regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GLIS3_chr9_3819127_4305068 | 4279346 | CACACACA others(11): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00558.hp1 others(37): Show |
a0001a0002a0007others(5): Show | a0001c0001a0001c0019a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0100a0001c0001t0001g0101a0001c0001t0001g0162others(37): Show | 40 | 188 | 0.2128 | -18 | c.388 others(35): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 2/10 | chr9 | TogoVar | ||||||
GLP1R_chr6_39043781_39096303 | 39063926 | AACACACA others(11): Show |
A | intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0004 | a0001c0004t0040 | a0001c0004t0040g0372 | 1 | 438 | 0.0023 | -18 | c.284 others(35): Show |
GLP1R | ENSG00000112164.6 | transcript | ENST00000373256.5 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
GLP2R_chr17_9820924_9897099 | 9844668 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 380 | 0.0026 | -18 | c.504 others(35): Show |
GLP2R | ENSG00000065325.13 | transcript | ENST00000262441.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
GLRA2_chrX_14524536_14736812 | 14691271 | CTGTGTGT others(11): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG03139.hp1 HG03516.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0007a0001c0002t0011 | a0001c0002t0005g0014a0001c0002t0007g0013a0001c0002t0007g0208others(1): Show | 4 | 232 | 0.0172 | -18 | c.108 others(35): Show |
GLRA2 | ENSG00000101958.14 | transcript | ENST00000218075.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GLRA2_chrX_14524536_14736812 | 14730891 | TACACACA others(11): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00323.hp1 HG01981.hp2 HG02293.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0020a0001c0002t0046 | a0001c0001t0020g0048a0001c0001t0020g0207a0001c0002t0046g0179 | 3 | 232 | 0.0129 | -18 | c.*44 others(27): Show |
GLRA2 | ENSG00000101958.14 | transcript | ENST00000218075.9 | protein_coding | 9/9 | 448 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
GLRA3_chr4_174631920_174834247 | 174639395 | TGTGTGTG others(11): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01109.hp1 HG01256.hp1 HG02145.hp2 others(9): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0007a0001c0001t0035a0001c0001t0040others(6): Show | a0001c0001t0007g0008a0001c0001t0007g0175a0001c0001t0035g0127others(9): Show | 12 | 296 | 0.0405 | -18 | c.*43 others(29): Show |
GLRA3 | ENSG00000145451.13 | transcript | ENST00000274093.8 | protein_coding | 10/10 | 4373 | chr4 | TogoVar | |||||
GLRA3_chr4_174631920_174834247 | 174688317 | TCATATAT others(11): Show |
T | intron_variant | MODIFIER | HG02818.hp2 HG02976.hp2 HG03540.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0085a0001c0003t0086a0001c0003t0091 | a0001c0001t0085g0139a0001c0003t0086g0011a0001c0003t0091g0243 | 3 | 296 | 0.0101 | -18 | c.575 others(35): Show |
GLRA3 | ENSG00000145451.13 | transcript | ENST00000274093.8 | protein_coding | 5/9 | chr4 | TogoVar | ||||||
GLRB_chr4_157071150_157177090 | 157120383 | TAATAATA others(11): Show |
T | intron_variant | MODIFIER | NA18985.hp1 NA19012.hp1 NA19054.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083a0001c0001t0001g0111a0001c0001t0001g0112 | 3 | 306 | 0.0098 | -18 | c.123 others(33): Show |
GLRB | ENSG00000109738.11 | transcript | ENST00000264428.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GLS_chr2_190875821_190970552 | 190880449 | CGGGGGAT others(11): Show |
C | upstream_gene_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0172 | 1 | 380 | 0.0026 | -18 | c.-63 others(27): Show |
GLS | ENSG00000115419.14 | transcript | ENST00000320717.8 | protein_coding | 371 | chr2 | TogoVar | ||||||
GLS_chr2_190875821_190970552 | 190880872 | CGCAGCAG others(11): Show |
C | 5_prime_UTR_variant | MODIFIER | HG00323.hp1 HG01257.hp2 HG01258.hp2 others(18): Show |
a0001a0005 | a0001c0001a0005c0010 | a0001c0001t0008a0001c0001t0011a0001c0001t0027others(1): Show | a0001c0001t0008g0011a0001c0001t0008g0017a0001c0001t0008g0133others(16): Show | 21 | 380 | 0.0553 | -18 | c.-18 others(27): Show |
GLS | ENSG00000115419.14 | transcript | ENST00000320717.8 | protein_coding | 1/18 | 165 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
GLS_chr2_190875821_190970552 | 190966525 | CATATACA others(11): Show |
C | downstream_gene_variant | MODIFIER | HG03491.hp1 HG03669.hp2 |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0061 | a0001c0001t0013g0111a0001c0001t0061g0112 | 2 | 380 | 0.0053 | -18 | c.*35 others(29): Show |
GLS | ENSG00000115419.14 | transcript | ENST00000320717.8 | protein_coding | 974 | chr2 | TogoVar | ||||||
GLT1D1_chr12_128848478_128989968 | 128874060 | CTTTCTTT others(11): Show |
C | intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0252 | 1 | 320 | 0.0031 | -18 | c.69- others(33): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
GLT1D1_chr12_128848478_128989968 | 128874086 | TTCTTTCT others(11): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG01978.hp2 HG01993.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0018a0001c0002t0001others(2): Show | a0001c0001t0001g0008a0001c0001t0001g0175a0001c0001t0018g0259others(4): Show | 7 | 320 | 0.0219 | -18 | c.69- others(33): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
GLT1D1_chr12_128848478_128989968 | 128874122 | CTCTCTTT others(11): Show |
C | intron_variant | MODIFIER | HG04115.hp1 NA18982.hp2 NA18989.hp2 |
a0001a0006 | a0001c0001a0006c0017 | a0001c0001t0001a0001c0001t0002a0006c0017t0001 | a0001c0001t0001g0232a0001c0001t0002g0123a0006c0017t0001g0196 | 3 | 320 | 0.0094 | -18 | c.69- others(33): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
GLT1D1_chr12_128848478_128989968 | 128874126 | CTTTCTTT others(11): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp1 HG00738.hp2 others(7): Show |
a0001a0008 | a0001c0001a0008c0018 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0216a0001c0001t0001g0217a0001c0001t0001g0225others(7): Show | 10 | 320 | 0.0313 | -18 | c.69- others(33): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
GLT1D1_chr12_128848478_128989968 | 128879362 | CTTATTAT others(11): Show |
C | intron_variant | MODIFIER | HG02257.hp1 | a0003 | a0003c0005 | a0003c0005t0004 | a0003c0005t0004g0045 | 1 | 320 | 0.0031 | -18 | c.217 others(35): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
GLT1D1_chr12_128848478_128989968 | 128879372 | TTTTCTTT others(11): Show |
T | intron_variant | MODIFIER | HG02622.hp1 HG02809.hp2 |
a0002 | a0002c0003a0002c0014 | a0002c0003t0005a0002c0014t0021 | a0002c0003t0005g0073a0002c0014t0021g0084 | 2 | 320 | 0.0063 | -18 | c.217 others(35): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
GLT1D1_chr12_128848478_128989968 | 128881545 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0155 | 1 | 320 | 0.0031 | -18 | c.217 others(35): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
GLT1D1_chr12_128848478_128989968 | 128881547 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | HG02129.hp1 NA18970.hp1 |
a0001 | a0001c0002a0001c0006 | a0001c0002t0001a0001c0006t0001 | a0001c0002t0001g0119a0001c0006t0001g0148 | 2 | 320 | 0.0063 | -18 | c.217 others(35): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
GLT1D1_chr12_128848478_128989968 | 128881549 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG01081.hp1 HG01192.hp1 others(28): Show |
a0001a0004 | a0001c0002a0001c0006a0001c0019others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(7): Show | a0001c0002t0001g0026a0001c0002t0001g0027a0001c0002t0001g0046others(28): Show | 31 | 320 | 0.0969 | -18 | c.217 others(35): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
GLT1D1_chr12_128848478_128989968 | 128919976 | TCTCTCTC others(11): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG00609.hp1 HG00639.hp2 others(48): Show |
a0001a0004a0008 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0005a0001c0001t0001g0072a0001c0001t0001g0082others(48): Show | 51 | 320 | 0.1594 | -18 | c.469 others(35): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
GLT1D1_chr12_128848478_128989968 | 128971613 | CCCCCCTC others(11): Show |
C | intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 320 | 0.0031 | -18 | c.880 others(37): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
GLT1D1_chr12_128848478_128989968 | 128971632 | CCCCCCTC others(11): Show |
C | intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 320 | 0.0031 | -18 | c.880 others(37): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
GLT1D1_chr12_128848478_128989968 | 128971651 | CCCCCCTC others(11): Show |
C | intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0019 | a0001c0019t0002 | a0001c0019t0002g0223 | 1 | 320 | 0.0031 | -18 | c.880 others(37): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
GLT6D1_chr9_135618648_135644540 | 135620025 | TCTTCTCC others(11): Show |
T | downstream_gene_variant | MODIFIER | HG02809.hp1 HG02886.hp1 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0003a0001c0008t0003 | a0001c0001t0003g0252a0001c0008t0003g0232 | 2 | 436 | 0.0046 | -18 | c.*40 others(29): Show |
GLT6D1 | ENSG00000204007.8 | transcript | ENST00000371763.6 | protein_coding | 3622 | chr9 | TogoVar | ||||||
GLT6D1_chr9_135618648_135644540 | 135620037 | TCTCCCCC others(11): Show |
T | downstream_gene_variant | MODIFIER | HG02922.hp2 NA18979.hp1 NA19030.hp2 |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0003a0003c0002t0004 | a0001c0001t0003g0040a0003c0002t0004g0041 | 3 | 436 | 0.0069 | -18 | c.*40 others(29): Show |
GLT6D1 | ENSG00000204007.8 | transcript | ENST00000371763.6 | protein_coding | 3610 | chr9 | TogoVar | ||||||
GLT6D1_chr9_135618648_135644540 | 135620142 | TCTCCCCC others(11): Show |
T | downstream_gene_variant | MODIFIER | NA19010.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0009 | 1 | 436 | 0.0023 | -18 | c.*39 others(29): Show |
GLT6D1 | ENSG00000204007.8 | transcript | ENST00000371763.6 | protein_coding | 3505 | chr9 | TogoVar | ||||||
GLT8D2_chr12_103983987_104055187 | 103990078 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG01243.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0068a0001c0001t0001g0335a0001c0001t0002g0356others(12): Show | 15 | 416 | 0.0361 | -18 | c.881 others(33): Show |
GLT8D2 | ENSG00000120820.13 | transcript | ENST00000360814.9 | protein_coding | 10/10 | chr12 | TogoVar | ||||||
GLT8D2_chr12_103983987_104055187 | 104021938 | AGAAGAAG others(11): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG01943.hp2 HG02071.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0002g0343a0001c0001t0002g0364a0001c0001t0002g0371others(11): Show | 14 | 416 | 0.0337 | -18 | c.-16 others(35): Show |
GLT8D2 | ENSG00000120820.13 | transcript | ENST00000360814.9 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
GLT8D2_chr12_103983987_104055187 | 104021947 | AGAAGAAG others(11): Show |
A | intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 416 | 0.0024 | -18 | c.-16 others(35): Show |
GLT8D2 | ENSG00000120820.13 | transcript | ENST00000360814.9 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
GLT8D2_chr12_103983987_104055187 | 104021953 | AGAGGAAG others(11): Show |
A | intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0332 | 1 | 416 | 0.0024 | -18 | c.-16 others(35): Show |
GLT8D2 | ENSG00000120820.13 | transcript | ENST00000360814.9 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
GLT8D2_chr12_103983987_104055187 | 104022005 | GAAGAAGA others(11): Show |
G | intron_variant | MODIFIER | HG00558.hp2 HG01884.hp2 HG02145.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(1): Show | a0001c0001t0001g0093a0001c0001t0001g0097a0001c0001t0001g0098others(7): Show | 10 | 416 | 0.0240 | -18 | c.-16 others(35): Show |
GLT8D2 | ENSG00000120820.13 | transcript | ENST00000360814.9 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
GLT8D2_chr12_103983987_104055187 | 104022040 | AGAAGAAG others(11): Show |
A | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 416 | 0.0024 | -18 | c.-16 others(35): Show |
GLT8D2 | ENSG00000120820.13 | transcript | ENST00000360814.9 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
GLTP_chr12_109845945_109885541 | 109850281 | ATTTTTTT others(11): Show |
A | downstream_gene_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 322 | 0.0031 | -18 | c.*22 others(29): Show |
GLTP | ENSG00000139433.11 | transcript | ENST00000318348.9 | protein_coding | 663 | chr12 | TogoVar | ||||||
GLYATL3_chr6_49494923_49533078 | 49509940 | TTTTCTTT others(11): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00609.hp2 HG01106.hp2 others(28): Show |
a0002a0012 | a0002c0003a0012c0020 | a0002c0003t0001a0012c0020t0001 | a0002c0003t0001g0004a0002c0003t0001g0015a0002c0003t0001g0031others(15): Show | 31 | 380 | 0.0816 | -18 | c.-28 others(35): Show |
GLYATL3 | ENSG00000203972.10 | transcript | ENST00000371197.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
GLYATL3_chr6_49494923_49533078 | 49529979 | GATATAGA others(11): Show |
G | downstream_gene_variant | MODIFIER | HG02717.hp2 HG06807.hp2 |
a0002 | a0002c0003a0002c0005 | a0002c0003t0001a0002c0005t0001 | a0002c0003t0001g0217a0002c0005t0001g0107 | 2 | 380 | 0.0053 | -18 | c.*30 others(29): Show |
GLYATL3 | ENSG00000203972.10 | transcript | ENST00000371197.9 | protein_coding | 1902 | chr6 | TogoVar | ||||||
GLYAT_chr11_58703757_58736943 | 58728883 | AAAGAAAG others(11): Show |
A | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0101 | 1 | 364 | 0.0028 | -18 | c.-16 others(35): Show |
GLYAT | ENSG00000149124.11 | transcript | ENST00000344743.8 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
GMDS_chr6_1618806_2250605 | 2013925 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG01069.hp2 HG01106.hp1 others(31): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0010a0001c0001t0001g0012a0001c0001t0001g0016others(31): Show | 34 | 166 | 0.2048 | -18 | c.346 others(37): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 4/10 | chr6 | TogoVar | ||||||
GMDS_chr6_1618806_2250605 | 2162659 | AACACACA others(11): Show |
A | intron_variant | MODIFIER | HG02135.hp2 NA19010.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0014a0001c0002t0001g0028 | 2 | 166 | 0.0121 | -18 | c.103 others(37): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 1/10 | chr6 | TogoVar | ||||||
GMDS_chr6_1618806_2250605 | 2243843 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG02280.hp1 HG02486.hp1 HG02572.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0082a0001c0001t0001g0084a0001c0001t0001g0085others(9): Show | 12 | 166 | 0.0723 | -18 | c.102 others(35): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 1/10 | chr6 | TogoVar | ||||||
GMEB1_chr1_28663784_28724353 | 28697162 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG00733.hp1 HG01346.hp2 HG01361.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116a0001c0001t0001g0117a0001c0001t0001g0118 | 3 | 290 | 0.0103 | -18 | c.598 others(32): Show |
GMEB1 | ENSG00000162419.13 | transcript | ENST00000373816.6 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
GMEB2_chr20_63582605_63632101 | 63601878 | TGCCTGTG others(11): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG03041.hp2 NA18522.hp1 |
a0001 | a0001c0007 | a0001c0007t0007 | a0001c0007t0007g0038a0001c0007t0007g0039a0001c0007t0007g0040 | 3 | 330 | 0.0091 | -18 | c.357 others(35): Show |
GMEB2 | ENSG00000101216.11 | transcript | ENST00000370077.2 | protein_coding | 4/9 | chr20 | TogoVar | ||||||
GMEB2_chr20_63582605_63632101 | 63621667 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0278 | 1 | 330 | 0.0030 | -18 | c.-57 others(35): Show |
GMEB2 | ENSG00000101216.11 | transcript | ENST00000370077.2 | protein_coding | 1/9 | chr20 | TogoVar | ||||||
GMIP_chr19_19624476_19648657 | 19624789 | TTGTGTGT others(11): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00423.hp2 others(31): Show |
a0001a0002 | a0001c0001a0001c0012a0002c0002 | a0001c0001t0001a0001c0012t0001a0002c0002t0001 | a0001c0001t0001g0006a0001c0001t0001g0018a0001c0001t0001g0034others(15): Show | 34 | 416 | 0.0817 | -18 | c.*51 others(29): Show |
GMIP | ENSG00000089639.11 | transcript | ENST00000203556.9 | protein_coding | 4686 | chr19 | TogoVar | ||||||
GMIP_chr19_19624476_19648657 | 19629359 | CAAAAAAA others(11): Show |
C | downstream_gene_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 416 | 0.0024 | -18 | c.*58 others(27): Show |
GMIP | ENSG00000089639.11 | transcript | ENST00000203556.9 | protein_coding | 116 | chr19 | TogoVar | ||||||
GMPR_chr6_16233587_16300549 | 16289848 | ATTTTTTT others(11): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG01891.hp2 HG02630.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089a0001c0001t0001g0092a0001c0001t0001g0093others(4): Show | 7 | 344 | 0.0204 | -18 | c.698 others(33): Show |
GMPR | ENSG00000137198.10 | transcript | ENST00000259727.5 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
GNA11_chr19_3089362_3128999 | 3116448 | CGCATCCT others(11): Show |
C | intron_variant | MODIFIER | HG02630.hp1 HG02896.hp2 HG02897.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0036a0001c0001t0039others(2): Show | a0001c0001t0012g0007a0001c0001t0012g0024a0001c0001t0012g0025others(6): Show | 12 | 425 | 0.0282 | -18 | c.605 others(35): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
GNA11_chr19_3089362_3128999 | 3117350 | ACCATCTT others(11): Show |
A | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0002 | a0001c0002t0038 | a0001c0002t0038g0223 | 1 | 425 | 0.0024 | -18 | c.606 others(35): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
GNA12_chr7_2723105_2849308 | 2780051 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0138 | 1 | 322 | 0.0031 | -18 | c.525 others(37): Show |
GNA12 | ENSG00000146535.14 | transcript | ENST00000275364.8 | protein_coding | 2/3 | chr7 | TogoVar | ||||||
GNA12_chr7_2723105_2849308 | 2796095 | ACCTCAGC others(11): Show |
A | intron_variant | MODIFIER | HG01192.hp2 HG02451.hp2 HG02647.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0017a0001c0001t0019others(1): Show | a0001c0001t0015g0140a0001c0001t0015g0141a0001c0001t0017g0271others(4): Show | 7 | 322 | 0.0217 | -18 | c.310 others(33): Show |
GNA12 | ENSG00000146535.14 | transcript | ENST00000275364.8 | protein_coding | 1/3 | chr7 | TogoVar |