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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SEL1L2_chr20_13844247_13995614 | 13939040 | G | GGTTTTTT others(27): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0051 | 1 | 11 | 0.0909 | 34 | c.115 others(51): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SELENON_chr1_25795193_25823221 | 25819427 | T | TGAGAGAG others(27): Show |
downstream_gene_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0037 | 1 | 129 | 0.0078 | 34 | c.*37 others(45): Show |
SELENON | ENSG00000162430.18 | transcript | ENST00000361547.7 | protein_coding | 1207 | WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS | chr1 | TogoVar | ||||||
SELENON_chr1_25795193_25823221 | 25819429 | T | TGTGTGAG others(27): Show |
downstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0147 | 1 | 41 | 0.0244 | 34 | c.*37 others(45): Show |
SELENON | ENSG00000162430.18 | transcript | ENST00000361547.7 | protein_coding | 1209 | WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS | chr1 | TogoVar | ||||||
SELENON_chr1_25795193_25823221 | 25819429 | T | TGTGTGTG others(27): Show |
downstream_gene_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0030 | 1 | 41 | 0.0244 | 34 | c.*37 others(45): Show |
SELENON | ENSG00000162430.18 | transcript | ENST00000361547.7 | protein_coding | 1209 | WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS | chr1 | TogoVar | ||||||
SEMA3D_chr7_84990553_85192056 | 85066913 | C | CACACACA others(27): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0002 | a0002c0005 | a0002c0005t0016 | a0002c0005t0016g0159 | 1 | 118 | 0.0085 | 34 | c.589 others(51): Show |
SEMA3D | ENSG00000153993.14 | transcript | ENST00000284136.11 | protein_coding | 7/18 | chr7 | TogoVar | |||||||
SEMA3D_chr7_84990553_85192056 | 85066913 | C | CACACACA others(27): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0002 | a0002c0005 | a0002c0005t0016 | a0002c0005t0016g0160 | 1 | 118 | 0.0085 | 34 | c.589 others(51): Show |
SEMA3D | ENSG00000153993.14 | transcript | ENST00000284136.11 | protein_coding | 7/18 | chr7 | TogoVar | |||||||
SEMA3E_chr7_83358238_83654139 | 83389958 | A | AGTGTATA others(27): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0189 | 1 | 143 | 0.0070 | 34 | c.166 others(53): Show |
SEMA3E | ENSG00000170381.15 | transcript | ENST00000643230.2 | protein_coding | 14/16 | chr7 | TogoVar | |||||||
SEMA3E_chr7_83358238_83654139 | 83639110 | C | CAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG02895.hp1 NA18906.hp1 |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0025a0003c0007t0026 | a0001c0001t0025g0001 a0003c0007t0026g0006 |
2 | 122 | 0.0164 | 34 | c.115 others(51): Show |
SEMA3E | ENSG00000170381.15 | transcript | ENST00000643230.2 | protein_coding | 1/16 | chr7 | TogoVar | |||||||
SEMA4D_chr9_89372235_89503113 | 89461700 | C | CTCTCTCT others(27): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0004 | a0001c0004t0023 | a0001c0004t0023g0196 | 1 | 126 | 0.0079 | 34 | c.-30 others(53): Show |
SEMA4D | ENSG00000187764.12 | transcript | ENST00000422704.7 | protein_coding | 1/15 | chr9 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9353082 | A | AGGAAGGA others(27): Show |
intron_variant | MODIFIER | HG02818.hp2 HG03540.hp2 NA18522.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0030a0001c0001t0054others(1): Show | a0001c0001t0001g0042 a0001c0001t0030g0032 a0001c0001t0054g0094 others(1): Show |
4 | 126 | 0.0317 | 34 | c.125 others(53): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 3/22 | chr5 | TogoVar | |||||||
SEMG2_chr20_45216373_45229458 | 45225548 | G | GAAAGAAA others(27): Show |
downstream_gene_variant | MODIFIER | HG03540.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0004 | 1 | 330 | 0.0030 | 34 | c.*13 others(45): Show |
SEMG2 | ENSG00000124157.7 | transcript | ENST00000372769.4 | protein_coding | 1091 | chr20 | TogoVar | |||||||
SENP1_chr12_48037897_48111079 | 48078317 | T | TTATATAT others(27): Show |
intron_variant | MODIFIER | HG00738.hp2 NA19060.hp1 NA19077.hp2 |
a0001 | a0001c0001a0001c0010 | a0001c0001t0002a0001c0010t0001 | a0001c0001t0002g0200 a0001c0001t0002g0331 a0001c0010t0001g0091 |
3 | 291 | 0.0103 | 34 | c.553 others(51): Show |
SENP1 | ENSG00000079387.15 | transcript | ENST00000549518.6 | protein_coding | 6/17 | chr12 | TogoVar | |||||||
SENP1_chr12_48037897_48111079 | 48078334 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0367 | 1 | 158 | 0.0063 | 34 | c.553 others(51): Show |
SENP1 | ENSG00000079387.15 | transcript | ENST00000549518.6 | protein_coding | 6/17 | chr12 | TogoVar | |||||||
SENP1_chr12_48037897_48111079 | 48078334 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0358 | 1 | 158 | 0.0063 | 34 | c.553 others(51): Show |
SENP1 | ENSG00000079387.15 | transcript | ENST00000549518.6 | protein_coding | 6/17 | chr12 | TogoVar | |||||||
SENP1_chr12_48037897_48111079 | 48078334 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01243.hp2 HG01433.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0018 | a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0002g0204 others(4): Show |
7 | 164 | 0.0427 | 34 | c.553 others(51): Show |
SENP1 | ENSG00000079387.15 | transcript | ENST00000549518.6 | protein_coding | 6/17 | chr12 | TogoVar | |||||||
SENP1_chr12_48037897_48111079 | 48078334 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 HG01261.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0019 others(17): Show |
20 | 177 | 0.1130 | 34 | c.553 others(51): Show |
SENP1 | ENSG00000079387.15 | transcript | ENST00000549518.6 | protein_coding | 6/17 | chr12 | TogoVar | |||||||
SENP2_chr3_185581295_185638551 | 185589662 | T | TTTTATTT others(27): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0002 | a0002c0002 | a0002c0002t0090 | a0002c0002t0090g0283 | 1 | 358 | 0.0028 | 34 | c.102 others(49): Show |
SENP2 | ENSG00000163904.13 | transcript | ENST00000296257.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SENP7_chr3_101319205_101518212 | 101463364 | A | AATATATA others(27): Show |
intron_variant | MODIFIER | NA18993.hp2 | a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0069 | 1 | 251 | 0.0040 | 34 | c.187 others(51): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 3/23 | chr3 | TogoVar | |||||||
SEPTIN6_chrX_119611945_119698168 | 119621446 | G | GGTGTGTG others(27): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 52 | 0.0192 | 34 | c.*42 others(51): Show |
SEPTIN6 | ENSG00000125354.24 | transcript | ENST00000394610.7 | protein_coding | 10/10 | chrX | TogoVar | |||||||
SERBP1_chr1_67402810_67435402 | 67403927 | A | AAAAAAAA others(27): Show |
downstream_gene_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0075 | 1 | 95 | 0.0105 | 34 | c.*92 others(45): Show |
SERBP1 | ENSG00000142864.15 | transcript | ENST00000361219.11 | protein_coding | 3882 | chr1 | TogoVar | |||||||
SERBP1_chr1_67402810_67435402 | 67403927 | A | AAAAAAAA others(27): Show |
downstream_gene_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0018 | 1 | 95 | 0.0105 | 34 | c.*92 others(45): Show |
SERBP1 | ENSG00000142864.15 | transcript | ENST00000361219.11 | protein_coding | 3882 | chr1 | TogoVar | |||||||
SERBP1_chr1_67402810_67435402 | 67403927 | A | AAAAAAAA others(27): Show |
downstream_gene_variant | MODIFIER | NA18612.hp2 NA18987.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0157 a0001c0001t0002g0166 |
2 | 96 | 0.0208 | 34 | c.*92 others(45): Show |
SERBP1 | ENSG00000142864.15 | transcript | ENST00000361219.11 | protein_coding | 3882 | chr1 | TogoVar | |||||||
SERBP1_chr1_67402810_67435402 | 67403927 | A | AAAAAAAA others(27): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG02071.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0020a0001c0001t0027others(1): Show | a0001c0001t0002g0002 a0001c0001t0002g0150 a0001c0001t0020g0172 others(2): Show |
7 | 101 | 0.0693 | 34 | c.*92 others(45): Show |
SERBP1 | ENSG00000142864.15 | transcript | ENST00000361219.11 | protein_coding | 3882 | chr1 | TogoVar | |||||||
SERBP1_chr1_67402810_67435402 | 67403927 | A | AAAAAAAA others(27): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG00738.hp1 HG00741.hp2 others(28): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0002a0001c0001t0004a0001c0001t0012others(6): Show | a0001c0001t0002g0002 a0001c0001t0002g0021 a0001c0001t0002g0050 others(17): Show |
31 | 125 | 0.2480 | 34 | c.*92 others(45): Show |
SERBP1 | ENSG00000142864.15 | transcript | ENST00000361219.11 | protein_coding | 3882 | chr1 | TogoVar | |||||||
SERBP1_chr1_67402810_67435402 | 67403927 | A | AAAAAAAA others(27): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 HG01071.hp1 HG01106.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(5): Show | a0001c0001t0002g0007 a0001c0001t0002g0013 a0001c0001t0002g0036 others(10): Show |
14 | 108 | 0.1296 | 34 | c.*92 others(45): Show |
SERBP1 | ENSG00000142864.15 | transcript | ENST00000361219.11 | protein_coding | 3882 | chr1 | TogoVar | |||||||
SERBP1_chr1_67402810_67435402 | 67403927 | A | AAAAAATA others(27): Show |
downstream_gene_variant | MODIFIER | HG00639.hp1 HG01243.hp1 HG01934.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0002a0001c0001t0022a0002c0005t0002 | a0001c0001t0002g0007 a0001c0001t0002g0148 a0001c0001t0022g0160 others(1): Show |
5 | 99 | 0.0505 | 34 | c.*92 others(45): Show |
SERBP1 | ENSG00000142864.15 | transcript | ENST00000361219.11 | protein_coding | 3882 | chr1 | TogoVar | |||||||
SERINC1_chr6_122438351_122476807 | 122441327 | C | CAAAAAAA others(27): Show |
downstream_gene_variant | MODIFIER | NA18949.hp1 NA18954.hp1 NA18971.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 a0001c0001t0002g0025 a0001c0001t0002g0026 others(1): Show |
6 | 63 | 0.0952 | 34 | c.*37 others(45): Show |
SERINC1 | ENSG00000111897.7 | transcript | ENST00000339697.5 | protein_coding | 2023 | chr6 | TogoVar | |||||||
SERINC1_chr6_122438351_122476807 | 122451776 | A | AAAATATA others(27): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0140 | 1 | 70 | 0.0143 | 34 | c.760 others(47): Show |
SERINC1 | ENSG00000111897.7 | transcript | ENST00000339697.5 | protein_coding | 6/9 | chr6 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31413194 | G | GGCCCGGC others(27): Show |
upstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0004 | a0001c0004t0009 | a0001c0004t0009g0209 | 1 | 374 | 0.0027 | 34 | c.-72 others(41): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 18 | chr1 | TogoVar | |||||||
SERINC5_chr5_80133727_80261048 | 80181414 | T | TATTGTGT others(27): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0092 | 1 | 210 | 0.0048 | 34 | c.196 others(51): Show |
SERINC5 | ENSG00000164300.17 | transcript | ENST00000507668.7 | protein_coding | 2/11 | chr5 | TogoVar | |||||||
SERINC5_chr5_80133727_80261048 | 80233430 | A | AATATTAT others(27): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0075 | a0001c0001t0075g0284 | 1 | 284 | 0.0035 | 34 | c.27+ others(51): Show |
SERINC5 | ENSG00000164300.17 | transcript | ENST00000507668.7 | protein_coding | 1/11 | chr5 | TogoVar | |||||||
SERPINA4_chr14_94556442_94574906 | 94557879 | T | TGTGGGGG others(27): Show |
upstream_gene_variant | MODIFIER | NA19072.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 426 | 0.0023 | 34 | c.-36 others(45): Show |
SERPINA4 | ENSG00000100665.12 | transcript | ENST00000557004.6 | protein_coding | 3562 | chr14 | TogoVar | |||||||
SERPINB12_chr18_63537369_63574329 | 63559040 | T | TTCTTTCT others(27): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 223 | 0.0045 | 34 | c.304 others(49): Show |
SERPINB12 | ENSG00000166634.7 | transcript | ENST00000382768.2 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SERPINB12_chr18_63537369_63574329 | 63559040 | T | TTCTTTCT others(27): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG01346.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0011 | a0001c0001t0001g0022 a0001c0001t0001g0031 a0001c0001t0001g0048 others(6): Show |
15 | 237 | 0.0633 | 34 | c.304 others(49): Show |
SERPINB12 | ENSG00000166634.7 | transcript | ENST00000382768.2 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SERPINI1_chr3_167730721_167830569 | 167759400 | G | GTATATAT others(27): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 122 | 0.0082 | 34 | c.-19 others(53): Show |
SERPINI1 | ENSG00000163536.13 | transcript | ENST00000446050.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SERTM1_chr13_36669020_36702839 | 36678679 | T | TTATATAT others(27): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01257.hp2 HG01361.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0018 a0001c0001t0002g0010 a0001c0001t0002g0018 others(3): Show |
14 | 390 | 0.0359 | 34 | c.-17 others(53): Show |
SERTM1 | ENSG00000180440.4 | transcript | ENST00000315190.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SERTM1_chr13_36669020_36702839 | 36678688 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0032 | 2 | 436 | 0.0046 | 34 | c.-17 others(53): Show |
SERTM1 | ENSG00000180440.4 | transcript | ENST00000315190.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SETD3_chr14_99392748_99485859 | 99423588 | C | CAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01433.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0010 others(4): Show |
8 | 32 | 0.2500 | 34 | c.676 others(51): Show |
SETD3 | ENSG00000183576.13 | transcript | ENST00000331768.10 | protein_coding | 6/12 | chr14 | TogoVar | |||||||
SEZ6L_chr22_26164462_26388596 | 26348646 | A | AAGAAAGA others(27): Show |
intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0083 | 1 | 70 | 0.0143 | 34 | c.240 others(51): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SEZ6L_chr22_26164462_26388596 | 26348767 | A | AGGGGAGG others(27): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00621.hp1 others(43): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0006others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0226 a0001c0001t0002g0057 a0001c0001t0002g0077 others(43): Show |
46 | 235 | 0.1957 | 34 | c.240 others(51): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SF3A2_chr19_2231824_2253655 | 2232738 | T | TGGGGAGG others(27): Show |
upstream_gene_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 | 1 | 418 | 0.0024 | 34 | c.-42 others(45): Show |
SF3A2 | ENSG00000104897.10 | transcript | ENST00000221494.10 | protein_coding | 4085 | chr19 | TogoVar | |||||||
SF3B1_chr2_197384784_197440028 | 197418234 | C | CAAAAAAA others(27): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0146 | 1 | 12 | 0.0833 | 34 | c.495 others(49): Show |
SF3B1 | ENSG00000115524.17 | transcript | ENST00000335508.11 | protein_coding | 5/24 | chr2 | TogoVar | |||||||
SF3B3_chr16_70518816_70582668 | 70532357 | C | CAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0060 | 1 | 98 | 0.0102 | 34 | c.571 others(49): Show |
SF3B3 | ENSG00000189091.13 | transcript | ENST00000302516.10 | protein_coding | 4/25 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SFI1_chr22_31491536_31623588 | 31582236 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | NA18953.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0031 | 1 | 77 | 0.0130 | 34 | c.124 others(53): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 12/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SFI1_chr22_31491536_31623588 | 31612396 | A | AATATATA others(27): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0016 | a0016c0018 | a0016c0018t0001 | a0016c0018t0001g0201 | 1 | 233 | 0.0043 | 34 | c.249 others(51): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 24/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SFI1_chr22_31491536_31623588 | 31612398 | A | AAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0011 | a0011c0021 | a0011c0021t0001 | a0011c0021t0001g0036 | 1 | 128 | 0.0078 | 34 | c.249 others(51): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 24/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SFMBT1_chr3_52898572_53051073 | 52945136 | T | TAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02074.hp1 HG02132.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0054 a0001c0001t0001g0177 a0001c0001t0001g0179 others(10): Show |
13 | 130 | 0.1000 | 34 | c.124 others(51): Show |
SFMBT1 | ENSG00000163935.14 | transcript | ENST00000394752.8 | protein_coding | 3/20 | chr3 | TogoVar | |||||||
SFMBT2_chr10_7153624_7416034 | 7186459 | C | CACACACA others(27): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0028 | 1 | 88 | 0.0114 | 34 | c.180 others(53): Show |
SFMBT2 | ENSG00000198879.13 | transcript | ENST00000397167.6 | protein_coding | 16/20 | chr10 | TogoVar | |||||||
SFSWAP_chr12_131706090_131804738 | 131783792 | T | TTATATAT others(27): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01168.hp1 HG01496.hp1 others(10): Show |
a0001 | a0001c0001a0001c0031 | a0001c0001t0001a0001c0031t0001 | a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0106 others(10): Show |
13 | 45 | 0.2889 | 34 | c.240 others(53): Show |
SFSWAP | ENSG00000061936.10 | transcript | ENST00000261674.9 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SFXN4_chr10_119135767_119170714 | 119146460 | T | TGTGTGTG others(27): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0168 | 1 | 194 | 0.0052 | 34 | c.819 others(49): Show |
SFXN4 | ENSG00000183605.17 | transcript | ENST00000355697.7 | protein_coding | 12/13 | chr10 | TogoVar |