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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
STX17_chr9_99901654_99979534 | 99904413 | A | ATTTTTTT others(11): Show |
upstream_gene_variant | MODIFIER | HG01099.hp2 HG01981.hp2 HG02970.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0019 | a0001c0001t0002g0001 a0001c0001t0002g0084 a0001c0001t0003g0036 others(2): Show |
5 | 294 | 0.0170 | 18 | c.-23 others(29): Show |
STX17 | ENSG00000136874.11 | transcript | ENST00000259400.11 | protein_coding | 2240 | chr9 | TogoVar | |||||||
STX18_chr4_4413968_4547048 | 4527867 | C | CACATATA others(11): Show |
intron_variant | MODIFIER | HG02572.hp1 HG03209.hp1 NA18906.hp1 others(1): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0002a0001c0001t0003a0001c0008t0002 | a0001c0001t0002g0011 a0001c0001t0002g0018 a0001c0001t0003g0012 others(1): Show |
4 | 246 | 0.0163 | 18 | c.168 others(37): Show |
STX18 | ENSG00000168818.10 | transcript | ENST00000306200.7 | protein_coding | 1/10 | chr4 | TogoVar | |||||||
STX2_chr12_130784600_130844250 | 130818170 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0053 | 1 | 380 | 0.0026 | 18 | c.205 others(35): Show |
STX2 | ENSG00000111450.15 | transcript | ENST00000392373.7 | protein_coding | 3/10 | chr12 | TogoVar | |||||||
STX2_chr12_130784600_130844250 | 130818185 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0312 | 1 | 380 | 0.0026 | 18 | c.205 others(35): Show |
STX2 | ENSG00000111450.15 | transcript | ENST00000392373.7 | protein_coding | 3/10 | chr12 | TogoVar | |||||||
STX2_chr12_130784600_130844250 | 130818185 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0325 | 1 | 380 | 0.0026 | 18 | c.205 others(35): Show |
STX2 | ENSG00000111450.15 | transcript | ENST00000392373.7 | protein_coding | 3/10 | chr12 | TogoVar | |||||||
STX2_chr12_130784600_130844250 | 130818185 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01099.hp1 NA20905.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0286 a0002c0002t0002g0288 |
2 | 380 | 0.0053 | 18 | c.205 others(35): Show |
STX2 | ENSG00000111450.15 | transcript | ENST00000392373.7 | protein_coding | 3/10 | chr12 | TogoVar | |||||||
STX2_chr12_130784600_130844250 | 130818185 | A | AAAAAATA others(11): Show |
intron_variant | MODIFIER | HG01070.hp1 NA19090.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0079 a0002c0002t0002g0327 |
2 | 380 | 0.0053 | 18 | c.205 others(35): Show |
STX2 | ENSG00000111450.15 | transcript | ENST00000392373.7 | protein_coding | 3/10 | chr12 | TogoVar | |||||||
STX2_chr12_130784600_130844250 | 130818185 | A | AAAATATA others(11): Show |
intron_variant | MODIFIER | HG01261.hp1 NA18944.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0078 a0002c0002t0002g0093 |
2 | 380 | 0.0053 | 18 | c.205 others(35): Show |
STX2 | ENSG00000111450.15 | transcript | ENST00000392373.7 | protein_coding | 3/10 | chr12 | TogoVar | |||||||
STX2_chr12_130784600_130844250 | 130818185 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG00280.hp1 HG04204.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0085 a0002c0002t0002g0086 |
2 | 380 | 0.0053 | 18 | c.205 others(35): Show |
STX2 | ENSG00000111450.15 | transcript | ENST00000392373.7 | protein_coding | 3/10 | chr12 | TogoVar | |||||||
STX3_chr11_59750376_59810878 | 59791005 | A | AGACCCAG others(11): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02486.hp2 HG03041.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0024 a0001c0001t0005g0130 a0001c0001t0005g0131 others(1): Show |
5 | 218 | 0.0229 | 18 | c.357 others(33): Show |
STX3 | ENSG00000166900.17 | transcript | ENST00000337979.9 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
STX8_chr17_9245471_9580820 | 9253207 | G | GGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0048 | 1 | 188 | 0.0053 | 18 | c.644 others(35): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 7/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9339070 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01891.hp1 NA20300.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0110 a0001c0004t0001g0091 |
2 | 188 | 0.0106 | 18 | c.643 others(37): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 7/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9384794 | T | TTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02615.hp2 HG02647.hp1 others(1): Show |
a0001 | a0001c0002a0001c0003a0001c0008 | a0001c0002t0001a0001c0003t0001a0001c0008t0002 | a0001c0002t0001g0035 a0001c0003t0001g0001 a0001c0003t0001g0046 others(1): Show |
4 | 188 | 0.0213 | 18 | c.542 others(35): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 6/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9430027 | A | AATATATT others(11): Show |
intron_variant | MODIFIER | HG02615.hp1 NA18906.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0126 a0001c0002t0002g0003 |
2 | 188 | 0.0106 | 18 | c.542 others(37): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 6/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9430040 | G | GAATATAT others(11): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01891.hp1 HG02145.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(4): Show | a0001c0001t0002g0093 a0001c0002t0001g0010 a0001c0002t0001g0011 others(12): Show |
15 | 188 | 0.0798 | 18 | c.542 others(37): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 6/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9430076 | T | TAATATAT others(11): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03471.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0025 a0001c0002t0002g0045 |
2 | 188 | 0.0106 | 18 | c.542 others(37): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 6/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9471031 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0125 | 1 | 188 | 0.0053 | 18 | c.541 others(37): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 6/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9504973 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00738.hp1 HG02055.hp1 others(1): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001a0001c0003t0002 | a0001c0002t0001g0007 a0001c0002t0001g0035 a0001c0003t0001g0066 others(1): Show |
4 | 188 | 0.0213 | 18 | c.448 others(31): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 5/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9506422 | C | CCCCCCCC others(11): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0106 | 1 | 188 | 0.0053 | 18 | c.324 others(35): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 4/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9535424 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02572.hp1 HG02897.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0002g0162 a0001c0002t0001g0044 a0001c0002t0002g0025 others(4): Show |
7 | 188 | 0.0372 | 18 | c.323 others(35): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 4/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9546590 | G | GTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG03471.hp1 HG03471.hp2 HG03942.hp1 others(3): Show |
a0001 | a0001c0002a0001c0003a0001c0004 | a0001c0002t0002a0001c0003t0001a0001c0004t0001 | a0001c0002t0002g0003 a0001c0002t0002g0045 a0001c0003t0001g0004 others(3): Show |
6 | 188 | 0.0319 | 18 | c.213 others(35): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 3/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9559760 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 188 | 0.0053 | 18 | c.118 others(35): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 2/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9559760 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0069 | 1 | 188 | 0.0053 | 18 | c.118 others(35): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 2/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9559760 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0001 | 1 | 188 | 0.0053 | 18 | c.118 others(35): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 2/7 | chr17 | TogoVar | |||||||
STXBP3_chr1_108741674_108814523 | 108771858 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0296 a0001c0001t0001g0297 |
2 | 334 | 0.0060 | 18 | c.439 others(33): Show |
STXBP3 | ENSG00000116266.11 | transcript | ENST00000370008.4 | protein_coding | 6/18 | chr1 | TogoVar | |||||||
STXBP5L_chr3_120903205_121429761 | 120984632 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02809.hp2 NA20129.hp2 |
a0004a0007 | a0004c0004a0007c0007 | a0004c0004t0005a0007c0007t0005 | a0004c0004t0005g0270 a0004c0004t0005g0274 a0007c0007t0005g0269 |
3 | 290 | 0.0103 | 18 | c.287 others(37): Show |
STXBP5L | ENSG00000145087.14 | transcript | ENST00000471454.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
STXBP5L_chr3_120903205_121429761 | 121173323 | T | TATAATAA others(11): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 290 | 0.0035 | 18 | c.877 others(37): Show |
STXBP5L | ENSG00000145087.14 | transcript | ENST00000471454.6 | protein_coding | 9/26 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
STXBP5L_chr3_120903205_121429761 | 121312446 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02886.hp1 |
a0004 | a0004c0004 | a0004c0004t0005 | a0004c0004t0005g0274 a0004c0004t0005g0275 |
2 | 290 | 0.0069 | 18 | c.211 others(37): Show |
STXBP5L | ENSG00000145087.14 | transcript | ENST00000471454.6 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
STXBP5_chr6_147199417_147395473 | 147213434 | A | ATATATGT others(11): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0181 | 1 | 350 | 0.0029 | 18 | c.248 others(35): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
STXBP5_chr6_147199417_147395473 | 147213477 | T | TGTGTGCG others(11): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0035 | 1 | 350 | 0.0029 | 18 | c.248 others(35): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
STXBP5_chr6_147199417_147395473 | 147213477 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0187 a0001c0003t0009g0188 |
2 | 350 | 0.0057 | 18 | c.248 others(35): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
STXBP5_chr6_147199417_147395473 | 147213477 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0189 | 1 | 350 | 0.0029 | 18 | c.248 others(35): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
STXBP5_chr6_147199417_147395473 | 147213477 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0177 | 1 | 350 | 0.0029 | 18 | c.248 others(35): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
STXBP5_chr6_147199417_147395473 | 147320579 | G | GTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02896.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0042 a0001c0001t0005g0043 |
2 | 350 | 0.0057 | 18 | c.180 others(37): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
STXBP5_chr6_147199417_147395473 | 147337192 | G | GACACACA others(11): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00621.hp2 others(26): Show |
a0001a0007 | a0001c0001a0001c0004a0001c0011others(1): Show | a0001c0001t0003a0001c0001t0010a0001c0001t0018others(4): Show | a0001c0001t0003g0048 a0001c0001t0003g0145 a0001c0001t0003g0307 others(26): Show |
29 | 350 | 0.0829 | 18 | c.214 others(37): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
STXBP5_chr6_147199417_147395473 | 147337214 | C | CACACACA others(11): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG02257.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0003a0001c0001t0042a0001c0004t0007others(3): Show | a0001c0001t0003g0328 a0001c0001t0042g0321 a0001c0004t0007g0013 others(10): Show |
13 | 350 | 0.0371 | 18 | c.214 others(37): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
STXBP5_chr6_147199417_147395473 | 147392017 | A | AGAGAGAG others(11): Show |
downstream_gene_variant | MODIFIER | HG01255.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0114 | 1 | 350 | 0.0029 | 18 | c.*72 others(29): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 1545 | chr6 | TogoVar | |||||||
STXBP5_chr6_147199417_147395473 | 147392017 | A | AGAGAGAG others(11): Show |
downstream_gene_variant | MODIFIER | HG01261.hp1 HG01993.hp1 HG02004.hp1 others(8): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0032 a0002c0002t0002g0063 a0002c0002t0002g0064 others(8): Show |
11 | 350 | 0.0314 | 18 | c.*72 others(29): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 1545 | chr6 | TogoVar | |||||||
STXBP5_chr6_147199417_147395473 | 147392017 | A | AGAGAGTG others(11): Show |
downstream_gene_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0058 | 1 | 350 | 0.0029 | 18 | c.*72 others(29): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 1545 | chr6 | TogoVar | |||||||
STXBP5_chr6_147199417_147395473 | 147392017 | A | AGAGTGTG others(11): Show |
downstream_gene_variant | MODIFIER | NA18980.hp1 NA18988.hp1 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0042 | a0001c0001t0010g0312 a0001c0001t0042g0321 |
2 | 350 | 0.0057 | 18 | c.*72 others(29): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 1545 | chr6 | TogoVar | |||||||
STXBP6_chr14_24804454_25055147 | 24882378 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | NA18612.hp2 NA18981.hp1 NA19065.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0012a0001c0001t0015 | a0001c0001t0004g0038 a0001c0001t0012g0191 a0001c0001t0015g0112 |
3 | 242 | 0.0124 | 18 | c.155 others(37): Show |
STXBP6 | ENSG00000168952.16 | transcript | ENST00000323944.10 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
STXBP6_chr14_24804454_25055147 | 24964647 | C | CTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG02056.hp1 HG02145.hp1 HG02572.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0012a0001c0001t0038others(6): Show | a0001c0001t0005g0018 a0001c0001t0012g0191 a0001c0001t0012g0236 others(7): Show |
10 | 242 | 0.0413 | 18 | c.154 others(37): Show |
STXBP6 | ENSG00000168952.16 | transcript | ENST00000323944.10 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
STXBP6_chr14_24804454_25055147 | 24976852 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0006 | 1 | 242 | 0.0041 | 18 | c.-32 others(35): Show |
STXBP6 | ENSG00000168952.16 | transcript | ENST00000323944.10 | protein_coding | 1/5 | chr14 | TogoVar | |||||||
STXBP6_chr14_24804454_25055147 | 25002359 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0241 | 1 | 242 | 0.0041 | 18 | c.-32 others(37): Show |
STXBP6 | ENSG00000168952.16 | transcript | ENST00000323944.10 | protein_coding | 1/5 | chr14 | TogoVar | |||||||
STYK1_chr12_10613923_10679052 | 10650119 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02698.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0020 | a0001c0001t0002g0198 a0002c0003t0020g0152 |
2 | 368 | 0.0054 | 18 | c.-19 others(39): Show |
STYK1 | ENSG00000060140.9 | transcript | ENST00000075503.8 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
STYXL1_chr7_75991342_76053000 | 75994983 | T | TTGGATTT others(11): Show |
downstream_gene_variant | MODIFIER | NA18979.hp2 | a0002 | a0002c0004 | a0002c0004t0008 | a0002c0004t0008g0319 | 1 | 356 | 0.0028 | 18 | c.*14 others(29): Show |
STYXL1 | ENSG00000127952.17 | transcript | ENST00000359697.8 | protein_coding | 1358 | chr7 | TogoVar | |||||||
STYXL1_chr7_75991342_76053000 | 75999495 | G | GTATGTGT others(11): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006 | 1 | 356 | 0.0028 | 18 | c.810 others(35): Show |
STYXL1 | ENSG00000127952.17 | transcript | ENST00000359697.8 | protein_coding | 8/8 | chr7 | TogoVar | |||||||
STYXL1_chr7_75991342_76053000 | 76017866 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00735.hp2 others(41): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(2): Show | a0001c0001t0001g0341 a0001c0001t0003g0005 a0001c0001t0003g0006 others(41): Show |
44 | 356 | 0.1236 | 18 | c.308 others(35): Show |
STYXL1 | ENSG00000127952.17 | transcript | ENST00000359697.8 | protein_coding | 4/8 | chr7 | TogoVar | |||||||
STYXL1_chr7_75991342_76053000 | 76026192 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0156 | 1 | 356 | 0.0028 | 18 | c.165 others(35): Show |
STYXL1 | ENSG00000127952.17 | transcript | ENST00000359697.8 | protein_coding | 3/8 | chr7 | TogoVar | |||||||
STYXL2_chr1_167089075_167134165 | 167111513 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0254 | 1 | 362 | 0.0028 | 18 | c.111 others(35): Show |
STYXL2 | ENSG00000198842.10 | transcript | ENST00000361200.7 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |