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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SAT1_chrX_23778173_23791210 | 23781040 | C | CTTTTT | upstream_gene_variant | MODIFIER | HG01192.hp1 HG01993.hp2 HG02004.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 |
4 | 330 | 0.0121 | 5 | c.-23 others(16): Show |
SAT1 | ENSG00000130066.17 | transcript | ENST00000379270.5 | protein_coding | 2132 | chrX | TogoVar | |||||||
SAT1_chrX_23778173_23791210 | 23781874 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG01891.hp2 HG03471.hp1 NA18998.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0003t0001g0003 |
3 | 330 | 0.0091 | 5 | c.-14 others(16): Show |
SAT1 | ENSG00000130066.17 | transcript | ENST00000379270.5 | protein_coding | 1298 | chrX | TogoVar | |||||||
SAT1_chrX_23778173_23791210 | 23789492 | G | GCGTGT | downstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 330 | 0.0030 | 5 | c.*36 others(16): Show |
SAT1 | ENSG00000130066.17 | transcript | ENST00000379270.5 | protein_coding | 3283 | chrX | TogoVar | |||||||
SAT2_chr17_7621234_7632821 | 7629375 | C | CTAAAA | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00544.hp1 others(117): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0006 others(1): Show |
120 | 432 | 0.2778 | 5 | c.-17 others(16): Show |
SAT2 | ENSG00000141504.12 | transcript | ENST00000269298.10 | protein_coding | 1555 | chr17 | TogoVar | |||||||
SATB1_chr3_18340377_18430339 | 18362860 | C | CAAAAA | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00642.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0008 a0001c0001t0001g0150 a0001c0001t0001g0161 others(17): Show |
23 | 352 | 0.0653 | 5 | c.157 others(26): Show |
SATB1 | ENSG00000182568.18 | transcript | ENST00000338745.11 | protein_coding | 9/10 | chr3 | TogoVar | |||||||
SATB1_chr3_18340377_18430339 | 18362881 | A | AAAAAC | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(29): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(15): Show | a0001c0001t0001g0200 a0001c0001t0003g0124 a0001c0001t0003g0199 others(28): Show |
32 | 352 | 0.0909 | 5 | c.157 others(26): Show |
SATB1 | ENSG00000182568.18 | transcript | ENST00000338745.11 | protein_coding | 9/10 | chr3 | TogoVar | |||||||
SATB2_chr2_199264505_199462939 | 199283887 | G | GTTGTC | intron_variant | MODIFIER | HG02922.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0022 | a0001c0001t0014g0072 a0001c0001t0022g0020 |
2 | 254 | 0.0079 | 5 | c.174 others(26): Show |
SATB2 | ENSG00000119042.18 | transcript | ENST00000417098.6 | protein_coding | 10/10 | chr2 | TogoVar | |||||||
SATB2_chr2_199264505_199462939 | 199328548 | T | TTAAAA | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0017 | a0001c0001t0007g0077 a0001c0001t0017g0076 a0001c0001t0017g0078 |
3 | 254 | 0.0118 | 5 | c.138 others(22): Show |
SATB2 | ENSG00000119042.18 | transcript | ENST00000417098.6 | protein_coding | 8/10 | chr2 | TogoVar | |||||||
SATL1_chrX_85087284_85248779 | 85088316 | G | GTTTTT | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00558.hp2 others(40): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0080 others(39): Show |
43 | 232 | 0.1853 | 5 | c.*40 others(16): Show |
SATL1 | ENSG00000184788.14 | transcript | ENST00000644105.2 | protein_coding | 3967 | chrX | TogoVar | |||||||
SATL1_chrX_85087284_85248779 | 85220644 | T | TAAAAA | intron_variant | MODIFIER | HG00558.hp2 HG02129.hp1 HG02602.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 a0001c0001t0001g0132 a0001c0001t0001g0133 others(4): Show |
7 | 232 | 0.0302 | 5 | c.-31 others(24): Show |
SATL1 | ENSG00000184788.14 | transcript | ENST00000644105.2 | protein_coding | 2/7 | chrX | TogoVar | |||||||
SATL1_chrX_85087284_85248779 | 85224768 | C | CAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG01168.hp1 HG01934.hp1 others(22): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0002a0001c0001t0004a0002c0002t0002others(2): Show | a0001c0001t0002g0019 a0001c0001t0002g0022 a0001c0001t0002g0023 others(22): Show |
25 | 232 | 0.1078 | 5 | c.-43 others(22): Show |
SATL1 | ENSG00000184788.14 | transcript | ENST00000644105.2 | protein_coding | 1/7 | chrX | TogoVar | |||||||
SAV1_chr14_50628580_50673306 | 50629892 | G | GTTCTT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(310): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(197): Show |
313 | 390 | 0.8026 | 5 | c.*52 others(16): Show |
SAV1 | ENSG00000151748.15 | transcript | ENST00000324679.5 | protein_coding | 3687 | chr14 | TogoVar | |||||||
SAXO1_chr9_18922650_19038209 | 18980781 | G | GAAAAA | intron_variant | MODIFIER | HG02258.hp1 HG02258.hp2 HG02486.hp2 others(7): Show |
a0002a0003a0004others(2): Show | a0002c0002a0003c0003a0004c0015others(3): Show | a0002c0002t0025a0003c0003t0011a0003c0003t0013others(4): Show | a0002c0002t0025g0013 a0003c0003t0011g0165 a0003c0003t0013g0008 others(7): Show |
10 | 364 | 0.0275 | 5 | c.39- others(22): Show |
SAXO1 | ENSG00000155875.15 | transcript | ENST00000380534.9 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
SAXO1_chr9_18922650_19038209 | 18987955 | T | TAACTG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(162): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0006a0001c0028others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(40): Show | a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 others(160): Show |
165 | 364 | 0.4533 | 5 | c.39- others(22): Show |
SAXO1 | ENSG00000155875.15 | transcript | ENST00000380534.9 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
SAXO1_chr9_18922650_19038209 | 19009831 | C | CTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG01070.hp1 HG01074.hp1 others(10): Show |
a0001a0003a0006 | a0001c0001a0003c0003a0006c0007 | a0001c0001t0006a0001c0001t0008a0001c0001t0017others(3): Show | a0001c0001t0006g0141 a0001c0001t0008g0104 a0001c0001t0008g0105 others(10): Show |
13 | 364 | 0.0357 | 5 | c.38+ others(22): Show |
SAXO1 | ENSG00000155875.15 | transcript | ENST00000380534.9 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
SAXO1_chr9_18922650_19038209 | 19014460 | C | CAAAAA | intron_variant | MODIFIER | HG01070.hp2 HG01167.hp1 HG01167.hp2 others(11): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(6): Show | a0001c0001t0001g0280 a0001c0001t0001g0341 a0001c0001t0003g0228 others(11): Show |
14 | 364 | 0.0385 | 5 | c.38+ others(22): Show |
SAXO1 | ENSG00000155875.15 | transcript | ENST00000380534.9 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
SAXO1_chr9_18922650_19038209 | 19023796 | G | GAAAGC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(260): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0006a0001c0028others(22): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(76): Show | a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 others(257): Show |
263 | 364 | 0.7225 | 5 | c.38+ others(20): Show |
SAXO1 | ENSG00000155875.15 | transcript | ENST00000380534.9 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
SAXO2_chr15_82257818_82289927 | 82275281 | C | CAAAAA | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp1 HG00741.hp2 others(15): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0004 | a0001c0001t0001a0003c0003t0002a0004c0004t0004others(1): Show | a0001c0001t0001g0129 a0003c0003t0002g0056 a0003c0003t0002g0153 others(6): Show |
18 | 406 | 0.0443 | 5 | c.433 others(22): Show |
SAXO2 | ENSG00000188659.10 | transcript | ENST00000682753.1 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SBF1_chr22_50440000_50480035 | 50444542 | G | GGGGGT | downstream_gene_variant | MODIFIER | HG00323.hp1 HG01109.hp1 HG01257.hp1 others(18): Show |
a0001a0024a0031 | a0001c0001a0001c0004a0001c0013others(6): Show | a0001c0001t0014a0001c0001t0025a0001c0001t0030others(13): Show | a0001c0001t0014g0240 a0001c0001t0025g0259 a0001c0001t0030g0267 others(18): Show |
21 | 402 | 0.0522 | 5 | c.*25 others(16): Show |
SBF1 | ENSG00000100241.22 | transcript | ENST00000380817.8 | protein_coding | 457 | chr22 | TogoVar | |||||||
SBF1_chr22_50440000_50480035 | 50449363 | T | TCCCAG | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02280.hp2 others(7): Show |
a0001a0007 | a0001c0009a0007c0068 | a0001c0009t0017a0001c0009t0053a0001c0009t0143others(3): Show | a0001c0009t0017g0003 a0001c0009t0017g0336 a0001c0009t0053g0334 others(5): Show |
10 | 402 | 0.0249 | 5 | c.504 others(22): Show |
SBF1 | ENSG00000100241.22 | transcript | ENST00000380817.8 | protein_coding | 36/40 | chr22 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 9774366 | T | TTTTTG | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00544.hp2 others(63): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(8): Show | a0001c0001t0003g0021 a0001c0001t0003g0024 a0001c0001t0003g0025 others(63): Show |
66 | 224 | 0.2946 | 5 | c.*60 others(16): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 4301 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 9788761 | A | ATTTTT | intron_variant | MODIFIER | HG00733.hp2 HG01258.hp1 HG01891.hp2 others(3): Show |
a0001a0006 | a0001c0001a0001c0003a0001c0017others(2): Show | a0001c0001t0006a0001c0001t0015a0001c0003t0005others(3): Show | a0001c0001t0006g0140 a0001c0001t0015g0108 a0001c0003t0005g0162 others(3): Show |
6 | 224 | 0.0268 | 5 | c.493 others(22): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 35/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 9794676 | C | CAAAAA | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp2 HG01123.hp2 others(15): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0002g0190 a0001c0001t0003g0021 a0001c0001t0003g0024 others(15): Show |
18 | 224 | 0.0804 | 5 | c.457 others(24): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 33/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 9865688 | C | CAAAAA | intron_variant | MODIFIER | HG00741.hp1 HG01070.hp2 HG01106.hp2 others(19): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(8): Show | a0001c0001t0001g0002 a0001c0001t0001g0082 a0001c0001t0001g0086 others(19): Show |
22 | 224 | 0.0982 | 5 | c.193 others(24): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 17/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 9913643 | A | AAAAAT | intron_variant | MODIFIER | HG00280.hp2 HG00733.hp1 HG00735.hp1 others(39): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0005a0001c0011others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0047 a0001c0001t0001g0077 a0001c0001t0002g0043 others(39): Show |
42 | 224 | 0.1875 | 5 | c.186 others(26): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 16/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 9939076 | C | CTTTAT | intron_variant | MODIFIER | HG00735.hp2 HG01099.hp2 HG01361.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0004 | a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0004g0010 others(1): Show |
4 | 224 | 0.0179 | 5 | c.186 others(26): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 16/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 9946453 | C | CTTTCT | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG02135.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0015 a0001c0001t0001g0035 a0001c0001t0002g0037 others(5): Show |
8 | 224 | 0.0357 | 5 | c.186 others(26): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 16/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 10004574 | T | TAAAAA | intron_variant | MODIFIER | HG01071.hp2 HG01168.hp1 HG01169.hp1 others(6): Show |
a0001a0003 | a0001c0003a0003c0004 | a0001c0003t0001a0001c0003t0002a0001c0003t0004others(2): Show | a0001c0003t0001g0160 a0001c0003t0001g0165 a0001c0003t0002g0019 others(6): Show |
9 | 224 | 0.0402 | 5 | c.620 others(22): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 6/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 10024337 | T | TAAAAA | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00423.hp1 others(88): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0015 a0001c0001t0001g0029 a0001c0001t0001g0030 others(88): Show |
91 | 224 | 0.4063 | 5 | c.619 others(22): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 6/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 10096424 | T | TAAAAA | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG01884.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(2): Show | a0001c0001t0001g0035 a0001c0001t0001g0054 a0001c0001t0002g0220 others(3): Show |
6 | 224 | 0.0268 | 5 | c.142 others(24): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 2/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 10144487 | C | CAAAAT | intron_variant | MODIFIER | HG00733.hp1 HG01123.hp2 HG01168.hp2 others(5): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0136 a0001c0001t0001g0147 a0001c0001t0001g0177 others(5): Show |
8 | 224 | 0.0357 | 5 | c.141 others(24): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 2/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 10196866 | A | ATATTT | intron_variant | MODIFIER | HG00741.hp1 HG01261.hp2 HG03098.hp1 others(3): Show |
a0001a0005 | a0001c0001a0005c0015 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0177 a0001c0001t0001g0178 others(3): Show |
6 | 224 | 0.0268 | 5 | c.56- others(20): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 1/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 10279105 | T | TAAAAA | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00558.hp1 others(16): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0015 a0001c0001t0001g0029 a0001c0001t0001g0030 others(16): Show |
19 | 224 | 0.0848 | 5 | c.55+ others(22): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 1/39 | chr11 | TogoVar | |||||||
SBK1_chr16_28287525_28328849 | 28290729 | G | GAAGAA | upstream_gene_variant | MODIFIER | HG00741.hp2 HG01243.hp2 HG01346.hp1 others(23): Show |
a0001a0007 | a0001c0001a0007c0007 | a0001c0001t0026a0001c0001t0027a0001c0001t0042others(21): Show | a0001c0001t0026g0018 a0001c0001t0027g0066 a0001c0001t0042g0016 others(23): Show |
26 | 384 | 0.0677 | 5 | c.-25 others(16): Show |
SBK1 | ENSG00000188322.8 | transcript | ENST00000341901.5 | protein_coding | 1795 | chr16 | TogoVar | |||||||
SBK1_chr16_28287525_28328849 | 28322931 | C | CTCTCT | 3_prime_UTR_variant | MODIFIER | HG03130.hp2 NA18993.hp1 NA19079.hp1 |
a0001 | a0001c0001 | a0001c0001t0073a0001c0001t0103a0001c0001t0137 | a0001c0001t0073g0003 a0001c0001t0103g0253 a0001c0001t0137g0072 |
3 | 384 | 0.0078 | 5 | c.*20 others(16): Show |
SBK1 | ENSG00000188322.8 | transcript | ENST00000341901.5 | protein_coding | 4/4 | 2011 | chr16 | TogoVar | ||||||
SBK2_chr19_55523611_55542133 | 55532601 | C | CTTTTT | intron_variant | MODIFIER | HG00438.hp2 HG01109.hp1 HG01361.hp1 others(9): Show |
a0001a0004a0008 | a0001c0001a0001c0004a0001c0020others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0282 a0001c0001t0004g0201 a0001c0001t0005g0008 others(5): Show |
12 | 434 | 0.0277 | 5 | c.254 others(22): Show |
SBK2 | ENSG00000187550.9 | transcript | ENST00000413299.6 | protein_coding | 2/3 | chr19 | TogoVar | |||||||
SBK2_chr19_55523611_55542133 | 55533659 | C | CAAAAA | intron_variant | MODIFIER | HG00423.hp1 HG02109.hp2 HG02486.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(2): Show | a0001c0001t0001g0166 a0001c0001t0001g0257 a0001c0001t0001g0258 others(7): Show |
12 | 434 | 0.0277 | 5 | c.254 others(22): Show |
SBK2 | ENSG00000187550.9 | transcript | ENST00000413299.6 | protein_coding | 2/3 | chr19 | TogoVar | |||||||
SBNO1_chr12_123284109_123369847 | 123284378 | G | GTTTGT | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(146): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0003a0001c0005others(10): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(49): Show | a0001c0001t0001g0099 a0001c0001t0001g0120 a0001c0001t0001g0122 others(146): Show |
149 | 260 | 0.5731 | 5 | c.*11 others(18): Show |
SBNO1 | ENSG00000139697.14 | transcript | ENST00000602398.3 | protein_coding | 4730 | chr12 | TogoVar | |||||||
SBNO1_chr12_123284109_123369847 | 123297400 | C | CAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG02683.hp1 HG02970.hp1 others(2): Show |
a0001a0003 | a0001c0001a0001c0006a0003c0007 | a0001c0001t0004a0001c0001t0013a0001c0006t0011others(2): Show | a0001c0001t0004g0132 a0001c0001t0013g0148 a0001c0006t0011g0004 others(2): Show |
5 | 260 | 0.0192 | 5 | c.403 others(22): Show |
SBNO1 | ENSG00000139697.14 | transcript | ENST00000602398.3 | protein_coding | 31/31 | chr12 | TogoVar | |||||||
SBNO1_chr12_123284109_123369847 | 123299681 | C | CAAAAA | intron_variant | MODIFIER | HG00642.hp1 HG00673.hp2 HG01081.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(3): Show | a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0001g0171 others(8): Show |
11 | 260 | 0.0423 | 5 | c.384 others(24): Show |
SBNO1 | ENSG00000139697.14 | transcript | ENST00000602398.3 | protein_coding | 30/31 | chr12 | TogoVar | |||||||
SBNO1_chr12_123284109_123369847 | 123307020 | T | TAAAAA | intron_variant | MODIFIER | HG00621.hp1 HG02071.hp2 HG02602.hp1 others(7): Show |
a0001a0003 | a0001c0002a0003c0007 | a0001c0002t0009a0001c0002t0021a0001c0002t0088others(3): Show | a0001c0002t0009g0241 a0001c0002t0009g0242 a0001c0002t0009g0243 others(7): Show |
10 | 260 | 0.0385 | 5 | c.363 others(24): Show |
SBNO1 | ENSG00000139697.14 | transcript | ENST00000602398.3 | protein_coding | 28/31 | chr12 | TogoVar | |||||||
SBNO1_chr12_123284109_123369847 | 123307020 | T | TTAAAA | intron_variant | MODIFIER | HG02683.hp1 HG03471.hp2 NA19085.hp2 others(1): Show |
a0001 | a0001c0006 | a0001c0006t0010a0001c0006t0011 | a0001c0006t0010g0007 a0001c0006t0011g0002 a0001c0006t0011g0004 others(1): Show |
4 | 260 | 0.0154 | 5 | c.363 others(24): Show |
SBNO1 | ENSG00000139697.14 | transcript | ENST00000602398.3 | protein_coding | 28/31 | chr12 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1114637 | A | ATATTT | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(96): Show |
a0001a0002a0003others(6): Show | a0001c0004a0001c0005a0001c0006others(24): Show | a0001c0004t0001a0001c0004t0011a0001c0005t0001others(31): Show | a0001c0004t0001g0001 a0001c0004t0001g0036 a0001c0004t0001g0038 others(96): Show |
99 | 203 | 0.4877 | 5 | c.188 others(22): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 17/31 | chr19 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1161906 | C | CGGGGG | intron_variant | MODIFIER | HG00642.hp1 HG01069.hp1 HG01069.hp2 others(18): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(10): Show | a0001c0001t0001a0001c0001t0008a0001c0002t0001others(11): Show | a0001c0001t0001g0006 a0001c0001t0001g0057 a0001c0001t0001g0065 others(18): Show |
21 | 203 | 0.1035 | 5 | c.-12 others(24): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1170931 | C | CACATA | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(198): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0002a0001c0004others(44): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(55): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0014 others(198): Show |
201 | 203 | 0.9902 | 5 | c.-12 others(24): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1172775 | A | ACCCCC | intron_variant | MODIFIER | HG00642.hp1 HG02293.hp1 HG02683.hp2 others(3): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(3): Show | a0001c0001t0001g0014 a0001c0002t0001g0125 a0001c0006t0001g0013 others(3): Show |
6 | 203 | 0.0296 | 5 | c.-12 others(24): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1175700 | A | ACAGTC | upstream_gene_variant | MODIFIER | HG00639.hp1 HG01168.hp2 HG02055.hp1 others(3): Show |
a0001a0002 | a0001c0006a0001c0007a0002c0003 | a0001c0006t0006a0001c0007t0001a0002c0003t0001others(1): Show | a0001c0006t0006g0131 a0001c0007t0001g0011 a0002c0003t0001g0009 others(3): Show |
6 | 203 | 0.0296 | 5 | c.-16 others(16): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1433 | chr19 | TogoVar | |||||||
SC5D_chr11_121287771_121318410 | 121314315 | A | ATTTTT | downstream_gene_variant | MODIFIER | HG00544.hp2 HG00621.hp1 HG01256.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(3): Show | a0001c0001t0002g0002 a0001c0001t0003g0003 a0001c0001t0003g0013 others(9): Show |
27 | 424 | 0.0637 | 5 | c.*68 others(16): Show |
SC5D | ENSG00000109929.10 | transcript | ENST00000264027.9 | protein_coding | 906 | chr11 | TogoVar | |||||||
SCAF1_chr19_49637209_49663642 | 49660028 | C | CACACA | downstream_gene_variant | MODIFIER | HG01515.hp1 HG01515.hp2 HG03927.hp1 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0007 a0002c0001t0001g0025 a0002c0001t0001g0105 |
3 | 382 | 0.0079 | 5 | c.*16 others(16): Show |
SCAF1 | ENSG00000126461.15 | transcript | ENST00000360565.8 | protein_coding | 1387 | chr19 | TogoVar | |||||||
SCAF8_chr6_154728416_154839221 | 154729472 | G | GTTTTT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00609.hp2 others(28): Show |
a0001a0003 | a0001c0001a0001c0011a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0126 others(28): Show |
31 | 282 | 0.1099 | 5 | c.-44 others(16): Show |
SCAF8 | ENSG00000213079.10 | transcript | ENST00000367178.8 | protein_coding | 3943 | chr6 | TogoVar |