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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARRDC5_chr19_4885437_4907896 | 4886696 | C | CTCTCTCT others(5): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 HG00639.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0015 |
2 | 140 | 0.0143 | 12 | c.*43 others(23): Show |
ARRDC5 | ENSG00000205784.4 | transcript | ENST00000650722.2 | protein_coding | 3740 | chr19 | TogoVar | |||||||
ARRDC5_chr19_4885437_4907896 | 4894510 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01891.hp2 HG02055.hp2 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0132 a0001c0001t0001g0328 a0001c0001t0001g0331 others(3): Show |
7 | 13 | 0.5385 | 12 | c.459 others(29): Show |
ARRDC5 | ENSG00000205784.4 | transcript | ENST00000650722.2 | protein_coding | 2/2 | chr19 | TogoVar | |||||||
ARRDC5_chr19_4885437_4907896 | 4898665 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01106.hp1 HG01891.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001a0001c0002t0002 | a0001c0001t0002g0038 a0001c0002t0001g0358 a0001c0002t0002g0348 others(1): Show |
4 | 163 | 0.0245 | 12 | c.254 others(29): Show |
ARRDC5 | ENSG00000205784.4 | transcript | ENST00000650722.2 | protein_coding | 1/2 | chr19 | TogoVar | |||||||
ARRDC5_chr19_4885437_4907896 | 4903031 | T | TTTTCACT others(5): Show |
upstream_gene_variant | MODIFIER | HG01168.hp2 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0007 | 1 | 410 | 0.0024 | 12 | c.-20 others(21): Show |
ARRDC5 | ENSG00000205784.4 | transcript | ENST00000650722.2 | protein_coding | 136 | chr19 | TogoVar | |||||||
ARSA_chr22_50617754_50633152 | 50628181 | C | CGGGGCGG others(5): Show |
upstream_gene_variant | MODIFIER | HG01167.hp2 HG02965.hp2 NA18959.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0008 | a0001c0001t0004g0004 a0001c0001t0006g0005 a0001c0001t0008g0012 |
4 | 435 | 0.0092 | 12 | c.-40 others(21): Show |
ARSA | ENSG00000100299.18 | transcript | ENST00000216124.10 | protein_coding | 30 | chr22 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78787091 | C | CATCTATC others(5): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00558.hp2 HG01978.hp1 others(19): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0019others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0030 a0001c0001t0001g0115 a0001c0001t0001g0169 others(19): Show |
22 | 94 | 0.2340 | 12 | c.121 others(31): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 6/7 | chr5 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78812592 | A | AACACACA others(5): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02258.hp2 HG03209.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0004a0001c0001t0021a0001c0003t0012others(4): Show | a0001c0001t0004g0097 a0001c0001t0021g0347 a0001c0003t0012g0088 others(4): Show |
7 | 40 | 0.1750 | 12 | c.121 others(33): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 6/7 | chr5 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78834607 | G | GTATATAT others(5): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0003 | a0003c0004 | a0003c0004t0007 | a0003c0004t0007g0243 | 1 | 82 | 0.0122 | 12 | c.121 others(31): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 6/7 | chr5 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78834607 | G | GTGTATAT others(5): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0101 | 1 | 82 | 0.0122 | 12 | c.121 others(31): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 6/7 | chr5 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78834607 | G | GTGTGTAT others(5): Show |
intron_variant | MODIFIER | HG02132.hp2 HG03453.hp2 NA19003.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0009a0002c0002t0011 | a0001c0001t0002g0273 a0002c0002t0009g0212 a0002c0002t0011g0181 |
3 | 84 | 0.0357 | 12 | c.121 others(31): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 6/7 | chr5 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78841132 | G | GTACTACT others(5): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02818.hp2 HG02895.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0021a0001c0003t0002a0001c0003t0006others(6): Show | a0001c0001t0021g0347 a0001c0003t0002g0101 a0001c0003t0006g0270 others(7): Show |
10 | 284 | 0.0352 | 12 | c.114 others(31): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 5/7 | chr5 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78841168 | C | CTAATAAT others(5): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0003 | a0001c0003t0056 | a0001c0003t0056g0021 | 1 | 114 | 0.0088 | 12 | c.114 others(31): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 5/7 | chr5 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78841168 | C | CTACTACT others(5): Show |
intron_variant | MODIFIER | NA18953.hp1 NA18969.hp2 NA18985.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0013a0001c0001t0051 | a0001c0001t0004g0175 a0001c0001t0013g0177 a0001c0001t0051g0178 |
3 | 116 | 0.0259 | 12 | c.114 others(31): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 5/7 | chr5 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78841168 | C | CTACTACT others(5): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01175.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0047a0002c0002t0003a0002c0002t0006others(1): Show | a0001c0001t0047g0042 a0002c0002t0003g0142 a0002c0002t0003g0143 others(2): Show |
5 | 118 | 0.0424 | 12 | c.114 others(31): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 5/7 | chr5 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78873498 | A | ATTTTTTT others(5): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02622.hp1 HG02647.hp2 others(3): Show |
a0001 | a0001c0003a0001c0005 | a0001c0003t0002a0001c0005t0017a0001c0005t0075 | a0001c0003t0002g0077 a0001c0003t0002g0101 a0001c0003t0002g0209 others(3): Show |
6 | 23 | 0.2609 | 12 | c.114 others(33): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 5/7 | chr5 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78972516 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01361.hp1 HG02004.hp2 others(14): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0005others(5): Show | a0001c0001t0002a0001c0001t0007a0001c0003t0002others(12): Show | a0001c0001t0002g0273 a0001c0001t0007g0197 a0001c0003t0002g0077 others(14): Show |
17 | 114 | 0.1491 | 12 | c.313 others(29): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 1/7 | chr5 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78980725 | A | AGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02723.hp1 HG02965.hp2 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0035a0001c0003t0070a0001c0005t0017 | a0001c0003t0035g0357 a0001c0003t0070g0200 a0001c0005t0017g0211 |
3 | 339 | 0.0088 | 12 | c.312 others(29): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 1/7 | chr5 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78980744 | G | GTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(78): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0289 a0001c0001t0001g0305 a0001c0001t0001g0315 others(77): Show |
81 | 329 | 0.2462 | 12 | c.312 others(29): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 1/7 | chr5 | TogoVar | |||||||
ARSD_chrX_2898972_2934339 | 2908231 | T | TTATCTAT others(5): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0003 | a0003c0017 | a0003c0017t0034 | a0003c0017t0034g0206 | 1 | 338 | 0.0030 | 12 | c.142 others(29): Show |
ARSD | ENSG00000006756.16 | transcript | ENST00000381154.6 | protein_coding | 9/9 | chrX | TogoVar | |||||||
ARSD_chrX_2898972_2934339 | 2909080 | G | GCACACAC others(5): Show |
intron_variant | MODIFIER | NA18972.hp1 NA19078.hp2 |
a0004 | a0004c0004 | a0004c0004t0015 | a0004c0004t0015g0133 a0004c0004t0015g0135 |
2 | 249 | 0.0080 | 12 | c.129 others(29): Show |
ARSD | ENSG00000006756.16 | transcript | ENST00000381154.6 | protein_coding | 8/9 | chrX | TogoVar | |||||||
ARSF_chrX_3036471_3117727 | 3036854 | T | TTTATATA others(5): Show |
upstream_gene_variant | MODIFIER | HG02451.hp1 HG02895.hp1 HG02897.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0036 a0001c0001t0001g0037 others(2): Show |
5 | 190 | 0.0263 | 12 | c.-48 others(23): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 4616 | chrX | TogoVar | |||||||
ARSF_chrX_3036471_3117727 | 3037087 | A | AATATATA others(5): Show |
upstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 188 | 0.0053 | 12 | c.-46 others(23): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 4383 | chrX | TogoVar | |||||||
ARSF_chrX_3036471_3117727 | 3055342 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 146 | 0.0068 | 12 | c.-28 others(31): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ARSF_chrX_3036471_3117727 | 3077789 | T | TTTATTAT others(5): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(38): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(3): Show | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0011 others(36): Show |
41 | 76 | 0.5395 | 12 | c.283 others(29): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ARSF_chrX_3036471_3117727 | 3077789 | T | TTTTTTAT others(5): Show |
intron_variant | MODIFIER | HG02735.hp1 NA20752.hp1 |
a0001 | a0001c0001a0001c0019 | a0001c0001t0001a0001c0019t0001 | a0001c0001t0001g0091 a0001c0019t0001g0095 |
2 | 37 | 0.0541 | 12 | c.283 others(29): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ARSF_chrX_3036471_3117727 | 3098047 | A | AACACACA others(5): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 13 | 0.0769 | 12 | c.968 others(29): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ARSG_chr17_68286495_68425814 | 68331237 | C | CTTTCTTT others(5): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00639.hp1 HG00639.hp2 others(18): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0004others(7): Show | a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0001g0031 others(18): Show |
21 | 191 | 0.1099 | 12 | c.219 others(31): Show |
ARSG | ENSG00000141337.13 | transcript | ENST00000621439.5 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ARSG_chr17_68286495_68425814 | 68366673 | A | ATGTGTGT others(5): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0005 | 1 | 272 | 0.0037 | 12 | c.705 others(29): Show |
ARSG | ENSG00000141337.13 | transcript | ENST00000621439.5 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ARSH_chrX_3001546_3039111 | 3008449 | T | TTTTCTTT others(5): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 59 | 0.0169 | 12 | c.93- others(27): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ARSH_chrX_3001546_3039111 | 3021881 | T | TTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 a0001c0001t0001g0178 |
2 | 16 | 0.1250 | 12 | c.902 others(29): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ARSH_chrX_3001546_3039111 | 3036854 | T | TTTATATA others(5): Show |
downstream_gene_variant | MODIFIER | HG02451.hp2 HG02895.hp1 HG02897.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0023 a0001c0002t0002g0200 a0001c0002t0002g0201 others(2): Show |
5 | 245 | 0.0204 | 12 | c.*34 others(23): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2744 | chrX | TogoVar | |||||||
ARSH_chrX_3001546_3039111 | 3037087 | A | AATATATA others(5): Show |
downstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 242 | 0.0041 | 12 | c.*37 others(23): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2977 | chrX | TogoVar | |||||||
ARSJ_chr4_113895284_113984647 | 113921117 | A | ACACACAC others(5): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0190 | 1 | 119 | 0.0084 | 12 | c.399 others(31): Show |
ARSJ | ENSG00000180801.14 | transcript | ENST00000315366.8 | protein_coding | 1/1 | chr4 | TogoVar | |||||||
ART1_chr11_3640128_3669416 | 3663076 | A | ATCTCATC others(5): Show |
intron_variant | MODIFIER | HG00735.hp2 HG00741.hp2 HG01106.hp2 others(2): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0003 | a0001c0001t0001g0004 a0001c0001t0001g0075 a0004c0005t0003g0062 others(2): Show |
5 | 330 | 0.0152 | 12 | c.887 others(29): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ART3_chr4_76069709_76117786 | 76089362 | T | TGTTTCTA others(5): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02280.hp1 HG03130.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0032 a0001c0001t0004g0159 a0001c0001t0004g0221 others(1): Show |
5 | 390 | 0.0128 | 12 | c.781 others(29): Show |
ART3 | ENSG00000156219.18 | transcript | ENST00000355810.9 | protein_coding | 3/11 | chr4 | TogoVar | |||||||
ART4_chr12_14820569_14848526 | 14824817 | T | TACACACA others(5): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00639.hp1 others(25): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0004a0002c0002t0015others(2): Show | a0001c0001t0004g0196 a0001c0001t0004g0209 a0001c0001t0004g0230 others(23): Show |
28 | 192 | 0.1458 | 12 | c.*45 others(23): Show |
ART4 | ENSG00000111339.12 | transcript | ENST00000228936.6 | protein_coding | 751 | chr12 | TogoVar | |||||||
ART4_chr12_14820569_14848526 | 14830119 | A | AGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00741.hp2 HG01496.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0004 | a0001c0001t0004g0256 a0002c0002t0004g0083 a0002c0002t0004g0089 others(5): Show |
8 | 168 | 0.0476 | 12 | c.854 others(27): Show |
ART4 | ENSG00000111339.12 | transcript | ENST00000228936.6 | protein_coding | 2/2 | chr12 | TogoVar | |||||||
ART4_chr12_14820569_14848526 | 14830649 | G | GTGTATAT others(5): Show |
intron_variant | MODIFIER | NA18968.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0053 | 1 | 79 | 0.0127 | 12 | c.854 others(29): Show |
ART4 | ENSG00000111339.12 | transcript | ENST00000228936.6 | protein_coding | 2/2 | chr12 | TogoVar | |||||||
ARV1_chr1_230974094_231005733 | 230984357 | T | TGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 398 | 0.0025 | 12 | c.175 others(29): Show |
ARV1 | ENSG00000173409.14 | transcript | ENST00000310256.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ARV1_chr1_230974094_231005733 | 230984359 | T | TGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00609.hp1 others(42): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0042 others(21): Show |
45 | 353 | 0.1275 | 12 | c.175 others(29): Show |
ARV1 | ENSG00000173409.14 | transcript | ENST00000310256.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ARV1_chr1_230974094_231005733 | 230984359 | T | TGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00735.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0105 |
12 | 320 | 0.0375 | 12 | c.175 others(29): Show |
ARV1 | ENSG00000173409.14 | transcript | ENST00000310256.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ARV1_chr1_230974094_231005733 | 230984361 | T | TGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 390 | 0.0026 | 12 | c.175 others(29): Show |
ARV1 | ENSG00000173409.14 | transcript | ENST00000310256.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ARV1_chr1_230974094_231005733 | 230984361 | T | TGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG02970.hp1 HG03098.hp2 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0192 |
3 | 392 | 0.0077 | 12 | c.175 others(29): Show |
ARV1 | ENSG00000173409.14 | transcript | ENST00000310256.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ARV1_chr1_230974094_231005733 | 230986668 | A | ATTTTTTT others(5): Show |
intron_variant | MODIFIER | HG01952.hp2 NA19054.hp2 NA19064.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0002g0135 |
3 | 147 | 0.0204 | 12 | c.175 others(29): Show |
ARV1 | ENSG00000173409.14 | transcript | ENST00000310256.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ARX_chrX_24998694_25020965 | 24998889 | C | CCAGAAGT others(5): Show |
downstream_gene_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0080 | 1 | 298 | 0.0034 | 12 | c.*57 others(23): Show |
ARX | ENSG00000004848.8 | transcript | ENST00000379044.5 | protein_coding | 4804 | chrX | TogoVar | |||||||
ARX_chrX_24998694_25020965 | 25018639 | T | TTATATAT others(5): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00544.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 others(4): Show |
14 | 123 | 0.1138 | 12 | c.-29 others(23): Show |
ARX | ENSG00000004848.8 | transcript | ENST00000379044.5 | protein_coding | 2675 | chrX | TogoVar | |||||||
ARX_chrX_24998694_25020965 | 25018662 | T | TATATATA others(5): Show |
upstream_gene_variant | MODIFIER | HG03098.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0031 | 2 | 291 | 0.0069 | 12 | c.-29 others(23): Show |
ARX | ENSG00000004848.8 | transcript | ENST00000379044.5 | protein_coding | 2698 | chrX | TogoVar | |||||||
AR_chrX_67539021_67735619 | 67545316 | T | TGCAGCAG others(5): Show |
disruptive_inframe_insertion | MODERATE | HG01261.hp1 HG02027.hp1 NA18974.hp1 others(2): Show |
a0011 | a0011c0013 | a0011c0013t0001a0011c0013t0003a0011c0013t0009others(1): Show | a0011c0013t0001g0015 a0011c0013t0001g0052 a0011c0013t0003g0107 others(2): Show |
5 | 29 | 0.1724 | 12 | c.228 others(19): Show |
p.Gln others(11): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/8 | 1366/10667 | 240/2763 | 80/920 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
AR_chrX_67539021_67735619 | 67546514 | T | TGGCGGCG others(5): Show |
disruptive_inframe_insertion | MODERATE | HG01081.hp2 HG02055.hp1 HG02257.hp1 |
a0001a0007a0008 | a0001c0009a0007c0016a0008c0017 | a0001c0009t0010a0007c0016t0005a0008c0017t0005 | a0001c0009t0010g0113 a0007c0016t0005g0173 a0008c0017t0005g0174 |
3 | 83 | 0.0361 | 12 | c.140 others(21): Show |
p.Gly others(13): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/8 | 2547/10667 | 1421/2763 | 474/920 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
AR_chrX_67539021_67735619 | 67604198 | A | ATGTGTGT others(5): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0008 | a0008c0017 | a0008c0017t0005 | a0008c0017t0005g0174 | 1 | 21 | 0.0476 | 12 | c.161 others(33): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar |