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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GIPC1_chr19_14472762_14501127 | 14485732 | GAGAGAGA others(10): Show |
G | intron_variant | MODIFIER | NA19063.hp2 | a0009 | a0009c0010 | a0009c0010t0005 | a0009c0010t0005g0051 | 1 | 444 | 0.0023 | -17 | c.-30 others(34): Show |
GIPC1 | ENSG00000123159.16 | transcript | ENST00000393033.9 | protein_coding | 3/8 | chr19 | TogoVar | ||||||
GIT1_chr17_29568475_29594648 | 29589210 | CCGCAGCC others(10): Show |
C | intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 400 | 0.0025 | -17 | c.52+ others(30): Show |
GIT1 | ENSG00000108262.16 | transcript | ENST00000225394.8 | protein_coding | 1/19 | chr17 | TogoVar | ||||||
GJB4_chr1_34754740_34767327 | 34757288 | TGTTCTTG others(10): Show |
T | upstream_gene_variant | MODIFIER | NA18612.hp2 NA18946.hp1 NA18967.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0002 | 4 | 462 | 0.0087 | -17 | c.-28 others(28): Show |
GJB4 | ENSG00000189433.7 | transcript | ENST00000339480.3 | protein_coding | 2451 | chr1 | TogoVar | ||||||
GJB5_chr1_34750047_34763512 | 34757288 | TGTTCTTG others(10): Show |
T | splice_acceptor_variant others(3): Show |
HIGH | NA18612.hp1 NA18946.hp2 NA18967.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0010 | 4 | 468 | 0.0086 | -17 | c.-24 others(27): Show |
GJB5 | ENSG00000189280.3 | transcript | ENST00000338513.1 | protein_coding | 2/2 | 24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
GJD2_chr15_34746032_34759998 | 34746208 | CAAAAAAA others(10): Show |
C | downstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0003 | a0001c0003t0029 | a0001c0003t0029g0028 | 1 | 446 | 0.0022 | -17 | c.*62 others(28): Show |
GJD2 | ENSG00000159248.5 | transcript | ENST00000290374.5 | protein_coding | 4823 | chr15 | TogoVar | ||||||
GJD2_chr15_34746032_34759998 | 34746224 | AAAAAAAA others(10): Show |
A | downstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0003 | a0001c0003t0029 | a0001c0003t0029g0028 | 1 | 446 | 0.0022 | -17 | c.*62 others(28): Show |
GJD2 | ENSG00000159248.5 | transcript | ENST00000290374.5 | protein_coding | 4807 | chr15 | TogoVar | ||||||
GJD2_chr15_34746032_34759998 | 34746228 | AAAAAAAA others(10): Show |
A | downstream_gene_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0004 | a0001c0004t0009 | a0001c0004t0009g0009 | 1 | 446 | 0.0022 | -17 | c.*62 others(28): Show |
GJD2 | ENSG00000159248.5 | transcript | ENST00000290374.5 | protein_coding | 4803 | chr15 | TogoVar | ||||||
GJD2_chr15_34746032_34759998 | 34746234 | AAAAAAAT others(10): Show |
A | downstream_gene_variant | MODIFIER | HG03453.hp2 NA18961.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0043a0001c0003t0007 | a0001c0001t0043g0051a0001c0003t0007g0007 | 2 | 446 | 0.0045 | -17 | c.*62 others(28): Show |
GJD2 | ENSG00000159248.5 | transcript | ENST00000290374.5 | protein_coding | 4797 | chr15 | TogoVar | ||||||
GJD2_chr15_34746032_34759998 | 34746240 | ATATATAT others(10): Show |
A | downstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0005 | 1 | 446 | 0.0022 | -17 | c.*62 others(28): Show |
GJD2 | ENSG00000159248.5 | transcript | ENST00000290374.5 | protein_coding | 4791 | chr15 | TogoVar | ||||||
GLB1_chr3_32991617_33102146 | 33031631 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG02129.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128a0001c0001t0001g0201a0001c0001t0001g0213 | 3 | 394 | 0.0076 | -17 | c.106 others(36): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 10/15 | chr3 | TogoVar | ||||||
GLB1_chr3_32991617_33102146 | 33031633 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG00673.hp1 HG01358.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0007a0001c0001t0001g0056a0001c0001t0001g0205others(11): Show | 14 | 394 | 0.0355 | -17 | c.106 others(36): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 10/15 | chr3 | TogoVar | ||||||
GLB1_chr3_32991617_33102146 | 33031635 | AAAAAAAT others(10): Show |
A | intron_variant | MODIFIER | HG02273.hp1 HG04115.hp1 NA19089.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023a0001c0001t0001g0028a0001c0001t0001g0223 | 3 | 394 | 0.0076 | -17 | c.106 others(36): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 10/15 | chr3 | TogoVar | ||||||
GLDN_chr15_51336655_51413000 | 51342125 | TCTTCTCC others(10): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00609.hp2 HG00621.hp1 others(103): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0010a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(24): Show | a0001c0001t0001g0013a0001c0001t0001g0173a0001c0001t0001g0174others(98): Show | 106 | 412 | 0.2573 | -17 | c.363 others(30): Show |
GLDN | ENSG00000186417.15 | transcript | ENST00000335449.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GLG1_chr16_74442440_74612114 | 74454666 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0198 | 1 | 342 | 0.0029 | -17 | c.337 others(36): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 25/25 | chr16 | TogoVar | ||||||
GLI1_chr12_57454785_57477268 | 57462413 | GCGCCGGC others(10): Show |
G | intron_variant | MODIFIER | HG02630.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0049 | 1 | 414 | 0.0024 | -17 | c.-27 others(34): Show |
GLI1 | ENSG00000111087.10 | transcript | ENST00000228682.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
GLI2_chr2_120730868_120997653 | 120936324 | CCCCTGCT others(10): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp2 HG01109.hp2 others(14): Show |
a0001a0002a0003others(2): Show | a0001c0003a0001c0007a0001c0025others(5): Show | a0001c0003t0020a0001c0003t0021a0001c0003t0042others(12): Show | a0001c0003t0020g0004a0001c0003t0021g0087a0001c0003t0042g0031others(14): Show | 17 | 160 | 0.1063 | -17 | c.254 others(34): Show |
GLI2 | ENSG00000074047.22 | transcript | ENST00000361492.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GLIS1_chr1_53501239_53744164 | 53597176 | TAAAAAAA others(10): Show |
T | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0133 | 1 | 236 | 0.0042 | -17 | c.438 others(34): Show |
GLIS1 | ENSG00000174332.6 | transcript | ENST00000628545.2 | protein_coding | 3/10 | chr1 | TogoVar | ||||||
GLIS1_chr1_53501239_53744164 | 53615719 | TATTTATT others(10): Show |
T | intron_variant | MODIFIER | HG02717.hp1 HG02896.hp2 HG02970.hp2 others(2): Show |
a0002a0004a0008others(2): Show | a0002c0002a0004c0004a0008c0012others(2): Show | a0002c0002t0004a0004c0004t0009a0008c0012t0005others(2): Show | a0002c0002t0004g0130a0004c0004t0009g0020a0008c0012t0005g0187others(2): Show | 5 | 236 | 0.0212 | -17 | c.260 others(36): Show |
GLIS1 | ENSG00000174332.6 | transcript | ENST00000628545.2 | protein_coding | 2/10 | chr1 | TogoVar | ||||||
GLIS3_chr9_3819127_4305068 | 3860272 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG01175.hp2 HG03139.hp1 NA18522.hp1 |
a0002a0017 | a0002c0002a0017c0017 | a0002c0002t0007a0017c0017t0071 | a0002c0002t0007g0030a0002c0002t0007g0074a0017c0017t0071g0174 | 3 | 188 | 0.0160 | -17 | c.229 others(36): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 8/10 | chr9 | TogoVar | ||||||
GLIS3_chr9_3819127_4305068 | 3914990 | TATGTCTT others(10): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00438.hp1 others(183): Show |
