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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GLI4_chr8_143262445_143281931 | 143268838 | T | TGCTGCTG others(19): Show |
intron_variant | MODIFIER | HG02602.hp2 NA18944.hp1 |
a0002 | a0002c0001 | a0002c0001t0001a0002c0001t0007 | a0002c0001t0001g0084 a0002c0001t0007g0083 |
2 | 381 | 0.0052 | 26 | c.-37 others(41): Show |
GLI4 | ENSG00000250571.7 | transcript | ENST00000340042.2 | protein_coding | 1/3 | chr8 | TogoVar | |||||||
GLIS1_chr1_53501239_53744164 | 53709409 | T | TACATATA others(19): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(74): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0005a0002c0002others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(35): Show | a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0110 others(74): Show |
77 | 221 | 0.3484 | 26 | c.259 others(45): Show |
GLIS1 | ENSG00000174332.6 | transcript | ENST00000628545.2 | protein_coding | 2/10 | chr1 | TogoVar | |||||||
GLIS3_chr9_3819127_4305068 | 3896670 | T | TAATTAAA others(19): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0049 | 1 | 3 | 0.3333 | 26 | c.212 others(45): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 7/10 | chr9 | TogoVar | |||||||
GLIS3_chr9_3819127_4305068 | 3953795 | C | CTCTCTCT others(19): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0091 | 1 | 151 | 0.0066 | 26 | c.171 others(47): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 4/10 | chr9 | TogoVar | |||||||
GLIS3_chr9_3819127_4305068 | 3991683 | A | AATTTTTT others(19): Show |
intron_variant | MODIFIER | NA18946.hp1 NA19240.hp2 |
a0021a0024 | a0021c0020a0024c0026 | a0021c0020t0002a0024c0026t0024 | a0021c0020t0002g0112 a0024c0026t0024g0036 |
2 | 20 | 0.1000 | 26 | c.171 others(47): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 4/10 | chr9 | TogoVar | |||||||
GLIS3_chr9_3819127_4305068 | 4059829 | T | TGTGTGTG others(19): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0116 | 1 | 57 | 0.0175 | 26 | c.171 others(47): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 4/10 | chr9 | TogoVar | |||||||
GLIS3_chr9_3819127_4305068 | 4059829 | T | TGTGTGTG others(19): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00642.hp1 HG00642.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0072 | a0001c0001t0001g0098 a0001c0001t0003g0163 a0002c0002t0072g0167 |
3 | 59 | 0.0508 | 26 | c.171 others(47): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 4/10 | chr9 | TogoVar | |||||||
GLIS3_chr9_3819127_4305068 | 4059829 | T | TGTGTGTG others(19): Show |
intron_variant | MODIFIER | NA18975.hp2 NA19007.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0175 a0002c0002t0002g0178 |
2 | 58 | 0.0345 | 26 | c.171 others(47): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 4/10 | chr9 | TogoVar | |||||||
GLMP_chr1_156287688_156300679 | 156296607 | T | TATATAGA others(19): Show |
upstream_gene_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 29 | 0.0345 | 26 | c.-96 others(35): Show |
GLMP | ENSG00000198715.13 | transcript | ENST00000362007.6 | protein_coding | 929 | chr1 | TogoVar | |||||||
GLMP_chr1_156287688_156300679 | 156296607 | T | TATATATA others(19): Show |
upstream_gene_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 29 | 0.0345 | 26 | c.-96 others(35): Show |
GLMP | ENSG00000198715.13 | transcript | ENST00000362007.6 | protein_coding | 929 | chr1 | TogoVar | |||||||
GLO1_chr6_38670925_38708145 | 38693683 | C | CTATATAT others(19): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 318 | 0.0031 | 26 | c.85- others(41): Show |
GLO1 | ENSG00000124767.7 | transcript | ENST00000373365.5 | protein_coding | 1/5 | chr6 | TogoVar | |||||||
GLO1_chr6_38670925_38708145 | 38693685 | C | CTCTCTCT others(19): Show |
intron_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 176 | 0.0057 | 26 | c.85- others(41): Show |
GLO1 | ENSG00000124767.7 | transcript | ENST00000373365.5 | protein_coding | 1/5 | chr6 | TogoVar | |||||||
GLO1_chr6_38670925_38708145 | 38693685 | C | CTCTCTCT others(19): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 176 | 0.0057 | 26 | c.85- others(41): Show |
GLO1 | ENSG00000124767.7 | transcript | ENST00000373365.5 | protein_coding | 1/5 | chr6 | TogoVar | |||||||
