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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GGA2_chr16_23458542_23515494 | 23467387 | A | AACACACA others(11): Show |
3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG01928.hp1 others(11): Show |
a0002 | a0002c0002 | a0002c0002t0005a0002c0002t0045a0002c0002t0069others(3): Show | a0002c0002t0005g0189 a0002c0002t0005g0192 a0002c0002t0005g0197 others(11): Show |
14 | 254 | 0.0551 | 18 | c.*18 others(27): Show |
GGA2 | ENSG00000103365.15 | transcript | ENST00000309859.8 | protein_coding | 17/17 | 202 | chr16 | TogoVar | ||||||
GGA2_chr16_23458542_23515494 | 23511016 | C | CGTGTGTG others(11): Show |
upstream_gene_variant | MODIFIER | HG01255.hp2 NA18957.hp2 NA18986.hp2 |
a0002 | a0002c0002 | a0002c0002t0015a0002c0002t0017 | a0002c0002t0015g0194 a0002c0002t0015g0223 a0002c0002t0017g0181 |
3 | 254 | 0.0118 | 18 | c.-62 others(27): Show |
GGA2 | ENSG00000103365.15 | transcript | ENST00000309859.8 | protein_coding | 523 | chr16 | TogoVar | |||||||
GGA2_chr16_23458542_23515494 | 23511038 | T | TGTGTGTG others(11): Show |
upstream_gene_variant | MODIFIER | HG02257.hp1 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0222 | 1 | 254 | 0.0039 | 18 | c.-62 others(27): Show |
GGA2 | ENSG00000103365.15 | transcript | ENST00000309859.8 | protein_coding | 545 | chr16 | TogoVar | |||||||
GGA3_chr17_75231599_75266606 | 75248468 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0059 | 1 | 364 | 0.0028 | 18 | c.41- others(33): Show |
GGA3 | ENSG00000125447.18 | transcript | ENST00000537686.6 | protein_coding | 1/16 | chr17 | TogoVar | |||||||
GGCT_chr7_30491621_30509829 | 30496315 | T | TACACACA others(11): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG00741.hp2 HG02976.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0131 a0001c0001t0001g0183 a0001c0001t0003g0004 others(5): Show |
10 | 444 | 0.0225 | 18 | c.*77 others(27): Show |
GGCT | ENSG00000006625.18 | transcript | ENST00000275428.9 | protein_coding | 305 | chr7 | TogoVar | |||||||
GGCT_chr7_30491621_30509829 | 30498006 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG01256.hp1 NA18951.hp2 NA18979.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 a0001c0001t0001g0171 a0001c0001t0001g0197 |
6 | 444 | 0.0135 | 18 | c.424 others(33): Show |
GGCT | ENSG00000006625.18 | transcript | ENST00000275428.9 | protein_coding | 3/3 | chr7 | TogoVar | |||||||
GGCX_chr2_85539720_85566493 | 85554454 | T | TTTGTTGT others(11): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03098.hp1 HG03139.hp2 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0060 | a0002c0002t0002g0066 a0002c0002t0002g0087 a0002c0002t0060g0075 |
3 | 410 | 0.0073 | 18 | c.726 others(33): Show |
GGCX | ENSG00000115486.13 | transcript | ENST00000233838.9 | protein_coding | 6/14 | chr2 | TogoVar | |||||||
GGNBP2_chr17_36539919_36594848 | 36548615 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02135.hp2 HG04115.hp1 HG04204.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0041 a0001c0002t0003g0042 a0001c0002t0003g0043 others(1): Show |
4 | 357 | 0.0112 | 18 | c.93+ others(33): Show |
GGNBP2 | ENSG00000278311.5 | transcript | ENST00000613102.5 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GGNBP2_chr17_36539919_36594848 | 36568104 | C | CTCGTCAC others(11): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0231 | 1 | 357 | 0.0028 | 18 | c.641 others(33): Show |
GGNBP2 | ENSG00000278311.5 | transcript | ENST00000613102.5 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GGNBP2_chr17_36539919_36594848 | 36575648 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0260 | 1 | 357 | 0.0028 | 18 | c.642 others(35): Show |
GGNBP2 | ENSG00000278311.5 | transcript | ENST00000613102.5 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GGT5_chr22_24214660_24250082 | 24227666 | A | AGAAACCA others(11): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00597.hp1 others(67): Show |
a0002a0012 | a0002c0002a0002c0012a0012c0018 | a0002c0002t0001a0002c0002t0002a0002c0012t0001others(1): Show | a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0001g0017 others(58): Show |
70 | 420 | 0.1667 | 18 | c.902 others(33): Show |
GGT5 | ENSG00000099998.19 | transcript | ENST00000327365.10 | protein_coding | 6/11 | chr22 | TogoVar | |||||||
GGT7_chr20_34839720_34877856 | 34845112 | T | TCACCACC others(11): Show |
3_prime_UTR_variant | MODIFIER | HG02818.hp1 NA18974.hp1 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0056 a0001c0001t0012g0199 a0001c0001t0012g0241 |
3 | 354 | 0.0085 | 18 | c.*19 others(27): Show |
GGT7 | ENSG00000131067.17 | transcript | ENST00000336431.10 | protein_coding | 15/15 | 215 | chr20 | TogoVar | ||||||
GGT7_chr20_34839720_34877856 | 34855814 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00642.hp2 HG01106.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0023 a0001c0001t0001g0139 a0001c0001t0002g0037 others(14): Show |
19 | 354 | 0.0537 | 18 | c.110 others(35): Show |
GGT7 | ENSG00000131067.17 | transcript | ENST00000336431.10 | protein_coding | 8/14 | chr20 | TogoVar | |||||||
GGTA1_chr9_121450040_121504844 | 121496757 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01975.hp1 HG02055.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0018 a0001c0001t0002g0256 a0001c0001t0002g0257 others(8): Show |
12 | 338 | 0.0355 | 18 | c.-10 others(35): Show |
GGTA1 | ENSG00000204136.12 | transcript | ENST00000481799.6 | protein_coding | 1/5 | chr9 | TogoVar | |||||||
GH1_chr17_63912203_63923839 | 63912814 | T | TTTCTTTC others(11): Show |
downstream_gene_variant | MODIFIER | NA19055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 420 | 0.0024 | 18 | c.*44 others(29): Show |
GH1 | ENSG00000259384.7 | transcript | ENST00000323322.10 | protein_coding | 4388 | chr17 | TogoVar | |||||||
GHRHR_chr7_30958953_30984528 | 30967602 | T | TATCCATC others(11): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(225): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0002a0001c0008others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(138): Show |
228 | 422 | 0.5403 | 18 | c.58- others(33): Show |
GHRHR | ENSG00000106128.19 | transcript | ENST00000326139.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GHR_chr5_42418439_42726878 | 42424171 | A | AGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG02717.hp1 HG03540.hp2 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0004a0003c0006t0009 | a0001c0001t0004g0209 a0003c0006t0009g0208 |
2 | 210 | 0.0095 | 18 | c.-12 others(33): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GHR_chr5_42418439_42726878 | 42443958 | G | GATAGATA others(11): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0019 | 1 | 210 | 0.0048 | 18 | c.-12 others(37): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GHR_chr5_42418439_42726878 | 42474295 | G | GAAAGAAA others(11): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0093 | 1 | 210 | 0.0048 | 18 | c.-12 others(37): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GHR_chr5_42418439_42726878 | 42650578 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01361.hp1 others(1): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0002a0001c0008t0007 | a0001c0001t0002g0063 a0001c0001t0002g0103 a0001c0008t0007g0083 others(1): Show |
4 | 210 | 0.0191 | 18 | c.136 others(37): 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(11): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02132.hp1 HG02647.hp2 others(1): Show |
a0002 | a0002c0001 | a0002c0001t0002a0002c0001t0004a0002c0001t0016 | a0002c0001t0002g0055 a0002c0001t0004g0035 a0002c0001t0004g0085 others(1): Show |
4 | 376 | 0.0106 | 18 | c.-44 others(35): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GIGYF2_chr2_232692331_232865605 | 232711705 | G | GTGTGTAT others(11): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02895.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0233 a0001c0002t0001g0236 |
2 | 376 | 0.0053 | 18 | c.-44 others(35): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GIGYF2_chr2_232692331_232865605 | 232781287 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02738.hp1 HG04184.hp2 |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0003a0002c0001t0018a0002c0001t0031 | a0001c0003t0003g0139 a0002c0001t0018g0111 a0002c0001t0031g0125 |
