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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GLDC_chr9_6527467_6650729 | 6585892 | C | CTATCTAT others(10): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01070.hp1 HG01071.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0006 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0271 a0001c0001t0001g0300 others(5): Show |
9 | 313 | 0.0288 | 17 | c.185 others(36): Show |
GLDC | ENSG00000178445.10 | transcript | ENST00000321612.8 | protein_coding | 15/24 | chr9 | TogoVar | |||||||
GLDC_chr9_6527467_6650729 | 6629957 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0036 | 1 | 171 | 0.0058 | 17 | c.335 others(34): Show |
GLDC | ENSG00000178445.10 | transcript | ENST00000321612.8 | protein_coding | 2/24 | chr9 | TogoVar | |||||||
GLDC_chr9_6527467_6650729 | 6639668 | A | AAAAAAAT others(10): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0003 | a0003c0012 | a0003c0012t0001 | a0003c0012t0001g0089 | 1 | 118 | 0.0085 | 17 | c.334 others(34): Show |
GLDC | ENSG00000178445.10 | transcript | ENST00000321612.8 | protein_coding | 2/24 | chr9 | TogoVar | |||||||
GLDC_chr9_6527467_6650729 | 6639668 | A | AAAAATAT others(10): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01258.hp2 HG02559.hp2 others(4): Show |
a0001a0003 | a0001c0002a0001c0003a0003c0012 | a0001c0002t0001a0001c0002t0009a0001c0003t0001others(2): Show | a0001c0002t0001g0084 a0001c0002t0001g0086 a0001c0002t0009g0041 others(4): Show |
7 | 124 | 0.0565 | 17 | c.334 others(34): Show |
GLDC | ENSG00000178445.10 | transcript | ENST00000321612.8 | protein_coding | 2/24 | chr9 | TogoVar | |||||||
GLDC_chr9_6527467_6650729 | 6639668 | A | AAATATAT others(10): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0085 | 1 | 118 | 0.0085 | 17 | c.334 others(34): Show |
GLDC | ENSG00000178445.10 | transcript | ENST00000321612.8 | protein_coding | 2/24 | chr9 | TogoVar | |||||||
GLDC_chr9_6527467_6650729 | 6639668 | A | AAGTATAT others(10): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0165 | 1 | 118 | 0.0085 | 17 | c.334 others(34): Show |
GLDC | ENSG00000178445.10 | transcript | ENST00000321612.8 | protein_coding | 2/24 | chr9 | TogoVar | |||||||
GLG1_chr16_74442440_74612114 | 74479051 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02027.hp2 NA18954.hp2 NA18971.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0012 | a0001c0001t0001g0231 a0001c0001t0001g0238 a0001c0001t0001g0241 others(3): Show |
6 | 16 | 0.3750 | 17 | c.182 others(36): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 11/25 | chr16 | TogoVar | |||||||
GLG1_chr16_74442440_74612114 | 74498447 | A | AAGTATAT others(10): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00741.hp2 HG01516.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0012a0001c0001t0014a0001c0002t0003others(3): Show | a0001c0001t0012g0163 a0001c0001t0014g0172 a0001c0001t0014g0176 others(6): Show |
9 | 81 | 0.1111 | 17 | c.775 others(34): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 4/25 | chr16 | TogoVar | |||||||
GLG1_chr16_74442440_74612114 | 74539999 | A | ATATATTA others(10): Show |
intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 169 | 0.0059 | 17 | c.439 others(34): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 1/25 | chr16 | TogoVar | |||||||
GLG1_chr16_74442440_74612114 | 74542766 | G | GAAGGAAG others(10): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0329 | 1 | 321 | 0.0031 | 17 | c.439 others(36): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 1/25 | chr16 | TogoVar | |||||||
GLG1_chr16_74442440_74612114 | 74574883 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02080.hp1 NA18982.hp1 NA19060.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 a0001c0001t0001g0261 a0001c0001t0001g0319 |
3 | 43 | 0.0698 | 17 | c.438 others(36): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 1/25 | chr16 | TogoVar | |||||||
GLI3_chr7_41955949_42242209 | 41968713 | G | GAAAGAAA others(10): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0126 | 1 | 115 | 0.0087 | 17 | c.210 others(34): Show |
GLI3 | ENSG00000106571.15 | transcript | ENST00000395925.8 | protein_coding | 13/14 | chr7 | TogoVar | |||||||
GLI4_chr8_143262445_143281931 | 143268859 | C | CTGCTGCT others(10): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0108 | 1 | 50 | 0.0200 | 17 | c.-37 others(32): Show |
GLI4 | ENSG00000250571.7 | transcript | ENST00000340042.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
GLIPR1L1_chr12_75329670_75375560 | 75370695 | A | ATGTTCTG others(10): Show |
downstream_gene_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 368 | 0.0027 | 17 | c.*51 others(26): Show |
GLIPR1L1 | ENSG00000173401.10 | transcript | ENST00000378695.9 | protein_coding | 136 | chr12 | TogoVar | |||||||
GLIPR1_chr12_75475755_75508863 | 75482942 | A | AAAAAATC others(10): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0121 | 1 | 360 | 0.0028 | 17 | c.420 others(32): Show |
GLIPR1 | ENSG00000139278.10 | transcript | ENST00000266659.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
GLIS3_chr9_3819127_4305068 | 3896670 | T | TAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00558.hp2 others(40): Show |
a0001a0002a0004 | a0001c0001a0001c0010a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0121 others(40): Show |
43 | 45 | 0.9556 | 17 | c.212 others(36): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 7/10 | chr9 | TogoVar | |||||||
GLIS3_chr9_3819127_4305068 | 3991683 | A | AATTTTTT others(10): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02965.hp2 HG03225.hp1 others(3): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0005others(1): Show | a0001c0001t0016a0002c0002t0004a0002c0002t0050others(3): Show | a0001c0001t0016g0078 a0002c0002t0004g0035 a0002c0002t0050g0042 others(3): Show |
6 | 24 | 0.2500 | 17 | c.171 others(38): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 4/10 | chr9 | TogoVar | |||||||
GLIS3_chr9_3819127_4305068 | 4257586 | T | TTGTTGTT others(10): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00558.hp1 others(56): Show |
a0001a0002a0003others(9): Show | a0001c0001a0002c0002a0003c0025others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0126 a0001c0001t0001g0141 a0001c0001t0001g0144 others(56): Show |
59 | 105 | 0.5619 | 17 | c.388 others(36): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 2/10 | chr9 | TogoVar | |||||||
GLMP_chr1_156287688_156300679 | 156296579 | A | AAATATAT others(10): Show |
upstream_gene_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 195 | 0.0051 | 17 | c.-93 others(26): Show |
GLMP | ENSG00000198715.13 | transcript | ENST00000362007.6 | protein_coding | 901 | chr1 | TogoVar | |||||||
GLO1_chr6_38670925_38708145 | 38707754 | A | AAGAAAGA others(10): Show |
upstream_gene_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 333 | 0.0030 | 17 | c.-47 others(28): Show |
GLO1 | ENSG00000124767.7 | transcript | ENST00000373365.5 | protein_coding | 4610 | chr6 | TogoVar | |||||||
GLRA1_chr5_151817513_151929851 | 151849104 | T | TTTTCTTT others(10): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0214 | 1 | 125 | 0.0080 | 17 | c.912 others(34): Show |
GLRA1 | ENSG00000145888.11 | transcript | ENST00000274576.9 | protein_coding | 7/8 | chr5 | TogoVar | |||||||
GLRA1_chr5_151817513_151929851 | 151849452 | T | TTTCCTTT others(10): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0209 | 1 | 171 | 0.0058 | 17 | c.912 others(34): Show |
GLRA1 | ENSG00000145888.11 | transcript | ENST00000274576.9 | protein_coding | 7/8 | chr5 | TogoVar | |||||||
GLRA2_chrX_14524536_14736812 | 14681910 | A | AAAAATAT others(10): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0184 | 1 | 107 | 0.0093 | 17 | c.931 others(34): Show |
GLRA2 | ENSG00000101958.14 | transcript | ENST00000218075.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GLRA2_chrX_14524536_14736812 | 14681910 | A | AAATATAT others(10): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0077 | 1 | 107 | 0.0093 | 17 | c.931 others(34): Show |
GLRA2 | ENSG00000101958.14 | transcript | ENST00000218075.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GLT1D1_chr12_128848478_128989968 | 128879378 | T | TCTTTCTT others(10): Show |
intron_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0097 | 1 | 116 | 0.0086 | 17 | c.217 others(34): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 2/11 | chr12 | TogoVar | |||||||
GLT1D1_chr12_128848478_128989968 | 128879461 | T | TCTTTCTT others(10): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 315 | 0.0032 | 17 | c.217 others(34): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 2/11 | chr12 | TogoVar | |||||||
GLT1D1_chr12_128848478_128989968 | 128881561 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 165 | 0.0061 | 17 | c.217 others(34): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
GLT1D1_chr12_128848478_128989968 | 128942735 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0236 | 1 | 300 | 0.0033 | 17 | c.616 others(34): 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(10): Show |
intron_variant | MODIFIER | HG02145.hp1 HG03516.hp2 HG03710.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0005 a0001c0001t0002g0295 a0001c0001t0005g0173 others(1): Show |
4 | 159 | 0.0252 | 17 | c.781 others(34): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
GLT1D1_chr12_128848478_128989968 | 128956171 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00741.hp2 others(25): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0084 others(25): Show |
28 | 191 | 0.1466 | 17 | c.781 others(34): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
GLT1D1_chr12_128848478_128989968 | 128956171 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0271 | 1 | 164 | 0.0061 | 17 | c.781 others(34): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
GLT1D1_chr12_128848478_128989968 | 128971727 | C | CCCCCTCC others(10): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0117 | 1 | 316 | 0.0032 | 17 | c.880 others(36): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
GLT6D1_chr9_135618648_135644540 | 135619940 | A | ACTCCCCT others(10): Show |
downstream_gene_variant | MODIFIER | HG03225.hp2 | a0003 | a0003c0006 | a0003c0006t0004 | a0003c0006t0004g0092 | 1 | 381 | 0.0026 | 17 | c.*41 others(28): Show |
GLT6D1 | ENSG00000204007.8 | transcript | ENST00000371763.6 | protein_coding | 3707 | chr9 | TogoVar | |||||||
GLT8D1_chr3_52689486_52710791 | 52692369 | A | ACTTTTTT others(10): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00597.hp1 others(101): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(1): Show | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0010 others(24): Show |
104 | 309 | 0.3366 | 17 | c.*24 others(28): Show |
GLT8D1 | ENSG00000016864.19 | transcript | ENST00000266014.11 | protein_coding | 2116 | chr3 | TogoVar | |||||||
GLT8D2_chr12_103983987_104055187 | 104007266 | C | CTCTCTCT others(10): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0194 | 1 | 409 | 0.0024 | 17 | c.113 others(34): Show |
GLT8D2 | ENSG00000120820.13 | transcript | ENST00000360814.9 | protein_coding | 4/10 | chr12 | TogoVar | |||||||
GLT8D2_chr12_103983987_104055187 | 104016777 | A | AAGAAAGA others(10): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0396 | 1 | 413 | 0.0024 | 17 | c.20- others(32): Show |
GLT8D2 | ENSG00000120820.13 | transcript | ENST00000360814.9 | protein_coding | 3/10 | chr12 | TogoVar | |||||||
GLT8D2_chr12_103983987_104055187 | 104016885 | A | AGAAAGAA others(10): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 413 | 0.0024 | 17 | c.20- others(32): Show |
GLT8D2 | ENSG00000120820.13 | transcript | ENST00000360814.9 | protein_coding | 3/10 | chr12 | TogoVar | |||||||
GLT8D2_chr12_103983987_104055187 | 104032466 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0077 | 1 | 75 | 0.0133 | 17 | c.-16 others(38): Show |
GLT8D2 | ENSG00000120820.13 | transcript | ENST00000360814.9 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
GLUD1_chr10_87045202_87099843 | 87079936 | C | CTCTCCCT others(10): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 321 | 0.0031 | 17 | c.446 others(34): Show |
GLUD1 | ENSG00000148672.10 | transcript | ENST00000277865.5 | protein_coding | 1/12 | chr10 | TogoVar | |||||||
GLYATL1B_chr11_59081307_59099786 | 59097678 | T | TTTTTGTT others(10): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 NA18982.hp2 |
a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0027 | 2 | 434 | 0.0046 | 17 | c.*28 others(28): Show |
GLYATL1B | ENSG00000255151.2 | transcript | ENST00000527482.2 | protein_coding | 2893 | chr11 | TogoVar | |||||||
GLYATL3_chr6_49494923_49533078 | 49524193 | C | CTGAAGCT others(10): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(362): Show |
a0001a0002a0003others(13): Show | a0001c0002a0001c0007a0001c0011others(17): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(33): Show | a0001c0002t0001g0003 a0001c0002t0001g0017 a0001c0002t0001g0019 others(233): Show |
365 | 378 | 0.9656 | 17 | c.441 others(34): Show |
GLYATL3 | ENSG00000203972.10 | transcript | ENST00000371197.9 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GLYAT_chr11_58703757_58736943 | 58728862 | G | GAAAGAAA others(10): Show |
intron_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 362 | 0.0028 | 17 | c.-16 others(34): Show |
GLYAT | ENSG00000149124.11 | transcript | ENST00000344743.8 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
GMCL1_chr2_69824660_69886384 | 69838336 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0004 | a0001c0004t0014 | a0001c0004t0014g0111 | 1 | 83 | 0.0120 | 17 | c.384 others(32): Show |
GMCL1 | ENSG00000087338.5 | transcript | ENST00000282570.4 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GMCL1_chr2_69824660_69886384 | 69859742 | T | TAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02145.hp1 HG02895.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012 | a0001c0001t0003g0004 a0001c0001t0003g0019 a0001c0001t0003g0039 others(10): Show |
18 | 137 | 0.1314 | 17 | c.107 others(36): Show |
GMCL1 | ENSG00000087338.5 | transcript | ENST00000282570.4 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GMCL2_chr5_178179505_178192371 | 178187475 | A | ATTTTTTT others(10): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG00733.hp2 HG02622.hp2 others(2): Show |
a0002a0012 | a0002c0002a0012c0014 | a0002c0002t0002a0002c0002t0008a0012c0014t0002 | a0002c0002t0002g0000 a0002c0002t0008g0000 a0012c0014t0002g0000 |
5 | 30 | 0.1667 | 17 | c.-17 others(26): Show |
GMCL2 | ENSG00000244234.3 | transcript | ENST00000463439.3 | protein_coding | 105 | chr5 | TogoVar | |||||||
GMDS_chr6_1618806_2250605 | 1643354 | A | AACGAACC others(10): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 164 | 0.0061 | 17 | c.988 others(36): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 9/10 | chr6 | TogoVar | |||||||
GMDS_chr6_1618806_2250605 | 2052116 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02965.hp1 NA19240.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0060 a0001c0002t0001g0079 |
2 | 123 | 0.0163 | 17 | c.345 others(36): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 4/10 | chr6 | TogoVar | |||||||
GMEB1_chr1_28663784_28724353 | 28687383 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0200 | 1 | 107 | 0.0093 | 17 | c.129 others(34): Show |
GMEB1 | ENSG00000162419.13 | transcript | ENST00000373816.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
GMEB1_chr1_28663784_28724353 | 28720201 | C | CAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | HG01255.hp2 HG03225.hp1 |
a0001 | a0001c0002 | a0001c0002t0016a0001c0002t0026 | a0001c0002t0016g0011 a0001c0002t0026g0084 |
2 | 173 | 0.0116 | 17 | c.*54 others(28): Show |
GMEB1 | ENSG00000162419.13 | transcript | ENST00000373816.6 | protein_coding | 849 | chr1 | TogoVar | |||||||
GMPR2_chr14_24227929_24244242 | 24232392 | A | ACCCCCCC others(10): Show |
upstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 120 | 0.0083 | 17 | c.-62 others(26): Show |
GMPR2 | ENSG00000100938.19 | transcript | ENST00000399440.7 | protein_coding | 536 | chr14 | TogoVar |