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 | 9816580 | C | CCTGCTGC others(11): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(30): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0002c0002others(11): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0002others(11): Show | a0001c0001t0001g0018 a0001c0001t0001g0043 a0001c0001t0001g0048 others(30): Show |
33 | 256 | 0.1289 | 18 | c.165 others(37): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHROOM2_chrX_9781429_9954443 | 9833608 | C | CTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00642.hp1 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(2): Show | a0001c0001t0001a0002c0002t0002a0003c0004t0003others(2): Show | a0001c0001t0001g0018 a0001c0001t0001g0062 a0001c0001t0001g0100 others(7): Show |
10 | 256 | 0.0391 | 18 | c.166 others(37): 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(11): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01192.hp1 HG02080.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0048 a0001c0001t0001g0110 others(1): Show |
4 | 256 | 0.0156 | 18 | c.317 others(35): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHROOM2_chrX_9781429_9954443 | 9897680 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01106.hp1 HG03486.hp2 NA20129.hp1 |
a0009a0010 | a0009c0020a0010c0054 | a0009c0020t0004a0010c0054t0002 | a0009c0020t0004g0235 a0009c0020t0004g0243 a0010c0054t0002g0239 |
3 | 256 | 0.0117 | 18 | c.279 others(35): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHROOM2_chrX_9781429_9954443 | 9912107 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0003 | a0003c0009 | a0003c0009t0004 | a0003c0009t0004g0247 | 1 | 256 | 0.0039 | 18 | c.289 others(39): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76460827 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0002 | a0002c0003 | a0002c0003t0014 | a0002c0003t0014g0187 | 1 | 218 | 0.0046 | 18 | c.168 others(37): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76503167 | C | CCACACAC others(11): Show |
intron_variant | MODIFIER | HG01934.hp2 HG01943.hp2 HG03654.hp1 others(7): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0003a0003c0002others(3): Show | a0001c0001t0002a0002c0003t0001a0002c0003t0007others(4): Show | a0001c0001t0002g0165 a0002c0003t0001g0162 a0002c0003t0007g0148 others(7): Show |
10 | 218 | 0.0459 | 18 | c.169 others(37): 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(11): Show |
intron_variant | MODIFIER | HG01978.hp2 HG02451.hp1 HG02615.hp1 others(6): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0015a0002c0003others(4): Show | a0001c0001t0002a0001c0015t0009a0002c0003t0001others(4): Show | a0001c0001t0002g0009 a0001c0015t0009g0059 a0001c0015t0009g0111 others(6): Show |
9 | 218 | 0.0413 | 18 | c.169 others(35): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76646225 | A | AATAAATA others(11): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 |
a0005 | a0005c0013 | a0005c0013t0001a0005c0013t0031 | a0005c0013t0001g0109 a0005c0013t0031g0061 |
2 | 218 | 0.0092 | 18 | c.324 others(37): 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(11): Show |
intron_variant | MODIFIER | HG02615.hp1 NA18967.hp2 NA18968.hp2 others(2): Show |
a0001a0015 | a0001c0001a0015c0025 | a0001c0001t0002a0001c0001t0008a0015c0025t0006 | a0001c0001t0002g0087 a0001c0001t0002g0166 a0001c0001t0002g0167 others(2): Show |
5 | 218 | 0.0229 | 18 | c.324 others(37): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76651401 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0067 | 1 | 218 | 0.0046 | 18 | c.324 others(37): 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(11): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01243.hp2 HG01257.hp1 others(25): Show |
a0001a0002a0004others(7): Show | a0001c0001a0002c0003a0002c0045others(8): Show | a0001c0001t0002a0002c0003t0001a0002c0003t0003others(11): Show | a0001c0001t0002g0042 a0001c0001t0002g0115 a0002c0003t0001g0002 others(25): Show |
28 | 218 | 0.1284 | 18 | c.324 others(37): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76727887 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01070.hp2 HG01256.hp1 others(16): Show |
a0004a0006a0008others(3): Show | a0004c0004a0004c0008a0006c0005others(4): Show | a0004c0004t0001a0004c0004t0032a0004c0008t0001others(7): Show | a0004c0004t0001g0135 a0004c0004t0001g0154 a0004c0004t0032g0208 others(16): Show |
19 | 218 | 0.0872 | 18 | c.456 others(35): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76735868 | A | AAAAAATA others(11): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0024 | a0024c0027 | a0024c0027t0001 | a0024c0027t0001g0126 | 1 | 218 | 0.0046 | 18 | c.588 others(35): 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(11): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0014 | a0014c0016 | a0014c0016t0001 | a0014c0016t0001g0099 | 1 | 218 | 0.0046 | 18 | c.588 others(35): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM4_chrX_50581796_50819194 | 50593612 | A | AAAGACAG others(11): Show |
3_prime_UTR_variant | MODIFIER | HG01081.hp2 HG02647.hp1 HG02886.hp1 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0006a0002c0002t0044a0003c0004t0006others(1): Show | a0001c0001t0006g0129 a0002c0002t0044g0041 a0003c0004t0006g0042 others(5): Show |
8 | 175 | 0.0457 | 18 | c.*30 others(29): Show |
SHROOM4 | ENSG00000158352.18 | transcript | ENST00000376020.9 | protein_coding | 9/9 | 3082 | chrX | TogoVar | ||||||
SHROOM4_chrX_50581796_50819194 | 50610352 | T | TCTCTCTC others(11): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0003 | a0003c0021 | a0003c0021t0005 | a0003c0021t0005g0040 | 1 | 175 | 0.0057 | 18 | c.295 others(37): Show |
SHROOM4 | ENSG00000158352.18 | transcript | ENST00000376020.9 | protein_coding | 5/8 | chrX | TogoVar | |||||||
SHROOM4_chrX_50581796_50819194 | 50801261 | G | GGAGAGAG others(11): Show |
intron_variant | MODIFIER | HG01943.hp1 HG02132.hp1 HG02300.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0009a0002c0003t0001 | a0001c0001t0001g0066 a0001c0001t0001g0146 a0001c0001t0001g0147 others(3): Show |
6 | 175 | 0.0343 | 18 | c.117 others(37): Show |
SHROOM4 | ENSG00000158352.18 | transcript | ENST00000376020.9 | protein_coding | 1/8 | chrX | TogoVar | |||||||
SHTN1_chr10_116876477_117010187 | 116893576 | G | GCACACAC others(11): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01123.hp1 HG01168.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0072 a0001c0001t0002g0182 a0001c0001t0002g0211 others(17): Show |
20 | 292 | 0.0685 | 18 | c.167 others(37): Show |
SHTN1 | ENSG00000187164.20 | transcript | ENST00000355371.9 | protein_coding | 16/16 | chr10 | TogoVar | |||||||
SHTN1_chr10_116876477_117010187 | 116893576 | G | GCGCACAC others(11): Show |
intron_variant | MODIFIER | HG00408.hp2 NA18956.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0202 a0001c0001t0005g0243 |
2 | 292 | 0.0069 | 18 | c.167 others(37): Show |
SHTN1 | ENSG00000187164.20 | transcript | ENST00000355371.9 | protein_coding | 16/16 | chr10 | TogoVar | |||||||
SHTN1_chr10_116876477_117010187 | 116899506 | G | GGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0002 | a0001c0002t0026 | a0001c0002t0026g0143 | 1 | 292 | 0.0034 | 18 | c.167 others(37): Show |
SHTN1 | ENSG00000187164.20 | transcript | ENST00000355371.9 | protein_coding | 16/16 | chr10 | TogoVar | |||||||
SHTN1_chr10_116876477_117010187 | 116977662 | C | CTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0139 a0001c0001t0015g0147 a0001c0001t0015g0148 |
3 | 292 | 0.0103 | 18 | c.111 others(35): Show |
SHTN1 | ENSG00000187164.20 | transcript | ENST00000355371.9 | protein_coding | 2/16 | chr10 | TogoVar | |||||||
SIAH1_chr16_48355531_48390413 | 48380928 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00558.hp2 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 a0001c0001t0001g0164 |
2 | 256 | 0.0078 | 18 | c.-3+ others(33): Show |
SIAH1 | ENSG00000196470.12 | transcript | ENST00000394725.3 | protein_coding | 1/1 | chr16 | TogoVar | |||||||
SIAH1_chr16_48355531_48390413 | 48384888 | G | GCCGGGCC others(11): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 256 | 0.0039 | 18 | c.-3+ others(31): Show |
SIAH1 | ENSG00000196470.12 | transcript | ENST00000394725.3 | protein_coding | 1/1 | chr16 | TogoVar | |||||||
SIAH2_chr3_150736125_150768169 | 150745240 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0168 | 1 | 346 | 0.0029 | 18 | c.418 others(35): Show |
SIAH2 | ENSG00000181788.4 | transcript | ENST00000312960.4 | protein_coding | 1/1 | chr3 | TogoVar | |||||||
SIAH3_chr13_45772242_45856753 | 45822520 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00741.hp1 HG01074.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0052 a0001c0001t0001g0090 a0001c0001t0001g0204 others(20): Show |
23 | 364 | 0.0632 | 18 | c.135 others(37): Show |
SIAH3 | ENSG00000215475.5 | transcript | ENST00000400405.4 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
SIAH3_chr13_45772242_45856753 | 45843032 | C | CTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG02165.hp2 HG03688.hp1 |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0098 | a0001c0001t0019g0020 a0001c0001t0098g0229 |
2 | 364 | 0.0055 | 18 | c.135 others(35): Show |
SIAH3 | ENSG00000215475.5 | transcript | ENST00000400405.4 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
SIAH3_chr13_45772242_45856753 | 45843034 | C | CTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02615.hp1 HG02895.hp2 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0024a0001c0001t0027 | a0001c0001t0009g0231 a0001c0001t0024g0230 a0001c0001t0027g0235 |
3 | 364 | 0.0082 | 18 | c.135 others(35): Show |
SIAH3 | ENSG00000215475.5 | transcript | ENST00000400405.4 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
SIAH3_chr13_45772242_45856753 | 45847622 | C | CGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0084 | a0001c0001t0084g0053 | 1 | 364 | 0.0028 | 18 | c.135 others(35): Show |
SIAH3 | ENSG00000215475.5 | transcript | ENST00000400405.4 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
SIDT1_chr3_113527555_113634575 | 113571486 | G | GCACACAC others(11): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00558.hp1 others(37): Show |
a0001a0003 | a0001c0002a0001c0004a0001c0007others(1): Show | a0001c0002t0001a0001c0004t0001a0001c0007t0001others(1): Show | a0001c0002t0001g0011 a0001c0002t0001g0034 a0001c0002t0001g0036 others(37): Show |
40 | 318 | 0.1258 | 18 | c.515 others(35): Show |
SIDT1 | ENSG00000072858.11 | transcript | ENST00000264852.9 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SIGIRR_chr11_400716_419999 | 401397 | C | CCGCCCCG others(11): Show |
downstream_gene_variant | MODIFIER | HG03927.hp2 | a0008 | a0008c0013 | a0008c0013t0001 | a0008c0013t0001g0037 | 1 | 242 | 0.0041 | 18 | c.*44 others(29): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 4318 | chr11 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 401407 | A | ACCCCCGG others(11): Show |
downstream_gene_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 242 | 0.0041 | 18 | c.*44 others(29): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 4308 | chr11 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 402937 | A | ACCCCCCG others(11): Show |
downstream_gene_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 242 | 0.0041 | 18 | c.*29 others(29): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 2778 | chr11 | TogoVar | |||||||
SIGLEC14_chr19_51634478_51651825 | 51645699 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | NA18957.hp1 NA18979.hp1 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0030 | a0001c0002t0003g0108 a0001c0002t0030g0109 |
2 | 300 | 0.0067 | 18 | c.700 others(31): Show |
SIGLEC14 | ENSG00000254415.4 | transcript | ENST00000360844.7 | protein_coding | 3/6 | chr19 | TogoVar | |||||||
SIGLEC1_chr20_3681970_3717600 | 3690824 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0003 | a0003c0036 | a0003c0036t0001 | a0003c0036t0001g0106 | 1 | 428 | 0.0023 | 18 | c.459 others(35): Show |
SIGLEC1 | ENSG00000088827.14 | transcript | ENST00000344754.6 | protein_coding | 18/21 | chr20 | TogoVar | |||||||
SIGLEC1_chr20_3681970_3717600 | 3696125 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0005 | a0005c0006 | a0005c0006t0006 | a0005c0006t0006g0233 | 1 | 428 | 0.0023 | 18 | c.268 others(35): Show |
SIGLEC1 | ENSG00000088827.14 | transcript | ENST00000344754.6 | protein_coding | 11/21 | chr20 | TogoVar | |||||||
SIGLEC5_chr19_51605960_51635401 | 51612090 | A | ATCATCTG others(11): Show |
3_prime_UTR_variant | MODIFIER | NA18997.hp2 | a0008 | a0008c0019 | a0008c0019t0025 | a0008c0019t0025g0056 | 1 | 414 | 0.0024 | 18 | c.*14 others(27): Show |
SIGLEC5 | ENSG00000268500.7 | transcript | ENST00000683636.1 | protein_coding | 9/9 | 140 | chr19 | TogoVar | ||||||
SIK2_chr11_111597449_111735855 | 111598413 | G | GGTGTGTG others(11): Show |
upstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0005 | 1 | 198 | 0.0051 | 18 | c.-41 others(29): Show |
SIK2 | ENSG00000170145.5 | transcript | ENST00000304987.4 | protein_coding | 4035 | chr11 | TogoVar | |||||||
SIK2_chr11_111597449_111735855 | 111612915 | G | GATATATA others(11): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01884.hp1 HG02109.hp2 others(2): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0003a0001c0001t0028a0001c0001t0063others(1): Show | a0001c0001t0003g0159 a0001c0001t0003g0167 a0001c0001t0028g0098 others(2): Show |
5 | 198 | 0.0253 | 18 | c.136 others(35): Show |
SIK2 | ENSG00000170145.5 | transcript | ENST00000304987.4 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SIK2_chr11_111597449_111735855 | 111612938 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0002 | a0002c0005 | a0002c0005t0018 | a0002c0005t0018g0101 | 1 | 198 | 0.0051 | 18 | c.136 others(35): Show |
SIK2 | ENSG00000170145.5 | transcript | ENST00000304987.4 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SIK3_chr11_116838402_117103428 | 116915124 | A | ATGTGTGT others(11): Show |
intron_variant | MODIFIER | HG02129.hp1 HG02622.hp1 HG02717.hp2 others(6): Show |
a0001a0002a0011 | a0001c0001a0002c0003a0011c0015 | a0001c0001t0002a0001c0001t0004a0002c0003t0007others(1): Show | a0001c0001t0002g0104 a0001c0001t0004g0046 a0001c0001t0004g0111 others(6): Show |
9 | 366 | 0.0246 | 18 | c.616 others(37): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 4/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 116965734 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0003 | a0003c0005 | a0003c0005t0005 | a0003c0005t0005g0020 | 1 | 366 | 0.0027 | 18 | c.274 others(35): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 116965734 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG02615.hp1 HG03540.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0015 | a0001c0001t0002g0275 a0001c0002t0015g0033 |
2 | 366 | 0.0055 | 18 | c.274 others(35): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 117013901 | G | GGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0105 | 1 | 366 | 0.0027 | 18 | c.274 others(37): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 117013972 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0073 | 1 | 366 | 0.0027 | 18 | c.274 others(37): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 117021928 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | NA18979.hp2 NA19088.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227 a0001c0001t0001g0229 |
2 | 366 | 0.0055 | 18 | c.274 others(37): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 117023621 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0004 | 1 | 366 | 0.0027 | 18 | c.274 others(37): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 117028962 | A | ACCAAGGC others(11): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(135): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0002c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(21): Show | a0001c0001t0001g0047 a0001c0001t0001g0164 a0001c0001t0001g0330 others(135): Show |
138 | 366 | 0.3771 | 18 | c.273 others(37): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIL1_chr5_138941724_139203368 | 139057314 | T | TTAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01070.hp1 HG01071.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0001a0001c0002t0001a0001c0010t0001 | a0001c0001t0001g0003 a0001c0001t0001g0030 a0001c0001t0001g0044 others(18): Show |
21 | 200 | 0.1050 | 18 | c.245 others(35): Show |
SIL1 | ENSG00000120725.13 | transcript | ENST00000394817.7 | protein_coding | 3/9 | chr5 | TogoVar | |||||||
SIL1_chr5_138941724_139203368 | 139058970 | A | ATGTGTGT others(11): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02630.hp1 HG02738.hp1 others(3): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0004c0007t0001 | a0001c0001t0001g0044 a0001c0001t0001g0062 a0001c0001t0001g0168 others(3): Show |
6 | 200 | 0.0300 | 18 | c.245 others(35): Show |
SIL1 | ENSG00000120725.13 | transcript | ENST00000394817.7 | protein_coding | 3/9 | chr5 | TogoVar |