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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SAMD15_chr14_77372379_77397163 | 77372944 | ATATATAT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00733.hp2 HG01243.hp1 others(3): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0002a0003c0003t0003 | a0002c0002t0002g0039a0003c0003t0003g0002a0003c0003t0003g0011others(3): Show | 6 | 314 | 0.0191 | -9 | c.-44 others(20): Show |
SAMD15 | ENSG00000100583.5 | transcript | ENST00000216471.5 | protein_coding | 4434 | chr14 | TogoVar | ||||||
SAMD3_chr6_130139315_130227951 | 130154695 | GAAAAAAA others(2): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG03491.hp1 NA18970.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0047a0001c0001t0001g0152others(6): Show | 10 | 338 | 0.0296 | -9 | c.102 others(26): Show |
SAMD3 | ENSG00000164483.17 | transcript | ENST00000439090.7 | protein_coding | 9/11 | chr6 | TogoVar | ||||||
SAMD3_chr6_130139315_130227951 | 130154711 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG00673.hp1 HG02083.hp2 HG02922.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185a0001c0001t0001g0191a0001c0001t0001g0194others(4): Show | 7 | 338 | 0.0207 | -9 | c.102 others(26): Show |
SAMD3 | ENSG00000164483.17 | transcript | ENST00000439090.7 | protein_coding | 9/11 | chr6 | TogoVar | ||||||
SAMD3_chr6_130139315_130227951 | 130154713 | AAAAAAAT others(2): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00597.hp1 HG00642.hp1 others(65): Show |
a0001a0008 | a0001c0001a0008c0006 | a0001c0001t0001a0008c0006t0001 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0017others(64): Show | 68 | 338 | 0.2012 | -9 | c.102 others(26): Show |
SAMD3 | ENSG00000164483.17 | transcript | ENST00000439090.7 | protein_coding | 9/11 | chr6 | TogoVar | ||||||
SAMD3_chr6_130139315_130227951 | 130178147 | TGTATTTT others(2): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00741.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0114a0001c0001t0001g0168others(2): Show | 6 | 338 | 0.0178 | -9 | c.655 others(26): Show |
SAMD3 | ENSG00000164483.17 | transcript | ENST00000439090.7 | protein_coding | 7/11 | chr6 | TogoVar | ||||||
SAMD3_chr6_130139315_130227951 | 130224592 | TTTATTAT others(2): Show |
T | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00609.hp1 others(88): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(84): Show | 91 | 338 | 0.2692 | -9 | c.-19 others(20): Show |
SAMD3 | ENSG00000164483.17 | transcript | ENST00000439090.7 | protein_coding | 1642 | chr6 | TogoVar | ||||||
SAMD4A_chr14_54562128_54798312 | 54623483 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01192.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0140a0001c0001t0002g0141a0001c0001t0003g0184others(8): Show | 11 | 262 | 0.0420 | -9 | c.196 others(28): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
SAMD4A_chr14_54562128_54798312 | 54653301 | ATATTATT others(2): Show |
A | intron_variant | MODIFIER | HG00621.hp2 HG00733.hp2 HG01074.hp1 others(48): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0052a0001c0001t0001g0057a0001c0001t0001g0076others(48): Show | 51 | 262 | 0.1947 | -9 | c.197 others(28): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
SAMD4B_chr19_39337421_39390700 | 39339712 | CACACACA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG02258.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0140a0001c0001t0002g0158 | 2 | 232 | 0.0086 | -9 | c.-31 others(20): Show |
SAMD4B | ENSG00000179134.16 | transcript | ENST00000610417.5 | protein_coding | 2708 | chr19 | TogoVar | ||||||
SAMD5_chr6_147503690_147575021 | 147515176 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp2 others(119): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(54): Show | a0001c0001t0001g0038a0001c0001t0001g0051a0001c0001t0001g0052others(114): Show | 122 | 364 | 0.3352 | -9 | c.459 others(26): Show |
SAMD5 | ENSG00000203727.4 | transcript | ENST00000367474.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SAMD8_chr10_75106656_75187123 | 75148346 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00609.hp2 NA18945.hp2 NA18955.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0018a0001c0001t0001g0019others(5): Show | 8 | 324 | 0.0247 | -9 | c.-15 others(26): Show |
SAMD8 | ENSG00000156671.15 | transcript | ENST00000542569.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SAMD8_chr10_75106656_75187123 | 75171160 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01433.hp2 HG02451.hp1 HG02818.hp2 others(4): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0005t0003 | a0001c0001t0001g0064a0001c0001t0001g0065a0001c0001t0001g0066others(4): Show | 7 | 324 | 0.0216 | -9 | c.792 others(26): Show |
SAMD8 | ENSG00000156671.15 | transcript | ENST00000542569.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SANBR_chr2_61060871_61129280 | 61076142 | TGCCACCA others(2): Show |
T | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG01192.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0200a0001c0001t0005g0201a0001c0001t0005g0202others(2): Show | 5 | 346 | 0.0145 | -9 | c.432 others(24): Show |
SANBR | ENSG00000162929.14 | transcript | ENST00000402291.6 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SAP18_chr13_21135119_21154097 | 21137484 | TGCTGGCC others(2): Show |
T | upstream_gene_variant | MODIFIER | HG02145.hp1 HG02257.hp2 HG02486.hp1 others(11): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0010 | a0001c0002t0004g0009a0001c0002t0004g0014a0001c0002t0004g0077others(2): Show | 14 | 426 | 0.0329 | -9 | c.-30 others(20): Show |
SAP18 | ENSG00000150459.13 | transcript | ENST00000382533.9 | protein_coding | 2634 | chr13 | TogoVar | ||||||
SAP18_chr13_21135119_21154097 | 21150909 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00597.hp1 others(74): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(6): Show | a0001c0001t0001g0001a0001c0002t0002g0002a0001c0002t0002g0006others(16): Show | 77 | 426 | 0.1808 | -9 | c.*35 others(20): Show |
SAP18 | ENSG00000150459.13 | transcript | ENST00000382533.9 | protein_coding | 1813 | chr13 | TogoVar | ||||||
SAP25_chr7_100567228_100578900 | 100576584 | CAAAGGTA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00639.hp1 HG01167.hp1 HG01169.hp1 others(16): Show |
a0001a0006 | a0001c0001a0001c0003a0001c0010others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0010t0001others(1): Show | a0001c0001t0001g0002a0001c0003t0001g0009a0001c0010t0001g0017others(1): Show | 19 | 386 | 0.0492 | -9 | c.-28 others(20): Show |
SAP25 | ENSG00000205307.12 | transcript | ENST00000622764.3 | protein_coding | 2685 | chr7 | TogoVar | ||||||
SAR1B_chr5_134596149_134637828 | 134598535 | ATTTTTTT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG00642.hp1 others(43): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0007others(42): Show | 46 | 322 | 0.1429 | -9 | c.*84 others(20): Show |
SAR1B | ENSG00000152700.14 | transcript | ENST00000402673.7 | protein_coding | 2613 | chr5 | TogoVar | ||||||
SAR1B_chr5_134596149_134637828 | 134612641 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG01109.hp2 HG01192.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0002g0224a0001c0002t0001g0112a0001c0002t0001g0158others(15): Show | 18 | 322 | 0.0559 | -9 | c.244 others(22): Show |
SAR1B | ENSG00000152700.14 | transcript | ENST00000402673.7 | protein_coding | 4/6 | chr5 | TogoVar | ||||||
SARDH_chr9_133658560_133743352 | 133668543 | CCCTCACC others(2): Show |
C | intron_variant | MODIFIER | NA19043.hp1 NA19085.hp1 NA19240.hp2 |
a0001a0003 | a0001c0027a0003c0032 | a0001c0027t0001a0003c0032t0001 | a0001c0027t0001g0102a0003c0032t0001g0142a0003c0032t0001g0156 | 3 | 262 | 0.0115 | -9 | c.249 others(28): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | ||||||
SARDH_chr9_133658560_133743352 | 133668631 | CCCTCACC others(2): Show |
C | intron_variant | MODIFIER | HG01496.hp1 HG02809.hp1 HG03453.hp2 others(1): Show |
a0002a0003a0004 | a0002c0004a0003c0061a0004c0023 | a0002c0004t0002a0003c0061t0002a0004c0023t0005 | a0002c0004t0002g0009a0002c0004t0002g0022a0003c0061t0002g0225others(1): Show | 4 | 262 | 0.0153 | -9 | c.249 others(28): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | ||||||
SARDH_chr9_133658560_133743352 | 133673598 | TCTAAGTT others(2): Show |
T | intron_variant | MODIFIER | HG03942.hp2 HG04115.hp2 HG04228.hp2 |
a0003 | a0003c0035a0003c0049 | a0003c0035t0004a0003c0049t0003 | a0003c0035t0004g0040a0003c0035t0004g0041a0003c0049t0003g0170 | 3 | 262 | 0.0115 | -9 | c.216 others(28): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 17/20 | chr9 | TogoVar | ||||||
SARS1_chr1_109208918_109243182 | 109222001 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG00673.hp2 HG01070.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0261a0001c0001t0001g0268others(13): Show | 17 | 402 | 0.0423 | -9 | c.137 others(26): Show |
SARS1 | ENSG00000031698.13 | transcript | ENST00000234677.7 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
SARS1_chr1_109208918_109243182 | 109222002 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0006a0001c0001t0001g0014a0001c0001t0001g0264others(19): Show | 25 | 402 | 0.0622 | -9 | c.137 others(26): Show |
SARS1 | ENSG00000031698.13 | transcript | ENST00000234677.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SARS1_chr1_109208918_109243182 | 109222004 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG02572.hp2 HG02723.hp2 HG02965.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0276a0001c0001t0001g0334a0001c0001t0001g0347others(3): Show | 6 | 402 | 0.0149 | -9 | c.137 others(26): Show |
SARS1 | ENSG00000031698.13 | transcript | ENST00000234677.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SART3_chr12_108517214_108566173 | 108541998 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01070.hp2 HG01109.hp2 HG01167.hp1 others(28): Show |
a0001a0002 | a0001c0001a0001c0006a0001c0007others(2): Show | a0001c0001t0001a0001c0006t0001a0001c0007t0002others(2): Show | a0001c0001t0001g0030a0001c0001t0001g0074a0001c0001t0001g0131others(21): Show | 31 | 394 | 0.0787 | -9 | c.906 others(26): Show |
SART3 | ENSG00000075856.12 | transcript | ENST00000546815.6 | protein_coding | 6/18 | chr12 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148382114 | AATCAGCA others(2): Show |
A | intron_variant | MODIFIER | HG01928.hp2 HG02055.hp2 HG02486.hp2 others(11): Show |
a0001a0002a0005 | a0001c0001a0001c0007a0001c0009others(3): Show | a0001c0001t0002a0001c0001t0017a0001c0007t0006others(7): Show | a0001c0001t0002g0218a0001c0001t0002g0222a0001c0001t0002g0251others(11): Show | 14 | 322 | 0.0435 | -9 | c.157 others(26): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SASH1_chr6_148337838_148557044 | 148399214 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00609.hp1 others(33): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0007others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(22): Show | a0001c0001t0001g0046a0001c0001t0002g0001a0001c0001t0002g0142others(33): Show | 36 | 322 | 0.1118 | -9 | c.285 others(26): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SASH1_chr6_148337838_148557044 | 148467088 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00738.hp1 HG01243.hp1 others(19): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0013others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0010others(7): Show | a0001c0001t0001g0011a0001c0001t0001g0166a0001c0001t0001g0289others(19): Show | 22 | 322 | 0.0683 | -9 | c.387 others(26): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SAT1_chrX_23778173_23791210 | 23781874 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG01516.hp2 HG02109.hp2 HG02683.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(5): Show | 15 | 330 | 0.0455 | -9 | c.-14 others(20): Show |
SAT1 | ENSG00000130066.17 | transcript | ENST00000379270.5 | protein_coding | 1298 | chrX | TogoVar | ||||||
SATB1_chr3_18340377_18430339 | 18344358 | ATTTTTTT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(103): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0008a0001c0001t0001g0011a0001c0001t0001g0012others(98): Show | 106 | 352 | 0.3011 | -9 | c.*48 others(20): Show |
SATB1 | ENSG00000182568.18 | transcript | ENST00000338745.11 | protein_coding | 1018 | chr3 | TogoVar | ||||||
SATB2_chr2_199264505_199462939 | 199409649 | AGTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG01099.hp2 HG01433.hp1 HG01433.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032a0001c0001t0002g0079a0001c0001t0002g0162others(5): Show | 8 | 254 | 0.0315 | -9 | c.346 others(28): Show |
SATB2 | ENSG00000119042.18 | transcript | ENST00000417098.6 | protein_coding | 3/10 | chr2 | TogoVar | ||||||
SATL1_chrX_85087284_85248779 | 85200067 | ATAAATAT others(2): Show |
A | intron_variant | MODIFIER | NA18967.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0123 | 1 | 232 | 0.0043 | -9 | c.-31 others(30): Show |
SATL1 | ENSG00000184788.14 | transcript | ENST00000644105.2 | protein_coding | 2/7 | chrX | TogoVar | ||||||
SATL1_chrX_85087284_85248779 | 85200100 | ATTAAAAA others(2): Show |
A | intron_variant | MODIFIER | NA18967.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0123 | 1 | 232 | 0.0043 | -9 | c.-31 others(30): Show |
SATL1 | ENSG00000184788.14 | transcript | ENST00000644105.2 | protein_coding | 2/7 | chrX | TogoVar | ||||||
SATL1_chrX_85087284_85248779 | 85210397 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00738.hp1 HG01167.hp1 others(35): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0004others(2): Show | a0001c0001t0002a0001c0001t0004a0002c0002t0002others(3): Show | a0001c0001t0002g0019a0001c0001t0002g0021a0001c0001t0002g0022others(35): Show | 38 | 232 | 0.1638 | -9 | c.-31 others(30): Show |
SATL1 | ENSG00000184788.14 | transcript | ENST00000644105.2 | protein_coding | 2/7 | chrX | TogoVar | ||||||
SATL1_chrX_85087284_85248779 | 85220644 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | NA18952.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0112 | 1 | 232 | 0.0043 | -9 | c.-31 others(28): Show |
SATL1 | ENSG00000184788.14 | transcript | ENST00000644105.2 | protein_coding | 2/7 | chrX | TogoVar | ||||||
SAXO1_chr9_18922650_19038209 | 18977993 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG03654.hp1 NA18990.hp1 NA18993.hp1 others(3): Show |
a0001a0003a0013 | a0001c0001a0003c0003a0013c0011 | a0001c0001t0003a0003c0003t0005a0013c0011t0005 | a0001c0001t0003g0186a0003c0003t0005g0169a0003c0003t0005g0170others(3): Show | 6 | 364 | 0.0165 | -9 | c.39- others(26): Show |
SAXO1 | ENSG00000155875.15 | transcript | ENST00000380534.9 | protein_coding | 1/3 | chr9 | TogoVar | ||||||
SAXO1_chr9_18922650_19038209 | 19010149 | AAACAACA others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(159): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0006a0001c0027others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(41): Show | a0001c0001t0001g0242a0001c0001t0001g0243a0001c0001t0001g0244others(157): Show | 162 | 364 | 0.4451 | -9 | c.38+ others(26): Show |
SAXO1 | ENSG00000155875.15 | transcript | ENST00000380534.9 | protein_coding | 1/3 | chr9 | TogoVar | ||||||
SBF1_chr22_50440000_50480035 | 50474965 | CGCGGCGG others(2): Show |
C | 5_prime_UTR_variant | MODIFIER | HG00423.hp2 HG00673.hp2 HG01884.hp1 others(45): Show |
a0001a0002a0009others(2): Show | a0001c0001a0001c0002a0001c0008others(14): Show | a0001c0001t0018a0001c0001t0161a0001c0002t0034others(27): Show | a0001c0001t0018g0010a0001c0001t0018g0351a0001c0001t0018g0352others(43): Show | 48 | 402 | 0.1194 | -9 | c.-13 others(18): Show |
SBF1 | ENSG00000100241.22 | transcript | ENST00000380817.8 | protein_coding | 1/41 | 126 | chr22 | TogoVar | |||||
SBF2_chr11_9773668_10299219 | 9865563 | GCCTGTAA others(2): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00544.hp2 others(68): Show |
a0001a0003a0007others(1): Show | a0001c0001a0001c0003a0001c0007others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0030a0001c0001t0001g0035a0001c0001t0001g0039others(68): Show | 71 | 224 | 0.3170 | -9 | c.193 others(28): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 17/39 | chr11 | TogoVar | ||||||
SBF2_chr11_9773668_10299219 | 10182750 | GTTGTTGT others(2): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG01346.hp2 HG01943.hp2 others(8): Show |
a0001a0006 | a0001c0001a0001c0005a0006c0009 | a0001c0001t0002a0001c0001t0005a0001c0001t0018others(3): Show | a0001c0001t0002g0196a0001c0001t0002g0200a0001c0001t0005g0202others(8): Show | 11 | 224 | 0.0491 | -9 | c.141 others(28): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 2/39 | chr11 | TogoVar | ||||||
SBF2_chr11_9773668_10299219 | 10196857 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG03130.hp1 HG03225.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0185a0001c0001t0005g0206a0001c0001t0005g0207 | 3 | 224 | 0.0134 | -9 | c.56- others(24): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 1/39 | chr11 | TogoVar | ||||||
SBNO1_chr12_123284109_123369847 | 123294868 | GTAACAAC others(2): Show |
G | 3_prime_UTR_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG01884.hp1 others(26): Show |
a0001 | a0001c0005a0001c0008a0001c0012 | a0001c0005t0006a0001c0005t0012a0001c0005t0015others(10): Show | a0001c0005t0006g0104a0001c0005t0006g0105a0001c0005t0006g0106others(26): Show | 29 | 260 | 0.1115 | -9 | c.*10 others(20): Show |
SBNO1 | ENSG00000139697.14 | transcript | ENST00000602398.3 | protein_coding | 32/32 | 1031 | chr12 | TogoVar | |||||
SBNO1_chr12_123284109_123369847 | 123357068 | GTGTGCAG others(2): Show |
G | intron_variant | MODIFIER | HG02280.hp2 HG02922.hp1 HG03041.hp1 |
a0004 | a0004c0009 | a0004c0009t0014a0004c0009t0062a0004c0009t0075 | a0004c0009t0014g0082a0004c0009t0062g0087a0004c0009t0075g0088 | 3 | 260 | 0.0115 | -9 | c.1-6 others(22): Show |
SBNO1 | ENSG00000139697.14 | transcript | ENST00000602398.3 | protein_coding | 1/31 | chr12 | TogoVar | ||||||
SBSN_chr19_35518367_35533311 | 35522479 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG02257.hp2 HG02559.hp2 HG02572.hp2 others(3): Show |
a0001a0003 | a0001c0003a0003c0016 | a0001c0003t0001a0003c0016t0001 | a0001c0003t0001g0012a0001c0003t0001g0033a0001c0003t0001g0082others(2): Show | 6 | 450 | 0.0133 | -9 | c.*10 others(20): Show |
SBSN | ENSG00000189001.11 | transcript | ENST00000452271.7 | protein_coding | 887 | chr19 | TogoVar | ||||||
SCAF8_chr6_154728416_154839221 | 154790489 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01255.hp2 HG01975.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0090a0001c0001t0001g0140a0001c0001t0004g0197others(3): Show | 6 | 282 | 0.0213 | -9 | c.322 others(26): Show |
SCAF8 | ENSG00000213079.10 | transcript | ENST00000367178.8 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SCAF8_chr6_154728416_154839221 | 154831703 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00597.hp1 HG01496.hp2 HG01884.hp2 others(5): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0003 | a0001c0001t0002a0001c0002t0002a0003c0003t0002 | a0001c0001t0002g0024a0001c0001t0002g0038a0001c0001t0002g0076others(5): Show | 8 | 282 | 0.0284 | -9 | c.236 others(26): Show |
SCAF8 | ENSG00000213079.10 | transcript | ENST00000367178.8 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SCAI_chr9_124937608_125148528 | 125004764 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG02559.hp2 HG02615.hp2 NA18957.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0010a0001c0003t0004others(3): Show | a0001c0001t0003g0031a0001c0001t0010g0214a0001c0003t0004g0116others(5): Show | 8 | 306 | 0.0261 | -9 | c.862 others(26): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 9/17 | chr9 | TogoVar | ||||||
SCAI_chr9_124937608_125148528 | 125004770 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG01952.hp2 HG01981.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0006a0001c0003t0004others(2): Show | a0001c0001t0002g0193a0001c0001t0002g0194a0001c0001t0006g0223others(3): Show | 6 | 306 | 0.0196 | -9 | c.862 others(26): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 9/17 | chr9 | TogoVar | ||||||
SCAI_chr9_124937608_125148528 | 125122588 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00438.hp1 others(72): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(26): Show | a0001c0001t0002g0189a0001c0001t0002g0193a0001c0001t0002g0194others(72): Show | 75 | 306 | 0.2451 | -9 | c.98+ others(26): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 2/17 | chr9 | TogoVar | ||||||
SCAMP1_chr5_78355617_78485739 | 78391099 | ACCTTTCC others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00642.hp2 others(104): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(12): Show | a0001c0001t0002g0002a0001c0001t0002g0064a0001c0001t0002g0065others(103): Show | 107 | 332 | 0.3223 | -9 | c.135 others(26): Show |
SCAMP1 | ENSG00000085365.18 | transcript | ENST00000621999.5 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |