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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SHOX2_chr3_158090905_158111420 | 158096909 | T | TATATATA others(25): Show |
3_prime_UTR_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0099 | a0001c0001t0099g0159 | 1 | 380 | 0.0026 | 32 | c.*11 others(43): Show |
SHOX2 | ENSG00000168779.21 | transcript | ENST00000483851.7 | protein_coding | 5/5 | 1117 | chr3 | TogoVar | |||||
SHOX2_chr3_158090905_158111420 | 158096924 | A | ATATATAT others(25): Show |
3_prime_UTR_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0102 | a0001c0001t0102g0198 | 1 | 380 | 0.0026 | 32 | c.*11 others(43): Show |
SHOX2 | ENSG00000168779.21 | transcript | ENST00000483851.7 | protein_coding | 5/5 | 1102 | chr3 | TogoVar | |||||
SHOX2_chr3_158090905_158111420 | 158106571 | C | CAGAGAGA others(25): Show |
upstream_gene_variant | MODIFIER | HG03579.hp1 | a0003 | a0003c0006 | a0003c0006t0044 | a0003c0006t0044g0073 | 1 | 380 | 0.0026 | 32 | c.-57 others(41): Show |
SHOX2 | ENSG00000168779.21 | transcript | ENST00000483851.7 | protein_coding | 152 | chr3 | TogoVar | ||||||
SHOX_chrX_625791_656584 | 648889 | C | CTCCTTCC others(25): Show |
3_prime_UTR_variant | MODIFIER | HG02109.hp1 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0090a0001c0001t0096 | a0001c0001t0090g0084a0001c0001t0096g0121 | 2 | 220 | 0.0091 | 32 | c.*42 others(43): Show |
SHOX | ENSG00000185960.15 | transcript | ENST00000686671.1 | protein_coding | 5/5 | 4275 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
SHPK_chr17_3603240_3641250 | 3635193 | T | TGAAGGAA others(25): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0258 | 1 | 382 | 0.0026 | 32 | c.168 others(47): Show |
SHPK | ENSG00000197417.9 | transcript | ENST00000225519.5 | protein_coding | 1/6 | chr17 | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76646225 | A | AATAAATA others(25): Show |
intron_variant | MODIFIER | HG01928.hp1 HG01978.hp1 HG02273.hp1 others(1): Show |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0001a0004c0004t0001 | a0002c0002t0001g0010a0002c0002t0001g0021a0002c0002t0001g0130others(1): Show | 4 | 218 | 0.0184 | 32 | c.324 others(51): 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(25): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0188 | 1 | 218 | 0.0046 | 32 | c.324 others(51): 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(25): Show |
intron_variant | MODIFIER | HG03139.hp2 HG03471.hp1 NA18974.hp1 |
a0017a0021a0022 | a0017c0046a0021c0030a0022c0034 | a0017c0046t0006a0021c0030t0001a0022c0034t0001 | a0017c0046t0006g0157a0021c0030t0001g0040a0022c0034t0001g0103 | 3 | 218 | 0.0138 | 32 | c.324 others(51): 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(25): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00642.hp1 HG01257.hp2 others(12): Show |
a0001a0002a0004others(4): Show | a0001c0001a0002c0002a0004c0004others(4): Show | a0001c0001t0002a0001c0001t0033a0002c0002t0001others(5): Show | a0001c0001t0002g0159a0001c0001t0033g0079a0002c0002t0001g0021others(12): Show | 15 | 218 | 0.0688 | 32 | c.324 others(51): 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(25): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0011 | a0011c0012 | a0011c0012t0006 | a0011c0012t0006g0046 | 1 | 218 | 0.0046 | 32 | c.324 others(51): 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(25): Show |
intron_variant | MODIFIER | HG04199.hp1 HG04204.hp1 NA19056.hp1 others(1): Show |
a0001a0007 | a0001c0001a0007c0007 | a0001c0001t0001a0001c0001t0009a0007c0007t0001 | a0001c0001t0001g0030a0001c0001t0001g0068a0001c0001t0009g0135others(1): Show | 4 | 175 | 0.0229 | 32 | c.295 others(51): Show |
SHROOM4 | ENSG00000158352.18 | transcript | ENST00000376020.9 | protein_coding | 5/8 | chrX | TogoVar | ||||||
SHTN1_chr10_116876477_117010187 | 116893576 | G | GCACACAC others(25): Show |
intron_variant | MODIFIER | HG01516.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0033 | a0001c0001t0001g0030a0001c0001t0033g0055 | 2 | 292 | 0.0069 | 32 | c.167 others(51): Show |
SHTN1 | ENSG00000187164.20 | transcript | ENST00000355371.9 | protein_coding | 16/16 | chr10 | TogoVar | ||||||
SHTN1_chr10_116876477_117010187 | 116893576 | G | GCACGCAC others(25): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0028 | a0001c0001t0006g0028a0001c0001t0028g0017 | 2 | 292 | 0.0069 | 32 | c.167 others(51): Show |
SHTN1 | ENSG00000187164.20 | transcript | ENST00000355371.9 | protein_coding | 16/16 | chr10 | TogoVar | ||||||
SIAH3_chr13_45772242_45856753 | 45826393 | A | ATGGTTGG others(25): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01070.hp2 HG01243.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0009others(12): Show | a0001c0001t0003g0028a0001c0001t0008g0106a0001c0001t0009g0029others(17): Show | 20 | 364 | 0.0550 | 32 | c.135 others(51): Show |
SIAH3 | ENSG00000215475.5 | transcript | ENST00000400405.4 | protein_coding | 1/1 | chr13 | TogoVar | ||||||
SIAH3_chr13_45772242_45856753 | 45826397 | A | ATGGTTGG others(25): Show |
intron_variant | MODIFIER | HG01952.hp1 HG02004.hp2 NA18969.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0012 | a0001c0001t0001g0203a0001c0001t0001g0204a0001c0001t0001g0205others(4): Show | 7 | 364 | 0.0192 | 32 | c.135 others(51): Show |
SIAH3 | ENSG00000215475.5 | transcript | ENST00000400405.4 | protein_coding | 1/1 | chr13 | TogoVar | ||||||
SIAH3_chr13_45772242_45856753 | 45843034 | C | CTCTCTGT others(25): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01167.hp2 HG01256.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0079others(7): Show | 10 | 364 | 0.0275 | 32 | c.135 others(49): Show |
SIAH3 | ENSG00000215475.5 | transcript | ENST00000400405.4 | protein_coding | 1/1 | chr13 | TogoVar | ||||||
SIDT1_chr3_113527555_113634575 | 113620025 | T | TTAGATAG others(25): Show |
intron_variant | MODIFIER | HG01952.hp1 HG02300.hp2 NA18969.hp1 others(1): Show |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0046a0001c0007t0001g0053a0001c0007t0001g0059others(1): Show | 4 | 318 | 0.0126 | 32 | c.209 others(49): Show |
SIDT1 | ENSG00000072858.11 | transcript | ENST00000264852.9 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SIGIRR_chr11_400716_419999 | 400883 | C | CACCCGCC others(25): Show |
downstream_gene_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 242 | 0.0041 | 32 | c.*50 others(43): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 4832 | chr11 | TogoVar | ||||||
SIGIRR_chr11_400716_419999 | 400887 | C | CGCCCCGC others(25): Show |
downstream_gene_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 242 | 0.0041 | 32 | c.*50 others(43): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 4828 | chr11 | TogoVar | ||||||
SIGIRR_chr11_400716_419999 | 400961 | A | ACCCGCCC others(25): Show |
downstream_gene_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 242 | 0.0041 | 32 | c.*49 others(43): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 4754 | chr11 | TogoVar | ||||||
SIGIRR_chr11_400716_419999 | 401213 | G | GCCCCGCT others(25): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 242 | 0.0041 | 32 | c.*46 others(43): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 4502 | chr11 | TogoVar | ||||||
SIGIRR_chr11_400716_419999 | 401552 | G | GCCCCGCT others(25): Show |
downstream_gene_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 242 | 0.0041 | 32 | c.*43 others(43): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 4163 | chr11 | TogoVar | ||||||
SIGIRR_chr11_400716_419999 | 402628 | C | CGGCTCCA others(25): Show |
downstream_gene_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220 | 1 | 242 | 0.0041 | 32 | c.*32 others(43): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3087 | chr11 | TogoVar | ||||||
SIGIRR_chr11_400716_419999 | 402659 | G | GCCCCGCT others(25): Show |
downstream_gene_variant | MODIFIER | HG03927.hp2 | a0007 | a0007c0014 | a0007c0014t0001 | a0007c0014t0001g0037 | 1 | 242 | 0.0041 | 32 | c.*32 others(43): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3056 | chr11 | TogoVar | ||||||
SIGIRR_chr11_400716_419999 | 403015 | C | CCCCGGAC others(25): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG00597.hp2 HG00735.hp2 others(21): Show |
a0001a0004a0005others(1): Show | a0001c0001a0004c0005a0005c0009others(1): Show | a0001c0001t0001a0001c0001t0003a0004c0005t0001others(2): Show | a0001c0001t0001g0007a0001c0001t0001g0043a0001c0001t0001g0047others(21): Show | 24 | 242 | 0.0992 | 32 | c.*28 others(43): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 2700 | chr11 | TogoVar | ||||||
SIK2_chr11_111597449_111735855 | 111628083 | T | TCCTCAGT others(25): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024 | 1 | 198 | 0.0051 | 32 | c.316 others(49): Show |
SIK2 | ENSG00000170145.5 | transcript | ENST00000304987.4 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
SIK2_chr11_111597449_111735855 | 111628416 | A | ATCTTTCT others(25): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01070.hp1 HG01257.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0011others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0023a0001c0001t0008g0039others(6): Show | 9 | 198 | 0.0455 | 32 | c.316 others(49): Show |
SIK2 | ENSG00000170145.5 | transcript | ENST00000304987.4 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
SIK3_chr11_116838402_117103428 | 116947120 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01069.hp1 HG01106.hp2 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0008 | a0002c0003t0001g0338a0002c0003t0001g0341a0002c0003t0001g0342others(1): Show | 4 | 366 | 0.0109 | 32 | c.454 others(49): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 3/24 | chr11 | TogoVar | ||||||
SIK3_chr11_116838402_117103428 | 117013902 | G | GTGTGTGT others(25): Show |
intron_variant | MODIFIER | HG02523.hp1 NA19087.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0027 | a0001c0001t0004g0117a0001c0001t0027g0136 | 2 | 366 | 0.0055 | 32 | c.274 others(51): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | ||||||
SIK3_chr11_116838402_117103428 | 117013904 | G | GTGTGTGT others(25): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0129 | 1 | 366 | 0.0027 | 32 | c.274 others(51): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | ||||||
SIK3_chr11_116838402_117103428 | 117016394 | G | GGGAAGGA others(25): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0097 | 1 | 366 | 0.0027 | 32 | c.274 others(51): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | ||||||
SIK3_chr11_116838402_117103428 | 117016394 | G | GGGAGGGA others(25): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0016 | a0016c0015 | a0016c0015t0002 | a0016c0015t0002g0106 | 1 | 366 | 0.0027 | 32 | c.274 others(51): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | ||||||
SIK3_chr11_116838402_117103428 | 117016394 | G | GGGAGGGA others(25): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0023 | 1 | 366 | 0.0027 | 32 | c.274 others(51): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | ||||||
SIK3_chr11_116838402_117103428 | 117016394 | G | GGGAGGGA others(25): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03490.hp2 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0111a0001c0001t0004g0112a0001c0001t0004g0139 | 3 | 366 | 0.0082 | 32 | c.274 others(51): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | ||||||
SIK3_chr11_116838402_117103428 | 117016394 | G | GGGAGGGA others(25): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02080.hp2 HG02129.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0026 | a0001c0001t0001g0047a0001c0001t0004g0046a0001c0001t0004g0114others(8): Show | 11 | 366 | 0.0301 | 32 | c.274 others(51): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | ||||||
SIK3_chr11_116838402_117103428 | 117016394 | G | GGGAGGGA others(25): Show |
intron_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0147 | 1 | 366 | 0.0027 | 32 | c.274 others(51): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | ||||||
SIK3_chr11_116838402_117103428 | 117020246 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01258.hp1 |
a0002 | a0002c0003 | a0002c0003t0009 | a0002c0003t0009g0315a0002c0003t0009g0316 | 2 | 366 | 0.0055 | 32 | c.274 others(51): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | ||||||
SIK3_chr11_116838402_117103428 | 117020246 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0026 | 1 | 366 | 0.0027 | 32 | c.274 others(51): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | ||||||
SIK3_chr11_116838402_117103428 | 117020246 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG01074.hp1 HG04199.hp1 NA18965.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0005 | a0001c0001t0004g0107a0001c0001t0004g0146a0001c0002t0005g0031 | 3 | 366 | 0.0082 | 32 | c.274 others(51): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | ||||||
SIK3_chr11_116838402_117103428 | 117021928 | C | CAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0264 | 1 | 366 | 0.0027 | 32 | c.274 others(51): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | ||||||
SIL1_chr5_138941724_139203368 | 139155448 | T | TGAGAGAG others(25): Show |
intron_variant | MODIFIER | HG01516.hp2 HG03942.hp1 NA18980.hp2 others(1): Show |
a0001a0009 | a0001c0001a0009c0013 | a0001c0001t0001a0009c0013t0001 | a0001c0001t0001g0046a0001c0001t0001g0058a0001c0001t0001g0062others(1): Show | 4 | 200 | 0.0200 | 32 | c.-10 others(51): Show |
SIL1 | ENSG00000120725.13 | transcript | ENST00000394817.7 | protein_coding | 1/9 | chr5 | TogoVar | ||||||
SINHCAF_chr12_31275584_31331150 | 31328401 | A | AAAAAAAA others(25): Show |
upstream_gene_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0304 | 1 | 349 | 0.0029 | 32 | c.-23 others(43): Show |
SINHCAF | ENSG00000139146.14 | transcript | ENST00000337682.9 | protein_coding | 2252 | chr12 | TogoVar | ||||||
SIPA1L1_chr14_71315476_71746209 | 71446894 | G | GTTTTTTT others(25): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0156 | 1 | 174 | 0.0058 | 32 | c.-46 others(53): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
SIPA1L2_chr1_232392965_232635133 | 232528102 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02486.hp1 HG03688.hp2 others(4): Show |
a0001a0002a0003 | a0001c0003a0001c0017a0002c0007others(2): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0006others(4): Show | a0001c0003t0001g0227a0001c0003t0002g0024a0001c0003t0006g0013others(4): Show | 7 | 292 | 0.0240 | 32 | c.-26 others(53): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 2/22 | chr1 | TogoVar | ||||||
SIPA1L3_chr19_37902208_38213369 | 37937741 | C | CAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0025 | a0025c0037 | a0025c0037t0001 | a0025c0037t0001g0129 | 1 | 164 | 0.0061 | 32 | c.-37 others(53): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
SIPA1L3_chr19_37902208_38213369 | 37968063 | C | CTCTTTCT others(25): Show |
intron_variant | MODIFIER | HG01952.hp1 HG02132.hp2 HG02148.hp1 others(4): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0003t0004others(3): Show | a0001c0001t0001g0113a0001c0001t0001g0134a0001c0001t0006g0024others(4): Show | 7 | 164 | 0.0427 | 32 | c.-37 others(53): 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(25): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0015 | a0002c0015t0018 | a0002c0015t0018g0108 | 1 | 164 | 0.0061 | 32 | c.-31 others(51): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
SIRPB1_chr20_1556385_1625009 | 1559135 | G | GTATATAT others(25): Show |
downstream_gene_variant | MODIFIER | HG01106.hp1 | a0004 | a0004c0004 | a0004c0004t0005 | a0004c0004t0005g0006 | 1 | 364 | 0.0028 | 32 | c.*63 others(43): Show |
SIRPB1 | ENSG00000101307.16 | transcript | ENST00000381605.9 | protein_coding | 2249 | chr20 | TogoVar | ||||||
SIRPD_chr20_1529251_1562705 | 1559135 | G | GTATATAT others(25): Show |
upstream_gene_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0147 | 1 | 390 | 0.0026 | 32 | c.-14 others(43): Show |
SIRPD | ENSG00000125900.13 | transcript | ENST00000381623.4 | protein_coding | 1431 | chr20 | TogoVar | ||||||
SIRPG_chr20_1624152_1662779 | 1650002 | G | GTATATAT others(25): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG01070.hp2 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003a0002c0002t0007 | a0002c0002t0001g0121a0002c0002t0003g0009a0002c0002t0003g0071others(4): Show | 10 | 396 | 0.0253 | 32 | c.74- others(45): Show |
SIRPG | ENSG00000089012.14 | transcript | ENST00000303415.7 | protein_coding | 1/5 | chr20 | TogoVar |