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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GMCL2_chr5_178179505_178192371 | 178187475 | A | ATTTTTTT others(12): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 HG02735.hp2 HG03195.hp2 others(3): Show |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0002a0004c0004t0006 | a0002c0002t0002g0000 a0004c0004t0006g0000 |
6 | 31 | 0.1935 | 19 | c.-17 others(28): Show |
GMCL2 | ENSG00000244234.3 | transcript | ENST00000463439.3 | protein_coding | 105 | chr5 | TogoVar | |||||||
GMDS_chr6_1618806_2250605 | 2052116 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02040.hp2 HG03491.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0002t0001g0015 |
3 | 124 | 0.0242 | 19 | c.345 others(38): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 4/10 | chr6 | TogoVar | |||||||
GMDS_chr6_1618806_2250605 | 2059707 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01496.hp2 HG02055.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0030 a0001c0001t0001g0087 others(11): Show |
14 | 19 | 0.7368 | 19 | c.345 others(38): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 4/10 | chr6 | TogoVar | |||||||
GML_chr8_142829801_142851851 | 142843299 | C | CACACACA others(12): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 414 | 0.0024 | 19 | c.181 others(36): Show |
GML | ENSG00000104499.7 | transcript | ENST00000220940.2 | protein_coding | 3/3 | chr8 | TogoVar | |||||||
GMNC_chr3_190847737_190867694 | 190858045 | T | TAAATTAA others(12): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 486 | 0.0021 | 19 | c.268 others(34): Show |
GMNC | ENSG00000205835.9 | transcript | ENST00000442080.6 | protein_coding | 3/4 | chr3 | TogoVar | |||||||
GMPR2_chr14_24227929_24244242 | 24228108 | A | ATGAGGCC others(12): Show |
upstream_gene_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 418 | 0.0024 | 19 | c.-49 others(30): Show |
GMPR2 | ENSG00000100938.19 | transcript | ENST00000399440.7 | protein_coding | 4820 | chr14 | TogoVar | |||||||
GNA14_chr9_77418079_77653322 | 77493026 | A | AAAAATAT others(12): Show |
intron_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0075 | 1 | 64 | 0.0156 | 19 | c.309 others(38): Show |
GNA14 | ENSG00000156049.7 | transcript | ENST00000341700.7 | protein_coding | 2/6 | chr9 | TogoVar | |||||||
GNA14_chr9_77418079_77653322 | 77493026 | A | AAATATAT others(12): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0031 | 1 | 64 | 0.0156 | 19 | c.309 others(38): Show |
GNA14 | ENSG00000156049.7 | transcript | ENST00000341700.7 | protein_coding | 2/6 | chr9 | TogoVar | |||||||
GNA14_chr9_77418079_77653322 | 77515960 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0067 | 1 | 69 | 0.0145 | 19 | c.309 others(38): Show |
GNA14 | ENSG00000156049.7 | transcript | ENST00000341700.7 | protein_coding | 2/6 | chr9 | TogoVar | |||||||
GNA15_chr19_3131033_3168749 | 3145359 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG03491.hp1 NA18952.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0115 a0001c0002t0001g0091 |
2 | 124 | 0.0161 | 19 | c.146 others(36): Show |
GNA15 | ENSG00000060558.4 | transcript | ENST00000262958.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GNA15_chr19_3131033_3168749 | 3145359 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01975.hp1 HG04184.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0116 a0001c0001t0001g0123 a0001c0001t0001g0174 others(4): Show |
7 | 129 | 0.0543 | 19 | c.146 others(36): Show |
GNA15 | ENSG00000060558.4 | transcript | ENST00000262958.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GNA15_chr19_3131033_3168749 | 3145360 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | HG02273.hp1 NA18994.hp1 NA19010.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0034 a0001c0002t0001g0033 a0001c0002t0001g0391 |
3 | 415 | 0.0072 | 19 | c.146 others(36): Show |
GNA15 | ENSG00000060558.4 | transcript | ENST00000262958.4 | protein_coding | 1/6 | chr19 | TogoVar | |||||||
GNAI1_chr7_80129831_80231181 | 80200324 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0232 | 1 | 5 | 0.2000 | 19 | c.461 others(34): Show |
GNAI1 | ENSG00000127955.17 | transcript | ENST00000649796.2 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GNAL_chr18_11684264_11890685 | 11747605 | A | AGGATAGG others(12): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00423.hp2 others(59): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(55): Show | a0001c0001t0001g0082 a0001c0001t0002g0187 a0001c0001t0002g0195 others(59): Show |
62 | 246 | 0.2520 | 19 | c.377 others(36): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000334049.11 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GNAL_chr18_11747085_11890685 | 11747605 | A | AGGATAGG others(12): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00609.hp2 others(76): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(61): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0022 others(76): Show |
79 | 282 | 0.2801 | 19 | c.-48 others(30): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000423027.8 | protein_coding | 4479 | chr18 | TogoVar | |||||||
GNAO1_chr16_56186489_56362444 | 56359468 | T | TAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | HG01978.hp1 NA18964.hp1 NA18994.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0004 | a0001c0001t0004g0206 a0001c0001t0004g0214 a0001c0002t0004g0266 |
3 | 281 | 0.0107 | 19 | c.*33 others(30): Show |
GNAO1 | ENSG00000087258.16 | transcript | ENST00000262493.12 | protein_coding | 2025 | chr16 | TogoVar | |||||||
GNAQ_chr9_77711097_78036811 | 77828059 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | NA18906.hp2 NA18988.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012 | a0001c0001t0003g0250 a0001c0001t0012g0073 |
2 | 16 | 0.1250 | 19 | c.322 others(38): Show |
GNAQ | ENSG00000156052.11 | transcript | ENST00000286548.9 | protein_coding | 2/6 | chr9 | TogoVar | |||||||
GNAQ_chr9_77711097_78036811 | 77889410 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0060 | a0001c0001t0060g0164 | 1 | 22 | 0.0455 | 19 | c.321 others(38): Show |
GNAQ | ENSG00000156052.11 | transcript | ENST00000286548.9 | protein_coding | 2/6 | chr9 | TogoVar | |||||||
GNAT2_chr1_109598091_109624616 | 109615620 | A | AAAAGAAA others(12): Show |
intron_variant | MODIFIER | NA18993.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0067 | 1 | 30 | 0.0333 | 19 | c.-53 others(36): Show |
GNAT2 | ENSG00000134183.13 | transcript | ENST00000679935.1 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
GNB1L_chr22_19778223_19859874 | 19847803 | G | GAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 280 | 0.0036 | 19 | c.-21 others(36): Show |
GNB1L | ENSG00000185838.14 | transcript | ENST00000329517.11 | protein_coding | 2/7 | chr22 | TogoVar | |||||||
GNB1L_chr22_19778223_19859874 | 19847804 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00733.hp2 HG01109.hp1 others(4): Show |
a0001a0003a0007 | a0001c0001a0003c0003a0007c0010 | a0001c0001t0043a0003c0003t0002a0007c0010t0003 | a0001c0001t0043g0251 a0003c0003t0002g0092 a0003c0003t0002g0094 others(4): Show |
7 | 131 | 0.0534 | 19 | c.-21 others(36): Show |
GNB1L | ENSG00000185838.14 | transcript | ENST00000329517.11 | protein_coding | 2/7 | chr22 | TogoVar | |||||||
GNB5_chr15_52110100_52196392 | 52117102 | A | ATATATAT others(12): Show |
3_prime_UTR_variant | MODIFIER | HG01175.hp2 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0194a0001c0001t0199 | a0001c0001t0194g0339 a0001c0001t0199g0355 |
2 | 160 | 0.0125 | 19 | c.*56 others(30): Show |
GNB5 | ENSG00000069966.19 | transcript | ENST00000261837.12 | protein_coding | 13/13 | 5654 | chr15 | TogoVar | ||||||
GNB5_chr15_52110100_52196392 | 52136172 | A | ACACACAC others(12): Show |
intron_variant | MODIFIER | NA18969.hp2 NA19066.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0055a0001c0002t0149 | a0001c0001t0055g0128 a0001c0002t0149g0259 |
2 | 234 | 0.0085 | 19 | c.628 others(34): Show |
GNB5 | ENSG00000069966.19 | transcript | ENST00000261837.12 | protein_coding | 7/12 | chr15 | TogoVar | |||||||
GNE_chr9_36209441_36263448 | 36257802 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02922.hp2 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0014 | a0001c0001t0012g0229 a0001c0001t0014g0230 |
2 | 69 | 0.0290 | 19 | c.-43 others(34): Show |
GNE | ENSG00000159921.20 | transcript | ENST00000642385.2 | protein_coding | 1/11 | chr9 | TogoVar | |||||||
GNE_chr9_36209441_36281978 | 36257802 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02922.hp2 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0084 | a0001c0001t0014g0087 a0001c0001t0084g0179 |
2 | 66 | 0.0303 | 19 | c.52- others(34): Show |
GNE | ENSG00000159921.20 | transcript | ENST00000396594.8 | protein_coding | 1/11 | chr9 | TogoVar | |||||||
GNE_chr9_36209441_36281978 | 36277354 | C | CTTTTTTT others(12): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 HG02040.hp1 HG02735.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0009a0001c0001t0018others(5): Show | a0001c0001t0003g0010 a0001c0001t0003g0043 a0001c0001t0003g0051 others(8): Show |
11 | 95 | 0.1158 | 19 | c.-42 others(28): Show |
GNE | ENSG00000159921.20 | transcript | ENST00000396594.8 | protein_coding | 377 | chr9 | TogoVar | |||||||
GNG11_chr7_93916735_93933610 | 93930221 | C | CCTTTCTT others(12): Show |
downstream_gene_variant | MODIFIER | HG01346.hp1 HG02080.hp2 HG02155.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0003 a0001c0001t0002g0016 a0001c0001t0005g0005 |
6 | 421 | 0.0143 | 19 | c.*40 others(30): Show |
GNG11 | ENSG00000127920.6 | transcript | ENST00000248564.6 | protein_coding | 1612 | chr7 | TogoVar | |||||||
GNG12_chr1_67696475_67838467 | 67763090 | G | GAGAGAGA others(12): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 111 | 0.0090 | 19 | c.-27 others(38): Show |
GNG12 | ENSG00000172380.6 | transcript | ENST00000370982.4 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
GNG12_chr1_67696475_67838467 | 67806526 | T | TGCAGAGG others(12): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0166 | 1 | 161 | 0.0062 | 19 | c.-77 others(38): Show |
GNG12 | ENSG00000172380.6 | transcript | ENST00000370982.4 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
GNG4_chr1_235542685_235654784 | 235579862 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01243.hp2 HG03225.hp1 HG03471.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0027a0001c0002t0042 | a0001c0001t0006g0238 a0001c0001t0027g0259 a0001c0002t0042g0308 |
3 | 72 | 0.0417 | 19 | c.99+ others(34): Show |
GNG4 | ENSG00000168243.11 | transcript | ENST00000391854.7 | protein_coding | 3/3 | chr1 | TogoVar | |||||||
GNG4_chr1_235542685_235654784 | 235600100 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01168.hp2 HG01496.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0004a0001c0002t0051others(1): Show | a0001c0001t0003g0276 a0001c0002t0004g0267 a0001c0002t0051g0177 others(1): Show |
4 | 97 | 0.0412 | 19 | c.-12 others(38): Show |
GNG4 | ENSG00000168243.11 | transcript | ENST00000391854.7 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2525971 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG01081.hp1 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(22): Show | a0001c0001t0001g0113 a0001c0001t0001g0122 a0001c0001t0002g0065 others(33): Show |
36 | 69 | 0.5217 | 19 | c.-37 others(36): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 3/4 | chr19 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2607906 | G | GACAGCGA others(12): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03453.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0032a0001c0001t0082 | a0001c0001t0018g0014 a0001c0001t0032g0001 a0001c0001t0082g0015 |
3 | 204 | 0.0147 | 19 | c.-78 others(38): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2652699 | G | GAAGGGGG others(12): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 204 | 0.0049 | 19 | c.-13 others(38): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2657361 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0202 | 1 | 110 | 0.0091 | 19 | c.-13 others(40): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
GNL3L_chrX_54525219_54572289 | 54530148 | G | GCCCGCCC others(12): Show |
upstream_gene_variant | MODIFIER | NA18977.hp1 NA18995.hp1 NA19056.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0002 a0001c0001t0002g0009 a0001c0001t0002g0026 others(1): Show |
4 | 25 | 0.1600 | 19 | c.-31 others(28): Show |
GNL3L | ENSG00000130119.17 | transcript | ENST00000360845.3 | protein_coding | 70 | chrX | TogoVar | |||||||
GNL3_chr3_52681032_52699497 | 52692369 | A | ACTTTTTT others(12): Show |
intron_variant | MODIFIER | NA19030.hp2 NA19065.hp1 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0002a0003c0003t0003 | a0002c0002t0002g0046 a0003c0003t0003g0038 |
2 | 208 | 0.0096 | 19 | c.870 others(34): Show |
GNL3 | ENSG00000163938.17 | transcript | ENST00000418458.6 | protein_coding | 9/14 | chr3 | TogoVar | |||||||
GNLY_chr2_85689358_85703852 | 85703610 | C | CACCTCCT others(12): Show |
downstream_gene_variant | MODIFIER | HG01081.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0005 | 1 | 263 | 0.0038 | 19 | c.*50 others(30): Show |
GNLY | ENSG00000115523.17 | transcript | ENST00000263863.9 | protein_coding | 4759 | chr2 | TogoVar | |||||||
GNLY_chr2_85689358_85703852 | 85703636 | C | CCTTCCTT others(12): Show |
downstream_gene_variant | MODIFIER | HG01099.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 262 | 0.0038 | 19 | c.*50 others(30): Show |
GNLY | ENSG00000115523.17 | transcript | ENST00000263863.9 | protein_coding | 4785 | chr2 | TogoVar | |||||||
GNPTAB_chr12_101740499_101835959 | 101824433 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01071.hp2 HG02056.hp2 others(7): Show |
a0001a0005 | a0001c0001a0001c0003a0001c0008others(2): Show | a0001c0001t0011a0001c0003t0003a0001c0008t0004others(2): Show | a0001c0001t0011g0059 a0001c0003t0003g0155 a0001c0003t0003g0157 others(7): Show |
10 | 292 | 0.0342 | 19 | c.117 others(36): Show |
GNPTAB | ENSG00000111670.16 | transcript | ENST00000299314.12 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
GNPTAB_chr12_101740499_101835959 | 101833176 | A | ATATATAT others(12): Show |
upstream_gene_variant | MODIFIER | HG02922.hp2 | a0006 | a0006c0016 | a0006c0016t0013 | a0006c0016t0013g0235 | 1 | 384 | 0.0026 | 19 | c.-25 others(30): Show |
GNPTAB | ENSG00000111670.16 | transcript | ENST00000299314.12 | protein_coding | 2218 | chr12 | TogoVar | |||||||
GNPTG_chr16_1346931_1369113 | 1366889 | A | AGGAAAGG others(12): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(321): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(82): Show |
324 | 375 | 0.8640 | 19 | c.*37 others(30): Show |
GNPTG | ENSG00000090581.11 | transcript | ENST00000204679.9 | protein_coding | 2777 | chr16 | TogoVar | |||||||
GNPTG_chr16_1346931_1369113 | 1366891 | G | GAAAGGCG others(12): Show |
downstream_gene_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 376 | 0.0027 | 19 | c.*38 others(30): Show |
GNPTG | ENSG00000090581.11 | transcript | ENST00000204679.9 | protein_coding | 2779 | chr16 | TogoVar | |||||||
GOLGA1_chr9_124873275_124946083 | 124887339 | A | AGGGCTGG others(12): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0045 | 1 | 372 | 0.0027 | 19 | c.190 others(36): Show |
GOLGA1 | ENSG00000136935.14 | transcript | ENST00000373555.9 | protein_coding | 19/22 | chr9 | TogoVar | |||||||
GOLGA3_chr12_132763914_132833869 | 132767615 | C | CAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 HG01106.hp2 HG02056.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0008 | a0001c0001t0004a0001c0003t0004a0001c0003t0011others(4): Show | a0001c0001t0004g0180 a0001c0003t0004g0204 a0001c0003t0004g0225 others(5): Show |
8 | 22 | 0.3636 | 19 | c.*54 others(30): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 1298 | chr12 | TogoVar | |||||||
GOLGA3_chr12_132763914_132833869 | 132788939 | G | GCCCCGCC others(12): Show |
intron_variant | MODIFIER | NA19083.hp1 | a0002 | a0002c0002 | a0002c0002t0034 | a0002c0002t0034g0291 | 1 | 306 | 0.0033 | 19 | c.281 others(34): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 13/23 | chr12 | TogoVar | |||||||
GOLGA4_chr3_37238271_37371879 | 37362780 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01192.hp1 HG01261.hp2 others(12): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0007 | a0001c0001t0001a0002c0002t0002a0004c0007t0001 | a0001c0001t0001g0171 a0001c0001t0001g0172 a0002c0002t0002g0203 others(12): Show |
15 | 153 | 0.0980 | 19 | c.*33 others(36): Show |
GOLGA4 | ENSG00000144674.19 | transcript | ENST00000361924.7 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GOLGA6L10_chr15_82334993_82354475 | 82345106 | C | CATGTAGC others(12): Show |
frameshift_variant | HIGH | HG02698.hp2 | a0002 | a0002c0002 | a0002c0002t0030 | a0002c0002t0030g0132 | 1 | 300 | 0.0033 | 19 | c.753 others(26): Show |
p.Glu others(5): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 853/4452 | 753/1569 | 251/522 | chr15 | TogoVar | |||
GOLGA6L10_chr15_82334993_82354475 | 82345107 | A | ACGTAGCC others(12): Show |
frameshift_variant others(1): Show |
HIGH | HG03579.hp2 | a0029 | a0029c0050 | a0029c0050t0026 | a0029c0050t0026g0144 | 1 | 236 | 0.0042 | 19 | c.752 others(26): Show |
p.Cys others(5): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 852/4452 | 752/1569 | 251/522 | chr15 | TogoVar | |||
GOLGA6L10_chr15_82334993_82354475 | 82345107 | A | ATGTAGCC others(12): Show |
frameshift_variant others(1): Show |
HIGH | NA19043.hp1 | a0036 | a0036c0040 | a0036c0040t0001 | a0036c0040t0001g0088 | 1 | 236 | 0.0042 | 19 | c.752 others(26): Show |
p.Cys others(5): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 852/4452 | 752/1569 | 251/522 | chr15 | TogoVar |