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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SHQ1_chr3_72744277_72853445 | 72852106 | C | CTCTCTCT others(17): Show |
upstream_gene_variant | MODIFIER | HG02809.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0202 | 1 | 136 | 0.0074 | 24 | c.-37 others(35): Show |
SHQ1 | ENSG00000144736.14 | transcript | ENST00000325599.13 | protein_coding | 3662 | chr3 | TogoVar | |||||||
SHROOM2_chrX_9781429_9954443 | 9784504 | C | CGCTGATT others(17): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(157): Show |
a0001a0002a0003others(31): Show | a0001c0001a0001c0003a0001c0007others(54): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0015others(70): Show | a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0111 others(157): Show |
160 | 253 | 0.6324 | 24 | c.-20 others(35): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1924 | chrX | TogoVar | |||||||
SHROOM2_chrX_9781429_9954443 | 9784508 | G | GATTGGTC others(17): Show |
upstream_gene_variant | MODIFIER | HG03209.hp1 HG06807.hp1 |
a0004a0036 | a0004c0016a0036c0074 | a0004c0016t0011a0036c0074t0003 | a0004c0016t0011g0175 a0036c0074t0003g0176 |
2 | 254 | 0.0079 | 24 | c.-20 others(35): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1920 | chrX | TogoVar | |||||||
SHROOM2_chrX_9781429_9954443 | 9815571 | C | CCTATATC others(17): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01346.hp1 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0012a0002c0047others(3): Show | a0001c0001t0001a0001c0012t0017a0002c0047t0002others(3): Show | a0001c0001t0001g0174 a0001c0012t0017g0062 a0002c0047t0002g0156 others(5): Show |
8 | 115 | 0.0696 | 24 | c.165 others(43): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHROOM2_chrX_9781429_9954443 | 9816580 | C | CCTGCTGC others(17): Show |
intron_variant | MODIFIER | HG00408.hp1 NA19056.hp1 |
a0001a0003 | a0001c0001a0003c0009 | a0001c0001t0001a0003c0009t0003 | a0001c0001t0001g0089 a0003c0009t0003g0154 |
2 | 61 | 0.0328 | 24 | c.165 others(43): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHROOM2_chrX_9781429_9954443 | 9875080 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG01070.hp1 HG02523.hp1 |
a0001a0007 | a0001c0001a0007c0015 | a0001c0001t0001a0007c0015t0003 | a0001c0001t0001g0185 a0007c0015t0003g0192 |
2 | 12 | 0.1667 | 24 | c.317 others(41): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHROOM2_chrX_9781429_9954443 | 9908944 | A | AAAATAAA others(17): Show |
intron_variant | MODIFIER | HG02132.hp1 HG02135.hp1 NA18940.hp1 others(5): Show |
a0001a0002a0012 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0013others(3): Show | a0001c0001t0001g0037 a0001c0001t0001g0150 a0001c0003t0001g0197 others(5): Show |
8 | 147 | 0.0544 | 24 | c.289 others(45): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76605956 | T | TATATACA others(17): Show |
intron_variant | MODIFIER | HG03486.hp1 NA18522.hp1 |
a0011a0013 | a0011c0037a0013c0012 | a0011c0037t0017a0013c0012t0006 | a0011c0037t0017g0176 a0013c0012t0006g0083 |
2 | 216 | 0.0093 | 24 | c.323 others(43): 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(17): Show |
intron_variant | MODIFIER | HG03209.hp2 HG03491.hp1 HG03492.hp2 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0015a0001c0019a0002c0003others(2): Show | a0001c0015t0009a0001c0019t0001a0002c0003t0001others(3): Show | a0001c0015t0009g0111 a0001c0019t0001g0030 a0002c0003t0001g0096 others(5): Show |
8 | 38 | 0.2105 | 24 | c.324 others(43): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76646225 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0003 | a0003c0002 | a0003c0002t0003 | a0003c0002t0003g0209 | 1 | 31 | 0.0323 | 24 | c.324 others(43): 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(17): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01928.hp2 HG02572.hp2 others(10): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0003a0003c0002others(3): Show | a0001c0001t0002a0002c0003t0001a0003c0002t0001others(3): Show | a0001c0001t0002g0023 a0001c0001t0002g0110 a0001c0001t0002g0112 others(10): Show |
13 | 41 | 0.3171 | 24 | c.324 others(43): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76704205 | T | TCCTATGA others(17): Show |
intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0140 | 1 | 216 | 0.0046 | 24 | 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 | 76735868 | A | AAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0086 | 1 | 150 | 0.0067 | 24 | c.588 others(41): 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(17): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0027 | a0027c0029 | a0027c0029t0003 | a0027c0029t0003g0190 | 1 | 150 | 0.0067 | 24 | c.588 others(41): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76735868 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0116 | 1 | 150 | 0.0067 | 24 | c.588 others(41): 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(17): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0003 | a0003c0004 | a0003c0004t0006 | a0003c0004t0006g0126 | 1 | 101 | 0.0099 | 24 | c.295 others(43): Show |
SHROOM4 | ENSG00000158352.18 | transcript | ENST00000376020.9 | protein_coding | 5/8 | chrX | TogoVar | |||||||
SHROOM4_chrX_50581796_50819194 | 50610352 | T | TCTCTCTC others(17): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0005 | a0005c0006 | a0005c0006t0005 | a0005c0006t0005g0100 | 1 | 101 | 0.0099 | 24 | c.295 others(43): Show |
SHROOM4 | ENSG00000158352.18 | transcript | ENST00000376020.9 | protein_coding | 5/8 | chrX | TogoVar | |||||||
SHROOM4_chrX_50581796_50819194 | 50618277 | C | CTCCTTCC others(17): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00609.hp1 HG01074.hp1 others(6): Show |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(1): Show | a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0065 others(6): Show |
9 | 49 | 0.1837 | 24 | c.295 others(43): Show |
SHROOM4 | ENSG00000158352.18 | transcript | ENST00000376020.9 | protein_coding | 5/8 | chrX | TogoVar | |||||||
SHROOM4_chrX_50581796_50819194 | 50618278 | C | CCCTTCCT others(17): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02280.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0063 a0001c0001t0002g0057 |
2 | 75 | 0.0267 | 24 | c.295 others(43): Show |
SHROOM4 | ENSG00000158352.18 | transcript | ENST00000376020.9 | protein_coding | 5/8 | chrX | TogoVar | |||||||
SHROOM4_chrX_50581796_50819194 | 50723393 | G | GGAGGGAG others(17): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0016 | a0016c0011 | a0016c0011t0030 | a0016c0011t0030g0002 | 1 | 36 | 0.0278 | 24 | c.118 others(43): Show |
SHROOM4 | ENSG00000158352.18 | transcript | ENST00000376020.9 | protein_coding | 1/8 | chrX | TogoVar | |||||||
SHTN1_chr10_116876477_117010187 | 116893576 | G | GCACACAC others(17): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00639.hp1 HG00741.hp1 others(57): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(15): Show | a0001c0001t0001g0002 a0001c0001t0001g0033 a0001c0001t0001g0039 others(53): Show |
60 | 61 | 0.9836 | 24 | c.167 others(43): Show |
SHTN1 | ENSG00000187164.20 | transcript | ENST00000355371.9 | protein_coding | 16/16 | chr10 | TogoVar | |||||||
SHTN1_chr10_116876477_117010187 | 116893576 | G | GCGCACAC others(17): Show |
intron_variant | MODIFIER | NA18941.hp2 NA18960.hp2 NA18961.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0055 | a0001c0001t0001g0003 a0001c0001t0055g0052 |
3 | 4 | 0.7500 | 24 | c.167 others(43): Show |
SHTN1 | ENSG00000187164.20 | transcript | ENST00000355371.9 | protein_coding | 16/16 | chr10 | TogoVar | |||||||
SHTN1_chr10_116876477_117010187 | 116946485 | T | TTTTATAT others(17): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0024 | 1 | 23 | 0.0435 | 24 | c.617 others(41): Show |
SHTN1 | ENSG00000187164.20 | transcript | ENST00000355371.9 | protein_coding | 7/16 | chr10 | TogoVar | |||||||
SHTN1_chr10_116876477_117010187 | 116946652 | G | GATTTATA others(17): Show |
intron_variant | MODIFIER | HG02145.hp1 HG04228.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0110 a0001c0001t0006g0034 |
2 | 62 | 0.0323 | 24 | c.617 others(41): Show |
SHTN1 | ENSG00000187164.20 | transcript | ENST00000355371.9 | protein_coding | 7/16 | chr10 | TogoVar | |||||||
SIAE_chr11_124628113_124678739 | 124636481 | A | ACGCGCCT others(17): Show |
3_prime_UTR_variant | MODIFIER | NA18984.hp1 NA19074.hp2 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0027 | 2 | 288 | 0.0069 | 24 | c.*44 others(33): Show |
SIAE | ENSG00000110013.13 | transcript | ENST00000263593.8 | protein_coding | 10/10 | 469 | chr11 | TogoVar | ||||||
SIAH3_chr13_45772242_45856753 | 45822520 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01069.hp1 HG01975.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0003g0303 a0001c0001t0004g0322 a0001c0001t0005g0075 others(3): Show |
6 | 18 | 0.3333 | 24 | c.135 others(43): Show |
SIAH3 | ENSG00000215475.5 | transcript | ENST00000400405.4 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
SIAH3_chr13_45772242_45856753 | 45843030 | C | CTGTGTGT others(17): Show |
intron_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 | 1 | 355 | 0.0028 | 24 | 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(17): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00438.hp1 others(42): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0054 a0001c0001t0001g0158 a0001c0001t0001g0166 others(42): Show |
45 | 248 | 0.1815 | 24 | c.135 others(41): Show |
SIAH3 | ENSG00000215475.5 | transcript | ENST00000400405.4 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
SIAH3_chr13_45772242_45856753 | 45843034 | C | CTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG02071.hp1 HG03831.hp1 NA18974.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0080others(1): Show | a0001c0001t0001g0185 a0001c0001t0002g0342 a0001c0001t0080g0160 others(1): Show |
4 | 77 | 0.0519 | 24 | c.135 others(41): Show |
SIAH3 | ENSG00000215475.5 | transcript | ENST00000400405.4 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
SIDT1_chr3_113527555_113634575 | 113571486 | G | GCACACAC others(17): Show |
intron_variant | MODIFIER | HG02135.hp1 HG04204.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0070 a0001c0002t0001g0201 |
2 | 37 | 0.0541 | 24 | c.515 others(41): Show |
SIDT1 | ENSG00000072858.11 | transcript | ENST00000264852.9 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SIGIRR_chr11_400716_419999 | 401785 | G | GGCTCCAC others(17): Show |
downstream_gene_variant | MODIFIER | HG00738.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0036 | 1 | 180 | 0.0056 | 24 | c.*41 others(35): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3930 | chr11 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 402045 | C | CCGCTCAC others(17): Show |
downstream_gene_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 207 | 0.0048 | 24 | c.*38 others(35): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3670 | chr11 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 402659 | G | GCCCCCGC others(17): Show |
downstream_gene_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 169 | 0.0059 | 24 | c.*32 others(35): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3056 | chr11 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 402661 | C | CCCGCTCA others(17): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 239 | 0.0042 | 24 | c.*32 others(35): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3054 | chr11 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 402665 | C | CTCACCCC others(17): Show |
downstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 163 | 0.0061 | 24 | c.*32 others(35): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3050 | chr11 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 404262 | C | CAGCATCC others(17): Show |
downstream_gene_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 240 | 0.0042 | 24 | c.*16 others(35): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 1453 | chr11 | TogoVar | |||||||
SIGLEC10_chr19_51405020_51422642 | 51405400 | C | CTTTTCTT others(17): Show |
downstream_gene_variant | MODIFIER | HG03130.hp2 | a0003 | a0003c0005 | a0003c0005t0004 | a0003c0005t0004g0111 | 1 | 171 | 0.0058 | 24 | c.*56 others(35): Show |
SIGLEC10 | ENSG00000142512.15 | transcript | ENST00000339313.10 | protein_coding | 4619 | chr19 | TogoVar | |||||||
SIGLEC8_chr19_51445997_51463454 | 51447589 | C | CTGCTGAT others(17): Show |
downstream_gene_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 450 | 0.0022 | 24 | c.*47 others(35): Show |
SIGLEC8 | ENSG00000105366.15 | transcript | ENST00000321424.7 | protein_coding | 3407 | chr19 | TogoVar | |||||||
SIK2_chr11_111597449_111735855 | 111612915 | G | GATATATA others(17): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0152 | 1 | 17 | 0.0588 | 24 | c.136 others(41): Show |
SIK2 | ENSG00000170145.5 | transcript | ENST00000304987.4 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SIK2_chr11_111597449_111735855 | 111628416 | A | ATCTTTCT others(17): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG01358.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0054 others(20): Show |
23 | 45 | 0.5111 | 24 | c.316 others(41): Show |
SIK2 | ENSG00000170145.5 | transcript | ENST00000304987.4 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SIK3_chr11_116838402_117103428 | 116842618 | C | CTTTTTTT others(17): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 HG02015.hp1 HG02717.hp1 others(10): Show |
a0002a0004a0013others(1): Show | a0002c0003a0004c0006a0013c0019others(1): Show | a0002c0003t0001a0002c0003t0006a0002c0003t0007others(3): Show | a0002c0003t0001g0355 a0002c0003t0006g0311 a0002c0003t0006g0314 others(10): Show |
13 | 143 | 0.0909 | 24 | c.*30 others(35): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 783 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 116844584 | A | ATATATAT others(17): Show |
3_prime_UTR_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0218 | 1 | 363 | 0.0028 | 24 | c.*10 others(35): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 25/25 | 1811 | chr11 | TogoVar | ||||||
SIK3_chr11_116838402_117103428 | 116915124 | A | ATGTGTGT others(17): Show |
intron_variant | MODIFIER | HG03195.hp2 NA18984.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0163 a0001c0001t0003g0172 |
2 | 172 | 0.0116 | 24 | c.616 others(43): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 4/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 117013903 | G | GGTGTGTG others(17): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0018 | 1 | 241 | 0.0041 | 24 | c.274 others(43): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 117013910 | G | GTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01243.hp1 NA18957.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0070 a0001c0001t0001g0150 a0001c0001t0001g0157 others(5): Show |
8 | 364 | 0.0220 | 24 | c.274 others(43): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 117016394 | G | GGGAAGGA others(17): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01433.hp1 HG02486.hp1 others(5): Show |
a0001a0005a0008 | a0001c0001a0005c0007a0008c0024 | a0001c0001t0001a0005c0007t0008a0008c0024t0001 | a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 others(5): Show |
8 | 67 | 0.1194 | 24 | c.274 others(43): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 117016394 | G | GGGAGGGA others(17): Show |
intron_variant | MODIFIER | HG02896.hp2 NA18906.hp1 |
a0001a0003 | a0001c0002a0003c0005 | a0001c0002t0004a0003c0005t0004 | a0001c0002t0004g0350 a0003c0005t0004g0351 |
2 | 61 | 0.0328 | 24 | c.274 others(43): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 117016394 | G | GGGAGGGA others(17): Show |
intron_variant | MODIFIER | HG03579.hp2 NA19043.hp2 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0045 a0001c0002t0004g0055 |
2 | 61 | 0.0328 | 24 | c.274 others(43): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 117016394 | G | GGGAGGGA others(17): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01243.hp1 NA18975.hp2 others(2): Show |
a0001a0018 | a0001c0001a0018c0022 | a0001c0001t0001a0001c0001t0003a0018c0022t0003 | a0001c0001t0001g0155 a0001c0001t0003g0147 a0001c0001t0003g0149 others(2): Show |
5 | 64 | 0.0781 | 24 | c.274 others(43): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 117020246 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0003 | a0003c0005 | a0003c0005t0004 | a0003c0005t0004g0041 | 1 | 229 | 0.0044 | 24 | c.274 others(43): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar |