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 | 76651401 | A | AATATATA others(19): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0004 | a0004c0004 | a0004c0004t0032 | a0004c0004t0032g0208 | 1 | 218 | 0.0046 | 26 | c.324 others(45): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76676944 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0005 | a0005c0011 | a0005c0011t0013 | a0005c0011t0013g0031 | 1 | 218 | 0.0046 | 26 | c.324 others(45): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76681594 | G | GGGGTGTG others(19): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0005 | a0005c0011 | a0005c0011t0013 | a0005c0011t0013g0031 | 1 | 218 | 0.0046 | 26 | c.324 others(45): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76681625 | G | GTGTGTGT others(19): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01952.hp2 HG02451.hp2 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0002others(1): Show | a0001c0001t0002a0001c0001t0012a0002c0003t0001others(2): Show | a0001c0001t0002g0087 a0001c0001t0002g0136 a0001c0001t0002g0153 others(9): Show |
12 | 218 | 0.0551 | 26 | c.324 others(45): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76735868 | A | AAAAAATA others(19): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0003 | a0003c0002 | a0003c0002t0003 | a0003c0002t0003g0205 | 1 | 218 | 0.0046 | 26 | c.588 others(43): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76735868 | A | AAAATATA others(19): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0003 | a0003c0028 | a0003c0028t0003 | a0003c0028t0003g0202 | 1 | 218 | 0.0046 | 26 | c.588 others(43): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM4_chrX_50581796_50819194 | 50610352 | T | TCTCTCTC others(19): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01884.hp1 HG02486.hp1 others(2): Show |
a0003a0005 | a0003c0004a0005c0006 | a0003c0004t0001a0003c0004t0006a0005c0006t0005 | a0003c0004t0001g0084 a0003c0004t0006g0046 a0003c0004t0006g0126 others(2): Show |
5 | 175 | 0.0286 | 26 | c.295 others(45): Show |
SHROOM4 | ENSG00000158352.18 | transcript | ENST00000376020.9 | protein_coding | 5/8 | chrX | TogoVar | |||||||
SHROOM4_chrX_50581796_50819194 | 50610352 | T | TCTCTCTC others(19): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03195.hp2 NA18906.hp1 others(1): Show |
a0003 | a0003c0004 | a0003c0004t0006a0003c0004t0007a0003c0004t0015others(1): Show | a0003c0004t0006g0042 a0003c0004t0007g0044 a0003c0004t0015g0021 others(1): Show |
4 | 175 | 0.0229 | 26 | c.295 others(45): Show |
SHROOM4 | ENSG00000158352.18 | transcript | ENST00000376020.9 | protein_coding | 5/8 | chrX | TogoVar | |||||||
SHTN1_chr10_116876477_117010187 | 116893576 | G | GCACACAC others(19): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01074.hp1 HG01258.hp1 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(11): Show | a0001c0001t0001g0029 a0001c0001t0001g0043 a0001c0001t0001g0047 others(30): Show |
33 | 292 | 0.1130 | 26 | c.167 others(45): Show |
SHTN1 | ENSG00000187164.20 | transcript | ENST00000355371.9 | protein_coding | 16/16 | chr10 | TogoVar | |||||||
SHTN1_chr10_116876477_117010187 | 116893576 | G | GCGCACAC others(19): Show |
intron_variant | MODIFIER | HG00408.hp1 HG04115.hp1 NA18993.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0061others(1): Show | a0001c0001t0001g0091 a0001c0001t0005g0205 a0001c0001t0061g0104 others(1): Show |
4 | 292 | 0.0137 | 26 | c.167 others(45): Show |
SHTN1 | ENSG00000187164.20 | transcript | ENST00000355371.9 | protein_coding | 16/16 | chr10 | TogoVar | |||||||
SIAE_chr11_124628113_124678739 | 124644351 | G | GAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0203 | 1 | 290 | 0.0035 | 26 | c.966 others(43): Show |
SIAE | ENSG00000110013.13 | transcript | ENST00000263593.8 | protein_coding | 7/9 | chr11 | TogoVar | |||||||
SIAH3_chr13_45772242_45856753 | 45822520 | A | AATATATA others(19): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0088 | a0001c0001t0088g0035 | 1 | 364 | 0.0028 | 26 | c.135 others(45): Show |
SIAH3 | ENSG00000215475.5 | transcript | ENST00000400405.4 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
SIAH3_chr13_45772242_45856753 | 45843032 | C | CTGTGTGT others(19): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01106.hp1 HG01978.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0059 a0001c0001t0001g0159 a0001c0001t0001g0269 others(6): Show |