3 | 376 | 0.0080 | 18 | c.533 others(35): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 8/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GIGYF2_chr2_232692331_232865605 | 232797489 | T | TTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0002 | a0002c0006 | a0002c0006t0028 | a0002c0006t0028g0369 | 1 | 376 | 0.0027 | 18 | c.163 others(37): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 14/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GIGYF2_chr2_232692331_232865605 | 232803674 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0186 | 1 | 376 | 0.0027 | 18 | c.164 others(37): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 14/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GIGYF2_chr2_232692331_232865605 | 232836399 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG02723.hp2 HG03139.hp1 HG03225.hp2 |
a0001 | a0001c0002a0001c0016 | a0001c0002t0014a0001c0016t0026 | a0001c0002t0014g0178 a0001c0002t0014g0179 a0001c0016t0026g0176 |
3 | 376 | 0.0080 | 18 | c.276 others(37): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 22/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GIMAP1_chr7_150711613_150729284 | 150727792 | C | CACACACA others(11): Show |
downstream_gene_variant | MODIFIER | HG06807.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0046 | a0001c0001t0018g0010 a0001c0001t0046g0010 |
2 | 434 | 0.0046 | 18 | c.*68 others(29): Show |
GIMAP1 | ENSG00000213203.3 | transcript | ENST00000307194.6 | protein_coding | 3509 | chr7 | TogoVar | |||||||
GIMAP2_chr7_150680706_150698641 | 150687105 | C | CGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0106 | 1 | 456 | 0.0022 | 18 | c.28+ others(29): Show |
GIMAP2 | ENSG00000106560.11 | transcript | ENST00000223293.10 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GIMAP8_chr7_150445630_150484393 | 150452675 | G | GATATATA others(11): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0007 | a0001c0007t0005 | a0001c0007t0005g0213 | 1 | 372 | 0.0027 | 18 | c.-29 others(35): 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(11): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0152 | 1 | 372 | 0.0027 | 18 | c.-29 others(35): 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(11): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 372 | 0.0027 | 18 | c.-29 others(35): 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(11): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 372 | 0.0027 | 18 | c.-29 others(35): Show |
GIMAP8 | ENSG00000171115.4 | transcript | ENST00000307271.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GINS1_chr20_25402673_25453563 | 25423452 | C | CTTTTCTT others(11): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0282 | 1 | 360 | 0.0028 | 18 | c.331 others(35): Show |
GINS1 | ENSG00000101003.12 | transcript | ENST00000262460.5 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
GINS2_chr16_85671198_85693954 | 85685670 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0276 | 1 | 470 | 0.0021 | 18 | c.205 others(35): Show |
GINS2 | ENSG00000131153.9 | transcript | ENST00000253462.8 | protein_coding | 2/4 | chr16 | TogoVar | |||||||
GIPC1_chr19_14472762_14501127 | 14485702 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0346 | 1 | 444 | 0.0023 | 18 | c.-30 others(35): Show |
GIPC1 | ENSG00000123159.16 | transcript | ENST00000393033.9 | protein_coding | 3/8 | chr19 | TogoVar | |||||||
GIPC1_chr19_14472762_14501127 | 14485702 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02451.hp2 |
a0001 | a0001c0002 | a0001c0002t0009a0001c0002t0014 | a0001c0002t0009g0349 a0001c0002t0014g0370 |
2 | 444 | 0.0045 | 18 | c.-30 others(35): Show |
GIPC1 | ENSG00000123159.16 | transcript | ENST00000393033.9 | protein_coding | 3/8 | chr19 | TogoVar | |||||||
GIPC1_chr19_14472762_14501127 | 14485702 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0347 | 1 | 444 | 0.0023 | 18 | c.-30 others(35): Show |
GIPC1 | ENSG00000123159.16 | transcript | ENST00000393033.9 | protein_coding | 3/8 | chr19 | TogoVar | |||||||
GIPC1_chr19_14472762_14501127 | 14485702 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0253 | 1 | 444 | 0.0023 | 18 | c.-30 others(35): Show |
GIPC1 | ENSG00000123159.16 | transcript | ENST00000393033.9 | protein_coding | 3/8 | chr19 | TogoVar | |||||||
GIPC1_chr19_14472762_14501127 | 14496041 | T | TCCGCCGC others(11): Show |
5_prime_UTR_variant | MODIFIER | HG02622.hp2 HG02886.hp2 NA19089.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0020a0001c0002t0020 | a0001c0001t0020g0364 a0001c0002t0020g0362 a0001c0002t0020g0363 |
3 | 444 | 0.0068 | 18 | c.-19 others(27): Show |
GIPC1 | ENSG00000123159.16 | transcript | ENST00000393033.9 | protein_coding | 1/9 | 13066 | chr19 | TogoVar | ||||||
GIPC1_chr19_14472762_14501127 | 14496062 | G | GCCGCCGC others(11): Show |
5_prime_UTR_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0003 | a0001c0003t0031 | a0001c0003t0031g0042 | 1 | 444 | 0.0023 | 18 | c.-21 others(27): Show |
GIPC1 | ENSG00000123159.16 | transcript | ENST00000393033.9 | protein_coding | 1/9 | 13087 | chr19 | TogoVar | ||||||
GIPC3_chr19_3580478_3598541 | 3587668 | T | TTTTTTCC others(11): Show |
intron_variant | MODIFIER | HG02970.hp1 HG02976.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0026 | 3 | 430 | 0.0070 | 18 | c.592 others(33): Show |
GIPC3 | ENSG00000179855.9 | transcript | ENST00000644452.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GIPC3_chr19_3580478_3598541 | 3587678 | C | CTTTTTTC others(11): Show |
intron_variant | MODIFIER | HG04184.hp1 NA19076.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0067 a0001c0001t0003g0066 |
2 | 430 | 0.0047 | 18 | c.592 others(33): 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(11): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00738.hp2 HG01168.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0036 a0001c0001t0001g0062 a0001c0001t0002g0037 others(4): Show |
8 | 430 | 0.0186 | 18 | c.592 others(33): 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(11): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0019 | 1 | 430 | 0.0023 | 18 | c.*81 others(29): Show |
GIPC3 | ENSG00000179855.9 | transcript | ENST00000644452.3 | protein_coding | 4805 | chr19 | TogoVar | |||||||
GIPR_chr19_45663221_45688722 | 45683036 | G | GAGGATTT others(11): Show |
3_prime_UTR_variant | MODIFIER | NA19077.hp1 | a0002 | a0002c0002 | a0002c0002t0025 | a0002c0002t0025g0230 | 1 | 416 | 0.0024 | 18 | c.*11 others(29): Show |
GIPR | ENSG00000010310.9 | transcript | ENST00000590918.6 | protein_coding | 14/14 | 1121 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
GJA8_chr1_147897795_147914269 | 147899925 | G | GAGAAAGA others(11): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 HG02004.hp1 HG02735.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0003 a0001c0001t0001g0041 a0001c0002t0001g0003 others(1): Show |
12 | 472 | 0.0254 | 18 | c.-29 others(29): Show |
GJA8 | ENSG00000121634.6 | transcript | ENST00000369235.2 | protein_coding | 2869 | chr1 | TogoVar | |||||||
GJA9_chr1_38869069_38886587 | 38882338 | A | ATATTTAC others(11): Show |
upstream_gene_variant | MODIFIER | HG01934.hp2 HG02040.hp2 NA18747.hp2 |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0004 | 3 | 444 | 0.0068 | 18 | c.-10 others(29): Show |
GJA9 | ENSG00000131233.10 | transcript | ENST00000357771.5 | protein_coding | 752 | chr1 | TogoVar | |||||||
GJB1_chrX_71218224_71230516 | 71220142 | C | CTTTTTTT others(11): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG01109.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0007g0005 |
19 | 328 | 0.0579 | 18 | c.-32 others(29): Show |
GJB1 | ENSG00000169562.13 | transcript | ENST00000361726.7 | protein_coding | 3081 | chrX | TogoVar | |||||||
GJB2_chr13_20182470_20197938 | 20197464 | T | TAAAAAAA others(11): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG01256.hp2 HG02080.hp1 others(16): Show |
a0001a0004a0005others(1): Show | a0001c0001a0004c0004a0005c0005others(1): Show | a0001c0001t0001a0004c0004t0001a0005c0005t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0040 others(5): Show |
19 | 420 | 0.0452 | 18 | c.-47 others(29): Show |
GJB2 | ENSG00000165474.8 | transcript | ENST00000382848.5 | protein_coding | 4527 | chr13 | TogoVar | |||||||
GJC1_chr17_44793448_44835287 | 44808428 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0051 | 1 | 380 | 0.0026 | 18 | c.-96 others(33): Show |
GJC1 | ENSG00000182963.11 | transcript | ENST00000592524.6 | protein_coding | 1/2 | chr17 | TogoVar |