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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
STX18_chr4_4413968_4547048 | 4527867 | C | CACACATA others(7): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02559.hp2 HG02572.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0003a0003c0003t0006 | a0001c0001t0002g0008 a0001c0001t0003g0005 a0001c0001t0003g0006 others(4): Show |
7 | 246 | 0.0285 | 14 | c.168 others(33): Show |
STX18 | ENSG00000168818.10 | transcript | ENST00000306200.7 | protein_coding | 1/10 | chr4 | TogoVar | |||||||
STX18_chr4_4413968_4547048 | 4527867 | C | CACATATA others(7): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02451.hp2 HG02615.hp2 others(2): Show |
a0002a0005 | a0002c0002a0005c0005 | a0002c0002t0004a0005c0005t0002 | a0002c0002t0004g0235 a0002c0002t0004g0236 a0002c0002t0004g0237 others(2): Show |
5 | 246 | 0.0203 | 14 | c.168 others(33): Show |
STX18 | ENSG00000168818.10 | transcript | ENST00000306200.7 | protein_coding | 1/10 | chr4 | TogoVar | |||||||
STX18_chr4_4413968_4547048 | 4531152 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02145.hp2 HG02622.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0037 a0001c0001t0002g0060 a0001c0001t0002g0061 others(2): Show |
5 | 246 | 0.0203 | 14 | c.168 others(33): Show |
STX18 | ENSG00000168818.10 | transcript | ENST00000306200.7 | protein_coding | 1/10 | chr4 | TogoVar | |||||||
STX2_chr12_130784600_130844250 | 130818185 | A | AAAAAAAA others(7): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0301 | 1 | 380 | 0.0026 | 14 | c.205 others(31): Show |
STX2 | ENSG00000111450.15 | transcript | ENST00000392373.7 | protein_coding | 3/10 | chr12 | TogoVar | |||||||
STX2_chr12_130784600_130844250 | 130818185 | A | AAAAAATA others(7): Show |
intron_variant | MODIFIER | HG02132.hp1 HG02257.hp2 HG02818.hp1 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0008 | a0002c0002t0002g0091 a0002c0002t0008g0328 a0002c0002t0008g0330 |
3 | 380 | 0.0079 | 14 | c.205 others(31): Show |
STX2 | ENSG00000111450.15 | transcript | ENST00000392373.7 | protein_coding | 3/10 | chr12 | TogoVar | |||||||
STX2_chr12_130784600_130844250 | 130842999 | A | AAGAAGGA others(7): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0071 | 1 | 380 | 0.0026 | 14 | c.-39 others(25): Show |
STX2 | ENSG00000111450.15 | transcript | ENST00000392373.7 | protein_coding | 3750 | chr12 | TogoVar | |||||||
STX3_chr11_59750376_59810878 | 59781100 | T | TTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01123.hp1 HG02280.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 others(18): Show |
21 | 218 | 0.0963 | 14 | c.115 others(31): Show |
STX3 | ENSG00000166900.17 | transcript | ENST00000337979.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
STX7_chr6_132440867_132518116 | 132462582 | G | GGTGTGTG others(7): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0039 | 1 | 380 | 0.0026 | 14 | c.693 others(31): Show |
STX7 | ENSG00000079950.14 | transcript | ENST00000367941.7 | protein_coding | 9/9 | chr6 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9253207 | G | GGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02572.hp2 HG03453.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0008 | a0001c0001t0002a0001c0003t0002a0001c0008t0002 | a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0003t0002g0040 others(1): Show |
4 | 188 | 0.0213 | 14 | c.644 others(31): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 7/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9345848 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0156 | 1 | 188 | 0.0053 | 14 | c.643 others(33): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 7/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9384794 | T | TTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG00558.hp2 HG03130.hp1 HG03225.hp2 others(6): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(4): Show | a0001c0002t0001g0007 a0001c0002t0002g0002 a0001c0003t0001g0072 others(6): Show |
9 | 188 | 0.0479 | 14 | c.542 others(31): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 6/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9429959 | A | ATATAATA others(7): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0144 | 1 | 188 | 0.0053 | 14 | c.542 others(33): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 6/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9429989 | A | ATATATTA others(7): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0029 | 1 | 188 | 0.0053 | 14 | c.542 others(33): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 6/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9471031 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG03704.hp1 NA18522.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0001 | a0001c0001t0002g0136 a0001c0004t0001g0144 |
2 | 188 | 0.0106 | 14 | c.541 others(33): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 6/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9488821 | A | AGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02615.hp2 HG03453.hp1 |
a0001 | a0001c0003a0001c0008 | a0001c0003t0001a0001c0008t0002 | a0001c0003t0001g0001 a0001c0003t0001g0032 a0001c0008t0002g0187 |
3 | 188 | 0.0160 | 14 | c.541 others(31): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 6/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9503105 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02145.hp2 HG03516.hp1 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0001a0001c0005t0001 | a0001c0003t0001g0032 a0001c0005t0001g0186 |
2 | 188 | 0.0106 | 14 | c.448 others(31): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 5/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9504973 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0156 | 1 | 188 | 0.0053 | 14 | c.448 others(27): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 5/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9527185 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02630.hp2 HG02965.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0110 a0001c0002t0001g0029 a0001c0002t0002g0024 others(4): Show |
7 | 188 | 0.0372 | 14 | c.323 others(33): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 4/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9535424 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02132.hp1 NA18948.hp2 NA18986.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0007 | a0001c0001t0001a0001c0003t0001a0001c0007t0001 | a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0003t0001g0019 others(1): Show |
4 | 188 | 0.0213 | 14 | c.323 others(31): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 4/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9547246 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03579.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0049 a0001c0002t0001g0051 |
2 | 188 | 0.0106 | 14 | c.213 others(31): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 3/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9559737 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG00323.hp2 HG03239.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 a0001c0001t0001g0153 |
2 | 188 | 0.0106 | 14 | c.118 others(31): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 2/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9559760 | A | ATATATAT others(7): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01346.hp1 HG01496.hp1 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0001 | a0001c0001t0001g0119 a0001c0001t0001g0146 a0001c0001t0001g0152 others(5): Show |
8 | 188 | 0.0426 | 14 | c.118 others(31): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 2/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9559760 | A | ATATATAT others(7): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00642.hp1 HG00642.hp2 others(16): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(1): Show | a0001c0001t0001g0073 a0001c0001t0001g0094 a0001c0001t0001g0112 others(16): Show |
19 | 188 | 0.1011 | 14 | c.118 others(31): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 2/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9559760 | A | ATATATAT others(7): Show |
intron_variant | MODIFIER | NA18965.hp2 NA18982.hp2 NA19088.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0003t0001a0001c0004t0001 | a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0003t0001g0019 others(1): Show |
4 | 188 | 0.0213 | 14 | c.118 others(31): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 2/7 | chr17 | TogoVar | |||||||
STXBP2_chr19_7632110_7652873 | 7650203 | C | CAAAAAAA others(7): Show |
downstream_gene_variant | MODIFIER | HG01123.hp2 HG02451.hp2 HG02886.hp2 others(2): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0003 | a0001c0001t0001g0007 a0001c0007t0003g0020 |
5 | 428 | 0.0117 | 14 | c.*23 others(25): Show |
STXBP2 | ENSG00000076944.18 | transcript | ENST00000221283.10 | protein_coding | 2331 | chr19 | TogoVar | |||||||
STXBP3_chr1_108741674_108814523 | 108793157 | A | ATTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00673.hp1 HG02027.hp2 HG02647.hp2 others(8): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0003 | a0001c0001t0002g0014 a0001c0001t0002g0069 a0001c0001t0002g0072 others(8): Show |
11 | 334 | 0.0329 | 14 | c.964 others(29): Show |
STXBP3 | ENSG00000116266.11 | transcript | ENST00000370008.4 | protein_coding | 11/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
STXBP4_chr17_54963765_55178632 | 54978342 | T | TATATGTA others(7): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00558.hp2 others(59): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0003a0003c0006others(2): Show | a0001c0001t0009a0001c0001t0019a0001c0001t0029others(29): Show | a0001c0001t0009g0017 a0001c0001t0009g0018 a0001c0001t0009g0019 others(57): Show |
62 | 378 | 0.1640 | 14 | c.-15 others(33): Show |
STXBP4 | ENSG00000166263.13 | transcript | ENST00000376352.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
STXBP4_chr17_54963765_55178632 | 55047185 | C | CGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02055.hp1 HG02109.hp2 others(8): Show |
a0001a0003a0007 | a0001c0001a0003c0004a0007c0008 | a0001c0001t0034a0001c0001t0098a0003c0004t0013others(3): Show | a0001c0001t0034g0254 a0001c0001t0034g0256 a0001c0001t0098g0257 others(8): Show |
11 | 378 | 0.0291 | 14 | c.101 others(29): Show |
STXBP4 | ENSG00000166263.13 | transcript | ENST00000376352.6 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
STXBP5L_chr3_120903205_121429761 | 121297202 | A | ATGTGTGT others(7): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0083 | 1 | 290 | 0.0035 | 14 | c.211 others(35): Show |
STXBP5L | ENSG00000145087.14 | transcript | ENST00000471454.6 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
STXBP5L_chr3_120903205_121429761 | 121312446 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 290 | 0.0035 | 14 | c.211 others(33): Show |
STXBP5L | ENSG00000145087.14 | transcript | ENST00000471454.6 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
STXBP5_chr6_147199417_147395473 | 147273195 | T | TAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00544.hp1 others(70): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(19): Show | a0001c0001t0001g0012 a0001c0001t0001g0204 a0001c0001t0001g0220 others(70): Show |
73 | 350 | 0.2086 | 14 | c.715 others(31): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
STXBP5_chr6_147199417_147395473 | 147320579 | G | GTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG02055.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0036 | a0001c0001t0005g0041 a0001c0001t0036g0169 |
2 | 350 | 0.0057 | 14 | c.180 others(33): 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(7): Show |
intron_variant | MODIFIER | HG02056.hp1 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0170 a0001c0001t0003g0002 |
2 | 350 | 0.0057 | 14 | c.214 others(33): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
STXBP5_chr6_147199417_147395473 | 147372406 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 | 1 | 350 | 0.0029 | 14 | c.308 others(33): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | TogoVar | |||||||
STXBP5_chr6_147199417_147395473 | 147392003 | G | GGAGAGAG others(7): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG02735.hp2 HG02886.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0068 a0002c0002t0002g0130 a0002c0002t0002g0168 |
3 | 350 | 0.0086 | 14 | c.*72 others(25): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 1531 | chr6 | TogoVar | |||||||
STXBP5_chr6_147199417_147395473 | 147392017 | A | AGAGAGAG others(7): Show |
downstream_gene_variant | MODIFIER | HG00741.hp1 HG01891.hp1 HG01978.hp2 others(17): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0002a0002c0002t0002a0002c0002t0004others(1): Show | a0001c0003t0002g0295 a0002c0002t0002g0025 a0002c0002t0002g0026 others(17): Show |
20 | 350 | 0.0571 | 14 | c.*72 others(25): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 1545 | chr6 | TogoVar | |||||||
STXBP5_chr6_147199417_147395473 | 147392017 | A | AGAGAGAG others(7): Show |
downstream_gene_variant | MODIFIER | NA19043.hp1 | a0002 | a0002c0002 | a0002c0002t0014 | a0002c0002t0014g0020 | 1 | 350 | 0.0029 | 14 | c.*72 others(25): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 1545 | chr6 | TogoVar | |||||||
STXBP5_chr6_147199417_147395473 | 147392017 | A | AGAGTGTG others(7): Show |
downstream_gene_variant | MODIFIER | HG02027.hp1 HG02559.hp1 HG02630.hp2 others(5): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0003a0001c0001t0010a0001c0001t0011others(3): Show | a0001c0001t0003g0051 a0001c0001t0003g0055 a0001c0001t0010g0323 others(5): Show |
8 | 350 | 0.0229 | 14 | c.*72 others(25): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 1545 | chr6 | TogoVar | |||||||
STXBP6_chr14_24804454_25055147 | 24810865 | C | CTCTGTGT others(7): Show |
3_prime_UTR_variant | MODIFIER | HG01978.hp1 NA18977.hp2 |
a0001 | a0001c0001 | a0001c0001t0060a0001c0001t0101 | a0001c0001t0060g0052 a0001c0001t0101g0205 |
2 | 242 | 0.0083 | 14 | c.*18 others(25): Show |
STXBP6 | ENSG00000168952.16 | transcript | ENST00000323944.10 | protein_coding | 6/6 | 1843 | chr14 | TogoVar | ||||||
STXBP6_chr14_24804454_25055147 | 24810865 | C | CTGTGTGT others(7): Show |
3_prime_UTR_variant | MODIFIER | HG00323.hp1 HG00735.hp2 HG00738.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0011a0001c0001t0024others(11): Show | a0001c0001t0005g0018 a0001c0001t0005g0087 a0001c0001t0005g0099 others(26): Show |
29 | 242 | 0.1198 | 14 | c.*18 others(25): Show |
STXBP6 | ENSG00000168952.16 | transcript | ENST00000323944.10 | protein_coding | 6/6 | 1843 | chr14 | TogoVar | ||||||
STXBP6_chr14_24804454_25055147 | 24882378 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02735.hp2 NA18998.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0039others(1): Show | a0001c0001t0004g0021 a0001c0001t0005g0118 a0001c0001t0039g0178 others(1): Show |
4 | 242 | 0.0165 | 14 | c.155 others(33): Show |
STXBP6 | ENSG00000168952.16 | transcript | ENST00000323944.10 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
STXBP6_chr14_24804454_25055147 | 24918452 | C | CCACACAC others(7): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0131 | 1 | 242 | 0.0041 | 14 | c.154 others(33): Show |
STXBP6 | ENSG00000168952.16 | transcript | ENST00000323944.10 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
STXBP6_chr14_24804454_25055147 | 24945139 | A | ATTTTTTT others(7): Show |
intron_variant | MODIFIER | NA18981.hp1 NA19000.hp1 NA19058.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012a0001c0001t0047 | a0001c0001t0003g0131 a0001c0001t0012g0191 a0001c0001t0012g0236 others(1): Show |
4 | 242 | 0.0165 | 14 | c.154 others(33): Show |
STXBP6 | ENSG00000168952.16 | transcript | ENST00000323944.10 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
STXBP6_chr14_24804454_25055147 | 24964647 | C | CTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00733.hp1 HG01070.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0053 a0001c0001t0002g0032 a0001c0001t0002g0054 others(10): Show |
13 | 242 | 0.0537 | 14 | c.154 others(33): Show |
STXBP6 | ENSG00000168952.16 | transcript | ENST00000323944.10 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
STXBP6_chr14_24804454_25055147 | 24968170 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0179 | 1 | 242 | 0.0041 | 14 | c.154 others(31): Show |
STXBP6 | ENSG00000168952.16 | transcript | ENST00000323944.10 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
STXBP6_chr14_24804454_25055147 | 24976852 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02145.hp2 HG02280.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0018a0001c0001t0020others(3): Show | a0001c0001t0006g0004 a0001c0001t0018g0013 a0001c0001t0020g0135 others(3): Show |
6 | 242 | 0.0248 | 14 | c.-32 others(31): Show |
STXBP6 | ENSG00000168952.16 | transcript | ENST00000323944.10 | protein_coding | 1/5 | chr14 | TogoVar | |||||||
STYXL1_chr7_75991342_76053000 | 75999507 | G | GTGGTGTG others(7): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 356 | 0.0028 | 14 | c.810 others(31): Show |
STYXL1 | ENSG00000127952.17 | transcript | ENST00000359697.8 | protein_coding | 8/8 | chr7 | TogoVar | |||||||
STYXL1_chr7_75991342_76053000 | 75999511 | A | ATGTGTGT others(7): Show |
intron_variant | MODIFIER | HG02698.hp1 HG03239.hp1 HG03490.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0009 a0001c0001t0003g0011 a0001c0001t0003g0014 others(1): Show |
4 | 356 | 0.0112 | 14 | c.810 others(31): Show |
STYXL1 | ENSG00000127952.17 | transcript | ENST00000359697.8 | protein_coding | 8/8 | chr7 | TogoVar | |||||||
STYXL1_chr7_75991342_76053000 | 76017866 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02056.hp1 HG02622.hp2 HG02970.hp2 others(2): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0004c0007t0004 | a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0180 others(2): Show |
5 | 356 | 0.0140 | 14 | c.307 others(31): Show |
STYXL1 | ENSG00000127952.17 | transcript | ENST00000359697.8 | protein_coding | 4/8 | chr7 | TogoVar | |||||||
SUB1_chr5_32580557_32609079 | 32590762 | A | ATTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG00642.hp2 others(42): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010 | a0001c0001t0001g0106 a0001c0001t0002g0003 a0001c0001t0002g0015 others(10): Show |
45 | 446 | 0.1009 | 14 | c.73- others(27): Show |
SUB1 | ENSG00000113387.12 | transcript | ENST00000265073.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |