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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SDHAF4_chr6_70561930_70594569 | 70565183 | C | CTTTTTTT others(13): Show |
upstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255 | 1 | 370 | 0.0027 | 20 | c.-17 others(31): Show |
SDHAF4 | ENSG00000154079.6 | transcript | ENST00000370474.4 | protein_coding | 1746 | chr6 | TogoVar | |||||||
SDHAF4_chr6_70561930_70594569 | 70587168 | T | TCACACAC others(13): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01074.hp1 HG01516.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0002a0002c0002t0004a0002c0002t0010others(4): Show | a0001c0001t0002g0038 a0002c0002t0004g0023 a0002c0002t0004g0043 others(7): Show |
12 | 370 | 0.0324 | 20 | c.218 others(37): Show |
SDHAF4 | ENSG00000154079.6 | transcript | ENST00000370474.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SDHAF4_chr6_70561930_70594569 | 70588842 | A | AATATATA others(13): Show |
3_prime_UTR_variant | MODIFIER | HG00609.hp1 HG00621.hp2 HG00733.hp1 others(34): Show |
a0002 | a0002c0002a0002c0003a0002c0004 | a0002c0002t0003a0002c0003t0013a0002c0004t0009 | a0002c0002t0003g0005 a0002c0002t0003g0006 a0002c0002t0003g0015 others(27): Show |
37 | 370 | 0.1000 | 20 | c.*13 others(29): Show |
SDHAF4 | ENSG00000154079.6 | transcript | ENST00000370474.4 | protein_coding | 3/3 | 133 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SDHC_chr1_161309381_161368206 | 161339662 | G | GTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01361.hp2 HG02074.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 a0001c0001t0001g0102 a0001c0001t0001g0136 others(2): Show |
5 | 330 | 0.0152 | 20 | c.180 others(35): Show |
SDHC | ENSG00000143252.16 | transcript | ENST00000367975.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3319878 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02976.hp2 NA18522.hp2 |
a0001a0005a0031 | a0001c0014a0005c0065a0031c0069 | a0001c0014t0018a0005c0065t0037a0031c0069t0069 | a0001c0014t0018g0062 a0005c0065t0037g0065 a0031c0069t0069g0064 |
3 | 116 | 0.0259 | 20 | c.298 others(39): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3321778 | C | CTCCTTCC others(13): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02647.hp2 |
a0018a0021 | a0018c0024a0021c0068 | a0018c0024t0061a0021c0068t0014 | a0018c0024t0061g0013 a0021c0068t0014g0014 |
2 | 116 | 0.0172 | 20 | c.298 others(39): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3418145 | G | GCAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0092 | a0001c0092t0048 | a0001c0092t0048g0057 | 1 | 116 | 0.0086 | 20 | c.298 others(41): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | chr7 | TogoVar | |||||||
SDK1_chr7_3296252_4274000 | 3427827 | T | TTGTCTCT others(13): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0092 | a0001c0092t0048 | a0001c0092t0048g0057 | 1 | 116 | 0.0086 | 20 | c.298 others(41): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3435321 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0011 | a0011c0022 | a0011c0022t0072 | a0011c0022t0072g0007 | 1 | 116 | 0.0086 | 20 | c.298 others(41): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3454423 | T | TGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0015 | a0015c0074 | a0015c0074t0042 | a0015c0074t0042g0081 | 1 | 116 | 0.0086 | 20 | c.298 others(41): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3485683 | G | GTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02622.hp2 HG02717.hp2 |
a0001a0005 | a0001c0014a0001c0095a0005c0055 | a0001c0014t0018a0001c0095t0029a0005c0055t0055 | a0001c0014t0018g0060 a0001c0095t0029g0050 a0005c0055t0055g0021 |
3 | 116 | 0.0259 | 20 | c.299 others(41): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3504180 | A | ATGTGTGT others(13): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0102 | 1 | 116 | 0.0086 | 20 | c.299 others(41): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3504182 | A | ATGTGTGT others(13): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01123.hp2 HG02451.hp1 others(3): Show |
a0001a0002a0006others(2): Show | a0001c0004a0001c0010a0002c0029others(3): Show | a0001c0004t0001a0001c0010t0002a0002c0029t0005others(3): Show | a0001c0004t0001g0039 a0001c0010t0002g0085 a0002c0029t0005g0094 others(3): Show |
6 | 116 | 0.0517 | 20 | c.299 others(41): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3582683 | T | TAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0022 | a0022c0094 | a0022c0094t0025 | a0022c0094t0025g0049 | 1 | 116 | 0.0086 | 20 | c.299 others(39): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3655489 | A | ATATGTAT others(13): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0027 | a0027c0089 | a0027c0089t0047 | a0027c0089t0047g0056 | 1 | 116 | 0.0086 | 20 | c.713 others(39): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 4/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3672757 | T | TTATATAT others(13): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01934.hp2 HG02809.hp1 others(5): Show |
a0001a0002a0005others(2): Show | a0001c0008a0001c0032a0002c0030others(5): Show | a0001c0008t0007a0001c0032t0058a0002c0030t0034others(5): Show | a0001c0008t0007g0067 a0001c0032t0058g0043 a0002c0030t0034g0083 others(5): Show |
8 | 116 | 0.0690 | 20 | c.713 others(39): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 4/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3672759 | T | TTATATAT others(13): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0059 | a0001c0059t0027 | a0001c0059t0027g0090 | 1 | 116 | 0.0086 | 20 | c.713 others(39): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 4/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3687056 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02615.hp2 HG02622.hp1 others(4): Show |
a0001a0002a0014others(2): Show | a0001c0010a0001c0067a0001c0087others(4): Show | a0001c0010t0060a0001c0067t0068a0001c0087t0009others(4): Show | a0001c0010t0060g0017 a0001c0067t0068g0001 a0001c0087t0009g0054 others(4): Show |
7 | 116 | 0.0603 | 20 | c.713 others(39): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 4/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3806279 | C | CTAGGATG others(13): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01081.hp1 HG01243.hp2 others(7): Show |
a0001a0002a0003others(5): Show | a0001c0005a0001c0040a0002c0013others(7): Show | a0001c0005t0001a0001c0040t0001a0002c0013t0015others(7): Show | a0001c0005t0001g0023 a0001c0040t0001g0040 a0002c0013t0015g0025 others(7): Show |
10 | 116 | 0.0862 | 20 | c.714 others(39): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 4/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3938645 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02559.hp2 HG03225.hp2 NA19030.hp2 |
a0001a0033 | a0001c0025a0001c0027a0033c0051 | a0001c0025t0024a0001c0027t0020a0033c0051t0062 | a0001c0025t0024g0088 a0001c0027t0020g0087 a0033c0051t0062g0019 |
3 | 116 | 0.0259 | 20 | c.848 others(39): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 5/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4068714 | T | TTTTATTT others(13): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02559.hp1 HG02559.hp2 others(9): Show |
a0001a0012a0035 | a0001c0002a0001c0010a0001c0026others(8): Show | a0001c0002t0040a0001c0010t0060a0001c0026t0002others(8): Show | a0001c0002t0040g0084 a0001c0010t0060g0017 a0001c0026t0002g0086 others(9): Show |
12 | 116 | 0.1035 | 20 | c.301 others(37): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 20/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4074856 | T | TACTTTCT others(13): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01243.hp1 HG03098.hp2 others(2): Show |
a0001a0002a0006others(2): Show | a0001c0046a0002c0043a0006c0016others(2): Show | a0001c0046t0022a0002c0043t0035a0006c0016t0001others(2): Show | a0001c0046t0022g0091 a0002c0043t0035g0079 a0006c0016t0001g0114 others(2): Show |
5 | 116 | 0.0431 | 20 | c.301 others(39): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 20/44 | chr7 | TogoVar | |||||||
SDK1_chr7_3296252_4274000 | 4074884 | C | CTCTCTCT others(13): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0014 | a0014c0085 | a0014c0085t0043 | a0014c0085t0043g0010 | 1 | 116 | 0.0086 | 20 | c.301 others(39): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 20/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4074884 | C | CTCTCTCT others(13): Show |
intron_variant | MODIFIER | HG03209.hp2 NA20129.hp2 |
a0001a0035 | a0001c0048a0035c0073 | a0001c0048t0001a0035c0073t0001 | a0001c0048t0001g0029 a0035c0073t0001g0015 |
2 | 116 | 0.0172 | 20 | c.301 others(39): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 20/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4083546 | C | CTCCCTCC others(13): Show |
intron_variant | MODIFIER | HG00735.hp1 HG03041.hp2 NA18522.hp1 others(1): Show |
a0001a0005a0031 | a0001c0049a0001c0061a0005c0055others(1): Show | a0001c0049t0036a0001c0061t0031a0005c0055t0055others(1): Show | a0001c0049t0036g0109 a0001c0061t0031g0100 a0005c0055t0055g0021 others(1): Show |
4 | 116 | 0.0345 | 20 | c.332 others(39): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 22/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4130354 | A | AGAGGCAG others(13): Show |
intron_variant | MODIFIER | HG03471.hp2 NA20300.hp2 |
a0001a0004 | a0001c0072a0004c0080 | a0001c0072t0065a0004c0080t0014 | a0001c0072t0065g0027 a0004c0080t0014g0078 |
2 | 116 | 0.0172 | 20 | c.412 others(37): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 27/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4139565 | G | GTGTGTAT others(13): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0071 | a0001c0071t0057 | a0001c0071t0057g0031 | 1 | 116 | 0.0086 | 20 | c.422 others(39): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 28/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4157479 | A | AAGGAAGG others(13): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01243.hp1 HG02976.hp1 others(1): Show |
a0001a0009a0015 | a0001c0071a0001c0072a0009c0019others(1): Show | a0001c0071t0057a0001c0072t0065a0009c0019t0074others(1): Show | a0001c0071t0057g0031 a0001c0072t0065g0027 a0009c0019t0074g0009 others(1): Show |
4 | 116 | 0.0345 | 20 | c.462 others(37): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 30/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4187953 | G | GGGAGGCC others(13): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01175.hp1 HG01243.hp2 others(8): Show |
a0001a0003a0007others(4): Show | a0001c0004a0001c0005a0001c0064others(8): Show | a0001c0004t0001a0001c0005t0051a0001c0064t0006others(8): Show | a0001c0004t0001g0039 a0001c0005t0051g0030 a0001c0064t0006g0111 others(8): Show |
11 | 116 | 0.0948 | 20 | c.509 others(39): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 35/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4230039 | A | AGAAGGAA others(13): Show |
intron_variant | MODIFIER | HG01516.hp1 NA18522.hp2 |
a0001a0031 | a0001c0008a0031c0069 | a0001c0008t0004a0031c0069t0069 | a0001c0008t0004g0096 a0031c0069t0069g0064 |
2 | 116 | 0.0172 | 20 | c.582 others(39): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 40/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK2_chr17_73329384_73649445 | 73355174 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0005 | a0005c0012 | a0005c0012t0081 | a0005c0012t0081g0178 | 1 | 204 | 0.0049 | 20 | c.559 others(39): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 40/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73355174 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01192.hp2 HG02165.hp2 others(7): Show |
a0001a0003a0004 | a0001c0005a0001c0006a0001c0008others(7): Show | a0001c0005t0078a0001c0006t0020a0001c0008t0005others(7): Show | a0001c0005t0078g0100 a0001c0006t0020g0202 a0001c0008t0005g0134 others(7): Show |
10 | 204 | 0.0490 | 20 | c.559 others(39): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 40/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73355174 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0016 | a0016c0057 | a0016c0057t0003 | a0016c0057t0003g0171 | 1 | 204 | 0.0049 | 20 | c.559 others(39): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 40/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73426208 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01167.hp2 HG01192.hp2 others(4): Show |
a0001a0003a0022 | a0001c0001a0001c0008a0001c0016others(3): Show | a0001c0001t0032a0001c0008t0005a0001c0016t0026others(4): Show | a0001c0001t0032g0001 a0001c0008t0005g0134 a0001c0016t0026g0126 others(4): Show |
7 | 204 | 0.0343 | 20 | c.158 others(39): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 12/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73438631 | A | AAGACAGA others(13): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02976.hp2 |
a0001a0019 | a0001c0043a0019c0092 | a0001c0043t0033a0019c0092t0007 | a0001c0043t0033g0003 a0019c0092t0007g0114 |
2 | 204 | 0.0098 | 20 | c.726 others(35): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 6/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73495619 | C | CGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0008 | a0001c0008t0005 | a0001c0008t0005g0134 | 1 | 204 | 0.0049 | 20 | c.224 others(39): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 2/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73509902 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00621.hp2 HG00738.hp1 others(1): Show |
a0001a0002 | a0001c0005a0001c0013a0001c0071others(1): Show | a0001c0005t0048a0001c0013t0100a0001c0071t0071others(1): Show | a0001c0005t0048g0145 a0001c0013t0100g0010 a0001c0071t0071g0092 others(1): Show |
4 | 204 | 0.0196 | 20 | c.65- others(35): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 1/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73545099 | G | GCACACAC others(13): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG01261.hp2 others(6): Show |
a0001a0003a0004others(4): Show | a0001c0007a0001c0014a0001c0041others(6): Show | a0001c0007t0003a0001c0014t0092a0001c0041t0099others(6): Show | a0001c0007t0003g0014 a0001c0014t0092g0082 a0001c0041t0099g0125 others(6): Show |
9 | 204 | 0.0441 | 20 | c.65- others(37): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 1/44 | chr17 | TogoVar | |||||||
SDR42E2_chr16_22157506_22196751 | 22173903 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00735.hp2 HG00741.hp2 others(26): Show |
a0001a0003 | a0001c0001a0003c0003a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0030 others(16): Show |
29 | 356 | 0.0815 | 20 | c.589 others(37): Show |
SDR42E2 | ENSG00000183921.8 | transcript | ENST00000602312.3 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SDS_chr12_113387445_113408887 | 113396544 | C | CCCTTCCT others(13): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02257.hp2 HG02300.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0009 | a0001c0001t0001g0032 a0001c0001t0001g0069 a0001c0001t0001g0080 others(4): Show |
8 | 344 | 0.0233 | 20 | c.653 others(35): Show |
SDS | ENSG00000135094.11 | transcript | ENST00000257549.9 | protein_coding | 6/7 | chr12 | TogoVar | |||||||
SDS_chr12_113387445_113408887 | 113406088 | G | GGTGTGTG others(13): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 344 | 0.0029 | 20 | c.-23 others(31): Show |
SDS | ENSG00000135094.11 | transcript | ENST00000257549.9 | protein_coding | 2202 | chr12 | TogoVar | |||||||
SDS_chr12_113387445_113408887 | 113406089 | A | ATGTGTGT others(13): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 HG02572.hp2 HG02717.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(1): Show | a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0003g0078 others(4): Show |
7 | 344 | 0.0204 | 20 | c.-23 others(31): Show |
SDS | ENSG00000135094.11 | transcript | ENST00000257549.9 | protein_coding | 2203 | chr12 | TogoVar | |||||||
SEC14L3_chr22_30454229_30477017 | 30467247 | A | ACATCCAT others(13): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03195.hp2 HG03579.hp1 |
a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0019 | 3 | 454 | 0.0066 | 20 | c.424 others(35): Show |
SEC14L3 | ENSG00000100012.12 | transcript | ENST00000215812.9 | protein_coding | 5/11 | chr22 | TogoVar | |||||||
SEC14L4_chr22_30483902_30510695 | 30501846 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG02080.hp2 HG02135.hp2 NA18966.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0003 | a0001c0001t0001g0151 a0001c0003t0003g0033 |
3 | 424 | 0.0071 | 20 | c.130 others(37): Show |
SEC14L4 | ENSG00000133488.15 | transcript | ENST00000255858.12 | protein_coding | 2/11 | chr22 | TogoVar | |||||||
SEC14L6_chr22_30517799_30551741 | 30528422 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02723.hp2 |
a0001 | a0001c0007 | a0001c0007t0012 | a0001c0007t0012g0048 | 2 | 396 | 0.0051 | 20 | c.664 others(35): Show |
SEC14L6 | ENSG00000214491.9 | transcript | ENST00000402034.7 | protein_coding | 8/11 | chr22 | TogoVar | |||||||
SEC16B_chr1_177923788_177975058 | 177965400 | G | GGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02559.hp1 HG02895.hp1 others(3): Show |
a0001a0003a0005others(1): Show | a0001c0052a0003c0008a0005c0011others(1): Show | a0001c0052t0012a0003c0008t0003a0005c0011t0002others(1): Show | a0001c0052t0012g0052 a0003c0008t0003g0240 a0003c0008t0003g0241 others(3): Show |
6 | 408 | 0.0147 | 20 | c.413 others(35): Show |
SEC16B | ENSG00000120341.19 | transcript | ENST00000308284.11 | protein_coding | 3/25 | chr1 | TogoVar | |||||||
SEC22A_chr3_123196943_123279136 | 123220867 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(12): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0005a0001c0005t0009 | a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0085 others(12): Show |
15 | 340 | 0.0441 | 20 | c.183 others(37): Show |
SEC22A | ENSG00000121542.12 | transcript | ENST00000492595.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SEC22A_chr3_123196943_123279136 | 123269220 | T | TGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0054 | 1 | 340 | 0.0029 | 20 | c.724 others(37): Show |
SEC22A | ENSG00000121542.12 | transcript | ENST00000492595.6 | protein_coding | 6/6 | chr3 | TogoVar | |||||||
SEC22B_chr1_120145898_120181520 | 120163581 | T | TGTTTTTG others(13): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02647.hp1 NA18906.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0030a0001c0002t0047a0001c0002t0068 | a0001c0002t0030g0031 a0001c0002t0047g0073 a0001c0002t0068g0074 |
4 | 380 | 0.0105 | 20 | c.186 others(35): Show |
SEC22B | ENSG00000265808.4 | transcript | ENST00000578049.4 | protein_coding | 2/4 | chr1 | TogoVar | |||||||
SEC22B_chr1_120145898_120181520 | 120163581 | T | TTGTTTTT others(13): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0002 | a0001c0002t0033 | a0001c0002t0033g0092 | 1 | 380 | 0.0026 | 20 | c.186 others(35): Show |
SEC22B | ENSG00000265808.4 | transcript | ENST00000578049.4 | protein_coding | 2/4 | chr1 | TogoVar |