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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SOST_chr17_43748738_43763791 | 43749388 | TCACACA | T | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG01123.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0002g0001 others(3): Show |
29 | 422 | 0.0687 | -6 | c.*59 others(17): Show |
SOST | ENSG00000167941.3 | transcript | ENST00000301691.3 | protein_coding | 4349 | chr17 | TogoVar | |||||||
SOWAHA_chr5_132808302_132821786 | 132820737 | CTTTTTT | C | downstream_gene_variant | MODIFIER | HG00735.hp2 HG01123.hp1 HG01168.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0000 a0002c0002t0002g0000 |
13 | 404 | 0.0322 | -6 | c.*54 others(17): Show |
SOWAHA | ENSG00000198944.6 | transcript | ENST00000378693.4 | protein_coding | 3952 | chr5 | TogoVar | |||||||
SOWAHD_chrX_119753588_119765202 | 119755349 | CTTTTTT | C | upstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0000 | 1 | 322 | 0.0031 | -6 | c.-33 others(17): Show |
SOWAHD | ENSG00000187808.5 | transcript | ENST00000343905.5 | protein_coding | 3238 | chrX | TogoVar | |||||||
SOX10_chr22_37967312_37989555 | 37985818 | AACACAC | A | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(154): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(29): Show |
157 | 336 | 0.4673 | -6 | c.-15 others(17): Show |
SOX10 | ENSG00000100146.20 | transcript | ENST00000396884.8 | protein_coding | 1264 | chr22 | TogoVar | |||||||
SOX11_chr2_5687384_5706385 | 5688834 | TTGTGTG | T | upstream_gene_variant | MODIFIER | HG03927.hp2 NA19005.hp2 NA19066.hp1 |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0081 | a0001c0001t0013g0000 a0001c0001t0081g0000 |
3 | 434 | 0.0069 | -6 | c.-38 others(17): Show |
SOX11 | ENSG00000176887.7 | transcript | ENST00000322002.5 | protein_coding | 3549 | chr2 | TogoVar | |||||||
SOX11_chr2_5687384_5706385 | 5699709 | CTTTTTT | C | 3_prime_UTR_variant | MODIFIER | HG01891.hp1 HG02145.hp1 HG02572.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0056a0001c0001t0116a0001c0001t0164others(6): Show | a0001c0001t0056g0000 a0001c0001t0116g0000 a0001c0001t0164g0000 others(6): Show |
10 | 434 | 0.0230 | -6 | c.*56 others(17): Show |
SOX11 | ENSG00000176887.7 | transcript | ENST00000322002.5 | protein_coding | 1/1 | 5675 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SOX13_chr1_204068115_204132743 | 204073975 | TTGTGTG | T | intron_variant | MODIFIER | HG02145.hp1 HG02572.hp2 HG03139.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0291 a0001c0001t0003g0288 a0001c0001t0003g0289 others(5): Show |
8 | 364 | 0.0220 | -6 | c.-2+ others(19): Show |
SOX13 | ENSG00000143842.15 | transcript | ENST00000367204.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SOX17_chr8_54452935_54465892 | 54456005 | CAAAAAA | C | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02145.hp1 HG02451.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0006a0001c0003t0002 | a0001c0001t0001g0006 a0001c0001t0006g0007 a0001c0003t0002g0005 |
6 | 422 | 0.0142 | -6 | c.-21 others(17): Show |
SOX17 | ENSG00000164736.6 | transcript | ENST00000297316.5 | protein_coding | 1929 | chr8 | TogoVar | |||||||
SOX1_chr13_112062149_112076706 | 112068121 | ATGGGCG | A | disruptive_inframe_deletion | MODERATE | HG00673.hp2 HG00733.hp2 HG00738.hp2 others(44): Show |
a0002a0005 | a0002c0002a0002c0003a0002c0013others(1): Show | a0002c0002t0003a0002c0002t0005a0002c0002t0010others(11): Show | a0002c0002t0003g0000 a0002c0002t0005g0000 a0002c0002t0010g0000 others(11): Show |
47 | 388 | 0.1211 | -6 | c.482 others(13): Show |
p.Val others(13): Show |
SOX1 | ENSG00000182968.5 | transcript | ENST00000330949.3 | protein_coding | 1/1 | 992/4558 | 482/1176 | 161/391 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||
SOX21_chr13_94704622_94717545 | 94714606 | TCACACA | T | upstream_gene_variant | MODIFIER | HG02559.hp1 HG02896.hp2 HG03540.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(1): Show | a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0002t0004g0000 others(1): Show |
5 | 436 | 0.0115 | -6 | c.-25 others(17): Show |
SOX21 | ENSG00000125285.6 | transcript | ENST00000376945.4 | protein_coding | 2062 | chr13 | TogoVar | |||||||
SOX30_chr5_157620679_157657438 | 157628365 | TCACACA | T | intron_variant | MODIFIER | HG00140.hp2 HG00738.hp1 HG01069.hp2 others(34): Show |
a0001a0005a0008others(2): Show | a0001c0001a0001c0002a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0118 a0001c0001t0002g0133 a0001c0001t0002g0141 others(31): Show |
37 | 394 | 0.0939 | -6 | c.188 others(25): Show |
SOX30 | ENSG00000039600.11 | transcript | ENST00000265007.11 | protein_coding | 4/4 | chr5 | TogoVar | |||||||
SOX30_chr5_157620679_157657438 | 157631064 | TATATAC | T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(43): Show |
a0001a0007a0012 | a0001c0003a0001c0016a0001c0025others(3): Show | a0001c0003t0001a0001c0016t0001a0001c0025t0001others(3): Show | a0001c0003t0001g0001 a0001c0003t0001g0027 a0001c0003t0001g0142 others(25): Show |
46 | 394 | 0.1168 | -6 | c.188 others(25): Show |
SOX30 | ENSG00000039600.11 | transcript | ENST00000265007.11 | protein_coding | 4/4 | chr5 | TogoVar | |||||||
SOX3_chrX_140497985_140510069 | 140506944 | AGTGTGT | A | upstream_gene_variant | MODIFIER | HG00408.hp1 NA18952.hp1 NA18985.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 4 | 339 | 0.0118 | -6 | c.-18 others(17): Show |
SOX3 | ENSG00000134595.9 | transcript | ENST00000370536.5 | protein_coding | 1876 | chrX | TogoVar | |||||||
SOX3_chrX_140497985_140510069 | 140506974 | TGTGTGC | T | upstream_gene_variant | MODIFIER | HG00609.hp1 HG01358.hp1 HG01517.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0000 a0001c0001t0006g0000 |
8 | 339 | 0.0236 | -6 | c.-19 others(17): Show |
SOX3 | ENSG00000134595.9 | transcript | ENST00000370536.5 | protein_coding | 1906 | chrX | TogoVar | |||||||
SOX3_chrX_140497985_140510069 | 140506976 | TGTGCGC | T | upstream_gene_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 339 | 0.0030 | -6 | c.-19 others(17): Show |
SOX3 | ENSG00000134595.9 | transcript | ENST00000370536.5 | protein_coding | 1908 | chrX | TogoVar | |||||||
SOX3_chrX_140497985_140510069 | 140508957 | AAAAAAG | A | upstream_gene_variant | MODIFIER | HG03710.hp1 NA18975.hp1 NA18998.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 5 | 339 | 0.0148 | -6 | c.-39 others(17): Show |
SOX3 | ENSG00000134595.9 | transcript | ENST00000370536.5 | protein_coding | 3889 | chrX | TogoVar | |||||||
SOX4_chr6_21588751_21603619 | 21588964 | CTTTTTT | C | upstream_gene_variant | MODIFIER | HG01070.hp2 HG02683.hp2 HG03017.hp1 others(3): Show |
a0001a0004 | a0001c0001a0004c0012 | a0001c0001t0006a0001c0001t0016a0004c0012t0006 | a0001c0001t0006g0000 a0001c0001t0016g0000 a0004c0012t0006g0000 |
6 | 356 | 0.0169 | -6 | c.-55 others(17): Show |
SOX4 | ENSG00000124766.7 | transcript | ENST00000244745.4 | protein_coding | 4786 | chr6 | TogoVar | |||||||
SOX4_chr6_21588751_21603619 | 21603288 | ATGTGTG | A | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG01070.hp2 others(5): Show |
a0001a0004 | a0001c0001a0004c0012 | a0001c0001t0003a0001c0001t0006a0001c0001t0016others(2): Show | a0001c0001t0003g0000 a0001c0001t0006g0000 a0001c0001t0016g0000 others(2): Show |
8 | 356 | 0.0225 | -6 | c.*73 others(17): Show |
SOX4 | ENSG00000124766.7 | transcript | ENST00000244745.4 | protein_coding | 4670 | chr6 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23534699 | CTTTTCT | C | intron_variant | MODIFIER | HG00639.hp2 HG01074.hp1 HG01168.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0011a0001c0001t0012others(3): Show | a0001c0001t0010g0003 a0001c0001t0010g0173 a0001c0001t0010g0184 others(7): Show |
10 | 212 | 0.0472 | -6 | c.198 others(23): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 14/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23540361 | TATAATA | T | intron_variant | MODIFIER | HG02109.hp1 HG02257.hp2 HG02622.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0007a0001c0001t0083a0001c0003t0080others(1): Show | a0001c0001t0007g0023 a0001c0001t0007g0198 a0001c0001t0083g0090 others(2): Show |
5 | 212 | 0.0236 | -6 | c.177 others(25): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 13/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23541253 | CTTATAG | C | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0110 a0001c0001t0012g0111 |
2 | 212 | 0.0094 | -6 | c.177 others(25): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 13/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23570930 | AATATAT | A | intron_variant | MODIFIER | HG02258.hp1 HG02965.hp1 HG03239.hp1 others(2): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0026a0001c0001t0076others(2): Show | a0001c0001t0001g0182 a0001c0001t0026g0127 a0001c0001t0076g0163 others(2): Show |
5 | 212 | 0.0236 | -6 | c.134 others(25): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 10/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23588721 | GCACACA | G | intron_variant | MODIFIER | HG00597.hp1 HG00609.hp1 HG00609.hp2 others(142): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(93): Show | a0001c0001t0001g0172 a0001c0001t0002g0006 a0001c0001t0002g0047 others(142): Show |
145 | 212 | 0.6840 | -6 | c.116 others(27): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 9/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23589989 | AGTATGT | A | intron_variant | MODIFIER | HG01433.hp2 HG02698.hp2 |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0085 | a0001c0001t0017g0042 a0001c0001t0085g0029 |
2 | 212 | 0.0094 | -6 | c.116 others(27): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 9/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23600522 | CATATAT | C | intron_variant | MODIFIER | HG02258.hp2 HG02922.hp2 NA19030.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0016a0001c0001t0084a0001c0002t0048 | a0001c0001t0016g0199 a0001c0001t0084g0207 a0001c0002t0048g0113 |
3 | 212 | 0.0142 | -6 | c.116 others(25): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 9/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23607655 | ATAACAG | A | intron_variant | MODIFIER | HG00609.hp1 HG00639.hp2 HG00735.hp1 others(64): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(47): Show | a0001c0001t0001g0150 a0001c0001t0002g0006 a0001c0001t0002g0085 others(64): Show |
67 | 212 | 0.3160 | -6 | c.101 others(25): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 8/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23703727 | GACACAC | G | intron_variant | MODIFIER | HG02976.hp2 NA20805.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0015 | a0001c0001t0002g0201 a0001c0001t0015g0091 a0001c0001t0015g0174 |
3 | 212 | 0.0142 | -6 | c.810 others(25): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 6/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23726118 | CGAGAGA | C | intron_variant | MODIFIER | HG01243.hp1 HG04184.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0044a0001c0001t0084 | a0001c0001t0017g0028 a0001c0001t0044g0206 a0001c0001t0084g0207 |
3 | 212 | 0.0142 | -6 | c.810 others(23): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 6/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23759024 | CACACAG | C | intron_variant | MODIFIER | HG02486.hp1 HG02818.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0036 | a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0036g0117 |
3 | 212 | 0.0142 | -6 | c.482 others(23): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 3/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23759030 | GACACAC | G | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG02258.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0012a0001c0001t0014others(7): Show | a0001c0001t0001g0092 a0001c0001t0001g0108 a0001c0001t0012g0110 others(9): Show |
12 | 212 | 0.0566 | -6 | c.482 others(23): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 3/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23767215 | AACACAC | A | intron_variant | MODIFIER | HG00735.hp1 HG01106.hp2 HG02257.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(9): Show | a0001c0001t0002g0194 a0001c0001t0004g0148 a0001c0001t0004g0209 others(11): Show |
14 | 212 | 0.0660 | -6 | c.482 others(25): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 3/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23779955 | CTGTGTG | C | intron_variant | MODIFIER | HG02647.hp2 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0114 | a0001c0001t0003g0208 a0001c0001t0114g0119 |
2 | 212 | 0.0094 | -6 | c.482 others(25): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 3/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23790542 | AATCTCT | A | intron_variant | MODIFIER | NA18612.hp2 NA18959.hp2 NA19077.hp1 |
a0001 | a0001c0001 | a0001c0001t0069a0001c0001t0102a0001c0001t0106 | a0001c0001t0069g0098 a0001c0001t0102g0016 a0001c0001t0106g0011 |
3 | 212 | 0.0142 | -6 | c.482 others(25): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 3/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23792622 | CAAAAAA | C | intron_variant | MODIFIER | HG00609.hp1 HG02165.hp2 HG04115.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0019a0001c0001t0032a0001c0001t0035others(7): Show | a0001c0001t0019g0075 a0001c0001t0032g0191 a0001c0001t0035g0009 others(8): Show |
11 | 212 | 0.0519 | -6 | c.482 others(25): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 3/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23794251 | CCTAATA | C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01928.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(20): Show | a0001c0001t0001g0166 a0001c0001t0001g0182 a0001c0001t0004g0209 others(22): Show |
25 | 212 | 0.1179 | -6 | c.482 others(25): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 3/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23804915 | TTATATA | T | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01243.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(13): Show | a0001c0001t0001g0080 a0001c0001t0002g0170 a0001c0001t0008g0205 others(13): Show |
16 | 212 | 0.0755 | -6 | c.481 others(25): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 3/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23837273 | ATGTATT | A | intron_variant | MODIFIER | HG00735.hp2 HG01167.hp2 HG01981.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0182 a0001c0001t0002g0047 a0001c0001t0003g0086 others(8): Show |
11 | 212 | 0.0519 | -6 | c.481 others(23): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 3/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23843554 | CTTTTTT | C | intron_variant | MODIFIER | HG01258.hp2 HG02698.hp1 HG02809.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0013a0001c0001t0031others(3): Show | a0001c0001t0004g0030 a0001c0001t0013g0177 a0001c0001t0031g0031 others(3): Show |
6 | 212 | 0.0283 | -6 | c.481 others(23): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 3/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23863793 | TACACAC | T | intron_variant | MODIFIER | HG02896.hp2 NA18522.hp2 NA19010.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0018a0001c0001t0041a0001c0002t0053 | a0001c0001t0018g0169 a0001c0001t0041g0010 a0001c0002t0053g0095 |
3 | 212 | 0.0142 | -6 | c.271 others(25): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 2/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23940745 | TACACAC | T | intron_variant | MODIFIER | HG00639.hp2 HG01169.hp2 HG01891.hp1 others(12): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(11): Show | a0001c0001t0001g0155 a0001c0001t0004g0025 a0001c0001t0004g0030 others(12): Show |
15 | 212 | 0.0708 | -6 | c.38+ others(21): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 1/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23949766 | GTCTCTC | G | upstream_gene_variant | MODIFIER | HG01261.hp2 HG02683.hp1 HG02738.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0016others(2): Show | a0001c0001t0002g0130 a0001c0001t0004g0025 a0001c0001t0016g0147 others(3): Show |
6 | 212 | 0.0283 | -6 | c.-17 others(15): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 97 | chr12 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 15970368 | GTTTGCT | G | 3_prime_UTR_variant | MODIFIER | HG01175.hp2 HG02735.hp2 HG03486.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0013a0001c0002t0039 | a0001c0001t0013g0006 a0001c0001t0013g0023 a0001c0001t0013g0174 others(1): Show |
4 | 218 | 0.0184 | -6 | c.*24 others(17): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 16/16 | 2435 | chr11 | TogoVar | ||||||
SOX6_chr11_15961449_16361546 | 16010125 | TACACAC | T | intron_variant | MODIFIER | HG00408.hp2 HG02155.hp1 HG02572.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0003g0035 a0001c0001t0004g0184 a0001c0001t0004g0193 others(11): Show |
14 | 218 | 0.0642 | -6 | c.173 others(25): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 13/15 | chr11 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16047701 | CGTGTGT | C | intron_variant | MODIFIER | HG01099.hp2 HG01243.hp1 HG02273.hp2 others(10): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(3): Show | a0001c0001t0003g0026 a0001c0001t0003g0035 a0001c0001t0004g0084 others(10): Show |
13 | 218 | 0.0596 | -6 | c.143 others(25): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 11/15 | chr11 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16063496 | TTATATA | T | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG02055.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0002g0079 a0001c0001t0002g0088 a0001c0001t0004g0011 others(6): Show |
9 | 218 | 0.0413 | -6 | c.110 others(25): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 9/15 | chr11 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16158865 | GGTGTGT | G | intron_variant | MODIFIER | HG00544.hp1 HG01069.hp1 HG01106.hp2 others(62): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0002g0051 others(62): Show |
65 | 218 | 0.2982 | -6 | c.777 others(25): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 6/15 | chr11 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16198025 | CTGTTGT | C | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00597.hp2 others(39): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0019 a0001c0001t0001g0074 a0001c0001t0001g0176 others(39): Show |
42 | 218 | 0.1927 | -6 | c.536 others(25): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 4/15 | chr11 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16221451 | ATATAAG | A | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG01099.hp1 others(46): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0002g0131 a0001c0001t0002g0144 a0001c0001t0002g0151 others(46): Show |
49 | 218 | 0.2248 | -6 | c.535 others(25): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 4/15 | chr11 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16283019 | GTATATA | G | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00544.hp2 others(156): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(44): Show | a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0043 others(156): Show |
159 | 218 | 0.7294 | -6 | c.445 others(25): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 3/15 | chr11 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16283089 | GTATATA | G | intron_variant | MODIFIER | HG02293.hp2 HG02622.hp1 HG02630.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0001t0041a0001c0002t0001 | a0001c0001t0009g0038 a0001c0001t0009g0039 a0001c0001t0041g0037 others(2): Show |
5 | 218 | 0.0229 | -6 | c.445 others(25): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 3/15 | chr11 | TogoVar |