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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SCD5_chr4_82624539_82803796 | 82720441 | T | TACAAA | intron_variant | MODIFIER | HG00558.hp2 HG00621.hp2 HG00673.hp1 others(22): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0001g0033 others(22): Show |
25 | 210 | 0.1191 | 5 | c.233 others(24): Show |
SCD5 | ENSG00000145284.12 | transcript | ENST00000319540.9 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
SCD5_chr4_82624539_82803796 | 82724005 | T | TACACA | intron_variant | MODIFIER | HG00280.hp1 HG02602.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0106 a0001c0001t0007g0185 |
2 | 210 | 0.0095 | 5 | c.233 others(24): Show |
SCD5 | ENSG00000145284.12 | transcript | ENST00000319540.9 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
SCD5_chr4_82624539_82803796 | 82747069 | G | GCCCCC | intron_variant | MODIFIER | HG00642.hp2 HG00673.hp2 HG01891.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0022 a0001c0001t0001g0032 a0001c0001t0001g0033 others(15): Show |
18 | 210 | 0.0857 | 5 | c.233 others(24): Show |
SCD5 | ENSG00000145284.12 | transcript | ENST00000319540.9 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
SCD5_chr4_82624539_82803796 | 82798080 | T | TGGGGC | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG03209.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0009a0001c0001t0010others(1): Show | a0001c0001t0008g0197 a0001c0001t0009g0198 a0001c0001t0010g0196 others(1): Show |
4 | 210 | 0.0191 | 5 | c.232 others(20): Show |
SCD5 | ENSG00000145284.12 | transcript | ENST00000319540.9 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
SCEL_chr13_77530706_77650263 | 77559510 | A | AAACAC | intron_variant | MODIFIER | HG00544.hp1 HG00621.hp1 HG00621.hp2 others(55): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0004a0002c0001others(4): Show | a0001c0002t0002a0001c0004t0001a0001c0004t0002others(6): Show | a0001c0002t0002g0196 a0001c0002t0002g0197 a0001c0002t0002g0203 others(53): Show |
58 | 356 | 0.1629 | 5 | c.162 others(20): Show |
SCEL | ENSG00000136155.17 | transcript | ENST00000349847.4 | protein_coding | 3/32 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SCEL_chr13_77530706_77650263 | 77604408 | A | AATGTC | frameshift_variant | HIGH | NA19065.hp1 | a0014 | a0014c0024 | a0014c0024t0001 | a0014c0024t0001g0297 | 1 | 356 | 0.0028 | 5 | c.115 others(14): Show |
p.Ile others(5): Show |
SCEL | ENSG00000136155.17 | transcript | ENST00000349847.4 | protein_coding | 19/33 | 1289/3194 | 1151/2067 | 384/688 | chr13 | TogoVar | |||
SCFD1_chr14_30617319_30740850 | 30684803 | C | CTTTTT | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp1 HG02615.hp1 others(14): Show |
a0001a0005 | a0001c0001a0005c0015 | a0001c0001t0001a0005c0015t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(14): Show |
17 | 328 | 0.0518 | 5 | c.124 others(24): Show |
SCFD1 | ENSG00000092108.22 | transcript | ENST00000458591.7 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SCFD2_chr4_52867982_53371061 | 52943221 | T | TAAACA | intron_variant | MODIFIER | HG02258.hp2 HG02717.hp2 HG03130.hp2 others(2): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0008 | a0001c0001t0002a0001c0001t0004a0001c0004t0002others(1): Show | a0001c0001t0002g0040 a0001c0001t0002g0141 a0001c0001t0004g0044 others(2): Show |
5 | 162 | 0.0309 | 5 | c.156 others(26): Show |
SCFD2 | ENSG00000184178.17 | transcript | ENST00000401642.8 | protein_coding | 5/8 | chr4 | TogoVar | |||||||
SCFD2_chr4_52867982_53371061 | 53110041 | G | GGAACA | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG01168.hp2 others(40): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(11): Show | a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 others(40): Show |
43 | 162 | 0.2654 | 5 | c.156 others(26): Show |
SCFD2 | ENSG00000184178.17 | transcript | ENST00000401642.8 | protein_coding | 5/8 | chr4 | TogoVar | |||||||
SCFD2_chr4_52867982_53371061 | 53164804 | A | AAAAAG | intron_variant | MODIFIER | HG00558.hp2 HG00642.hp2 HG01261.hp2 others(13): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0054 others(13): Show |
16 | 162 | 0.0988 | 5 | c.131 others(26): Show |
SCFD2 | ENSG00000184178.17 | transcript | ENST00000401642.8 | protein_coding | 4/8 | chr4 | TogoVar | |||||||
SCFD2_chr4_52867982_53371061 | 53212483 | T | TAAATA | intron_variant | MODIFIER | HG00642.hp2 HG02622.hp2 HG02717.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0003 | a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0070 others(3): Show |
6 | 162 | 0.0370 | 5 | c.131 others(26): Show |
SCFD2 | ENSG00000184178.17 | transcript | ENST00000401642.8 | protein_coding | 4/8 | chr4 | TogoVar | |||||||
SCFD2_chr4_52867982_53371061 | 53323446 | T | TCACTA | intron_variant | MODIFIER | HG02109.hp1 HG02630.hp2 HG02647.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0003others(1): Show | a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 others(6): Show |
9 | 162 | 0.0556 | 5 | c.100 others(24): Show |
SCFD2 | ENSG00000184178.17 | transcript | ENST00000401642.8 | protein_coding | 2/8 | chr4 | TogoVar | |||||||
SCFD2_chr4_52867982_53371061 | 53323530 | A | ATTTTT | intron_variant | MODIFIER | HG01358.hp1 HG02004.hp2 HG02129.hp2 others(14): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0003others(3): Show | a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 others(14): Show |
17 | 162 | 0.1049 | 5 | c.100 others(24): Show |
SCFD2 | ENSG00000184178.17 | transcript | ENST00000401642.8 | protein_coding | 2/8 | chr4 | TogoVar | |||||||
SCFD2_chr4_52867982_53371061 | 53338575 | C | CTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(62): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(18): Show | a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 others(62): Show |
65 | 162 | 0.4012 | 5 | c.100 others(26): Show |
SCFD2 | ENSG00000184178.17 | transcript | ENST00000401642.8 | protein_coding | 2/8 | chr4 | TogoVar | |||||||
SCFD2_chr4_52867982_53371061 | 53370409 | C | CCTTTT | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00735.hp1 HG01346.hp2 others(7): Show |
a0001a0003 | a0001c0001a0001c0005a0001c0007others(1): Show | a0001c0001t0002a0001c0001t0008a0001c0005t0001others(4): Show | a0001c0001t0002g0040 a0001c0001t0008g0111 a0001c0005t0001g0023 others(7): Show |
10 | 162 | 0.0617 | 5 | c.-44 others(16): Show |
SCFD2 | ENSG00000184178.17 | transcript | ENST00000401642.8 | protein_coding | 4349 | chr4 | TogoVar | |||||||
SCG2_chr2_223591940_223607361 | 223593965 | A | AAAAAC | downstream_gene_variant | MODIFIER | HG01109.hp2 HG02451.hp2 HG02922.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 a0001c0001t0002g0012 |
8 | 394 | 0.0203 | 5 | c.*34 others(16): Show |
SCG2 | ENSG00000171951.5 | transcript | ENST00000305409.3 | protein_coding | 2974 | chr2 | TogoVar | |||||||
SCG3_chr15_51676503_51726026 | 51721341 | A | AGGCAG | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(134): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0010others(5): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0014others(8): Show | a0001c0001t0001g0007 a0001c0001t0001g0024 a0001c0001t0001g0025 others(132): Show |
137 | 402 | 0.3408 | 5 | c.*18 others(16): Show |
SCG3 | ENSG00000104112.9 | transcript | ENST00000220478.8 | protein_coding | 316 | chr15 | TogoVar | |||||||
SCG5_chr15_32636710_32702092 | 32667111 | T | TATTAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(407): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(396): Show |
410 | 415 | 0.9880 | 5 | c.227 others(24): Show |
SCG5 | ENSG00000166922.9 | transcript | ENST00000300175.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SCGB1A1_chr11_62414033_62428195 | 62416342 | C | CGAGTA | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG01261.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0022 a0001c0001t0001g0037 a0001c0001t0002g0004 others(3): Show |
29 | 448 | 0.0647 | 5 | c.-27 others(16): Show |
SCGB1A1 | ENSG00000149021.7 | transcript | ENST00000278282.3 | protein_coding | 2690 | chr11 | TogoVar | |||||||
SCGB2A2_chr11_62265158_62278160 | 62272042 | T | TAAAAA | intron_variant | MODIFIER | HG01884.hp1 HG02280.hp1 HG02622.hp1 others(17): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0006 a0001c0003t0001g0065 a0001c0003t0001g0066 |
20 | 390 | 0.0513 | 5 | c.244 others(20): Show |
SCGB2A2 | ENSG00000110484.7 | transcript | ENST00000227918.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SCGB2B2_chr19_34585644_34682159 | 34603795 | C | CTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(88): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0014 others(86): Show |
91 | 370 | 0.2460 | 5 | c.-20 others(26): Show |
SCGB2B2 | ENSG00000205209.8 | transcript | ENST00000601241.6 | protein_coding | 1/3 | chr19 | TogoVar | |||||||
SCGB2B2_chr19_34585644_34682159 | 34627430 | G | GAAAAC | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02109.hp2 others(11): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0009a0001c0001t0011a0001c0001t0012others(5): Show | a0001c0001t0009g0121 a0001c0001t0009g0192 a0001c0001t0011g0120 others(11): Show |
14 | 370 | 0.0378 | 5 | c.-20 others(28): Show |
SCGB2B2 | ENSG00000205209.8 | transcript | ENST00000601241.6 | protein_coding | 1/3 | chr19 | TogoVar | |||||||
SCGB2B2_chr19_34585644_34682159 | 34642714 | C | CAAAAA | intron_variant | MODIFIER | HG01358.hp1 HG02055.hp1 HG02683.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0017others(2): Show | a0001c0001t0001g0087 a0001c0001t0003g0273 a0001c0001t0003g0274 others(6): Show |
9 | 370 | 0.0243 | 5 | c.-20 others(28): Show |
SCGB2B2 | ENSG00000205209.8 | transcript | ENST00000601241.6 | protein_coding | 1/3 | chr19 | TogoVar | |||||||
SCGB3A2_chr5_147873711_147887191 | 147884661 | C | CTTTCT | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02258.hp1 HG02486.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 11 | 424 | 0.0259 | 5 | c.*26 others(16): Show |
SCGB3A2 | ENSG00000164265.9 | transcript | ENST00000296694.5 | protein_coding | 2471 | chr5 | TogoVar | |||||||
SCHIP1_chr3_159268244_159902359 | 159269713 | A | ATGCTT | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00642.hp1 HG01106.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(1): Show | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(20): Show |
23 | 100 | 0.2300 | 5 | c.-41 others(16): Show |
SCHIP1 | ENSG00000283154.3 | transcript | ENST00000638749.2 | protein_coding | 3530 | chr3 | TogoVar | |||||||
SCHIP1_chr3_159268244_159902359 | 159300113 | C | CTTTTT | intron_variant | MODIFIER | HG01243.hp1 HG01255.hp1 HG01433.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0025 a0001c0001t0001g0044 a0001c0001t0001g0045 others(9): Show |
12 | 100 | 0.1200 | 5 | c.63+ others(22): Show |
SCHIP1 | ENSG00000283154.3 | transcript | ENST00000638749.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SCHIP1_chr3_159268244_159902359 | 159732658 | C | CCAGGG | intron_variant | MODIFIER | HG01243.hp1 HG02630.hp1 HG02922.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0004t0001a0002c0003t0001 | a0001c0001t0001g0003 a0001c0001t0001g0087 a0001c0004t0001g0018 others(1): Show |
4 | 100 | 0.0400 | 5 | c.64- others(22): Show |
SCHIP1 | ENSG00000283154.3 | transcript | ENST00000638749.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SCHIP1_chr3_159268244_159902359 | 159740771 | G | GAAAAA | intron_variant | MODIFIER | HG01891.hp2 HG02145.hp2 HG02572.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0081 a0001c0002t0001g0033 a0001c0002t0001g0048 others(1): Show |
4 | 100 | 0.0400 | 5 | c.64- others(22): Show |
SCHIP1 | ENSG00000283154.3 | transcript | ENST00000638749.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SCHIP1_chr3_159268244_159902359 | 159843822 | C | CAAAAA | intron_variant | MODIFIER | HG01169.hp2 HG01891.hp2 HG02717.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0021 a0001c0002t0001g0024 a0001c0002t0001g0030 others(5): Show |
8 | 100 | 0.0800 | 5 | c.760 others(24): Show |
SCHIP1 | ENSG00000283154.3 | transcript | ENST00000638749.2 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SCHIP1_chr3_159268244_159902359 | 159843846 | A | AAAAAG | intron_variant | MODIFIER | HG01106.hp1 HG02698.hp2 HG02922.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0009 others(4): Show |
7 | 100 | 0.0700 | 5 | c.760 others(24): Show |
SCHIP1 | ENSG00000283154.3 | transcript | ENST00000638749.2 | protein_coding | 2/7 | chr3 | TogoVar | |||||||
SCIMP_chr17_5203920_5239860 | 5236042 | C | CTTTCT | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00642.hp1 others(28): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(4): Show | a0001c0001t0001g0276 a0001c0001t0004g0317 a0001c0001t0004g0333 others(26): Show |
31 | 386 | 0.0803 | 5 | c.-12 others(16): Show |
SCIMP | ENSG00000161929.15 | transcript | ENST00000574081.6 | protein_coding | 1183 | chr17 | TogoVar | |||||||
SCIN_chr7_12565720_12665182 | 12566611 | G | GTTTGT | upstream_gene_variant | MODIFIER | HG02809.hp1 HG02970.hp2 HG03486.hp1 others(1): Show |
a0001a0008 | a0001c0001a0008c0009 | a0001c0001t0165a0008c0009t0003a0008c0009t0223others(1): Show | a0001c0001t0165g0104 a0008c0009t0003g0243 a0008c0009t0223g0242 others(1): Show |
4 | 372 | 0.0108 | 5 | c.-41 others(16): Show |
SCIN | ENSG00000006747.15 | transcript | ENST00000297029.10 | protein_coding | 4108 | chr7 | TogoVar | |||||||
SCIN_chr7_12565720_12665182 | 12632083 | C | CATTTT | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00642.hp1 others(80): Show |
a0001a0002a0004others(9): Show | a0001c0001a0002c0002a0002c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(73): Show | a0001c0001t0001g0054 a0001c0001t0001g0110 a0001c0001t0001g0123 others(80): Show |
83 | 372 | 0.2231 | 5 | c.131 others(24): Show |
SCIN | ENSG00000006747.15 | transcript | ENST00000297029.10 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SCIN_chr7_12565720_12665182 | 12635611 | C | CAAAAA | intron_variant | MODIFIER | HG01175.hp2 HG01993.hp1 HG02717.hp1 others(13): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0005a0001c0001t0022a0001c0001t0025others(13): Show | a0001c0001t0005g0049 a0001c0001t0022g0045 a0001c0001t0025g0022 others(13): Show |
16 | 372 | 0.0430 | 5 | c.132 others(22): Show |
SCIN | ENSG00000006747.15 | transcript | ENST00000297029.10 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SCIN_chr7_12565720_12665182 | 12657573 | T | TATATA | 3_prime_UTR_variant | MODIFIER | HG03041.hp1 NA18954.hp2 NA18971.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0208a0001c0001t0210a0002c0002t0131others(1): Show | a0001c0001t0208g0209 a0001c0001t0210g0128 a0002c0002t0131g0278 others(1): Show |
4 | 372 | 0.0108 | 5 | c.*48 others(16): Show |
SCIN | ENSG00000006747.15 | transcript | ENST00000297029.10 | protein_coding | 16/16 | 4859 | chr7 | TogoVar | ||||||
SCLT1_chr4_128878993_129098539 | 129033502 | T | TAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG01515.hp2 HG02698.hp2 others(4): Show |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0006 | a0001c0004t0001g0018 a0001c0004t0001g0021 a0001c0004t0001g0023 others(4): Show |
7 | 288 | 0.0243 | 5 | c.290 others(22): Show |
SCLT1 | ENSG00000151466.12 | transcript | ENST00000281142.10 | protein_coding | 5/20 | chr4 | TogoVar | |||||||
SCLT1_chr4_128878993_129098539 | 129053557 | A | ATTTTT | intron_variant | MODIFIER | HG00140.hp1 HG01081.hp2 HG01106.hp1 others(7): Show |
a0001a0002 | a0001c0002a0001c0004a0002c0003 | a0001c0002t0001a0001c0002t0005a0001c0004t0001others(2): Show | a0001c0002t0001g0044 a0001c0002t0001g0054 a0001c0002t0001g0058 others(7): Show |
10 | 288 | 0.0347 | 5 | c.103 others(22): Show |
SCLT1 | ENSG00000151466.12 | transcript | ENST00000281142.10 | protein_coding | 2/20 | chr4 | TogoVar | |||||||
SCLY_chr2_238056001_238104413 | 238084893 | C | CAAAAA | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00544.hp2 others(149): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0005others(7): Show | a0001c0001t0006a0001c0001t0029a0001c0001t0054others(71): Show | a0001c0001t0006g0125 a0001c0001t0029g0014 a0001c0001t0054g0189 others(132): Show |
152 | 392 | 0.3878 | 5 | c.884 others(22): Show |
SCLY | ENSG00000132330.18 | transcript | ENST00000254663.12 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SCLY_chr2_238056001_238104413 | 238086708 | T | TAAAAA | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00544.hp2 others(96): Show |
a0001a0002a0003others(4): Show | a0001c0003a0001c0005a0002c0002others(6): Show | a0001c0003t0003a0001c0003t0006a0001c0003t0009others(53): Show | a0001c0003t0003g0164 a0001c0003t0003g0168 a0001c0003t0003g0183 others(86): Show |
99 | 392 | 0.2526 | 5 | c.884 others(22): Show |
SCLY | ENSG00000132330.18 | transcript | ENST00000254663.12 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SCMH1_chr1_41022202_41247306 | 41032978 | C | CAAAAA | intron_variant | MODIFIER | HG01109.hp1 HG01346.hp2 HG02027.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0074 others(4): Show |
7 | 304 | 0.0230 | 5 | c.174 others(24): Show |
SCMH1 | ENSG00000010803.17 | transcript | ENST00000695335.1 | protein_coding | 14/15 | chr1 | TogoVar | |||||||
SCMH1_chr1_41022202_41247306 | 41058378 | G | GTTTTT | intron_variant | MODIFIER | HG02280.hp1 HG02486.hp1 HG02559.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0001a0003c0002t0001 | a0001c0001t0001g0029 a0001c0001t0001g0149 a0001c0001t0001g0150 others(4): Show |
7 | 304 | 0.0230 | 5 | c.110 others(24): Show |
SCMH1 | ENSG00000010803.17 | transcript | ENST00000695335.1 | protein_coding | 10/15 | chr1 | TogoVar | |||||||
SCMH1_chr1_41022202_41247306 | 41086553 | C | CCCCTG | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00558.hp2 others(53): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0004a0001c0001t0005a0001c0001t0010others(1): Show | a0001c0001t0004g0246 a0001c0001t0004g0247 a0001c0001t0004g0248 others(53): Show |
56 | 304 | 0.1842 | 5 | c.746 others(24): Show |
SCMH1 | ENSG00000010803.17 | transcript | ENST00000695335.1 | protein_coding | 8/15 | chr1 | TogoVar | |||||||
SCML1_chrX_17732493_17759985 | 17734989 | A | ATTAAT | upstream_gene_variant | MODIFIER | HG02622.hp2 HG03225.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 3 | 281 | 0.0107 | 5 | c.-28 others(16): Show |
SCML1 | ENSG00000047634.15 | transcript | ENST00000380041.8 | protein_coding | 2503 | chrX | TogoVar | |||||||
SCML2_chrX_18234313_18359688 | 18251309 | C | CAAAAA | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 247 | 0.0041 | 5 | c.145 others(24): Show |
SCML2 | ENSG00000102098.19 | transcript | ENST00000251900.9 | protein_coding | 11/14 | chrX | TogoVar | |||||||
SCML2_chrX_18234313_18359688 | 18331259 | C | CAAAAA | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 HG02257.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0229 others(9): Show |
12 | 247 | 0.0486 | 5 | c.23- others(18): Show |
SCML2 | ENSG00000102098.19 | transcript | ENST00000251900.9 | protein_coding | 2/14 | chrX | TogoVar | |||||||
SCML2_chrX_18234313_18359688 | 18343939 | A | AAAAAG | intron_variant | MODIFIER | HG02559.hp2 HG02922.hp2 HG03453.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0225 a0001c0001t0001g0235 a0001c0002t0001g0088 others(1): Show |
4 | 247 | 0.0162 | 5 | c.-24 others(22): Show |
SCML2 | ENSG00000102098.19 | transcript | ENST00000251900.9 | protein_coding | 1/14 | chrX | TogoVar | |||||||
SCML2_chrX_18234313_18359688 | 18344835 | A | AGGGAG | intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0012 | 1 | 247 | 0.0041 | 5 | c.-25 others(22): Show |
SCML2 | ENSG00000102098.19 | transcript | ENST00000251900.9 | protein_coding | 1/14 | chrX | TogoVar | |||||||
SCML4_chr6_107697154_107829313 | 107821283 | C | CCTCTT | intron_variant | MODIFIER | HG00544.hp1 NA18957.hp2 NA18973.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0003a0001c0002t0009a0001c0005t0011others(1): Show | a0001c0001t0003g0080 a0001c0002t0009g0078 a0001c0005t0011g0081 others(1): Show |
4 | 250 | 0.0160 | 5 | c.-60 others(22): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
SCML4_chr6_107697154_107829313 | 107822508 | C | CTTTTT | intron_variant | MODIFIER | HG01884.hp2 HG02258.hp2 HG02451.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0001t0013a0001c0001t0014others(2): Show | a0001c0001t0001g0152 a0001c0001t0013g0124 a0001c0001t0013g0156 others(6): Show |
9 | 250 | 0.0360 | 5 | c.-60 others(22): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
SCN10A_chr3_38691807_38821217 | 38736963 | G | GTTTTT | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00597.hp2 others(37): Show |
a0001a0002a0006others(2): Show | a0001c0003a0002c0001a0002c0015others(5): Show | a0001c0003t0002a0002c0001t0001a0002c0001t0002others(6): Show | a0001c0003t0002g0311 a0002c0001t0001g0050 a0002c0001t0001g0056 others(37): Show |
40 | 372 | 0.1075 | 5 | c.228 others(24): Show |
SCN10A | ENSG00000185313.9 | transcript | ENST00000449082.3 | protein_coding | 15/27 | chr3 | TogoVar |