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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SASH1_chr6_148337838_148557044 | 148368768 | G | GTGCGCAC others(25): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01256.hp2 HG01258.hp1 others(11): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0152 a0001c0001t0001g0169 a0001c0001t0002g0142 others(11): Show |
14 | 254 | 0.0551 | 32 | c.157 others(51): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 1/19 | chr6 | TogoVar | |||||||
SASH1_chr6_148337838_148557044 | 148385002 | G | GGATGGCA others(25): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0053 | 1 | 320 | 0.0031 | 32 | c.157 others(49): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148387566 | C | CTCTTTCT others(25): Show |
intron_variant | MODIFIER | NA18943.hp2 NA18954.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0184 a0002c0002t0001g0040 |
2 | 120 | 0.0167 | 32 | c.157 others(49): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148449078 | C | CTTTTTCT others(25): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03516.hp1 |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0277 a0002c0002t0004g0278 |
2 | 119 | 0.0168 | 32 | c.386 others(49): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148449078 | C | CTTTTTTT others(25): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0245 | 1 | 118 | 0.0085 | 32 | c.386 others(49): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH3_chrX_129774949_129800201 | 129789105 | A | AAAAGAAA others(25): Show |
intron_variant | MODIFIER | HG02132.hp1 HG02280.hp1 HG02280.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008 others(5): Show |
9 | 217 | 0.0415 | 32 | c.300 others(47): Show |
SASH3 | ENSG00000122122.10 | transcript | ENST00000356892.4 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SASH3_chrX_129774949_129800201 | 129789109 | A | AAAAGAAA others(25): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 92 | 0.0109 | 32 | c.300 others(47): Show |
SASH3 | ENSG00000122122.10 | transcript | ENST00000356892.4 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SAT1_chrX_23778173_23791210 | 23780122 | C | CACACATA others(25): Show |
upstream_gene_variant | MODIFIER | HG02280.hp2 HG02451.hp2 HG02622.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0020 others(2): Show |
9 | 29 | 0.3103 | 32 | c.-32 others(43): Show |
SAT1 | ENSG00000130066.17 | transcript | ENST00000379270.5 | protein_coding | 3050 | chrX | TogoVar | |||||||
SATL1_chrX_85087284_85248779 | 85088169 | C | CATATATG others(25): Show |
downstream_gene_variant | MODIFIER | HG01074.hp1 HG01106.hp1 HG01258.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0115 others(21): Show |
24 | 208 | 0.1154 | 32 | c.*41 others(43): Show |
SATL1 | ENSG00000184788.14 | transcript | ENST00000644105.2 | protein_coding | 4114 | chrX | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 9835631 | C | CAAAAAAA others(25): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0188 | 1 | 33 | 0.0303 | 32 | c.345 others(51): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 26/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 9994577 | C | CATATATA others(25): Show |
intron_variant | MODIFIER | HG00423.hp1 HG02148.hp1 HG03139.hp1 others(5): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0034 a0001c0001t0002g0023 a0001c0001t0002g0185 others(5): Show |
8 | 146 | 0.0548 | 32 | c.976 others(47): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 9/39 | chr11 | TogoVar | |||||||
SBNO1_chr12_123284109_123369847 | 123297400 | C | CAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0008 | a0001c0008t0024 | a0001c0008t0024g0099 | 1 | 96 | 0.0104 | 32 | c.403 others(49): Show |
SBNO1 | ENSG00000139697.14 | transcript | ENST00000602398.3 | protein_coding | 31/31 | chr12 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1141023 | T | TGGAGAAG others(25): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02717.hp1 HG03486.hp1 |
a0001 | a0001c0006a0001c0015 | a0001c0006t0001a0001c0015t0001 | a0001c0006t0001g0109 a0001c0015t0001g0017 a0001c0015t0001g0108 |
3 | 171 | 0.0175 | 32 | c.279 others(49): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 4/31 | chr19 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1174017 | G | GGCGGGGG others(25): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0203 | 1 | 202 | 0.0050 | 32 | c.-12 others(49): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
SBSN_chr19_35518367_35533311 | 35520356 | C | CTATATAT others(25): Show |
downstream_gene_variant | MODIFIER | HG02027.hp1 HG02074.hp2 NA18612.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0008 | 3 | 369 | 0.0081 | 32 | c.*31 others(43): Show |
SBSN | ENSG00000189001.11 | transcript | ENST00000452271.7 | protein_coding | 3010 | chr19 | TogoVar | |||||||
SBSN_chr19_35518367_35533311 | 35520369 | T | TATATATA others(25): Show |
downstream_gene_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0008 | 1 | 426 | 0.0023 | 32 | c.*31 others(43): Show |
SBSN | ENSG00000189001.11 | transcript | ENST00000452271.7 | protein_coding | 2997 | chr19 | TogoVar | |||||||
SBSN_chr19_35518367_35533311 | 35520373 | T | TATATATA others(25): Show |
downstream_gene_variant | MODIFIER | HG03017.hp1 | a0014 | a0014c0032 | a0014c0032t0001 | a0014c0032t0001g0090 | 1 | 382 | 0.0026 | 32 | c.*31 others(43): Show |
SBSN | ENSG00000189001.11 | transcript | ENST00000452271.7 | protein_coding | 2993 | chr19 | TogoVar | |||||||
SBSN_chr19_35518367_35533311 | 35520388 | A | ATATATAT others(25): Show |
downstream_gene_variant | MODIFIER | NA18955.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0029 | 1 | 448 | 0.0022 | 32 | c.*31 others(43): Show |
SBSN | ENSG00000189001.11 | transcript | ENST00000452271.7 | protein_coding | 2978 | chr19 | TogoVar | |||||||
SCAF1_chr19_49637209_49663642 | 49659984 | T | TACACACA others(25): Show |
downstream_gene_variant | MODIFIER | HG01993.hp2 HG03831.hp2 NA20129.hp1 others(1): Show |
a0001a0002 | a0001c0002a0001c0004a0001c0029others(1): Show | a0001c0002t0002a0001c0004t0002a0001c0029t0002others(1): Show | a0001c0002t0002g0121 a0001c0004t0002g0006 a0001c0029t0002g0009 others(1): Show |
4 | 153 | 0.0261 | 32 | c.*15 others(43): Show |
SCAF1 | ENSG00000126461.15 | transcript | ENST00000360565.8 | protein_coding | 1343 | chr19 | TogoVar | |||||||
SCAI_chr9_124937608_125148528 | 125106122 | A | AAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG02071.hp2 NA18944.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0145 a0001c0001t0003g0168 |
2 | 50 | 0.0400 | 32 | c.98+ others(49): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 2/17 | chr9 | TogoVar | |||||||
SCAI_chr9_124937608_125148528 | 125106122 | A | AAAAAAAA others(25): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0167 | 1 | 49 | 0.0204 | 32 | c.98+ others(49): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 2/17 | chr9 | TogoVar | |||||||
SCAI_chr9_124937608_125148528 | 125106122 | A | AAAAAAAA others(25): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0287 | 1 | 49 | 0.0204 | 32 | c.98+ others(49): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 2/17 | chr9 | TogoVar | |||||||
SCAMP1_chr5_78355617_78485739 | 78460808 | C | CTTTCTTT others(25): Show |
intron_variant | MODIFIER | HG00609.hp2 NA19011.hp2 NA19084.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 a0001c0001t0001g0220 a0001c0001t0001g0226 |
3 | 253 | 0.0119 | 32 | c.852 others(49): Show |
SCAMP1 | ENSG00000085365.18 | transcript | ENST00000621999.5 | protein_coding | 8/8 | chr5 | TogoVar | |||||||
SCAMP1_chr5_78355617_78485739 | 78460812 | C | CTTTCTTT others(25): Show |
intron_variant | MODIFIER | HG02074.hp1 NA19070.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0037 | a0001c0001t0001g0219 a0001c0001t0037g0214 |
2 | 235 | 0.0085 | 32 | c.852 others(49): Show |
SCAMP1 | ENSG00000085365.18 | transcript | ENST00000621999.5 | protein_coding | 8/8 | chr5 | TogoVar | |||||||
SCAMP5_chr15_74990563_75026495 | 74990994 | C | CTCTTTCT others(25): Show |
upstream_gene_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 194 | 0.0052 | 32 | c.-47 others(43): Show |
SCAMP5 | ENSG00000198794.12 | transcript | ENST00000425597.8 | protein_coding | 4568 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76428866 | C | CTATATAT others(25): Show |
intron_variant | MODIFIER | HG00544.hp2 HG02040.hp2 HG02135.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0004t0001g0132 others(5): Show |
8 | 83 | 0.0964 | 32 | c.331 others(51): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 26/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76726124 | A | AATATATA others(25): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0171 | 1 | 45 | 0.0222 | 32 | c.216 others(51): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 17/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76873274 | A | AAAGGAAG others(25): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0002 | a0002c0011 | a0002c0011t0002 | a0002c0011t0002g0285 | 1 | 80 | 0.0125 | 32 | c.6+1 others(47): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 2/31 | chr15 | TogoVar | |||||||
SCAP_chr3_47408681_47480941 | 47473080 | C | CAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG00741.hp2 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0274 a0001c0001t0001g0275 |
2 | 28 | 0.0714 | 32 | c.-99 others(49): Show |
SCAP | ENSG00000114650.21 | transcript | ENST00000265565.10 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
SCART1_chr10_133448945_133474760 | 133472868 | A | AGTGTGGC others(25): Show |
downstream_gene_variant | MODIFIER | HG01069.hp2 HG01891.hp2 HG02280.hp1 others(5): Show |
a0004a0014 | a0004c0005a0004c0020a0004c0043others(1): Show | a0004c0005t0005a0004c0020t0005a0004c0043t0005others(1): Show | a0004c0005t0005g0164 a0004c0005t0005g0166 a0004c0020t0005g0030 others(3): Show |
8 | 432 | 0.0185 | 32 | c.*49 others(43): Show |
SCART1 | ENSG00000214279.13 | transcript | ENST00000640237.2 | protein_coding | 3109 | chr10 | TogoVar | |||||||
SCD5_chr4_82624539_82803796 | 82653676 | T | TGATAGAC others(25): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00673.hp2 HG02056.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(1): Show | a0001c0001t0001g0020 a0001c0001t0002g0035 a0001c0001t0002g0039 others(9): Show |
12 | 28 | 0.4286 | 32 | c.570 others(51): Show |
SCD5 | ENSG00000145284.12 | transcript | ENST00000319540.9 | protein_coding | 3/4 | chr4 | TogoVar | |||||||
SCD5_chr4_82624539_82803796 | 82664999 | C | CTCTCTCT others(25): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0016 | 1 | 42 | 0.0238 | 32 | c.569 others(51): Show |
SCD5 | ENSG00000145284.12 | transcript | ENST00000319540.9 | protein_coding | 3/4 | chr4 | TogoVar | |||||||
SCFD2_chr4_52867982_53371061 | 53044489 | A | ACTTCCTT others(25): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02486.hp2 HG02647.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0003 | a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 others(3): Show |
6 | 147 | 0.0408 | 32 | c.156 others(55): Show |
SCFD2 | ENSG00000184178.17 | transcript | ENST00000401642.8 | protein_coding | 5/8 | chr4 | TogoVar | |||||||
SCFD2_chr4_52867982_53371061 | 53140392 | A | AAAATATA others(25): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02155.hp1 NA18970.hp1 others(7): Show |
a0001a0005 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(4): Show | a0001c0001t0001g0022 a0001c0001t0001g0098 a0001c0001t0002g0095 others(7): Show |
10 | 18 | 0.5556 | 32 | c.156 others(51): Show |
SCFD2 | ENSG00000184178.17 | transcript | ENST00000401642.8 | protein_coding | 5/8 | chr4 | TogoVar | |||||||
SCG3_chr15_51676503_51726026 | 51704764 | C | CATATATA others(25): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01123.hp1 HG02145.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005 | a0001c0001t0001g0226 a0001c0001t0001g0279 a0001c0001t0003g0071 others(2): Show |
5 | 87 | 0.0575 | 32 | c.120 others(51): Show |
SCG3 | ENSG00000104112.9 | transcript | ENST00000220478.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SCG5_chr15_32636710_32702092 | 32657209 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG01975.hp2 HG02895.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008 | a0001c0001t0001g0084 a0001c0001t0003g0378 a0001c0001t0008g0189 |
3 | 50 | 0.0600 | 32 | c.226 others(51): Show |
SCG5 | ENSG00000166922.9 | transcript | ENST00000300175.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SCGB2B2_chr19_34585644_34682159 | 34608660 | C | CATATATA others(25): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01975.hp2 HG02273.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0030others(1): Show | a0001c0001t0002g0262 a0001c0001t0006g0156 a0001c0001t0030g0227 others(1): Show |
4 | 25 | 0.1600 | 32 | c.-20 others(55): Show |
SCGB2B2 | ENSG00000205209.8 | transcript | ENST00000601241.6 | protein_coding | 1/3 | chr19 | TogoVar | |||||||
SCGB2B2_chr19_34585644_34682159 | 34608684 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0341 | 1 | 355 | 0.0028 | 32 | c.-20 others(55): Show |
SCGB2B2 | ENSG00000205209.8 | transcript | ENST00000601241.6 | protein_coding | 1/3 | chr19 | TogoVar | |||||||
SCGB2B2_chr19_34585644_34682159 | 34669714 | T | TACACACA others(25): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02486.hp1 HG02630.hp2 others(5): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0005a0001c0001t0012a0001c0001t0015others(5): Show | a0001c0001t0005g0089 a0001c0001t0012g0202 a0001c0001t0015g0199 others(5): Show |
8 | 77 | 0.1039 | 32 | c.-20 others(53): Show |
SCGB2B2 | ENSG00000205209.8 | transcript | ENST00000601241.6 | protein_coding | 1/3 | chr19 | TogoVar | |||||||
SCHIP1_chr3_159268244_159902359 | 159550058 | C | CTTAATTA others(25): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01167.hp2 HG01169.hp2 others(18): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0002t0001a0003c0005t0001 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0009 others(18): Show |
21 | 64 | 0.3281 | 32 | c.64- others(51): Show |
SCHIP1 | ENSG00000283154.3 | transcript | ENST00000638749.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SCHIP1_chr3_159268244_159902359 | 159828367 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | NA18522.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 a0001c0001t0001g0049 |
2 | 100 | 0.0200 | 32 | c.760 others(51): Show |
SCHIP1 | ENSG00000283154.3 | transcript | ENST00000638749.2 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SCIN_chr7_12565720_12665182 | 12578909 | G | GTTTTTTT others(25): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0002 | a0002c0002 | a0002c0002t0114 | a0002c0002t0114g0289 | 1 | 166 | 0.0060 | 32 | c.354 others(47): Show |
SCIN | ENSG00000006747.15 | transcript | ENST00000297029.10 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SCIN_chr7_12565720_12665182 | 12578909 | G | GTTTTTTT others(25): Show |
intron_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0025 | 1 | 166 | 0.0060 | 32 | c.354 others(47): Show |
SCIN | ENSG00000006747.15 | transcript | ENST00000297029.10 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SCIN_chr7_12565720_12665182 | 12578909 | G | GTTTTTTT others(25): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0117 | a0001c0001t0117g0030 | 1 | 166 | 0.0060 | 32 | c.354 others(47): Show |
SCIN | ENSG00000006747.15 | transcript | ENST00000297029.10 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SCLT1_chr4_128878993_129098539 | 128975040 | C | CTTTTTTT others(25): Show |
intron_variant | MODIFIER | HG01981.hp2 HG02155.hp2 HG03486.hp2 others(2): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0001 | a0001c0002t0001g0106 a0001c0004t0001g0113 a0001c0004t0001g0114 others(2): Show |
5 | 82 | 0.0610 | 32 | c.687 others(49): Show |
SCLT1 | ENSG00000151466.12 | transcript | ENST00000281142.10 | protein_coding | 9/20 | chr4 | TogoVar | |||||||
SCML4_chr6_107697154_107829313 | 107778222 | A | AAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0126 | 1 | 174 | 0.0057 | 32 | c.-59 others(49): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
SCML4_chr6_107697154_107829313 | 107778222 | A | AAAAAAAA others(25): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0056 | 1 | 174 | 0.0057 | 32 | c.-59 others(49): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
SCN10A_chr3_38691807_38821217 | 38737798 | C | CTCTTTCT others(25): Show |
intron_variant | MODIFIER | HG02056.hp2 HG02135.hp2 HG02148.hp1 others(10): Show |
a0001a0002a0025 | a0001c0003a0001c0006a0001c0007others(3): Show | a0001c0003t0001a0001c0003t0002a0001c0006t0002others(4): Show | a0001c0003t0001g0016 a0001c0003t0001g0017 a0001c0003t0001g0028 others(10): Show |
13 | 139 | 0.0935 | 32 | c.228 others(51): Show |
SCN10A | ENSG00000185313.9 | transcript | ENST00000449082.3 | protein_coding | 15/27 | chr3 | TogoVar | |||||||
SCN10A_chr3_38691807_38821217 | 38746063 | G | GTGTATAT others(25): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00609.hp2 HG01168.hp1 others(11): Show |
a0002a0025a0032 | a0002c0001a0025c0038a0032c0042 | a0002c0001t0001a0002c0001t0002a0025c0038t0001others(1): Show | a0002c0001t0001g0065 a0002c0001t0001g0126 a0002c0001t0001g0128 others(11): Show |
14 | 188 | 0.0745 | 32 | c.186 others(51): Show |
SCN10A | ENSG00000185313.9 | transcript | ENST00000449082.3 | protein_coding | 13/27 | chr3 | TogoVar | |||||||
SCN11A_chr3_38840764_39056944 | 38995799 | G | GTCTATCT others(25): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 HG03516.hp2 others(1): Show |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0249 a0001c0005t0001g0252 a0001c0005t0001g0253 others(1): Show |
4 | 277 | 0.0144 | 32 | c.-27 others(53): Show |
SCN11A | ENSG00000168356.13 | transcript | ENST00000302328.9 | protein_coding | 2/29 | chr3 | TogoVar |