view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SAR1B_chr5_134596149_134637828 | 134600327 | CAAAAAAA others(3): Show |
C | downstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0292 | 1 | 322 | 0.0031 | -10 | c.*66 others(21): Show |
SAR1B | ENSG00000152700.14 | transcript | ENST00000402673.7 | protein_coding | 821 | chr5 | TogoVar | |||||||
SAR1B_chr5_134596149_134637828 | 134612641 | TAAAAAAA others(3): Show |
T | intron_variant | MODIFIER | HG00738.hp1 HG01943.hp1 HG03490.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0002t0002a0001c0002t0005others(1): Show | a0001c0001t0002g0081a0001c0002t0002g0020a0001c0002t0002g0023others(3): Show | 6 | 322 | 0.0186 | -10 | c.244 others(23): Show |
SAR1B | ENSG00000152700.14 | transcript | ENST00000402673.7 | protein_coding | 4/6 | chr5 | TogoVar | |||||||
SARAF_chr8_30058003_30088064 | 30061932 | CAAAAAAA others(3): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00423.hp1 others(201): Show |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(147): Show | 204 | 360 | 0.5667 | -10 | c.*19 others(21): Show |
SARAF | ENSG00000133872.14 | transcript | ENST00000256255.11 | protein_coding | 1070 | chr8 | TogoVar | |||||||
SARAF_chr8_30058003_30088064 | 30074845 | TTGTACAC others(3): Show |
T | intron_variant | MODIFIER | HG00738.hp1 HG01884.hp2 HG03209.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0011a0001c0001t0003g0052a0001c0001t0003g0080 | 5 | 360 | 0.0139 | -10 | c.104 others(25): Show |
SARAF | ENSG00000133872.14 | transcript | ENST00000256255.11 | protein_coding | 1/5 | chr8 | TogoVar | |||||||
SARDH_chr9_133658560_133743352 | 133668275 | GTCCCTCT others(3): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(162): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0006a0001c0007others(41): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(65): Show | a0001c0001t0001g0078a0001c0001t0001g0131a0001c0001t0001g0132others(162): Show | 165 | 262 | 0.6298 | -10 | c.249 others(29): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | |||||||
SARDH_chr9_133658560_133743352 | 133668565 | ACCCTCCC others(3): Show |
A | intron_variant | MODIFIER | HG02809.hp1 HG03453.hp2 |
a0003a0004 | a0003c0061a0004c0023 | a0003c0061t0002a0004c0023t0005 | a0003c0061t0002g0225a0004c0023t0005g0002 | 2 | 262 | 0.0076 | -10 | c.249 others(29): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | |||||||
SARDH_chr9_133658560_133743352 | 133668641 | CCCTCTCC others(3): Show |
C | intron_variant | MODIFIER | HG01943.hp2 HG03239.hp1 |
a0002 | a0002c0018 | a0002c0018t0003 | a0002c0018t0003g0124a0002c0018t0003g0127 | 2 | 262 | 0.0076 | -10 | c.249 others(29): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | |||||||
SARDH_chr9_133658560_133743352 | 133668764 | TCTCCCCT others(3): Show |
T | intron_variant | MODIFIER | HG01943.hp2 HG03239.hp1 HG03492.hp2 |
a0002 | a0002c0002a0002c0018 | a0002c0002t0003a0002c0018t0003 | a0002c0002t0003g0163a0002c0018t0003g0124a0002c0018t0003g0127 | 3 | 262 | 0.0115 | -10 | c.249 others(29): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | |||||||
SARDH_chr9_133658560_133743352 | 133668877 | CCTCTCCC others(3): Show |
C | intron_variant | MODIFIER | NA19077.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0035 | 1 | 262 | 0.0038 | -10 | c.249 others(29): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | |||||||
SARDH_chr9_133658560_133743352 | 133669022 | CCTCTCCC others(3): Show |
C | intron_variant | MODIFIER | NA19003.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0033 | 1 | 262 | 0.0038 | -10 | c.249 others(29): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | |||||||
SARDH_chr9_133658560_133743352 | 133669119 | CCTCTCTC others(3): Show |
C | intron_variant | MODIFIER | HG02622.hp2 NA18906.hp1 |
a0003 | a0003c0022 | a0003c0022t0002 | a0003c0022t0002g0028a0003c0022t0002g0031 | 2 | 262 | 0.0076 | -10 | c.249 others(29): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | |||||||
SARDH_chr9_133658560_133743352 | 133691169 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | NA18980.hp1 NA19067.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0184a0002c0002t0001g0185 | 2 | 262 | 0.0076 | -10 | c.192 others(27): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 15/20 | chr9 | TogoVar | |||||||
SARDH_chr9_133658560_133743352 | 133722642 | GCTCTCTC others(3): Show |
G | intron_variant | MODIFIER | HG02135.hp1 NA19003.hp2 |
a0001 | a0001c0001a0001c0011 | a0001c0001t0004a0001c0011t0001 | a0001c0001t0004g0071a0001c0011t0001g0108 | 2 | 262 | 0.0076 | -10 | c.916 others(27): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 6/20 | chr9 | TogoVar | |||||||
SARNP_chr12_55752270_55822724 | 55774454 | TCATGCCT others(3): Show |
T | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 276 | 0.0036 | -10 | c.502 others(29): Show |
SARNP | ENSG00000205323.9 | transcript | ENST00000336133.8 | protein_coding | 9/10 | chr12 | TogoVar | |||||||
SARS1_chr1_109208918_109243182 | 109213177 | AATCTCTT others(3): Show |
A | upstream_gene_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 402 | 0.0025 | -10 | c.-81 others(19): Show |
SARS1 | ENSG00000031698.13 | transcript | ENST00000234677.7 | protein_coding | 740 | chr1 | TogoVar | |||||||
SARS1_chr1_109208918_109243182 | 109220372 | CCAGTACT others(3): Show |
C | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 402 | 0.0025 | -10 | c.137 others(27): Show |
SARS1 | ENSG00000031698.13 | transcript | ENST00000234677.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SARS1_chr1_109208918_109243182 | 109221970 | GTATATAT others(3): Show |
G | intron_variant | MODIFIER | HG01074.hp2 NA18997.hp2 NA19070.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0271a0001c0001t0001g0278a0001c0001t0001g0341 | 3 | 402 | 0.0075 | -10 | c.137 others(27): Show |
SARS1 | ENSG00000031698.13 | transcript | ENST00000234677.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SARS1_chr1_109208918_109243182 | 109222002 | ATATATAT others(3): Show |
A | intron_variant | MODIFIER | HG02738.hp1 HG02896.hp2 NA19060.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0269a0001c0001t0001g0307a0001c0001t0001g0367others(1): Show | 4 | 402 | 0.0100 | -10 | c.137 others(27): Show |
SARS1 | ENSG00000031698.13 | transcript | ENST00000234677.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SARS1_chr1_109208918_109243182 | 109222004 | ATATATAT others(3): Show |
A | intron_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0275 | 1 | 402 | 0.0025 | -10 | c.137 others(27): Show |
SARS1 | ENSG00000031698.13 | transcript | ENST00000234677.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SARS2_chr19_38910266_38935763 | 38920872 | TAGACACA others(3): Show |
T | intron_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0150 | 1 | 420 | 0.0024 | -10 | c.589 others(25): Show |
SARS2 | ENSG00000104835.15 | transcript | ENST00000221431.11 | protein_coding | 5/15 | chr19 | TogoVar | |||||||
SARS2_chr19_38910266_38935763 | 38920948 | CACAGACA others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(111): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0006others(1): Show | a0001c0001t0001g0010a0001c0001t0001g0022a0001c0001t0001g0050others(55): Show | 114 | 420 | 0.2714 | -10 | c.589 others(25): Show |
SARS2 | ENSG00000104835.15 | transcript | ENST00000221431.11 | protein_coding | 5/15 | chr19 | TogoVar | |||||||
SASH1_chr6_148337838_148557044 | 148349242 | TTCTTTCT others(3): Show |
T | intron_variant | MODIFIER | HG00609.hp1 HG01928.hp2 HG02145.hp1 others(12): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0001c0015others(3): Show | a0001c0001t0027a0001c0003t0001a0001c0003t0002others(9): Show | a0001c0001t0027g0235a0001c0003t0001g0135a0001c0003t0002g0138others(12): Show | 15 | 322 | 0.0466 | -10 | c.156 others(27): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148349252 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02717.hp2 HG02965.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0011a0001c0007t0005 | a0001c0001t0011g0321a0001c0007t0005g0322 | 2 | 322 | 0.0062 | -10 | c.156 others(27): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148396478 | GAAAAAAA others(3): Show |
G | intron_variant | MODIFIER | HG03486.hp2 | a0002 | a0002c0004 | a0002c0004t0011 | a0002c0004t0011g0279 | 1 | 322 | 0.0031 | -10 | c.285 others(27): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148399214 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00597.hp2 HG00738.hp2 others(65): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0009others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(32): Show | a0001c0001t0001g0107a0001c0001t0001g0151a0001c0001t0001g0177others(65): Show | 68 | 322 | 0.2112 | -10 | c.285 others(27): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148411166 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02970.hp2 HG03516.hp1 |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0281a0002c0002t0004g0282 | 2 | 322 | 0.0062 | -10 | c.285 others(29): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148443143 | GAAAAAAA others(3): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(97): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0007others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(49): Show | a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0107others(97): Show | 100 | 322 | 0.3106 | -10 | c.386 others(27): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148458983 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG01175.hp1 HG01255.hp1 HG01261.hp1 others(9): Show |
a0001a0002a0011 | a0001c0001a0001c0007a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0013a0001c0007t0002others(5): Show | a0001c0001t0002g0021a0001c0001t0002g0022a0001c0001t0002g0242others(9): Show | 12 | 322 | 0.0373 | -10 | c.387 others(27): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148486936 | AATATATA others(3): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG01069.hp1 HG01516.hp2 others(12): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0007others(5): Show | a0001c0001t0032a0001c0003t0001a0001c0003t0004others(11): Show | a0001c0001t0032g0252a0001c0003t0001g0044a0001c0003t0001g0054others(12): Show | 15 | 322 | 0.0466 | -10 | c.628 others(25): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148489850 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp2 HG00639.hp1 others(47): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(19): Show | a0001c0001t0001g0046a0001c0001t0001g0101a0001c0001t0001g0156others(47): Show | 50 | 322 | 0.1553 | -10 | c.729 others(27): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148511324 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG00741.hp1 others(9): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0007a0001c0013others(4): Show | a0001c0001t0001a0001c0001t0007a0001c0007t0005others(7): Show | a0001c0001t0001g0151a0001c0001t0007g0304a0001c0007t0005g0062others(9): Show | 12 | 322 | 0.0373 | -10 | c.730 others(27): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148526046 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01192.hp2 HG01891.hp2 HG02145.hp1 others(10): Show |
a0001a0006 | a0001c0001a0001c0003a0006c0012 | a0001c0001t0014a0001c0003t0005a0001c0003t0007others(2): Show | a0001c0001t0014g0249a0001c0003t0005g0097a0001c0003t0005g0122others(10): Show | 13 | 322 | 0.0404 | -10 | c.128 others(27): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 11/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148537776 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp1 HG02257.hp2 others(12): Show |
a0001a0002a0009others(1): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(12): Show | a0001c0001t0001g0243a0001c0001t0005g0307a0001c0001t0006g0181others(12): Show | 15 | 322 | 0.0466 | -10 | c.209 others(29): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 16/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH3_chrX_129774949_129800201 | 129789149 | GAAAGAAA others(3): Show |
G | intron_variant | MODIFIER | HG02040.hp1 NA18939.hp1 NA18950.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0021a0001c0001t0001g0076others(1): Show | 11 | 307 | 0.0358 | -10 | c.300 others(25): Show |
SASH3 | ENSG00000122122.10 | transcript | ENST00000356892.4 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SAT1_chrX_23778173_23791210 | 23781874 | CAAAAAAA others(3): Show |
C | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00642.hp1 others(57): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(18): Show | 60 | 330 | 0.1818 | -10 | c.-14 others(21): Show |
SAT1 | ENSG00000130066.17 | transcript | ENST00000379270.5 | protein_coding | 1298 | chrX | TogoVar | |||||||
SAT2_chr17_7621234_7632821 | 7629375 | CTAAAATA others(3): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(118): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0002others(1): Show | a0001c0001t0001g0001a0001c0002t0001g0002a0001c0004t0002g0004others(1): Show | 121 | 432 | 0.2801 | -10 | c.-17 others(21): Show |
SAT2 | ENSG00000141504.12 | transcript | ENST00000269298.10 | protein_coding | 1555 | chr17 | TogoVar | |||||||
SATB1_chr3_18340377_18430339 | 18344358 | ATTTTTTT others(3): Show |
A | downstream_gene_variant | MODIFIER | HG01943.hp1 NA18941.hp1 NA18941.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0021others(4): Show | a0001c0001t0001g0162a0001c0001t0005g0006a0001c0001t0021g0123others(6): Show | 9 | 352 | 0.0256 | -10 | c.*48 others(21): Show |
SATB1 | ENSG00000182568.18 | transcript | ENST00000338745.11 | protein_coding | 1018 | chr3 | TogoVar | |||||||
SATB1_chr3_18340377_18430339 | 18346578 | TTGTGTGT others(3): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00621.hp1 others(20): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0012a0001c0001t0015a0001c0001t0016others(5): Show | a0001c0001t0012g0238a0001c0001t0012g0239a0001c0001t0012g0240others(16): Show | 23 | 352 | 0.0653 | -10 | c.*25 others(21): Show |
SATB1 | ENSG00000182568.18 | transcript | ENST00000338745.11 | protein_coding | 11/11 | 2582 | chr3 | TogoVar | ||||||
SATB1_chr3_18340377_18430339 | 18392562 | TATACACA others(3): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(71): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0200a0001c0001t0002g0222a0001c0001t0002g0223others(66): Show | 74 | 352 | 0.2102 | -10 | c.120 others(29): Show |
SATB1 | ENSG00000182568.18 | transcript | ENST00000338745.11 | protein_coding | 7/10 | chr3 | TogoVar | |||||||
SATB2_chr2_199264505_199462939 | 199386694 | AAGCGCGC others(3): Show |
A | intron_variant | MODIFIER | HG02572.hp1 HG03098.hp1 HG03195.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0068a0001c0001t0002g0150a0001c0001t0006g0204others(1): Show | 4 | 254 | 0.0158 | -10 | c.347 others(27): Show |
SATB2 | ENSG00000119042.18 | transcript | ENST00000417098.6 | protein_coding | 3/10 | chr2 | TogoVar | |||||||
SATB2_chr2_199264505_199462939 | 199386716 | GCACACAC others(3): Show |
G | intron_variant | MODIFIER | HG02486.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0022 | a0001c0001t0001g0091a0001c0001t0022g0020 | 2 | 254 | 0.0079 | -10 | c.347 others(27): Show |
SATB2 | ENSG00000119042.18 | transcript | ENST00000417098.6 | protein_coding | 3/10 | chr2 | TogoVar | |||||||
SATB2_chr2_199264505_199462939 | 199403337 | GTTGTATA others(3): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG02145.hp2 HG02486.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0008a0001c0001t0011others(2): Show | a0001c0001t0005g0011a0001c0001t0005g0012a0001c0001t0005g0014others(10): Show | 13 | 254 | 0.0512 | -10 | c.347 others(29): Show |
SATB2 | ENSG00000119042.18 | transcript | ENST00000417098.6 | protein_coding | 3/10 | chr2 | TogoVar | |||||||
SATL1_chrX_85087284_85248779 | 85156813 | TTATATAT others(3): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG01081.hp2 HG01256.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0141a0002c0002t0001g0155a0002c0002t0001g0229others(3): Show | 6 | 232 | 0.0259 | -10 | c.-31 others(31): Show |
SATL1 | ENSG00000184788.14 | transcript | ENST00000644105.2 | protein_coding | 2/7 | chrX | TogoVar | |||||||
SATL1_chrX_85087284_85248779 | 85166935 | ATGTGTAT others(3): Show |
A | intron_variant | MODIFIER | HG00673.hp1 HG01981.hp1 HG02071.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0003 | a0001c0001t0003g0006a0002c0002t0003g0003a0002c0002t0003g0004others(8): Show | 11 | 232 | 0.0474 | -10 | c.-31 others(31): Show |
SATL1 | ENSG00000184788.14 | transcript | ENST00000644105.2 | protein_coding | 2/7 | chrX | TogoVar | |||||||
SATL1_chrX_85087284_85248779 | 85210397 | TAAAAAAA others(3): Show |
T | intron_variant | MODIFIER | HG01168.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0025 | 1 | 232 | 0.0043 | -10 | c.-31 others(31): Show |
SATL1 | ENSG00000184788.14 | transcript | ENST00000644105.2 | protein_coding | 2/7 | chrX | TogoVar | |||||||
SATL1_chrX_85087284_85248779 | 85220644 | TAAAAAAA others(3): Show |
T | intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 232 | 0.0043 | -10 | c.-31 others(29): Show |
SATL1 | ENSG00000184788.14 | transcript | ENST00000644105.2 | protein_coding | 2/7 | chrX | TogoVar | |||||||
SAXO1_chr9_18922650_19038209 | 18960219 | TGGGACGC others(3): Show |
T | intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0336 | 1 | 364 | 0.0028 | -10 | c.39- others(25): Show |
SAXO1 | ENSG00000155875.15 | transcript | ENST00000380534.9 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
SAXO1_chr9_18922650_19038209 | 18977993 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01074.hp2 HG01081.hp2 HG01891.hp2 others(22): Show |
a0002a0003a0004others(4): Show | a0002c0002a0003c0003a0004c0004others(4): Show | a0002c0002t0025a0003c0003t0002a0003c0003t0003others(16): Show | a0002c0002t0025g0013a0003c0003t0002g0027a0003c0003t0003g0176others(22): Show | 25 | 364 | 0.0687 | -10 | c.39- others(27): Show |
SAXO1 | ENSG00000155875.15 | transcript | ENST00000380534.9 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
SAXO1_chr9_18922650_19038209 | 18993050 | TAGGCCTT others(3): Show |
T | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0083 | 1 | 364 | 0.0028 | -10 | c.38+ others(27): Show |
SAXO1 | ENSG00000155875.15 | transcript | ENST00000380534.9 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
SBDS_chr7_66982680_67000586 | 66983916 | ATTTTTTT others(3): Show |
A | downstream_gene_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 438 | 0.0023 | -10 | c.*44 others(21): Show |
SBDS | ENSG00000126524.12 | transcript | ENST00000246868.7 | protein_coding | 3763 | chr7 | TogoVar |