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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SASH1_chr6_148337838_148557044 | 148511324 | TACACAC | T | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00609.hp2 others(43): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0007a0001c0009others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(23): Show | a0001c0001t0001g0030 a0001c0001t0001g0309 a0001c0001t0002g0001 others(43): Show |
46 | 322 | 0.1429 | -6 | c.730 others(23): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148529802 | TTTTTTG | T | intron_variant | MODIFIER | HG01081.hp2 HG01891.hp1 HG02055.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0002a0002c0002t0007a0002c0002t0008others(2): Show | a0001c0001t0002g0106 a0001c0001t0002g0127 a0002c0002t0007g0250 others(6): Show |
9 | 322 | 0.0280 | -6 | c.142 others(25): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148537776 | CTGTGTG | C | intron_variant | MODIFIER | HG00099.hp2 HG01167.hp2 HG02486.hp1 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0005a0001c0003t0018a0002c0002t0002others(3): Show | a0001c0001t0005g0221 a0001c0003t0018g0121 a0002c0002t0002g0014 others(3): Show |
6 | 322 | 0.0186 | -6 | c.209 others(25): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 16/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH3_chrX_129774949_129800201 | 129789153 | GAAAGAA | G | intron_variant | MODIFIER | HG00280.hp1 HG01069.hp1 HG01071.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0004 a0001c0001t0001g0102 a0001c0001t0001g0135 others(3): Show |
13 | 307 | 0.0424 | -6 | c.300 others(21): Show |
SASH3 | ENSG00000122122.10 | transcript | ENST00000356892.4 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SAT1_chrX_23778173_23791210 | 23780095 | ATATACT | A | upstream_gene_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 330 | 0.0030 | -6 | c.-32 others(17): Show |
SAT1 | ENSG00000130066.17 | transcript | ENST00000379270.5 | protein_coding | 3077 | chrX | TogoVar | |||||||
SAT1_chrX_23778173_23791210 | 23781874 | CAAAAAA | C | upstream_gene_variant | MODIFIER | HG00544.hp2 HG01069.hp1 HG01071.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0018 |
4 | 330 | 0.0121 | -6 | c.-14 others(17): Show |
SAT1 | ENSG00000130066.17 | transcript | ENST00000379270.5 | protein_coding | 1298 | chrX | TogoVar | |||||||
SATB1_chr3_18340377_18430339 | 18346578 | TTGTGTG | T | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(190): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(53): Show | a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 others(177): Show |
193 | 352 | 0.5483 | -6 | c.*25 others(17): Show |
SATB1 | ENSG00000182568.18 | transcript | ENST00000338745.11 | protein_coding | 11/11 | 2586 | chr3 | TogoVar | ||||||
SATB1_chr3_18340377_18430339 | 18350393 | GATTTAA | G | intron_variant | MODIFIER | HG01168.hp1 HG02015.hp2 HG02809.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0032a0001c0001t0054a0001c0001t0057others(1): Show | a0001c0001t0032g0283 a0001c0001t0032g0284 a0001c0001t0032g0286 others(3): Show |
6 | 352 | 0.0171 | -6 | c.178 others(23): Show |
SATB1 | ENSG00000182568.18 | transcript | ENST00000338745.11 | protein_coding | 10/10 | chr3 | TogoVar | |||||||
SATB1_chr3_18340377_18430339 | 18370571 | GAAAAGA | G | intron_variant | MODIFIER | HG02976.hp1 HG03139.hp2 HG06807.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0035a0001c0001t0120a0001c0003t0122 | a0001c0001t0035g0023 a0001c0001t0035g0321 a0001c0001t0120g0322 others(1): Show |
5 | 352 | 0.0142 | -6 | c.157 others(25): Show |
SATB1 | ENSG00000182568.18 | transcript | ENST00000338745.11 | protein_coding | 9/10 | chr3 | TogoVar | |||||||
SATB1_chr3_18340377_18430339 | 18393989 | AAACAAC | A | intron_variant | MODIFIER | HG02602.hp1 HG03688.hp2 HG03704.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0104a0001c0001t0105others(1): Show | a0001c0001t0023g0307 a0001c0001t0104g0297 a0001c0001t0105g0298 others(1): Show |
4 | 352 | 0.0114 | -6 | c.120 others(23): Show |
SATB1 | ENSG00000182568.18 | transcript | ENST00000338745.11 | protein_coding | 7/10 | chr3 | TogoVar | |||||||
SATB1_chr3_18340377_18430339 | 18404800 | CAAACCA | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(71): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0200 a0001c0001t0002g0222 a0001c0001t0002g0223 others(66): Show |
74 | 352 | 0.2102 | -6 | c.640 others(23): Show |
SATB1 | ENSG00000182568.18 | transcript | ENST00000338745.11 | protein_coding | 5/10 | chr3 | TogoVar | |||||||
SATB2_chr2_199264505_199462939 | 199343113 | TACACAC | T | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00558.hp1 others(105): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0029 a0001c0001t0001g0040 a0001c0001t0001g0042 others(105): Show |
108 | 254 | 0.4252 | -6 | c.117 others(25): Show |
SATB2 | ENSG00000119042.18 | transcript | ENST00000417098.6 | protein_coding | 7/10 | chr2 | TogoVar | |||||||
SATB2_chr2_199264505_199462939 | 199355342 | GTGTATC | G | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG00609.hp2 others(42): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0142 a0001c0001t0002g0045 a0001c0001t0002g0104 others(42): Show |
45 | 254 | 0.1772 | -6 | c.701 others(23): Show |
SATB2 | ENSG00000119042.18 | transcript | ENST00000417098.6 | protein_coding | 6/10 | chr2 | TogoVar | |||||||
SATB2_chr2_199264505_199462939 | 199386694 | AAGCGCG | A | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0040 a0001c0001t0001g0090 a0001c0001t0007g0095 |
3 | 254 | 0.0118 | -6 | c.347 others(23): Show |
SATB2 | ENSG00000119042.18 | transcript | ENST00000417098.6 | protein_coding | 3/10 | chr2 | TogoVar | |||||||
SATB2_chr2_199264505_199462939 | 199459845 | ACTCGCC | A | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(245): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0036 others(245): Show |
248 | 254 | 0.9764 | -6 | c.-25 others(17): Show |
SATB2 | ENSG00000119042.18 | transcript | ENST00000417098.6 | protein_coding | 1907 | chr2 | TogoVar | |||||||
SATL1_chrX_85087284_85248779 | 85088207 | TGTATAA | T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00438.hp2 others(130): Show |
a0001a0009a0010others(2): Show | a0001c0001a0001c0007a0009c0010others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0060 others(128): Show |
133 | 232 | 0.5733 | -6 | c.*41 others(17): Show |
SATL1 | ENSG00000184788.14 | transcript | ENST00000644105.2 | protein_coding | 4076 | chrX | TogoVar | |||||||
SATL1_chrX_85087284_85248779 | 85088316 | GTTTTTT | G | downstream_gene_variant | MODIFIER | HG02257.hp2 HG02976.hp1 HG03130.hp1 others(1): Show |
a0001a0013 | a0001c0001a0013c0014 | a0001c0001t0001a0013c0014t0001 | a0001c0001t0001g0071 a0001c0001t0001g0082 a0001c0001t0001g0083 others(1): Show |
4 | 232 | 0.0172 | -6 | c.*40 others(17): Show |
SATL1 | ENSG00000184788.14 | transcript | ENST00000644105.2 | protein_coding | 3967 | chrX | TogoVar | |||||||
SATL1_chrX_85087284_85248779 | 85156813 | TTATATA | T | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG02145.hp1 others(13): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(4): Show | a0001c0001t0001g0060 a0001c0001t0001g0071 a0001c0001t0001g0074 others(13): Show |
16 | 232 | 0.0690 | -6 | c.-31 others(27): Show |
SATL1 | ENSG00000184788.14 | transcript | ENST00000644105.2 | protein_coding | 2/7 | chrX | TogoVar | |||||||
SATL1_chrX_85087284_85248779 | 85163178 | TTTGTTG | T | intron_variant | MODIFIER | HG00673.hp1 HG00735.hp2 HG00738.hp1 others(54): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0003c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(8): Show | a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 others(54): Show |
57 | 232 | 0.2457 | -6 | c.-31 others(27): Show |
SATL1 | ENSG00000184788.14 | transcript | ENST00000644105.2 | protein_coding | 2/7 | chrX | TogoVar | |||||||
SATL1_chrX_85087284_85248779 | 85166941 | ATGTGTG | A | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG01891.hp1 others(8): Show |
a0001a0003a0012 | a0001c0001a0003c0003a0012c0013 | a0001c0001t0001a0003c0003t0001a0012c0013t0001 | a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 others(8): Show |
11 | 232 | 0.0474 | -6 | c.-31 others(27): Show |
SATL1 | ENSG00000184788.14 | transcript | ENST00000644105.2 | protein_coding | 2/7 | chrX | TogoVar | |||||||
