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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SH3RF3_chr2_109124205_109509634 | 109458572 | C | CAGAGAGA others(21): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01258.hp1 HG02809.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0019a0001c0023others(1): Show | a0001c0001t0006a0001c0001t0015a0001c0001t0054others(3): Show | a0001c0001t0006g0034 a0001c0001t0015g0131 a0001c0001t0054g0107 others(3): Show |
6 | 55 | 0.1091 | 28 | c.214 others(47): Show |
SH3RF3 | ENSG00000172985.11 | transcript | ENST00000309415.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SH3TC2_chr5_148977150_149068062 | 149018459 | T | TCATGGCA others(21): Show |
intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0137 | 1 | 324 | 0.0031 | 28 | c.305 others(47): Show |
SH3TC2 | ENSG00000169247.14 | transcript | ENST00000515425.6 | protein_coding | 12/16 | chr5 | TogoVar | |||||||
SH3YL1_chr2_213144_269032 | 215327 | T | TACACACA others(21): Show |
downstream_gene_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0204 | 1 | 43 | 0.0233 | 28 | c.*34 others(39): Show |
SH3YL1 | ENSG00000035115.22 | transcript | ENST00000356150.10 | protein_coding | 2816 | chr2 | TogoVar | |||||||
SHANK1_chr19_50654255_50724802 | 50665737 | T | TAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG01891.hp1 HG03453.hp2 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0082a0001c0004t0010 | a0001c0003t0082g0174 a0001c0004t0010g0060 |
2 | 89 | 0.0225 | 28 | c.576 others(45): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | TogoVar | |||||||
SHANK1_chr19_50654255_50724802 | 50692456 | G | GATATATA others(21): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01243.hp1 HG02280.hp1 others(3): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0006a0001c0002t0014a0001c0003t0004others(3): Show | a0001c0002t0006g0238 a0001c0002t0014g0202 a0001c0003t0004g0100 others(3): Show |
6 | 272 | 0.0221 | 28 | c.196 others(47): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | TogoVar | |||||||
SHC2_chr19_411589_466033 | 439463 | C | CCTGTCTG others(21): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02486.hp1 HG03225.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0007others(1): Show | a0001c0001t0011a0001c0005t0006a0001c0007t0002others(2): Show | a0001c0001t0011g0034 a0001c0005t0006g0009 a0001c0007t0002g0077 others(2): Show |
5 | 210 | 0.0238 | 28 | c.540 others(43): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 2/12 | chr19 | TogoVar | |||||||
SHC4_chr15_48818741_48968919 | 48919295 | A | ATTTTTTT others(21): Show |
intron_variant | MODIFIER | HG00735.hp1 HG03098.hp1 HG03492.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0002g0033 a0001c0001t0002g0053 a0001c0001t0002g0085 others(6): Show |
9 | 53 | 0.1698 | 28 | c.656 others(45): Show |
SHC4 | ENSG00000185634.12 | transcript | ENST00000332408.9 | protein_coding | 2/11 | chr15 | TogoVar | |||||||
SHCBP1L_chr1_182894865_182958166 | 182924701 | G | GAAGAAAG others(21): Show |
intron_variant | MODIFIER | HG00642.hp1 NA18969.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 a0001c0001t0001g0208 |
2 | 126 | 0.0159 | 28 | c.118 others(47): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 6/9 | chr1 | TogoVar | |||||||
SHCBP1L_chr1_182894865_182958166 | 182924797 | A | AGAAAGAA others(21): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0056 | 1 | 275 | 0.0036 | 28 | c.118 others(47): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 6/9 | chr1 | TogoVar | |||||||
SHCBP1L_chr1_182894865_182958166 | 182924935 | G | GAAGAAAG others(21): Show |
intron_variant | MODIFIER | HG02886.hp1 NA18962.hp2 NA18973.hp2 others(5): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0002c0002t0001a0004c0004t0001 | a0001c0001t0001g0078 a0001c0001t0001g0245 a0002c0002t0001g0003 others(5): Show |
8 | 73 | 0.1096 | 28 | c.118 others(47): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 6/9 | chr1 | TogoVar | |||||||
SHCBP1L_chr1_182894865_182958166 | 182924935 | G | GAAGGAAG others(21): Show |
intron_variant | MODIFIER | HG01928.hp1 NA18983.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0268 a0002c0002t0001g0016 |
2 | 67 | 0.0299 | 28 | c.118 others(47): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 6/9 | chr1 | TogoVar | |||||||
SHCBP1L_chr1_182894865_182958166 | 182924935 | G | GAAGGAAG others(21): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0062 | 1 | 66 | 0.0152 | 28 | c.118 others(47): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 6/9 | chr1 | TogoVar | |||||||
SHD_chr19_4274266_4295722 | 4286322 | T | TCCTTCCT others(21): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0300 a0001c0001t0004g0304 |
2 | 442 | 0.0045 | 28 | c.716 others(45): Show |
SHD | ENSG00000105251.11 | transcript | ENST00000543264.7 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SHISA6_chr17_11236213_11569063 | 11277280 | T | TCTCTCTC others(21): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0120 | 1 | 82 | 0.0122 | 28 | c.799 others(47): Show |
SHISA6 | ENSG00000188803.15 | transcript | ENST00000441885.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 12970408 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0071 | a0001c0001t0071g0007 | 1 | 161 | 0.0062 | 28 | c.691 others(47): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 13019968 | T | TTTCCTTC others(21): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0066 | 1 | 73 | 0.0137 | 28 | c.691 others(49): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 13139394 | T | TTTCCTTC others(21): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0042 | 1 | 117 | 0.0085 | 28 | c.692 others(47): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 13139394 | T | TTTCCTTC others(21): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0024 | 1 | 117 | 0.0085 | 28 | c.692 others(47): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISAL1_chr22_44238665_44317951 | 44241646 | C | CTTTTTTT others(21): Show |
downstream_gene_variant | MODIFIER | HG02523.hp1 NA19087.hp2 |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0008 a0001c0002t0006g0109 |
2 | 163 | 0.0123 | 28 | c.*80 others(39): Show |
SHISAL1 | ENSG00000138944.8 | transcript | ENST00000381176.5 | protein_coding | 2018 | chr22 | TogoVar | |||||||
SHISAL1_chr22_44238665_44317951 | 44261077 | T | TTATATAT others(21): Show |
intron_variant | MODIFIER | HG00323.hp1 HG02135.hp1 HG03688.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0015a0001c0001t0044others(2): Show | a0001c0001t0001g0213 a0001c0001t0015g0286 a0001c0001t0044g0044 others(2): Show |
5 | 109 | 0.0459 | 28 | c.600 others(47): Show |
SHISAL1 | ENSG00000138944.8 | transcript | ENST00000381176.5 | protein_coding | 4/4 | chr22 | TogoVar | |||||||
SHISAL1_chr22_44238665_44317951 | 44284897 | G | GCCTGCCT others(21): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03209.hp2 |
a0001 | a0001c0002a0001c0008 | a0001c0002t0052a0001c0008t0011 | a0001c0002t0052g0128 a0001c0008t0011g0300 |
2 | 34 | 0.0588 | 28 | c.599 others(43): Show |
SHISAL1 | ENSG00000138944.8 | transcript | ENST00000381176.5 | protein_coding | 4/4 | chr22 | TogoVar | |||||||
SHISAL1_chr22_44238665_44317951 | 44284897 | G | GCCTGCCT others(21): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01070.hp2 HG01168.hp2 others(18): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(9): Show | a0001c0002t0001g0101 a0001c0002t0001g0151 a0001c0002t0001g0279 others(18): Show |
21 | 53 | 0.3962 | 28 | c.599 others(43): Show |
SHISAL1 | ENSG00000138944.8 | transcript | ENST00000381176.5 | protein_coding | 4/4 | chr22 | TogoVar | |||||||
SHISAL1_chr22_44238665_44317951 | 44284897 | G | GCCTGCCT others(21): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01070.hp1 HG01071.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0035a0001c0002t0002others(3): Show | a0001c0001t0003g0294 a0001c0001t0035g0015 a0001c0002t0002g0227 others(5): Show |
8 | 40 | 0.2000 | 28 | c.599 others(43): Show |
SHISAL1 | ENSG00000138944.8 | transcript | ENST00000381176.5 | protein_coding | 4/4 | chr22 | TogoVar | |||||||
SHISAL1_chr22_44238665_44317951 | 44284897 | G | GCCTTCCT others(21): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0257 | 1 | 33 | 0.0303 | 28 | c.599 others(43): Show |
SHISAL1 | ENSG00000138944.8 | transcript | ENST00000381176.5 | protein_coding | 4/4 | chr22 | TogoVar | |||||||
SHOC1_chr9_111681171_111799937 | 111781750 | A | AAATAAAT others(21): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01891.hp2 HG02717.hp2 others(2): Show |
a0008 | a0008c0009 | a0008c0009t0001 | a0008c0009t0001g0100 a0008c0009t0001g0101 a0008c0009t0001g0102 others(2): Show |
5 | 264 | 0.0189 | 28 | c.170 others(43): Show |
SHOC1 | ENSG00000165181.17 | transcript | ENST00000682961.1 | protein_coding | 3/27 | chr9 | TogoVar | |||||||
SHOC1_chr9_111681171_111799937 | 111781750 | A | AAATAAAT others(21): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01192.hp1 |
a0003a0008 | a0003c0003a0008c0009 | a0003c0003t0002a0008c0009t0001 | a0003c0003t0002g0108 a0008c0009t0001g0084 |
2 | 261 | 0.0077 | 28 | c.170 others(43): Show |
SHOC1 | ENSG00000165181.17 | transcript | ENST00000682961.1 | protein_coding | 3/27 | chr9 | TogoVar | |||||||
SHOX2_chr3_158090905_158111420 | 158106571 | C | CAGAGAGA others(21): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG01515.hp1 HG01884.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0002g0001 others(4): Show |
9 | 69 | 0.1304 | 28 | c.-57 others(37): Show |
SHOX2 | ENSG00000168779.21 | transcript | ENST00000483851.7 | protein_coding | 152 | chr3 | TogoVar | |||||||
SHOX_chrX_625791_656584 | 648889 | C | CTCCTTCC others(21): Show |
3_prime_UTR_variant | MODIFIER | HG01891.hp1 HG03516.hp1 NA21309.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0173a0001c0002t0169a0001c0002t0170 | a0001c0001t0173g0074 a0001c0002t0169g0124 a0001c0002t0170g0014 |
3 | 97 | 0.0309 | 28 | c.*42 others(39): 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(21): Show |
intron_variant | MODIFIER | HG01258.hp1 NA18999.hp2 NA19240.hp1 |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0005a0001c0001t0027a0004c0005t0001 | a0001c0001t0005g0259 a0001c0001t0027g0341 a0004c0005t0001g0025 |
3 | 292 | 0.0103 | 28 | c.168 others(43): Show |
SHPK | ENSG00000197417.9 | transcript | ENST00000225519.5 | protein_coding | 1/6 | chr17 | TogoVar | |||||||
SHQ1_chr3_72744277_72853445 | 72751508 | G | GTGTGTGT others(21): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0016 | 1 | 127 | 0.0079 | 28 | c.118 others(45): Show |
SHQ1 | ENSG00000144736.14 | transcript | ENST00000325599.13 | protein_coding | 10/10 | chr3 | TogoVar | |||||||
SHQ1_chr3_72744277_72853445 | 72751508 | G | GTGTGTGT others(21): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03098.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0014 a0002c0002t0001g0017 |
2 | 128 | 0.0156 | 28 | c.118 others(45): Show |
SHQ1 | ENSG00000144736.14 | transcript | ENST00000325599.13 | protein_coding | 10/10 | chr3 | TogoVar | |||||||
SHQ1_chr3_72744277_72853445 | 72765530 | C | CATACATA others(21): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0207 | 1 | 134 | 0.0075 | 28 | c.118 others(49): Show |
SHQ1 | ENSG00000144736.14 | transcript | ENST00000325599.13 | protein_coding | 10/10 | chr3 | TogoVar | |||||||
SHQ1_chr3_72744277_72853445 | 72765530 | C | CATATATA others(21): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 134 | 0.0075 | 28 | c.118 others(49): Show |
SHQ1 | ENSG00000144736.14 | transcript | ENST00000325599.13 | protein_coding | 10/10 | chr3 | TogoVar | |||||||
SHROOM3_chr4_76430229_76788253 | 76435125 | T | TTGTCAGG others(21): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(53): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0019a0002c0003others(14): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0012others(23): Show | a0001c0001t0002g0001 a0001c0001t0002g0009 a0001c0001t0002g0018 others(53): Show |
56 | 216 | 0.2593 | 28 | c.-92 others(37): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 103 | chr4 | TogoVar | |||||||
SHROOM3_chr4_76430229_76788253 | 76605934 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02055.hp2 |
a0003a0009 | a0003c0002a0009c0009 | a0003c0002t0001a0009c0009t0001 | a0003c0002t0001g0022 a0009c0009t0001g0027 |
2 | 216 | 0.0093 | 28 | c.323 others(47): 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(21): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0013 | a0013c0012 | a0013c0012t0006 | a0013c0012t0006g0043 | 1 | 31 | 0.0323 | 28 | c.324 others(47): 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(21): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01993.hp1 HG02040.hp1 others(9): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0003a0003c0002others(2): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0014others(4): Show | a0001c0001t0002g0018 a0001c0001t0002g0093 a0001c0001t0002g0105 others(9): Show |
12 | 40 | 0.3000 | 28 | c.324 others(47): 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(21): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0005 | a0005c0011 | a0005c0011t0002 | a0005c0011t0002g0045 | 1 | 29 | 0.0345 | 28 | c.324 others(47): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76735868 | A | AAAAAATA others(21): Show |
intron_variant | MODIFIER | HG02071.hp2 NA18964.hp1 |
a0003a0014 | a0003c0002a0014c0016 | a0003c0002t0003a0014c0016t0010 | a0003c0002t0003g0197 a0014c0016t0010g0160 |
2 | 151 | 0.0132 | 28 | c.588 others(45): 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(21): Show |
intron_variant | MODIFIER | NA18953.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0066 | 1 | 150 | 0.0067 | 28 | c.588 others(45): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM4_chrX_50581796_50819194 | 50618277 | C | CTCCTTCC others(21): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00621.hp1 HG01192.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0015others(1): Show | a0001c0001t0001g0026 a0001c0001t0001g0103 a0001c0001t0001g0108 others(7): Show |
10 | 50 | 0.2000 | 28 | c.295 others(47): Show |
SHROOM4 | ENSG00000158352.18 | transcript | ENST00000376020.9 | protein_coding | 5/8 | chrX | TogoVar | |||||||
SHROOM4_chrX_50581796_50819194 | 50618278 | C | CCCTTCCT others(21): Show |
intron_variant | MODIFIER | HG02717.hp1 HG06807.hp2 |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0002a0004c0005t0027 | a0001c0001t0002g0022 a0004c0005t0027g0005 |
2 | 75 | 0.0267 | 28 | c.295 others(47): Show |
SHROOM4 | ENSG00000158352.18 | transcript | ENST00000376020.9 | protein_coding | 5/8 | chrX | TogoVar | |||||||
SHROOM4_chrX_50581796_50819194 | 50801261 | G | GGAGAGAG others(21): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 53 | 0.0189 | 28 | c.117 others(47): Show |
SHROOM4 | ENSG00000158352.18 | transcript | ENST00000376020.9 | protein_coding | 1/8 | chrX | TogoVar | |||||||
SHTN1_chr10_116876477_117010187 | 116893576 | G | GCACACAC others(21): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00741.hp2 HG01943.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0011others(2): Show | a0001c0001t0001g0065 a0001c0001t0001g0075 a0001c0001t0001g0148 others(4): Show |
7 | 8 | 0.8750 | 28 | c.167 others(47): Show |
SHTN1 | ENSG00000187164.20 | transcript | ENST00000355371.9 | protein_coding | 16/16 | chr10 | TogoVar | |||||||
SHTN1_chr10_116876477_117010187 | 116893576 | G | GCGCACAC others(21): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0087 | 1 | 2 | 0.5000 | 28 | c.167 others(47): Show |
SHTN1 | ENSG00000187164.20 | transcript | ENST00000355371.9 | protein_coding | 16/16 | chr10 | TogoVar | |||||||
SIAH3_chr13_45772242_45856753 | 45822520 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 13 | 0.0769 | 28 | c.135 others(47): Show |
SIAH3 | ENSG00000215475.5 | transcript | ENST00000400405.4 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
SIAH3_chr13_45772242_45856753 | 45843032 | C | CTGTGTGT others(21): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02735.hp1 NA18944.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0252 a0001c0001t0002g0268 a0001c0001t0003g0021 others(1): Show |
4 | 207 | 0.0193 | 28 | c.135 others(45): Show |
SIAH3 | ENSG00000215475.5 | transcript | ENST00000400405.4 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
SIAH3_chr13_45772242_45856753 | 45843034 | C | CTCTCTGT others(21): Show |
intron_variant | MODIFIER | HG02155.hp2 HG02523.hp1 NA18979.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0061a0001c0001t0079 | a0001c0001t0002g0094 a0001c0001t0061g0348 a0001c0001t0079g0089 |
3 | 76 | 0.0395 | 28 | c.135 others(45): Show |
SIAH3 | ENSG00000215475.5 | transcript | ENST00000400405.4 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
SIDT1_chr3_113527555_113634575 | 113620025 | T | TTAGATAG others(21): Show |
intron_variant | MODIFIER | HG02148.hp2 NA18957.hp1 NA18961.hp1 others(3): Show |
a0001a0003 | a0001c0007a0001c0023a0001c0033others(1): Show | a0001c0007t0001a0001c0023t0001a0001c0033t0001others(1): Show | a0001c0007t0001g0040 a0001c0007t0001g0280 a0001c0023t0001g0242 others(3): Show |
6 | 310 | 0.0194 | 28 | c.209 others(45): Show |
SIDT1 | ENSG00000072858.11 | transcript | ENST00000264852.9 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SIGIRR_chr11_400716_419999 | 400994 | G | GCCCGCTC others(21): Show |
downstream_gene_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 137 | 0.0073 | 28 | c.*49 others(39): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 4721 | chr11 | TogoVar |