a0001a0002a0003others(21): Show | a0001c0001a0001c0010a0001c0012others(28): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(125): Show | a0001c0001t0001g0100a0001c0001t0001g0101a0001c0001t0001g0102others(183): Show | 186 | 188 | 0.9894 | -17 | c.198 others(38): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 6/10 | chr9 | TogoVar | ||||||
GLIS3_chr9_3819127_4305068 | 3976795 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG01175.hp2 HG02109.hp2 HG02922.hp2 others(4): Show |
a0001a0002a0006others(2): Show | a0001c0001a0002c0002a0006c0009others(2): Show | a0001c0001t0002a0001c0001t0009a0002c0002t0006others(4): Show | a0001c0001t0002g0109a0001c0001t0009g0002a0002c0002t0006g0054others(4): Show | 7 | 188 | 0.0372 | -17 | c.171 others(38): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 4/10 | chr9 | TogoVar | ||||||
GLIS3_chr9_3819127_4305068 | 4195240 | CCCTGTCT others(10): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG01071.hp2 HG01106.hp1 others(23): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0019a0002c0002others(3): Show | a0001c0001t0011a0001c0001t0014a0001c0001t0018others(22): Show | a0001c0001t0011g0043a0001c0001t0014g0069a0001c0001t0018g0072others(23): Show | 26 | 188 | 0.1383 | -17 | c.389 others(36): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 2/10 | chr9 | TogoVar | ||||||
GLMN_chr1_92241402_92303987 | 92250147 | GCTTTGAC others(10): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp1 HG02280.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0017a0001c0001t0001g0160others(3): Show | 9 | 200 | 0.0450 | -17 | c.147 others(36): Show |
GLMN | ENSG00000174842.17 | transcript | ENST00000370360.8 | protein_coding | 16/18 | chr1 | TogoVar | ||||||
GLO1_chr6_38670925_38708145 | 38707586 | AAGAAAGG others(10): Show |
A | upstream_gene_variant | MODIFIER | HG02145.hp2 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0144 | 1 | 410 | 0.0024 | -17 | c.-45 others(28): Show |
GLO1 | ENSG00000124767.7 | transcript | ENST00000373365.5 | protein_coding | 4442 | chr6 | TogoVar | ||||||
GLRA2_chrX_14524536_14736812 | 14557102 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02132.hp1 HG02145.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(10): Show | a0001c0001t0001g0029a0001c0001t0001g0072a0001c0001t0004g0069others(13): Show | 16 | 232 | 0.0690 | -17 | c.203 others(36): Show |
GLRA2 | ENSG00000101958.14 | transcript | ENST00000218075.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GLRX3_chr10_130131391_130184672 | 130157493 | GCCCCCCC others(10): Show |
G | intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 424 | 0.0024 | -17 | c.202 others(34): Show |
GLRX3 | ENSG00000108010.12 | transcript | ENST00000331244.10 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
GLS_chr2_190875821_190970552 | 190880884 | AGCAGCAG others(10): Show |
A | 5_prime_UTR_variant | MODIFIER | NA19089.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0261 | 1 | 380 | 0.0026 | -17 | c.-20 others(26): Show |
GLS | ENSG00000115419.14 | transcript | ENST00000320717.8 | protein_coding | 1/18 | 184 | chr2 | TogoVar | |||||
GLT1D1_chr12_128848478_128989968 | 128874085 | TTTCTTTC others(10): Show |
T | intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0235 | 1 | 320 | 0.0031 | -17 | c.69- others(32): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
GLT1D1_chr12_128848478_128989968 | 128874130 | CTTTCTTT others(10): Show |
C | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 320 | 0.0031 | -17 | c.69- others(32): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
GLT1D1_chr12_128848478_128989968 | 128904623 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(122): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0004others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0032others(122): Show | 125 | 320 | 0.3906 | -17 | c.375 others(34): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
GLT1D1_chr12_128848478_128989968 | 128928019 | AAAAAAAC others(10): Show |
A | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0063 | 1 | 320 | 0.0031 | -17 | c.615 others(32): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
GLT1D1_chr12_128848478_128989968 | 128977765 | CTTTTTTC others(10): Show |
C | intron_variant | MODIFIER | HG02896.hp1 NA18975.hp1 NA19010.hp2 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0002 | a0001c0001t0001g0214a0001c0001t0001g0226a0003c0005t0002g0318 | 3 | 320 | 0.0094 | -17 | c.880 others(34): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
GLUD1_chr10_87045202_87099843 | 87079936 | CTCTCCCT others(10): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02486.hp1 HG02630.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0268a0001c0001t0001g0269a0001c0001t0001g0270others(7): Show | 10 | 334 | 0.0299 | -17 | c.446 others(34): Show |
GLUD1 | ENSG00000148672.10 | transcript | ENST00000277865.5 | protein_coding | 1/12 | chr10 | TogoVar | ||||||
GMPPA_chr2_219493891_219511989 | 219507943 | TGGACTGA others(10): Show |
T | downstream_gene_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 382 | 0.0026 | -17 | c.*11 others(28): Show |
GMPPA | ENSG00000144591.20 | transcript | ENST00000313597.10 | protein_coding | 955 | chr2 | TogoVar | ||||||
GNA12_chr7_2723105_2849308 | 2737272 | TTGTTTTT others(10): Show |
T | intron_variant | MODIFIER | HG01123.hp1 NA18960.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0033 | a0001c0001t0004g0089a0001c0001t0033g0110 | 2 | 322 | 0.0062 | -17 | c.526 others(34): Show |
GNA12 | ENSG00000146535.14 | transcript | ENST00000275364.8 | protein_coding | 2/3 | chr7 | TogoVar | ||||||
GNA14_chr9_77418079_77653322 | 77618608 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG02132.hp2 HG02717.hp1 HG03209.hp1 |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0017a0001c0002t0001a0001c0006t0001 | a0001c0001t0017g0227a0001c0002t0001g0143a0001c0006t0001g0144 | 3 | 240 | 0.0125 | -17 | c.124 others(36): Show |
GNA14 | ENSG00000156049.7 | transcript | ENST00000341700.7 | protein_coding | 1/6 | chr9 | TogoVar | ||||||
GNA14_chr9_77418079_77653322 | 77623216 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG01081.hp1 HG01169.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(6): Show | a0001c0001t0001g0130a0001c0001t0006g0129a0001c0001t0006g0145others(12): Show | 15 | 240 | 0.0625 | -17 | c.124 others(36): Show |
GNA14 | ENSG00000156049.7 | transcript | ENST00000341700.7 | protein_coding | 1/6 | chr9 | TogoVar | ||||||
GNA14_chr9_77418079_77653322 | 77641094 | GGGGGGGG others(10): Show |
G | intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0092 | 1 | 240 | 0.0042 | -17 | c.124 others(34): Show |
GNA14 | ENSG00000156049.7 | transcript | ENST00000341700.7 | protein_coding | 1/6 | chr9 | TogoVar | ||||||
GNA15_chr19_3131033_3168749 | 3148783 | GCCAGGGC others(10): Show |
G | intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0230 | 1 | 450 | 0.0022 | -17 | c.330 others(30): Show |
GNA15 | ENSG00000060558.4 | transcript | ENST00000262958.4 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
GNA15_chr19_3131033_3168749 | 3151046 | CTGTTCCT others(10): Show |
C | intron_variant | MODIFIER | NA19240.hp2 | a0004 | a0004c0010 | a0004c0010t0001 | a0004c0010t0001g0388 | 1 | 450 | 0.0022 | -17 | c.486 others(32): Show |
GNA15 | ENSG00000060558.4 | transcript | ENST00000262958.4 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
GNAO1_chr16_56186489_56362444 | 56315839 | CGAGACCA others(10): Show |
C | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0148 | 1 | 298 | 0.0034 | -17 | c.304 others(36): Show |
GNAO1 | ENSG00000087258.16 | transcript | ENST00000262493.12 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
GNAQ_chr9_77711097_78036811 | 77828059 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG01192.hp1 HG02004.hp1 HG02293.hp1 |
a0001 | a0001c0001 | a0001c0001t0064a0001c0001t0065a0001c0001t0066 | a0001c0001t0064g0132a0001c0001t0065g0091a0001c0001t0066g0100 | 3 | 282 | 0.0106 | -17 | c.322 others(36): Show |
GNAQ | ENSG00000156052.11 | transcript | ENST00000286548.9 | protein_coding | 2/6 | chr9 | TogoVar | ||||||
GNAQ_chr9_77711097_78036811 | 77857644 | GGGGGAAG others(10): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00642.hp1 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(18): Show | a0001c0001t0001g0111a0001c0001t0001g0182a0001c0001t0001g0204others(40): Show | 43 | 282 | 0.1525 | -17 | c.322 others(36): Show |
GNAQ | ENSG00000156052.11 | transcript | ENST00000286548.9 | protein_coding | 2/6 | chr9 | TogoVar | ||||||
GNAS_chr20_58834748_58916192 | 58914703 | TGAGGCAA others(10): Show |
T | downstream_gene_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0070 | 1 | 302 | 0.0033 | -17 | c.*49 others(28): Show |
GNAS | ENSG00000087460.29 | transcript | ENST00000371075.7 | protein_coding | 3512 | chr20 | TogoVar | ||||||
GNAS_chr20_58847716_58916192 | 58914703 | TGAGGCAA others(10): Show |
T | downstream_gene_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0150 | 1 | 302 | 0.0033 | -17 | c.*38 others(28): Show |
GNAS | ENSG00000087460.29 | transcript | ENST00000371100.9 | protein_coding | 3512 | chr20 | TogoVar | ||||||
GNAS_chr20_58886421_58916192 | 58914703 | TGAGGCAA others(10): Show |
T | downstream_gene_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0052 | 1 | 432 | 0.0023 | -17 | c.*38 others(28): Show |
GNAS | ENSG00000087460.29 | transcript | ENST00000371085.8 | protein_coding | 3512 | chr20 | TogoVar | ||||||
GNAZ_chr22_23065519_23130032 | 23070746 | CGCCTGCG others(10): Show |
C | intron_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0276 | 1 | 334 | 0.0030 | -17 | c.-45 others(34): Show |
GNAZ | ENSG00000128266.9 | transcript | ENST00000615612.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
GNB4_chr3_179391088_179456470 | 179419408 | TATCCCCA others(10): Show |
T | frameshift_variant | HIGH | NA19082.hp2 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0126 | 1 | 400 | 0.0025 | -17 | c.177 others(24): Show |
p.Tyr others(4): Show |
GNB4 | ENSG00000114450.11 | transcript | ENST00000232564.8 | protein_coding | 4/10 | 360/6315 | 177/1023 | 59/340 | chr3 | TogoVar | ||
GNB5_chr15_52110100_52196392 | 52119338 | AAGGGAGG others(10): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00735.hp1 HG02273.hp2 |
a0001 | a0001c0001 | a0001c0001t0110a0001c0001t0167 | a0001c0001t0110g0009a0001c0001t0167g0259 | 2 | 366 | 0.0055 | -17 | c.*34 others(28): Show |
GNB5 | ENSG00000069966.19 | transcript | ENST00000261837.12 | protein_coding | 13/13 | 3402 | chr15 | TogoVar | |||||
GNB5_chr15_52110100_52196392 | 52190778 | TAAAAAAA others(10): Show |
T | intron_variant | MODIFIER | HG00597.hp1 HG01255.hp1 HG01358.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0002a0001c0001t0007a0001c0001t0008others(6): Show | a0001c0001t0002g0081a0001c0001t0002g0082a0001c0001t0002g0084others(10): Show | 13 | 366 | 0.0355 | -17 | c.-19 others(32): Show |
GNB5 | ENSG00000069966.19 | transcript | ENST00000261837.12 | protein_coding | 1/12 | chr15 | TogoVar |