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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SOAT1_chr1_179288797_179363680 | 179331019 | GTTGACAA others(11): Show |
G | intron_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0012 | a0001c0012t0062 | a0001c0012t0062g0067 | 1 | 380 | 0.0026 | -18 | c.178 others(35): Show |
SOAT1 | ENSG00000057252.13 | transcript | ENST00000367619.8 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SOAT1_chr1_179288797_179363680 | 179348760 | ATGTGTGT others(11): Show |
A | intron_variant | MODIFIER | HG02976.hp1 NA19030.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0074a0001c0004t0042 | a0001c0001t0074g0133 a0001c0004t0042g0079 |
2 | 16 | 0.1250 | -18 | c.121 others(33): Show |
SOAT1 | ENSG00000057252.13 | transcript | ENST00000367619.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SOBP_chr6_107485117_107666306 | 107521909 | AACACACA others(11): Show |
A | intron_variant | MODIFIER | HG02132.hp2 HG03490.hp2 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0004g0245 |
3 | 42 | 0.0714 | -18 | c.422 others(37): Show |
SOBP | ENSG00000112320.12 | transcript | ENST00000317357.10 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SOBP_chr6_107485117_107666306 | 107656325 | AAGAAAGA others(11): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG01243.hp2 others(12): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0215 others(12): Show |
15 | 270 | 0.0556 | -18 | c.*4- others(33): Show |
SOBP | ENSG00000112320.12 | transcript | ENST00000317357.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SOGA1_chr20_36772447_36868538 | 36837546 | ACATTATT others(11): Show |
A | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0069 a0001c0002t0003g0070 |
2 | 237 | 0.0084 | -18 | c.912 others(35): Show |
SOGA1 | ENSG00000149639.15 | transcript | ENST00000237536.9 | protein_coding | 2/14 | chr20 | TogoVar | |||||||
SOGA1_chr20_36772447_36868538 | 36853702 | GGTGTGTG others(11): Show |
G | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0141 | 1 | 49 | 0.0204 | -18 | c.687 others(35): Show |
SOGA1 | ENSG00000149639.15 | transcript | ENST00000237536.9 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
SOGA1_chr20_36772447_36868538 | 36856851 | TGTGTGTG others(11): Show |
T | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0017 a0001c0001t0003g0018 |
2 | 280 | 0.0071 | -18 | c.687 others(35): Show |
SOGA1 | ENSG00000149639.15 | transcript | ENST00000237536.9 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
SOGA1_chr20_36772447_36868538 | 36858311 | AACACACA others(11): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02970.hp2 |
a0005 | a0005c0013 | a0005c0013t0018 | a0005c0013t0018g0009 a0005c0013t0018g0010 |
2 | 135 | 0.0148 | -18 | c.687 others(35): Show |
SOGA1 | ENSG00000149639.15 | transcript | ENST00000237536.9 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
SOGA1_chr20_36772447_36868538 | 36858461 | AAAACACA others(11): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01081.hp2 HG01099.hp2 others(22): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0022a0001c0001t0039others(10): Show | a0001c0001t0001g0034 a0001c0001t0001g0056 a0001c0001t0022g0007 others(22): Show |
25 | 213 | 0.1174 | -18 | c.687 others(35): Show |
SOGA1 | ENSG00000149639.15 | transcript | ENST00000237536.9 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
SON_chr21_33538038_33582481 | 33577604 | TACACACA others(11): Show |
T | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG01261.hp2 others(11): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0022 others(11): Show |
14 | 72 | 0.1944 | -18 | c.*11 others(29): Show |
SON | ENSG00000159140.23 | transcript | ENST00000356577.10 | protein_coding | 124 | chr21 | TogoVar | |||||||
SON_chr21_33538038_33582481 | 33577685 | ACACACAC others(11): Show |
A | downstream_gene_variant | MODIFIER | NA19011.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0027 | 1 | 361 | 0.0028 | -18 | c.*12 others(29): Show |
SON | ENSG00000159140.23 | transcript | ENST00000356577.10 | protein_coding | 205 | chr21 | TogoVar | |||||||
SON_chr21_33538038_33582481 | 33580463 | CAAAAAAA others(11): Show |
C | downstream_gene_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0045 | a0001c0045t0005 | a0001c0045t0005g0146 | 1 | 9 | 0.1111 | -18 | c.*40 others(29): Show |
SON | ENSG00000159140.23 | transcript | ENST00000356577.10 | protein_coding | 2983 | chr21 | TogoVar | |||||||
