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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SORCS3_chr10_104636290_105270242 | 105025837 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02717.hp1 HG02809.hp1 others(3): Show |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0001a0001c0002t0003a0002c0004t0001 | a0001c0002t0001g0051 a0001c0002t0001g0073 a0001c0002t0001g0075 others(3): Show |
6 | 134 | 0.0448 | -8 | c.955 others(27): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SORCS3_chr10_104636290_105270242 | 105031324 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00609.hp1 HG01106.hp2 others(16): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0018others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0040 a0001c0001t0001g0049 a0001c0001t0001g0098 others(16): Show |
19 | 134 | 0.1418 | -8 | c.955 others(27): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SORCS3_chr10_104636290_105270242 | 105031332 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG01099.hp1 HG01167.hp2 HG01169.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0004a0001c0003t0001 | a0001c0001t0003g0023 a0001c0001t0003g0033 a0001c0001t0003g0079 others(4): Show |
7 | 134 | 0.0522 | -8 | c.955 others(27): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SORCS3_chr10_104636290_105270242 | 105077559 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG02809.hp2 HG02895.hp2 HG02965.hp1 others(5): Show |
a0001a0002a0004others(1): Show | a0001c0002a0002c0004a0004c0008others(1): Show | a0001c0002t0001a0001c0002t0003a0002c0004t0001others(2): Show | a0001c0002t0001g0075 a0001c0002t0001g0085 a0001c0002t0003g0004 others(5): Show |
8 | 134 | 0.0597 | -8 | c.102 others(29): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 5/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SORCS3_chr10_104636290_105270242 | 105091119 | CTCCCTCC others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG01070.hp2 HG01081.hp1 others(35): Show |
a0001 | a0001c0001a0001c0002a0001c0018 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0009 a0001c0001t0001g0026 a0001c0001t0001g0032 others(35): Show |
38 | 134 | 0.2836 | -8 | c.109 others(27): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 6/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SORCS3_chr10_104636290_105270242 | 105102780 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00609.hp1 HG00642.hp1 HG01099.hp1 others(14): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0037 a0001c0001t0001g0072 a0001c0001t0003g0023 others(14): Show |
17 | 134 | 0.1269 | -8 | c.109 others(27): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 6/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SORCS3_chr10_104636290_105270242 | 105227985 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG03130.hp1 HG03516.hp1 HG04184.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0002g0121 a0001c0001t0003g0033 a0001c0002t0001g0050 others(1): Show |
4 | 134 | 0.0299 | -8 | c.286 others(27): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SORCS3_chr10_104636290_105270242 | 105242549 | TTTATATA others(1): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG03927.hp2 NA18943.hp2 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0004a0001c0006t0004 | a0001c0001t0004g0107 a0001c0001t0004g0112 a0001c0006t0004g0047 others(1): Show |
4 | 134 | 0.0299 | -8 | c.286 others(27): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 20/26 | chr10 | TogoVar | |||||||
SORCS3_chr10_104636290_105270242 | 105242562 | ATATATAT others(1): Show |
A | intron_variant | MODIFIER | HG01099.hp1 HG01106.hp1 HG01167.hp2 others(5): Show |
a0001a0013 | a0001c0001a0013c0016 | a0001c0001t0004a0013c0016t0004 | a0001c0001t0004g0028 a0001c0001t0004g0038 a0001c0001t0004g0039 others(5): Show |
8 | 134 | 0.0597 | -8 | c.286 others(27): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SORCS3_chr10_104636290_105270242 | 105242768 | TTTTATAT others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG01123.hp1 HG01175.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0002t0001a0001c0006t0001 | a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0040 others(7): Show |
10 | 134 | 0.0746 | -8 | c.286 others(27): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SORD_chr15_45018195_45082185 | 45038126 | CCCTTCCT others(1): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG00735.hp2 HG01074.hp1 others(47): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(12): Show | a0001c0001t0001g0002 a0001c0001t0001g0044 a0001c0001t0001g0070 others(45): Show |
50 | 308 | 0.1623 | -8 | c.67- others(23): Show |
SORD | ENSG00000140263.15 | transcript | ENST00000267814.14 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SORL1_chr11_121447314_121638763 | 121586697 | GGGGGGGG others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(137): Show |
a0001a0002a0004others(7): Show | a0001c0001a0001c0002a0001c0003others(34): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(69): Show | a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0052 others(136): Show |
140 | 272 | 0.5147 | -8 | c.381 others(25): Show |
SORL1 | ENSG00000137642.13 | transcript | ENST00000260197.12 | protein_coding | 27/47 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SORT1_chr1_109304575_109402918 | 109326458 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG01258.hp1 HG02027.hp1 HG02132.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0029 | a0001c0001t0001g0076 a0001c0001t0001g0081 a0001c0001t0001g0103 others(3): Show |
6 | 240 | 0.0250 | -8 | c.164 others(25): Show |
SORT1 | ENSG00000134243.12 | transcript | ENST00000256637.8 | protein_coding | 13/19 | chr1 | TogoVar | |||||||
SORT1_chr1_109304575_109402918 | 109326462 | TATACATA others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00673.hp1 HG00738.hp1 others(39): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(3): Show | a0001c0001t0001g0014 a0001c0001t0001g0026 a0001c0001t0001g0033 others(39): Show |
42 | 240 | 0.1750 | -8 | c.164 others(25): Show |
SORT1 | ENSG00000134243.12 | transcript | ENST00000256637.8 | protein_coding | 13/19 | chr1 | TogoVar | |||||||
SORT1_chr1_109304575_109402918 | 109326464 | TACATACA others(1): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00673.hp2 HG02055.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0025 | a0001c0001t0002g0013 a0001c0001t0002g0051 a0001c0001t0002g0147 others(1): Show |
4 | 240 | 0.0167 | -8 | c.164 others(25): Show |
SORT1 | ENSG00000134243.12 | transcript | ENST00000256637.8 | protein_coding | 13/19 | chr1 | TogoVar | |||||||
SORT1_chr1_109304575_109402918 | 109326510 | CATACACA others(1): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02572.hp1 HG02886.hp2 others(9): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0009 | a0001c0001t0001a0001c0003t0008a0001c0003t0010others(3): Show | a0001c0001t0001g0048 a0001c0003t0008g0004 a0001c0003t0008g0005 others(9): Show |
12 | 240 | 0.0500 | -8 | c.164 others(25): Show |
SORT1 | ENSG00000134243.12 | transcript | ENST00000256637.8 | protein_coding | 13/19 | chr1 | TogoVar | |||||||
SORT1_chr1_109304575_109402918 | 109378699 | GATATATA others(1): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG01258.hp1 HG01934.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(6): Show | a0001c0001t0001g0014 a0001c0001t0001g0034 a0001c0001t0001g0078 others(16): Show |
19 | 240 | 0.0792 | -8 | c.307 others(25): Show |
SORT1 | ENSG00000134243.12 | transcript | ENST00000256637.8 | protein_coding | 1/19 | chr1 | TogoVar | |||||||
SOS1_chr2_38976549_39126051 | 39069190 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00597.hp2 HG00609.hp2 others(104): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0008others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(16): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0062 others(104): Show |
107 | 246 | 0.4350 | -8 | c.88- others(23): Show |
SOS1 | ENSG00000115904.15 | transcript | ENST00000402219.8 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
SOS2_chr14_50112130_50236578 | 50160379 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00544.hp1 others(130): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0012others(5): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0005others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0109 a0001c0001t0001g0121 others(129): Show |
133 | 382 | 0.3482 | -8 | c.119 others(25): Show |
SOS2 | ENSG00000100485.12 | transcript | ENST00000216373.10 | protein_coding | 9/22 | chr14 | TogoVar | |||||||
SOS2_chr14_50112130_50236578 | 50178668 | GTGCATAT others(1): Show |
G | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01192.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0225 |
3 | 382 | 0.0079 | -8 | c.969 others(25): Show |
SOS2 | ENSG00000100485.12 | transcript | ENST00000216373.10 | protein_coding | 7/22 | chr14 | TogoVar | |||||||
SOS2_chr14_50112130_50236578 | 50178670 | GCATATAT others(1): Show |
G | intron_variant | MODIFIER | HG00621.hp2 HG01884.hp1 HG02071.hp1 others(13): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001a0001c0003t0007 | a0001c0002t0001g0008 a0001c0002t0001g0011 a0001c0002t0001g0024 others(13): Show |
16 | 382 | 0.0419 | -8 | c.969 others(25): Show |
SOS2 | ENSG00000100485.12 | transcript | ENST00000216373.10 | protein_coding | 7/22 | chr14 | TogoVar | |||||||
SOS2_chr14_50112130_50236578 | 50178721 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(232): Show |
a0001a0003a0005others(3): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(14): Show | a0001c0001t0001g0001 a0001c0001t0001g0109 a0001c0001t0001g0126 others(231): Show |
235 | 382 | 0.6152 | -8 | c.969 others(25): Show |
SOS2 | ENSG00000100485.12 | transcript | ENST00000216373.10 | protein_coding | 7/22 | chr14 | TogoVar | |||||||
SOS2_chr14_50112130_50236578 | 50184864 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG02559.hp1 HG03139.hp2 HG03195.hp1 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0005 | a0001c0003t0001g0135 a0001c0003t0001g0136 a0001c0003t0001g0309 others(4): Show |
7 | 382 | 0.0183 | -8 | c.715 others(25): Show |
SOS2 | ENSG00000100485.12 | transcript | ENST00000216373.10 | protein_coding | 5/22 | chr14 | TogoVar | |||||||
SOS2_chr14_50112130_50236578 | 50224312 | TATACACA others(1): Show |
T | intron_variant | MODIFIER | HG02559.hp1 HG03195.hp1 NA19240.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0309 a0001c0003t0001g0310 a0001c0003t0001g0311 |
3 | 382 | 0.0079 | -8 | c.87+ others(23): Show |
SOS2 | ENSG00000100485.12 | transcript | ENST00000216373.10 | protein_coding | 1/22 | chr14 | TogoVar | |||||||
SOS2_chr14_50112130_50236578 | 50224314 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00639.hp1 others(49): Show |
a0001a0004a0006 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0003others(2): Show | a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0149 others(49): Show |
52 | 382 | 0.1361 | -8 | c.87+ others(23): Show |
SOS2 | ENSG00000100485.12 | transcript | ENST00000216373.10 | protein_coding | 1/22 | chr14 | TogoVar | |||||||
SOS2_chr14_50112130_50236578 | 50235501 | CATATATA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(215): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(12): Show | a0001c0001t0001g0109 a0001c0001t0001g0121 a0001c0001t0001g0122 others(215): Show |
218 | 382 | 0.5707 | -8 | c.-42 others(19): Show |
SOS2 | ENSG00000100485.12 | transcript | ENST00000216373.10 | protein_coding | 3924 | chr14 | TogoVar | |||||||
SOSTDC1_chr7_16456481_16470738 | 16470044 | TTATATAT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG01069.hp2 HG01123.hp2 HG01243.hp1 others(17): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0002g0001 others(2): Show |
20 | 422 | 0.0474 | -8 | c.-43 others(19): Show |
SOSTDC1 | ENSG00000171243.8 | transcript | ENST00000307068.5 | protein_coding | 4307 | chr7 | TogoVar | |||||||
SOSTDC1_chr7_16456481_16470738 | 16470085 | TATATATA others(1): Show |
T | upstream_gene_variant | MODIFIER | HG02683.hp2 HG03710.hp1 NA19000.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0001 | a0001c0001t0001g0011 a0001c0001t0003g0005 a0002c0002t0001g0013 |
4 | 422 | 0.0095 | -8 | c.-44 others(19): Show |
SOSTDC1 | ENSG00000171243.8 | transcript | ENST00000307068.5 | protein_coding | 4348 | chr7 | TogoVar | |||||||
SOST_chr17_43748738_43763791 | 43749388 | TCACACAC others(1): Show |
T | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00544.hp1 HG00558.hp2 others(151): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(16): Show |
154 | 422 | 0.3649 | -8 | c.*59 others(19): Show |
SOST | ENSG00000167941.3 | transcript | ENST00000301691.3 | protein_coding | 4349 | chr17 | TogoVar | |||||||
SOX13_chr1_204068115_204132743 | 204073975 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(285): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0003c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0012 others(279): Show |
288 | 364 | 0.7912 | -8 | c.-2+ others(21): Show |
SOX13 | ENSG00000143842.15 | transcript | ENST00000367204.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SOX21_chr13_94704622_94717545 | 94714606 | TCACACAC others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00438.hp1 others(201): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(3): Show | a0001c0001t0001g0000 a0001c0001t0005g0000 a0001c0001t0009g0000 others(3): Show |
204 | 436 | 0.4679 | -8 | c.-25 others(19): Show |
SOX21 | ENSG00000125285.6 | transcript | ENST00000376945.4 | protein_coding | 2062 | chr13 | TogoVar | |||||||
SOX30_chr5_157620679_157657438 | 157628365 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00639.hp2 others(25): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0002c0004others(2): Show | a0001c0001t0002a0001c0001t0012a0001c0002t0001others(3): Show | a0001c0001t0002g0010 a0001c0001t0002g0025 a0001c0001t0002g0026 others(20): Show |
28 | 394 | 0.0711 | -8 | c.188 others(27): Show |
SOX30 | ENSG00000039600.11 | transcript | ENST00000265007.11 | protein_coding | 4/4 | chr5 | TogoVar | |||||||
SOX30_chr5_157620679_157657438 | 157631062 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00558.hp2 others(89): Show |
a0001a0009a0010 | a0001c0001a0001c0002a0001c0016others(2): Show | a0001c0001t0001a0001c0001t0007a0001c0002t0001others(4): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0015 others(67): Show |
92 | 394 | 0.2335 | -8 | c.188 others(27): Show |
SOX30 | ENSG00000039600.11 | transcript | ENST00000265007.11 | protein_coding | 4/4 | chr5 | TogoVar | |||||||
SOX3_chrX_140497985_140510069 | 140506944 | AGTGTGTG others(1): Show |
A | upstream_gene_variant | MODIFIER | HG01433.hp1 HG02809.hp2 HG03834.hp1 others(7): Show |
a0001a0008 | a0001c0001a0001c0004a0008c0010 | a0001c0001t0001a0001c0004t0001a0008c0010t0001 | a0001c0001t0001g0000 a0001c0004t0001g0000 a0008c0010t0001g0000 |
10 | 339 | 0.0295 | -8 | c.-18 others(19): Show |
SOX3 | ENSG00000134595.9 | transcript | ENST00000370536.5 | protein_coding | 1876 | chrX | TogoVar | |||||||
SOX3_chrX_140497985_140510069 | 140506972 | TGTGTGTG others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00597.hp2 others(75): Show |
a0001a0006a0007 | a0001c0001a0006c0008a0007c0007 | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(2): Show | a0001c0001t0001g0000 a0001c0001t0009g0000 a0001c0001t0010g0000 others(2): Show |
78 | 339 | 0.2301 | -8 | c.-19 others(19): Show |
SOX3 | ENSG00000134595.9 | transcript | ENST00000370536.5 | protein_coding | 1904 | chrX | TogoVar | |||||||
SOX4_chr6_21588751_21603619 | 21597522 | CTTTTTTT others(1): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00544.hp2 others(107): Show |
a0001a0003a0005 | a0001c0001a0001c0008a0003c0003others(1): Show | a0001c0001t0002a0001c0001t0024a0001c0001t0029others(9): Show | a0001c0001t0002g0000 a0001c0001t0024g0000 a0001c0001t0029g0000 others(9): Show |
110 | 356 | 0.3090 | -8 | c.*15 others(19): Show |
SOX4 | ENSG00000124766.7 | transcript | ENST00000244745.4 | protein_coding | 1/1 | 1575 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SOX5_chr12_23524504_23954670 | 23530818 | TGCGCGCG others(1): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01891.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0094 a0001c0001t0020g0181 |
2 | 212 | 0.0094 | -8 | c.*33 others(19): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 15/15 | 3393 | chr12 | TogoVar | ||||||
SOX5_chr12_23524504_23954670 | 23540384 | TAATAATA others(1): Show |
T | intron_variant | MODIFIER | HG02818.hp1 HG02922.hp2 HG03486.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0081a0001c0001t0084 | a0001c0001t0016g0088 a0001c0001t0016g0147 a0001c0001t0016g0199 others(2): Show |
5 | 212 | 0.0236 | -8 | c.177 others(27): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 13/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23588721 | GCACACAC others(1): Show |
G | intron_variant | MODIFIER | HG00597.hp2 HG01243.hp2 HG03017.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0075a0001c0001t0105 | a0001c0001t0001g0150 a0001c0001t0075g0073 a0001c0001t0105g0063 |
