| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SHANK1_chr19_50654255_50724802 | 50665737 | T | TAAAAAAA others(29): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0002 | a0001c0002t0053 | a0001c0002t0053g0030 | 1 | 316 | 0.0032 | 36 | c.576 others(53): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | TogoVar | ||||||
| SHANK1_chr19_50654255_50724802 | 50692456 | G | GATATATA others(29): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00639.hp2 HG01106.hp2 others(2): Show |
a0001a0002 | a0001c0002a0001c0004a0002c0001 | a0001c0002t0001a0001c0002t0009a0001c0002t0010others(2): Show | a0001c0002t0001g0093a0001c0002t0009g0099a0001c0002t0010g0197others(2): Show | 5 | 316 | 0.0158 | 36 | c.196 others(55): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | TogoVar | ||||||
| SHC2_chr19_411589_466033 | 442932 | T | TGGATGGG others(29): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00544.hp1 others(157): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0044others(151): Show | 160 | 212 | 0.7547 | 36 | c.469 others(53): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 1/12 | chr19 | TogoVar | ||||||
| SHC4_chr15_48818741_48968919 | 48907840 | G | GTGTGTGT others(29): Show |
intron_variant | MODIFIER | HG02723.hp1 HG02818.hp2 HG03540.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0023 | a0001c0001t0001g0030a0001c0001t0001g0045a0001c0001t0001g0126others(4): Show | 7 | 384 | 0.0182 | 36 | c.657 others(55): Show |
SHC4 | ENSG00000185634.12 | transcript | ENST00000332408.9 | protein_coding | 2/11 | chr15 | TogoVar | ||||||
| SHC4_chr15_48818741_48968919 | 48907840 | G | GTGTGTGT others(29): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02809.hp2 HG03098.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0001t0020a0001c0004t0003 | a0001c0001t0003g0060a0001c0001t0003g0061a0001c0001t0003g0281others(2): Show | 5 | 384 | 0.0130 | 36 | c.657 others(55): Show |
SHC4 | ENSG00000185634.12 | transcript | ENST00000332408.9 | protein_coding | 2/11 | chr15 | TogoVar | ||||||
| SHCBP1L_chr1_182894865_182958166 | 182924797 | A | AAAGAAAG others(29): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0059 | 1 | 302 | 0.0033 | 36 | c.118 others(55): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 6/9 | chr1 | TogoVar | ||||||
| SHISA7_chr19_55423740_55448300 | 55423889 | A | AGGGAGAG others(29): Show |
downstream_gene_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 372 | 0.0027 | 36 | c.*92 others(47): Show |
SHISA7 | ENSG00000187902.13 | transcript | ENST00000376325.10 | protein_coding | 4850 | chr19 | TogoVar | ||||||
| SHISAL1_chr22_44238665_44317951 | 44247868 | A | AGCCACCT others(29): Show |
3_prime_UTR_variant | MODIFIER | HG02155.hp2 NA18998.hp2 |
a0001 | a0001c0153a0001c0201 | a0001c0153t0048a0001c0201t0094 | a0001c0153t0048g0052a0001c0201t0094g0311 | 2 | 380 | 0.0053 | 36 | c.*17 others(47): Show |
SHISAL1 | ENSG00000138944.8 | transcript | ENST00000381176.5 | protein_coding | 5/5 | 1816 | chr22 | TogoVar | |||||
| SHISAL1_chr22_44238665_44317951 | 44261077 | T | TTATATAT others(29): Show |
intron_variant | MODIFIER | HG00280.hp2 HG02129.hp1 HG02723.hp1 others(6): Show |
a0001 | a0001c0068a0001c0113a0001c0172others(6): Show | a0001c0068t0001a0001c0113t0001a0001c0172t0001others(6): Show | a0001c0068t0001g0350a0001c0113t0001g0148a0001c0172t0001g0348others(6): Show | 9 | 380 | 0.0237 | 36 | c.600 others(55): Show |
SHISAL1 | ENSG00000138944.8 | transcript | ENST00000381176.5 | protein_coding | 4/4 | chr22 | TogoVar | ||||||
| SHISAL1_chr22_44238665_44317951 | 44284897 | G | GCCTGCCT others(29): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02027.hp2 HG02895.hp2 others(1): Show |
a0001 | a0001c0050a0001c0051a0001c0052others(1): Show | a0001c0050t0001a0001c0051t0027a0001c0052t0028others(1): Show | a0001c0050t0001g0315a0001c0051t0027g0138a0001c0052t0028g0123others(1): Show | 4 | 380 | 0.0105 | 36 | c.599 others(51): Show |
SHISAL1 | ENSG00000138944.8 | transcript | ENST00000381176.5 | protein_coding | 4/4 | chr22 | TogoVar | ||||||
| SHISAL1_chr22_44238665_44317951 | 44284897 | G | GCCTGCCT others(29): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0047 | a0001c0047t0002 | a0001c0047t0002g0161 | 1 | 380 | 0.0026 | 36 | c.599 others(51): Show |
SHISAL1 | ENSG00000138944.8 | transcript | ENST00000381176.5 | protein_coding | 4/4 | chr22 | TogoVar | ||||||
| SHOC2_chr10_110914604_111018665 | 111017715 | A | ATGGTAAC others(29): Show |
downstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 386 | 0.0026 | 36 | c.*58 others(47): Show |
SHOC2 | ENSG00000108061.13 | transcript | ENST00000369452.9 | protein_coding | 4051 | chr10 | TogoVar | ||||||
| SHOX2_chr3_158090905_158111420 | 158096909 | T | TATATATA others(29): Show |
3_prime_UTR_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0062 | a0001c0001t0062g0066 | 1 | 380 | 0.0026 | 36 | c.*11 others(47): Show |
SHOX2 | ENSG00000168779.21 | transcript | ENST00000483851.7 | protein_coding | 5/5 | 1117 | chr3 | TogoVar | |||||
| SHOX2_chr3_158090905_158111420 | 158096954 | A | ATATATAT others(29): Show |
3_prime_UTR_variant | MODIFIER | HG02258.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0033a0001c0001t0098 | a0001c0001t0033g0022a0001c0001t0098g0158 | 2 | 380 | 0.0053 | 36 | c.*10 others(47): Show |
SHOX2 | ENSG00000168779.21 | transcript | ENST00000483851.7 | protein_coding | 5/5 | 1072 | chr3 | TogoVar | |||||
| SHROOM3_chr4_76430229_76788253 | 76646225 | A | AATAAATA others(29): Show |
intron_variant | MODIFIER | HG01255.hp2 NA18989.hp1 |
a0001a0018 | a0001c0001a0018c0026 | a0001c0001t0002a0018c0026t0001 | a0001c0001t0002g0159a0018c0026t0001g0017 | 2 | 218 | 0.0092 | 36 | c.324 others(55): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| SHROOM3_chr4_76430229_76788253 | 76646225 | A | AATAAATA others(29): Show |
intron_variant | MODIFIER | HG02717.hp1 HG03669.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0174a0002c0002t0001g0151 | 2 | 218 | 0.0092 | 36 | c.324 others(55): 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(29): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0015 | a0001c0015t0009 | a0001c0015t0009g0059 | 1 | 218 | 0.0046 | 36 | c.324 others(55): 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(29): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02572.hp1 HG02895.hp1 others(3): Show |
a0001a0002a0017 | a0001c0001a0002c0002a0017c0046 | a0001c0001t0002a0001c0001t0016a0001c0001t0027others(3): Show | a0001c0001t0002g0055a0001c0001t0016g0193a0001c0001t0027g0053others(3): Show | 6 | 218 | 0.0275 | 36 | c.324 others(55): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| SHROOM4_chrX_50581796_50819194 | 50618277 | C | CTCCTTCC others(29): Show |
intron_variant | MODIFIER | HG04228.hp1 NA18977.hp1 NA18982.hp1 others(4): Show |
a0001a0021 | a0001c0001a0021c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0021others(2): Show | a0001c0001t0001g0118a0001c0001t0001g0119a0001c0001t0001g0145others(4): Show | 7 | 175 | 0.0400 | 36 | c.295 others(55): Show |
SHROOM4 | ENSG00000158352.18 | transcript | ENST00000376020.9 | protein_coding | 5/8 | chrX | TogoVar | ||||||
| SIAH3_chr13_45772242_45856753 | 45843034 | C | CTCTCTCT others(29): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0093 | 1 | 364 | 0.0028 | 36 | c.135 others(53): Show |
SIAH3 | ENSG00000215475.5 | transcript | ENST00000400405.4 | protein_coding | 1/1 | chr13 | TogoVar | ||||||
| SIDT1_chr3_113527555_113634575 | 113620025 | T | TTAGATAG others(29): Show |
intron_variant | MODIFIER | NA18988.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0080 | 1 | 318 | 0.0031 | 36 | c.209 others(53): Show |
SIDT1 | ENSG00000072858.11 | transcript | ENST00000264852.9 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| SIK2_chr11_111597449_111735855 | 111628416 | A | ATCTTTCT others(29): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01169.hp1 HG01496.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(5): Show | a0001c0001t0001g0070a0001c0001t0001g0096a0001c0001t0006g0086others(8): Show | 11 | 198 | 0.0556 | 36 | c.316 others(53): Show |
SIK2 | ENSG00000170145.5 | transcript | ENST00000304987.4 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| SIK3_chr11_116838402_117103428 | 117013901 | G | GGTGTGTG others(29): Show |
intron_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0147 | 1 | 366 | 0.0027 | 36 | c.274 others(55): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | ||||||
| SIK3_chr11_116838402_117103428 | 117016394 | G | GGGAGGGA others(29): Show |
intron_variant | MODIFIER | HG02976.hp1 NA19030.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0005 | a0001c0001t0004g0141a0001c0002t0005g0028 | 2 | 366 | 0.0055 | 36 | c.274 others(55): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | ||||||
| SIK3_chr11_116838402_117103428 | 117016394 | G | GGGAGGGA others(29): Show |
intron_variant | MODIFIER | HG02523.hp1 HG04199.hp1 NA18999.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0027 | a0001c0001t0004g0107a0001c0001t0004g0117a0001c0001t0004g0133others(1): Show | 4 | 366 | 0.0109 | 36 | c.274 others(55): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | ||||||
| SIK3_chr11_116838402_117103428 | 117016394 | G | GGGAGGGA others(29): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0104a0001c0001t0002g0105 | 2 | 366 | 0.0055 | 36 | c.274 others(55): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | ||||||
| SIK3_chr11_116838402_117103428 | 117016394 | G | GGGAGGGA others(29): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0135 | 1 | 366 | 0.0027 | 36 | c.274 others(55): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | ||||||
| SIK3_chr11_116838402_117103428 | 117020246 | T | TATATATA others(29): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01069.hp1 HG01106.hp2 others(2): Show |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0008 | a0002c0003t0001g0338a0002c0003t0001g0341a0002c0003t0001g0342others(2): Show | 5 | 366 | 0.0137 | 36 | c.274 others(55): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | ||||||
| SIK3_chr11_116838402_117103428 | 117020246 | T | TATATATA others(29): Show |
intron_variant | MODIFIER | HG02647.hp1 HG03471.hp2 |
a0003 | a0003c0005 | a0003c0005t0005 | a0003c0005t0005g0010a0003c0005t0005g0021 | 2 | 366 | 0.0055 | 36 | c.274 others(55): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | ||||||
| SIK3_chr11_116838402_117103428 | 117020246 | T | TATATATA others(29): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01261.hp2 HG02523.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0027others(1): Show | a0001c0001t0001g0047a0001c0001t0004g0108a0001c0001t0004g0115others(12): Show | 15 | 366 | 0.0410 | 36 | c.274 others(55): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | ||||||
| SIL1_chr5_138941724_139203368 | 139155448 | T | TGAGAGAG others(29): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02109.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0168a0001c0001t0002g0165 | 2 | 200 | 0.0100 | 36 | c.-10 others(55): Show |
SIL1 | ENSG00000120725.13 | transcript | ENST00000394817.7 | protein_coding | 1/9 | chr5 | TogoVar | ||||||
| SIMC1_chr5_176233424_176350989 | 176305699 | A | AAGTGAGG others(29): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01952.hp2 HG02258.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117a0001c0001t0001g0118a0001c0001t0001g0119others(6): Show | 9 | 360 | 0.0250 | 36 | c.173 others(55): Show |
SIMC1 | ENSG00000170085.18 | transcript | ENST00000429602.7 | protein_coding | 4/9 | chr5 | TogoVar | ||||||
| SIPA1L1_chr14_71315476_71746209 | 71603941 | C | CTATATAT others(29): Show |
intron_variant | MODIFIER | HG02257.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0170a0001c0001t0002g0169 | 2 | 174 | 0.0115 | 36 | c.149 others(57): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| SIPA1L2_chr1_232392965_232635133 | 232528078 | T | TTATATAT others(29): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0002 | a0002c0006 | a0002c0006t0007 | a0002c0006t0007g0004 | 1 | 292 | 0.0034 | 36 | c.-26 others(57): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 2/22 | chr1 | TogoVar | ||||||
| SIPA1L2_chr1_232392965_232635133 | 232528102 | A | ATATATAT others(29): Show |
intron_variant | MODIFIER | HG03669.hp1 HG04115.hp2 NA18906.hp1 others(1): Show |
a0001a0002a0003 | a0001c0003a0002c0007a0003c0013 | a0001c0003t0005a0002c0007t0003a0003c0013t0002 | a0001c0003t0005g0035a0002c0007t0003g0242a0002c0007t0003g0270others(1): Show | 4 | 292 | 0.0137 | 36 | c.-26 others(57): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 2/22 | chr1 | TogoVar | ||||||
| SIPA1L3_chr19_37902208_38213369 | 37968063 | C | CTCTTTCT others(29): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02258.hp1 HG02717.hp2 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0002a0001c0001t0005a0001c0003t0001others(4): Show | a0001c0001t0002g0087a0001c0001t0002g0114a0001c0001t0005g0096others(6): Show | 9 | 164 | 0.0549 | 36 | c.-37 others(57): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| SIPA1_chr11_65633101_65655912 | 65638048 | C | CGGCCCCG others(29): Show |
upstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0054 | 1 | 406 | 0.0025 | 36 | c.-22 others(45): Show |
SIPA1 | ENSG00000213445.10 | transcript | ENST00000534313.6 | protein_coding | 52 | chr11 | TogoVar | ||||||
| SIRPB1_chr20_1556385_1625009 | 1559135 | G | GTATATAT others(29): Show |
downstream_gene_variant | MODIFIER | HG01515.hp1 HG01517.hp1 |
a0004 | a0004c0004 | a0004c0004t0005 | a0004c0004t0005g0006 | 2 | 364 | 0.0055 | 36 | c.*63 others(47): Show |
SIRPB1 | ENSG00000101307.16 | transcript | ENST00000381605.9 | protein_coding | 2249 | chr20 | TogoVar | ||||||
| SIRPB2_chr20_1469578_1496420 | 1482526 | T | TCTTCCTT others(29): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0066 | 1 | 372 | 0.0027 | 36 | c.86- others(51): Show |
SIRPB2 | ENSG00000196209.13 | transcript | ENST00000359801.8 | protein_coding | 1/4 | chr20 | TogoVar | ||||||
| SIRPD_chr20_1529251_1562705 | 1559135 | G | GTATATAT others(29): Show |
upstream_gene_variant | MODIFIER | HG01515.hp2 HG01517.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0041 | 2 | 390 | 0.0051 | 36 | c.-14 others(47): Show |
SIRPD | ENSG00000125900.13 | transcript | ENST00000381623.4 | protein_coding | 1431 | chr20 | TogoVar | ||||||
| SIRT5_chr6_13569601_13620158 | 13574141 | C | CCCCCCAC others(29): Show |
upstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01934.hp1 others(2): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0004a0001c0005t0004 | a0001c0001t0004g0004a0001c0001t0004g0024a0001c0001t0004g0088others(1): Show | 5 | 394 | 0.0127 | 36 | c.-79 others(45): Show |
SIRT5 | ENSG00000124523.17 | transcript | ENST00000606117.2 | protein_coding | 459 | chr6 | TogoVar | ||||||
| SIX5_chr19_45759785_45774252 | 45770204 | C | CCAGCAGC others(29): Show |
upstream_gene_variant | MODIFIER | NA18955.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0003 | 1 | 414 | 0.0024 | 36 | c.-13 others(47): Show |
SIX5 | ENSG00000177045.11 | transcript | ENST00000317578.7 | protein_coding | 953 | chr19 | TogoVar | ||||||
| SI_chr3_164973898_165083496 | 165065464 | A | AATATATA others(29): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 266 | 0.0038 | 36 | c.636 others(49): Show |
SI | ENSG00000090402.8 | transcript | ENST00000264382.8 | protein_coding | 6/47 | chr3 | TogoVar | ||||||
| SKA2_chr17_59104857_59160186 | 59129915 | G | GGGAGGGA others(29): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0269 | 1 | 294 | 0.0034 | 36 | c.120 others(53): Show |
SKA2 | ENSG00000182628.13 | transcript | ENST00000330137.12 | protein_coding | 2/3 | chr17 | TogoVar | ||||||
| SKAP1_chr17_48128442_48435214 | 48413523 | A | AAAAAAAA others(29): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0088 | 1 | 292 | 0.0034 | 36 | c.46+ others(53): Show |
SKAP1 | ENSG00000141293.16 | transcript | ENST00000336915.11 | protein_coding | 1/12 | chr17 | TogoVar | ||||||
| SKIL_chr3_170352715_170401835 | 170399004 | T | TAAGGGGG others(29): Show |
downstream_gene_variant | MODIFIER | NA18982.hp2 | a0002 | a0002c0002 | a0002c0002t0052 | a0002c0002t0052g0254 | 1 | 362 | 0.0028 | 36 | c.*65 others(47): Show |
SKIL | ENSG00000136603.15 | transcript | ENST00000259119.9 | protein_coding | 2170 | chr3 | TogoVar | ||||||
| SLA2_chr20_36607318_36651196 | 36609156 | T | TACACACA others(29): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG01975.hp1 HG03491.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005 | a0001c0001t0001g0130a0001c0001t0001g0256a0001c0001t0001g0267others(2): Show | 5 | 360 | 0.0139 | 36 | c.*46 others(47): Show |
SLA2 | ENSG00000101082.14 | transcript | ENST00000262866.9 | protein_coding | 3161 | chr20 | TogoVar | ||||||
| SLA2_chr20_36607318_36651196 | 36609156 | T | TACATACA others(29): Show |
downstream_gene_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0342 | 1 | 360 | 0.0028 | 36 | c.*47 others(47): Show |
SLA2 | ENSG00000101082.14 | transcript | ENST00000262866.9 | protein_coding | 3161 | chr20 | TogoVar | ||||||
| SLA2_chr20_36607318_36651196 | 36609156 | T | TACATACA others(29): Show |
downstream_gene_variant | MODIFIER | HG01123.hp2 HG02148.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141a0001c0001t0001g0315 | 2 | 360 | 0.0056 | 36 | c.*47 others(47): Show |
SLA2 | ENSG00000101082.14 | transcript | ENST00000262866.9 | protein_coding | 3161 | chr20 | TogoVar | ||||||
| SLA2_chr20_36607318_36651196 | 36609156 | T | TACATACA others(29): Show |
downstream_gene_variant | MODIFIER | HG01192.hp1 HG02040.hp1 HG02257.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180a0001c0001t0001g0184a0001c0001t0001g0212others(4): Show | 7 | 360 | 0.0194 | 36 | c.*47 others(47): Show |
SLA2 | ENSG00000101082.14 | transcript | ENST00000262866.9 | protein_coding | 3161 | chr20 | TogoVar |