9 | 364 | 0.0247 | 26 | c.135 others(43): Show |
SIAH3 | ENSG00000215475.5 | transcript | ENST00000400405.4 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 402659 | G | GCCCCGCT others(19): Show |
downstream_gene_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 242 | 0.0041 | 26 | c.*32 others(37): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3056 | chr11 | TogoVar | |||||||
SIK2_chr11_111597449_111735855 | 111692350 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0003 | a0003c0003 | a0003c0003t0007 | a0003c0003t0007g0177 | 1 | 198 | 0.0051 | 26 | c.478 others(43): 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(19): Show |
downstream_gene_variant | MODIFIER | HG01175.hp1 HG01934.hp2 |
a0002 | a0002c0003 | a0002c0003t0009 | a0002c0003t0009g0309 a0002c0003t0009g0324 |
2 | 366 | 0.0055 | 26 | c.*30 others(37): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 783 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 116917823 | G | GGAAGGAA others(19): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0002 | a0002c0004 | a0002c0004t0006 | a0002c0004t0006g0163 | 1 | 366 | 0.0027 | 26 | c.616 others(43): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 4/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 116917827 | G | GAAAGGAA others(19): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0275 | 1 | 366 | 0.0027 | 26 | c.616 others(43): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 4/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 116965752 | T | TAACATGG others(19): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0012 | a0012c0021 | a0012c0021t0001 | a0012c0021t0001g0018 | 1 | 366 | 0.0027 | 26 | c.274 others(43): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 117013903 | G | GGTGTGTG others(19): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0288 | 1 | 366 | 0.0027 | 26 | c.274 others(45): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 117013908 | G | GTGTGTGT others(19): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02280.hp1 HG02976.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0135 a0001c0001t0004g0141 a0001c0001t0004g0142 others(2): Show |
5 | 366 | 0.0137 | 26 | c.274 others(45): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 117021928 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG02055.hp1 HG03239.hp2 NA19066.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 a0001c0001t0001g0202 a0001c0001t0001g0244 |
3 | 366 | 0.0082 | 26 | c.274 others(45): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 117023621 | A | AAAATATA others(19): Show |
intron_variant | MODIFIER | NA18974.hp1 | a0018 | a0018c0029 | a0018c0029t0003 | a0018c0029t0003g0302 | 1 | 366 | 0.0027 | 26 | c.274 others(45): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIL1_chr5_138941724_139203368 | 139155448 | T | TGAGAGAG others(19): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01934.hp1 HG02683.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 a0001c0001t0001g0041 a0001c0001t0001g0047 others(4): Show |
7 | 200 | 0.0350 | 26 | c.-10 others(45): Show |
SIL1 | ENSG00000120725.13 | transcript | ENST00000394817.7 | protein_coding | 1/9 | chr5 | TogoVar | |||||||
SIM2_chr21_36694115_36754917 | 36737961 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG04228.hp1 NA20300.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0252 a0001c0002t0002g0292 |
2 | 410 | 0.0049 | 26 | c.851 others(43): Show |
SIM2 | ENSG00000159263.16 | transcript | ENST00000290399.11 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
SIPA1L1_chr14_71315476_71746209 | 71417469 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027 | 1 | 174 | 0.0058 | 26 | c.-46 others(47): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SIPA1L1_chr14_71315476_71746209 | 71603920 | A | AATATATA others(19): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 174 | 0.0058 | 26 | c.149 others(47): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SIPA1L1_chr14_71315476_71746209 | 71603944 | T | TATATATT others(19): Show |
intron_variant | MODIFIER | HG00099.hp2 HG02738.hp1 HG03239.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 others(1): Show |
4 | 174 | 0.0230 | 26 | c.149 others(47): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SIPA1L2_chr1_232392965_232635133 | 232528102 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01243.hp2 HG01952.hp1 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0005a0001c0058others(5): Show | a0001c0003t0004a0001c0003t0006a0001c0005t0002others(7): Show | a0001c0003t0004g0135 a0001c0003t0006g0012 a0001c0005t0002g0025 others(7): Show |
10 | 292 | 0.0343 | 26 | c.-26 others(47): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 2/22 | chr1 | TogoVar | |||||||
SIPA1L3_chr19_37902208_38213369 | 37937741 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG02886.hp2 NA19009.hp2 NA19030.hp2 others(1): Show |
a0001a0004 | a0001c0001a0004c0039 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0005 a0001c0001t0002g0055 a0001c0001t0005g0096 others(1): Show |
4 | 164 | 0.0244 | 26 | c.-37 others(47): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIPA1L3_chr19_37902208_38213369 | 38000896 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0002 | a0002c0020 | a0002c0020t0001 | a0002c0020t0001g0133 | 1 | 164 | 0.0061 | 26 | c.-37 others(47): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIPA1L3_chr19_37902208_38213369 | 38030623 | A | AATACATA others(19): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02717.hp1 NA19043.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0023a0001c0003t0007 | a0001c0001t0002g0079 a0001c0001t0023g0078 a0001c0003t0007g0043 |
3 | 164 | 0.0183 | 26 | c.-31 others(45): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIPA1L3_chr19_37902208_38213369 | 38155981 | T | TGAGGCAG others(19): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0015 | a0002c0015t0018 | a0002c0015t0018g0108 | 1 | 164 | 0.0061 | 26 | c.366 others(45): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIRPB1_chr20_1556385_1625009 | 1559135 | G | GTATATAT others(19): Show |
downstream_gene_variant | MODIFIER | HG01123.hp2 HG01516.hp2 HG02886.hp1 others(2): Show |
a0004a0016 | a0004c0004a0016c0018 | a0004c0004t0005a0016c0018t0005 | a0004c0004t0005g0006 a0004c0004t0005g0049 a0004c0004t0005g0205 others(2): Show |
5 | 364 | 0.0137 | 26 | c.*63 others(37): Show |
SIRPB1 | ENSG00000101307.16 | transcript | ENST00000381605.9 | protein_coding | 2249 | chr20 | TogoVar | |||||||
SIRPD_chr20_1529251_1562705 | 1559135 | G | GTATATAT others(19): Show |
upstream_gene_variant | MODIFIER | HG01123.hp1 HG01516.hp1 HG02886.hp1 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0009 a0001c0004t0001g0043 |
5 | 390 | 0.0128 | 26 | c.-14 others(37): Show |
SIRPD | ENSG00000125900.13 | transcript | ENST00000381623.4 | protein_coding | 1431 | chr20 | TogoVar | |||||||
SIRPG_chr20_1624152_1662779 | 1650002 | G | GTATATAT others(19): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00639.hp1 HG00735.hp1 others(6): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0004a0001c0036others(3): Show | a0001c0001t0002a0001c0004t0004a0001c0036t0001others(5): Show | a0001c0001t0002g0163 a0001c0004t0004g0234 a0001c0036t0001g0239 others(6): Show |
9 | 396 | 0.0227 | 26 | c.74- others(39): Show |
SIRPG | ENSG00000089012.14 | transcript | ENST00000303415.7 | protein_coding | 1/5 | chr20 | TogoVar | |||||||
SIRPG_chr20_1624152_1662779 | 1650004 | G | GTATATAT others(19): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02896.hp2 HG02897.hp2 |
a0001a0002 | a0001c0004a0002c0011 | a0001c0004t0004a0002c0011t0004 | a0001c0004t0004g0065 a0001c0004t0004g0066 a0002c0011t0004g0237 |
3 | 396 | 0.0076 | 26 | c.74- others(39): Show |
SIRPG | ENSG00000089012.14 | transcript | ENST00000303415.7 | protein_coding | 1/5 | chr20 | TogoVar | |||||||
SIRT5_chr6_13569601_13620158 | 13574140 | G | GCCCCCCA others(19): Show |
upstream_gene_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0091 | 1 | 394 | 0.0025 | 26 | c.-79 others(35): Show |
SIRT5 | ENSG00000124523.17 | transcript | ENST00000606117.2 | protein_coding | 460 | chr6 | TogoVar | |||||||
SIT1_chr9_35644295_35655931 | 35647667 | T | TGAGAGAG others(19): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 NA18949.hp2 NA19075.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002 a0001c0001t0002g0003 |
3 | 434 | 0.0069 | 26 | c.*21 others(37): Show |
SIT1 | ENSG00000137078.10 | transcript | ENST00000259608.8 | protein_coding | 1627 | chr9 | TogoVar | |||||||
SIX5_chr19_45759785_45774252 | 45770204 | C | CAGCAGCA others(19): Show |
upstream_gene_variant | MODIFIER | NA19009.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0003 | 1 | 414 | 0.0024 | 26 | c.-13 others(37): Show |
SIX5 | ENSG00000177045.11 | transcript | ENST00000317578.7 | protein_coding | 953 | chr19 | TogoVar | |||||||
SI_chr3_164973898_165083496 | 165065464 | A | AATATATA others(19): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00673.hp2 others(17): Show |
a0001a0004a0005 | a0001c0001a0001c0010a0001c0027others(2): Show | a0001c0001t0001a0001c0010t0001a0001c0027t0003others(2): Show | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 others(17): Show |
20 | 266 | 0.0752 | 26 | c.636 others(39): Show |
SI | ENSG00000090402.8 | transcript | ENST00000264382.8 | protein_coding | 6/47 | chr3 | TogoVar | |||||||
SKAP1_chr17_48128442_48435214 | 48367536 | G | GTATATAT others(19): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00558.hp2 others(66): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0003 | a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0105 others(66): Show |
69 | 292 | 0.2363 | 26 | c.153 others(43): Show |
SKAP1 | ENSG00000141293.16 | transcript | ENST00000336915.11 | protein_coding | 2/12 | chr17 | TogoVar | |||||||
SKAP1_chr17_48128442_48435214 | 48413523 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0222 | 1 | 292 | 0.0034 | 26 | c.46+ others(43): Show |
SKAP1 | ENSG00000141293.16 | transcript | ENST00000336915.11 | protein_coding | 1/12 | chr17 | TogoVar | |||||||
SKAP2_chr7_26662068_26869590 | 26717509 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01515.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0165 a0001c0001t0001g0199 a0001c0001t0003g0171 |
3 | 296 | 0.0101 | 26 | c.796 others(43): Show |
SKAP2 | ENSG00000005020.13 | transcript | ENST00000345317.7 | protein_coding | 9/12 | chr7 | TogoVar | |||||||
SKAP2_chr7_26662068_26869590 | 26864055 | T | TCACACAC others(19): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0283 | 1 | 296 | 0.0034 | 26 | c.67+ others(39): Show |
SKAP2 | ENSG00000005020.13 | transcript | ENST00000345317.7 | protein_coding | 1/12 | chr7 | TogoVar | |||||||
SKIL_chr3_170352715_170401835 | 170365752 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG00558.hp2 NA18949.hp2 NA18951.hp2 |
a0002 | a0002c0002 | a0002c0002t0006a0002c0002t0044 | a0002c0002t0006g0258 a0002c0002t0006g0325 a0002c0002t0044g0311 |
3 | 362 | 0.0083 | 26 | c.109 others(45): Show |
SKIL | ENSG00000136603.15 | transcript | ENST00000259119.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SLA2_chr20_36607318_36651196 | 36609156 | T | TACACACA others(19): Show |
downstream_gene_variant | MODIFIER | HG01069.hp1 HG03540.hp2 NA18947.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 a0001c0001t0001g0096 a0001c0001t0001g0097 others(3): Show |
6 | 360 | 0.0167 | 26 | c.*46 others(37): Show |
SLA2 | ENSG00000101082.14 | transcript | ENST00000262866.9 | protein_coding | 3161 | chr20 | TogoVar | |||||||
SLA2_chr20_36607318_36651196 | 36609156 | T | TACATACA others(19): Show |
downstream_gene_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 360 | 0.0028 | 26 | c.*47 others(37): Show |
SLA2 | ENSG00000101082.14 | transcript | ENST00000262866.9 | protein_coding | 3161 | chr20 | TogoVar | |||||||
SLA2_chr20_36607318_36651196 | 36609156 | T | TACATACA others(19): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG01168.hp2 HG01169.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 a0001c0001t0001g0084 a0001c0001t0001g0095 others(1): Show |
4 | 360 | 0.0111 | 26 | c.*47 others(37): Show |
SLA2 | ENSG00000101082.14 | transcript | ENST00000262866.9 | protein_coding | 3161 | chr20 | TogoVar | |||||||
SLA2_chr20_36607318_36651196 | 36609156 | T | TACATACA others(19): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 HG02280.hp2 NA18939.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 a0001c0001t0001g0286 a0001c0001t0001g0333 |
3 | 360 | 0.0083 | 26 | c.*47 others(37): Show |
SLA2 | ENSG00000101082.14 | transcript | ENST00000262866.9 | protein_coding | 3161 | chr20 | TogoVar |