SORBS1_chr10_95306773_95566371 | 95413966 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0046 | 1 | 35 | 0.0286 | -18 | c.810 others(33): Show |
SORBS1 | ENSG00000095637.23 | transcript | ENST00000371247.7 | protein_coding | 9/32 | chr10 | TogoVar | |||||||
SORBS1_chr10_95306773_95566371 | 95433011 | AGTGGGGG others(11): Show |
A | intron_variant | MODIFIER | HG01928.hp2 HG01975.hp1 NA18953.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0168 a0001c0003t0002g0183 a0001c0003t0002g0186 others(1): Show |
4 | 298 | 0.0134 | -18 | c.173 others(33): Show |
SORBS1 | ENSG00000095637.23 | transcript | ENST00000371247.7 | protein_coding | 5/32 | chr10 | TogoVar | |||||||
SORBS2_chr4_185580523_185817194 | 185731858 | CTCTCTCT others(11): Show |
C | intron_variant | MODIFIER | HG03098.hp1 | a0007 | a0007c0033 | a0007c0033t0069 | a0007c0033t0069g0038 | 1 | 299 | 0.0033 | -18 | c.-41 others(35): Show |
SORBS2 | ENSG00000154556.20 | transcript | ENST00000695409.1 | protein_coding | 3/26 | chr4 | TogoVar | |||||||
SORBS2_chr4_185580523_185817194 | 185731860 | CTCTCTCT others(11): Show |
C | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0002 | a0001c0002t0045 | a0001c0002t0045g0013 | 1 | 289 | 0.0035 | -18 | c.-41 others(35): Show |
SORBS2 | ENSG00000154556.20 | transcript | ENST00000695409.1 | protein_coding | 3/26 | chr4 | TogoVar | |||||||
SORBS2_chr4_185580523_185817194 | 185731862 | CTCTCTAT others(11): Show |
C | intron_variant | MODIFIER | HG03516.hp2 HG03579.hp1 |
a0001 | a0001c0002a0001c0010 | a0001c0002t0014a0001c0010t0042 | a0001c0002t0014g0017 a0001c0010t0042g0011 |
2 | 281 | 0.0071 | -18 | c.-41 others(35): Show |
SORBS2 | ENSG00000154556.20 | transcript | ENST00000695409.1 | protein_coding | 3/26 | chr4 | TogoVar | |||||||
SORBS2_chr4_185580523_185817194 | 185731866 | CTATATAT others(11): Show |
C | intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0058 | a0001c0001t0058g0270 | 1 | 200 | 0.0050 | -18 | c.-41 others(35): Show |
SORBS2 | ENSG00000154556.20 | transcript | ENST00000695409.1 | protein_coding | 3/26 | chr4 | TogoVar | |||||||
SORBS2_chr4_185580523_185817194 | 185806434 | CTATTTTT others(11): Show |
C | intron_variant | MODIFIER | HG01081.hp1 HG01346.hp2 HG02818.hp1 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0012a0003c0021 | a0001c0001t0002a0001c0001t0011a0002c0012t0005others(1): Show | a0001c0001t0002g0296 a0001c0001t0002g0303 a0001c0001t0011g0297 others(2): Show |
5 | 9 | 0.5556 | -18 | c.-23 others(37): Show |
SORBS2 | ENSG00000154556.20 | transcript | ENST00000695409.1 | protein_coding | 1/26 | chr4 | TogoVar | |||||||
SORCS1_chr10_106568663_107169706 | 106581322 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0099 | 1 | 33 | 0.0303 | -18 | c.326 others(37): Show |
SORCS1 | ENSG00000108018.17 | transcript | ENST00000263054.11 | protein_coding | 24/25 | chr10 | TogoVar | |||||||
SORCS1_chr10_106568663_107169706 | 106606274 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG02451.hp2 NA19030.hp1 NA19043.hp2 |
a0001a0004 | a0001c0002a0004c0023 | a0001c0002t0006a0004c0023t0006 | a0001c0002t0006g0049 a0001c0002t0006g0051 a0004c0023t0006g0091 |
3 | 48 | 0.0625 | -18 | c.316 others(35): Show |
SORCS1 | ENSG00000108018.17 | transcript | ENST00000263054.11 | protein_coding | 23/25 | chr10 | TogoVar | |||||||
SORCS1_chr10_106568663_107169706 | 106612967 | TGGCTCAC others(11): Show |
T | intron_variant | MODIFIER | HG02258.hp2 HG02896.hp2 HG06807.hp2 |
a0001 | a0001c0004a0001c0022 | a0001c0004t0007a0001c0022t0001 | a0001c0004t0007g0002 a0001c0004t0007g0046 a0001c0022t0001g0010 |
3 | 130 | 0.0231 | -18 | c.292 others(35): Show |
SORCS1 | ENSG00000108018.17 | transcript | ENST00000263054.11 | protein_coding | 21/25 | chr10 | TogoVar | |||||||
SORCS1_chr10_106568663_107169706 | 106926826 | TATACACA others(11): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02258.hp1 HG02559.hp2 others(4): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0020a0001c0002t0001a0001c0003t0001others(3): Show | a0001c0001t0020g0021 a0001c0002t0001g0037 a0001c0003t0001g0048 others(4): Show |
7 | 87 | 0.0805 | -18 | c.626 others(37): Show |
SORCS1 | ENSG00000108018.17 | transcript | ENST00000263054.11 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
SORCS1_chr10_106568663_107169706 | 106926854 | CACACACA others(11): Show |
C | intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0058 | 1 | 129 | 0.0078 | -18 | c.626 others(37): Show |
SORCS1 | ENSG00000108018.17 | transcript | ENST00000263054.11 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
SORCS2_chr4_7187538_7747827 | 7403959 | GTGTATAT others(11): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG02056.hp1 HG02976.hp2 others(2): Show |
a0001a0002a0004others(1): Show | a0001c0010a0001c0015a0002c0004others(2): Show | a0001c0010t0059a0001c0015t0011a0002c0004t0005others(2): Show | a0001c0010t0059g0163 a0001c0015t0011g0015 a0002c0004t0005g0083 others(2): Show |
5 | 164 | 0.0305 | -18 | c.548 others(35): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7403983 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG01361.hp2 HG01884.hp1 others(12): Show |
a0001a0003a0006others(2): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0017a0001c0001t0054a0001c0002t0003others(12): Show | a0001c0001t0017g0052 a0001c0001t0054g0007 a0001c0002t0003g0028 others(12): Show |
15 | 167 | 0.0898 | -18 | c.548 others(35): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7403985 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0003 | a0001c0003t0023 | a0001c0003t0023g0147 | 1 | 138 | 0.0072 | -18 | c.548 others(35): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7452877 | CGTGTTGG others(11): Show |
C | intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0082 | 1 | 168 | 0.0060 | -18 | c.548 others(37): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7452989 | TCCGTGTT others(11): Show |
T | intron_variant | MODIFIER | HG01070.hp2 HG01109.hp1 HG01109.hp2 others(22): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(20): Show | a0001c0001t0002g0130 a0001c0001t0004g0048 a0001c0001t0006g0125 others(22): Show |
25 | 168 | 0.1488 | -18 | c.548 others(37): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7453681 | GCTGTGTT others(11): Show |
G | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0011 | a0001c0011t0015 | a0001c0011t0015g0077 | 1 | 167 | 0.0060 | -18 | c.548 others(37): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7454515 | ATGCTGTG others(11): Show |
A | intron_variant | MODIFIER | HG01106.hp2 HG01361.hp1 HG01891.hp2 others(7): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0011others(5): Show | a0001c0001t0002a0001c0001t0029a0001c0001t0048others(7): Show | a0001c0001t0002g0089 a0001c0001t0029g0141 a0001c0001t0048g0094 others(7): Show |
10 | 168 | 0.0595 | -18 | c.548 others(37): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7454796 | GCTGTGTT others(11): Show |
G | intron_variant | MODIFIER | HG02976.hp1 | a0006 | a0006c0045 | a0006c0045t0001 | a0006c0045t0001g0148 | 1 | 168 | 0.0060 | -18 | c.548 others(37): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7494004 | AACACACA others(11): Show |
A | intron_variant | MODIFIER | HG02559.hp1 HG02615.hp2 HG03471.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0003a0001c0001t0013a0001c0005t0006 | a0001c0001t0003g0097 a0001c0001t0013g0099 a0001c0005t0006g0157 |
3 | 168 | 0.0179 | -18 | c.549 others(37): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7519052 | GGTGGCTC others(11): Show |
G | intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0062 | 1 | 168 | 0.0060 | -18 | c.549 others(37): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7701992 | ACATGGCA others(11): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00733.hp1 others(35): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(29): Show | a0001c0001t0003g0003 a0001c0001t0003g0097 a0001c0001t0003g0138 others(35): Show |
38 | 168 | 0.2262 | -18 | c.166 others(37): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 12/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS3_chr10_104636290_105270242 | 104684779 | GTTTTTTT others(11): Show |
G | intron_variant | MODIFIER | HG01175.hp1 HG02647.hp1 HG03017.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0040 a0001c0001t0001g0076 a0001c0001t0002g0025 others(2): Show |
5 | 25 | 0.2000 | -18 | c.627 others(37): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SORCS3_chr10_104636290_105270242 | 104952255 | GAAAAAAA others(11): Show |
G | intron_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0034 | 1 | 3 | 0.3333 | -18 | c.796 others(37): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SORCS3_chr10_104636290_105270242 | 105072657 | CTCTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG02976.hp1 NA19043.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0124 a0001c0002t0002g0053 |
2 | 20 | 0.1000 | -18 | c.102 others(39): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 5/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SORCS3_chr10_104636290_105270242 | 105086981 | TGCCCATG others(11): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00609.hp1 others(76): Show |
a0001a0003a0006others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0009 a0001c0001t0001g0026 a0001c0001t0001g0027 others(76): Show |
79 | 134 | 0.5896 | -18 | c.102 others(37): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 5/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SORCS3_chr10_104636290_105270242 | 105183804 | ACTGGGGA others(11): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00609.hp1 others(51): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0040 others(51): Show |
54 | 134 | 0.4030 | -18 | c.200 others(37): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 14/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SORCS3_chr10_104636290_105270242 | 105227985 | TTGTGTGT others(11): Show |
T | intron_variant | MODIFIER | HG02922.hp2 HG02965.hp1 HG02970.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0002t0001a0002c0004t0001 | a0001c0001t0001g0009 a0001c0002t0001g0052 a0001c0002t0001g0075 others(2): Show |
5 | 40 | 0.1250 | -18 | c.286 others(37): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SORCS3_chr10_104636290_105270242 | 105242476 | TTATATAT others(11): Show |
T | intron_variant | MODIFIER | HG01123.hp2 HG01433.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0042 a0001c0002t0003g0128 |
2 | 126 | 0.0159 | -18 | c.286 others(37): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SORD_chr15_45018195_45082185 | 45031309 | TAAAACAA others(11): Show |
T | intron_variant | MODIFIER | HG01928.hp1 HG01978.hp2 HG02148.hp2 |
a0002 | a0002c0002 | a0002c0002t0014 | a0002c0002t0014g0029 a0002c0002t0014g0030 a0002c0002t0014g0031 |
3 | 306 | 0.0098 | -18 | c.66+ others(33): Show |
SORD | ENSG00000140263.15 | transcript | ENST00000267814.14 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SORT1_chr1_109304575_109402918 | 109378699 | GATATATA others(11): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp1 HG01070.hp2 others(23): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(8): Show | a0001c0001t0001g0036 a0001c0001t0001g0046 a0001c0001t0001g0050 others(23): Show |
26 | 44 | 0.5909 | -18 | c.307 others(35): Show |
SORT1 | ENSG00000134243.12 | transcript | ENST00000256637.8 | protein_coding | 1/19 | chr1 | TogoVar | |||||||
SOS1_chr2_38976549_39126051 | 39069190 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG02723.hp1 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0021 | a0001c0001t0020g0036 a0001c0001t0021g0037 |
2 | 26 | 0.0769 | -18 | c.88- others(33): Show |
SOS1 | ENSG00000115904.15 | transcript | ENST00000402219.8 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
SOS2_chr14_50112130_50236578 | 50178664 | GTGTGTGC others(11): Show |
G | intron_variant | MODIFIER | NA18906.hp1 NA20300.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0135 a0001c0003t0001g0136 |
2 | 378 | 0.0053 | -18 | c.969 others(35): Show |
SOS2 | ENSG00000100485.12 | transcript | ENST00000216373.10 | protein_coding | 7/22 | chr14 | TogoVar | |||||||
SOS2_chr14_50112130_50236578 | 50178668 | GTGCATAT others(11): Show |
G | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 a0001c0001t0001g0140 |
2 | 283 | 0.0071 | -18 | c.969 others(35): Show |
SOS2 | ENSG00000100485.12 | transcript | ENST00000216373.10 | protein_coding | 7/22 | chr14 | TogoVar | |||||||
SOS2_chr14_50112130_50236578 | 50192143 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG01934.hp1 HG04228.hp2 NA19078.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 a0001c0001t0001g0161 a0001c0001t0001g0281 |
3 | 25 | 0.1200 | -18 | c.511 others(35): Show |
SOS2 | ENSG00000100485.12 | transcript | ENST00000216373.10 | protein_coding | 4/22 | chr14 | TogoVar | |||||||
SOS2_chr14_50112130_50236578 | 50224312 | TATACACA others(11): Show |
T | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0013 | a0001c0013t0012 | a0001c0013t0012g0380 | 1 | 366 | 0.0027 | -18 | c.87+ others(33): Show |
SOS2 | ENSG00000100485.12 | transcript | ENST00000216373.10 | protein_coding | 1/22 | chr14 | TogoVar | |||||||
SOSTDC1_chr7_16456481_16470738 | 16470044 | TTATATAT others(11): Show |
T | upstream_gene_variant | MODIFIER | HG00323.hp2 HG01167.hp2 HG01169.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0004 a0001c0001t0002g0016 a0001c0001t0006g0020 |
11 | 58 | 0.1897 | -18 | c.-43 others(29): Show |
SOSTDC1 | ENSG00000171243.8 | transcript | ENST00000307068.5 | protein_coding | 4307 | chr7 | TogoVar |