3 | 212 | 0.0142 | -8 | c.116 others(29): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 9/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23653018 | GAATGTAC others(1): Show |
G | intron_variant | MODIFIER | HG02622.hp1 HG02723.hp2 HG02976.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0001t0101a0001c0003t0088 | a0001c0001t0004g0025 a0001c0001t0004g0210 a0001c0001t0101g0145 others(1): Show |
4 | 212 | 0.0189 | -8 | c.932 others(27): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 7/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23653026 | AGATAGAT others(1): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02647.hp1 HG03225.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0036a0001c0001t0060a0001c0006t0007 | a0001c0001t0036g0112 a0001c0001t0060g0156 a0001c0006t0007g0115 |
3 | 212 | 0.0142 | -8 | c.932 others(27): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 7/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23704687 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG01891.hp1 HG01891.hp2 others(29): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(20): Show | a0001c0001t0001g0084 a0001c0001t0001g0092 a0001c0001t0001g0108 others(29): Show |
32 | 212 | 0.1509 | -8 | c.810 others(27): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 6/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23759022 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG03579.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0027 | a0001c0001t0004g0148 a0001c0001t0027g0146 |
2 | 212 | 0.0094 | -8 | c.482 others(25): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 3/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23759030 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG00609.hp1 others(132): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(89): Show | a0001c0001t0001g0084 a0001c0001t0001g0114 a0001c0001t0001g0150 others(132): Show |
135 | 212 | 0.6368 | -8 | c.482 others(25): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 3/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23779955 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG02040.hp1 HG02602.hp2 HG02698.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0009a0001c0001t0014a0001c0001t0062others(2): Show | a0001c0001t0009g0053 a0001c0001t0014g0128 a0001c0001t0062g0089 others(2): Show |
5 | 212 | 0.0236 | -8 | c.482 others(27): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 3/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23790535 | CTCTCTCA others(1): Show |
C | intron_variant | MODIFIER | HG01496.hp2 HG02738.hp1 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0031 | a0001c0001t0011g0131 a0001c0001t0031g0005 |
2 | 212 | 0.0094 | -8 | c.482 others(27): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 3/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23804915 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG01106.hp2 HG01167.hp2 HG01516.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0157 a0001c0001t0002g0105 a0001c0001t0004g0030 others(7): Show |
10 | 212 | 0.0472 | -8 | c.481 others(27): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 3/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23863793 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02132.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0007a0001c0001t0008others(9): Show | a0001c0001t0004g0025 a0001c0001t0007g0023 a0001c0001t0008g0067 others(9): Show |
12 | 212 | 0.0566 | -8 | c.271 others(27): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 2/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23923293 | AAATGAAT others(1): Show |
A | intron_variant | MODIFIER | HG02622.hp2 HG02922.hp1 HG03225.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0054others(2): Show | a0001c0001t0001g0155 a0001c0001t0003g0153 a0001c0001t0054g0154 others(2): Show |
5 | 212 | 0.0236 | -8 | c.38+ others(25): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 1/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23940745 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG02622.hp2 HG03225.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0054 | a0001c0001t0002g0201 a0001c0001t0003g0153 a0001c0001t0054g0154 |
3 | 212 | 0.0142 | -8 | c.38+ others(23): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 1/14 | chr12 | TogoVar |