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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GLI3_chr7_41955949_42242209 | 42182683 | C | CGTGTGTA others(89): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0148 | 1 | 93 | 0.0108 | 96 | c.125 others(115): Show |
GLI3 | ENSG00000106571.15 | transcript | ENST00000395925.8 | protein_coding | 2/14 | chr7 | TogoVar | |||||||
GNAL_chr18_11684264_11890685 | 11804146 | A | AGTTTGGA others(89): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0002 | a0002c0002 | a0002c0002t0066 | a0002c0002t0066g0227 | 1 | 234 | 0.0043 | 96 | c.625 others(115): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000334049.11 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GNAL_chr18_11684264_11890685 | 11804767 | T | TGCGGTTT others(89): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0003 | a0003c0004 | a0003c0004t0043 | a0003c0004t0043g0006 | 1 | 160 | 0.0063 | 96 | c.625 others(115): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000334049.11 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GNAL_chr18_11747085_11890685 | 11804146 | A | AGTTTGGA others(89): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0161 | a0001c0001t0161g0282 | 1 | 268 | 0.0037 | 96 | c.394 others(115): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000423027.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GNAL_chr18_11747085_11890685 | 11804767 | T | TGCGGTTT others(89): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0093 | a0001c0001t0093g0273 | 1 | 175 | 0.0057 | 96 | c.394 others(115): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000423027.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GNG7_chr19_2506219_2707694 | 2590485 | T | TCATCCAT others(89): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00733.hp1 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0033 a0001c0001t0001g0069 a0001c0001t0001g0074 others(33): Show |
36 | 199 | 0.1809 | 96 | c.-77 others(115): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
GP6_chr19_55008705_55043264 | 55024284 | A | ACATGCAC others(89): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02280.hp1 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0101 a0002c0004t0001g0113 |
2 | 330 | 0.0061 | 96 | c.664 others(111): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 5/7 | chr19 | TogoVar | |||||||
GPATCH2_chr1_217421992_217636090 | 217524877 | G | GGGAGAGG others(89): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 183 | 0.0055 | 96 | c.109 others(115): Show |
GPATCH2 | ENSG00000092978.11 | transcript | ENST00000366935.8 | protein_coding | 5/9 | chr1 | TogoVar | |||||||
GPATCH2_chr1_217421992_217636090 | 217524927 | G | GGGAGAGG others(89): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 183 | 0.0055 | 96 | c.109 others(117): Show |
GPATCH2 | ENSG00000092978.11 | transcript | ENST00000366935.8 | protein_coding | 5/9 | chr1 | TogoVar | |||||||
GPR139_chr16_20023239_20078890 | 20041251 | G | GAGAGGAG others(89): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01978.hp2 HG01981.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0007a0001c0002t0001others(2): Show | a0001c0001t0003g0043 a0001c0001t0003g0051 a0001c0001t0003g0094 others(7): Show |
10 | 284 | 0.0352 | 96 | c.128 others(113): Show |
GPR139 | ENSG00000180269.8 | transcript | ENST00000570682.2 | protein_coding | 1/1 | chr16 | TogoVar | |||||||
GPR157_chr1_9095305_9134102 | 9123552 | A | AATATATA others(89): Show |
intron_variant | MODIFIER | HG02145.hp1 HG03195.hp2 HG03471.hp2 others(1): Show |
a0003 | a0003c0007a0003c0012 | a0003c0007t0015a0003c0012t0015 | a0003c0007t0015g0036 a0003c0012t0015g0247 a0003c0012t0015g0248 |
4 | 112 | 0.0357 | 96 | c.383 others(113): Show |
GPR157 | ENSG00000180758.12 | transcript | ENST00000377411.5 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
GPR161_chr1_168074542_168141930 | 168119275 | T | TATACATA others(89): Show |
intron_variant | MODIFIER | HG03834.hp2 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0154 a0001c0001t0003g0165 |
2 | 250 | 0.0080 | 96 | c.-44 others(115): Show |
GPR161 | ENSG00000143147.15 | transcript | ENST00000682931.1 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
GPR161_chr1_168074542_168141930 | 168119275 | T | TATACATA others(89): Show |
intron_variant | MODIFIER | HG02630.hp2 HG03486.hp2 |
a0001a0002 | a0001c0005a0002c0013 | a0001c0005t0009a0002c0013t0009 | a0001c0005t0009g0126 a0002c0013t0009g0125 |
2 | 250 | 0.0080 | 96 | c.-44 others(115): Show |
GPR161 | ENSG00000143147.15 | transcript | ENST00000682931.1 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
GPR39_chr2_132411805_132651582 | 132633993 | A | ATGATGAT others(89): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0006 | a0001c0006t0004 | a0001c0006t0004g0075 | 1 | 202 | 0.0050 | 96 | c.857 others(115): Show |
GPR39 | ENSG00000183840.8 | transcript | ENST00000329321.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GPR39_chr2_132411805_132651582 | 132633993 | A | ATGATGAT others(89): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0003 | a0003c0010 | a0003c0010t0005 | a0003c0010t0005g0088 | 1 | 202 | 0.0050 | 96 | c.857 others(115): Show |
GPR39 | ENSG00000183840.8 | transcript | ENST00000329321.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GREB1_chr2_11529045_11647788 | 11618128 | A | AGATGGGC others(89): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0006 | a0006c0033 | a0006c0033t0034 | a0006c0033t0034g0303 | 1 | 297 | 0.0034 | 96 | c.341 others(113): Show |
GREB1 | ENSG00000196208.14 | transcript | ENST00000381486.7 | protein_coding | 21/32 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GREB1_chr2_11529045_11647788 | 11618128 | A | AGATGGGC others(89): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0044 | a0044c0092 | a0044c0092t0018 | a0044c0092t0018g0241 | 1 | 297 | 0.0034 | 96 | c.341 others(112): Show |
GREB1 | ENSG00000196208.14 | transcript | ENST00000381486.7 | protein_coding | 21/32 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GREB1_chr2_11529045_11647788 | 11618136 | C | CACTCCTG others(89): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0013 | a0013c0052 | a0013c0052t0049 | a0013c0052t0049g0261 | 1 | 82 | 0.0122 | 96 | c.341 others(113): Show |
GREB1 | ENSG00000196208.14 | transcript | ENST00000381486.7 | protein_coding | 21/32 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GREB1_chr2_11529045_11647788 | 11618136 | C | CACTCCTG others(89): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0216 | 1 | 82 | 0.0122 | 96 | c.341 others(113): Show |
GREB1 | ENSG00000196208.14 | transcript | ENST00000381486.7 | protein_coding | 21/32 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GREB1_chr2_11529045_11647788 | 11618136 | C | CACTCCTG others(89): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0188 | 1 | 82 | 0.0122 | 96 | c.341 others(111): Show |
GREB1 | ENSG00000196208.14 | transcript | ENST00000381486.7 | protein_coding | 21/32 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GREB1_chr2_11529045_11647788 | 11618136 | C | CACTCCTG others(89): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01074.hp2 HG01109.hp1 others(10): Show |
a0001a0002a0005others(5): Show | a0001c0001a0001c0013a0002c0005others(8): Show | a0001c0001t0002a0001c0013t0006a0002c0005t0001others(9): Show | a0001c0001t0002g0250 a0001c0013t0006g0181 a0002c0005t0001g0065 others(10): Show |
13 | 94 | 0.1383 | 96 | c.341 others(112): Show |
GREB1 | ENSG00000196208.14 | transcript | ENST00000381486.7 | protein_coding | 21/32 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GREB1_chr2_11529045_11647788 | 11618168 | G | GACTCCTG others(89): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0012 | a0012c0008 | a0012c0008t0003 | a0012c0008t0003g0027 | 1 | 289 | 0.0035 | 96 | c.341 others(111): Show |
GREB1 | ENSG00000196208.14 | transcript | ENST00000381486.7 | protein_coding | 21/32 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GREB1_chr2_11529045_11647788 | 11618200 | G | GACTCCTG others(89): Show |
intron_variant | MODIFIER | NA18995.hp1 NA19003.hp1 |
a0003a0004 | a0003c0076a0004c0026 | a0003c0076t0007a0004c0026t0004 | a0003c0076t0007g0114 a0004c0026t0004g0290 |
2 | 264 | 0.0076 | 96 | c.341 others(111): Show |
GREB1 | ENSG00000196208.14 | transcript | ENST00000381486.7 | protein_coding | 21/32 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GRHL1_chr2_9946693_10007277 | 9998524 | A | ATATATAC others(89): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0303 | 1 | 314 | 0.0032 | 96 | c.167 others(113): Show |
GRHL1 | ENSG00000134317.18 | transcript | ENST00000324907.14 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GRIA2_chr4_157215728_157371075 | 157248568 | T | TGTGTATA others(89): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0210 | 1 | 5 | 0.2000 | 96 | c.229 others(115): Show |
GRIA2 | ENSG00000120251.22 | transcript | ENST00000264426.14 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GRIA2_chr4_157215728_157371075 | 157248568 | T | TGTGTATA others(89): Show |
intron_variant | MODIFIER | HG01168.hp1 HG02738.hp1 HG03491.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0211 a0001c0001t0002g0126 a0001c0001t0002g0208 others(2): Show |
6 | 10 | 0.6000 | 96 | c.229 others(115): Show |
GRIA2 | ENSG00000120251.22 | transcript | ENST00000264426.14 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GRIK1_chr21_29531933_29944996 | 29707442 | C | CCCTTCCT others(89): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0127 | 1 | 142 | 0.0070 | 96 | c.119 others(115): Show |
GRIK1 | ENSG00000171189.18 | transcript | ENST00000327783.9 | protein_coding | 1/17 | chr21 | TogoVar | |||||||
GRIK1_chr21_29531933_29944996 | 29707450 | C | CCCTTCCT others(89): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0072 | 1 | 122 | 0.0082 | 96 | c.119 others(115): Show |
GRIK1 | ENSG00000171189.18 | transcript | ENST00000327783.9 | protein_coding | 1/17 | chr21 | TogoVar | |||||||
GRK5_chr10_119202571_119464745 | 119312939 | A | ATGGTGGT others(89): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01433.hp2 HG02717.hp1 |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0003a0001c0001t0044a0003c0002t0079 | a0001c0001t0003g0156 a0001c0001t0044g0157 a0003c0002t0079g0038 |
3 | 22 | 0.1364 | 96 | c.53- others(113): Show |
GRK5 | ENSG00000198873.12 | transcript | ENST00000392870.3 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GRK5_chr10_119202571_119464745 | 119312939 | A | ATGGTGGT others(89): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00733.hp2 HG00741.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(12): Show | a0001c0001t0001g0163 a0001c0001t0002g0012 a0001c0001t0005g0182 others(14): Show |
17 | 36 | 0.4722 | 96 | c.53- others(113): Show |
GRK5 | ENSG00000198873.12 | transcript | ENST00000392870.3 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GSE1_chr16_85608322_85681200 | 85653198 | C | CCTCCCCC others(89): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0012 | a0012c0030 | a0012c0030t0036 | a0012c0030t0036g0185 | 1 | 284 | 0.0035 | 96 | c.427 others(113): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
GUCY1A2_chr11_106669019_107023476 | 106709759 | G | GTTATATA others(89): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01069.hp2 HG01071.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0011 | a0001c0001t0010a0001c0001t0013a0002c0011t0013 | a0001c0001t0010g0033 a0001c0001t0010g0034 a0001c0001t0010g0105 others(4): Show |
7 | 126 | 0.0556 | 96 | c.183 others(115): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 6/7 | chr11 | TogoVar | |||||||
HAO2_chr1_119363785_119399130 | 119389137 | C | CATATATA others(89): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0215 | 1 | 109 | 0.0092 | 96 | c.771 others(113): Show |
HAO2 | ENSG00000116882.15 | transcript | ENST00000325945.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HAO2_chr1_119363785_119399130 | 119389137 | C | CATATATA others(89): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0208 | 1 | 109 | 0.0092 | 96 | c.771 others(113): Show |
HAO2 | ENSG00000116882.15 | transcript | ENST00000325945.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HAO2_chr1_119363785_119399130 | 119389137 | C | CATATATA others(89): Show |
intron_variant | MODIFIER | NA19072.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 109 | 0.0092 | 96 | c.771 others(113): Show |
HAO2 | ENSG00000116882.15 | transcript | ENST00000325945.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HAP1_chr17_41717640_41739643 | 41730094 | A | AGAGAAAG others(89): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0041 | a0041c0027 | a0041c0027t0008 | a0041c0027t0008g0123 | 1 | 258 | 0.0039 | 96 | c.106 others(115): Show |
HAP1 | ENSG00000173805.16 | transcript | ENST00000347901.9 | protein_coding | 6/10 | chr17 | TogoVar | |||||||
HAP1_chr17_41717640_41739643 | 41730094 | A | AGAGAAAG others(89): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0010 | a0010c0010 | a0010c0010t0005 | a0010c0010t0005g0124 | 1 | 258 | 0.0039 | 96 | c.106 others(115): Show |
HAP1 | ENSG00000173805.16 | transcript | ENST00000347901.9 | protein_coding | 6/10 | chr17 | TogoVar | |||||||
HCN2_chr19_584881_622159 | 585300 | T | TGGGGTGC others(89): Show |
upstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01943.hp2 others(5): Show |
a0001a0002 | a0001c0006a0001c0008a0001c0015others(3): Show | a0001c0006t0002a0001c0008t0002a0001c0015t0005others(3): Show | a0001c0006t0002g0027 a0001c0006t0002g0216 a0001c0008t0002g0130 others(4): Show |
8 | 188 | 0.0426 | 96 | c.-46 others(107): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 4580 | chr19 | TogoVar | |||||||
HCN2_chr19_584881_622159 | 585300 | T | TGGGGTGC others(89): Show |
upstream_gene_variant | MODIFIER | HG02723.hp2 HG03209.hp1 NA19043.hp1 |
a0001a0002 | a0001c0034a0002c0016a0002c0050 | a0001c0034t0004a0002c0016t0006a0002c0050t0002 | a0001c0034t0004g0043 a0002c0016t0006g0315 a0002c0050t0002g0361 |
3 | 183 | 0.0164 | 96 | c.-46 others(107): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 4580 | chr19 | TogoVar | |||||||
HCN2_chr19_584881_622159 | 585322 | A | ACCCCGTC others(89): Show |
upstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0379 | 1 | 370 | 0.0027 | 96 | c.-46 others(107): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 4558 | chr19 | TogoVar | |||||||
HCN2_chr19_584881_622159 | 585322 | A | ACCCCGTC others(89): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0091 | a0001c0091t0012 | a0001c0091t0012g0380 | 1 | 370 | 0.0027 | 96 | c.-46 others(107): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 4558 | chr19 | TogoVar | |||||||
HCN2_chr19_584881_622159 | 585441 | C | CGGAGGGG others(89): Show |
upstream_gene_variant | MODIFIER | HG02132.hp2 HG02155.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0238 a0001c0001t0002g0237 |
2 | 390 | 0.0051 | 96 | c.-45 others(107): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 4439 | chr19 | TogoVar | |||||||
HCN2_chr19_584881_622159 | 613590 | T | TGGGGATG others(89): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG01070.hp1 others(12): Show |
a0001a0002a0006others(2): Show | a0001c0015a0001c0034a0001c0096others(7): Show | a0001c0015t0005a0001c0034t0005a0001c0096t0003others(8): Show | a0001c0015t0005g0007 a0001c0015t0005g0148 a0001c0034t0005g0035 others(10): Show |
15 | 398 | 0.0377 | 96 | c.182 others(113): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HDGFL3_chr15_83122753_83212823 | 83187222 | C | CTAAATCT others(89): Show |
intron_variant | MODIFIER | HG02895.hp2 HG03139.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0230 a0001c0001t0005g0231 a0001c0001t0005g0232 |
3 | 244 | 0.0123 | 96 | c.84+ others(113): Show |
HDGFL3 | ENSG00000166503.9 | transcript | ENST00000299633.7 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
HERC3_chr4_88587480_88713539 | 88698989 | T | TTTCCTCA others(89): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00642.hp2 HG01071.hp1 others(20): Show |
a0001 | a0001c0001a0001c0005a0001c0007 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(2): Show | a0001c0001t0001g0035 a0001c0001t0001g0136 a0001c0001t0001g0166 others(19): Show |
23 | 208 | 0.1106 | 96 | c.265 others(115): Show |
HERC3 | ENSG00000138641.18 | transcript | ENST00000402738.6 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HERC3_chr4_88587480_88713539 | 88698989 | T | TTTCCTCA others(89): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0092 | 1 | 186 | 0.0054 | 96 | c.265 others(115): Show |
HERC3 | ENSG00000138641.18 | transcript | ENST00000402738.6 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HERC3_chr4_88587480_88713539 | 88699028 | C | CACCCTCT others(89): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00621.hp2 HG02056.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0004t0003 | a0001c0001t0003g0067 a0001c0001t0003g0069 a0001c0001t0003g0197 others(2): Show |
5 | 214 | 0.0234 | 96 | c.265 others(115): Show |
HERC3 | ENSG00000138641.18 | transcript | ENST00000402738.6 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HERC4_chr10_67916905_68080283 | 68059855 | C | CATAATAT others(89): Show |
intron_variant | MODIFIER | HG02040.hp1 HG03239.hp2 HG03688.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 a0001c0001t0001g0181 a0001c0001t0001g0184 others(1): Show |
4 | 160 | 0.0250 | 96 | c.226 others(115): Show |
HERC4 | ENSG00000148634.16 | transcript | ENST00000373700.9 | protein_coding | 3/24 | chr10 | TogoVar | |||||||
HERC6_chr4_88373852_88448097 | 88379742 | A | ATATATAA others(89): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01192.hp1 HG03239.hp2 |
a0001a0002a0010 | a0001c0001a0002c0002a0010c0014 | a0001c0001t0001a0002c0002t0001a0010c0014t0004 | a0001c0001t0001g0078 a0002c0002t0001g0080 a0010c0014t0004g0079 |
3 | 129 | 0.0233 | 96 | c.199 others(111): Show |
HERC6 | ENSG00000138642.16 | transcript | ENST00000264346.12 | protein_coding | 1/22 | chr4 | TogoVar | |||||||
HERC6_chr4_88373852_88448097 | 88380374 | T | TATATATA others(89): Show |
intron_variant | MODIFIER | HG00639.hp1 HG03942.hp1 |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0005c0007t0001 | a0001c0001t0001g0116 a0005c0007t0001g0092 |
2 | 88 | 0.0227 | 96 | c.199 others(113): Show |
HERC6 | ENSG00000138642.16 | transcript | ENST00000264346.12 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |