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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RYR3_chr15_33305967_33871102 | 33794146 | AAATATAT | A | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(20): Show |
a0001a0004a0005others(7): Show | a0001c0001a0001c0002a0001c0005others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(19): Show | a0001c0001t0001g0044 a0001c0001t0002g0099 a0001c0002t0001g0018 others(20): Show |
23 | 152 | 0.1513 | -7 | c.983 others(26): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 67/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33857251 | CACCAGCA | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(143): Show |
a0001a0002a0003others(48): Show | a0001c0001a0001c0002a0001c0003others(114): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(126): Show | a0001c0001t0001g0044 a0001c0001t0001g0096 a0001c0001t0001g0140 others(143): Show |
146 | 152 | 0.9605 | -7 | c.140 others(26): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 98/103 | chr15 | TogoVar | |||||||
S100A4_chr1_153538621_153550806 | 153539424 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG00642.hp2 HG02683.hp1 HG03710.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0004 | a0001c0001t0001g0001 a0001c0002t0001g0002 a0001c0002t0004g0022 |
6 | 204 | 0.0294 | -7 | c.*43 others(18): Show |
S100A4 | ENSG00000196154.12 | transcript | ENST00000368716.9 | protein_coding | 4196 | chr1 | TogoVar | |||||||
S100A4_chr1_153538621_153550806 | 153539451 | ATATATAT | A | downstream_gene_variant | MODIFIER | HG02630.hp1 HG02886.hp2 NA18522.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 5 | 325 | 0.0154 | -7 | c.*43 others(18): Show |
S100A4 | ENSG00000196154.12 | transcript | ENST00000368716.9 | protein_coding | 4169 | chr1 | TogoVar | |||||||
S100A5_chr1_153532147_153545934 | 153539424 | CAAAAAAA | C | intron_variant | MODIFIER | HG00642.hp2 HG02683.hp2 HG03710.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0038 a0001c0003t0001g0011 |
6 | 221 | 0.0271 | -7 | c.138 others(22): Show |
S100A5 | ENSG00000196420.8 | transcript | ENST00000368717.3 | protein_coding | 2/2 | chr1 | TogoVar | |||||||
S100A5_chr1_153532147_153545934 | 153539451 | ATATATAT | A | intron_variant | MODIFIER | HG02630.hp2 HG02886.hp1 NA18522.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0055 |
5 | 356 | 0.0140 | -7 | c.138 others(22): Show |
S100A5 | ENSG00000196420.8 | transcript | ENST00000368717.3 | protein_coding | 2/2 | chr1 | TogoVar | |||||||
S100A6_chr1_153529599_153540991 | 153539424 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00642.hp2 HG02683.hp2 HG03710.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0003c0003t0001g0006 |
6 | 219 | 0.0274 | -7 | c.-35 others(18): Show |
S100A6 | ENSG00000197956.10 | transcript | ENST00000368719.9 | protein_coding | 3434 | chr1 | TogoVar | |||||||
S100A6_chr1_153529599_153540991 | 153539451 | ATATATAT | A | upstream_gene_variant | MODIFIER | HG02630.hp1 HG02886.hp2 NA18522.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 5 | 359 | 0.0139 | -7 | c.-35 others(18): Show |
S100A6 | ENSG00000197956.10 | transcript | ENST00000368719.9 | protein_coding | 3461 | chr1 | TogoVar | |||||||
S100P_chr4_6688878_6702170 | 6699958 | GTTGTTTT | G | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(95): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(10): Show |
98 | 480 | 0.2042 | -7 | c.*29 others(18): Show |
S100P | ENSG00000163993.7 | transcript | ENST00000296370.4 | protein_coding | 2789 | chr4 | TogoVar | |||||||
S1PR2_chr19_10216433_10236331 | 10223168 | CAAAAAAA | C | 3_prime_UTR_variant | MODIFIER | HG00597.hp1 HG02055.hp1 HG02055.hp2 others(5): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0019a0001c0002t0043a0001c0002t0044others(2): Show | a0001c0002t0019g0028 a0001c0002t0019g0112 a0001c0002t0043g0144 others(3): Show |
8 | 38 | 0.2105 | -7 | c.*66 others(16): Show |
S1PR2 | ENSG00000267534.4 | transcript | ENST00000646641.1 | protein_coding | 2/2 | 669 | chr19 | TogoVar | ||||||
SAA1_chr11_18261264_18274967 | 18265047 | AAAGAAGG | A | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00597.hp2 HG00621.hp1 others(83): Show |
a0002a0003a0005others(3): Show | a0002c0001a0003c0003a0005c0007others(3): Show | a0002c0001t0001a0003c0003t0001a0005c0007t0001others(3): Show | a0002c0001t0001g0012 a0002c0001t0001g0024 a0003c0003t0001g0003 others(7): Show |
86 | 420 | 0.2048 | -7 | c.-12 others(18): Show |
SAA1 | ENSG00000173432.13 | transcript | ENST00000356524.9 | protein_coding | 1216 | chr11 | TogoVar | |||||||
SAA4_chr11_18226355_18241802 | 18230035 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG00639.hp1 HG01123.hp1 HG01496.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0013 |
7 | 57 | 0.1228 | -7 | c.*14 others(18): Show |
SAA4 | ENSG00000148965.10 | transcript | ENST00000278222.7 | protein_coding | 1319 | chr11 | TogoVar | |||||||
SACS_chr13_23323830_23438702 | 23409040 | CTTTTTTT | C | intron_variant | MODIFIER | HG00621.hp2 HG00639.hp1 HG00673.hp2 others(32): Show |
a0001a0002a0005others(1): Show | a0001c0003a0001c0014a0001c0016others(4): Show | a0001c0003t0001a0001c0003t0008a0001c0014t0005others(6): Show | a0001c0003t0001g0324 a0001c0003t0001g0337 a0001c0003t0001g0359 others(31): Show |
35 | 42 | 0.8333 | -7 | c.20+ others(22): Show |
SACS | ENSG00000151835.17 | transcript | ENST00000382292.9 | protein_coding | 2/9 | chr13 | TogoVar | |||||||
SACS_chr13_23323830_23438702 | 23429345 | ATTTTTTT | A | intron_variant | MODIFIER | HG01109.hp1 HG01192.hp2 HG02145.hp1 others(9): Show |
a0001a0002a0025others(2): Show | a0001c0002a0001c0003a0001c0011others(4): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0028others(7): Show | a0001c0002t0002g0016 a0001c0002t0002g0025 a0001c0002t0003g0026 others(9): Show |
12 | 42 | 0.2857 | -7 | c.-50 others(26): Show |
SACS | ENSG00000151835.17 | transcript | ENST00000382292.9 | protein_coding | 1/9 | chr13 | TogoVar | |||||||
SAE1_chr19_47125835_47215636 | 47196333 | CTTTTTTT | C | intron_variant | MODIFIER | HG01169.hp2 HG01978.hp2 HG01981.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 a0001c0001t0001g0087 a0001c0001t0001g0226 others(6): Show |
9 | 18 | 0.5000 | -7 | c.734 others(22): Show |
SAE1 | ENSG00000142230.13 | transcript | ENST00000270225.12 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SAFB2_chr19_5581999_5627776 | 5615764 | ACTGTGGC | A | intron_variant | MODIFIER | HG02109.hp2 HG02258.hp1 HG02486.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0054 a0001c0001t0002g0078 a0001c0001t0002g0079 others(3): Show |
6 | 348 | 0.0172 | -7 | c.543 others(22): Show |
SAFB2 | ENSG00000130254.12 | transcript | ENST00000252542.9 | protein_coding | 4/20 | chr19 | TogoVar | |||||||
SAGSIN1_chr7_6324411_6353967 | 6327728 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG00558.hp2 HG00639.hp1 HG00673.hp1 others(76): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(5): Show | a0001c0001t0002g0005 a0001c0001t0002g0018 a0001c0001t0002g0019 others(73): Show |
79 | 164 | 0.4817 | -7 | c.*34 others(18): Show |
SAGSIN1 | ENSG00000286075.3 | transcript | ENST00000578372.2 | protein_coding | 1682 | chr7 | TogoVar | |||||||
SAGSIN1_chr7_6324411_6353967 | 6351226 | TTTATTAA | T | upstream_gene_variant | MODIFIER | HG00735.hp2 HG01168.hp2 HG01169.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0339 a0001c0001t0002g0334 a0001c0001t0004g0283 others(3): Show |
6 | 416 | 0.0144 | -7 | c.-24 others(18): Show |
SAGSIN1 | ENSG00000286075.3 | transcript | ENST00000578372.2 | protein_coding | 2260 | chr7 | TogoVar | |||||||
SAMD12_chr8_118372984_118626963 | 118422437 | TAGGGAGG | T | intron_variant | MODIFIER | HG02896.hp2 HG03139.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0002c0004t0002 | a0001c0001t0002g0123 a0002c0004t0002g0047 |
2 | 186 | 0.0108 | -7 | c.322 others(26): Show |
SAMD12 | ENSG00000177570.15 | transcript | ENST00000314727.9 | protein_coding | 3/3 | chr8 | TogoVar | |||||||
SAMD12_chr8_118372984_118626963 | 118570215 | CTTTAACT | C | intron_variant | MODIFIER | HG02280.hp1 HG02615.hp2 HG02717.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0184 others(1): Show |
4 | 186 | 0.0215 | -7 | c.192 others(26): Show |
SAMD12 | ENSG00000177570.15 | transcript | ENST00000314727.9 | protein_coding | 2/3 | chr8 | TogoVar | |||||||
SAMD15_chr14_77372379_77397163 | 77372907 | TATATATA | T | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG01255.hp2 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0011a0002c0002t0002 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(6): Show |
16 | 238 | 0.0672 | -7 | c.-45 others(18): Show |
SAMD15 | ENSG00000100583.5 | transcript | ENST00000216471.5 | protein_coding | 4471 | chr14 | TogoVar | |||||||
SAMD3_chr6_130139315_130227951 | 130211275 | AATTTTTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(69): Show |
a0001a0004a0006 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0018 others(66): Show |
72 | 334 | 0.2156 | -7 | c.270 others(24): Show |
SAMD3 | ENSG00000164483.17 | transcript | ENST00000439090.7 | protein_coding | 4/11 | chr6 | TogoVar | |||||||
SAMD3_chr6_130139315_130227951 | 130211276 | ATTTTTTT | A | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00438.hp1 others(159): Show |
a0001a0003a0005others(2): Show | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(154): Show |
162 | 308 | 0.5260 | -7 | c.270 others(24): Show |
SAMD3 | ENSG00000164483.17 | transcript | ENST00000439090.7 | protein_coding | 4/11 | chr6 | TogoVar | |||||||
SAMD4A_chr14_54562128_54798312 | 54576001 | CTTTTTTT | C | intron_variant | MODIFIER | HG00597.hp2 HG01099.hp2 HG01255.hp1 others(29): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(15): Show | a0001c0001t0001g0018 a0001c0001t0001g0032 a0001c0001t0001g0035 others(29): Show |
32 | 51 | 0.6275 | -7 | c.196 others(24): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD7_chr3_169906572_169944175 | 169909976 | CAACAAAA | C | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02895.hp2 HG02896.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0055 a0001c0001t0006g0056 a0001c0001t0006g0247 |
5 | 391 | 0.0128 | -7 | c.-19 others(18): Show |
SAMD7 | ENSG00000187033.9 | transcript | ENST00000335556.7 | protein_coding | 1595 | chr3 | TogoVar | |||||||
SAMHD1_chr20_36885229_36956708 | 36912751 | ATTTTTTT | A | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00438.hp1 others(85): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(6): Show | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 others(85): Show |
88 | 149 | 0.5906 | -7 | c.106 others(24): Show |
SAMHD1 | ENSG00000101347.11 | transcript | ENST00000646673.2 | protein_coding | 9/15 | chr20 | TogoVar | |||||||
SAMHD1_chr20_36885229_36956708 | 36912771 | TTTTTTTA | T | intron_variant | MODIFIER | HG00423.hp2 NA18940.hp2 NA18944.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 a0001c0001t0001g0047 a0001c0001t0001g0048 others(9): Show |
12 | 338 | 0.0355 | -7 | c.106 others(24): Show |
SAMHD1 | ENSG00000101347.11 | transcript | ENST00000646673.2 | protein_coding | 9/15 | chr20 | TogoVar | |||||||
SAP130_chr2_127936222_128033059 | 128004361 | CTTTTTTT | C | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02559.hp2 others(12): Show |
a0001 | a0001c0001a0001c0006a0001c0015 | a0001c0001t0001a0001c0006t0001a0001c0015t0001 | a0001c0001t0001g0018 a0001c0001t0001g0060 a0001c0001t0001g0064 others(12): Show |
15 | 34 | 0.4412 | -7 | c.870 others(24): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | TogoVar | |||||||
SAR1A_chr10_70142289_70175514 | 70151259 | CAAAAAAA | C | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(54): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0019others(13): Show | a0001c0001t0003g0002 a0001c0001t0003g0038 a0001c0001t0003g0049 others(33): Show |
57 | 73 | 0.7808 | -7 | c.*12 others(18): Show |
SAR1A | ENSG00000079332.16 | transcript | ENST00000373241.9 | protein_coding | 7/7 | 1210 | chr10 | TogoVar | ||||||
SAR1B_chr5_134596149_134637828 | 134598535 | ATTTTTTT | A | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02559.hp1 HG02559.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0023 | a0001c0001t0001g0011 a0001c0001t0001g0071 a0001c0001t0001g0210 others(3): Show |
6 | 16 | 0.3750 | -7 | c.*84 others(18): Show |
SAR1B | ENSG00000152700.14 | transcript | ENST00000402673.7 | protein_coding | 2613 | chr5 | TogoVar | |||||||
SAR1B_chr5_134596149_134637828 | 134612641 | TAAAAAAA | T | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00558.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0174 a0001c0001t0001g0197 a0001c0001t0001g0233 others(12): Show |
16 | 26 | 0.6154 | -7 | c.244 others(20): Show |
SAR1B | ENSG00000152700.14 | transcript | ENST00000402673.7 | protein_coding | 4/6 | chr5 | TogoVar | |||||||
SARDH_chr9_133658560_133743352 | 133668418 | CTCTCCCT | C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00544.hp1 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0011a0001c0024a0002c0008others(3): Show | a0001c0011t0001a0001c0024t0001a0002c0008t0001others(3): Show | a0001c0011t0001g0101 a0001c0011t0001g0102 a0001c0024t0001g0122 others(8): Show |
11 | 260 | 0.0423 | -7 | c.249 others(26): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | |||||||
SARDH_chr9_133658560_133743352 | 133668487 | TCCCCTCA | T | intron_variant | MODIFIER | HG00544.hp1 HG02155.hp1 NA19043.hp1 others(4): Show |
a0001a0002a0003 | a0001c0011a0001c0027a0002c0008others(2): Show | a0001c0011t0001a0001c0027t0001a0002c0008t0001others(2): Show | a0001c0011t0001g0101 a0001c0011t0001g0102 a0001c0027t0001g0103 others(4): Show |
7 | 255 | 0.0275 | -7 | c.249 others(26): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | |||||||
SARS1_chr1_109208918_109243182 | 109210956 | ACAGAAAT | A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(139): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0006 a0001c0001t0001g0017 a0001c0001t0001g0018 others(132): Show |
142 | 400 | 0.3550 | -7 | c.-30 others(18): Show |
SARS1 | ENSG00000031698.13 | transcript | ENST00000234677.7 | protein_coding | 2961 | chr1 | TogoVar | |||||||
SARS1_chr1_109208918_109243182 | 109222004 | ATATATAT | A | intron_variant | MODIFIER | NA18955.hp2 NA18956.hp2 NA18966.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0002c0005t0003 | a0001c0001t0001g0025 a0001c0001t0001g0261 a0001c0001t0001g0284 others(4): Show |
7 | 358 | 0.0196 | -7 | c.137 others(24): Show |
SARS1 | ENSG00000031698.13 | transcript | ENST00000234677.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SARS1_chr1_109208918_109243182 | 109238957 | TGATGGAG | T | downstream_gene_variant | MODIFIER | HG00609.hp2 NA18948.hp2 NA18956.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 a0001c0001t0001g0289 a0001c0001t0001g0290 others(2): Show |
6 | 400 | 0.0150 | -7 | c.*10 others(18): Show |
SARS1 | ENSG00000031698.13 | transcript | ENST00000234677.7 | protein_coding | 776 | chr1 | TogoVar | |||||||
SART3_chr12_108517214_108566173 | 108541998 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(108): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0027 others(84): Show |
111 | 154 | 0.7208 | -7 | c.906 others(24): Show |
SART3 | ENSG00000075856.12 | transcript | ENST00000546815.6 | protein_coding | 6/18 | chr12 | TogoVar | |||||||
SASH1_chr6_148337838_148557044 | 148411166 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00597.hp2 HG01070.hp2 others(43): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0013others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(24): Show | a0001c0001t0001g0152 a0001c0001t0001g0162 a0001c0001t0001g0177 others(43): Show |
46 | 88 | 0.5227 | -7 | 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 | 148434063 | ATTTTTTT | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(107): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0007others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(49): Show | a0001c0001t0001g0008 a0001c0001t0001g0041 a0001c0001t0001g0050 others(107): Show |
110 | 126 | 0.8730 | -7 | c.286 others(24): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148443143 | GAAAAAAA | G | intron_variant | MODIFIER | HG00099.hp2 HG00609.hp1 HG00639.hp2 others(12): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0030others(12): Show | a0001c0001t0001g0050 a0001c0001t0002g0192 a0001c0001t0030g0043 others(12): Show |
15 | 100 | 0.1500 | -7 | c.386 others(24): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148516489 | CGCCCCCT | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00639.hp1 others(39): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0015others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(19): Show | a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0151 others(39): Show |
42 | 320 | 0.1313 | -7 | c.862 others(24): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 9/19 | chr6 | TogoVar | |||||||
SASH1_chr6_148337838_148557044 | 148516490 | GCCCCCTC | G | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(185): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0007others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(72): Show | a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0041 others(185): Show |
188 | 320 | 0.5875 | -7 | c.862 others(24): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 9/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASS6_chr1_100078570_100137930 | 100095005 | TGATAAAA | T | intron_variant | MODIFIER | HG02622.hp1 HG03130.hp2 HG03225.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0010 a0001c0001t0007g0184 |
4 | 302 | 0.0132 | -7 | c.167 others(26): Show |
SASS6 | ENSG00000156876.10 | transcript | ENST00000287482.6 | protein_coding | 14/16 | chr1 | TogoVar | |||||||
SAT1_chrX_23778173_23791210 | 23780462 | TAAAAAAA | T | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG01106.hp1 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0008 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(7): Show |
34 | 290 | 0.1172 | -7 | c.-28 others(18): Show |
SAT1 | ENSG00000130066.17 | transcript | ENST00000379270.5 | protein_coding | 2710 | chrX | TogoVar | |||||||
SATB1_chr3_18340377_18430339 | 18411548 | GTTTACTT | G | intron_variant | MODIFIER | HG00423.hp1 HG00621.hp1 HG00673.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0012a0001c0001t0014others(4): Show | a0001c0001t0011g0268 a0001c0001t0011g0269 a0001c0001t0012g0235 others(17): Show |
23 | 350 | 0.0657 | -7 | c.639 others(24): Show |
SATB1 | ENSG00000182568.18 | transcript | ENST00000338745.11 | protein_coding | 5/10 | chr3 | TogoVar | |||||||
SATB2_chr2_199264505_199462939 | 199346858 | CTTTTTTT | C | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG00609.hp2 others(42): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0140 a0001c0001t0002g0046 a0001c0001t0002g0103 others(42): Show |
45 | 138 | 0.3261 | -7 | c.117 others(26): Show |
SATB2 | ENSG00000119042.18 | transcript | ENST00000417098.6 | protein_coding | 7/10 | chr2 | TogoVar | |||||||
SATB2_chr2_199264505_199462939 | 199426692 | CAAAAAAA | C | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG00735.hp2 others(51): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(5): Show | a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0038 others(51): Show |
54 | 214 | 0.2523 | -7 | c.346 others(24): Show |
SATB2 | ENSG00000119042.18 | transcript | ENST00000417098.6 | protein_coding | 3/10 | chr2 | TogoVar | |||||||
SATL1_chrX_85087284_85248779 | 85088316 | GTTTTTTT | G | downstream_gene_variant | MODIFIER | HG02257.hp1 HG02486.hp1 HG02615.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0083 others(3): Show |
6 | 41 | 0.1463 | -7 | c.*40 others(18): Show |
SATL1 | ENSG00000184788.14 | transcript | ENST00000644105.2 | protein_coding | 3967 | chrX | TogoVar | |||||||
SBF1_chr22_50440000_50480035 | 50442530 | CTTAAAGT | C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00423.hp1 others(81): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0027a0001c0001t0073a0001c0001t0076others(45): Show | a0001c0001t0027g0051 a0001c0001t0073g0105 a0001c0001t0076g0106 others(75): Show |
84 | 400 | 0.2100 | -7 | c.*46 others(18): Show |
SBF1 | ENSG00000100241.22 | transcript | ENST00000380817.8 | protein_coding | 2469 | chr22 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 9783103 | AAGACTGG | A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(83): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0003a0001c0011others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(14): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0028 others(83): Show |
86 | 222 | 0.3874 | -7 | c.531 others(26): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 38/39 | chr11 | TogoVar |