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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
STAU2_chr8_73415369_73751840 | 73479709 | A | ACAATATA others(20): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02630.hp2 HG03704.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0016 a0001c0001t0001g0068 a0001c0001t0001g0079 others(1): Show |
4 | 213 | 0.0188 | 27 | c.153 others(48): Show |
STAU2 | ENSG00000040341.18 | transcript | ENST00000524300.6 | protein_coding | 13/14 | chr8 | TogoVar | |||||||
STEAP1B_chr7_22414444_22505188 | 22454865 | A | AAATATAA others(20): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00544.hp2 others(51): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(3): Show | a0001c0001t0001g0055 a0001c0001t0001g0093 a0001c0001t0001g0130 others(51): Show |
54 | 220 | 0.2455 | 27 | c.763 others(46): Show |
STEAP1B | ENSG00000105889.16 | transcript | ENST00000678116.1 | protein_coding | 4/4 | chr7 | TogoVar | |||||||
STEAP1B_chr7_22414444_22505188 | 22456972 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0213 | 1 | 192 | 0.0052 | 27 | c.762 others(46): Show |
STEAP1B | ENSG00000105889.16 | transcript | ENST00000678116.1 | protein_coding | 4/4 | chr7 | TogoVar | |||||||
STEAP2_chr7_90206740_90242683 | 90208375 | A | AAGGAAGG others(20): Show |
upstream_gene_variant | MODIFIER | NA18747.hp2 NA19057.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0017 |
2 | 342 | 0.0058 | 27 | c.-38 others(38): Show |
STEAP2 | ENSG00000157214.14 | transcript | ENST00000394621.7 | protein_coding | 3364 | chr7 | TogoVar | |||||||
STEAP2_chr7_90206740_90242683 | 90208377 | G | GGAAGGAA others(20): Show |
upstream_gene_variant | MODIFIER | NA18960.hp2 NA19030.hp1 NA19062.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0060 | a0001c0001t0001g0001 a0001c0001t0060g0106 |
4 | 261 | 0.0153 | 27 | c.-38 others(38): Show |
STEAP2 | ENSG00000157214.14 | transcript | ENST00000394621.7 | protein_coding | 3362 | chr7 | TogoVar | |||||||
STEEP1_chrX_119533149_119570409 | 119536967 | T | TAAAAAAA others(20): Show |
downstream_gene_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 112 | 0.0089 | 27 | c.*27 others(38): Show |
STEEP1 | ENSG00000018610.15 | transcript | ENST00000644802.2 | protein_coding | 1181 | chrX | TogoVar | |||||||
STIM2_chr4_26855841_27030381 | 26860795 | C | CGCGGCGG others(20): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 HG02280.hp1 HG02559.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0013a0001c0001t0025 | a0001c0001t0012g0214 a0001c0001t0012g0220 a0001c0001t0012g0221 others(5): Show |
8 | 329 | 0.0243 | 27 | c.-42 others(36): Show |
STIM2 | ENSG00000109689.20 | transcript | ENST00000467087.7 | protein_coding | 45 | chr4 | TogoVar | |||||||
STK17B_chr2_196128583_196176578 | 196173988 | T | TGAGGGAC others(20): Show |
upstream_gene_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 358 | 0.0028 | 27 | c.-27 others(38): Show |
STK17B | ENSG00000081320.11 | transcript | ENST00000263955.9 | protein_coding | 2411 | chr2 | TogoVar | |||||||
STK24_chr13_98440185_98582107 | 98494412 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02886.hp2 NA19055.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011 | a0001c0001t0002g0027 a0001c0001t0011g0159 |
2 | 77 | 0.0260 | 27 | c.274 others(46): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 2/10 | chr13 | TogoVar | |||||||
STK31_chr7_23705219_23837513 | 23730878 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0142 | 1 | 131 | 0.0076 | 27 | c.483 others(44): Show |
STK31 | ENSG00000196335.13 | transcript | ENST00000355870.8 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
STK31_chr7_23705219_23837513 | 23730878 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02622.hp2 NA18963.hp2 |
a0002a0009 | a0002c0003a0009c0010 | a0002c0003t0001a0009c0010t0001 | a0002c0003t0001g0013 a0002c0003t0001g0098 a0009c0010t0001g0210 |
3 | 133 | 0.0226 | 27 | c.483 others(44): Show |
STK31 | ENSG00000196335.13 | transcript | ENST00000355870.8 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
STK31_chr7_23705219_23837513 | 23730878 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0011 | a0011c0013 | a0011c0013t0001 | a0011c0013t0001g0092 | 1 | 131 | 0.0076 | 27 | c.483 others(44): Show |
STK31 | ENSG00000196335.13 | transcript | ENST00000355870.8 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
STK32B_chr4_5046480_5505989 | 5051371 | A | AGGGCCGA others(20): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG02451.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0007a0001c0003t0001others(2): Show | a0001c0001t0001g0114 a0001c0001t0007g0113 a0001c0003t0001g0018 others(4): Show |
7 | 168 | 0.0417 | 27 | c.-49 others(36): Show |
STK32B | ENSG00000152953.13 | transcript | ENST00000282908.10 | protein_coding | 108 | chr4 | TogoVar | |||||||
STK32B_chr4_5046480_5505989 | 5064469 | T | TATATAAA others(20): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0112 | 1 | 164 | 0.0061 | 27 | c.52+ others(44): Show |
STK32B | ENSG00000152953.13 | transcript | ENST00000282908.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
STK32B_chr4_5046480_5505989 | 5311915 | T | TATATATA others(20): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01516.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0078 a0002c0002t0002g0064 |
2 | 153 | 0.0131 | 27 | c.261 others(46): Show |
STK32B | ENSG00000152953.13 | transcript | ENST00000282908.10 | protein_coding | 3/11 | chr4 | TogoVar | |||||||
STK32B_chr4_5046480_5505989 | 5489621 | A | ATTTATTT others(20): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0029 | 1 | 165 | 0.0061 | 27 | c.110 others(46): Show |
STK32B | ENSG00000152953.13 | transcript | ENST00000282908.10 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
STK33_chr11_8386870_8599228 | 8553174 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG00280.hp2 HG02004.hp1 HG02155.hp2 others(7): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0018others(1): Show | a0001c0001t0002g0005 a0001c0001t0002g0035 a0001c0001t0002g0040 others(7): Show |
10 | 314 | 0.0318 | 27 | c.-46 others(48): Show |
STK33 | ENSG00000130413.16 | transcript | ENST00000687296.1 | protein_coding | 1/15 | chr11 | TogoVar | |||||||
STK33_chr11_8386870_8599228 | 8553203 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0112 | 1 | 323 | 0.0031 | 27 | c.-46 others(48): Show |
STK33 | ENSG00000130413.16 | transcript | ENST00000687296.1 | protein_coding | 1/15 | chr11 | TogoVar | |||||||
STK38L_chr12_27239286_27330959 | 27241347 | A | ATATATTA others(20): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0007 | 1 | 369 | 0.0027 | 27 | c.-29 others(38): Show |
STK38L | ENSG00000211455.8 | transcript | ENST00000389032.8 | protein_coding | 2938 | chr12 | TogoVar | |||||||
STK38L_chr12_27239286_27330959 | 27241378 | A | ATATATTA others(20): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 367 | 0.0027 | 27 | c.-29 others(38): Show |
STK38L | ENSG00000211455.8 | transcript | ENST00000389032.8 | protein_coding | 2907 | chr12 | TogoVar | |||||||
STK38L_chr12_27239286_27330959 | 27306712 | T | TCACACAC others(20): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0315 | 1 | 372 | 0.0027 | 27 | c.187 others(44): Show |
STK38L | ENSG00000211455.8 | transcript | ENST00000389032.8 | protein_coding | 3/13 | chr12 | TogoVar | |||||||
STK38L_chr12_27239286_27330959 | 27306714 | A | ACACACAC others(20): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0289 | 1 | 26 | 0.0385 | 27 | c.187 others(44): Show |
STK38L | ENSG00000211455.8 | transcript | ENST00000389032.8 | protein_coding | 3/13 | chr12 | TogoVar | |||||||
STK39_chr2_167949022_168252595 | 167951616 | C | CAAAAAAA others(20): Show |
downstream_gene_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0010 | a0001c0010t0008 | a0001c0010t0008g0151 | 1 | 136 | 0.0074 | 27 | c.*38 others(38): Show |
STK39 | ENSG00000198648.12 | transcript | ENST00000355999.5 | protein_coding | 2405 | chr2 | TogoVar | |||||||
STK39_chr2_167949022_168252595 | 168247544 | C | CCCGCCGC others(20): Show |
5_prime_UTR_variant | MODIFIER | HG02572.hp1 HG02630.hp2 NA19062.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0020a0001c0001t0021others(1): Show | a0001c0001t0019g0003 a0001c0001t0020g0004 a0001c0001t0021g0005 others(1): Show |
4 | 116 | 0.0345 | 27 | c.-11 others(36): Show |
STK39 | ENSG00000198648.12 | transcript | ENST00000355999.5 | protein_coding | 1/18 | 110 | chr2 | TogoVar | ||||||
STK40_chr1_36334628_36390924 | 36345991 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0086 | 1 | 110 | 0.0091 | 27 | c.740 others(44): Show |
STK40 | ENSG00000196182.11 | transcript | ENST00000373132.4 | protein_coding | 7/10 | chr1 | TogoVar | |||||||
STK4_chr20_44961512_45085021 | 45011730 | T | TATATATA others(20): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0139 | 1 | 278 | 0.0036 | 27 | c.114 others(48): Show |
STK4 | ENSG00000101109.13 | transcript | ENST00000372806.8 | protein_coding | 9/10 | chr20 | TogoVar | |||||||
STMN3_chr20_63634712_63658424 | 63651979 | G | GGGGCAGG others(20): Show |
intron_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 386 | 0.0026 | 27 | c.19+ others(42): Show |
STMN3 | ENSG00000197457.10 | transcript | ENST00000370053.3 | protein_coding | 1/4 | chr20 | TogoVar | |||||||
STPG2_chr4_97553872_98148476 | 97886180 | C | CCTAGAGT others(20): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0248 | 1 | 264 | 0.0038 | 27 | c.104 others(48): Show |
STPG2 | ENSG00000163116.10 | transcript | ENST00000295268.4 | protein_coding | 8/10 | chr4 | TogoVar | |||||||
STRBP_chr9_123116617_123273586 | 123200734 | A | ATTTTTTT others(20): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0086 | 1 | 19 | 0.0526 | 27 | c.-16 others(48): Show |
STRBP | ENSG00000165209.19 | transcript | ENST00000348403.10 | protein_coding | 2/18 | chr9 | TogoVar | |||||||
STRN3_chr14_30888804_31031379 | 30929954 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01169.hp1 HG01361.hp1 |
a0001 | a0001c0004 | a0001c0004t0006a0001c0004t0007 | a0001c0004t0006g0075 a0001c0004t0007g0072 a0001c0004t0007g0073 |
3 | 183 | 0.0164 | 27 | c.989 others(42): Show |
STRN3 | ENSG00000196792.12 | transcript | ENST00000357479.10 | protein_coding | 7/17 | chr14 | TogoVar | |||||||
STRN3_chr14_30888804_31031379 | 30929967 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0212 | 1 | 161 | 0.0062 | 27 | c.989 others(42): Show |
STRN3 | ENSG00000196792.12 | transcript | ENST00000357479.10 | protein_coding | 7/17 | chr14 | TogoVar | |||||||
STUB1_chr16_675410_687801 | 679989 | T | TGCTGGGG others(20): Show |
upstream_gene_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0005 | 1 | 352 | 0.0028 | 27 | c.-53 others(36): Show |
STUB1 | ENSG00000103266.11 | transcript | ENST00000219548.9 | protein_coding | 420 | chr16 | TogoVar | |||||||
STX2_chr12_130784600_130844250 | 130818185 | A | AAAAAAAT others(20): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0300 | 1 | 213 | 0.0047 | 27 | c.205 others(44): Show |
STX2 | ENSG00000111450.15 | transcript | ENST00000392373.7 | protein_coding | 3/10 | chr12 | TogoVar | |||||||
STX2_chr12_130784600_130844250 | 130818185 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0002 | 1 | 213 | 0.0047 | 27 | c.205 others(44): Show |
STX2 | ENSG00000111450.15 | transcript | ENST00000392373.7 | protein_coding | 3/10 | chr12 | TogoVar | |||||||
STX6_chr1_180967725_181027870 | 181023050 | C | CTCTCTCT others(20): Show |
upstream_gene_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 258 | 0.0039 | 27 | c.-37 others(36): Show |
STX6 | ENSG00000135823.14 | transcript | ENST00000258301.6 | protein_coding | 181 | chr1 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9430062 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 176 | 0.0057 | 27 | c.542 others(46): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 6/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9471031 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02647.hp2 HG02683.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001a0001c0003t0002 | a0001c0001t0001g0134 a0001c0001t0001g0164 a0001c0003t0001g0042 others(1): Show |
4 | 27 | 0.1481 | 27 | c.541 others(46): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 6/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9480895 | T | TTTCTTTC others(20): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02258.hp1 HG03098.hp2 others(2): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0010 a0001c0002t0001g0052 a0001c0003t0001g0004 others(2): Show |
5 | 182 | 0.0275 | 27 | c.541 others(46): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 6/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9503105 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0040 | 1 | 9 | 0.1111 | 27 | c.448 others(44): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 5/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9535424 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0100 | 1 | 2 | 0.5000 | 27 | c.323 others(44): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 4/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9546590 | G | GTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0131 | 1 | 116 | 0.0086 | 27 | c.213 others(44): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 3/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9559760 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0041 | 1 | 7 | 0.1429 | 27 | c.118 others(44): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 2/7 | chr17 | TogoVar | |||||||
STXBP3_chr1_108741674_108814523 | 108747110 | G | GCCGCGCT others(20): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00735.hp1 others(41): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0003c0006t0001 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0010 others(34): Show |
44 | 200 | 0.2200 | 27 | c.49+ others(40): Show |
STXBP3 | ENSG00000116266.11 | transcript | ENST00000370008.4 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
STXBP3_chr1_108741674_108814523 | 108772169 | G | GATATCTA others(20): Show |
intron_variant | MODIFIER | HG03669.hp1 HG04204.hp1 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0003c0006t0001 | a0001c0001t0001g0183 a0003c0006t0001g0190 |
2 | 331 | 0.0060 | 27 | c.439 others(42): Show |
STXBP3 | ENSG00000116266.11 | transcript | ENST00000370008.4 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
STXBP5L_chr3_120903205_121429761 | 121359983 | T | TATATAAT others(20): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(112): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0001g0112 a0001c0001t0001g0134 a0001c0001t0001g0136 others(112): Show |
115 | 284 | 0.4049 | 27 | c.217 others(48): Show |
STXBP5L | ENSG00000145087.14 | transcript | ENST00000471454.6 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
STXBP5L_chr3_120903205_121429761 | 121359993 | A | ATATATTA others(20): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01884.hp1 HG02109.hp1 others(3): Show |
a0001a0006 | a0001c0001a0006c0012 | a0001c0001t0003a0006c0012t0003 | a0001c0001t0003g0135 a0001c0001t0003g0147 a0001c0001t0003g0148 others(3): Show |
6 | 288 | 0.0208 | 27 | c.217 others(48): Show |
STXBP5L | ENSG00000145087.14 | transcript | ENST00000471454.6 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
STYXL1_chr7_75991342_76053000 | 76017866 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0337 | 1 | 13 | 0.0769 | 27 | c.308 others(44): Show |
STYXL1 | ENSG00000127952.17 | transcript | ENST00000359697.8 | protein_coding | 4/8 | chr7 | TogoVar | |||||||
SUCLA2_chr13_47937656_48006273 | 47940931 | C | CGCACCTG others(20): Show |
downstream_gene_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 356 | 0.0028 | 27 | c.*24 others(38): Show |
SUCLA2 | ENSG00000136143.16 | transcript | ENST00000646932.1 | protein_coding | 1724 | chr13 | TogoVar | |||||||
SUCLG2_chr3_67369719_67659612 | 67422473 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02132.hp2 HG02165.hp2 NA19004.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0126 a0001c0001t0001g0198 a0001c0001t0004g0270 |
3 | 37 | 0.0811 | 27 | c.106 others(48): Show |
SUCLG2 | ENSG00000172340.15 | transcript | ENST00000307227.10 | protein_coding | 9/10 | chr3 | TogoVar | |||||||
SUFU_chr10_102498972_102638535 | 102637656 | G | GATTATAA others(20): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00544.hp2 HG00741.hp2 others(16): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0001t0022a0001c0001t0023others(1): Show | a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0182 others(16): Show |
19 | 27 | 0.7037 | 27 | c.*75 others(38): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 4122 | chr10 | TogoVar |