SATL1_chrX_85087284_85248779 | 85181200 | TATACAC | T | intron_variant | MODIFIER | NA19011.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0011 | 1 | 232 | 0.0043 | -6 | c.-31 others(27): Show |
SATL1 | ENSG00000184788.14 | transcript | ENST00000644105.2 | protein_coding | 2/7 | chrX | TogoVar | |||||||
SAV1_chr14_50628580_50673306 | 50634534 | AGAGATG | A | 3_prime_UTR_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008a0001c0001t0010 | a0001c0001t0004g0005 a0001c0001t0004g0040 a0001c0001t0004g0094 others(23): Show |
35 | 390 | 0.0897 | -6 | c.*64 others(15): Show |
SAV1 | ENSG00000151748.15 | transcript | ENST00000324679.5 | protein_coding | 5/5 | 643 | chr14 | TogoVar | ||||||
SAV1_chr14_50628580_50673306 | 50668252 | CGGGCCA | C | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(292): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(15): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(187): Show |
295 | 390 | 0.7564 | -6 | c.-29 others(15): Show |
SAV1 | ENSG00000151748.15 | transcript | ENST00000324679.5 | protein_coding | 1/5 | 286 | chr14 | TogoVar | ||||||
SAXO1_chr9_18922650_19038209 | 18934049 | AAATAAT | A | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00558.hp1 others(31): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(12): Show | a0001c0001t0001g0246 a0001c0001t0001g0300 a0001c0001t0001g0327 others(31): Show |
34 | 364 | 0.0934 | -6 | c.422 others(23): Show |
SAXO1 | ENSG00000155875.15 | transcript | ENST00000380534.9 | protein_coding | 3/3 | chr9 | TogoVar | |||||||
SAXO1_chr9_18922650_19038209 | 18934303 | TTATGAG | T | intron_variant | MODIFIER | HG00558.hp2 HG01516.hp2 HG01517.hp2 others(41): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(20): Show | a0001c0001t0001g0318 a0001c0001t0003g0215 a0001c0001t0004g0041 others(40): Show |
44 | 364 | 0.1209 | -6 | c.422 others(23): Show |
SAXO1 | ENSG00000155875.15 | transcript | ENST00000380534.9 | protein_coding | 3/3 | chr9 | TogoVar | |||||||
SBF1_chr22_50440000_50480035 | 50443687 | CAGCAGA | C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG01433.hp2 HG03704.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0045a0001c0003t0006a0001c0003t0109 | a0001c0002t0045g0167 a0001c0003t0006g0279 a0001c0003t0109g0278 |
3 | 402 | 0.0075 | -6 | c.*34 others(17): Show |
SBF1 | ENSG00000100241.22 | transcript | ENST00000380817.8 | protein_coding | 1312 | chr22 | TogoVar | |||||||
SBF1_chr22_50440000_50480035 | 50444524 | CGGGGTG | C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00423.hp1 others(87): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0069a0001c0001t0075a0001c0001t0078others(49): Show | a0001c0001t0069g0071 a0001c0001t0075g0103 a0001c0001t0078g0104 others(84): Show |
90 | 402 | 0.2239 | -6 | c.*26 others(17): Show |
SBF1 | ENSG00000100241.22 | transcript | ENST00000380817.8 | protein_coding | 475 | chr22 | TogoVar | |||||||
SBF1_chr22_50440000_50480035 | 50449625 | AACACAC | A | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp1 HG02258.hp1 others(5): Show |
a0001 | a0001c0010 | a0001c0010t0019a0001c0010t0168a0001c0010t0170others(1): Show | a0001c0010t0019g0369 a0001c0010t0019g0370 a0001c0010t0019g0372 others(5): Show |
8 | 402 | 0.0199 | -6 | c.504 others(23): Show |
SBF1 | ENSG00000100241.22 | transcript | ENST00000380817.8 | protein_coding | 36/40 | chr22 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 9798024 | TTTATAA | T | intron_variant | MODIFIER | HG00639.hp1 HG00733.hp2 HG02109.hp1 others(12): Show |
a0001 | a0001c0001a0001c0003a0001c0012others(2): Show | a0001c0001t0005a0001c0001t0006a0001c0003t0005others(3): Show | a0001c0001t0005g0143 a0001c0001t0005g0144 a0001c0001t0005g0167 others(12): Show |
15 | 224 | 0.0670 | -6 | c.444 others(25): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 32/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 9826727 | ATATATG | A | intron_variant | MODIFIER | HG00741.hp1 HG01891.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 a0001c0001t0001g0178 |
2 | 224 | 0.0089 | -6 | c.379 others(25): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 28/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 9826729 | ATATGTG | A | intron_variant | MODIFIER | HG00323.hp2 HG00673.hp2 HG00738.hp1 others(56): Show |
a0001a0004a0008others(2): Show | a0001c0001a0001c0003a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(15): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(56): Show |
59 | 224 | 0.2634 | -6 | c.379 others(25): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 28/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 9826731 | ATGTGTG | A | intron_variant | MODIFIER | HG02809.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0171 a0001c0001t0005g0187 |
2 | 224 | 0.0089 | -6 | c.379 others(25): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 28/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 9871470 | CTTATTA | C | intron_variant | MODIFIER | HG01109.hp1 HG02055.hp1 HG02486.hp2 others(10): Show |
a0001a0006 | a0001c0001a0001c0005a0001c0012others(1): Show | a0001c0001t0003a0001c0005t0001a0001c0005t0009others(2): Show | a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0189 others(10): Show |
13 | 224 | 0.0580 | -6 | c.193 others(27): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 17/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 9942903 | GAAAGAA | G | intron_variant | MODIFIER | HG00558.hp2 HG00609.hp2 HG02027.hp1 others(21): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0017 a0001c0001t0001g0077 a0001c0001t0002g0089 others(21): Show |
24 | 224 | 0.1071 | -6 | c.186 others(27): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 16/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 9967971 | CTATATA | C | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00558.hp1 others(29): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0015 a0001c0001t0001g0029 a0001c0001t0001g0030 others(29): Show |
32 | 224 | 0.1429 | -6 | c.160 others(23): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 14/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 10055524 | TACACAC | T | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG00673.hp1 others(40): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0047 a0001c0001t0001g0114 a0001c0001t0001g0123 others(40): Show |
43 | 224 | 0.1920 | -6 | c.142 others(25): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 2/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 10063830 | AACACAC | A | intron_variant | MODIFIER | HG00558.hp2 HG00609.hp2 HG01175.hp1 others(28): Show |
a0001a0002a0009 | a0001c0001a0001c0007a0001c0019others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0017 a0001c0001t0001g0077 a0001c0001t0001g0082 others(28): Show |
31 | 224 | 0.1384 | -6 | c.142 others(25): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 2/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 10072890 | AATTATT | A | intron_variant | MODIFIER | HG02615.hp1 HG02895.hp1 HG02897.hp1 |
a0001a0004 | a0001c0003a0004c0010 | a0001c0003t0002a0004c0010t0001 | a0001c0003t0002g0184 a0004c0010t0001g0169 a0004c0010t0001g0183 |
3 | 224 | 0.0134 | -6 | c.142 others(25): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 2/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 10098679 | GCACACA | G | intron_variant | MODIFIER | HG00544.hp2 HG01099.hp1 HG01109.hp2 others(9): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0006 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0185 a0001c0001t0002g0220 a0001c0001t0002g0221 others(9): Show |
12 | 224 | 0.0536 | -6 | c.142 others(25): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 2/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 10101659 | CTGTGTG | C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00423.hp1 others(82): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0015 a0001c0001t0001g0029 a0001c0001t0001g0030 others(82): Show |
85 | 224 | 0.3795 | -6 | c.142 others(25): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 2/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 10180380 | TTAAGTA | T | intron_variant | MODIFIER | HG01109.hp1 HG01346.hp2 HG01943.hp2 others(8): Show |
a0001a0006 | a0001c0001a0001c0005a0006c0009 | a0001c0001t0002a0001c0001t0005a0001c0001t0018others(3): Show | a0001c0001t0002g0196 a0001c0001t0002g0200 a0001c0001t0005g0202 others(8): Show |
11 | 224 | 0.0491 | -6 | c.141 others(25): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 2/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 10183549 | TTTTACA | T | intron_variant | MODIFIER | HG00741.hp2 HG01070.hp1 HG01071.hp2 others(10): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0001a0001c0003t0002others(2): Show | a0001c0001t0002g0161 a0001c0003t0001g0160 a0001c0003t0001g0165 others(10): Show |
13 | 224 | 0.0580 | -6 | c.141 others(25): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 2/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 10223399 | TTATATA | T | intron_variant | MODIFIER | HG00735.hp2 HG01099.hp2 HG01884.hp1 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0007a0001c0019others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(5): Show | a0001c0001t0002g0190 a0001c0001t0003g0153 a0001c0001t0007g0188 others(8): Show |
11 | 224 | 0.0491 | -6 | c.56- others(23): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 1/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 10254094 | TTAAAAA | T | intron_variant | MODIFIER | HG02615.hp1 HG02895.hp1 HG02897.hp1 |
a0001a0004 | a0001c0003a0004c0010 | a0001c0003t0002a0004c0010t0001 | a0001c0003t0002g0184 a0004c0010t0001g0169 a0004c0010t0001g0183 |
3 | 224 | 0.0134 | -6 | c.55+ others(23): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 1/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 10291657 | AACACAC | A | intron_variant | MODIFIER | HG00639.hp1 HG00673.hp1 HG01243.hp1 others(6): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0002g0166 others(6): Show |
9 | 224 | 0.0402 | -6 | c.55+ others(21): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 1/39 | chr11 | TogoVar | |||||||
SBK1_chr16_28287525_28328849 | 28308740 | GGTGTGT | G | intron_variant | MODIFIER | HG01106.hp1 HG02055.hp2 HG02145.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0047a0001c0001t0052others(8): Show | a0001c0001t0023g0092 a0001c0001t0047g0306 a0001c0001t0052g0240 others(9): Show |
12 | 384 | 0.0313 | -6 | c.-7- others(21): Show |
SBK1 | ENSG00000188322.8 | transcript | ENST00000341901.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SBK1_chr16_28287525_28328849 | 28321182 | AACACAC | A | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG02135.hp1 HG02559.hp2 others(12): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0029a0001c0001t0051a0001c0001t0052others(8): Show | a0001c0001t0029g0006 a0001c0001t0029g0013 a0001c0001t0029g0026 others(12): Show |
15 | 384 | 0.0391 | -6 | c.*31 others(15): Show |
SBK1 | ENSG00000188322.8 | transcript | ENST00000341901.5 | protein_coding | 4/4 | 312 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SBK1_chr16_28287525_28328849 | 28322925 | TCTCTCC | T | 3_prime_UTR_variant | MODIFIER | HG01099.hp1 HG01106.hp1 HG01891.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0013a0001c0001t0114a0001c0001t0140others(3): Show | a0001c0001t0013g0015 a0001c0001t0013g0269 a0001c0001t0013g0270 others(6): Show |
9 | 384 | 0.0234 | -6 | c.*20 others(17): Show |
SBK1 | ENSG00000188322.8 | transcript | ENST00000341901.5 | protein_coding | 4/4 | 2010 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SBK1_chr16_28287525_28328849 | 28322931 | CCTCTCT | C | 3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG01167.hp2 HG01175.hp2 others(21): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0004a0001c0001t0017a0001c0001t0032others(8): Show | a0001c0001t0004g0003 a0001c0001t0004g0026 a0001c0001t0004g0058 others(21): Show |
24 | 384 | 0.0625 | -6 | c.*20 others(17): Show |
SBK1 | ENSG00000188322.8 | transcript | ENST00000341901.5 | protein_coding | 4/4 | 2054 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SBK3_chr19_55535656_55550543 | 55549434 | CAAAAAA | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(130): Show |
a0001a0005a0007others(1): Show | a0001c0001a0001c0002a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(25): Show |
133 | 438 | 0.3037 | -6 | c.-38 others(17): Show |
SBK3 | ENSG00000231274.5 | transcript | ENST00000612221.1 | protein_coding | 3892 | chr19 | TogoVar |