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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SCAPER_chr15_76342904_76910340 | 76667625 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02055.hp2 |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0001a0004c0008t0001 | a0001c0001t0001g0011 a0004c0008t0001g0175 |
2 | 312 | 0.0064 | 13 | c.250 others(32): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 20/31 | chr15 | TogoVar | |||||||
SCAP_chr3_47408681_47480941 | 47443306 | T | TCTCTCTC others(6): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 304 | 0.0033 | 13 | c.-98 others(28): Show |
SCAP | ENSG00000114650.21 | transcript | ENST00000265565.10 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
SCAP_chr3_47408681_47480941 | 47473080 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0288 | 1 | 304 | 0.0033 | 13 | c.-99 others(30): Show |
SCAP | ENSG00000114650.21 | transcript | ENST00000265565.10 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
SCARA3_chr8_27628902_27678018 | 27668546 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01243.hp2 HG04199.hp1 |
a0002 | a0002c0002 | a0002c0002t0004a0002c0002t0012 | a0002c0002t0004g0089 a0002c0002t0012g0105 |
2 | 408 | 0.0049 | 13 | c.137 others(32): Show |
SCARA3 | ENSG00000168077.14 | transcript | ENST00000301904.4 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SCARA5_chr8_27864883_27997673 | 27865788 | T | TATATATA others(6): Show |
downstream_gene_variant | MODIFIER | HG02723.hp2 | a0003 | a0003c0011 | a0003c0011t0034 | a0003c0011t0034g0135 | 1 | 314 | 0.0032 | 13 | c.*61 others(24): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4094 | chr8 | TogoVar | |||||||
SCARA5_chr8_27864883_27997673 | 27936592 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02056.hp1 HG02683.hp1 NA21309.hp2 |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0005a0001c0003t0039a0001c0005t0008 | a0001c0001t0005g0225 a0001c0003t0039g0023 a0001c0005t0008g0266 |
3 | 314 | 0.0096 | 13 | c.242 others(32): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
SCARB1_chr12_124771856_124868864 | 124790009 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0024 | 1 | 356 | 0.0028 | 13 | c.120 others(32): Show |
SCARB1 | ENSG00000073060.17 | transcript | ENST00000261693.11 | protein_coding | 9/12 | chr12 | TogoVar | |||||||
SCARB2_chr4_76153737_76218824 | 76170945 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0287 | 1 | 384 | 0.0026 | 13 | c.995 others(28): Show |
SCARB2 | ENSG00000138760.11 | transcript | ENST00000264896.8 | protein_coding | 7/11 | chr4 | TogoVar | |||||||
SCARB2_chr4_76153737_76218824 | 76182043 | C | CAAAATTT others(6): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00558.hp1 HG00558.hp2 others(110): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0003c0006others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(7): Show | a0001c0001t0003g0001 a0001c0001t0003g0006 a0001c0001t0003g0007 others(81): Show |
113 | 384 | 0.2943 | 13 | c.276 others(28): Show |
SCARB2 | ENSG00000138760.11 | transcript | ENST00000264896.8 | protein_coding | 2/11 | chr4 | TogoVar | |||||||
SCARB2_chr4_76153737_76218824 | 76197516 | T | TCAAACTG others(6): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02809.hp2 HG02818.hp1 others(4): Show |
a0002 | a0002c0003 | a0002c0003t0004a0002c0003t0006a0002c0003t0014others(3): Show | a0002c0003t0004g0241 a0002c0003t0006g0189 a0002c0003t0014g0242 others(4): Show |
7 | 384 | 0.0182 | 13 | c.118 others(30): Show |
SCARB2 | ENSG00000138760.11 | transcript | ENST00000264896.8 | protein_coding | 1/11 | chr4 | TogoVar | |||||||
SCCPDH_chr1_246719409_246773137 | 246746107 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0010 | a0001c0010t0008 | a0001c0010t0008g0251 | 1 | 410 | 0.0024 | 13 | c.564 others(30): Show |
SCCPDH | ENSG00000143653.10 | transcript | ENST00000366510.4 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCD5_chr4_82624539_82803796 | 82702130 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0163 | 1 | 210 | 0.0048 | 13 | c.363 others(30): Show |
SCD5 | ENSG00000145284.12 | transcript | ENST00000319540.9 | protein_coding | 2/4 | chr4 | TogoVar | |||||||
SCD5_chr4_82624539_82803796 | 82708919 | T | TAATAATA others(6): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG00558.hp2 others(148): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0019 others(148): Show |
151 | 210 | 0.7191 | 13 | c.233 others(30): Show |
SCD5 | ENSG00000145284.12 | transcript | ENST00000319540.9 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
SCD5_chr4_82624539_82803796 | 82747069 | G | GCCCCCCC others(6): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 210 | 0.0048 | 13 | c.233 others(32): Show |
SCD5 | ENSG00000145284.12 | transcript | ENST00000319540.9 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
SCEL_chr13_77530706_77650263 | 77633442 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01433.hp2 HG01516.hp2 others(31): Show |
a0002a0003a0004others(1): Show | a0002c0001a0003c0003a0004c0008others(1): Show | a0002c0001t0001a0003c0003t0001a0004c0008t0001others(1): Show | a0002c0001t0001g0114 a0002c0001t0001g0160 a0002c0001t0001g0188 others(31): Show |
34 | 356 | 0.0955 | 13 | c.169 others(30): Show |
SCEL | ENSG00000136155.17 | transcript | ENST00000349847.4 | protein_coding | 28/32 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SCFD2_chr4_52867982_53371061 | 53007334 | G | GAGAGAGA others(6): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0095 | 1 | 162 | 0.0062 | 13 | c.156 others(34): Show |
SCFD2 | ENSG00000184178.17 | transcript | ENST00000401642.8 | protein_coding | 5/8 | chr4 | TogoVar | |||||||
SCFD2_chr4_52867982_53371061 | 53244900 | C | CACAATTA others(6): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00642.hp1 others(16): Show |
a0001a0005a0007 | a0001c0005a0001c0007a0005c0011others(2): Show | a0001c0005t0001a0001c0005t0003a0001c0005t0004others(5): Show | a0001c0005t0001g0023 a0001c0005t0001g0024 a0001c0005t0001g0026 others(16): Show |
19 | 162 | 0.1173 | 13 | c.131 others(34): Show |
SCFD2 | ENSG00000184178.17 | transcript | ENST00000401642.8 | protein_coding | 4/8 | chr4 | TogoVar | |||||||
SCFD2_chr4_52867982_53371061 | 53370409 | C | CCTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0064 | 1 | 162 | 0.0062 | 13 | c.-44 others(24): Show |
SCFD2 | ENSG00000184178.17 | transcript | ENST00000401642.8 | protein_coding | 4349 | chr4 | TogoVar | |||||||
SCG3_chr15_51676503_51726026 | 51709693 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0277 | 1 | 402 | 0.0025 | 13 | c.120 others(32): Show |
SCG3 | ENSG00000104112.9 | transcript | ENST00000220478.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SCG3_chr15_51676503_51726026 | 51709701 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246 | 1 | 402 | 0.0025 | 13 | c.120 others(32): Show |
SCG3 | ENSG00000104112.9 | transcript | ENST00000220478.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SCG3_chr15_51676503_51726026 | 51709701 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250 | 1 | 402 | 0.0025 | 13 | c.120 others(32): Show |
SCG3 | ENSG00000104112.9 | transcript | ENST00000220478.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SCG3_chr15_51676503_51726026 | 51717570 | T | TTCAGAGA others(6): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 402 | 0.0025 | 13 | c.128 others(32): Show |
SCG3 | ENSG00000104112.9 | transcript | ENST00000220478.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SCGB1C1_chr11_188078_199575 | 196267 | T | TTGGTGAG others(6): Show |
downstream_gene_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 354 | 0.0028 | 13 | c.*18 others(24): Show |
SCGB1C1 | ENSG00000188076.3 | transcript | ENST00000342878.3 | protein_coding | 1693 | chr11 | TogoVar | |||||||
SCGB1C2_chr17_132569_144067 | 140831 | C | CTGGTGAG others(6): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 HG00738.hp2 HG01070.hp2 others(57): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0001 | a0001c0001t0004g0003 a0002c0002t0001g0003 a0002c0002t0001g0013 others(4): Show |
60 | 402 | 0.1493 | 13 | c.*18 others(24): Show |
SCGB1C2 | ENSG00000268320.4 | transcript | ENST00000595228.4 | protein_coding | 1765 | chr17 | TogoVar | |||||||
SCGB1C2_chr17_132569_144067 | 140950 | G | GGGAAACC others(6): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 HG02723.hp2 HG02895.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0001a0003c0008t0001 | a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0018 others(1): Show |
6 | 402 | 0.0149 | 13 | c.*20 others(24): Show |
SCGB1C2 | ENSG00000268320.4 | transcript | ENST00000595228.4 | protein_coding | 1884 | chr17 | TogoVar | |||||||
SCGB1C2_chr17_132569_144067 | 140958 | T | TTGGTGAG others(6): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00438.hp1 others(127): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0010 others(3): Show |
130 | 402 | 0.3234 | 13 | c.*20 others(24): Show |
SCGB1C2 | ENSG00000268320.4 | transcript | ENST00000595228.4 | protein_coding | 1892 | chr17 | TogoVar | |||||||
SCGB1C2_chr17_132569_144067 | 141059 | T | TGGTGAGG others(6): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 HG02258.hp2 |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0015 | 2 | 402 | 0.0050 | 13 | c.*21 others(24): Show |
SCGB1C2 | ENSG00000268320.4 | transcript | ENST00000595228.4 | protein_coding | 1993 | chr17 | TogoVar | |||||||
SCGB1C2_chr17_132569_144067 | 141214 | T | TTGGTGAG others(6): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(183): Show |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0002a0006c0006t0002 | a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0006 others(7): Show |
186 | 402 | 0.4627 | 13 | c.*22 others(24): Show |
SCGB1C2 | ENSG00000268320.4 | transcript | ENST00000595228.4 | protein_coding | 2148 | chr17 | TogoVar | |||||||
SCGB1C2_chr17_132569_144067 | 141214 | T | TTGGTGTG others(6): Show |
downstream_gene_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 402 | 0.0025 | 13 | c.*22 others(24): Show |
SCGB1C2 | ENSG00000268320.4 | transcript | ENST00000595228.4 | protein_coding | 2148 | chr17 | TogoVar | |||||||
SCGB1C2_chr17_132569_144067 | 141289 | T | TTGGTGAG others(6): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(55): Show |
a0001a0006 | a0001c0001a0001c0005a0006c0006 | a0001c0001t0002a0001c0005t0001a0006c0006t0002 | a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0008 others(3): Show |
58 | 402 | 0.1443 | 13 | c.*23 others(24): Show |
SCGB1C2 | ENSG00000268320.4 | transcript | ENST00000595228.4 | protein_coding | 2223 | chr17 | TogoVar | |||||||
SCGB1C2_chr17_132569_144067 | 141314 | T | TTGGTGAG others(6): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(54): Show |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0002a0006c0006t0002 | a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0008 others(2): Show |
57 | 402 | 0.1418 | 13 | c.*23 others(24): Show |
SCGB1C2 | ENSG00000268320.4 | transcript | ENST00000595228.4 | protein_coding | 2248 | chr17 | TogoVar | |||||||
SCGB1C2_chr17_132569_144067 | 141352 | T | TTGGTGAG others(6): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00438.hp1 others(125): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0006 others(5): Show |
128 | 402 | 0.3184 | 13 | c.*24 others(24): Show |
SCGB1C2 | ENSG00000268320.4 | transcript | ENST00000595228.4 | protein_coding | 2286 | chr17 | TogoVar | |||||||
SCGB1D1_chr11_62185216_62198539 | 62196466 | T | TATTATTA others(6): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 424 | 0.0024 | 13 | c.*30 others(24): Show |
SCGB1D1 | ENSG00000168515.3 | transcript | ENST00000306238.3 | protein_coding | 2928 | chr11 | TogoVar | |||||||
SCGB1D4_chr11_62291281_62304075 | 62300773 | G | GCCAAAAT others(6): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 430 | 0.0023 | 13 | c.-17 others(24): Show |
SCGB1D4 | ENSG00000197745.3 | transcript | ENST00000358585.3 | protein_coding | 1699 | chr11 | TogoVar | |||||||
SCGB2A1_chr11_62203673_62218943 | 62213106 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG01934.hp2 HG01943.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 a0001c0001t0001g0210 |
2 | 442 | 0.0045 | 13 | c.244 others(28): 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(6): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01099.hp1 HG01884.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0032 a0001c0001t0001g0055 a0001c0001t0001g0103 others(5): Show |
11 | 442 | 0.0249 | 13 | c.244 others(28): 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(6): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01175.hp2 HG01257.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0061 a0001c0001t0001g0107 a0001c0001t0001g0108 others(2): Show |
5 | 442 | 0.0113 | 13 | c.244 others(28): 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(6): Show |
intron_variant | MODIFIER | HG03834.hp2 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 a0001c0001t0001g0181 |
2 | 442 | 0.0045 | 13 | c.244 others(28): Show |
SCGB2A1 | ENSG00000124939.6 | transcript | ENST00000244930.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SCGB2A1_chr11_62203673_62218943 | 62213107 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 442 | 0.0023 | 13 | c.244 others(28): Show |
SCGB2A1 | ENSG00000124939.6 | transcript | ENST00000244930.6 | protein_coding | 2/2 | chr11 | TogoVar | |||||||
SCGB2B2_chr19_34585644_34682159 | 34637917 | A | AAGTAAAC others(6): Show |
intron_variant | MODIFIER | NA18986.hp1 NA18994.hp2 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0031 a0001c0001t0010g0059 |
2 | 370 | 0.0054 | 13 | c.-20 others(36): Show |
SCGB2B2 | ENSG00000205209.8 | transcript | ENST00000601241.6 | protein_coding | 1/3 | chr19 | TogoVar | |||||||
SCGN_chr6_25647215_25706783 | 25688801 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG01109.hp2 others(16): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0001g0039 a0001c0001t0001g0105 a0001c0001t0001g0107 others(16): Show |
19 | 368 | 0.0516 | 13 | c.528 others(28): Show |
SCGN | ENSG00000079689.15 | transcript | ENST00000377961.3 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SCHIP1_chr3_159268244_159902359 | 159300113 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00642.hp1 HG01891.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0004g0059 |
3 | 100 | 0.0300 | 13 | c.63+ others(30): Show |
SCHIP1 | ENSG00000283154.3 | transcript | ENST00000638749.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SCHIP1_chr3_159268244_159902359 | 159468777 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03139.hp2 NA19030.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0071 a0001c0001t0001g0078 a0001c0002t0001g0054 others(1): Show |
4 | 100 | 0.0400 | 13 | c.63+ others(32): Show |
SCHIP1 | ENSG00000283154.3 | transcript | ENST00000638749.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SCHIP1_chr3_159268244_159902359 | 159618446 | G | GTTCACAT others(6): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02055.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0003 a0001c0001t0001g0023 a0001c0001t0001g0031 others(7): Show |
10 | 100 | 0.1000 | 13 | c.64- others(32): Show |
SCHIP1 | ENSG00000283154.3 | transcript | ENST00000638749.2 | protein_coding | 1/7 | chr3 | TogoVar | |||||||
SCHIP1_chr3_159268244_159902359 | 159668376 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 100 | 0.0100 | 13 | c.64- others(30): Show |
SCHIP1 | ENSG00000283154.3 | transcript | ENST00000638749.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SCHIP1_chr3_159268244_159902359 | 159842997 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0053 | 1 | 100 | 0.0100 | 13 | c.760 others(32): Show |
SCHIP1 | ENSG00000283154.3 | transcript | ENST00000638749.2 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SCHIP1_chr3_159268244_159902359 | 159843001 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 100 | 0.0100 | 13 | c.760 others(32): Show |
SCHIP1 | ENSG00000283154.3 | transcript | ENST00000638749.2 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SCIN_chr7_12565720_12665182 | 12632139 | A | AATTTTAT others(6): Show |
intron_variant | MODIFIER | HG02970.hp2 HG02976.hp1 HG03130.hp1 others(3): Show |
a0001a0002a0008others(1): Show | a0001c0001a0002c0003a0008c0009others(1): Show | a0001c0001t0041a0001c0001t0228a0001c0001t0266others(3): Show | a0001c0001t0041g0197 a0001c0001t0228g0199 a0001c0001t0266g0198 others(3): Show |
6 | 372 | 0.0161 | 13 | c.131 others(32): Show |
SCIN | ENSG00000006747.15 | transcript | ENST00000297029.10 | protein_coding | 9/15 | chr7 | TogoVar | |||||||
SCIN_chr7_12565720_12665182 | 12657572 | A | ATATATAT others(6): Show |
3_prime_UTR_variant | MODIFIER | HG01515.hp2 | a0002 | a0002c0002 | a0002c0002t0241 | a0002c0002t0241g0294 | 1 | 372 | 0.0027 | 13 | c.*48 others(24): 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(6): Show |
3_prime_UTR_variant | MODIFIER | NA18951.hp2 | a0007 | a0007c0008 | a0007c0008t0247 | a0007c0008t0247g0136 | 1 | 372 | 0.0027 | 13 | c.*48 others(24): Show |
SCIN | ENSG00000006747.15 | transcript | ENST00000297029.10 | protein_coding | 16/16 | 4859 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |