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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SHROOM3_chr4_76430229_76788253 | 76608595 | C | CATTGGAC others(4): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02717.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0020a0001c0001t0021 | a0001c0001t0001g0174 a0001c0001t0020g0067 a0001c0001t0021g0048 |
3 | 218 | 0.0138 | 11 | c.323 others(30): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76608600 | C | CATTGGAC others(4): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0186 | 1 | 218 | 0.0046 | 11 | c.323 others(30): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76608641 | C | CATTGGAC others(4): Show |
intron_variant | MODIFIER | HG00642.hp1 NA18989.hp1 |
a0001a0005 | a0001c0001a0005c0013 | a0001c0001t0002a0005c0013t0001 | a0001c0001t0002g0159 a0005c0013t0001g0109 |
2 | 218 | 0.0092 | 11 | c.323 others(30): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76667966 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01993.hp1 NA18968.hp2 others(3): Show |
a0001a0003a0028 | a0001c0001a0003c0002a0028c0054 | a0001c0001t0002a0001c0001t0012a0003c0002t0001others(2): Show | a0001c0001t0002g0018 a0001c0001t0002g0038 a0001c0001t0012g0078 others(3): Show |
6 | 218 | 0.0275 | 11 | c.324 others(30): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76689356 | G | GAGCGCCG others(4): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02040.hp1 HG02071.hp2 others(34): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0019a0002c0003others(13): Show | a0001c0001t0002a0001c0001t0008a0001c0019t0001others(18): Show | a0001c0001t0002g0105 a0001c0001t0008g0198 a0001c0019t0001g0030 others(34): Show |
37 | 218 | 0.1697 | 11 | c.324 others(30): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76693366 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01243.hp1 HG03225.hp2 HG03486.hp1 |
a0001a0013 | a0001c0001a0013c0012 | a0001c0001t0019a0013c0012t0006 | a0001c0001t0019g0188 a0013c0012t0006g0046 a0013c0012t0006g0083 |
3 | 218 | 0.0138 | 11 | c.324 others(30): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76693370 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01978.hp2 HG02809.hp1 HG03486.hp2 others(2): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0036a0002c0003others(2): Show | a0001c0001t0014a0001c0036t0002a0002c0003t0001others(2): Show | a0001c0001t0014g0186 a0001c0036t0002g0032 a0002c0003t0001g0028 others(2): Show |
5 | 218 | 0.0229 | 11 | c.324 others(30): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76735868 | A | AAAAATAT others(4): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0003 | a0003c0002 | a0003c0002t0010 | a0003c0002t0010g0215 | 1 | 218 | 0.0046 | 11 | c.588 others(28): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM4_chrX_50581796_50819194 | 50687267 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02622.hp2 NA20129.hp2 others(1): Show |
a0001a0003a0020 | a0001c0001a0001c0014a0003c0013others(1): Show | a0001c0001t0013a0001c0014t0011a0003c0013t0012others(1): Show | a0001c0001t0013g0050 a0001c0014t0011g0002 a0003c0013t0012g0004 others(1): Show |
4 | 175 | 0.0229 | 11 | c.269 others(28): Show |
SHROOM4 | ENSG00000158352.18 | transcript | ENST00000376020.9 | protein_coding | 2/8 | chrX | TogoVar | |||||||
SIAH1_chr16_48355531_48390413 | 48380928 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01891.hp2 HG03486.hp1 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0077 a0001c0003t0002g0078 |
2 | 256 | 0.0078 | 11 | c.-3+ others(26): Show |
SIAH1 | ENSG00000196470.12 | transcript | ENST00000394725.3 | protein_coding | 1/1 | chr16 | TogoVar | |||||||
SIAH3_chr13_45772242_45856753 | 45822520 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0060 | a0001c0001t0060g0194 | 1 | 364 | 0.0028 | 11 | c.135 others(30): Show |
SIAH3 | ENSG00000215475.5 | transcript | ENST00000400405.4 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
SIDT1_chr3_113527555_113634575 | 113545114 | T | TAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0008 | 1 | 318 | 0.0031 | 11 | c.222 others(30): Show |
SIDT1 | ENSG00000072858.11 | transcript | ENST00000264852.9 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SIDT1_chr3_113527555_113634575 | 113605124 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp2 others(54): Show |
a0001a0002a0006others(3): Show | a0001c0001a0001c0002a0001c0007others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0007t0001others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0060 a0001c0001t0001g0123 others(53): Show |
57 | 318 | 0.1793 | 11 | c.140 others(28): Show |
SIDT1 | ENSG00000072858.11 | transcript | ENST00000264852.9 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SIDT1_chr3_113527555_113634575 | 113625143 | T | TGGGGGGG others(4): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0268 | 1 | 318 | 0.0031 | 11 | c.230 others(28): Show |
SIDT1 | ENSG00000072858.11 | transcript | ENST00000264852.9 | protein_coding | 23/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SIDT2_chr11_117173743_117202442 | 117174164 | T | TGTGTGTG others(4): Show |
upstream_gene_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0021 | 1 | 430 | 0.0023 | 11 | c.-51 others(22): Show |
SIDT2 | ENSG00000149577.17 | transcript | ENST00000324225.9 | protein_coding | 4578 | chr11 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 401948 | G | GCCCCCGC others(4): Show |
downstream_gene_variant | MODIFIER | HG03927.hp2 | a0008 | a0008c0013 | a0008c0013t0001 | a0008c0013t0001g0037 | 1 | 242 | 0.0041 | 11 | c.*39 others(22): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3767 | chr11 | TogoVar | |||||||
SIGLEC12_chr19_51486227_51506800 | 51500455 | G | GGGGGCTG others(4): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01256.hp1 HG01258.hp2 others(2): Show |
a0003 | a0003c0016a0003c0024 | a0003c0016t0001a0003c0016t0005a0003c0024t0005 | a0003c0016t0001g0170 a0003c0016t0005g0049 a0003c0024t0005g0050 |
5 | 432 | 0.0116 | 11 | c.428 others(26): Show |
SIGLEC12 | ENSG00000254521.7 | transcript | ENST00000291707.8 | protein_coding | 1/7 | chr19 | TogoVar | |||||||
SIK1_chr21_43409483_43432131 | 43428363 | A | ACACACAC others(4): Show |
upstream_gene_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0010 | 1 | 32 | 0.0313 | 11 | c.-13 others(22): Show |
SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 1233 | chr21 | TogoVar | |||||||
SIK2_chr11_111597449_111735855 | 111692350 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG06807.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007 | a0001c0001t0003g0172 a0001c0001t0007g0175 |
2 | 198 | 0.0101 | 11 | c.478 others(28): Show |
SIK2 | ENSG00000170145.5 | transcript | ENST00000304987.4 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SIK3_chr11_116838402_117103428 | 116842618 | C | CTTTTTTT others(4): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 HG02257.hp1 HG02647.hp1 others(4): Show |
a0001a0003 | a0001c0002a0003c0005 | a0001c0002t0005a0003c0005t0005 | a0001c0002t0005g0029 a0001c0002t0005g0312 a0001c0002t0005g0339 others(4): Show |
7 | 366 | 0.0191 | 11 | c.*30 others(22): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 783 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 116855083 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0007 | 1 | 366 | 0.0027 | 11 | c.365 others(30): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 21/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 116917169 | A | ATACACAC others(4): Show |
intron_variant | MODIFIER | NA18945.hp2 NA18949.hp2 NA18970.hp1 others(2): Show |
a0001a0018 | a0001c0002a0018c0029 | a0001c0002t0003a0018c0029t0003 | a0001c0002t0003g0283 a0001c0002t0003g0301 a0001c0002t0003g0303 others(2): Show |
5 | 366 | 0.0137 | 11 | c.616 others(30): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 4/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 116917823 | G | GGAAGGAA others(4): Show |
intron_variant | MODIFIER | HG02165.hp2 HG03704.hp2 HG03710.hp2 others(5): Show |
a0002 | a0002c0004 | a0002c0004t0006a0002c0004t0014 | a0002c0004t0006g0019 a0002c0004t0006g0154 a0002c0004t0006g0156 others(5): Show |
8 | 366 | 0.0219 | 11 | c.616 others(28): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 4/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 116917870 | G | GGAAAGGA others(4): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 366 | 0.0027 | 11 | c.616 others(28): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 4/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 116938443 | C | CGGAAGGG others(4): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0019 | a0019c0026 | a0019c0026t0004 | a0019c0026t0004g0127 | 1 | 366 | 0.0027 | 11 | c.455 others(30): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 3/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 116947569 | A | ATGTATGT others(4): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00642.hp1 others(22): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0002a0001c0001t0012a0005c0007t0010 | a0001c0001t0002g0031 a0001c0001t0002g0039 a0001c0001t0002g0045 others(22): Show |
25 | 366 | 0.0683 | 11 | c.454 others(28): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 3/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 116965734 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0003 | a0003c0014 | a0003c0014t0005 | a0003c0014t0005g0010 | 1 | 366 | 0.0027 | 11 | c.274 others(28): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 117008075 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0037 | 1 | 366 | 0.0027 | 11 | c.274 others(30): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 117013915 | G | GAGGGGGT others(4): Show |
intron_variant | MODIFIER | HG01981.hp1 NA18975.hp1 NA19010.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0031 a0001c0001t0002g0051 a0001c0001t0002g0057 |
3 | 366 | 0.0082 | 11 | c.274 others(30): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 117013915 | G | GGGGGTGT others(4): Show |
intron_variant | MODIFIER | HG00438.hp1 HG03017.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0030 | a0001c0001t0002g0125 a0001c0001t0030g0105 |
2 | 366 | 0.0055 | 11 | c.274 others(30): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 117021928 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02071.hp2 HG02723.hp1 HG03540.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0201 a0001c0001t0001g0207 a0001c0001t0002g0275 others(1): Show |
4 | 366 | 0.0109 | 11 | c.274 others(30): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 117023617 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0014 | a0014c0031 | a0014c0031t0008 | a0014c0031t0008g0340 | 1 | 366 | 0.0027 | 11 | c.274 others(30): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 117023619 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02109.hp2 HG02280.hp2 |
a0004 | a0004c0006 | a0004c0006t0008 | a0004c0006t0008g0344 a0004c0006t0008g0346 a0004c0006t0008g0348 |
3 | 366 | 0.0082 | 11 | c.274 others(30): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 117023621 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0004 | a0004c0006 | a0004c0006t0008 | a0004c0006t0008g0349 | 1 | 366 | 0.0027 | 11 | c.274 others(30): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIL1_chr5_138941724_139203368 | 139057314 | T | TTAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0134 | 1 | 200 | 0.0050 | 11 | c.245 others(28): Show |
SIL1 | ENSG00000120725.13 | transcript | ENST00000394817.7 | protein_coding | 3/9 | chr5 | TogoVar | |||||||
SIM1_chr6_100380009_100469921 | 100412555 | A | AAAGAAAG others(4): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01070.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0026 | a0001c0001t0008g0209 a0001c0001t0026g0233 |
2 | 320 | 0.0063 | 11 | c.116 others(30): Show |
SIM1 | ENSG00000112246.10 | transcript | ENST00000369208.8 | protein_coding | 10/11 | chr6 | TogoVar | |||||||
SIM1_chr6_100380009_100469921 | 100433736 | C | CCCACCCA others(4): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0095 | 1 | 320 | 0.0031 | 11 | c.999 others(30): Show |
SIM1 | ENSG00000112246.10 | transcript | ENST00000369208.8 | protein_coding | 9/11 | chr6 | TogoVar | |||||||
SIM1_chr6_100380009_100469921 | 100433740 | C | CACACACA others(4): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0034 | 1 | 320 | 0.0031 | 11 | c.999 others(30): Show |
SIM1 | ENSG00000112246.10 | transcript | ENST00000369208.8 | protein_coding | 9/11 | chr6 | TogoVar | |||||||
SIM2_chr21_36694115_36754917 | 36701369 | C | CCGCTGGG others(4): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0018 | 1 | 410 | 0.0024 | 11 | c.175 others(28): Show |
SIM2 | ENSG00000159263.16 | transcript | ENST00000290399.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
SIM2_chr21_36694115_36754917 | 36737961 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01123.hp2 HG02647.hp1 HG02717.hp2 others(3): Show |
a0001a0005 | a0001c0001a0001c0007a0001c0008others(1): Show | a0001c0001t0003a0001c0007t0013a0001c0008t0013others(1): Show | a0001c0001t0003g0093 a0001c0001t0003g0148 a0001c0007t0013g0381 others(3): Show |
6 | 410 | 0.0146 | 11 | c.851 others(28): Show |
SIM2 | ENSG00000159263.16 | transcript | ENST00000290399.11 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
SIM2_chr21_36694115_36754917 | 36737973 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01358.hp2 HG01433.hp2 HG02630.hp1 others(5): Show |
a0001a0002a0005 | a0001c0001a0002c0003a0002c0021others(1): Show | a0001c0001t0001a0002c0003t0003a0002c0021t0003others(1): Show | a0001c0001t0001g0073 a0001c0001t0001g0196 a0001c0001t0001g0197 others(5): Show |
8 | 410 | 0.0195 | 11 | c.851 others(28): Show |
SIM2 | ENSG00000159263.16 | transcript | ENST00000290399.11 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
SIMC1_chr5_176233424_176350989 | 176305136 | A | AGCGGGGG others(4): Show |
intron_variant | MODIFIER | HG03453.hp1 NA18957.hp1 NA18989.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 a0001c0001t0001g0109 a0001c0001t0001g0169 |
3 | 360 | 0.0083 | 11 | c.173 others(30): Show |
SIMC1 | ENSG00000170085.18 | transcript | ENST00000429602.7 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SINHCAF_chr12_31275584_31331150 | 31282622 | C | CAAAAAAA others(4): Show |
3_prime_UTR_variant | MODIFIER | HG03453.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0300 a0001c0001t0012g0309 |
2 | 349 | 0.0057 | 11 | c.*89 others(18): Show |
SINHCAF | ENSG00000139146.14 | transcript | ENST00000337682.9 | protein_coding | 6/6 | 89 | chr12 | TogoVar | ||||||
SINHCAF_chr12_31275584_31331150 | 31309664 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02257.hp2 NA19063.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0256 a0001c0001t0004g0307 |
2 | 349 | 0.0057 | 11 | c.-20 others(30): Show |
SINHCAF | ENSG00000139146.14 | transcript | ENST00000337682.9 | protein_coding | 1/5 | chr12 | TogoVar | |||||||
SINHCAF_chr12_31275584_31331150 | 31328401 | A | AAAAAAAT others(4): Show |
upstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0256 | 1 | 349 | 0.0029 | 11 | c.-23 others(22): Show |
SINHCAF | ENSG00000139146.14 | transcript | ENST00000337682.9 | protein_coding | 2252 | chr12 | TogoVar | |||||||
SIPA1L1_chr14_71315476_71746209 | 71356567 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00735.hp2 HG00738.hp1 HG01175.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(3): Show | a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0003g0154 others(11): Show |
14 | 174 | 0.0805 | 11 | c.-46 others(32): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SIPA1L1_chr14_71315476_71746209 | 71417469 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01106.hp2 HG01433.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0116 others(1): Show |
4 | 174 | 0.0230 | 11 | c.-46 others(32): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SIPA1L1_chr14_71315476_71746209 | 71491761 | A | ACACACAC others(4): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0087 | 1 | 174 | 0.0058 | 11 | c.-46 others(32): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 2/23 | chr14 | TogoVar | |||||||
SIPA1L1_chr14_71315476_71746209 | 71564490 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00438.hp2 HG00735.hp1 others(34): Show |
a0001a0005a0006others(2): Show | a0001c0001a0001c0002a0005c0018others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(4): Show | a0001c0001t0001g0012 a0001c0001t0001g0025 a0001c0001t0001g0026 others(34): Show |
37 | 174 | 0.2126 | 11 | c.-30 others(32): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SIPA1L2_chr1_232392965_232635133 | 232442552 | G | GAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0002 | a0002c0056 | a0002c0056t0008 | a0002c0056t0008g0272 | 1 | 292 | 0.0034 | 11 | c.343 others(28): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 12/22 | chr1 | TogoVar |