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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARPC3_chr12_110429823_110455337 | 110436200 | CACTTCTA others(6): Show |
C | frameshift_variant others(3): Show |
HIGH | HG00099.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0141 | 1 | 332 | 0.0030 | -13 | c.380 others(22): Show |
p.Glu others(5): Show |
ARPC3 | ENSG00000111229.16 | transcript | ENST00000228825.12 | protein_coding | 6/7 | 460/946 | 380/537 | 127/178 | chr12 | TogoVar | |||
ARPC5_chr1_183615846_183640783 | 183628172 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG01123.hp1 HG02055.hp2 others(28): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0004a0001c0002t0012a0001c0002t0016others(6): Show | a0001c0002t0004g0006 a0001c0002t0004g0013 a0001c0002t0004g0014 others(10): Show |
31 | 181 | 0.1713 | -13 | c.394 others(28): Show |
ARPC5 | ENSG00000162704.16 | transcript | ENST00000359856.11 | protein_coding | 3/3 | chr1 | TogoVar | |||||||
ARPP21_chr3_35634525_35799486 | 35667947 | AAAAGAAG others(6): Show |
A | intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 263 | 0.0038 | -13 | c.-21 others(34): Show |
ARPP21 | ENSG00000172995.17 | transcript | ENST00000684406.1 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ARRB1_chr11_75255122_75356661 | 75291952 | AGAGAAGG others(6): Show |
A | intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0107 | 1 | 318 | 0.0031 | -13 | c.21- others(28): Show |
ARRB1 | ENSG00000137486.17 | transcript | ENST00000420843.7 | protein_coding | 1/15 | chr11 | TogoVar | |||||||
ARRB1_chr11_75255122_75356661 | 75300210 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG03130.hp2 HG03471.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 a0001c0001t0001g0197 a0001c0001t0001g0198 others(1): Show |
4 | 318 | 0.0126 | -13 | c.21- others(30): Show |
ARRB1 | ENSG00000137486.17 | transcript | ENST00000420843.7 | protein_coding | 1/15 | chr11 | TogoVar | |||||||
ARRDC1_chr9_137600686_137620360 | 137601240 | TATATATA others(6): Show |
T | upstream_gene_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 324 | 0.0031 | -13 | c.-44 others(24): Show |
ARRDC1 | ENSG00000197070.14 | transcript | ENST00000371421.9 | protein_coding | 4445 | chr9 | TogoVar | |||||||
ARRDC1_chr9_137600686_137620360 | 137601242 | TATATATA others(6): Show |
T | upstream_gene_variant | MODIFIER | HG01361.hp1 HG02615.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 335 | 0.0060 | -13 | c.-44 others(24): Show |
ARRDC1 | ENSG00000197070.14 | transcript | ENST00000371421.9 | protein_coding | 4443 | chr9 | TogoVar | |||||||
ARRDC1_chr9_137600686_137620360 | 137601244 | TATATATA others(6): Show |
T | upstream_gene_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 335 | 0.0030 | -13 | c.-44 others(24): Show |
ARRDC1 | ENSG00000197070.14 | transcript | ENST00000371421.9 | protein_coding | 4441 | chr9 | TogoVar | |||||||
ARRDC1_chr9_137600686_137620360 | 137601246 | TATATATA others(6): Show |
T | upstream_gene_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 334 | 0.0030 | -13 | c.-44 others(24): Show |
ARRDC1 | ENSG00000197070.14 | transcript | ENST00000371421.9 | protein_coding | 4439 | chr9 | TogoVar | |||||||
ARRDC1_chr9_137600686_137620360 | 137601251 | ATATATAT others(6): Show |
A | upstream_gene_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 323 | 0.0031 | -13 | c.-44 others(24): Show |
ARRDC1 | ENSG00000197070.14 | transcript | ENST00000371421.9 | protein_coding | 4434 | chr9 | TogoVar | |||||||
ARRDC2_chr19_18003170_18019102 | 18005518 | ACGGGGTG others(6): Show |
A | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00423.hp2 others(27): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002a0002c0002t0003 | a0001c0001t0001g0001 a0002c0002t0002g0004 a0002c0002t0003g0003 others(4): Show |
30 | 412 | 0.0728 | -13 | c.-27 others(24): Show |
ARRDC2 | ENSG00000105643.11 | transcript | ENST00000222250.5 | protein_coding | 2651 | chr19 | TogoVar | |||||||
ARSA_chr22_50617754_50633152 | 50628181 | CGGGGCGG others(6): Show |
C | upstream_gene_variant | MODIFIER | NA20905.hp2 | a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0093 | 1 | 432 | 0.0023 | -13 | c.-41 others(22): Show |
ARSA | ENSG00000100299.18 | transcript | ENST00000216124.10 | protein_coding | 30 | chr22 | TogoVar | |||||||
ARSA_chr22_50617754_50633152 | 50628192 | CGGGGGCG others(6): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00438.hp1 others(138): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(24): Show | a0001c0001t0003g0003 a0001c0001t0004g0048 a0001c0001t0006g0005 others(35): Show |
141 | 359 | 0.3928 | -13 | c.-42 others(22): Show |
ARSA | ENSG00000100299.18 | transcript | ENST00000216124.10 | protein_coding | 41 | chr22 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78818598 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00733.hp1 HG01168.hp2 HG02055.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0015 | a0001c0001t0002a0001c0003t0002a0001c0003t0027others(1): Show | a0001c0001t0002g0261 a0001c0003t0002g0010 a0001c0003t0002g0349 others(3): Show |
6 | 20 | 0.3000 | -13 | c.121 others(34): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 6/7 | chr5 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78843585 | TTTAAACT others(6): Show |
T | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0164 | 1 | 358 | 0.0028 | -13 | c.114 others(32): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 5/7 | chr5 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78892248 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02129.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0024 | 1 | 207 | 0.0048 | -13 | c.899 others(30): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 4/7 | chr5 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78911572 | TAAAAAAA others(6): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG01243.hp1 HG02809.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0031a0001c0001t0043others(1): Show | a0001c0001t0007g0197 a0001c0001t0007g0202 a0001c0001t0031g0324 others(2): Show |
5 | 42 | 0.1190 | -13 | c.899 others(32): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 4/7 | chr5 | TogoVar | |||||||
ARSG_chr17_68286495_68425814 | 68331249 | CTTTCTTT others(6): Show |
C | intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0077 | 1 | 302 | 0.0033 | -13 | c.219 others(32): Show |
ARSG | ENSG00000141337.13 | transcript | ENST00000621439.5 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ARSG_chr17_68286495_68425814 | 68372877 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG02071.hp2 HG02145.hp1 |
a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0134 a0004c0006t0001g0260 |
2 | 61 | 0.0328 | -13 | c.982 others(30): Show |
ARSG | ENSG00000141337.13 | transcript | ENST00000621439.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ARSG_chr17_68286495_68425814 | 68412576 | GGTGAATC others(6): Show |
G | intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0043 | 1 | 302 | 0.0033 | -13 | c.130 others(32): Show |
ARSG | ENSG00000141337.13 | transcript | ENST00000621439.5 | protein_coding | 11/11 | chr17 | TogoVar | |||||||
ARSH_chrX_3001546_3039111 | 3008448 | ATTTTCTT others(6): Show |
A | intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 246 | 0.0041 | -13 | c.93- others(28): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ARSH_chrX_3001546_3039111 | 3008503 | TTCTTTCT others(6): Show |
T | intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 246 | 0.0041 | -13 | c.93- others(28): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 1/8 | chrX | TogoVar | |||||||
ARSH_chrX_3001546_3039111 | 3032393 | GAGGAAGG others(6): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00741.hp1 HG01167.hp1 others(19): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0002c0004others(3): Show | a0001c0001t0002a0001c0002t0002a0002c0004t0002others(3): Show | a0001c0001t0002g0089 a0001c0002t0002g0023 a0001c0002t0002g0200 others(16): Show |
22 | 246 | 0.0894 | -13 | c.132 others(30): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ARSH_chrX_3001546_3039111 | 3035149 | GGGATTAT others(6): Show |
G | downstream_gene_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0157 | 1 | 246 | 0.0041 | -13 | c.*17 others(24): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 1039 | chrX | TogoVar | |||||||
ARSI_chr5_150291343_150307905 | 150307339 | GGGTCCAC others(6): Show |
G | upstream_gene_variant | MODIFIER | HG02451.hp1 HG03041.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0012 |
3 | 454 | 0.0066 | -13 | c.-49 others(24): Show |
ARSI | ENSG00000183876.9 | transcript | ENST00000328668.8 | protein_coding | 4435 | chr5 | TogoVar | |||||||
ARSI_chr5_150291343_150307905 | 150307353 | GGTCCACG others(6): Show |
G | upstream_gene_variant | MODIFIER | HG02109.hp1 HG02145.hp2 HG02486.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0009a0001c0002t0011 | a0001c0001t0001g0001 a0001c0001t0009g0017 a0001c0002t0011g0020 |
13 | 454 | 0.0286 | -13 | c.-49 others(24): Show |
ARSI | ENSG00000183876.9 | transcript | ENST00000328668.8 | protein_coding | 4449 | chr5 | TogoVar | |||||||
ARSJ_chr4_113895284_113984647 | 113984139 | GAGATATA others(6): Show |
G | upstream_gene_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG01346.hp1 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0084 a0001c0001t0001g0089 others(28): Show |
31 | 348 | 0.0891 | -13 | c.-53 others(24): Show |
ARSJ | ENSG00000180801.14 | transcript | ENST00000315366.8 | protein_coding | 4493 | chr4 | TogoVar | |||||||
ARSL_chrX_2929521_2969341 | 2950832 | GACACAGA others(6): Show |
G | intron_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0264 | 1 | 326 | 0.0031 | -13 | c.431 others(30): Show |
ARSL | ENSG00000157399.17 | transcript | ENST00000381134.9 | protein_coding | 5/10 | chrX | TogoVar | |||||||
ART1_chr11_3640128_3669416 | 3663020 | CTCATCTC others(6): Show |
C | intron_variant | MODIFIER | HG02109.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0306 | 1 | 392 | 0.0026 | -13 | c.887 others(30): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ARV1_chr1_230974094_231005733 | 230986666 | CTATTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02257.hp1 HG02451.hp2 HG02698.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0058 a0001c0001t0001g0070 a0001c0001t0001g0157 others(2): Show |
5 | 266 | 0.0188 | -13 | c.175 others(30): Show |
ARV1 | ENSG00000173409.14 | transcript | ENST00000310256.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ARV1_chr1_230974094_231005733 | 230986668 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00733.hp1 HG00735.hp1 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0012 others(17): Show |
43 | 187 | 0.2299 | -13 | c.175 others(30): Show |
ARV1 | ENSG00000173409.14 | transcript | ENST00000310256.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ARVCF_chr22_19964896_20021823 | 20006115 | AGTTTTCT others(6): Show |
A | intron_variant | MODIFIER | HG02895.hp1 | a0005 | a0005c0005 | a0005c0005t0004 | a0005c0005t0004g0133 | 1 | 372 | 0.0027 | -13 | c.-19 others(30): Show |
ARVCF | ENSG00000099889.14 | transcript | ENST00000263207.8 | protein_coding | 2/19 | chr22 | TogoVar | |||||||
ARX_chrX_24998694_25020965 | 25000060 | CTTCTTTT others(6): Show |
C | downstream_gene_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0080 | 1 | 298 | 0.0034 | -13 | c.*45 others(24): Show |
ARX | ENSG00000004848.8 | transcript | ENST00000379044.5 | protein_coding | 3633 | chrX | TogoVar | |||||||
AR_chrX_67539021_67735619 | 67732295 | GAACTTCA others(6): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(152): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0009a0001c0026others(27): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(99): Show | a0001c0001t0001g0062 a0001c0001t0001g0070 a0001c0001t0001g0079 others(151): Show |
155 | 191 | 0.8115 | -13 | c.*84 others(24): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1677 | chrX | TogoVar | |||||||
AS3MT_chr10_102864470_102906899 | 102885495 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG01099.hp1 HG01358.hp1 HG02602.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0008 a0001c0001t0001g0018 a0001c0001t0001g0203 others(8): Show |
11 | 200 | 0.0550 | -13 | c.886 others(30): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
AS3MT_chr10_102864470_102906899 | 102906265 | AAAAAAAA others(6): Show |
A | downstream_gene_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 360 | 0.0028 | -13 | c.*55 others(24): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 4367 | chr10 | TogoVar | |||||||
AS3MT_chr10_102864470_102906899 | 102906271 | AAAAAAAT others(6): Show |
A | downstream_gene_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0183 | 1 | 360 | 0.0028 | -13 | c.*55 others(24): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 4373 | chr10 | TogoVar | |||||||
ASAH2_chr10_50179861_50256516 | 50244348 | TCATAAAA others(6): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG02055.hp2 others(7): Show |
a0001 | a0001c0002a0001c0004a0001c0018 | a0001c0002t0005a0001c0002t0006a0001c0004t0006others(1): Show | a0001c0002t0005g0044 a0001c0002t0005g0262 a0001c0002t0005g0330 others(6): Show |
10 | 406 | 0.0246 | -13 | c.360 others(28): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 3/20 | chr10 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130060075 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00673.hp1 HG01074.hp2 HG01167.hp2 others(18): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(7): Show | a0001c0001t0001g0014 a0001c0001t0001g0222 a0001c0001t0001g0245 others(18): Show |
21 | 106 | 0.1981 | -13 | c.319 others(30): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 28/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130070998 | AGAGGGGA others(6): Show |
A | intron_variant | MODIFIER | HG01168.hp1 HG01496.hp2 HG02145.hp1 others(1): Show |
a0001a0004 | a0001c0001a0001c0004a0004c0012 | a0001c0001t0008a0001c0004t0002a0004c0012t0027 | a0001c0001t0008g0015 a0001c0004t0002g0151 a0001c0004t0002g0181 others(1): Show |
4 | 282 | 0.0142 | -13 | c.270 others(32): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130097126 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | NA18998.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0161 | 1 | 31 | 0.0323 | -13 | c.240 others(32): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 24/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130107514 | AAATGTAT others(6): Show |
A | intron_variant | MODIFIER | HG01256.hp1 | a0002 | a0002c0003 | a0002c0003t0010 | a0002c0003t0010g0016 | 1 | 301 | 0.0033 | -13 | c.240 others(32): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 24/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130108757 | GTTTTTTT others(6): Show |
G | intron_variant | MODIFIER | HG01891.hp2 HG02145.hp1 HG02615.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0018a0001c0001t0019 | a0001c0001t0008g0009 a0001c0001t0008g0015 a0001c0001t0008g0021 others(3): Show |
6 | 47 | 0.1277 | -13 | c.240 others(32): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 24/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130151370 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02300.hp1 HG03704.hp2 HG04184.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0011 | a0002c0002t0003g0065 a0002c0002t0003g0113 a0002c0002t0003g0114 others(5): Show |
8 | 30 | 0.2667 | -13 | c.108 others(32): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 13/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130262415 | AAAGAGAG others(6): Show |
A | intron_variant | MODIFIER | HG02970.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0243 |
2 | 261 | 0.0077 | -13 | c.187 others(32): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130283583 | GAAAGAAA others(6): Show |
G | intron_variant | MODIFIER | NA19091.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0075 | 1 | 47 | 0.0213 | -13 | c.187 others(32): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130445972 | CAAAAAAA others(6): Show |
C | upstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0007 | a0001c0007t0007 | a0001c0007t0007g0001 | 1 | 45 | 0.0222 | -13 | c.-25 others(24): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2299 | chr8 | TogoVar | |||||||
ASAP2_chr2_9201812_9410678 | 9246422 | AGCTACAG others(6): Show |
A | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0185 | 1 | 210 | 0.0048 | -13 | c.127 others(32): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9259553 | CAGCCCAA others(6): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(68): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004others(6): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(20): Show | a0001c0002t0001g0097 a0001c0002t0002g0007 a0001c0002t0002g0016 others(68): Show |
71 | 210 | 0.3381 | -13 | c.127 others(32): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9267897 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01168.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0112 | 1 | 69 | 0.0145 | -13 | c.127 others(32): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |