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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SART1_chr11_65956734_65985137 | 65977955 | AGGGCCAT others(10): Show |
A | intron_variant | MODIFIER | HG00140.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0078 | 1 | 382 | 0.0026 | -17 | c.217 others(32): Show |
SART1 | ENSG00000175467.15 | transcript | ENST00000312397.10 | protein_coding | 17/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148411166 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | NA19056.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0020 | 1 | 43 | 0.0233 | -17 | c.285 others(36): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148446088 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG01255.hp2 HG02027.hp1 HG02080.hp2 others(6): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0004others(4): Show | a0001c0001t0002a0001c0001t0020a0002c0002t0001others(6): Show | a0001c0001t0002g0026 a0001c0001t0020g0170 a0002c0002t0001g0121 others(6): Show |
9 | 70 | 0.1286 | -17 | c.386 others(34): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SAT1_chrX_23778173_23791210 | 23781874 | CAAAAAAA others(10): Show |
C | upstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 26 | 0.0385 | -17 | c.-14 others(28): Show |
SAT1 | ENSG00000130066.17 | transcript | ENST00000379270.5 | protein_coding | 1298 | chrX | TogoVar | |||||||
SATL1_chrX_85087284_85248779 | 85134168 | TGTGTGTG others(10): Show |
T | intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 230 | 0.0043 | -17 | c.-31 others(38): Show |
SATL1 | ENSG00000184788.14 | transcript | ENST00000644105.2 | protein_coding | 2/7 | chrX | TogoVar | |||||||
SATL1_chrX_85087284_85248779 | 85220644 | TAAAAAAA others(10): Show |
T | intron_variant | MODIFIER | NA18981.hp2 | a0008 | a0008c0008 | a0008c0008t0001 | a0008c0008t0001g0059 | 1 | 20 | 0.0500 | -17 | c.-31 others(36): Show |
SATL1 | ENSG00000184788.14 | transcript | ENST00000644105.2 | protein_coding | 2/7 | chrX | TogoVar | |||||||
SBF1_chr22_50440000_50480035 | 50459055 | CTGGTCTG others(10): Show |
C | intron_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0132 | 1 | 400 | 0.0025 | -17 | c.382 others(34): Show |
SBF1 | ENSG00000100241.22 | transcript | ENST00000380817.8 | protein_coding | 28/40 | chr22 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 9947021 | GAATTAGT others(10): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00558.hp2 others(67): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0076 others(67): Show |
70 | 222 | 0.3153 | -17 | c.186 others(38): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 16/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 9974972 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG01346.hp2 HG01943.hp2 others(10): Show |
a0001a0007 | a0001c0001a0001c0005a0001c0019others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0018others(4): Show | a0001c0001t0002g0096 a0001c0001t0002g0196 a0001c0001t0002g0200 others(10): Show |
13 | 222 | 0.0586 | -17 | c.139 others(36): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 13/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 10254900 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG00733.hp2 HG02145.hp2 |
a0001 | a0001c0001a0001c0020 | a0001c0001t0001a0001c0020t0005 | a0001c0001t0001g0184 a0001c0020t0005g0152 |
2 | 5 | 0.4000 | -17 | c.55+ others(34): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 1/39 | chr11 | TogoVar | |||||||
SBK1_chr16_28287525_28328849 | 28321176 | CCACACAA others(10): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0168 | 1 | 382 | 0.0026 | -17 | c.*26 others(26): Show |
SBK1 | ENSG00000188322.8 | transcript | ENST00000341901.5 | protein_coding | 4/4 | 262 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SBK2_chr19_55523611_55542133 | 55533659 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00558.hp2 others(118): Show |
a0001a0003a0004 | a0001c0001a0001c0004a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0001 a0001c0001t0001g0027 a0001c0001t0001g0030 others(43): Show |
121 | 124 | 0.9758 | -17 | c.254 others(34): Show |
SBK2 | ENSG00000187550.9 | transcript | ENST00000413299.6 | protein_coding | 2/3 | chr19 | TogoVar | |||||||
SBSN_chr19_35518367_35533311 | 35522479 | CAAAAAAA others(10): Show |
C | downstream_gene_variant | MODIFIER | HG00738.hp1 HG01891.hp2 HG02523.hp2 others(20): Show |
a0001a0002a0007others(1): Show | a0001c0002a0001c0003a0001c0008others(5): Show | a0001c0002t0001a0001c0003t0001a0001c0008t0001others(5): Show | a0001c0002t0001g0044 a0001c0003t0001g0014 a0001c0003t0001g0017 others(9): Show |
23 | 114 | 0.2018 | -17 | c.*10 others(28): Show |
SBSN | ENSG00000189001.11 | transcript | ENST00000452271.7 | protein_coding | 887 | chr19 | TogoVar | |||||||
SC5D_chr11_121287771_121318410 | 121314315 | ATTTTTTT others(10): Show |
A | downstream_gene_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0006 | 1 | 55 | 0.0182 | -17 | c.*68 others(28): Show |
SC5D | ENSG00000109929.10 | transcript | ENST00000264027.9 | protein_coding | 906 | chr11 | TogoVar | |||||||
SCAF4_chr21_31666000_31737118 | 31713112 | TTACTTGT others(10): Show |
T | intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0138 | 1 | 350 | 0.0029 | -17 | c.31- others(32): Show |
SCAF4 | ENSG00000156304.15 | transcript | ENST00000286835.12 | protein_coding | 1/19 | chr21 | TogoVar | |||||||
SCAF4_chr21_31666000_31737118 | 31735263 | GAAAAAAA others(10): Show |
G | upstream_gene_variant | MODIFIER | HG01192.hp2 HG02135.hp2 HG02165.hp2 others(10): Show |
a0001a0004a0005 | a0001c0001a0004c0016a0005c0015 | a0001c0001t0001a0004c0016t0001a0005c0015t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0027 others(10): Show |
13 | 27 | 0.4815 | -17 | c.-35 others(28): Show |
SCAF4 | ENSG00000156304.15 | transcript | ENST00000286835.12 | protein_coding | 3146 | chr21 | TogoVar | |||||||
SCAF8_chr6_154728416_154839221 | 154790489 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG01516.hp1 HG01517.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 a0001c0001t0001g0097 a0001c0001t0001g0119 others(3): Show |
6 | 18 | 0.3333 | -17 | c.322 others(34): Show |
SCAF8 | ENSG00000213079.10 | transcript | ENST00000367178.8 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SCAF8_chr6_154728416_154839221 | 154794785 | GTGTGTGT others(10): Show |
G | intron_variant | MODIFIER | HG02886.hp1 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0256 | 1 | 277 | 0.0036 | -17 | c.476 others(32): Show |
SCAF8 | ENSG00000213079.10 | transcript | ENST00000367178.8 | protein_coding | 5/19 | chr6 | TogoVar | |||||||
SCAF8_chr6_154728416_154839221 | 154831703 | TAAAAAAA others(10): Show |
T | intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0028 | 1 | 24 | 0.0417 | -17 | c.236 others(34): Show |
SCAF8 | ENSG00000213079.10 | transcript | ENST00000367178.8 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SCAI_chr9_124937608_125148528 | 125004760 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0053 | a0001c0001t0053g0058 | 1 | 297 | 0.0034 | -17 | c.862 others(34): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 9/17 | chr9 | TogoVar | |||||||
SCAI_chr9_124937608_125148528 | 125004762 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0102 | 1 | 297 | 0.0034 | -17 | c.862 others(34): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 9/17 | chr9 | TogoVar | |||||||
SCAI_chr9_124937608_125148528 | 125106117 | AAAAAAAT others(10): Show |
A | intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0058 | a0001c0001t0058g0108 | 1 | 302 | 0.0033 | -17 | c.98+ others(34): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 2/17 | chr9 | TogoVar | |||||||
SCAMP1_chr5_78355617_78485739 | 78469919 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | NA18961.hp2 NA19001.hp1 NA19067.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 a0001c0001t0001g0185 a0001c0001t0001g0192 others(2): Show |
5 | 331 | 0.0151 | -17 | c.853 others(34): Show |
SCAMP1 | ENSG00000085365.18 | transcript | ENST00000621999.5 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SCAMP2_chr15_74838730_74878365 | 74874652 | AAAAAAAA others(10): Show |
A | upstream_gene_variant | MODIFIER | NA18952.hp2 NA18989.hp1 NA19079.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0009a0002c0002t0007a0002c0002t0021 | a0001c0001t0009g0032 a0002c0002t0007g0034 a0002c0002t0007g0040 others(1): Show |
4 | 370 | 0.0108 | -17 | c.-14 others(28): Show |
SCAMP2 | ENSG00000140497.16 | transcript | ENST00000268099.13 | protein_coding | 1288 | chr15 | TogoVar | |||||||
SCAMP3_chr1_155250981_155267360 | 155252710 | ATATATAT others(10): Show |
A | downstream_gene_variant | MODIFIER | HG00558.hp2 HG02132.hp2 NA18971.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0028 |
5 | 374 | 0.0134 | -17 | c.*35 others(28): Show |
SCAMP3 | ENSG00000116521.11 | transcript | ENST00000302631.8 | protein_coding | 3270 | chr1 | TogoVar | |||||||
SCAMP3_chr1_155250981_155267360 | 155252712 | ATATATAT others(10): Show |
A | downstream_gene_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 370 | 0.0027 | -17 | c.*35 others(28): Show |
SCAMP3 | ENSG00000116521.11 | transcript | ENST00000302631.8 | protein_coding | 3268 | chr1 | TogoVar | |||||||
SCAMP4_chr19_1900399_1931013 | 1900971 | TCCACCCG others(10): Show |
T | upstream_gene_variant | MODIFIER | HG03225.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 a0001c0001t0001g0192 |
2 | 440 | 0.0045 | -17 | c.-45 others(28): Show |
SCAMP4 | ENSG00000227500.11 | transcript | ENST00000316097.13 | protein_coding | 4427 | chr19 | TogoVar | |||||||
SCAMP5_chr15_74990563_75026495 | 74990996 | CTTTCTTT others(10): Show |
C | upstream_gene_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 295 | 0.0034 | -17 | c.-47 others(28): Show |
SCAMP5 | ENSG00000198794.12 | transcript | ENST00000425597.8 | protein_coding | 4566 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76440907 | GTTTTTTT others(10): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02559.hp2 HG02970.hp2 |
a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0174 a0004c0008t0001g0175 a0004c0008t0001g0176 |
3 | 237 | 0.0127 | -17 | c.307 others(36): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 25/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76535646 | ATACAGGT others(10): Show |
A | intron_variant | MODIFIER | HG01516.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0222 | 1 | 310 | 0.0032 | -17 | c.283 others(38): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 23/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76667625 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG01106.hp2 HG01255.hp1 HG01433.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0003a0003c0006t0001 | a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0146 others(3): Show |
6 | 43 | 0.1395 | -17 | c.250 others(36): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 20/31 | chr15 | TogoVar | |||||||
SCARA5_chr8_27864883_27997673 | 27865594 | TATATATA others(10): Show |
T | downstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0030 | 1 | 312 | 0.0032 | -17 | c.*63 others(28): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4288 | chr8 | TogoVar | |||||||
SCARA5_chr8_27864883_27997673 | 27918685 | GGAAAAGG others(10): Show |
G | intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0273 | 1 | 312 | 0.0032 | -17 | c.916 others(34): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | |||||||
SCARA5_chr8_27864883_27997673 | 27950187 | TGCATGCC others(10): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(285): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0003others(29): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(126): Show | a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0159 others(285): Show |
288 | 312 | 0.9231 | -17 | c.241 others(36): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
SCARF2_chr22_20419584_20442825 | 20428362 | ACTGCAAC others(10): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00544.hp1 others(82): Show |
a0001a0011a0013 | a0001c0001a0011c0011a0013c0015 | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(3): Show | a0001c0001t0003g0001 a0001c0001t0003g0010 a0001c0001t0003g0015 others(14): Show |
85 | 400 | 0.2125 | -17 | c.154 others(34): Show |
SCARF2 | ENSG00000244486.9 | transcript | ENST00000622235.5 | protein_coding | 9/10 | chr22 | TogoVar | |||||||
SCART1_chr10_133448945_133474760 | 133464295 | CTGCAGTG others(10): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(227): Show |
a0001a0002a0004others(20): Show | a0001c0001a0001c0006a0001c0011others(28): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(33): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(87): Show |
230 | 431 | 0.5336 | -17 | c.197 others(34): Show |
SCART1 | ENSG00000214279.13 | transcript | ENST00000640237.2 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SCD5_chr4_82624539_82803796 | 82700787 | TAAAAAAA others(10): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG01069.hp1 HG01081.hp1 others(53): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(15): Show | a0001c0001t0001g0011 a0001c0001t0001g0024 a0001c0001t0001g0026 others(53): Show |
56 | 57 | 0.9825 | -17 | c.363 others(34): Show |
SCD5 | ENSG00000145284.12 | transcript | ENST00000319540.9 | protein_coding | 2/4 | chr4 | TogoVar | |||||||
SCFD1_chr14_30617319_30740850 | 30703946 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | NA18982.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0312 | 1 | 321 | 0.0031 | -17 | c.149 others(36): Show |
SCFD1 | ENSG00000092108.22 | transcript | ENST00000458591.7 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SCFD2_chr4_52867982_53371061 | 53236831 | TATTTATT others(10): Show |
T | intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0091 | 1 | 162 | 0.0062 | -17 | c.131 others(38): Show |
SCFD2 | ENSG00000184178.17 | transcript | ENST00000401642.8 | protein_coding | 4/8 | chr4 | TogoVar | |||||||
SCGB2A1_chr11_62203673_62218943 | 62215278 | CAAAATAA others(10): Show |
C | downstream_gene_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 440 | 0.0023 | -17 | c.*15 others(28): Show |
SCGB2A1 | ENSG00000124939.6 | transcript | ENST00000244930.6 | protein_coding | 1336 | chr11 | TogoVar | |||||||
SCHIP1_chr3_159268244_159902359 | 159732390 | GTGTCTGA others(10): Show |
G | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0058 | 1 | 100 | 0.0100 | -17 | c.64- others(34): Show |
SCHIP1 | ENSG00000283154.3 | transcript | ENST00000638749.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SCIN_chr7_12565720_12665182 | 12657556 | ATATATAT others(10): Show |
A | 3_prime_UTR_variant | MODIFIER | NA19030.hp1 | a0002 | a0002c0003 | a0002c0003t0146 | a0002c0003t0146g0062 | 1 | 366 | 0.0027 | -17 | c.*48 others(28): Show |
SCIN | ENSG00000006747.15 | transcript | ENST00000297029.10 | protein_coding | 16/16 | 4843 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SCIN_chr7_12565720_12665182 | 12657562 | ATATATAT others(10): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01516.hp1 HG01517.hp2 HG02622.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0003a0001c0001t0017a0002c0002t0077others(1): Show | a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0217 others(3): Show |
6 | 351 | 0.0171 | -17 | c.*48 others(28): Show |
SCIN | ENSG00000006747.15 | transcript | ENST00000297029.10 | protein_coding | 16/16 | 4849 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SCIN_chr7_12565720_12665182 | 12657564 | ATATATAT others(10): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01433.hp2 HG01884.hp1 HG03471.hp1 others(8): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0022a0001c0001t0043a0002c0002t0015others(4): Show | a0001c0001t0022g0174 a0001c0001t0022g0175 a0001c0001t0043g0227 others(8): Show |
11 | 345 | 0.0319 | -17 | c.*48 others(28): Show |
SCIN | ENSG00000006747.15 | transcript | ENST00000297029.10 | protein_coding | 16/16 | 4851 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SCLT1_chr4_128878993_129098539 | 129053557 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | HG02886.hp2 HG02970.hp1 HG03130.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0007 | a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0274 others(3): Show |
6 | 13 | 0.4615 | -17 | c.103 others(34): Show |
SCLT1 | ENSG00000151466.12 | transcript | ENST00000281142.10 | protein_coding | 2/20 | chr4 | TogoVar | |||||||
SCMH1_chr1_41022202_41247306 | 41139846 | TTTTCAGA others(10): Show |
T | intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0164 | 1 | 302 | 0.0033 | -17 | c.412 others(34): Show |
SCMH1 | ENSG00000010803.17 | transcript | ENST00000695335.1 | protein_coding | 6/15 | chr1 | TogoVar | |||||||
SCML2_chrX_18234313_18359688 | 18347723 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 | 1 | 80 | 0.0125 | -17 | c.-25 others(34): Show |
SCML2 | ENSG00000102098.19 | transcript | ENST00000251900.9 | protein_coding | 1/14 | chrX | TogoVar | |||||||
SCML4_chr6_107697154_107829313 | 107778221 | AAATATAT others(10): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG02630.hp2 HG02818.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0013a0001c0002t0001 | a0001c0001t0001g0077 a0001c0001t0013g0157 a0001c0002t0001g0165 |
3 | 248 | 0.0121 | -17 | c.-59 others(34): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
SCML4_chr6_107697154_107829313 | 107778223 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG02922.hp1 HG03516.hp2 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0014a0001c0001t0022 | a0001c0001t0004g0078 a0001c0001t0014g0012 a0001c0001t0022g0014 |
3 | 236 | 0.0127 | -17 | c.-59 others(34): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
SCN10A_chr3_38691807_38821217 | 38719367 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0253 | 1 | 3 | 0.3333 | -17 | c.350 others(34): Show |
SCN10A | ENSG00000185313.9 | transcript | ENST00000449082.3 | protein_coding | 20/27 | chr3 | TogoVar |