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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SCAMP2_chr15_74838730_74878365 | 74874661 | A | AAAAAAAA others(8): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG01261.hp1 HG01928.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0001g0294 a0001c0001t0003g0291 a0001c0001t0003g0327 others(3): Show |
6 | 139 | 0.0432 | 15 | c.-14 others(26): Show |
SCAMP2 | ENSG00000140497.16 | transcript | ENST00000268099.13 | protein_coding | 1297 | chr15 | TogoVar | |||||||
SCAMP2_chr15_74838730_74878365 | 74874661 | A | AAAAAAAA others(8): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0053 | 1 | 134 | 0.0075 | 15 | c.-14 others(26): Show |
SCAMP2 | ENSG00000140497.16 | transcript | ENST00000268099.13 | protein_coding | 1297 | chr15 | TogoVar | |||||||
SCAMP2_chr15_74838730_74878365 | 74874661 | A | AAAAATAT others(8): Show |
upstream_gene_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0285 | 1 | 134 | 0.0075 | 15 | c.-14 others(26): Show |
SCAMP2 | ENSG00000140497.16 | transcript | ENST00000268099.13 | protein_coding | 1297 | chr15 | TogoVar | |||||||
SCAMP3_chr1_155250981_155267360 | 155252722 | A | ATATATAT others(8): Show |
downstream_gene_variant | MODIFIER | HG02523.hp2 NA18955.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0012 |
2 | 162 | 0.0123 | 15 | c.*35 others(26): Show |
SCAMP3 | ENSG00000116521.11 | transcript | ENST00000302631.8 | protein_coding | 3258 | chr1 | TogoVar | |||||||
SCAMP3_chr1_155250981_155267360 | 155252722 | A | ATATATAT others(8): Show |
downstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0011 | 1 | 161 | 0.0062 | 15 | c.*35 others(26): Show |
SCAMP3 | ENSG00000116521.11 | transcript | ENST00000302631.8 | protein_coding | 3258 | chr1 | TogoVar | |||||||
SCAMP3_chr1_155250981_155267360 | 155252723 | T | TATATATA others(8): Show |
downstream_gene_variant | MODIFIER | HG01069.hp2 HG01099.hp1 HG01167.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0046 |
3 | 346 | 0.0087 | 15 | c.*35 others(26): Show |
SCAMP3 | ENSG00000116521.11 | transcript | ENST00000302631.8 | protein_coding | 3257 | chr1 | TogoVar | |||||||
SCAMP4_chr19_1900399_1931013 | 1928753 | C | CAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG03139.hp1 HG03669.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0313 a0001c0003t0001g0179 |
2 | 46 | 0.0435 | 15 | c.*44 others(26): Show |
SCAMP4 | ENSG00000227500.11 | transcript | ENST00000316097.13 | protein_coding | 2741 | chr19 | TogoVar | |||||||
SCAMP5_chr15_74990563_75026495 | 74991129 | T | TTCTTTCT others(8): Show |
upstream_gene_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 368 | 0.0027 | 15 | c.-45 others(26): Show |
SCAMP5 | ENSG00000198794.12 | transcript | ENST00000425597.8 | protein_coding | 4433 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76357189 | C | CACACACA others(8): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 304 | 0.0033 | 15 | c.385 others(34): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 29/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76431676 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02083.hp2 HG02897.hp1 others(7): Show |
a0001a0002a0006 | a0001c0001a0002c0003a0006c0013 | a0001c0001t0003a0001c0001t0004a0002c0003t0002others(1): Show | a0001c0001t0003g0114 a0001c0001t0003g0118 a0001c0001t0003g0120 others(7): Show |
10 | 24 | 0.4167 | 15 | c.331 others(34): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 26/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76488714 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01074.hp2 NA18945.hp2 NA18950.hp2 others(4): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0002a0002c0003t0002 | a0002c0002t0002g0237 a0002c0002t0002g0240 a0002c0002t0002g0252 others(4): Show |
7 | 14 | 0.5000 | 15 | c.295 others(36): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 24/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76667625 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02559.hp2 NA20752.hp2 NA21309.hp2 |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0001a0004c0008t0001 | a0001c0001t0001g0008 a0001c0001t0001g0165 a0004c0008t0001g0176 |
3 | 40 | 0.0750 | 15 | c.250 others(34): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 20/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76680411 | G | GATAATAA others(8): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0007 | a0007c0020 | a0007c0020t0003 | a0007c0020t0003g0162 | 1 | 47 | 0.0213 | 15 | c.250 others(36): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 20/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76714534 | G | GGTGGTAG others(8): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01255.hp2 HG02109.hp1 |
a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0167 a0001c0010t0001g0168 a0001c0010t0001g0169 |
3 | 172 | 0.0174 | 15 | c.216 others(34): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 17/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76813227 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0154 | 1 | 227 | 0.0044 | 15 | c.394 others(32): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 5/31 | chr15 | TogoVar | |||||||
SCARA3_chr8_27628902_27678018 | 27668546 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0090 | 1 | 240 | 0.0042 | 15 | c.137 others(34): Show |
SCARA3 | ENSG00000168077.14 | transcript | ENST00000301904.4 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SCARA5_chr8_27864883_27997673 | 27918896 | A | AAAGAGGA others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(302): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0003others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(134): Show | a0001c0001t0001g0001 a0001c0001t0001g0146 a0001c0001t0001g0148 others(301): Show |
305 | 312 | 0.9776 | 15 | c.916 others(32): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | |||||||
SCARA5_chr8_27864883_27997673 | 27936592 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01167.hp2 |
a0001a0002 | a0001c0002a0002c0010 | a0001c0002t0001a0002c0010t0003 | a0001c0002t0001g0237 a0002c0010t0003g0166 |
2 | 28 | 0.0714 | 15 | c.242 others(34): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
SCARB2_chr4_76153737_76218824 | 76189474 | C | CTGTTGTT others(8): Show |
intron_variant | MODIFIER | HG02145.hp2 HG03041.hp2 HG03195.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0006a0001c0002t0006 | a0001c0001t0003g0107 a0001c0001t0003g0110 a0001c0001t0006g0192 others(1): Show |
4 | 48 | 0.0833 | 15 | c.275 others(32): Show |
SCARB2 | ENSG00000138760.11 | transcript | ENST00000264896.8 | protein_coding | 2/11 | chr4 | TogoVar | |||||||
SCD5_chr4_82624539_82803796 | 82679213 | A | AGAAAGAA others(8): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01167.hp2 HG03688.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(1): Show | a0001c0001t0001g0160 a0001c0001t0001g0175 a0001c0001t0002g0174 others(2): Show |
5 | 206 | 0.0243 | 15 | c.569 others(32): Show |
SCD5 | ENSG00000145284.12 | transcript | ENST00000319540.9 | protein_coding | 3/4 | chr4 | TogoVar | |||||||
SCD5_chr4_82624539_82803796 | 82679220 | A | AAAGAAAG others(8): Show |
intron_variant | MODIFIER | HG02965.hp2 HG03704.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0178 a0001c0001t0004g0100 |
2 | 123 | 0.0163 | 15 | c.569 others(32): Show |
SCD5 | ENSG00000145284.12 | transcript | ENST00000319540.9 | protein_coding | 3/4 | chr4 | TogoVar | |||||||
SCEL_chr13_77530706_77650263 | 77633442 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03669.hp1 NA18967.hp2 NA19081.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0097 a0003c0003t0001g0137 a0003c0003t0001g0291 |
3 | 104 | 0.0288 | 15 | c.169 others(32): Show |
SCEL | ENSG00000136155.17 | transcript | ENST00000349847.4 | protein_coding | 28/32 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SCFD2_chr4_52867982_53371061 | 53110041 | G | GGAACAGA others(8): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG01243.hp1 others(15): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0003others(5): Show | a0001c0001t0001g0042 a0001c0001t0001g0126 a0001c0001t0001g0131 others(15): Show |
18 | 59 | 0.3051 | 15 | c.156 others(36): Show |
SCFD2 | ENSG00000184178.17 | transcript | ENST00000401642.8 | protein_coding | 5/8 | chr4 | TogoVar | |||||||
SCFD2_chr4_52867982_53371061 | 53338575 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01255.hp1 HG02155.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(2): Show | a0001c0001t0001g0081 a0001c0001t0001g0097 a0001c0001t0001g0098 others(5): Show |
8 | 14 | 0.5714 | 15 | c.100 others(36): Show |
SCFD2 | ENSG00000184178.17 | transcript | ENST00000401642.8 | protein_coding | 2/8 | chr4 | TogoVar | |||||||
SCGB1C2_chr17_132569_144067 | 140918 | G | GACCTTGG others(8): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 HG02258.hp2 |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0015 | 2 | 149 | 0.0134 | 15 | c.*19 others(26): Show |
SCGB1C2 | ENSG00000268320.4 | transcript | ENST00000595228.4 | protein_coding | 1852 | chr17 | TogoVar | |||||||
SCGB1D1_chr11_62185216_62198539 | 62196439 | A | AATTATTA others(8): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(112): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(10): Show |
115 | 151 | 0.7616 | 15 | c.*30 others(26): Show |
SCGB1D1 | ENSG00000168515.3 | transcript | ENST00000306238.3 | protein_coding | 2901 | chr11 | TogoVar | |||||||
SCGB2A1_chr11_62203673_62218943 | 62213106 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 48 | 0.0208 | 15 | c.244 others(30): Show |
SCGB2A1 | ENSG00000124939.6 | transcript | ENST00000244930.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SCGB2A1_chr11_62203673_62218943 | 62213106 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG03540.hp2 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 2 | 49 | 0.0408 | 15 | c.244 others(30): Show |
SCGB2A1 | ENSG00000124939.6 | transcript | ENST00000244930.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SCGB2A1_chr11_62203673_62218943 | 62213106 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG02293.hp2 HG02818.hp2 HG02886.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0021 a0001c0001t0001g0081 others(1): Show |
6 | 53 | 0.1132 | 15 | c.244 others(30): Show |
SCGB2A1 | ENSG00000124939.6 | transcript | ENST00000244930.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SCGB2A2_chr11_62265158_62278160 | 62272042 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0055 others(1): Show |
17 | 75 | 0.2267 | 15 | c.244 others(30): Show |
SCGB2A2 | ENSG00000110484.7 | transcript | ENST00000227918.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SCGB2B2_chr19_34585644_34682159 | 34588846 | G | GACTTGGA others(8): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(269): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(86): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(256): Show |
272 | 368 | 0.7391 | 15 | c.*47 others(26): Show |
SCGB2B2 | ENSG00000205209.8 | transcript | ENST00000601241.6 | protein_coding | 1797 | chr19 | TogoVar | |||||||
SCHIP1_chr3_159268244_159902359 | 159468777 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 24 | 0.0417 | 15 | c.63+ others(34): Show |
SCHIP1 | ENSG00000283154.3 | transcript | ENST00000638749.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SCIN_chr7_12565720_12665182 | 12566611 | G | GTTTGTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG02015.hp2 HG02027.hp2 others(12): Show |
a0001a0010 | a0001c0001a0010c0011 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(10): Show | a0001c0001t0001g0029 a0001c0001t0001g0048 a0001c0001t0003g0037 others(12): Show |
15 | 325 | 0.0462 | 15 | c.-41 others(26): Show |
SCIN | ENSG00000006747.15 | transcript | ENST00000297029.10 | protein_coding | 4108 | chr7 | TogoVar | |||||||
SCIN_chr7_12565720_12665182 | 12578909 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01256.hp2 HG01258.hp2 others(15): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0003a0005c0007others(1): Show | a0001c0001t0052a0001c0001t0053a0001c0001t0054others(14): Show | a0001c0001t0052g0343 a0001c0001t0053g0344 a0001c0001t0054g0345 others(14): Show |
18 | 183 | 0.0984 | 15 | c.354 others(30): Show |
SCIN | ENSG00000006747.15 | transcript | ENST00000297029.10 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SCIN_chr7_12565720_12665182 | 12632083 | C | CATTTTAT others(8): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01175.hp1 HG01361.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0004 a0001c0001t0001g0101 a0001c0001t0002g0095 others(9): Show |
12 | 85 | 0.1412 | 15 | c.131 others(34): Show |
SCIN | ENSG00000006747.15 | transcript | ENST00000297029.10 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SCIN_chr7_12565720_12665182 | 12657572 | A | ATATATAT others(8): Show |
3_prime_UTR_variant | MODIFIER | NA20752.hp2 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0058 | 1 | 182 | 0.0055 | 15 | c.*48 others(26): Show |
SCIN | ENSG00000006747.15 | transcript | ENST00000297029.10 | protein_coding | 16/16 | 4859 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SCIN_chr7_12565720_12665182 | 12657572 | A | ATATATAT others(8): Show |
3_prime_UTR_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0140 | 1 | 182 | 0.0055 | 15 | c.*48 others(26): Show |
SCIN | ENSG00000006747.15 | transcript | ENST00000297029.10 | protein_coding | 16/16 | 4859 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SCIN_chr7_12565720_12665182 | 12657573 | T | TATATATA others(8): Show |
3_prime_UTR_variant | MODIFIER | HG01943.hp2 NA18959.hp2 NA19002.hp1 others(1): Show |
a0001a0013 | a0001c0001a0013c0020 | a0001c0001t0001a0001c0001t0096a0001c0001t0115others(1): Show | a0001c0001t0001g0091 a0001c0001t0096g0050 a0001c0001t0115g0100 others(1): Show |
4 | 342 | 0.0117 | 15 | c.*48 others(26): Show |
SCIN | ENSG00000006747.15 | transcript | ENST00000297029.10 | protein_coding | 16/16 | 4859 | chr7 | TogoVar | ||||||
SCIN_chr7_12565720_12665182 | 12661681 | G | GGTGTACA others(8): Show |
downstream_gene_variant | MODIFIER | HG02723.hp2 HG02922.hp2 HG02970.hp1 others(11): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0003a0002c0014others(4): Show | a0001c0001t0006a0001c0001t0050a0001c0001t0136others(8): Show | a0001c0001t0006g0016 a0001c0001t0050g0349 a0001c0001t0136g0117 others(11): Show |
14 | 370 | 0.0378 | 15 | c.*89 others(26): Show |
SCIN | ENSG00000006747.15 | transcript | ENST00000297029.10 | protein_coding | 1500 | chr7 | TogoVar | |||||||
SCLT1_chr4_128878993_129098539 | 128947857 | A | ATATACTT others(8): Show |
intron_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 286 | 0.0035 | 15 | c.129 others(32): Show |
SCLT1 | ENSG00000151466.12 | transcript | ENST00000281142.10 | protein_coding | 15/20 | chr4 | TogoVar | |||||||
SCLT1_chr4_128878993_129098539 | 128975040 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01515.hp1 |
a0001a0002 | a0001c0002a0002c0006 | a0001c0002t0001a0002c0006t0001 | a0001c0002t0001g0038 a0002c0006t0001g0182 a0002c0006t0001g0183 |
3 | 80 | 0.0375 | 15 | c.687 others(32): Show |
SCLT1 | ENSG00000151466.12 | transcript | ENST00000281142.10 | protein_coding | 9/20 | chr4 | TogoVar | |||||||
SCLT1_chr4_128878993_129098539 | 129033502 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA19077.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0279 | 1 | 77 | 0.0130 | 15 | c.290 others(32): Show |
SCLT1 | ENSG00000151466.12 | transcript | ENST00000281142.10 | protein_coding | 5/20 | chr4 | TogoVar | |||||||
SCLY_chr2_238056001_238104413 | 238065660 | T | TTTATTAT others(8): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00642.hp1 HG00735.hp2 others(43): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0008others(21): Show | a0001c0001t0004g0123 a0001c0001t0005g0073 a0001c0001t0008g0126 others(39): Show |
46 | 83 | 0.5542 | 15 | c.202 others(32): Show |
SCLY | ENSG00000132330.18 | transcript | ENST00000254663.12 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SCLY_chr2_238056001_238104413 | 238065660 | T | TTTTTTAT others(8): Show |
intron_variant | MODIFIER | HG01993.hp1 HG02004.hp1 HG02080.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0040 | a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 others(2): Show |
5 | 42 | 0.1190 | 15 | c.202 others(32): Show |
SCLY | ENSG00000132330.18 | transcript | ENST00000254663.12 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SCMH1_chr1_41022202_41247306 | 41089787 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01891.hp2 HG02630.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0008 | a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0031 others(10): Show |
13 | 71 | 0.1831 | 15 | c.746 others(34): Show |
SCMH1 | ENSG00000010803.17 | transcript | ENST00000695335.1 | protein_coding | 8/15 | chr1 | TogoVar | |||||||
SCMH1_chr1_41022202_41247306 | 41155984 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0299 a0001c0001t0006g0300 |
2 | 72 | 0.0278 | 15 | c.107 others(32): Show |
SCMH1 | ENSG00000010803.17 | transcript | ENST00000695335.1 | protein_coding | 4/15 | chr1 | TogoVar | |||||||
SCML4_chr6_107697154_107829313 | 107751647 | T | TTTCTTTC others(8): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 245 | 0.0041 | 15 | c.157 others(32): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
SCML4_chr6_107697154_107829313 | 107778220 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0075 | 1 | 242 | 0.0041 | 15 | c.-59 others(32): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
SCML4_chr6_107697154_107829313 | 107778222 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0036 | 1 | 174 | 0.0057 | 15 | c.-59 others(32): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
SCML4_chr6_107697154_107829313 | 107778222 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA18522.hp2 NA19043.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0025a0001c0003t0012 | a0001c0001t0025g0122 a0001c0003t0012g0136 |
2 | 175 | 0.0114 | 15 | c.-59 others(32): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar |