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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARHGEF17_chr11_73303276_73374388 | 73329350 | TATATATA others(16): Show |
T | intron_variant | MODIFIER | HG03490.hp1 | a0019 | a0019c0041 | a0019c0041t0016 | a0019c0041t0016g0154 | 1 | 228 | 0.0044 | -23 | c.319 others(44): Show |
ARHGEF17 | ENSG00000110237.5 | transcript | ENST00000263674.4 | protein_coding | 1/20 | chr11 | TogoVar | ||||||
ARHGEF17_chr11_73303276_73374388 | 73329353 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 228 | 0.0044 | -23 | c.319 others(44): Show |
ARHGEF17 | ENSG00000110237.5 | transcript | ENST00000263674.4 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ARHGEF18_chr19_7343937_7477478 | 7350764 | GTGGGTGT others(16): Show |
G | intron_variant | MODIFIER | NA18989.hp1 | a0027 | a0027c0031 | a0027c0031t0013 | a0027c0031t0013g0036 | 1 | 298 | 0.0034 | -23 | c.-11 others(42): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 1/28 | chr19 | TogoVar | ||||||
ARHGEF18_chr19_7343937_7477478 | 7455510 | CCAAGGGG others(16): Show |
C | intron_variant | MODIFIER | NA18944.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0207 | 1 | 298 | 0.0034 | -23 | c.210 others(40): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 17/28 | chr19 | TogoVar | ||||||
ARHGEF28_chr5_73621196_73946990 | 73671716 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | NA19030.hp2 | a0007 | a0007c0009 | a0007c0009t0009 | a0007c0009t0009g0164 | 1 | 188 | 0.0053 | -23 | c.-11 others(42): Show |
ARHGEF28 | ENSG00000214944.10 | transcript | ENST00000513042.7 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ARHGEF28_chr5_73621196_73946990 | 73733956 | AGCAAAGG others(16): Show |
A | intron_variant | MODIFIER | NA19010.hp2 | a0020 | a0020c0078 | a0020c0078t0004 | a0020c0078t0004g0051 | 1 | 188 | 0.0053 | -23 | c.34- others(40): Show |
ARHGEF28 | ENSG00000214944.10 | transcript | ENST00000513042.7 | protein_coding | 2/35 | chr5 | TogoVar | ||||||
ARHGEF38_chr4_105547620_105685914 | 105561401 | AATAGAAT others(16): Show |
A | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0096 | 1 | 186 | 0.0054 | -23 | c.196 others(40): Show |
ARHGEF38 | ENSG00000236699.9 | transcript | ENST00000420470.3 | protein_coding | 1/13 | chr4 | TogoVar | ||||||
ARHGEF7_chr13_111110310_111310732 | 111139572 | CGTGGAGC others(16): Show |
C | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0252 | 1 | 274 | 0.0037 | -23 | c.166 others(42): Show |
ARHGEF7 | ENSG00000102606.20 | transcript | ENST00000646102.2 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ARID1B_chr6_156772378_157215779 | 157004890 | CTTTTTTC others(16): Show |
C | intron_variant | MODIFIER | HG02647.hp2 HG03041.hp1 HG03195.hp2 others(1): Show |
a0001a0002a0008others(1): Show | a0001c0001a0002c0014a0008c0005others(1): Show | a0001c0001t0006a0002c0014t0002a0008c0005t0002others(1): Show | a0001c0001t0006g0089a0002c0014t0002g0029a0008c0005t0002g0052others(1): Show | 4 | 150 | 0.0267 | -23 | c.224 others(44): Show |
ARID1B | ENSG00000049618.25 | transcript | ENST00000636930.2 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ARID3B_chr15_74536220_74603131 | 74570462 | CAAAAAAA others(16): Show |
C | intron_variant | MODIFIER | NA20905.hp1 NA20905.hp2 |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0001a0002c0004t0010 | a0001c0002t0001g0264a0002c0004t0010g0276 | 2 | 338 | 0.0059 | -23 | c.553 others(40): Show |
ARID3B | ENSG00000179361.18 | transcript | ENST00000346246.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ARID4B_chr1_235161902_235333179 | 235173770 | AAATATAT others(16): Show |
A | intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 272 | 0.0037 | -23 | c.366 others(42): Show |
ARID4B | ENSG00000054267.22 | transcript | ENST00000264183.9 | protein_coding | 22/23 | chr1 | TogoVar | ||||||
ARID5B_chr10_61896699_62101944 | 61940947 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0196 | 1 | 242 | 0.0041 | -23 | c.502 others(38): Show |
ARID5B | ENSG00000150347.17 | transcript | ENST00000279873.12 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ARID5B_chr10_61896699_62101944 | 62027285 | CTTTTTTT others(16): Show |
C | intron_variant | MODIFIER | HG03041.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0159a0001c0001t0005g0199 | 2 | 242 | 0.0083 | -23 | c.734 others(42): Show |
ARID5B | ENSG00000150347.17 | transcript | ENST00000279873.12 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ARL10_chr5_176360487_176386909 | 176375319 | TCCATCCA others(16): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02886.hp2 HG02970.hp2 HG03486.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0031a0001c0003t0063 | a0001c0001t0031g0135a0001c0001t0031g0136a0001c0003t0063g0091 | 3 | 418 | 0.0072 | -23 | c.*34 others(34): Show |
ARL10 | ENSG00000175414.7 | transcript | ENST00000310389.6 | protein_coding | 4/4 | 3442 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||
ARL14EPL_chr5_116027472_116064489 | 116036305 | GAAAGCTT others(16): Show |
G | intron_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243 | 1 | 462 | 0.0022 | -23 | c.-10 others(40): Show |
ARL14EPL | ENSG00000268223.7 | transcript | ENST00000686077.1 | protein_coding | 1/3 | chr5 | TogoVar | ||||||
ARL15_chr5_53878942_54315573 | 53899347 | CAAAAAAA others(16): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG00741.hp2 HG01069.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0067a0001c0001t0001g0149a0001c0001t0001g0195others(12): Show | 15 | 206 | 0.0728 | -23 | c.463 others(42): Show |
ARL15 | ENSG00000185305.12 | transcript | ENST00000504924.6 | protein_coding | 4/4 | chr5 | TogoVar | ||||||
ARL6IP5_chr3_69079937_69111092 | 69107453 | GTTTTTTT others(16): Show |
G | downstream_gene_variant | MODIFIER | HG02970.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0146a0001c0001t0009g0135 | 2 | 434 | 0.0046 | -23 | c.*28 others(34): Show |
ARL6IP5 | ENSG00000144746.7 | transcript | ENST00000273258.4 | protein_coding | 1362 | chr3 | TogoVar | ||||||
ARMC8_chr3_138182301_138303373 | 138201436 | CTTTTTTT others(16): Show |
C | intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 246 | 0.0041 | -23 | c.46- others(38): Show |
ARMC8 | ENSG00000114098.18 | transcript | ENST00000469044.6 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ARRDC1_chr9_137600686_137620360 | 137601232 | TATATATA others(16): Show |
T | upstream_gene_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 338 | 0.0030 | -23 | c.-44 others(34): Show |
ARRDC1 | ENSG00000197070.14 | transcript | ENST00000371421.9 | protein_coding | 4453 | chr9 | TogoVar | ||||||
ARRDC1_chr9_137600686_137620360 | 137601236 | TATATATA others(16): Show |
T | upstream_gene_variant | MODIFIER | HG02129.hp1 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 2 | 338 | 0.0059 | -23 | c.-44 others(34): Show |
ARRDC1 | ENSG00000197070.14 | transcript | ENST00000371421.9 | protein_coding | 4449 | chr9 | TogoVar | ||||||
ARRDC1_chr9_137600686_137620360 | 137601237 | ATATATAT others(16): Show |
A | upstream_gene_variant | MODIFIER | HG00323.hp2 HG02895.hp1 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0014 | 3 | 338 | 0.0089 | -23 | c.-44 others(34): Show |
ARRDC1 | ENSG00000197070.14 | transcript | ENST00000371421.9 | protein_coding | 4448 | chr9 | TogoVar | ||||||
ARRDC1_chr9_137600686_137620360 | 137601239 | ATATATAT others(16): Show |
A | upstream_gene_variant | MODIFIER | HG01167.hp2 HG01943.hp1 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0004a0001c0001t0003g0013 | 3 | 338 | 0.0089 | -23 | c.-44 others(34): Show |
ARRDC1 | ENSG00000197070.14 | transcript | ENST00000371421.9 | protein_coding | 4446 | chr9 | TogoVar | ||||||
ARRDC1_chr9_137600686_137620360 | 137601241 | ATATATAT others(16): Show |
A | upstream_gene_variant | MODIFIER | HG01978.hp1 HG02273.hp1 NA19001.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0049 | 3 | 338 | 0.0089 | -23 | c.-44 others(34): Show |
ARRDC1 | ENSG00000197070.14 | transcript | ENST00000371421.9 | protein_coding | 4444 | chr9 | TogoVar | ||||||
ARRDC4_chr15_97955703_97978833 | 97977565 | GTTCACTG others(16): Show |
G | downstream_gene_variant | MODIFIER | NA19089.hp2 | a0002 | a0002c0002 | a0002c0002t0034 | a0002c0002t0034g0027 | 1 | 422 | 0.0024 | -23 | c.*63 others(34): Show |
ARRDC4 | ENSG00000140450.9 | transcript | ENST00000268042.7 | protein_coding | 3733 | chr15 | TogoVar | ||||||
ARSB_chr5_78772209_78990310 | 78911572 | TAAAAAAA others(16): Show |
T | intron_variant | MODIFIER | HG01496.hp1 HG02896.hp1 HG03225.hp1 |
a0002 | a0002c0002a0002c0013 | a0002c0002t0006a0002c0002t0052a0002c0013t0017 | a0002c0002t0006g0014a0002c0002t0052g0098a0002c0013t0017g0015 | 3 | 360 | 0.0083 | -23 | c.899 others(42): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 4/7 | chr5 | TogoVar | ||||||
ARSH_chrX_3001546_3039111 | 3012553 | AAAAAAAA others(16): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197a0001c0001t0001g0198 | 2 | 248 | 0.0081 | -23 | c.215 others(38): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ART1_chr11_3640128_3669416 | 3647638 | TAAATAAA others(16): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02257.hp1 HG02280.hp2 others(8): Show |
a0002a0003 | a0002c0002a0002c0011a0003c0003 | a0002c0002t0002a0002c0011t0001a0003c0003t0001others(1): Show | a0002c0002t0002g0057a0002c0011t0001g0058a0003c0003t0001g0056others(7): Show | 11 | 394 | 0.0279 | -23 | c.-53 others(40): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ART1_chr11_3640128_3669416 | 3663053 | CTCATCTC others(16): Show |
C | intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0057 | 1 | 394 | 0.0025 | -23 | c.887 others(40): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ASB15_chr7_123596821_123644481 | 123620532 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | HG02165.hp1 HG03579.hp2 NA18747.hp1 others(2): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0022a0002c0003t0002a0002c0003t0008 | a0001c0002t0022g0263a0002c0003t0002g0230a0002c0003t0008g0200others(2): Show | 5 | 380 | 0.0132 | -23 | c.451 others(40): Show |
ASB15 | ENSG00000146809.14 | transcript | ENST00000451215.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ASB15_chr7_123596821_123644481 | 123620534 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | HG02055.hp2 NA18981.hp2 NA18984.hp2 others(1): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0003a0002c0003t0002 | a0001c0002t0003g0167a0002c0003t0002g0016a0002c0003t0002g0146 | 4 | 380 | 0.0105 | -23 | c.451 others(40): Show |
ASB15 | ENSG00000146809.14 | transcript | ENST00000451215.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ASB15_chr7_123596821_123644481 | 123620536 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0112 | 1 | 380 | 0.0026 | -23 | c.451 others(40): Show |
ASB15 | ENSG00000146809.14 | transcript | ENST00000451215.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ASB5_chr4_176208673_176274222 | 176218324 | TATATATA others(16): Show |
T | intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0340 | 1 | 410 | 0.0024 | -23 | c.671 others(40): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | ||||||
ASB5_chr4_176208673_176274222 | 176219241 | AATATATA others(16): Show |
A | intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0309 | 1 | 410 | 0.0024 | -23 | c.670 others(40): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | ||||||
ASB5_chr4_176208673_176274222 | 176219396 | TTGTATGA others(16): Show |
T | intron_variant | MODIFIER | HG00673.hp2 HG01123.hp2 HG01346.hp2 others(19): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0016a0001c0001t0001g0098a0001c0001t0001g0109others(19): Show | 22 | 410 | 0.0537 | -23 | c.670 others(40): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | ||||||
ASCC1_chr10_72091032_72221276 | 72218166 | ATATATAT others(16): Show |
A | upstream_gene_variant | MODIFIER | HG02723.hp2 HG02895.hp2 HG03453.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0021a0001c0001t0002g0152a0001c0001t0002g0154others(2): Show | 5 | 216 | 0.0232 | -23 | c.-20 others(34): Show |
ASCC1 | ENSG00000138303.19 | transcript | ENST00000672957.1 | protein_coding | 1891 | chr10 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100870211 | AAATGCAT others(16): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG01081.hp1 HG01952.hp2 |
a0001 | a0001c0001a0001c0015 | a0001c0001t0001a0001c0015t0001 | a0001c0001t0001g0280a0001c0001t0001g0284a0001c0015t0001g0281 | 3 | 314 | 0.0096 | -23 | c.-41 others(40): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 1/41 | chr6 | TogoVar | ||||||
ASGR2_chr17_7096326_7119822 | 7098427 | AACTTCTA others(16): Show |
A | downstream_gene_variant | MODIFIER | HG00609.hp1 HG00738.hp2 HG01074.hp1 others(61): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0017others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0003a0001c0001t0001g0031a0001c0001t0001g0161others(48): Show | 64 | 432 | 0.1482 | -23 | c.*31 others(34): Show |
ASGR2 | ENSG00000161944.17 | transcript | ENST00000691900.1 | protein_coding | 2898 | chr17 | TogoVar | ||||||
ASH1L_chr1_155330268_155567803 | 155490968 | CAAAAAAA others(16): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG02922.hp2 HG03486.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075a0001c0001t0001g0077a0001c0001t0001g0078others(2): Show | 5 | 182 | 0.0275 | -23 | c.421 others(40): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 2/27 | chr1 | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1633238 | GGCAAAGC others(16): Show |
G | frameshift_variant | HIGH | NA18963.hp1 | a0007 | a0007c0012 | a0007c0012t0001 | a0007c0012t0001g0109 | 1 | 223 | 0.0045 | -23 | c.737 others(30): Show |
p.Ala others(5): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 7/9 | 878/1330 | 737/1122 | 246/373 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
ASPHD2_chr22_26424260_26450015 | 26427812 | CGTTCTGG others(16): Show |
C | upstream_gene_variant | MODIFIER | HG00544.hp2 HG01496.hp2 HG01978.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0042 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0018others(9): Show | 22 | 428 | 0.0514 | -23 | c.-18 others(34): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 1447 | chr22 | TogoVar | ||||||
ASPHD2_chr22_26424260_26450015 | 26428136 | CTCTGGAA others(16): Show |
C | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG02257.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0019a0001c0001t0029 | a0001c0001t0007g0013a0001c0001t0007g0023a0001c0001t0007g0134others(8): Show | 13 | 428 | 0.0304 | -23 | c.-15 others(34): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 1123 | chr22 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61495655 | TTAACAGC others(16): Show |
T | downstream_gene_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0217 | 1 | 258 | 0.0039 | -23 | c.*76 others(34): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 4900 | chr8 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61704194 | CAAAAAAA others(16): Show |
C | intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 258 | 0.0039 | -23 | c.103 others(42): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 1/24 | chr8 | TogoVar | ||||||
ASRGL1_chr11_62332448_62398412 | 62362891 | ATTTTTTT others(16): Show |
A | intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 370 | 0.0027 | -23 | c.491 others(40): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ASRGL1_chr11_62332448_62398412 | 62398251 | CCCTGCGC others(16): Show |
C | downstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0353 | 1 | 370 | 0.0027 | -23 | c.*59 others(34): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4840 | chr11 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 176991412 | TCAAAAAA others(16): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00673.hp2 others(16): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0008a0003c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(5): Show | a0001c0001t0001g0023a0001c0001t0001g0026a0001c0001t0001g0028others(16): Show | 19 | 112 | 0.1696 | -23 | c.152 others(44): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 8/22 | chr1 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116803506 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | HG03471.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0004 | 1 | 102 | 0.0098 | -23 | c.239 others(42): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 13/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116803508 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0014 | a0001c0014t0017 | a0001c0014t0017g0050 | 1 | 102 | 0.0098 | -23 | c.239 others(42): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 13/22 | chr9 | TogoVar | ||||||
ASXL1_chr20_32353331_32444319 | 32418809 | CTTTTTTT others(16): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG02451.hp1 HG02615.hp1 others(7): Show |
a0003 | a0003c0004a0003c0024 | a0003c0004t0003a0003c0004t0011a0003c0024t0011 | a0003c0004t0003g0016a0003c0004t0003g0096a0003c0004t0003g0097others(7): Show | 10 | 282 | 0.0355 | -23 | c.253 others(40): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ASXL3_chr18_33573219_33756195 | 33713229 | GTTTTTTT others(16): Show |
G | intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0148 | 1 | 220 | 0.0046 | -23 | c.880 others(42): Show |
ASXL3 | ENSG00000141431.14 | transcript | ENST00000269197.12 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar |