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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GLO1_chr6_38670925_38708145 | 38705367 | CTTTATTT others(2): Show |
C | upstream_gene_variant | MODIFIER | NA18967.hp2 NA18970.hp1 NA18994.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0131 |
4 | 408 | 0.0098 | -9 | c.-23 others(20): Show |
GLO1 | ENSG00000124767.7 | transcript | ENST00000373365.5 | protein_coding | 2223 | chr6 | TogoVar | |||||||
GLP2R_chr17_9820924_9897099 | 9844668 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG01361.hp1 HG02055.hp2 others(12): Show |
a0001a0003a0005 | a0001c0001a0003c0004a0005c0007 | a0001c0001t0001a0001c0001t0004a0003c0004t0001others(1): Show | a0001c0001t0001g0012 a0001c0001t0001g0039 a0001c0001t0001g0116 others(12): Show |
15 | 44 | 0.3409 | -9 | c.504 others(26): Show |
GLP2R | ENSG00000065325.13 | transcript | ENST00000262441.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GLP2R_chr17_9820924_9897099 | 9885148 | TTTATTAT others(2): Show |
T | intron_variant | MODIFIER | HG02615.hp2 HG02717.hp1 NA19030.hp2 |
a0001a0010 | a0001c0001a0010c0016 | a0001c0001t0001a0010c0016t0001 | a0001c0001t0001g0027 a0001c0001t0001g0139 a0010c0016t0001g0306 |
3 | 102 | 0.0294 | -9 | c.128 others(28): Show |
GLP2R | ENSG00000065325.13 | transcript | ENST00000262441.10 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GLRA1_chr5_151817513_151929851 | 151821383 | CCTAAATG others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(135): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(135): Show |
138 | 282 | 0.4894 | -9 | c.*12 others(20): Show |
GLRA1 | ENSG00000145888.11 | transcript | ENST00000274576.9 | protein_coding | 1129 | chr5 | TogoVar | |||||||
GLRA2_chrX_14524536_14736812 | 14619566 | ACTACCTT others(2): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp2 HG00609.hp1 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0066 a0001c0001t0002g0054 a0001c0001t0003g0032 others(26): Show |
29 | 230 | 0.1261 | -9 | c.930 others(28): Show |
GLRA2 | ENSG00000101958.14 | transcript | ENST00000218075.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GLRA2_chrX_14524536_14736812 | 14730941 | CACACACA others(2): Show |
C | 3_prime_UTR_variant | MODIFIER | HG03516.hp1 NA19006.hp1 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 a0001c0001t0001g0099 a0001c0001t0001g0106 |
3 | 229 | 0.0131 | -9 | c.*45 others(18): Show |
GLRA2 | ENSG00000101958.14 | transcript | ENST00000218075.9 | protein_coding | 9/9 | 458 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GLRA3_chr4_174631920_174834247 | 174689756 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG01123.hp2 HG01346.hp1 HG01361.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0016others(10): Show | a0001c0001t0001g0020 a0001c0001t0003g0130 a0001c0001t0003g0169 others(15): Show |
18 | 91 | 0.1978 | -9 | c.575 others(26): Show |
GLRA3 | ENSG00000145451.13 | transcript | ENST00000274093.8 | protein_coding | 5/9 | chr4 | TogoVar | |||||||
GLRX_chr5_95808849_95827726 | 95827133 | CCGTTTGC others(2): Show |
C | upstream_gene_variant | MODIFIER | HG01243.hp1 HG01496.hp1 HG02055.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0040 a0001c0001t0003g0107 a0001c0001t0003g0109 others(2): Show |
6 | 418 | 0.0144 | -9 | c.-44 others(20): Show |
GLRX | ENSG00000173221.14 | transcript | ENST00000237858.11 | protein_coding | 4408 | chr5 | TogoVar | |||||||
GLS2_chr12_56465952_56493161 | 56476187 | TTTGTCAC others(2): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(301): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(109): Show |
304 | 360 | 0.8444 | -9 | c.838 others(24): Show |
GLS2 | ENSG00000135423.13 | transcript | ENST00000311966.9 | protein_coding | 7/17 | chr12 | TogoVar | |||||||
GLS_chr2_190875821_190970552 | 190880872 | CGCAGCAG others(2): Show |
C | 5_prime_UTR_variant | MODIFIER | HG01884.hp1 HG02071.hp1 HG02280.hp1 others(13): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0016a0001c0001t0017a0001c0001t0047others(4): Show | a0001c0001t0016g0025 a0001c0001t0016g0303 a0001c0001t0016g0305 others(11): Show |
16 | 56 | 0.2857 | -9 | c.-17 others(18): Show |
GLS | ENSG00000115419.14 | transcript | ENST00000320717.8 | protein_coding | 1/18 | 165 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GLT1D1_chr12_128848478_128989968 | 128874088 | CTTTCTTT others(2): Show |
C | intron_variant | MODIFIER | HG03098.hp1 NA18952.hp2 NA19063.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 a0001c0001t0001g0175 a0001c0001t0001g0225 |
3 | 299 | 0.0100 | -9 | c.69- others(24): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
GLT6D1_chr9_135618648_135644540 | 135620223 | ACTCCCCC others(2): Show |
A | downstream_gene_variant | MODIFIER | NA18949.hp2 NA18954.hp1 NA19078.hp2 |
a0002 | a0002c0010 | a0002c0010t0003 | a0002c0010t0003g0165 a0002c0010t0003g0189 a0002c0010t0003g0210 |
3 | 431 | 0.0070 | -9 | c.*38 others(20): Show |
GLT6D1 | ENSG00000204007.8 | transcript | ENST00000371763.6 | protein_coding | 3424 | chr9 | TogoVar | |||||||
GLT8D2_chr12_103983987_104055187 | 104021867 | AAAGAAGA others(2): Show |
A | intron_variant | MODIFIER | HG01074.hp1 HG02451.hp1 HG02451.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 others(1): Show |
4 | 377 | 0.0106 | -9 | c.-16 others(26): Show |
GLT8D2 | ENSG00000120820.13 | transcript | ENST00000360814.9 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
GLT8D2_chr12_103983987_104055187 | 104021947 | AGAAGAAG others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00558.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0092 a0001c0001t0001g0129 a0001c0001t0002g0372 others(8): Show |
11 | 375 | 0.0293 | -9 | c.-16 others(26): Show |
GLT8D2 | ENSG00000120820.13 | transcript | ENST00000360814.9 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
GLT8D2_chr12_103983987_104055187 | 104021977 | GGAAGAGG others(2): Show |
G | intron_variant | MODIFIER | HG02886.hp1 HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0081 |
3 | 382 | 0.0079 | -9 | c.-16 others(26): Show |
GLT8D2 | ENSG00000120820.13 | transcript | ENST00000360814.9 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
GLT8D2_chr12_103983987_104055187 | 104022014 | GAAGAAGA others(2): Show |
G | intron_variant | MODIFIER | HG01261.hp2 HG01891.hp1 HG02280.hp2 others(13): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0042 a0001c0001t0001g0051 a0001c0001t0001g0069 others(13): Show |
16 | 414 | 0.0386 | -9 | c.-16 others(26): Show |
GLT8D2 | ENSG00000120820.13 | transcript | ENST00000360814.9 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
GLUD1_chr10_87045202_87099843 | 87056115 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00621.hp2 HG00741.hp1 others(15): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0009 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0191 others(15): Show |
18 | 101 | 0.1782 | -9 | c.149 others(28): Show |
GLUD1 | ENSG00000148672.10 | transcript | ENST00000277865.5 | protein_coding | 11/12 | chr10 | TogoVar | |||||||
GLYATL3_chr6_49494923_49533078 | 49525560 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01978.hp1 HG01978.hp2 HG02074.hp2 others(28): Show |
a0001a0003a0005others(1): Show | a0001c0002a0003c0001a0005c0006others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(5): Show | a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0002g0010 others(23): Show |
31 | 37 | 0.8378 | -9 | c.441 others(24): Show |
GLYATL3 | ENSG00000203972.10 | transcript | ENST00000371197.9 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GLYCTK_chr3_52282828_52300257 | 52283990 | TTTGTTGT others(2): Show |
T | upstream_gene_variant | MODIFIER | HG00558.hp2 HG00597.hp2 HG02735.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0001 a0001c0001t0004g0012 |
16 | 39 | 0.4103 | -9 | c.-39 others(20): Show |
GLYCTK | ENSG00000168237.18 | transcript | ENST00000436784.7 | protein_coding | 3837 | chr3 | TogoVar | |||||||
GLYR1_chr16_4798203_4852288 | 4808270 | CAGAGAAT others(2): Show |
C | intron_variant | MODIFIER | HG02083.hp1 HG02135.hp2 NA18747.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008 | a0001c0001t0003g0124 a0001c0001t0003g0131 a0001c0001t0003g0151 others(3): Show |
6 | 350 | 0.0171 | -9 | c.158 others(28): Show |
GLYR1 | ENSG00000140632.17 | transcript | ENST00000321919.14 | protein_coding | 15/15 | chr16 | TogoVar | |||||||
GLYR1_chr16_4798203_4852288 | 4810699 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00558.hp1 others(54): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0002g0146 a0001c0001t0002g0150 a0001c0001t0003g0005 others(51): Show |
57 | 138 | 0.4130 | -9 | c.158 others(26): Show |
GLYR1 | ENSG00000140632.17 | transcript | ENST00000321919.14 | protein_coding | 15/15 | chr16 | TogoVar | |||||||
GM2A_chr5_151248185_151275440 | 151252585 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00597.hp2 HG02071.hp2 HG02080.hp1 others(15): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0013a0002c0002t0001others(3): Show | a0001c0001t0001g0040 a0001c0001t0013g0123 a0002c0002t0001g0006 others(8): Show |
18 | 393 | 0.0458 | -9 | c.-63 others(18): Show |
GM2A | ENSG00000196743.9 | transcript | ENST00000357164.4 | protein_coding | 599 | chr5 | TogoVar | |||||||
GMDS_chr6_1618806_2250605 | 1652582 | TTTATATA others(2): Show |
T | intron_variant | MODIFIER | HG02615.hp1 HG02896.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0034 a0001c0001t0002g0115 |
2 | 162 | 0.0123 | -9 | c.988 others(28): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 9/10 | chr6 | TogoVar | |||||||
GMDS_chr6_1618806_2250605 | 1652655 | TTATATAT others(2): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(43): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0027 others(43): Show |
46 | 152 | 0.3026 | -9 | c.988 others(28): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 9/10 | chr6 | TogoVar | |||||||
GMDS_chr6_1618806_2250605 | 1821611 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG01069.hp2 HG01175.hp1 HG02572.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0010 a0001c0001t0001g0034 a0001c0001t0001g0077 others(6): Show |
9 | 26 | 0.3462 | -9 | c.772 others(28): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 7/10 | chr6 | TogoVar | |||||||
GMDS_chr6_1618806_2250605 | 1999974 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | NA19010.hp2 NA20752.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0026 a0001c0002t0001g0059 |
2 | 164 | 0.0122 | -9 | c.346 others(28): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 4/10 | chr6 | TogoVar | |||||||
GMFB_chr14_54469485_54493980 | 54489118 | ATTTTTTT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG01433.hp1 HG01884.hp1 HG02451.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0003 a0001c0001t0003g0006 a0001c0001t0003g0008 others(7): Show |
20 | 97 | 0.2062 | -9 | c.-20 others(18): Show |
GMFB | ENSG00000197045.14 | transcript | ENST00000358056.8 | protein_coding | 139 | chr14 | TogoVar | |||||||
GMPR2_chr14_24227929_24244242 | 24230218 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00544.hp1 others(84): Show |
a0001a0006a0007 | a0001c0001a0001c0002a0001c0009others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0009t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(7): Show |
87 | 109 | 0.7982 | -9 | c.-27 others(20): Show |
GMPR2 | ENSG00000100938.19 | transcript | ENST00000399440.7 | protein_coding | 2710 | chr14 | TogoVar | |||||||
GNA11_chr19_3089362_3128999 | 3089890 | CTTTTTTT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00597.hp1 HG00735.hp1 HG00738.hp1 others(33): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(15): Show | a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0026 others(29): Show |
36 | 134 | 0.2687 | -9 | c.-47 others(20): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4471 | chr19 | TogoVar | |||||||
GNA11_chr19_3089362_3128999 | 3116448 | CGCATCCT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00621.hp2 HG00673.hp1 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0003a0001c0001t0006a0001c0001t0031others(5): Show | a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0086 others(26): Show |
33 | 409 | 0.0807 | -9 | c.605 others(26): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GNA12_chr7_2723105_2849308 | 2737265 | TTTTGTTT others(2): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00741.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0206 others(4): Show |
7 | 320 | 0.0219 | -9 | c.526 others(26): Show |
GNA12 | ENSG00000146535.14 | transcript | ENST00000275364.8 | protein_coding | 2/3 | chr7 | TogoVar | |||||||
GNA13_chr17_65004289_65061740 | 65018092 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02055.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0006 | a0001c0001t0002a0001c0001t0008a0001c0001t0010others(2): Show | a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0010 others(6): Show |
9 | 25 | 0.3600 | -9 | c.561 others(24): Show |
GNA13 | ENSG00000120063.10 | transcript | ENST00000439174.7 | protein_coding | 3/3 | chr17 | TogoVar | |||||||
GNA14_chr9_77418079_77653322 | 77431023 | TTTGTGTG others(2): Show |
T | intron_variant | MODIFIER | HG01081.hp2 HG01255.hp2 HG01884.hp2 others(8): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0006a0001c0001t0013others(2): Show | a0001c0001t0001g0060 a0001c0001t0001g0068 a0001c0001t0006g0023 others(8): Show |
11 | 163 | 0.0675 | -9 | c.593 others(24): Show |
GNA14 | ENSG00000156049.7 | transcript | ENST00000341700.7 | protein_coding | 4/6 | chr9 | TogoVar | |||||||
GNA14_chr9_77418079_77653322 | 77459238 | GGAAAAAA others(2): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG02622.hp2 HG02630.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0015others(4): Show | a0001c0001t0001g0026 a0001c0001t0001g0039 a0001c0001t0001g0076 others(14): Show |
17 | 238 | 0.0714 | -9 | c.310 others(28): Show |
GNA14 | ENSG00000156049.7 | transcript | ENST00000341700.7 | protein_coding | 2/6 | chr9 | TogoVar | |||||||
GNA15_chr19_3131033_3168749 | 3131136 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(152): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(16): Show | a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0020 others(146): Show |
155 | 216 | 0.7176 | -9 | c.-53 others(20): Show |
GNA15 | ENSG00000060558.4 | transcript | ENST00000262958.4 | protein_coding | 4896 | chr19 | TogoVar | |||||||
GNA15_chr19_3131033_3168749 | 3135844 | ATATATAT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG03239.hp1 NA18956.hp2 NA18961.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0403 a0001c0002t0001g0382 a0001c0002t0001g0396 |
3 | 440 | 0.0068 | -9 | c.-60 others(18): Show |
GNA15 | ENSG00000060558.4 | transcript | ENST00000262958.4 | protein_coding | 188 | chr19 | TogoVar | |||||||
GNAI1_chr7_80129831_80231181 | 80137293 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(85): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(25): Show | a0001c0001t0001g0079 a0001c0001t0001g0180 a0001c0001t0001g0214 others(84): Show |
88 | 296 | 0.2973 | -9 | c.118 others(26): Show |
GNAI1 | ENSG00000127955.17 | transcript | ENST00000649796.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GNAI1_chr7_80129831_80231181 | 80186023 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01192.hp1 HG01192.hp2 HG02647.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0041a0001c0003t0005 | a0001c0001t0001g0018 a0001c0001t0001g0047 a0001c0001t0001g0225 others(3): Show |
6 | 42 | 0.1429 | -9 | c.119 others(26): Show |
GNAI1 | ENSG00000127955.17 | transcript | ENST00000649796.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GNAI3_chr1_109543615_109605195 | 109594646 | ATTTTTTT others(2): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00438.hp1 HG01978.hp1 HG02027.hp1 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0017a0001c0001t0070others(1): Show | a0001c0001t0003g0001 a0001c0001t0003g0007 a0001c0001t0003g0029 others(20): Show |
38 | 73 | 0.5205 | -9 | c.*23 others(20): Show |
GNAI3 | ENSG00000065135.12 | transcript | ENST00000369851.7 | protein_coding | 9/9 | 2429 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
GNAL_chr18_11684264_11890685 | 11698490 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | NA18941.hp2 NA18957.hp1 NA18986.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0008a0001c0001t0088others(3): Show | a0001c0001t0007g0109 a0001c0001t0008g0110 a0001c0001t0088g0106 others(3): Show |
6 | 146 | 0.0411 | -9 | c.376 others(26): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000334049.11 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GNAL_chr18_11684264_11890685 | 11826365 | AGAGGAGG others(2): Show |
A | intron_variant | MODIFIER | HG02818.hp2 HG03195.hp1 HG03540.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0121a0001c0001t0125a0001c0001t0126others(1): Show | a0001c0001t0121g0115 a0001c0001t0125g0076 a0001c0001t0126g0114 others(1): Show |
4 | 246 | 0.0163 | -9 | c.722 others(26): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000334049.11 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GNAL_chr18_11747085_11890685 | 11826365 | AGAGGAGG others(2): Show |
A | intron_variant | MODIFIER | HG02818.hp2 HG03195.hp2 HG03540.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0109a0001c0001t0114a0001c0001t0120others(1): Show | a0001c0001t0109g0267 a0001c0001t0114g0266 a0001c0001t0120g0219 others(1): Show |
4 | 282 | 0.0142 | -9 | c.491 others(26): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000423027.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GNAO1_chr16_56186489_56362444 | 56187730 | AAATAATA others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG01258.hp2 HG02602.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(1): Show | a0001c0001t0001g0053 a0001c0001t0001g0177 a0001c0001t0004g0050 others(3): Show |
6 | 92 | 0.0652 | -9 | c.-45 others(20): Show |
GNAO1 | ENSG00000087258.16 | transcript | ENST00000262493.12 | protein_coding | 3758 | chr16 | TogoVar | |||||||
GNAO1_chr16_56186489_56362444 | 56337677 | AGTGGGGT others(2): Show |
A | intron_variant | MODIFIER | HG02559.hp2 HG03098.hp1 NA21309.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0013 | a0001c0002t0001g0038 a0001c0002t0013g0035 a0001c0002t0013g0293 |
3 | 296 | 0.0101 | -9 | c.723 others(24): Show |
GNAO1 | ENSG00000087258.16 | transcript | ENST00000262493.12 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
GNAO1_chr16_56186489_56362444 | 56354349 | AAGTAATT others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00423.hp1 others(105): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(25): Show | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0032 others(104): Show |
108 | 296 | 0.3649 | -9 | c.878 others(24): Show |
GNAO1 | ENSG00000087258.16 | transcript | ENST00000262493.12 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
GNAO1_chr16_56186489_56362444 | 56361753 | TAAAAAAA others(2): Show |
T | downstream_gene_variant | MODIFIER | HG00639.hp1 HG01928.hp2 NA18968.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(3): Show | a0001c0001t0001g0065 a0001c0001t0001g0167 a0001c0001t0001g0172 others(5): Show |
8 | 58 | 0.1379 | -9 | c.*56 others(20): Show |
GNAO1 | ENSG00000087258.16 | transcript | ENST00000262493.12 | protein_coding | 4310 | chr16 | TogoVar | |||||||
GNAQ_chr9_77711097_78036811 | 77889410 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG01192.hp2 HG01261.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0019others(10): Show | a0001c0001t0002g0174 a0001c0001t0005g0088 a0001c0001t0005g0109 others(16): Show |
19 | 40 | 0.4750 | -9 | c.321 others(28): Show |
GNAQ | ENSG00000156052.11 | transcript | ENST00000286548.9 | protein_coding | 2/6 | chr9 | TogoVar | |||||||
GNAQ_chr9_77711097_78036811 | 77904317 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01192.hp1 HG01981.hp2 HG02055.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0008others(4): Show | a0001c0001t0004g0107 a0001c0001t0005g0072 a0001c0001t0008g0056 others(4): Show |
7 | 56 | 0.1250 | -9 | c.321 others(28): Show |
GNAQ | ENSG00000156052.11 | transcript | ENST00000286548.9 | protein_coding | 2/6 | chr9 | TogoVar | |||||||
GNAS_chr20_58834748_58916192 | 58902725 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02572.hp1 HG02572.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0002t0006others(1): Show | a0001c0001t0003g0248 a0001c0001t0004g0035 a0001c0001t0004g0123 others(4): Show |
7 | 87 | 0.0805 | -9 | c.*16 others(26): Show |
GNAS | ENSG00000087460.29 | transcript | ENST00000371075.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
GNAS_chr20_58847716_58916192 | 58902725 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02572.hp1 HG02572.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0002others(1): Show | a0001c0001t0001g0195 a0001c0002t0001g0198 a0001c0002t0001g0222 others(3): Show |
7 | 90 | 0.0778 | -9 | c.218 others(26): Show |
GNAS | ENSG00000087460.29 | transcript | ENST00000371100.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |