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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SHROOM2_chrX_9781429_9954443 | 9875080 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02738.hp1 HG03669.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0045 a0001c0001t0001g0208 a0002c0002t0002g0221 |
3 | 13 | 0.2308 | 22 | c.317 others(39): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76503167 | C | CCACACAC others(15): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0004 | a0004c0004 | a0004c0004t0009 | a0004c0004t0009g0102 | 1 | 49 | 0.0204 | 22 | c.169 others(41): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76547932 | A | AACACACA others(15): Show |
intron_variant | MODIFIER | HG00423.hp1 NA18946.hp1 NA18950.hp1 |
a0002 | a0002c0003a0002c0043 | a0002c0003t0001a0002c0043t0001 | a0002c0003t0001g0006 a0002c0003t0001g0073 a0002c0043t0001g0012 |
3 | 38 | 0.0789 | 22 | c.169 others(39): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76605976 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0015 | a0015c0025 | a0015c0025t0006 | a0015c0025t0006g0095 | 1 | 216 | 0.0046 | 22 | c.323 others(41): 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(15): Show |
intron_variant | MODIFIER | HG02071.hp2 HG02074.hp2 HG02083.hp2 others(7): Show |
a0001a0003a0014others(1): Show | a0001c0015a0003c0002a0014c0016others(1): Show | a0001c0015t0009a0003c0002t0001a0003c0002t0003others(2): Show | a0001c0015t0009g0059 a0003c0002t0001g0011 a0003c0002t0001g0066 others(7): Show |
10 | 40 | 0.2500 | 22 | c.324 others(41): 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(15): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG01981.hp2 others(10): Show |
a0001a0002a0010others(1): Show | a0001c0001a0002c0003a0010c0014others(1): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0022others(4): Show | a0001c0001t0002g0001 a0001c0001t0002g0026 a0001c0001t0002g0038 others(10): Show |
13 | 41 | 0.3171 | 22 | c.324 others(41): 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(15): Show |
intron_variant | MODIFIER | HG02630.hp2 HG04115.hp2 |
a0020a0024 | a0020c0033a0024c0027 | a0020c0033t0007a0024c0027t0001 | a0020c0033t0007g0192 a0024c0027t0001g0126 |
2 | 111 | 0.0180 | 22 | c.324 others(41): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76733501 | C | CTGCAGCA others(15): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0163 | 1 | 216 | 0.0046 | 22 | c.587 others(39): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76735868 | A | AAAAAATA others(15): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02074.hp2 HG03579.hp2 |
a0003 | a0003c0002 | a0003c0002t0001a0003c0002t0003 | a0003c0002t0001g0022 a0003c0002t0001g0041 a0003c0002t0003g0212 |
3 | 152 | 0.0197 | 22 | c.588 others(39): 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(15): Show |
intron_variant | MODIFIER | HG02809.hp1 HG03209.hp1 HG03540.hp1 others(1): Show |
a0003a0005 | a0003c0004a0005c0006 | a0003c0004t0005a0003c0004t0006a0005c0006t0005others(1): Show | a0003c0004t0005g0125 a0003c0004t0006g0124 a0005c0006t0005g0040 others(1): Show |
4 | 104 | 0.0385 | 22 | c.295 others(41): Show |
SHROOM4 | ENSG00000158352.18 | transcript | ENST00000376020.9 | protein_coding | 5/8 | chrX | TogoVar | |||||||
SHROOM4_chrX_50581796_50819194 | 50610352 | T | TCTCTCTC others(15): Show |
intron_variant | MODIFIER | HG02055.hp1 NA21309.hp1 |
a0007 | a0007c0009 | a0007c0009t0001a0007c0009t0032 | a0007c0009t0001g0046 a0007c0009t0032g0081 |
2 | 102 | 0.0196 | 22 | c.295 others(41): Show |
SHROOM4 | ENSG00000158352.18 | transcript | ENST00000376020.9 | protein_coding | 5/8 | chrX | TogoVar | |||||||
SHROOM4_chrX_50581796_50819194 | 50723393 | G | GGAGGGAG others(15): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0003 | a0003c0012 | a0003c0012t0011 | a0003c0012t0011g0003 | 1 | 36 | 0.0278 | 22 | c.118 others(41): Show |
SHROOM4 | ENSG00000158352.18 | transcript | ENST00000376020.9 | protein_coding | 1/8 | chrX | TogoVar | |||||||
SHROOM4_chrX_50581796_50819194 | 50801261 | G | GGAGAGAG others(15): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0058 a0001c0001t0002g0172 |
2 | 54 | 0.0370 | 22 | c.117 others(41): Show |
SHROOM4 | ENSG00000158352.18 | transcript | ENST00000376020.9 | protein_coding | 1/8 | chrX | TogoVar | |||||||
SHROOM4_chrX_50581796_50819194 | 50801282 | G | GAGAGAGA others(15): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02258.hp1 |
a0002a0003 | a0002c0002a0003c0010 | a0002c0002t0001a0003c0010t0004 | a0002c0002t0001g0054 a0003c0010t0004g0053 |
2 | 173 | 0.0116 | 22 | c.117 others(41): Show |
SHROOM4 | ENSG00000158352.18 | transcript | ENST00000376020.9 | protein_coding | 1/8 | chrX | TogoVar | |||||||
SHTN1_chr10_116876477_117010187 | 116893576 | G | GCACACAC others(15): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00609.hp2 HG00735.hp2 others(60): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 others(59): Show |
63 | 64 | 0.9844 | 22 | c.167 others(41): Show |
SHTN1 | ENSG00000187164.20 | transcript | ENST00000355371.9 | protein_coding | 16/16 | chr10 | TogoVar | |||||||
SHTN1_chr10_116876477_117010187 | 116893576 | G | GCGCACAC others(15): Show |
intron_variant | MODIFIER | NA18612.hp1 NA18941.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0063 | a0001c0001t0005g0202 a0001c0001t0063g0055 |
2 | 3 | 0.6667 | 22 | c.167 others(41): Show |
SHTN1 | ENSG00000187164.20 | transcript | ENST00000355371.9 | protein_coding | 16/16 | chr10 | TogoVar | |||||||
SIAH1_chr16_48355531_48390413 | 48380928 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0072 | 1 | 5 | 0.2000 | 22 | c.-3+ others(37): Show |
SIAH1 | ENSG00000196470.12 | transcript | ENST00000394725.3 | protein_coding | 1/1 | chr16 | TogoVar | |||||||
SIAH3_chr13_45772242_45856753 | 45822520 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00741.hp2 HG03654.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0078 a0001c0001t0001g0265 a0001c0001t0003g0330 others(6): Show |
9 | 21 | 0.4286 | 22 | c.135 others(41): Show |
SIAH3 | ENSG00000215475.5 | transcript | ENST00000400405.4 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
SIAH3_chr13_45772242_45856753 | 45843032 | C | CTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00621.hp1 others(24): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0060 a0001c0001t0001g0265 a0001c0001t0001g0273 others(24): Show |
27 | 230 | 0.1174 | 22 | c.135 others(39): Show |
SIAH3 | ENSG00000215475.5 | transcript | ENST00000400405.4 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
SIAH3_chr13_45772242_45856753 | 45843034 | C | CTCTCTGT others(15): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0320 | 1 | 74 | 0.0135 | 22 | c.135 others(39): Show |
SIAH3 | ENSG00000215475.5 | transcript | ENST00000400405.4 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
SIAH3_chr13_45772242_45856753 | 45843034 | C | CTCTGTGT others(15): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0040 | 1 | 74 | 0.0135 | 22 | c.135 others(39): Show |
SIAH3 | ENSG00000215475.5 | transcript | ENST00000400405.4 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
SIDT1_chr3_113527555_113634575 | 113571486 | G | GCACACAC others(15): Show |
intron_variant | MODIFIER | HG02080.hp2 HG02523.hp2 HG04115.hp2 others(10): Show |
a0001a0007 | a0001c0002a0001c0007a0001c0023others(2): Show | a0001c0002t0001a0001c0007t0001a0001c0023t0001others(2): Show | a0001c0002t0001g0056 a0001c0002t0001g0078 a0001c0002t0001g0088 others(10): Show |
13 | 48 | 0.2708 | 22 | c.515 others(39): Show |
SIDT1 | ENSG00000072858.11 | transcript | ENST00000264852.9 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SIGLEC1_chr20_3681970_3717600 | 3690824 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0003 | a0003c0014 | a0003c0014t0001 | a0003c0014t0001g0113 | 1 | 417 | 0.0024 | 22 | c.459 others(39): Show |
SIGLEC1 | ENSG00000088827.14 | transcript | ENST00000344754.6 | protein_coding | 18/21 | chr20 | TogoVar | |||||||
SIK1_chr21_43409483_43432131 | 43410320 | T | TCTCCTTC others(15): Show |
downstream_gene_variant | MODIFIER | HG02735.hp2 | a0002 | a0002c0004 | a0002c0004t0009 | a0002c0004t0009g0011 | 1 | 9 | 0.1111 | 22 | c.*64 others(33): Show |
SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 4162 | chr21 | TogoVar | |||||||
SIK2_chr11_111597449_111735855 | 111612915 | G | GATATATA others(15): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0147 | 1 | 17 | 0.0588 | 22 | c.136 others(39): Show |
SIK2 | ENSG00000170145.5 | transcript | ENST00000304987.4 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SIK3_chr11_116838402_117103428 | 116842618 | C | CTTTTTTT others(15): Show |
downstream_gene_variant | MODIFIER | HG01258.hp1 HG02074.hp1 HG02559.hp2 others(13): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0002a0002c0003t0006a0002c0003t0007 | a0001c0002t0002g0003 a0001c0002t0002g0005 a0001c0002t0002g0012 others(13): Show |
16 | 146 | 0.1096 | 22 | c.*30 others(33): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 783 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 116855083 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0198 | 1 | 121 | 0.0083 | 22 | c.365 others(41): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 21/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 116915124 | A | ATGTGTGT others(15): Show |
intron_variant | MODIFIER | NA18973.hp1 NA18983.hp1 NA19054.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0022 | a0001c0001t0003g0149 a0001c0001t0003g0156 a0001c0001t0003g0167 others(1): Show |
4 | 174 | 0.0230 | 22 | c.616 others(41): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 4/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 117013901 | G | GGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0003 | a0003c0005 | a0003c0005t0004 | a0003c0005t0004g0042 | 1 | 320 | 0.0031 | 22 | c.274 others(41): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 117013912 | G | GTGTGTGT others(15): Show |
intron_variant | MODIFIER | NA18983.hp1 NA19064.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0155 a0001c0001t0003g0149 |
2 | 362 | 0.0055 | 22 | c.274 others(41): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 117013959 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227 | 1 | 364 | 0.0027 | 22 | c.274 others(41): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 117020246 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0137 | 1 | 229 | 0.0044 | 22 | c.274 others(41): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 117021928 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG01928.hp2 HG03579.hp1 |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0013t0001 | a0001c0001t0001g0224 a0001c0013t0001g0303 |
2 | 31 | 0.0645 | 22 | c.274 others(41): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 117023621 | A | AAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0024 | 1 | 199 | 0.0050 | 22 | c.274 others(41): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 117023621 | A | AAAAAAAA others(15): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0003 | 1 | 199 | 0.0050 | 22 | c.274 others(41): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 117023621 | A | AAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02559.hp2 NA18949.hp2 NA18970.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0005 a0001c0002t0002g0012 a0001c0002t0002g0014 others(3): Show |
6 | 204 | 0.0294 | 22 | c.274 others(41): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 117023621 | A | AAAAAATA others(15): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02027.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0008 a0001c0002t0002g0009 |
2 | 200 | 0.0100 | 22 | c.274 others(41): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 117023621 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0016 | a0016c0021 | a0016c0021t0005 | a0016c0021t0005g0173 | 1 | 199 | 0.0050 | 22 | c.274 others(41): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIL1_chr5_138941724_139203368 | 139058970 | A | ATGTGTGT others(15): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0103 | 1 | 102 | 0.0098 | 22 | c.245 others(39): Show |
SIL1 | ENSG00000120725.13 | transcript | ENST00000394817.7 | protein_coding | 3/9 | chr5 | TogoVar | |||||||
SIL1_chr5_138941724_139203368 | 139155448 | T | TGAGAGAG others(15): Show |
intron_variant | MODIFIER | HG01891.hp2 HG01943.hp2 HG01993.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0079 a0001c0001t0001g0088 a0001c0001t0001g0169 others(1): Show |
4 | 120 | 0.0333 | 22 | c.-10 others(41): Show |
SIL1 | ENSG00000120725.13 | transcript | ENST00000394817.7 | protein_coding | 1/9 | chr5 | TogoVar | |||||||
SIM1_chr6_100380009_100469921 | 100450696 | T | TCTCTCTC others(15): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0186 | 1 | 146 | 0.0068 | 22 | c.259 others(37): Show |
SIM1 | ENSG00000112246.10 | transcript | ENST00000369208.8 | protein_coding | 3/11 | chr6 | TogoVar | |||||||
SIM2_chr21_36694115_36754917 | 36737961 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01175.hp2 HG01255.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0004a0001c0001t0015a0001c0002t0002others(5): Show | a0001c0001t0004g0104 a0001c0001t0004g0316 a0001c0001t0015g0343 others(10): Show |
13 | 175 | 0.0743 | 22 | c.851 others(39): Show |
SIM2 | ENSG00000159263.16 | transcript | ENST00000290399.11 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
SIMC1_chr5_176233424_176350989 | 176329236 | C | CCGAGACT others(15): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 358 | 0.0028 | 22 | c.217 others(41): Show |
SIMC1 | ENSG00000170085.18 | transcript | ENST00000429602.7 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SIN3B_chr19_16824398_16885349 | 16857553 | G | GTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0259 | 1 | 188 | 0.0053 | 22 | c.105 others(41): Show |
SIN3B | ENSG00000127511.10 | transcript | ENST00000248054.10 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIPA1L1_chr14_71315476_71746209 | 71356567 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 29 | 0.0345 | 22 | c.-46 others(43): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SIPA1L1_chr14_71315476_71746209 | 71446894 | G | GTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0127 | 1 | 90 | 0.0111 | 22 | c.-46 others(43): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SIPA1L1_chr14_71315476_71746209 | 71502255 | A | AAAAAATA others(15): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 39 | 0.0256 | 22 | c.-46 others(43): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SIPA1L1_chr14_71315476_71746209 | 71742353 | C | CAAAAAAA others(15): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 a0001c0001t0001g0171 |
2 | 74 | 0.0270 | 22 | c.*31 others(33): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 1145 | chr14 | TogoVar | |||||||
SIPA1L2_chr1_232392965_232635133 | 232528102 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02451.hp2 HG02622.hp2 others(3): Show |
a0001a0002a0010others(1): Show | a0001c0003a0002c0008a0010c0022others(1): Show | a0001c0003t0004a0001c0003t0027a0002c0008t0004others(2): Show | a0001c0003t0004g0102 a0001c0003t0027g0291 a0002c0008t0004g0090 others(3): Show |
6 | 68 | 0.0882 | 22 | c.-26 others(43): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 2/22 | chr1 | TogoVar | |||||||
SIPA1L2_chr1_232392965_232635133 | 232631983 | C | CAAAAAAA others(15): Show |
upstream_gene_variant | MODIFIER | HG02559.hp2 HG03098.hp2 |
a0002a0008 | a0002c0006a0008c0014 | a0002c0006t0003a0008c0014t0013 | a0002c0006t0003g0281 a0008c0014t0013g0274 |
2 | 108 | 0.0185 | 22 | c.-24 others(33): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 1851 | chr1 | TogoVar |