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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SORCS1_chr10_106568663_107169706 | 106878620 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG00544.hp2 HG02723.hp2 NA21309.hp2 |
a0001a0002 | a0001c0004a0001c0007a0002c0006 | a0001c0004t0004a0001c0007t0016a0002c0006t0001 | a0001c0004t0004g0107 a0001c0007t0016g0078 a0002c0006t0001g0105 |
3 | 130 | 0.0231 | 18 | c.627 others(37): Show |
SORCS1 | ENSG00000108018.17 | transcript | ENST00000263054.11 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
SORCS1_chr10_106568663_107169706 | 106878646 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02040.hp2 HG02071.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0004a0001c0002t0003a0001c0003t0001 | a0001c0001t0004g0004 a0001c0001t0004g0101 a0001c0002t0003g0026 others(1): Show |
4 | 130 | 0.0308 | 18 | c.627 others(37): Show |
SORCS1 | ENSG00000108018.17 | transcript | ENST00000263054.11 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
SORCS1_chr10_106568663_107169706 | 106891504 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02896.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0002t0004 | a0001c0001t0008g0001 a0001c0002t0004g0043 |
2 | 130 | 0.0154 | 18 | c.627 others(37): Show |
SORCS1 | ENSG00000108018.17 | transcript | ENST00000263054.11 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
SORCS1_chr10_106568663_107169706 | 106944874 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0101 | 1 | 130 | 0.0077 | 18 | c.626 others(37): Show |
SORCS1 | ENSG00000108018.17 | transcript | ENST00000263054.11 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
SORCS1_chr10_106568663_107169706 | 106970336 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02559.hp1 NA21309.hp1 |
a0001a0013 | a0001c0014a0013c0017 | a0001c0014t0001a0013c0017t0003 | a0001c0014t0001g0068 a0013c0017t0003g0020 |
2 | 130 | 0.0154 | 18 | c.559 others(37): Show |
SORCS1 | ENSG00000108018.17 | transcript | ENST00000263054.11 | protein_coding | 1/25 | chr10 | TogoVar | |||||||
SORCS1_chr10_106568663_107169706 | 107034680 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 130 | 0.0077 | 18 | c.559 others(37): Show |
SORCS1 | ENSG00000108018.17 | transcript | ENST00000263054.11 | protein_coding | 1/25 | chr10 | TogoVar | |||||||
SORCS1_chr10_106568663_107169706 | 107165292 | A | AGTGTGTG others(11): Show |
upstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 | 1 | 130 | 0.0077 | 18 | c.-76 others(27): Show |
SORCS1 | ENSG00000108018.17 | transcript | ENST00000263054.11 | protein_coding | 587 | chr10 | TogoVar | |||||||
SORCS2_chr4_7187538_7747827 | 7219170 | C | CTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01261.hp2 HG01346.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0007a0001c0001t0032a0001c0001t0069others(5): Show | a0001c0001t0007g0063 a0001c0001t0032g0141 a0001c0001t0069g0092 others(5): Show |
8 | 168 | 0.0476 | 18 | c.480 others(37): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7294887 | C | CCCTCCTC others(11): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0123 | 1 | 168 | 0.0060 | 18 | c.481 others(39): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7295013 | C | CCCTTCTC others(11): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0125 | 1 | 168 | 0.0060 | 18 | c.481 others(39): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7295033 | C | CCCCCCTC others(11): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0072 | a0001c0001t0072g0161 | 1 | 168 | 0.0060 | 18 | c.481 others(39): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7302767 | A | ATGTGTGT others(11): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0014 | 1 | 168 | 0.0060 | 18 | c.481 others(37): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7373458 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0048 | a0001c0048t0001 | a0001c0048t0001g0146 | 1 | 168 | 0.0060 | 18 | c.481 others(37): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7373478 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0026 | a0001c0026t0062 | a0001c0026t0062g0049 | 1 | 168 | 0.0060 | 18 | c.481 others(37): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7403959 | G | GTATGTAT others(11): Show |
intron_variant | MODIFIER | HG02559.hp2 HG03209.hp2 |
a0001 | a0001c0002a0001c0037 | a0001c0002t0004a0001c0037t0020 | a0001c0002t0004g0018 a0001c0037t0020g0017 |
2 | 168 | 0.0119 | 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 | 7403961 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0002 | a0001c0002t0065 | a0001c0002t0065g0004 | 1 | 168 | 0.0060 | 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 | 7453552 | G | GTGTGTTG others(11): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0010 | a0001c0010t0076 | a0001c0010t0076g0163 | 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 | 7455210 | T | TGTGTTGG others(11): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03209.hp2 |
a0001 | a0001c0005a0001c0037 | a0001c0005t0001a0001c0037t0020 | a0001c0005t0001g0156 a0001c0037t0020g0017 |
2 | 168 | 0.0119 | 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 | 7455474 | A | ATTGGGGT others(11): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0030 | a0001c0030t0026 | a0001c0030t0026g0144 | 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 | 7655202 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02615.hp2 HG03139.hp1 |
a0001 | a0001c0005a0001c0014a0001c0041 | a0001c0005t0042a0001c0014t0034a0001c0041t0013 | a0001c0005t0042g0157 a0001c0014t0034g0040 a0001c0041t0013g0031 |
3 | 168 | 0.0179 | 18 | c.887 others(35): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 5/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7655202 | T | TGTACACA others(11): Show |
intron_variant | MODIFIER | HG03453.hp2 NA18522.hp2 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0015a0001c0005t0014 | a0001c0003t0015g0034 a0001c0005t0014g0102 |
2 | 168 | 0.0119 | 18 | c.887 others(33): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 5/26 | chr4 | TogoVar | |||||||
SORCS2_chr4_7187538_7747827 | 7685684 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0026 | 1 | 168 | 0.0060 | 18 | c.148 others(37): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 10/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7724126 | G | GGTGGTGG others(11): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02451.hp1 HG03453.hp2 |
a0001a0004a0005 | a0001c0005a0004c0007a0005c0021 | a0001c0005t0014a0004c0007t0001a0005c0021t0070 | a0001c0005t0014g0102 a0004c0007t0001g0026 a0005c0021t0070g0103 |
3 | 168 | 0.0179 | 18 | c.261 others(35): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS3_chr10_104636290_105270242 | 104671325 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0076 a0001c0001t0002g0095 |
2 | 134 | 0.0149 | 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 | 104696006 | T | TATAATAT others(11): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0103 | 1 | 134 | 0.0075 | 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 | 104735456 | G | GTTTTTTT others(11): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0111 | 1 | 134 | 0.0075 | 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 | 104786549 | A | AAATAATA others(11): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01106.hp2 HG01123.hp1 others(26): Show |
a0001a0005a0010others(1): Show | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0049 a0001c0001t0001g0098 a0001c0001t0001g0100 others(26): Show |
29 | 134 | 0.2164 | 18 | c.628 others(37): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SORCS3_chr10_104636290_105270242 | 104940204 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0013 | a0013c0016 | a0013c0016t0004 | a0013c0016t0004g0059 | 1 | 134 | 0.0075 | 18 | c.795 others(37): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SORCS3_chr10_104636290_105270242 | 104957554 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0078 | 1 | 134 | 0.0075 | 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 | 105003998 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00642.hp2 HG01123.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0027 a0001c0001t0001g0042 a0001c0001t0001g0046 others(1): Show |
4 | 134 | 0.0299 | 18 | c.954 others(37): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SORCS3_chr10_104636290_105270242 | 105125676 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG01515.hp2 HG01517.hp2 HG02922.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0018 | a0001c0001t0002a0001c0002t0003a0001c0018t0002 | a0001c0001t0002g0016 a0001c0001t0002g0019 a0001c0002t0003g0060 others(1): Show |
4 | 134 | 0.0299 | 18 | c.121 others(39): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SORCS3_chr10_104636290_105270242 | 105125679 | C | CCACACAC others(11): Show |
intron_variant | MODIFIER | HG01346.hp2 HG01433.hp1 HG02622.hp2 others(13): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(7): Show | a0001c0001t0001g0009 a0001c0002t0001g0008 a0001c0002t0001g0030 others(13): Show |
16 | 134 | 0.1194 | 18 | c.121 others(39): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SORCS3_chr10_104636290_105270242 | 105182230 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 134 | 0.0075 | 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 | 105207272 | T | TTTATTAT others(11): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00741.hp2 HG01070.hp2 others(10): Show |
a0001a0003a0007 | a0001c0001a0001c0003a0003c0009others(1): Show | a0001c0001t0002a0001c0003t0002a0003c0009t0002others(1): Show | a0001c0001t0002g0014 a0001c0001t0002g0082 a0001c0001t0002g0083 others(10): Show |
13 | 134 | 0.0970 | 18 | c.226 others(37): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 16/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SORL1_chr11_121447314_121638763 | 121540522 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01952.hp1 HG02273.hp2 others(7): Show |
a0001a0002 | a0001c0031a0001c0035a0001c0061others(1): Show | a0001c0031t0010a0001c0035t0003a0001c0061t0011others(4): Show | a0001c0031t0010g0214 a0001c0035t0003g0169 a0001c0061t0011g0166 others(7): Show |
10 | 272 | 0.0368 | 18 | c.168 others(37): Show |
SORL1 | ENSG00000137642.13 | transcript | ENST00000260197.12 | protein_coding | 12/47 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SORL1_chr11_121447314_121638763 | 121547417 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0031 | a0001c0031t0010 | a0001c0031t0010g0214 | 1 | 272 | 0.0037 | 18 | c.205 others(37): Show |
SORL1 | ENSG00000137642.13 | transcript | ENST00000260197.12 | protein_coding | 14/47 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SORT1_chr1_109304575_109402918 | 109351965 | G | GGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0160 | 1 | 240 | 0.0042 | 18 | c.709 others(33): Show |
SORT1 | ENSG00000134243.12 | transcript | ENST00000256637.8 | protein_coding | 5/19 | chr1 | TogoVar | |||||||
SORT1_chr1_109304575_109402918 | 109378735 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0173 | 1 | 240 | 0.0042 | 18 | c.307 others(35): Show |
SORT1 | ENSG00000134243.12 | transcript | ENST00000256637.8 | protein_coding | 1/19 | chr1 | TogoVar | |||||||
SOS1_chr2_38976549_39126051 | 39110026 | T | TTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG02615.hp1 NA18522.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0018a0001c0001t0024 | a0001c0001t0004g0007 a0001c0001t0018g0047 a0001c0001t0024g0046 |
3 | 246 | 0.0122 | 18 | c.87+ others(35): Show |
SOS1 | ENSG00000115904.15 | transcript | ENST00000402219.8 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
SOS1_chr2_38976549_39126051 | 39122708 | G | GTGGGGGT others(11): Show |
upstream_gene_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0193 | 1 | 246 | 0.0041 | 18 | c.-22 others(29): Show |
SOS1 | ENSG00000115904.15 | transcript | ENST00000402219.8 | protein_coding | 1658 | chr2 | TogoVar | |||||||
SOS2_chr14_50112130_50236578 | 50113915 | C | CAAAACAA others(11): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00544.hp2 HG00558.hp2 others(83): Show |
a0001a0004a0006others(1): Show | a0001c0001a0001c0003a0004c0014others(2): Show | a0001c0001t0001a0001c0003t0001a0004c0014t0001others(2): Show | a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0126 others(83): Show |
86 | 382 | 0.2251 | 18 | c.*44 others(29): Show |
SOS2 | ENSG00000100485.12 | transcript | ENST00000216373.10 | protein_coding | 3214 | chr14 | TogoVar | |||||||
SOS2_chr14_50112130_50236578 | 50156257 | T | TGTACACA others(11): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03139.hp2 HG03195.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0005 | a0001c0003t0001g0309 a0001c0003t0001g0310 a0001c0003t0001g0311 others(1): Show |
4 | 382 | 0.0105 | 18 | c.205 others(35): Show |
SOS2 | ENSG00000100485.12 | transcript | ENST00000216373.10 | protein_coding | 12/22 | chr14 | TogoVar | |||||||
SOS2_chr14_50112130_50236578 | 50209274 | C | CGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01192.hp1 HG02074.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0231 others(11): Show |
14 | 382 | 0.0367 | 18 | c.88- others(33): Show |
SOS2 | ENSG00000100485.12 | transcript | ENST00000216373.10 | protein_coding | 1/22 | chr14 | TogoVar | |||||||
SOS2_chr14_50112130_50236578 | 50220405 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 NA19000.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0086 |
3 | 382 | 0.0079 | 18 | c.87+ others(35): Show |
SOS2 | ENSG00000100485.12 | transcript | ENST00000216373.10 | protein_coding | 1/22 | chr14 | TogoVar | |||||||
SOWAHC_chr2_109609364_109623990 | 109619183 | A | AAAAGCTG others(11): Show |
downstream_gene_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0000 | 1 | 432 | 0.0023 | 18 | c.*31 others(29): Show |
SOWAHC | ENSG00000198142.5 | transcript | ENST00000356454.5 | protein_coding | 194 | chr2 | TogoVar | |||||||
SOX11_chr2_5687384_5706385 | 5688834 | T | TTGTGTGT others(11): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG00642.hp2 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(23): Show |
41 | 434 | 0.0945 | 18 | c.-38 others(29): Show |
SOX11 | ENSG00000176887.7 | transcript | ENST00000322002.5 | protein_coding | 3549 | chr2 | TogoVar | |||||||
SOX30_chr5_157620679_157657438 | 157632047 | T | TAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00621.hp1 HG01070.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0025 a0001c0001t0002g0123 a0001c0001t0002g0124 others(5): Show |
9 | 394 | 0.0228 | 18 | c.188 others(37): Show |
SOX30 | ENSG00000039600.11 | transcript | ENST00000265007.11 | protein_coding | 4/4 | chr5 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23530798 | A | AGTGTGTG others(11): Show |
3_prime_UTR_variant | MODIFIER | HG01516.hp2 HG01517.hp1 HG01981.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009a0001c0001t0013others(5): Show | a0001c0001t0003g0086 a0001c0001t0003g0093 a0001c0001t0003g0120 others(19): Show |
22 | 212 | 0.1038 | 18 | c.*34 others(29): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 15/15 | 3420 | chr12 | TogoVar | ||||||
SOX5_chr12_23524504_23954670 | 23530818 | T | TGTGTGTG others(11): Show |
3_prime_UTR_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0142 | 1 | 212 | 0.0047 | 18 | c.*34 others(29): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 15/15 | 3400 | chr12 | TogoVar | ||||||
SOX5_chr12_23524504_23954670 | 23578117 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03209.hp2 HG03942.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0027a0001c0001t0068others(1): Show | a0001c0001t0001g0172 a0001c0001t0027g0146 a0001c0001t0068g0060 others(1): Show |
4 | 212 | 0.0189 | 18 | c.116 others(37): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 9/14 | chr12 | TogoVar |