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 | 4886710 | A | ATATATAT others(11): Show |
downstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 221 | 0.0045 | 18 | c.*43 others(29): Show |
ARRDC5 | ENSG00000205784.4 | transcript | ENST00000650722.2 | protein_coding | 3726 | chr19 | TogoVar | |||||||
ARRDC5_chr19_4885437_4907896 | 4894510 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01928.hp1 HG02129.hp2 NA19084.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040 a0001c0001t0002g0056 a0001c0001t0002g0067 |
3 | 9 | 0.3333 | 18 | c.459 others(35): Show |
ARRDC5 | ENSG00000205784.4 | transcript | ENST00000650722.2 | protein_coding | 2/2 | chr19 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78834607 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0288 | 1 | 82 | 0.0122 | 18 | c.121 others(37): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 6/7 | chr5 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78841132 | G | GTACTACT others(11): Show |
intron_variant | MODIFIER | NA19057.hp2 NA20805.hp2 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0056a0002c0002t0003 | a0001c0003t0056g0021 a0002c0002t0003g0190 |
2 | 276 | 0.0072 | 18 | c.114 others(37): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 5/7 | chr5 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78841156 | C | CTAATAAT others(11): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0292 | 1 | 356 | 0.0028 | 18 | c.114 others(37): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 5/7 | chr5 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78841162 | C | CTAATAAT others(11): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0160 | 1 | 327 | 0.0031 | 18 | c.114 others(37): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 5/7 | chr5 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78841165 | C | CTAATAAT others(11): Show |
intron_variant | MODIFIER | HG03017.hp1 NA19043.hp1 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0004a0003c0004t0049 | a0001c0001t0004g0327 a0003c0004t0049g0230 |
2 | 305 | 0.0066 | 18 | c.114 others(37): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 5/7 | chr5 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78841168 | C | CTACTACT others(11): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00621.hp1 others(6): Show |
a0001a0002 | a0001c0003a0001c0005a0002c0002 | a0001c0003t0006a0001c0003t0012a0001c0003t0061others(4): Show | a0001c0003t0006g0210 a0001c0003t0012g0193 a0001c0003t0061g0208 others(6): Show |
9 | 122 | 0.0738 | 18 | c.114 others(37): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 5/7 | chr5 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78841168 | C | CTACTACT others(11): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00673.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0002a0001c0001t0005a0001c0003t0002others(5): Show | a0001c0001t0002g0038 a0001c0001t0005g0037 a0001c0003t0002g0339 others(5): Show |
8 | 121 | 0.0661 | 18 | c.114 others(37): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 5/7 | chr5 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78873498 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02145.hp2 HG02602.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0004a0003c0004t0001a0003c0004t0003others(4): Show | a0001c0001t0004g0327 a0003c0004t0001g0245 a0003c0004t0003g0094 others(4): Show |
7 | 24 | 0.2917 | 18 | c.114 others(39): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 5/7 | chr5 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78972516 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG02809.hp2 HG02965.hp1 HG03516.hp2 others(1): Show |
a0001a0006 | a0001c0001a0001c0005a0006c0016 | a0001c0001t0002a0001c0001t0006a0001c0005t0032others(1): Show | a0001c0001t0002g0005 a0001c0001t0006g0356 a0001c0005t0032g0204 others(1): Show |
4 | 101 | 0.0396 | 18 | c.313 others(35): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 1/7 | chr5 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78980725 | A | AGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG02976.hp2 HG03540.hp2 |
a0001 | a0001c0007 | a0001c0007t0004a0001c0007t0068 | a0001c0007t0004g0100 a0001c0007t0068g0196 |
2 | 338 | 0.0059 | 18 | c.312 others(35): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 1/7 | chr5 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78980744 | G | GTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0164 a0001c0001t0006g0165 |
2 | 250 | 0.0080 | 18 | c.312 others(35): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 1/7 | chr5 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78984900 | G | GGGCGGGG others(11): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0002 | a0002c0002 | a0002c0002t0066 | a0002c0002t0066g0355 | 1 | 358 | 0.0028 | 18 | c.312 others(31): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 1/7 | chr5 | TogoVar | |||||||
ARSD_chrX_2898972_2934339 | 2932391 | C | CTTTGCTT others(11): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(260): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0006a0001c0009others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(56): Show | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0012 others(233): Show |
263 | 342 | 0.7690 | 18 | c.-31 others(29): Show |
ARSD | ENSG00000006756.16 | transcript | ENST00000381154.6 | protein_coding | 3053 | chrX | TogoVar | |||||||
ARSF_chrX_3036471_3117727 | 3036752 | A | ATTTTATA others(11): Show |
upstream_gene_variant | MODIFIER | HG02451.hp1 HG02895.hp1 HG02897.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0036 a0001c0001t0001g0037 others(2): Show |
5 | 156 | 0.0321 | 18 | c.-49 others(29): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 4718 | chrX | TogoVar | |||||||
ARSF_chrX_3036471_3117727 | 3077789 | T | TTTATTAT others(11): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00735.hp2 HG01070.hp2 others(29): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0049 others(27): Show |
32 | 67 | 0.4776 | 18 | c.283 others(35): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ARSG_chr17_68286495_68425814 | 68366673 | A | ATGTGTGT others(11): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02451.hp1 HG02965.hp2 others(1): Show |
a0001 | a0001c0003a0001c0009a0001c0013 | a0001c0003t0004a0001c0009t0001a0001c0013t0001 | a0001c0003t0004g0206 a0001c0009t0001g0036 a0001c0013t0001g0045 others(1): Show |
4 | 275 | 0.0145 | 18 | c.705 others(35): Show |
ARSG | ENSG00000141337.13 | transcript | ENST00000621439.5 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ARSH_chrX_3001546_3039111 | 3036752 | A | ATTTTATA others(11): Show |
downstream_gene_variant | MODIFIER | HG02895.hp1 HG02897.hp1 HG03130.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0023 a0001c0002t0002g0200 a0001c0002t0002g0201 others(1): Show |
4 | 202 | 0.0198 | 18 | c.*33 others(29): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2642 | chrX | TogoVar | |||||||
ARSL_chrX_2929521_2969341 | 2932391 | C | CTTTGCTT others(11): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(243): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0007a0001c0009others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(26): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(232): Show |
246 | 326 | 0.7546 | 18 | c.*24 others(29): Show |
ARSL | ENSG00000157399.17 | transcript | ENST00000381134.9 | protein_coding | 2129 | chrX | TogoVar | |||||||
ART1_chr11_3640128_3669416 | 3663063 | C | CTCATCTC others(11): Show |
intron_variant | MODIFIER | HG01358.hp1 HG01978.hp2 HG02132.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0173 a0002c0002t0001g0227 a0002c0002t0001g0237 others(1): Show |
4 | 384 | 0.0104 | 18 | c.887 others(35): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ARX_chrX_24998694_25020965 | 25018639 | T | TTATATAT others(11): Show |
upstream_gene_variant | MODIFIER | NA18953.hp1 NA18955.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003 a0001c0001t0002g0007 |
2 | 111 | 0.0180 | 18 | c.-29 others(29): Show |
ARX | ENSG00000004848.8 | transcript | ENST00000379044.5 | protein_coding | 2675 | chrX | TogoVar | |||||||
AR_chrX_67539021_67735619 | 67545316 | T | TGCAGCAG others(11): Show |
disruptive_inframe_insertion | MODERATE | NA18995.hp1 | a0018 | a0018c0036 | a0018c0036t0021 | a0018c0036t0021g0063 | 1 | 25 | 0.0400 | 18 | c.222 others(25): 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(11): Show |
disruptive_inframe_insertion | MODERATE | HG01167.hp1 HG01169.hp2 |
a0012 | a0012c0018 | a0012c0018t0011 | a0012c0018t0011g0019 a0012c0018t0011g0134 |
2 | 82 | 0.0244 | 18 | c.140 others(27): 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(11): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0179 | 1 | 21 | 0.0476 | 18 | c.161 others(39): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AR_chrX_67539021_67735619 | 67723312 | C | CTCTGTGT others(11): Show |
intron_variant | MODIFIER | HG03491.hp1 HG03492.hp1 |
a0005 | a0005c0006 | a0005c0006t0003a0005c0006t0010 | a0005c0006t0003g0003 a0005c0006t0010g0003 |
2 | 95 | 0.0211 | 18 | c.260 others(35): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AR_chrX_67539021_67735619 | 67728574 | A | AATATATA others(11): Show |
3_prime_UTR_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0009 | a0001c0009t0033 | a0001c0009t0033g0138 | 1 | 26 | 0.0385 | 18 | c.*47 others(29): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 8/8 | 4775 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
AS3MT_chr10_102864470_102906899 | 102906274 | A | AATATATA others(11): Show |
downstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 | 1 | 335 | 0.0030 | 18 | c.*55 others(29): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 4376 | chr10 | TogoVar | |||||||
AS3MT_chr10_102864470_102906899 | 102906276 | A | AAAAAAAA others(11): Show |
downstream_gene_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0071 | 1 | 112 | 0.0089 | 18 | c.*55 others(29): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 4378 | chr10 | TogoVar | |||||||
AS3MT_chr10_102864470_102906899 | 102906276 | A | AAAAAATA others(11): Show |
downstream_gene_variant | MODIFIER | HG02165.hp2 HG03516.hp1 NA18962.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0007a0001c0001t0028others(1): Show | a0001c0001t0002g0002 a0001c0001t0002g0149 a0001c0001t0002g0156 others(5): Show |
8 | 119 | 0.0672 | 18 | c.*55 others(29): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 4378 | chr10 | TogoVar | |||||||
AS3MT_chr10_102864470_102906899 | 102906276 | A | AAAATATA others(11): Show |
downstream_gene_variant | MODIFIER | HG01358.hp2 HG01981.hp1 HG02083.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0013 a0001c0001t0002g0124 a0001c0001t0002g0126 others(2): Show |
5 | 116 | 0.0431 | 18 | c.*55 others(29): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 4378 | chr10 | TogoVar | |||||||
AS3MT_chr10_102864470_102906899 | 102906276 | A | AATATATA others(11): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 HG03225.hp2 NA18939.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(1): Show | a0001c0001t0002g0147 a0001c0001t0002g0162 a0001c0001t0003g0087 others(2): Show |
5 | 116 | 0.0431 | 18 | c.*55 others(29): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 4378 | chr10 | TogoVar | |||||||
ASAH1_chr8_18050992_18089107 | 18075001 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02698.hp1 HG02698.hp2 HG03834.hp1 others(1): Show |
a0006 | a0006c0005 | a0006c0005t0001a0006c0005t0011 | a0006c0005t0001g0210 a0006c0005t0011g0046 a0006c0005t0011g0209 |
4 | 379 | 0.0106 | 18 | c.125 others(33): Show |
ASAH1 | ENSG00000104763.20 | transcript | ENST00000637790.2 | protein_coding | 2/13 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130050230 | G | GGGGAACA others(11): Show |
downstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0302 | 1 | 306 | 0.0033 | 18 | c.*45 others(29): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 1873 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130072824 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02257.hp1 HG02559.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0219 others(1): Show |
4 | 155 | 0.0258 | 18 | c.270 others(37): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130072824 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02257.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0227 |
2 | 153 | 0.0131 | 18 | c.270 others(37): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130072825 | G | GTGTGCGC others(11): Show |
intron_variant | MODIFIER | NA18955.hp2 NA18984.hp1 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0129 a0002c0002t0003g0259 |
2 | 210 | 0.0095 | 18 | c.270 others(37): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130217537 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00544.hp2 others(47): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0004a0002c0002t0015others(2): Show | a0002c0002t0003g0055 a0002c0002t0003g0059 a0002c0002t0003g0082 others(47): Show |
50 | 202 | 0.2475 | 18 | c.260 others(35): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 4/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130256757 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0002 | a0002c0002 | a0002c0002t0016 | a0002c0002t0016g0132 | 1 | 303 | 0.0033 | 18 | c.187 others(37): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130276728 | A | ACACACAC others(11): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00558.hp1 HG02080.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0115 a0002c0002t0003g0120 a0002c0002t0003g0127 others(3): Show |
6 | 117 | 0.0513 | 18 | c.187 others(37): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130276728 | A | ACACACAC others(11): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00621.hp1 HG01934.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0004a0002c0002t0023 | a0002c0002t0003g0119 a0002c0002t0003g0136 a0002c0002t0003g0197 others(4): Show |
7 | 118 | 0.0593 | 18 | c.187 others(37): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130276728 | A | ACACACTC others(11): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01361.hp1 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0055 a0002c0002t0003g0250 |
2 | 113 | 0.0177 | 18 | c.187 others(37): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130276728 | A | ACACTCTC others(11): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0246 | 1 | 112 | 0.0089 | 18 | c.187 others(37): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130276760 | T | TCTCTCTC others(11): Show |
intron_variant | MODIFIER | HG00423.hp2 HG02040.hp1 NA19074.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0023 a0002c0003t0001g0030 a0002c0003t0001g0032 |
3 | 264 | 0.0114 | 18 | c.187 others(37): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130300151 | C | CAGAGAGA others(11): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0112 | 1 | 260 | 0.0038 | 18 | c.186 others(37): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130300153 | C | CACACACA others(11): Show |
intron_variant | MODIFIER | NA18957.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0264 | 1 | 125 | 0.0080 | 18 | c.186 others(37): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130300153 | C | CACACAGA others(11): Show |
intron_variant | MODIFIER | HG02970.hp1 HG04204.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003 | a0001c0001t0001g0014 a0002c0002t0003g0131 |
2 | 126 | 0.0159 | 18 | c.186 others(37): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130300153 | C | CAGAGAGA others(11): Show |
intron_variant | MODIFIER | HG01993.hp1 HG03831.hp2 NA19065.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003a0002c0002t0004 | a0001c0001t0001g0048 a0002c0002t0003g0126 a0002c0002t0004g0107 |
3 | 127 | 0.0236 | 18 | c.186 others(37): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130300184 | A | AGAGAGAG others(11): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0088 | 1 | 250 | 0.0040 | 18 | c.186 others(37): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130366886 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00323.hp1 HG02965.hp2 HG03669.hp1 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0012 a0002c0002t0001g0068 a0002c0002t0001g0071 others(6): Show |
9 | 190 | 0.0474 | 18 | c.60- others(33): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2/29 | chr8 | TogoVar |