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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASAP2_chr2_9201812_9410678 | 9254236 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01256.hp1 HG03239.hp2 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0002a0002c0001t0001 | a0001c0002t0002g0016a0001c0002t0002g0177a0002c0001t0001g0140 | 3 | 210 | 0.0143 | 18 | c.127 others(37): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ASAP2_chr2_9201812_9410678 | 9270785 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0003 | a0001c0003t0011 | a0001c0003t0011g0068 | 1 | 210 | 0.0048 | 18 | c.127 others(35): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ASAP2_chr2_9201812_9410678 | 9367027 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01891.hp2 NA19043.hp2 |
a0001 | a0001c0006a0001c0013 | a0001c0006t0004a0001c0013t0017 | a0001c0006t0004g0032a0001c0013t0017g0045 | 2 | 210 | 0.0095 | 18 | c.146 others(37): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ASAP2_chr2_9201812_9410678 | 9397750 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0185 | 1 | 210 | 0.0048 | 18 | c.268 others(37): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 24/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ASAP3_chr1_23423563_23489179 | 23473974 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02965.hp1 HG02976.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0004t0001 | a0001c0001t0004g0165a0001c0004t0001g0157 | 2 | 346 | 0.0058 | 18 | c.129 others(37): Show |
ASAP3 | ENSG00000088280.21 | transcript | ENST00000336689.8 | protein_coding | 1/24 | chr1 | TogoVar | ||||||
ASB11_chrX_15276697_15320640 | 15278635 | C | CAAAAAAA others(11): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG01257.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0005a0001c0001t0002g0063a0001c0001t0002g0067others(2): Show | 6 | 306 | 0.0196 | 18 | c.*48 others(29): Show |
ASB11 | ENSG00000165192.14 | transcript | ENST00000480796.6 | protein_coding | 3061 | chrX | TogoVar | ||||||
ASB11_chrX_15276697_15320640 | 15309967 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01361.hp2 HG01993.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0071a0001c0001t0002g0084a0001c0001t0002g0091others(2): Show | 5 | 306 | 0.0163 | 18 | c.181 others(35): Show |
ASB11 | ENSG00000165192.14 | transcript | ENST00000480796.6 | protein_coding | 1/6 | chrX | TogoVar | ||||||
ASB14_chr3_57263342_57297685 | 57281326 | A | AGGGCTGG others(11): Show |
intron_variant | MODIFIER | HG01257.hp2 HG02145.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133a0001c0001t0001g0134 | 2 | 336 | 0.0060 | 18 | c.716 others(33): Show |
ASB14 | ENSG00000239388.10 | transcript | ENST00000487349.6 | protein_coding | 6/10 | chr3 | TogoVar | ||||||
ASB14_chr3_57263342_57297685 | 57284088 | C | CTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0247 | 1 | 336 | 0.0030 | 18 | c.470 others(33): Show |
ASB14 | ENSG00000239388.10 | transcript | ENST00000487349.6 | protein_coding | 5/10 | chr3 | TogoVar | ||||||
ASB14_chr3_57263342_57297685 | 57284094 | A | ATGTATGT others(11): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 336 | 0.0030 | 18 | c.470 others(33): Show |
ASB14 | ENSG00000239388.10 | transcript | ENST00000487349.6 | protein_coding | 5/10 | chr3 | TogoVar | ||||||
ASB14_chr3_57263342_57297685 | 57284094 | A | ATGTGTGT others(11): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00621.hp1 others(21): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0030a0001c0001t0001g0052a0001c0001t0001g0067others(20): Show | 24 | 336 | 0.0714 | 18 | c.470 others(33): Show |
ASB14 | ENSG00000239388.10 | transcript | ENST00000487349.6 | protein_coding | 5/10 | chr3 | TogoVar | ||||||
ASB15_chr7_123596821_123644481 | 123597917 | C | CGTGTGTG others(11): Show |
upstream_gene_variant | MODIFIER | HG02622.hp2 HG03041.hp1 NA18906.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0007a0001c0002t0001g0110a0001c0002t0001g0111 | 3 | 380 | 0.0079 | 18 | c.-42 others(29): Show |
ASB15 | ENSG00000146809.14 | transcript | ENST00000451215.6 | protein_coding | 3903 | chr7 | TogoVar | ||||||
ASB15_chr7_123596821_123644481 | 123637878 | T | TAAAAAAA others(11): Show |
3_prime_UTR_variant | MODIFIER | HG02559.hp2 NA18747.hp2 |
a0001a0007 | a0001c0001a0007c0010 | a0001c0001t0037a0007c0010t0025 | a0001c0001t0037g0244a0007c0010t0025g0127 | 2 | 380 | 0.0053 | 18 | c.*90 others(27): Show |
ASB15 | ENSG00000146809.14 | transcript | ENST00000451215.6 | protein_coding | 12/12 | 920 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||
ASB18_chr2_236188459_236269406 | 236202794 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 250 | 0.0040 | 18 | c.110 others(37): Show |
ASB18 | ENSG00000182177.15 | transcript | ENST00000409749.8 | protein_coding | 4/5 | chr2 | TogoVar | ||||||
ASB18_chr2_236188459_236269406 | 236202794 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02293.hp1 HG02300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031a0001c0001t0001g0073 | 2 | 250 | 0.0080 | 18 | c.110 others(37): Show |
ASB18 | ENSG00000182177.15 | transcript | ENST00000409749.8 | protein_coding | 4/5 | chr2 | TogoVar | ||||||
ASB18_chr2_236188459_236269406 | 236202794 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01515.hp1 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069a0001c0001t0001g0071a0001c0001t0001g0151 | 3 | 250 | 0.0120 | 18 | c.110 others(37): Show |
ASB18 | ENSG00000182177.15 | transcript | ENST00000409749.8 | protein_coding | 4/5 | chr2 | TogoVar | ||||||
ASB18_chr2_236188459_236269406 | 236238610 | G | GGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 250 | 0.0040 | 18 | c.329 others(33): Show |
ASB18 | ENSG00000182177.15 | transcript | ENST00000409749.8 | protein_coding | 2/5 | chr2 | TogoVar | ||||||
ASB5_chr4_176208673_176274222 | 176219575 | G | GATATATA others(11): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02615.hp2 HG02622.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103a0001c0001t0001g0141a0001c0001t0001g0142others(3): Show | 6 | 410 | 0.0146 | 18 | c.670 others(35): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | ||||||
ASB6_chr9_129629605_129647151 | 129644281 | T | TCTTGCAC others(11): Show |
upstream_gene_variant | MODIFIER | NA19054.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0016 | 1 | 422 | 0.0024 | 18 | c.-22 others(29): Show |
ASB6 | ENSG00000148331.12 | transcript | ENST00000277458.5 | protein_coding | 2131 | chr9 | TogoVar | ||||||
ASB7_chr15_100597589_100656701 | 100600551 | C | CAAAAAAA others(11): Show |
upstream_gene_variant | MODIFIER | HG01099.hp1 HG01243.hp1 HG03041.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0008others(1): Show | a0001c0001t0001g0039a0001c0001t0002g0210a0001c0002t0008g0037others(1): Show | 4 | 368 | 0.0109 | 18 | c.-27 others(29): Show |
ASB7 | ENSG00000183475.13 | transcript | ENST00000332783.12 | protein_coding | 2037 | chr15 | TogoVar | ||||||
ASB7_chr15_100597589_100656701 | 100611484 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00621.hp1 others(48): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0019others(42): Show | 51 | 368 | 0.1386 | 18 | c.-51 others(33): Show |
ASB7 | ENSG00000183475.13 | transcript | ENST00000332783.12 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ASB8_chr12_48142789_48162515 | 48158545 | T | TTTATTAT others(11): Show |
upstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 450 | 0.0022 | 18 | c.-11 others(29): Show |
ASB8 | ENSG00000177981.11 | transcript | ENST00000317697.8 | protein_coding | 1031 | chr12 | TogoVar | ||||||
ASCC1_chr10_72091032_72221276 | 72131439 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0044 | 1 | 216 | 0.0046 | 18 | c.871 others(35): Show |
ASCC1 | ENSG00000138303.19 | transcript | ENST00000672957.1 | protein_coding | 8/9 | chr10 | TogoVar | ||||||
ASCC1_chr10_72091032_72221276 | 72198852 | T | TGTCACCC others(11): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 | 1 | 216 | 0.0046 | 18 | c.311 others(35): Show |
ASCC1 | ENSG00000138303.19 | transcript | ENST00000672957.1 | protein_coding | 4/9 | chr10 | TogoVar | ||||||
ASCC1_chr10_72091032_72221276 | 72218145 | C | CAAAAAAA others(11): Show |
upstream_gene_variant | MODIFIER | NA19074.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0176 | 1 | 216 | 0.0046 | 18 | c.-19 others(29): Show |
ASCC1 | ENSG00000138303.19 | transcript | ENST00000672957.1 | protein_coding | 1870 | chr10 | TogoVar | ||||||
ASCC2_chr22_29783611_29843274 | 29838203 | T | TGCCGCCG others(11): Show |
5_prime_UTR_variant | MODIFIER | HG02040.hp1 | a0004 | a0004c0004 | a0004c0004t0013 | a0004c0004t0013g0065 | 1 | 372 | 0.0027 | 18 | c.-61 others(25): Show |
ASCC2 | ENSG00000100325.15 | transcript | ENST00000307790.8 | protein_coding | 1/20 | 5879 | chr22 | TogoVar | |||||
ASCC3_chr6_100503194_100886329 | 100597809 | G | GAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00609.hp1 HG01346.hp1 others(37): Show |
a0001a0002a0004others(4): Show | a0001c0002a0001c0019a0001c0020others(6): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(10): Show | a0001c0002t0001g0290a0001c0002t0002g0084a0001c0002t0002g0088others(37): Show | 40 | 314 | 0.1274 | 18 | c.530 others(37): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 34/41 | chr6 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100608080 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0061a0002c0003t0002g0062 | 2 | 314 | 0.0064 | 18 | c.478 others(35): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 30/41 | chr6 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100608731 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0079 | 1 | 314 | 0.0032 | 18 | c.478 others(37): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 30/41 | chr6 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100608731 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | HG03831.hp2 HG03834.hp1 |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0003a0003c0004t0004 | a0001c0002t0003g0080a0003c0004t0004g0180 | 2 | 314 | 0.0064 | 18 | c.478 others(37): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 30/41 | chr6 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100608731 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01192.hp2 HG01496.hp1 others(11): Show |
a0001a0004a0005 | a0001c0002a0004c0008a0005c0022 | a0001c0002t0002a0001c0002t0003a0004c0008t0003others(1): Show | a0001c0002t0002g0083a0001c0002t0003g0082a0001c0002t0003g0099others(11): Show | 14 | 314 | 0.0446 | 18 | c.478 others(37): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 30/41 | chr6 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100661323 | T | TCACACAC others(11): Show |
intron_variant | MODIFIER | HG01515.hp1 NA19007.hp1 |
a0001a0002 | a0001c0006a0002c0003 | a0001c0006t0005a0002c0003t0002 | a0001c0006t0005g0165a0002c0003t0002g0158 | 2 | 314 | 0.0064 | 18 | c.270 others(35): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 16/41 | chr6 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100661323 | T | TCGCACAC others(11): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02004.hp2 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0028a0002c0003t0002g0035 | 2 | 314 | 0.0064 | 18 | c.270 others(35): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 16/41 | chr6 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100681725 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01952.hp1 HG03831.hp2 |
a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0177a0003c0004t0004g0180a0003c0004t0004g0193 | 3 | 314 | 0.0096 | 18 | c.215 others(37): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 13/41 | chr6 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100687032 | T | TCACACAC others(11): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0010 | a0010c0035 | a0010c0035t0002 | a0010c0035t0002g0044 | 1 | 314 | 0.0032 | 18 | c.215 others(37): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 13/41 | chr6 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100740236 | G | GTGGTTTT others(11): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0058 | 1 | 314 | 0.0032 | 18 | c.173 others(39): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 10/41 | chr6 | TogoVar | ||||||
ASCL1_chr12_102952674_102965513 | 102958393 | C | CGCAGCAG others(11): Show |
conservative_inframe_insertion | MODERATE | HG02723.hp1 | a0013 | a0013c0016 | a0013c0016t0017 | a0013c0016t0017g0001 | 1 | 354 | 0.0028 | 18 | c.169 others(25): Show |
p.Gln others(11): Show |
ASCL1 | ENSG00000139352.4 | transcript | ENST00000266744.4 | protein_coding | 1/2 | 758/2481 | 187/711 | 63/236 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |
ASCL1_chr12_102952674_102965513 | 102962372 | T | TTTTCTTT others(11): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 HG00639.hp1 HG00741.hp2 others(33): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0002a0003c0003t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0002c0002t0002g0001others(3): Show | 36 | 354 | 0.1017 | 18 | c.*30 others(29): Show |
ASCL1 | ENSG00000139352.4 | transcript | ENST00000266744.4 | protein_coding | 1860 | chr12 | TogoVar | ||||||
ASCL1_chr12_102952674_102965513 | 102962431 | C | CCTTCCTT others(11): Show |
downstream_gene_variant | MODIFIER | HG02723.hp2 | a0005 | a0005c0004 | a0005c0004t0013 | a0005c0004t0013g0001 | 1 | 354 | 0.0028 | 18 | c.*31 others(29): Show |
ASCL1 | ENSG00000139352.4 | transcript | ENST00000266744.4 | protein_coding | 1919 | chr12 | TogoVar | ||||||
ASCL1_chr12_102952674_102965513 | 102962471 | T | TTTCTTTC others(11): Show |
downstream_gene_variant | MODIFIER | HG00733.hp2 HG02004.hp1 HG02083.hp2 others(4): Show |
a0002 | a0002c0002a0002c0009 | a0002c0002t0002a0002c0009t0006 | a0002c0002t0002g0001a0002c0009t0006g0001 | 7 | 354 | 0.0198 | 18 | c.*31 others(29): Show |
ASCL1 | ENSG00000139352.4 | transcript | ENST00000266744.4 | protein_coding | 1959 | chr12 | TogoVar | ||||||
ASCL3_chr11_8932578_8948016 | 8936744 | C | CTTTTTTT others(11): Show |
downstream_gene_variant | MODIFIER | HG02683.hp2 HG02895.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0030 | 3 | 440 | 0.0068 | 18 | c.*87 others(27): Show |
ASCL3 | ENSG00000176009.4 | transcript | ENST00000531618.2 | protein_coding | 833 | chr11 | TogoVar | ||||||
ASCL4_chr12_107769704_107781644 | 107773043 | A | AAATAATA others(11): Show |
upstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0000 | 1 | 462 | 0.0022 | 18 | c.-21 others(29): Show |
ASCL4 | ENSG00000187855.6 | transcript | ENST00000342331.5 | protein_coding | 1660 | chr12 | TogoVar | ||||||
ASCL5_chr1_201108943_201132184 | 201111063 | G | GGGGGCTA others(11): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG02055.hp1 others(15): Show |
a0001a0004a0007 | a0001c0001a0004c0004a0007c0007 | a0001c0001t0001a0001c0001t0010a0001c0001t0016others(2): Show | a0001c0001t0001g0008a0001c0001t0010g0035a0001c0001t0010g0085others(6): Show | 18 | 418 | 0.0431 | 18 | c.*36 others(29): Show |
ASCL5 | ENSG00000232237.5 | transcript | ENST00000449188.3 | protein_coding | 2879 | chr1 | TogoVar | ||||||
ASCL5_chr1_201108943_201132184 | 201111065 | G | GGGCTACT others(11): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 | a0004 | a0004c0004 | a0004c0004t0005 | a0004c0004t0005g0078 | 1 | 418 | 0.0024 | 18 | c.*36 others(29): Show |
ASCL5 | ENSG00000232237.5 | transcript | ENST00000449188.3 | protein_coding | 2877 | chr1 | TogoVar | ||||||
ASDURF_chr2_189656459_189671401 | 189665612 | A | ATATACAT others(11): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 340 | 0.0029 | 18 | c.220 others(33): Show |
ASDURF | ENSG00000286053.2 | transcript | ENST00000607829.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ASGR2_chr17_7096326_7119822 | 7097662 | A | ATGTGTGT others(11): Show |
downstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0216 | 1 | 432 | 0.0023 | 18 | c.*39 others(29): Show |
ASGR2 | ENSG00000161944.17 | transcript | ENST00000691900.1 | protein_coding | 3663 | chr17 | TogoVar | ||||||
ASGR2_chr17_7096326_7119822 | 7097666 | A | ATGTGTGT others(11): Show |
downstream_gene_variant | MODIFIER | HG02886.hp2 NA19072.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0244a0001c0002t0001g0228 | 2 | 432 | 0.0046 | 18 | c.*39 others(29): Show |
ASGR2 | ENSG00000161944.17 | transcript | ENST00000691900.1 | protein_coding | 3659 | chr17 | TogoVar | ||||||
ASGR2_chr17_7096326_7119822 | 7107768 | T | TACACATT others(11): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02027.hp1 HG02040.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0242a0001c0001t0002g0024a0001c0001t0002g0060others(4): Show | 8 | 432 | 0.0185 | 18 | c.409 others(31): Show |
ASGR2 | ENSG00000161944.17 | transcript | ENST00000691900.1 | protein_coding | 5/8 | chr17 | TogoVar | ||||||
ASGR2_chr17_7096326_7119822 | 7107768 | T | TACACATT others(11): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00558.hp2 others(128): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0123others(93): Show | 131 | 432 | 0.3032 | 18 | c.409 others(31): Show |
ASGR2 | ENSG00000161944.17 | transcript | ENST00000691900.1 | protein_coding | 5/8 | chr17 | TogoVar | ||||||
ASH1L_chr1_155330268_155567803 | 155332460 | G | GTATATAT others(11): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0182 | 1 | 182 | 0.0055 | 18 | c.*51 others(29): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 2807 | chr1 | TogoVar |