GLO1_chr6_38670925_38708145 | 38705384 | T | TTTCTTCT others(19): Show |
upstream_gene_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0067 | 1 | 408 | 0.0025 | 26 | c.-23 others(37): Show |
GLO1 | ENSG00000124767.7 | transcript | ENST00000373365.5 | protein_coding | 2240 | chr6 | TogoVar | |||||||
GLOD5_chrX_48756747_48778648 | 48766985 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG00673.hp1 HG00741.hp1 HG01069.hp1 others(34): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0043 others(18): Show |
37 | 46 | 0.8043 | 26 | c.201 others(43): Show |
GLOD5 | ENSG00000171433.12 | transcript | ENST00000303227.11 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GLOD5_chrX_48756747_48778648 | 48766996 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0051 | 1 | 264 | 0.0038 | 26 | c.201 others(43): Show |
GLOD5 | ENSG00000171433.12 | transcript | ENST00000303227.11 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GLP2R_chr17_9820924_9897099 | 9873556 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0315 | 1 | 19 | 0.0526 | 26 | c.114 others(45): Show |
GLP2R | ENSG00000065325.13 | transcript | ENST00000262441.10 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GLRA1_chr5_151817513_151929851 | 151849456 | C | CTTTCCTT others(19): Show |
intron_variant | MODIFIER | HG02630.hp1 NA18944.hp1 NA19085.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0200 a0001c0001t0002g0246 a0001c0001t0002g0247 others(1): Show |
4 | 256 | 0.0156 | 26 | c.912 others(43): Show |
GLRA1 | ENSG00000145888.11 | transcript | ENST00000274576.9 | protein_coding | 7/8 | chr5 | TogoVar | |||||||
GLRA2_chrX_14524536_14736812 | 14681910 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0005 | 1 | 107 | 0.0093 | 26 | c.931 others(43): Show |
GLRA2 | ENSG00000101958.14 | transcript | ENST00000218075.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GLT1D1_chr12_128848478_128989968 | 128874124 | C | CTCCCTTT others(19): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03195.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0314 a0002c0003t0001g0315 |
2 | 234 | 0.0085 | 26 | c.69- others(41): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
GLT1D1_chr12_128848478_128989968 | 128942753 | T | TTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02647.hp2 HG02723.hp2 others(1): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0001t0008a0001c0002t0001others(1): Show | a0001c0001t0001g0040 a0001c0001t0008g0074 a0001c0002t0001g0296 others(1): Show |
4 | 318 | 0.0126 | 26 | c.616 others(43): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
GLT1D1_chr12_128848478_128989968 | 128956158 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0073 | 1 | 156 | 0.0064 | 26 | c.781 others(43): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
GLT6D1_chr9_135618648_135644540 | 135619921 | A | ATCTCCCC others(19): Show |
downstream_gene_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0011 | a0001c0011t0002 | a0001c0011t0002g0027 | 2 | 426 | 0.0047 | 26 | c.*41 others(37): Show |
GLT6D1 | ENSG00000204007.8 | transcript | ENST00000371763.6 | protein_coding | 3726 | chr9 | TogoVar | |||||||
GLT8D2_chr12_103983987_104055187 | 104007233 | G | GCTCTCTC others(19): Show |
intron_variant | MODIFIER | HG00423.hp1 HG04115.hp2 NA18968.hp1 others(7): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0003a0001c0007t0002 | a0001c0001t0003g0131 a0001c0001t0003g0165 a0001c0001t0003g0183 others(7): Show |
10 | 65 | 0.1538 | 26 | c.113 others(43): Show |
GLT8D2 | ENSG00000120820.13 | transcript | ENST00000360814.9 | protein_coding | 4/10 | chr12 | TogoVar | |||||||
GMCL2_chr5_178179505_178192371 | 178187475 | A | ATTTTTTT others(19): Show |
upstream_gene_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0000 | 1 | 26 | 0.0385 | 26 | c.-17 others(35): Show |
GMCL2 | ENSG00000244234.3 | transcript | ENST00000463439.3 | protein_coding | 105 | chr5 | TogoVar | |||||||
GMDS_chr6_1618806_2250605 | 1652420 | A | ATATATTT others(19): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 154 | 0.0065 | 26 | c.988 others(45): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 9/10 | chr6 | TogoVar | |||||||
GMDS_chr6_1618806_2250605 | 1652698 | T | TATAATAT others(19): Show |
intron_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022 | 1 | 90 | 0.0111 | 26 | c.988 others(45): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 9/10 | chr6 | TogoVar | |||||||
GMDS_chr6_1618806_2250605 | 2013925 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0049 | 1 | 2 | 0.5000 | 26 | c.346 others(45): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 4/10 | chr6 | TogoVar | |||||||
GMDS_chr6_1618806_2250605 | 2059707 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00738.hp1 HG01952.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0050 a0001c0001t0001g0132 a0001c0002t0001g0126 others(5): Show |
8 | 13 | 0.6154 | 26 | c.345 others(45): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 4/10 | chr6 | TogoVar | |||||||
GNA15_chr19_3131033_3168749 | 3140044 | A | AAAATCTA others(19): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0349 | 1 | 33 | 0.0303 | 26 | c.145 others(43): Show |
GNA15 | ENSG00000060558.4 | transcript | ENST00000262958.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GNAI1_chr7_80129831_80231181 | 80217197 | A | ACTGTATG others(19): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02486.hp1 HG02622.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0031a0001c0001t0033a0001c0001t0077others(2): Show | a0001c0001t0031g0111 a0001c0001t0031g0190 a0001c0001t0033g0012 others(4): Show |
7 | 310 | 0.0226 | 26 | c.875 others(40): Show |
GNAI1 | ENSG00000127955.17 | transcript | ENST00000649796.2 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GNAI1_chr7_80129831_80231181 | 80217198 | C | CTGTATCA others(19): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(18): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0039others(4): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0145 others(17): Show |
21 | 170 | 0.1235 | 26 | c.875 others(40): Show |
GNAI1 | ENSG00000127955.17 | transcript | ENST00000649796.2 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GNAI1_chr7_80129831_80231181 | 80217198 | C | CTGTATGA others(19): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00423.hp2 others(136): Show |
a0001a0002 | a0001c0001a0002c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(26): Show | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(134): Show |
139 | 288 | 0.4826 | 26 | c.875 others(39): Show |
GNAI1 | ENSG00000127955.17 | transcript | ENST00000649796.2 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GNAI1_chr7_80129831_80231181 | 80217199 | T | TGTATGAA others(19): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0084 | 1 | 310 | 0.0032 | 26 | c.875 others(39): Show |
GNAI1 | ENSG00000127955.17 | transcript | ENST00000649796.2 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GNAI1_chr7_80129831_80231181 | 80217225 | T | TGTATGAA others(19): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0210 | 1 | 310 | 0.0032 | 26 | c.875 others(39): Show |
GNAI1 | ENSG00000127955.17 | transcript | ENST00000649796.2 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GNAL_chr18_11684264_11890685 | 11788914 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0182 | a0001c0001t0182g0015 | 1 | 24 | 0.0417 | 26 | c.624 others(45): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000334049.11 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GNAL_chr18_11684264_11890685 | 11788914 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0124 | a0001c0001t0124g0167 | 1 | 24 | 0.0417 | 26 | c.624 others(45): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000334049.11 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GNAL_chr18_11684264_11890685 | 11788914 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0161 | a0001c0001t0161g0021 | 1 | 24 | 0.0417 | 26 | c.624 others(45): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000334049.11 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GNAL_chr18_11747085_11890685 | 11788914 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0160 | a0001c0001t0160g0061 | 1 | 25 | 0.0400 | 26 | c.393 others(45): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000423027.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GNAL_chr18_11747085_11890685 | 11788914 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0112 | a0001c0001t0112g0245 | 1 | 25 | 0.0400 | 26 | c.393 others(45): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000423027.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GNAL_chr18_11747085_11890685 | 11788914 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0116 | a0001c0001t0116g0077 | 1 | 25 | 0.0400 | 26 | c.393 others(45): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000423027.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GNAQ_chr9_77711097_78036811 | 77828059 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | NA18957.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0011 | a0001c0001t0005g0072 a0001c0001t0011g0025 |
2 | 16 | 0.1250 | 26 | c.322 others(45): Show |
GNAQ | ENSG00000156052.11 | transcript | ENST00000286548.9 | protein_coding | 2/6 | chr9 | TogoVar | |||||||
GNB1L_chr22_19778223_19859874 | 19847803 | G | GAAAAAAA others(19): Show |
intron_variant | MODIFIER | NA18959.hp2 NA18986.hp1 NA19054.hp2 |
a0004 | a0004c0004 | a0004c0004t0005 | a0004c0004t0005g0002 | 3 | 282 | 0.0106 | 26 | c.-21 others(43): Show |
GNB1L | ENSG00000185838.14 | transcript | ENST00000329517.11 | protein_coding | 2/7 | chr22 | TogoVar | |||||||
GNB1_chr1_1780286_1896087 | 1864314 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 75 | 0.0133 | 26 | c.-95 others(45): Show |
GNB1 | ENSG00000078369.19 | transcript | ENST00000378609.9 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
GNB5_chr15_52110100_52196392 | 52111173 | A | AACACACA others(19): Show |
downstream_gene_variant | MODIFIER | HG02717.hp1 HG03041.hp2 NA19001.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0183a0001c0002t0201a0001c0003t0097others(1): Show | a0001c0001t0183g0205 a0001c0002t0201g0313 a0001c0003t0097g0093 others(1): Show |
4 | 49 | 0.0816 | 26 | c.*11 others(39): Show |
GNB5 | ENSG00000069966.19 | transcript | ENST00000261837.12 | protein_coding | 3926 | chr15 | TogoVar | |||||||
GNE_chr9_36209441_36263448 | 36216327 | A | ATGTGTGT others(19): Show |
3_prime_UTR_variant | MODIFIER | HG00621.hp2 HG00639.hp2 HG00735.hp1 others(42): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0015a0001c0001t0027others(7): Show | a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0019 others(39): Show |
45 | 161 | 0.2795 | 26 | c.*10 others(37): Show |
GNE | ENSG00000159921.20 | transcript | ENST00000642385.2 | protein_coding | 12/12 | 1037 | chr9 | TogoVar | ||||||
GNE_chr9_36209441_36263448 | 36216327 | A | ATGTGTGT others(19): Show |
3_prime_UTR_variant | MODIFIER | HG01109.hp1 HG01981.hp2 HG02896.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0031a0001c0001t0069a0001c0001t0089others(1): Show | a0001c0001t0031g0008 a0001c0001t0069g0213 a0001c0001t0089g0290 others(1): Show |
5 | 121 | 0.0413 | 26 | c.*10 others(37): Show |
GNE | ENSG00000159921.20 | transcript | ENST00000642385.2 | protein_coding | 12/12 | 1037 | chr9 | TogoVar | ||||||
GNE_chr9_36209441_36281978 | 36216327 | A | ATGTGTGT others(19): Show |
3_prime_UTR_variant | MODIFIER | HG00621.hp2 HG00639.hp2 HG00735.hp1 others(41): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0016a0001c0001t0036others(6): Show | a0001c0001t0002g0075 a0001c0001t0002g0078 a0001c0001t0002g0079 others(41): Show |
44 | 152 | 0.2895 | 26 | c.*10 others(37): Show |
GNE | ENSG00000159921.20 | transcript | ENST00000396594.8 | protein_coding | 12/12 | 1037 | chr9 | TogoVar | ||||||
GNE_chr9_36209441_36281978 | 36216327 | A | ATGTGTGT others(19): Show |
3_prime_UTR_variant | MODIFIER | HG01109.hp1 HG01981.hp2 HG02257.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0029a0001c0001t0035a0001c0001t0088others(1): Show | a0001c0001t0029g0001 a0001c0001t0035g0135 a0001c0001t0035g0350 others(2): Show |
6 | 114 | 0.0526 | 26 | c.*10 others(37): Show |
GNE | ENSG00000159921.20 | transcript | ENST00000396594.8 | protein_coding | 12/12 | 1037 | chr9 | TogoVar | ||||||
GNG12_chr1_67696475_67838467 | 67763090 | G | GGAGAGAG others(19): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02647.hp1 HG02818.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0006 | a0001c0001t0002g0078 a0001c0001t0002g0127 a0001c0001t0005g0006 others(4): Show |
7 | 117 | 0.0598 | 26 | c.-27 others(45): Show |
GNG12 | ENSG00000172380.6 | transcript | ENST00000370982.4 | protein_coding | 2/3 | chr1 | TogoVar |