056 a0001c0001t0002g0057 a0002c0002t0001g0088 others(11): Show |
14 | 210 | 0.0667 | 24 | c.-12 others(43): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GHR_chr5_42418439_42726878 | 42576099 | T | TAAAATAA others(17): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0112 | 1 | 210 | 0.0048 | 24 | c.70+ others(41): 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(17): Show |
intron_variant | MODIFIER | HG02886.hp1 HG03486.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0173 a0002c0002t0001g0110 |
2 | 210 | 0.0095 | 24 | c.70+ others(41): 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(17): Show |
intron_variant | MODIFIER | HG02922.hp2 NA19043.hp2 |
a0002a0003 | a0002c0002a0003c0005 | a0002c0002t0001a0003c0005t0002 | a0002c0002t0001g0159 a0003c0005t0002g0095 |
2 | 210 | 0.0095 | 24 | c.70+ others(41): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GHR_chr5_42418439_42726878 | 42576104 | A | AAAATAAA others(17): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0188 | 1 | 210 | 0.0048 | 24 | c.70+ others(41): 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(17): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02486.hp1 |
a0002a0003 | a0002c0002a0003c0006 | a0002c0002t0001a0003c0006t0009 | a0002c0002t0001g0167 a0003c0006t0009g0048 |
2 | 210 | 0.0095 | 24 | c.70+ others(41): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GHR_chr5_42418439_42726878 | 42650578 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01243.hp1 HG01516.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005 | a0001c0001t0002g0188 a0001c0001t0004g0157 a0001c0001t0005g0077 others(2): Show |
5 | 210 | 0.0238 | 24 | c.136 others(43): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GIGYF2_chr2_232692331_232865605 | 232711705 | G | GTATATAT others(17): Show |
intron_variant | MODIFIER | HG01123.hp2 HG02280.hp1 HG02602.hp2 others(11): Show |
a0002 | a0002c0001 | a0002c0001t0002a0002c0001t0004a0002c0001t0031others(1): Show | a0002c0001t0002g0030 a0002c0001t0002g0050 a0002c0001t0002g0067 others(11): Show |
14 | 376 | 0.0372 | 24 | c.-44 others(41): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GIGYF2_chr2_232692331_232865605 | 232836312 | A | AAATAAAT others(17): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0178 | 1 | 376 | 0.0027 | 24 | c.276 others(43): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 22/28 | chr2 | TogoVar | |||||||
GIMAP1_chr7_150711613_150729284 | 150727792 | C | CACACACA others(17): Show |
downstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0006 | 1 | 434 | 0.0023 | 24 | c.*68 others(35): Show |
GIMAP1 | ENSG00000213203.3 | transcript | ENST00000307194.6 | protein_coding | 3509 | chr7 | TogoVar | |||||||
GIMAP7_chr7_150509872_150526073 | 150524183 | C | CCGCTAAG others(17): Show |
downstream_gene_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0005 | 1 | 466 | 0.0022 | 24 | c.*33 others(35): Show |
GIMAP7 | ENSG00000179144.5 | transcript | ENST00000313543.5 | protein_coding | 3111 | chr7 | TogoVar | |||||||
GIMAP8_chr7_150445630_150484393 | 150452709 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0207 | 1 | 372 | 0.0027 | 24 | c.-29 others(41): Show |
GIMAP8 | ENSG00000171115.4 | transcript | ENST00000307271.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GIMAP8_chr7_150445630_150484393 | 150452709 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 372 | 0.0027 | 24 | c.-29 others(41): Show |
GIMAP8 | ENSG00000171115.4 | transcript | ENST00000307271.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GIN1_chr5_103081000_103125138 | 103117581 | T | TATATACA others(17): Show |
intron_variant | MODIFIER | HG01081.hp2 HG03098.hp2 HG06807.hp1 others(2): Show |
a0002 | a0002c0002a0002c0006 | a0002c0002t0002a0002c0006t0013 | a0002c0002t0002g0038 a0002c0002t0002g0150 a0002c0006t0013g0037 |
5 | 322 | 0.0155 | 24 | c.-8+ others(39): Show |
GIN1 | ENSG00000145723.17 | transcript | ENST00000399004.7 | protein_coding | 1/7 | chr5 | TogoVar | |||||||
GINS1_chr20_25402673_25453563 | 25442338 | A | ATCTGTCT others(17): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0335 | 1 | 360 | 0.0028 | 24 | c.522 others(39): Show |
GINS1 | ENSG00000101003.12 | transcript | ENST00000262460.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
GINS1_chr20_25402673_25453563 | 25443980 | T | TTATCTAT others(17): Show |
intron_variant | MODIFIER | HG01496.hp1 HG01943.hp1 NA18946.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0002 | a0001c0001t0001g0196 a0001c0001t0001g0209 a0001c0001t0001g0291 others(2): Show |
5 | 360 | 0.0139 | 24 | c.523 others(41): Show |
GINS1 | ENSG00000101003.12 | transcript | ENST00000262460.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
GINS2_chr16_85671198_85693954 | 85685670 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01981.hp2 NA18979.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0001t0036a0001c0002t0009 | a0001c0001t0012g0220 a0001c0001t0036g0268 a0001c0002t0009g0126 others(1): Show |
4 | 470 | 0.0085 | 24 | c.205 others(41): Show |
GINS2 | ENSG00000131153.9 | transcript | ENST00000253462.8 | protein_coding | 2/4 | chr16 | TogoVar | |||||||
GINS2_chr16_85671198_85693954 | 85685678 | A | AAAAAAAA others(17): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0100 | 1 | 470 | 0.0021 | 24 | c.205 others(41): Show |
GINS2 | ENSG00000131153.9 | transcript | ENST00000253462.8 | protein_coding | 2/4 | chr16 | TogoVar | |||||||
GINS2_chr16_85671198_85693954 | 85685685 | A | AAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02300.hp1 HG02738.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0012a0001c0001t0026others(4): Show | a0001c0001t0003g0118 a0001c0001t0003g0120 a0001c0001t0012g0219 others(6): Show |
10 | 470 | 0.0213 | 24 | c.205 others(41): Show |
GINS2 | ENSG00000131153.9 | transcript | ENST00000253462.8 | protein_coding | 2/4 | chr16 | TogoVar | |||||||
GINS4_chr8_41524261_41550030 | 41546849 | A | ATTTTTTT others(17): Show |
downstream_gene_variant | MODIFIER | HG01123.hp2 HG01981.hp2 HG02080.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0058 a0001c0001t0001g0105 |
5 | 426 | 0.0117 | 24 | c.*47 others(35): Show |
GINS4 | ENSG00000147536.12 | transcript | ENST00000276533.4 | protein_coding | 1820 | chr8 | TogoVar | |||||||
GIPC1_chr19_14472762_14501127 | 14485702 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0321 | 1 | 444 | 0.0023 | 24 | c.-30 others(41): Show |
GIPC1 | ENSG00000123159.16 | transcript | ENST00000393033.9 | protein_coding | 3/8 | chr19 | TogoVar | |||||||
GIPC1_chr19_14472762_14501127 | 14485702 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02300.hp1 NA19057.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0003a0001c0002t0006a0001c0003t0003 | a0001c0002t0003g0248 a0001c0002t0006g0330 a0001c0003t0003g0266 |
3 | 444 | 0.0068 | 24 | c.-30 others(41): Show |
GIPC1 | ENSG00000123159.16 | transcript | ENST00000393033.9 | protein_coding | 3/8 | chr19 | TogoVar | |||||||
GIPC1_chr19_14472762_14501127 | 14485702 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0331 | 1 | 444 | 0.0023 | 24 | c.-30 others(41): Show |
GIPC1 | ENSG00000123159.16 | transcript | ENST00000393033.9 | protein_coding | 3/8 | chr19 | TogoVar | |||||||
GIPC1_chr19_14472762_14501127 | 14485702 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0067 | 1 | 444 | 0.0023 | 24 | c.-30 others(41): Show |
GIPC1 | ENSG00000123159.16 | transcript | ENST00000393033.9 | protein_coding | 3/8 | chr19 | TogoVar | |||||||
GIPC1_chr19_14472762_14501127 | 14485702 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG02129.hp1 HG03486.hp2 NA20129.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0042a0001c0003t0017 | a0001c0002t0042g0293 a0001c0003t0017g0079 a0001c0003t0017g0110 |
3 | 444 | 0.0068 | 24 | c.-30 others(41): Show |
GIPC1 | ENSG00000123159.16 | transcript | ENST00000393033.9 | protein_coding | 3/8 | chr19 | TogoVar | |||||||
GIPC1_chr19_14472762_14501127 | 14485702 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0291 | 1 | 444 | 0.0023 | 24 | c.-30 others(41): Show |
GIPC1 | ENSG00000123159.16 | transcript | ENST00000393033.9 | protein_coding | 3/8 | chr19 | TogoVar | |||||||
GIPC1_chr19_14472762_14501127 | 14496041 | T | TCCGCCGC others(17): Show |
5_prime_UTR_variant | MODIFIER | HG02451.hp2 NA18967.hp2 NA18969.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0014a0001c0002t0014 | a0001c0001t0014g0371 a0001c0001t0014g0372 a0001c0001t0014g0373 others(1): Show |
4 | 444 | 0.0090 | 24 | c.-20 others(33): Show |
GIPC1 | ENSG00000123159.16 | transcript | ENST00000393033.9 | protein_coding | 1/9 | 13066 | chr19 | TogoVar | ||||||
GIP_chr17_48953554_48973596 | 48965138 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00741.hp2 HG01123.hp1 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0025 others(17): Show |
38 | 406 | 0.0936 | 24 | c.87- others(37): Show |
GIP | ENSG00000159224.4 | transcript | ENST00000357424.2 | protein_coding | 2/5 | chr17 | TogoVar | |||||||
GJA10_chr6_89889469_89901120 | 89898526 | A | ATTTTCTT others(17): Show |
downstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 386 | 0.0026 | 24 | c.*24 others(35): Show |
GJA10 | ENSG00000135355.4 | transcript | ENST00000369352.1 | protein_coding | 2407 | chr6 | TogoVar | |||||||
GJA1_chr6_121430646_121454727 | 121453596 | C | CTACATTA others(17): Show |
downstream_gene_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023 | 1 | 416 | 0.0024 | 24 | c.*56 others(35): Show |
GJA1 | ENSG00000152661.9 | transcript | ENST00000282561.4 | protein_coding | 3870 | chr6 | TogoVar | |||||||
GJA8_chr1_147897795_147914269 | 147899928 | A | AAAGAAAG others(17): Show |
upstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 472 | 0.0021 | 24 | c.-29 others(35): Show |
GJA8 | ENSG00000121634.6 | transcript | ENST00000369235.2 | protein_coding | 2866 | chr1 | TogoVar | |||||||
GJA9_chr1_38869069_38886587 | 38882338 | A | ATATATAT others(17): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG00621.hp1 HG03017.hp1 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0004 a0001c0003t0004g0037 a0001c0003t0004g0089 others(1): Show |
7 | 444 | 0.0158 | 24 | c.-10 others(35): Show |
GJA9 | ENSG00000131233.10 | transcript | ENST00000357771.5 | protein_coding | 752 | chr1 | TogoVar | |||||||
GJB2_chr13_20182470_20197938 | 20197464 | T | TAAAAAAA others(17): Show |
upstream_gene_variant | MODIFIER | HG03209.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0007 a0001c0001t0005g0010 |
2 | 420 | 0.0048 | 24 | c.-47 others(35): Show |
GJB2 | ENSG00000165474.8 | transcript | ENST00000382848.5 | protein_coding | 4527 | chr13 | TogoVar | |||||||
GJD2_chr15_34746032_34759998 | 34746277 | T | TATATATA others(17): Show |
downstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0025 | 1 | 446 | 0.0022 | 24 | c.*62 others(35): Show |
GJD2 | ENSG00000159248.5 | transcript | ENST00000290374.5 | protein_coding | 4754 | chr15 | TogoVar | |||||||
GKAP1_chr9_83734425_83822769 | 83746729 | A | AAAATTGT others(17): Show |
intron_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0253 | 1 | 336 | 0.0030 | 24 | c.904 others(41): Show |
GKAP1 | ENSG00000165113.13 | transcript | ENST00000376371.7 | protein_coding | 10/12 | chr9 | TogoVar | |||||||
GKAP1_chr9_83734425_83822769 | 83779466 | C | CACACACA others(17): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01071.hp2 HG01515.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0003g0011 others(17): Show |
21 | 336 | 0.0625 | 24 | c.585 others(39): Show |
GKAP1 | ENSG00000165113.13 | transcript | ENST00000376371.7 | protein_coding | 7/12 | chr9 | TogoVar | |||||||
GKAP1_chr9_83734425_83822769 | 83779503 | A | ATATATGT others(17): Show |
intron_variant | MODIFIER | HG01515.hp1 HG03704.hp2 NA19070.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 a0001c0001t0001g0124 a0001c0001t0001g0147 |
3 | 336 | 0.0089 | 24 | c.585 others(39): Show |
GKAP1 | ENSG00000165113.13 | transcript | ENST00000376371.7 | protein_coding | 7/12 | chr9 | TogoVar | |||||||
GKN1_chr2_68969636_68985976 | 68978271 | G | GGAAAGAA others(17): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0090 | 1 | 464 | 0.0022 | 24 | c.204 others(39): Show |
GKN1 | ENSG00000169605.7 | transcript | ENST00000377938.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GKN1_chr2_68969636_68985976 | 68978271 | G | GGAAGGAA others(17): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 464 | 0.0022 | 24 | c.204 others(39): Show |
GKN1 | ENSG00000169605.7 | transcript | ENST00000377938.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GKN1_chr2_68969636_68985976 | 68978294 | A | AAGAAAGA others(17): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0091 | 1 | 464 | 0.0022 | 24 | c.204 others(39): Show |
GKN1 | ENSG00000169605.7 | transcript | ENST00000377938.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GK_chrX_30648423_30736462 | 30704128 | T | TTATATAT others(17): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 286 | 0.0035 | 24 | c.851 others(41): Show |
GK | ENSG00000198814.14 | transcript | ENST00000427190.6 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar |