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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SFI1_chr22_31491536_31623588 | 31612398 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0104 | 1 | 128 | 0.0078 | 17 | c.249 others(34): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 24/32 | chr22 | TogoVar | |||||||
SFMBT1_chr3_52898572_53051073 | 52945136 | T | TAAAAAAA others(10): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 118 | 0.0085 | 17 | c.124 others(34): Show |
SFMBT1 | ENSG00000163935.14 | transcript | ENST00000394752.8 | protein_coding | 3/20 | chr3 | TogoVar | |||||||
SFMBT1_chr3_52898572_53051073 | 52945136 | T | TGAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00673.hp2 HG04199.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0281 a0001c0001t0002g0283 |
2 | 119 | 0.0168 | 17 | c.124 others(34): Show |
SFMBT1 | ENSG00000163935.14 | transcript | ENST00000394752.8 | protein_coding | 3/20 | chr3 | TogoVar | |||||||
SFMBT1_chr3_52898572_53051073 | 52948825 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0295 | 1 | 109 | 0.0092 | 17 | c.124 others(34): Show |
SFMBT1 | ENSG00000163935.14 | transcript | ENST00000394752.8 | protein_coding | 3/20 | chr3 | TogoVar | |||||||
SFMBT1_chr3_52898572_53051073 | 53006628 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01993.hp1 HG02148.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0154 a0001c0001t0002g0272 a0001c0001t0002g0273 others(14): Show |
17 | 298 | 0.0570 | 17 | c.-13 others(38): Show |
SFMBT1 | ENSG00000163935.14 | transcript | ENST00000394752.8 | protein_coding | 1/20 | chr3 | TogoVar | |||||||
SFMBT1_chr3_52898572_53051073 | 53040968 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | NA18955.hp1 NA18990.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010 a0001c0001t0002g0036 |
2 | 52 | 0.0385 | 17 | c.-13 others(36): Show |
SFMBT1 | ENSG00000163935.14 | transcript | ENST00000394752.8 | protein_coding | 1/20 | chr3 | TogoVar | |||||||
SFMBT2_chr10_7153624_7416034 | 7207483 | A | AAGGAAGG others(10): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01192.hp1 HG01891.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0007a0001c0001t0009others(3): Show | a0001c0001t0004g0069 a0001c0001t0007g0017 a0001c0001t0009g0055 others(4): Show |
7 | 142 | 0.0493 | 17 | c.133 others(36): Show |
SFMBT2 | ENSG00000198879.13 | transcript | ENST00000397167.6 | protein_coding | 11/20 | chr10 | TogoVar | |||||||
SFMBT2_chr10_7153624_7416034 | 7315038 | G | GAAGAAAG others(10): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0056 | 1 | 30 | 0.0333 | 17 | c.437 others(36): Show |
SFMBT2 | ENSG00000198879.13 | transcript | ENST00000397167.6 | protein_coding | 4/20 | chr10 | TogoVar | |||||||
SFRP1_chr8_41256962_41314473 | 41282564 | A | ATAAATAA others(10): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02809.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0019 a0001c0001t0016g0022 a0001c0001t0016g0101 |
3 | 378 | 0.0079 | 17 | c.623 others(36): Show |
SFRP1 | ENSG00000104332.12 | transcript | ENST00000220772.8 | protein_coding | 2/2 | chr8 | TogoVar | |||||||
SFRP5_chr10_97761751_97776999 | 97776018 | G | GTGGAGGT others(10): Show |
upstream_gene_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 378 | 0.0026 | 17 | c.-41 others(28): Show |
SFRP5 | ENSG00000120057.5 | transcript | ENST00000266066.4 | protein_coding | 4020 | chr10 | TogoVar | |||||||
SFSWAP_chr12_131706090_131804738 | 131738885 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02148.hp1 NA18941.hp1 NA18960.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 a0001c0001t0001g0164 a0001c0001t0001g0228 |
3 | 33 | 0.0909 | 17 | c.108 others(38): Show |
SFSWAP | ENSG00000061936.10 | transcript | ENST00000261674.9 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SFT2D1_chr6_166314728_166347545 | 166314867 | A | ATATATAT others(10): Show |
downstream_gene_variant | MODIFIER | NA18987.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0049 | 1 | 173 | 0.0058 | 17 | c.*53 others(28): Show |
SFT2D1 | ENSG00000198818.10 | transcript | ENST00000361731.4 | protein_coding | 4860 | chr6 | TogoVar | |||||||
SFT2D1_chr6_166314728_166347545 | 166314867 | A | ATATATAT others(10): Show |
downstream_gene_variant | MODIFIER | HG01346.hp1 HG01433.hp1 HG02451.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004 | a0001c0002t0002g0045 a0001c0002t0002g0048 a0001c0002t0004g0162 others(1): Show |
5 | 177 | 0.0282 | 17 | c.*53 others(28): Show |
SFT2D1 | ENSG00000198818.10 | transcript | ENST00000361731.4 | protein_coding | 4860 | chr6 | TogoVar | |||||||
SFT2D1_chr6_166314728_166347545 | 166314868 | T | TATATATA others(10): Show |
downstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0161 | 1 | 338 | 0.0030 | 17 | c.*53 others(28): Show |
SFT2D1 | ENSG00000198818.10 | transcript | ENST00000361731.4 | protein_coding | 4859 | chr6 | TogoVar | |||||||
SFXN1_chr5_175473560_175534742 | 175531746 | A | ATTTTTTT others(10): Show |
downstream_gene_variant | MODIFIER | HG03669.hp2 HG03942.hp1 |
a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0021 a0001c0003t0007g0077 |
2 | 146 | 0.0137 | 17 | c.*50 others(28): Show |
SFXN1 | ENSG00000164466.13 | transcript | ENST00000321442.10 | protein_coding | 2005 | chr5 | TogoVar | |||||||
SFXN4_chr10_119135767_119170714 | 119135791 | T | TAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0008 | 1 | 5 | 0.2000 | 17 | c.*54 others(28): Show |
SFXN4 | ENSG00000183605.17 | transcript | ENST00000355697.7 | protein_coding | 4975 | chr10 | TogoVar | |||||||
SFXN5_chr2_72937036_73076712 | 73050421 | C | CACACACA others(10): Show |
intron_variant | MODIFIER | HG01243.hp2 HG03516.hp2 |
a0001 | a0001c0002a0001c0009 | a0001c0002t0003a0001c0009t0004 | a0001c0002t0003g0202 a0001c0009t0004g0027 |
2 | 240 | 0.0083 | 17 | c.171 others(34): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
SGCA_chr17_50161005_50180928 | 50176651 | C | CAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | HG02572.hp1 HG02717.hp1 HG02809.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0003 | a0001c0001t0003g0086 a0001c0002t0003g0016 a0001c0002t0003g0112 |
4 | 6 | 0.6667 | 17 | c.*95 others(26): Show |
SGCA | ENSG00000108823.17 | transcript | ENST00000262018.8 | protein_coding | 724 | chr17 | TogoVar | |||||||
SGCB_chr4_52015706_52043299 | 52034331 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 4 | 0.2500 | 17 | c.34- others(30): Show |
SGCB | ENSG00000163069.13 | transcript | ENST00000381431.10 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
SGCD_chr5_156322164_156772788 | 156350241 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0002 | a0001c0002t0054 | a0001c0002t0054g0073 | 1 | 148 | 0.0068 | 17 | c.192 others(34): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 3/8 | chr5 | TogoVar | |||||||
SGCD_chr5_156322164_156772788 | 156653493 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01070.hp2 HG01071.hp1 others(22): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0016others(17): Show | a0001c0001t0001g0023 a0001c0001t0003g0056 a0001c0001t0003g0119 others(22): Show |
25 | 34 | 0.7353 | 17 | c.575 others(34): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SGCG_chr13_23175979_23330162 | 23292119 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02148.hp2 HG02257.hp2 others(2): Show |
a0001a0002 | a0001c0002a0001c0004a0001c0005others(1): Show | a0001c0002t0002a0001c0004t0003a0001c0004t0008others(2): Show | a0001c0002t0002g0300 a0001c0004t0003g0244 a0001c0004t0008g0166 others(2): Show |
5 | 285 | 0.0175 | 17 | c.506 others(34): Show |
SGCG | ENSG00000102683.8 | transcript | ENST00000218867.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SGCZ_chr8_14079845_15243431 | 14146890 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0063 | a0001c0001t0063g0094 | 1 | 81 | 0.0123 | 17 | c.547 others(36): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 5/7 | chr8 | TogoVar | |||||||
SGCZ_chr8_14079845_15243431 | 14146890 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0029 | 1 | 81 | 0.0123 | 17 | c.547 others(36): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 5/7 | chr8 | TogoVar | |||||||
SGCZ_chr8_14079845_15243431 | 14177958 | C | CTTTTCTT others(10): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02622.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0034a0001c0001t0055 | a0001c0001t0015g0005 a0001c0001t0034g0030 a0001c0001t0055g0100 |
3 | 82 | 0.0366 | 17 | c.425 others(36): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 4/7 | chr8 | TogoVar | |||||||
SGCZ_chr8_14079845_15243431 | 14326111 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0048 | 1 | 20 | 0.0500 | 17 | c.235 others(34): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 2/7 | chr8 | TogoVar | |||||||
SGCZ_chr8_14079845_15243431 | 14479731 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0010 | 1 | 66 | 0.0152 | 17 | c.234 others(36): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 2/7 | chr8 | TogoVar | |||||||
SGCZ_chr8_14079845_15243431 | 14493359 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0059 | a0001c0001t0059g0056 | 1 | 5 | 0.2000 | 17 | c.234 others(36): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 2/7 | chr8 | TogoVar | |||||||
SGCZ_chr8_14079845_15243431 | 14769793 | T | TAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0073 | a0001c0001t0073g0053 | 1 | 29 | 0.0345 | 17 | c.40- others(36): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 1/7 | chr8 | TogoVar | |||||||
SGCZ_chr8_14079845_15243431 | 14847126 | A | AAGAAGAA others(10): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0070 | a0001c0001t0070g0081 | 1 | 11 | 0.0909 | 17 | c.40- others(36): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 1/7 | chr8 | TogoVar | |||||||
SGIP1_chr1_66529153_66756139 | 66630921 | A | AGGGAGGG others(10): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0129 | 1 | 255 | 0.0039 | 17 | c.75- others(32): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SGIP1_chr1_66529153_66756139 | 66660140 | G | GAAAGAAA others(10): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0255 | 1 | 225 | 0.0044 | 17 | c.460 others(32): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SGIP1_chr1_66529153_66756139 | 66695255 | T | TAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03139.hp2 NA19030.hp1 NA19043.hp1 |
a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0209 a0002c0006t0002g0210 a0002c0006t0002g0211 |
3 | 67 | 0.0448 | 17 | c.157 others(34): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SGIP1_chr1_66529153_66756139 | 66742460 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG00639.hp2 others(18): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0013others(2): Show | a0001c0001t0001a0001c0001t0045a0001c0004t0001others(5): Show | a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 others(18): Show |
21 | 133 | 0.1579 | 17 | c.246 others(34): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 24/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SGK1_chr6_134164256_134323112 | 134191835 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0006 | a0001c0006t0004 | a0001c0006t0004g0224 | 1 | 43 | 0.0233 | 17 | c.361 others(36): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 3/13 | chr6 | TogoVar | |||||||
SGK1_chr6_134164256_134323112 | 134206383 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 150 | 0.0067 | 17 | c.361 others(32): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 3/13 | chr6 | TogoVar | |||||||
SGK1_chr6_134164256_134323112 | 134220058 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0013 | 1 | 32 | 0.0313 | 17 | c.286 others(36): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 2/13 | chr6 | TogoVar | |||||||
SGK1_chr6_134164256_134323112 | 134232411 | A | AAGAAAAG others(10): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00741.hp1 HG01258.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0082 a0001c0001t0001g0094 a0001c0001t0001g0142 others(5): Show |
8 | 236 | 0.0339 | 17 | c.286 others(36): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 2/13 | chr6 | TogoVar | |||||||
SGK1_chr6_134164256_134323112 | 134273592 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01069.hp2 HG01074.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 others(1): Show |
4 | 50 | 0.0800 | 17 | c.70- others(34): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 1/13 | chr6 | TogoVar | |||||||
SGK3_chr8_66707781_66867022 | 66726801 | T | TAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0065 | 1 | 63 | 0.0159 | 17 | c.-12 others(38): Show |
SGK3 | ENSG00000104205.16 | transcript | ENST00000521198.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SGO2_chr2_200521207_200589096 | 200522368 | C | CTTTCTTT others(10): Show |
upstream_gene_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0290 | 1 | 368 | 0.0027 | 17 | c.-38 others(28): Show |
SGO2 | ENSG00000163535.18 | transcript | ENST00000357799.9 | protein_coding | 3838 | chr2 | TogoVar | |||||||
SGO2_chr2_200521207_200589096 | 200588726 | C | CTTTTTTT others(10): Show |
downstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01071.hp2 others(6): Show |
a0001a0003 | a0001c0002a0001c0004a0001c0012others(1): Show | a0001c0002t0001a0001c0004t0001a0001c0012t0001others(1): Show | a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0258 others(5): Show |
9 | 89 | 0.1011 | 17 | c.*52 others(28): Show |
SGO2 | ENSG00000163535.18 | transcript | ENST00000357799.9 | protein_coding | 4631 | chr2 | TogoVar | |||||||
SGPP1_chr14_63679216_63733065 | 63688315 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0046 | 1 | 183 | 0.0055 | 17 | c.775 others(34): Show |
SGPP1 | ENSG00000126821.8 | transcript | ENST00000247225.7 | protein_coding | 2/2 | chr14 | TogoVar | |||||||
SGPP2_chr2_222419543_222567621 | 222422285 | C | CAAAAAAA others(10): Show |
upstream_gene_variant | MODIFIER | NA18966.hp1 NA18974.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0179 a0001c0001t0015g0197 |
2 | 49 | 0.0408 | 17 | c.-23 others(28): Show |
SGPP2 | ENSG00000163082.10 | transcript | ENST00000321276.8 | protein_coding | 2257 | chr2 | TogoVar | |||||||
SGSM1_chr22_24801211_24932578 | 24807888 | C | CGTGTGGT others(10): Show |
intron_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0158 | 1 | 131 | 0.0076 | 17 | c.63+ others(32): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SGSM1_chr22_24801211_24932578 | 24822088 | C | CTCTTTTT others(10): Show |
intron_variant | MODIFIER | NA18945.hp1 NA18969.hp1 NA19077.hp1 |
a0001 | a0001c0001a0001c0027 | a0001c0001t0006a0001c0027t0003 | a0001c0001t0006g0102 a0001c0001t0006g0282 a0001c0027t0003g0099 |
3 | 76 | 0.0395 | 17 | c.63+ others(34): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SGSM1_chr22_24801211_24932578 | 24860916 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG02083.hp1 NA19060.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0248 a0001c0001t0004g0171 |
2 | 267 | 0.0075 | 17 | c.926 others(34): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 9/24 | chr22 | TogoVar | |||||||
SGSM2_chr17_2332501_2386054 | 2354215 | T | TTTTGTTT others(10): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(224): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0003a0001c0020others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0018 others(216): Show |
227 | 417 | 0.5444 | 17 | c.134 others(34): Show |
SGSM2 | ENSG00000141258.13 | transcript | ENST00000268989.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SGTB_chr5_65660928_65727109 | 65723814 | C | CAAAAAAA others(10): Show |
upstream_gene_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0048 | 1 | 240 | 0.0042 | 17 | c.-19 others(28): Show |
SGTB | ENSG00000197860.10 | transcript | ENST00000381007.9 | protein_coding | 1706 | chr5 | TogoVar | |||||||
SH2B2_chr7_102281868_102326711 | 102299197 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02647.hp2 HG02723.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0002 | a0001c0001t0001g0289 a0001c0001t0002g0096 a0001c0001t0002g0099 others(2): Show |
5 | 97 | 0.0515 | 17 | c.-29 others(34): Show |
SH2B2 | ENSG00000160999.11 | transcript | ENST00000444095.3 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |