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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GML_chr8_142829801_142851851 | 142843255 | T | TACACACA others(17): Show |
intron_variant | MODIFIER | NA18974.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0147 | 1 | 422 | 0.0024 | 24 | c.181 others(41): Show |
GML | ENSG00000104499.7 | transcript | ENST00000220940.2 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
GMNC_chr3_190847737_190867694 | 190856485 | A | ATATTTAT others(17): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01109.hp2 HG01257.hp2 others(12): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0005a0001c0001t0013a0001c0001t0017others(2): Show | a0001c0001t0005g0057 a0001c0001t0005g0067 a0001c0001t0005g0079 others(10): Show |
15 | 488 | 0.0307 | 24 | c.385 others(39): Show |
GMNC | ENSG00000205835.9 | transcript | ENST00000442080.6 | protein_coding | 4/4 | chr3 | TogoVar | |||||||
GMNC_chr3_190847737_190867694 | 190865764 | T | TCTCTCAA others(17): Show |
upstream_gene_variant | MODIFIER | HG02132.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0218 | 1 | 488 | 0.0021 | 24 | c.-31 others(35): Show |
GMNC | ENSG00000205835.9 | transcript | ENST00000442080.6 | protein_coding | 3071 | chr3 | TogoVar | |||||||
GNA11_chr19_3089362_3128999 | 3113819 | G | GGAGGGCC others(17): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 | 1 | 425 | 0.0024 | 24 | c.476 others(39): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GNA11_chr19_3089362_3128999 | 3120612 | G | GGGGGGGC others(17): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 425 | 0.0024 | 24 | c.890 others(39): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 6/6 | chr19 | TogoVar | |||||||
GNA12_chr7_2723105_2849308 | 2763191 | A | AACACACA others(17): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0275 | 1 | 322 | 0.0031 | 24 | c.526 others(43): Show |
GNA12 | ENSG00000146535.14 | transcript | ENST00000275364.8 | protein_coding | 2/3 | chr7 | TogoVar | |||||||
GNA12_chr7_2723105_2849308 | 2793282 | G | GCGCGAGA others(17): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02258.hp1 HG02965.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0019a0001c0001t0026 | a0001c0001t0017g0271 a0001c0001t0017g0272 a0001c0001t0019g0275 others(2): Show |
5 | 322 | 0.0155 | 24 | c.525 others(41): Show |
GNA12 | ENSG00000146535.14 | transcript | ENST00000275364.8 | protein_coding | 2/3 | chr7 | TogoVar | |||||||
GNA12_chr7_2723105_2849308 | 2793339 | G | GAAGCAGC others(17): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0260 a0001c0001t0001g0261 |
2 | 322 | 0.0062 | 24 | c.525 others(41): Show |
GNA12 | ENSG00000146535.14 | transcript | ENST00000275364.8 | protein_coding | 2/3 | chr7 | TogoVar | |||||||
GNA12_chr7_2723105_2849308 | 2842001 | T | TAGGGAGG others(17): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG01069.hp1 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(7): Show | a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 others(34): Show |
37 | 322 | 0.1149 | 24 | c.309 others(41): Show |
GNA12 | ENSG00000146535.14 | transcript | ENST00000275364.8 | protein_coding | 1/3 | chr7 | TogoVar | |||||||
GNA12_chr7_2723105_2849308 | 2842005 | G | GAGGGAGG others(17): Show |
intron_variant | MODIFIER | HG02818.hp2 HG02896.hp2 HG02922.hp1 |
a0001 | a0001c0004 | a0001c0004t0014 | a0001c0004t0014g0285 a0001c0004t0014g0286 a0001c0004t0014g0287 |
3 | 322 | 0.0093 | 24 | c.309 others(41): Show |
GNA12 | ENSG00000146535.14 | transcript | ENST00000275364.8 | protein_coding | 1/3 | chr7 | TogoVar | |||||||
GNA14_chr9_77418079_77653322 | 77493024 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 240 | 0.0042 | 24 | c.309 others(43): Show |
GNA14 | ENSG00000156049.7 | transcript | ENST00000341700.7 | protein_coding | 2/6 | chr9 | TogoVar | |||||||
GNA14_chr9_77418079_77653322 | 77497706 | A | AACATATT others(17): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02257.hp2 HG02280.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004a0001c0007 | a0001c0001t0001a0001c0001t0006a0001c0004t0001others(1): Show | a0001c0001t0001g0012 a0001c0001t0006g0024 a0001c0004t0001g0166 others(2): Show |
5 | 240 | 0.0208 | 24 | c.309 others(43): Show |
GNA14 | ENSG00000156049.7 | transcript | ENST00000341700.7 | protein_coding | 2/6 | chr9 | TogoVar | |||||||
GNA15_chr19_3131033_3168749 | 3140044 | A | AAAAAATC others(17): Show |
intron_variant | MODIFIER | HG03654.hp1 NA18906.hp1 |
a0001 | a0001c0002 | a0001c0002t0008a0001c0002t0019 | a0001c0002t0008g0360 a0001c0002t0019g0338 |
2 | 450 | 0.0044 | 24 | c.145 others(41): Show |
GNA15 | ENSG00000060558.4 | transcript | ENST00000262958.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GNA15_chr19_3131033_3168749 | 3145336 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | HG02809.hp1 NA18945.hp1 NA18962.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0004 a0001c0001t0001g0148 a0001c0003t0001g0280 |
4 | 450 | 0.0089 | 24 | c.146 others(41): Show |
GNA15 | ENSG00000060558.4 | transcript | ENST00000262958.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GNAL_chr18_11684264_11890685 | 11788914 | A | AAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0002 | a0002c0002 | a0002c0002t0066 | a0002c0002t0066g0057 | 1 | 248 | 0.0040 | 24 | c.624 others(43): 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(17): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0003 | a0003c0004 | a0003c0004t0034 | a0003c0004t0034g0003 | 1 | 248 | 0.0040 | 24 | c.624 others(43): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000334049.11 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GNAL_chr18_11684264_11890685 | 11788914 | A | AAAAAATA others(17): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0154 | a0001c0001t0154g0092 | 1 | 248 | 0.0040 | 24 | c.624 others(43): 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(17): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0161 | a0001c0001t0161g0282 | 1 | 284 | 0.0035 | 24 | c.393 others(43): 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(17): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0003 | a0001c0003t0169 | a0001c0003t0169g0063 | 1 | 284 | 0.0035 | 24 | c.393 others(43): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000423027.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GNAL_chr18_11747085_11890685 | 11788914 | A | AAAAAATA others(17): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0003 | a0001c0003t0088 | a0001c0003t0088g0065 | 1 | 284 | 0.0035 | 24 | c.393 others(43): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000423027.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GNAO1_chr16_56186489_56362444 | 56300036 | T | TGTGTGTG others(17): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0288 | 1 | 298 | 0.0034 | 24 | c.303 others(43): Show |
GNAO1 | ENSG00000087258.16 | transcript | ENST00000262493.12 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
GNAQ_chr9_77711097_78036811 | 77863179 | A | AAAGGAAG others(17): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00673.hp1 HG00738.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0003g0209 a0001c0001t0003g0218 a0001c0001t0003g0223 others(10): Show |
13 | 282 | 0.0461 | 24 | c.322 others(43): Show |
GNAQ | ENSG00000156052.11 | transcript | ENST00000286548.9 | protein_coding | 2/6 | chr9 | TogoVar | |||||||
GNAQ_chr9_77711097_78036811 | 77863216 | A | AAGGAAGG others(17): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0277 | 1 | 282 | 0.0036 | 24 | c.322 others(43): Show |
GNAQ | ENSG00000156052.11 | transcript | ENST00000286548.9 | protein_coding | 2/6 | chr9 | TogoVar | |||||||
GNAQ_chr9_77711097_78036811 | 77889410 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0253 | 1 | 282 | 0.0036 | 24 | c.321 others(43): Show |
GNAQ | ENSG00000156052.11 | transcript | ENST00000286548.9 | protein_coding | 2/6 | chr9 | TogoVar | |||||||
GNB1L_chr22_19778223_19859874 | 19847804 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01496.hp1 |
a0003 | a0003c0003 | a0003c0003t0003a0003c0003t0043 | a0003c0003t0003g0294 a0003c0003t0043g0292 |
2 | 326 | 0.0061 | 24 | c.-21 others(41): Show |
GNB1L | ENSG00000185838.14 | transcript | ENST00000329517.11 | protein_coding | 2/7 | chr22 | TogoVar | |||||||
GNB5_chr15_52110100_52196392 | 52111173 | A | AACACACA others(17): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 HG02273.hp1 NA19240.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0033a0001c0001t0114a0001c0001t0170others(1): Show | a0001c0001t0033g0328 a0001c0001t0114g0160 a0001c0001t0170g0338 others(1): Show |
4 | 366 | 0.0109 | 24 | c.*11 others(37): Show |
GNB5 | ENSG00000069966.19 | transcript | ENST00000261837.12 | protein_coding | 3926 | chr15 | TogoVar | |||||||
GNB5_chr15_52110100_52196392 | 52117102 | A | ATATATAT others(17): Show |
3_prime_UTR_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0003 | a0001c0003t0125 | a0001c0003t0125g0309 | 1 | 366 | 0.0027 | 24 | c.*56 others(35): Show |
GNB5 | ENSG00000069966.19 | transcript | ENST00000261837.12 | protein_coding | 13/13 | 5654 | chr15 | TogoVar | ||||||
GNB5_chr15_52110100_52196392 | 52117102 | A | ATTTTTTT others(17): Show |
3_prime_UTR_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0115 | a0001c0001t0115g0024 | 1 | 366 | 0.0027 | 24 | c.*56 others(35): Show |
GNB5 | ENSG00000069966.19 | transcript | ENST00000261837.12 | protein_coding | 13/13 | 5654 | chr15 | TogoVar | ||||||
GNB5_chr15_52110100_52196392 | 52135852 | A | AACACACA others(17): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0002 | a0001c0002t0138 | a0001c0002t0138g0250 | 1 | 366 | 0.0027 | 24 | c.628 others(38): Show |
GNB5 | ENSG00000069966.19 | transcript | ENST00000261837.12 | protein_coding | 7/12 | chr15 | TogoVar | |||||||
GNE_chr9_36209441_36263448 | 36216327 | A | ATGTGTGT others(17): Show |
3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG01099.hp1 others(30): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0007a0001c0001t0013a0001c0001t0023others(11): Show | a0001c0001t0007g0045 a0001c0001t0007g0050 a0001c0001t0007g0051 others(30): Show |
33 | 374 | 0.0882 | 24 | c.*10 others(35): Show |
GNE | ENSG00000159921.20 | transcript | ENST00000642385.2 | protein_coding | 12/12 | 1037 | chr9 | TogoVar | ||||||
GNE_chr9_36209441_36281978 | 36216327 | A | ATGTGTGT others(17): Show |
3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG01099.hp1 others(28): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0007a0001c0001t0013a0001c0001t0022others(11): Show | a0001c0001t0007g0140 a0001c0001t0007g0142 a0001c0001t0007g0154 others(28): Show |
31 | 356 | 0.0871 | 24 | c.*10 others(35): Show |
GNE | ENSG00000159921.20 | transcript | ENST00000396594.8 | protein_coding | 12/12 | 1037 | chr9 | TogoVar | ||||||
GNG12_chr1_67696475_67838467 | 67709854 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0010 | 1 | 274 | 0.0037 | 24 | c.-26 others(41): Show |
GNG12 | ENSG00000172380.6 | transcript | ENST00000370982.4 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
GNG12_chr1_67696475_67838467 | 67763090 | G | GGAGAGAG others(17): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01109.hp1 HG01167.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0091 a0001c0001t0001g0135 a0001c0001t0002g0026 others(13): Show |
16 | 274 | 0.0584 | 24 | c.-27 others(43): Show |
GNG12 | ENSG00000172380.6 | transcript | ENST00000370982.4 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
GNG13_chr16_793041_805734 | 795580 | G | GCCGCCCC others(17): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 HG00609.hp1 HG00673.hp2 others(39): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0015a0001c0001t0016others(1): Show | a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0024 others(3): Show |
42 | 422 | 0.0995 | 24 | c.*31 others(35): Show |
GNG13 | ENSG00000127588.5 | transcript | ENST00000248150.5 | protein_coding | 2460 | chr16 | TogoVar | |||||||
GNG2_chr14_51855612_51974795 | 51872310 | T | TTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0036 | 1 | 380 | 0.0026 | 24 | c.-70 others(41): Show |
GNG2 | ENSG00000186469.9 | transcript | ENST00000556766.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GNG2_chr14_51855612_51974795 | 51942571 | C | CTTTTTCT others(17): Show |
intron_variant | MODIFIER | HG02056.hp1 HG02273.hp1 HG02293.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0036 | a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0005g0333 others(1): Show |
4 | 380 | 0.0105 | 24 | c.-29 others(41): Show |
GNG2 | ENSG00000186469.9 | transcript | ENST00000556766.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GNG7_chr19_2506219_2707694 | 2567331 | T | TTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00642.hp2 HG01070.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(13): Show | a0001c0001t0001g0064 a0001c0001t0001g0149 a0001c0001t0002g0063 others(18): Show |
21 | 206 | 0.1019 | 24 | c.-77 others(43): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2639750 | G | GGGGAGGA others(17): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0104 | 1 | 206 | 0.0049 | 24 | c.-78 others(41): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2639761 | A | AAGGAGGG others(17): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02280.hp2 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0052a0001c0001t0074others(1): Show | a0001c0001t0017g0025 a0001c0001t0052g0020 a0001c0001t0074g0019 others(1): Show |
4 | 206 | 0.0194 | 24 | c.-78 others(41): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2649390 | A | AATTATTA others(17): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01346.hp2 HG01884.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011a0001c0001t0012others(15): Show | a0001c0001t0002g0206 a0001c0001t0011g0119 a0001c0001t0012g0174 others(15): Show |
18 | 206 | 0.0874 | 24 | c.-13 others(43): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2661302 | G | GAAAGAAA others(17): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0089 | a0001c0001t0089g0046 | 1 | 206 | 0.0049 | 24 | c.-13 others(45): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
GNGT2_chr17_49201237_49215574 | 49203933 | A | AGAAGGAA others(17): Show |
downstream_gene_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 440 | 0.0023 | 24 | c.*28 others(35): Show |
GNGT2 | ENSG00000167083.7 | transcript | ENST00000507680.6 | protein_coding | 2303 | chr17 | TogoVar | |||||||
GNL3L_chrX_54525219_54572289 | 54530148 | G | GCCCGCCC others(17): Show |
upstream_gene_variant | MODIFIER | NA18956.hp1 NA18982.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0002 a0001c0001t0007g0115 |
2 | 277 | 0.0072 | 24 | c.-31 others(33): Show |
GNL3L | ENSG00000130119.17 | transcript | ENST00000360845.3 | protein_coding | 70 | chrX | TogoVar | |||||||
GNLY_chr2_85689358_85703852 | 85703610 | C | CACCTTCC others(17): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG01175.hp2 NA18955.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0008 | a0002c0002t0001g0002 a0002c0002t0008g0002 |
6 | 398 | 0.0151 | 24 | c.*50 others(35): Show |
GNLY | ENSG00000115523.17 | transcript | ENST00000263863.9 | protein_coding | 4759 | chr2 | TogoVar | |||||||
GNLY_chr2_85689358_85703852 | 85703636 | C | CCTTCCTT others(17): Show |
downstream_gene_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 398 | 0.0025 | 24 | c.*50 others(35): Show |
GNLY | ENSG00000115523.17 | transcript | ENST00000263863.9 | protein_coding | 4785 | chr2 | TogoVar | |||||||
GNPTAB_chr12_101740499_101835959 | 101824405 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | NA18957.hp1 NA18987.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0335 a0001c0001t0004g0273 |
2 | 392 | 0.0051 | 24 | c.117 others(41): Show |
GNPTAB | ENSG00000111670.16 | transcript | ENST00000299314.12 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
GNPTAB_chr12_101740499_101835959 | 101833180 | A | AATATATA others(17): Show |
upstream_gene_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0157 | 1 | 392 | 0.0026 | 24 | c.-25 others(35): Show |
GNPTAB | ENSG00000111670.16 | transcript | ENST00000299314.12 | protein_coding | 2222 | chr12 | TogoVar | |||||||
GNPTAB_chr12_101740499_101835959 | 101833182 | A | AATATATA others(17): Show |
upstream_gene_variant | MODIFIER | HG01123.hp2 HG01346.hp2 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0183 a0001c0003t0003g0185 |
2 | 392 | 0.0051 | 24 | c.-25 others(35): Show |
GNPTAB | ENSG00000111670.16 | transcript | ENST00000299314.12 | protein_coding | 2224 | chr12 | TogoVar | |||||||
GNPTAB_chr12_101740499_101835959 | 101833239 | T | TCCCTCGG others(17): Show |
upstream_gene_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0247 | 1 | 392 | 0.0026 | 24 | c.-25 others(35): Show |
GNPTAB | ENSG00000111670.16 | transcript | ENST00000299314.12 | protein_coding | 2281 | chr12 | TogoVar | |||||||
GOLGA3_chr12_132763914_132833869 | 132767615 | C | CAAAAAAA others(17): Show |
downstream_gene_variant | MODIFIER | HG02683.hp1 HG02698.hp2 NA19058.hp2 |
a0001a0015 | a0001c0003a0015c0038 | a0001c0003t0004a0015c0038t0004 | a0001c0003t0004g0142 a0001c0003t0004g0162 a0015c0038t0004g0163 |
3 | 308 | 0.0097 | 24 | c.*54 others(35): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 1298 | chr12 | TogoVar |