regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SERGEF_chr11_17783048_18018047 | 17896858 | G | GAAGGGTA others(26): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 226 | 0.0044 | 33 | c.101 others(54): Show |
SERGEF | ENSG00000129158.11 | transcript | ENST00000265965.10 | protein_coding | 9/10 | chr11 | TogoVar | ||||||
SERINC1_chr6_122438351_122476807 | 122441327 | C | CAAAAAAA others(26): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG01258.hp1 HG01346.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0003a0001c0001t0002g0022a0001c0001t0002g0026others(1): Show | 5 | 366 | 0.0137 | 33 | c.*37 others(44): Show |
SERINC1 | ENSG00000111897.7 | transcript | ENST00000339697.5 | protein_coding | 2023 | chr6 | TogoVar | ||||||
SERINC1_chr6_122438351_122476807 | 122476446 | C | CAAATGTA others(26): Show |
upstream_gene_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 366 | 0.0027 | 33 | c.-47 others(44): Show |
SERINC1 | ENSG00000111897.7 | transcript | ENST00000339697.5 | protein_coding | 4640 | chr6 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31413153 | T | TGGGGCGG others(26): Show |
upstream_gene_variant | MODIFIER | HG02895.hp1 HG02897.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0113a0001c0001t0007g0002 | 3 | 376 | 0.0080 | 33 | c.-11 others(42): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 59 | chr1 | TogoVar | ||||||
SERPINA5_chr14_94576426_94598118 | 94591564 | A | ATTCTATT others(26): Show |
intron_variant | MODIFIER | HG03453.hp2 HG03579.hp2 |
a0003 | a0003c0002 | a0003c0002t0004a0003c0002t0010 | a0003c0002t0004g0275a0003c0002t0010g0072 | 2 | 464 | 0.0043 | 33 | c.103 others(50): Show |
SERPINA5 | ENSG00000188488.14 | transcript | ENST00000329597.12 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
SETD1B_chr12_121799009_121837656 | 121799727 | G | GGGGGTGG others(26): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0095 | 1 | 262 | 0.0038 | 33 | c.-45 others(44): Show |
SETD1B | ENSG00000139718.12 | transcript | ENST00000604567.6 | protein_coding | 4281 | chr12 | TogoVar | ||||||
SETD2_chr3_47011436_47169113 | 47049747 | A | ATATATAT others(26): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02015.hp2 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0152a0002c0001t0001g0153 | 2 | 308 | 0.0065 | 33 | c.696 others(52): Show |
SETD2 | ENSG00000181555.22 | transcript | ENST00000409792.4 | protein_coding | 15/20 | chr3 | TogoVar | ||||||
SETD3_chr14_99392748_99485859 | 99423588 | C | CAAAAAAA others(26): Show |
intron_variant | MODIFIER | NA18964.hp2 NA18974.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108a0001c0001t0001g0124 | 2 | 290 | 0.0069 | 33 | c.676 others(50): Show |
SETD3 | ENSG00000183576.13 | transcript | ENST00000331768.10 | protein_coding | 6/12 | chr14 | TogoVar | ||||||
SETDB2_chr13_49439274_49500003 | 49441222 | T | TATATATA others(26): Show |
upstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0243 | 1 | 406 | 0.0025 | 33 | c.-39 others(44): Show |
SETDB2 | ENSG00000136169.17 | transcript | ENST00000611815.2 | protein_coding | 3051 | chr13 | TogoVar | ||||||
SETDB2_chr13_49439274_49500003 | 49441226 | T | TATATATA others(26): Show |
upstream_gene_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0002 | a0001c0002t0020 | a0001c0002t0020g0267 | 1 | 406 | 0.0025 | 33 | c.-39 others(44): Show |
SETDB2 | ENSG00000136169.17 | transcript | ENST00000611815.2 | protein_coding | 3047 | chr13 | TogoVar | ||||||
SEZ6L_chr22_26164462_26388596 | 26348646 | A | AAGAAAGA others(26): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0158 | 1 | 240 | 0.0042 | 33 | c.240 others(50): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SEZ6L_chr22_26164462_26388596 | 26348646 | A | AAGAGAAA others(26): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0005 | a0002c0005t0007 | a0002c0005t0007g0147 | 1 | 240 | 0.0042 | 33 | c.240 others(50): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SF3B1_chr2_197384784_197440028 | 197418234 | C | CAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0333 | 1 | 344 | 0.0029 | 33 | c.495 others(48): Show |
SF3B1 | ENSG00000115524.17 | transcript | ENST00000335508.11 | protein_coding | 5/24 | chr2 | TogoVar | ||||||
SFI1_chr22_31491536_31623588 | 31582236 | A | ATATATAT others(26): Show |
intron_variant | MODIFIER | NA19055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 | 1 | 322 | 0.0031 | 33 | c.124 others(52): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 12/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SFI1_chr22_31491536_31623588 | 31612390 | A | ATATATAT others(26): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0076 | 1 | 322 | 0.0031 | 33 | c.249 others(50): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 24/32 | chr22 | TogoVar | ||||||
SFMBT1_chr3_52898572_53051073 | 52945136 | T | TAAAAAAA others(26): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0253 | 1 | 328 | 0.0031 | 33 | c.124 others(50): Show |
SFMBT1 | ENSG00000163935.14 | transcript | ENST00000394752.8 | protein_coding | 3/20 | chr3 | TogoVar | ||||||
SFXN5_chr2_72937036_73076712 | 73050421 | C | CACACACA others(26): Show |
intron_variant | MODIFIER | NA18612.hp1 NA18959.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0059a0001c0002t0002g0047 | 2 | 250 | 0.0080 | 33 | c.171 others(50): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | TogoVar | ||||||
SGCG_chr13_23175979_23330162 | 23322758 | C | CACCCCCA others(26): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0278 | 1 | 354 | 0.0028 | 33 | c.703 others(50): Show |
SGCG | ENSG00000102683.8 | transcript | ENST00000218867.4 | protein_coding | 7/7 | chr13 | TogoVar | ||||||
SGIP1_chr1_66529153_66756139 | 66660015 | A | AAAGAAAG others(26): Show |
intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0195 | 1 | 302 | 0.0033 | 33 | c.460 others(48): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 7/24 | chr1 | TogoVar | ||||||
SGIP1_chr1_66529153_66756139 | 66660106 | A | AGGAAGGA others(26): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02976.hp2 HG03130.hp2 others(2): Show |
a0001a0006 | a0001c0001a0006c0016 | a0001c0001t0022a0001c0001t0024a0001c0001t0036others(2): Show | a0001c0001t0022g0184a0001c0001t0024g0001a0001c0001t0036g0238others(2): Show | 5 | 302 | 0.0166 | 33 | c.460 others(48): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SGK1_chr6_134164256_134323112 | 134232413 | G | GAAAAGAA others(26): Show |
intron_variant | MODIFIER | HG02523.hp2 HG03130.hp1 HG03239.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051a0001c0001t0001g0107a0001c0001t0001g0138 | 3 | 250 | 0.0120 | 33 | c.286 others(52): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 2/13 | chr6 | TogoVar | ||||||
SGK1_chr6_134164256_134323112 | 134232413 | G | GAAAAGAA others(26): Show |
intron_variant | MODIFIER | HG01981.hp1 HG02735.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0102a0001c0002t0002g0159 | 2 | 250 | 0.0080 | 33 | c.286 others(52): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 2/13 | chr6 | TogoVar | ||||||
SGK3_chr8_66707781_66867022 | 66726801 | T | TAAAAAAA others(26): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0056 | 1 | 142 | 0.0070 | 33 | c.-12 others(54): Show |
SGK3 | ENSG00000104205.16 | transcript | ENST00000521198.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
SGMS2_chr4_107819932_107920047 | 107902289 | C | CAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0067 | 1 | 270 | 0.0037 | 33 | c.574 others(48): Show |
SGMS2 | ENSG00000164023.15 | transcript | ENST00000690982.1 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SGPP2_chr2_222419543_222567621 | 222422285 | C | CAAAAAAA others(26): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG02717.hp1 HG02886.hp2 |
a0001 | a0001c0001a0001c0002a0001c0013 | a0001c0001t0063a0001c0002t0095a0001c0013t0009 | a0001c0001t0063g0095a0001c0002t0095g0014a0001c0013t0009g0033 | 3 | 272 | 0.0110 | 33 | c.-23 others(44): Show |
SGPP2 | ENSG00000163082.10 | transcript | ENST00000321276.8 | protein_coding | 2257 | chr2 | TogoVar | ||||||
SGPP2_chr2_222419543_222567621 | 222556775 | T | TCCCCCTC others(26): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00609.hp1 others(37): Show |
a0001a0002 | a0001c0001a0001c0006a0001c0014others(1): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0010others(15): Show | a0001c0001t0004g0008a0001c0001t0004g0057a0001c0001t0004g0138others(37): Show | 40 | 272 | 0.1471 | 33 | c.649 others(50): Show |
SGPP2 | ENSG00000163082.10 | transcript | ENST00000321276.8 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SH2D4B_chr10_80532902_80651560 | 80651277 | A | ATGTCCCC others(26): Show |
downstream_gene_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 322 | 0.0031 | 33 | c.*71 others(44): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 4718 | chr10 | TogoVar | ||||||
SH2D7_chr15_78087561_78109362 | 78089517 | G | GTTTTTTT others(26): Show |
upstream_gene_variant | MODIFIER | NA18957.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0069 | 1 | 432 | 0.0023 | 33 | c.-30 others(44): Show |
SH2D7 | ENSG00000183476.13 | transcript | ENST00000328828.6 | protein_coding | 3043 | chr15 | TogoVar | ||||||
SH3BP5_chr3_15249353_15337586 | 15335627 | T | TATGTAGG others(26): Show |
upstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0360 | 1 | 376 | 0.0027 | 33 | c.-32 others(44): Show |
SH3BP5 | ENSG00000131370.16 | transcript | ENST00000383791.8 | protein_coding | 3042 | chr3 | TogoVar | ||||||
SH3GL2_chr9_17574066_17802124 | 17623039 | T | TCCTTTCC others(26): Show |
intron_variant | MODIFIER | HG02055.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192a0001c0001t0001g0194 | 2 | 260 | 0.0077 | 33 | c.45+ others(50): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SH3GLB1_chr1_86699576_86753184 | 86724892 | A | AAAAAAAA others(26): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0098 | 1 | 318 | 0.0031 | 33 | c.570 others(48): Show |
SH3GLB1 | ENSG00000097033.15 | transcript | ENST00000370558.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SH3KBP1_chrX_19528977_19892600 | 19551550 | C | CTTTTTTT others(26): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0068 | 1 | 204 | 0.0049 | 33 | c.138 others(52): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | TogoVar | ||||||
SH3KBP1_chrX_19528977_19892600 | 19567551 | A | ATATATAT others(26): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 204 | 0.0049 | 33 | c.138 others(52): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | TogoVar | ||||||
SH3KBP1_chrX_19528977_19892600 | 19874068 | A | AAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0049 | 1 | 204 | 0.0049 | 33 | c.4+1 others(48): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | TogoVar | ||||||
SH3KBP1_chrX_19528977_19892600 | 19874068 | A | AAAAAAAT others(26): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01884.hp1 |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0010t0001 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0010t0001g0199 | 3 | 204 | 0.0147 | 33 | c.4+1 others(48): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | TogoVar | ||||||
SH3RF1_chr4_169089259_169275956 | 169145867 | G | GTATTCTA others(26): Show |
intron_variant | MODIFIER | HG02723.hp1 NA18953.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0150a0001c0001t0015g0176 | 2 | 216 | 0.0093 | 33 | c.766 others(50): Show |
SH3RF1 | ENSG00000154447.15 | transcript | ENST00000284637.14 | protein_coding | 4/11 | chr4 | TogoVar | ||||||
SH3TC1_chr4_8194290_8246103 | 8211369 | T | TCCTCTCC others(26): Show |
intron_variant | MODIFIER | HG00735.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250a0001c0001t0001g0251 | 2 | 374 | 0.0054 | 33 | c.248 others(50): Show |
SH3TC1 | ENSG00000125089.18 | transcript | ENST00000245105.8 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SHC4_chr15_48818741_48968919 | 48919295 | A | ATTTTTTT others(26): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 384 | 0.0026 | 33 | c.656 others(50): Show |
SHC4 | ENSG00000185634.12 | transcript | ENST00000332408.9 | protein_coding | 2/11 | chr15 | TogoVar | ||||||
SHCBP1L_chr1_182894865_182958166 | 182924701 | G | GAAAGGAA others(26): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 | 1 | 302 | 0.0033 | 33 | c.118 others(52): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 6/9 | chr1 | TogoVar | ||||||
SHCBP1L_chr1_182894865_182958166 | 182924974 | G | GAAAGAAA others(26): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 302 | 0.0033 | 33 | c.118 others(52): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 6/9 | chr1 | TogoVar | ||||||
SHCBP1_chr16_46573591_46626379 | 46578211 | A | AGGGAAGG others(26): Show |
downstream_gene_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 184 | 0.0054 | 33 | c.*35 others(44): Show |
SHCBP1 | ENSG00000171241.9 | transcript | ENST00000303383.8 | protein_coding | 379 | chr16 | TogoVar | ||||||
SHISAL1_chr22_44238665_44317951 | 44246854 | C | CACTCTGC others(26): Show |
3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
a0001 | a0001c0001a0001c0004a0001c0005others(232): Show | a0001c0001t0007a0001c0004t0010a0001c0005t0063others(240): Show | a0001c0001t0007g0001a0001c0001t0007g0022a0001c0004t0010g0065others(245): Show | 257 | 380 | 0.6763 | 33 | c.*28 others(44): Show |
SHISAL1 | ENSG00000138944.8 | transcript | ENST00000381176.5 | protein_coding | 5/5 | 2830 | chr22 | TogoVar | |||||
SHISAL1_chr22_44238665_44317951 | 44261077 | T | TATATATA others(26): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0042 | a0001c0042t0045 | a0001c0042t0045g0037 | 1 | 380 | 0.0026 | 33 | c.600 others(52): Show |
SHISAL1 | ENSG00000138944.8 | transcript | ENST00000381176.5 | protein_coding | 4/4 | chr22 | TogoVar | ||||||
SHLD1_chr20_5745401_5869395 | 5758328 | A | AGGGGAGG others(26): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03453.hp2 NA19030.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0005a0001c0002t0006 | a0001c0002t0002g0313a0001c0002t0005g0314a0001c0002t0005g0318others(1): Show | 4 | 328 | 0.0122 | 33 | c.-5+ others(48): Show |
SHLD1 | ENSG00000171984.15 | transcript | ENST00000303142.11 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SHLD1_chr20_5745401_5869395 | 5758362 | G | GGGGAGGG others(26): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02615.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0005 | a0001c0002t0002g0316a0001c0002t0005g0317 | 2 | 328 | 0.0061 | 33 | c.-5+ others(48): Show |
SHLD1 | ENSG00000171984.15 | transcript | ENST00000303142.11 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SHLD1_chr20_5745401_5869395 | 5764160 | A | ATATATAT others(26): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0232 | 1 | 328 | 0.0031 | 33 | c.-4- others(48): Show |
SHLD1 | ENSG00000171984.15 | transcript | ENST00000303142.11 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SHOX2_chr3_158090905_158111420 | 158106620 | A | AGAGAGAG others(26): Show |
upstream_gene_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0016 | 1 | 380 | 0.0026 | 33 | c.-59 others(42): Show |
SHOX2 | ENSG00000168779.21 | transcript | ENST00000483851.7 | protein_coding | 201 | chr3 | TogoVar | ||||||
SHOX_chrX_625791_656584 | 628105 | G | GTCTCTGC others(26): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(120): Show |
a0000a0001a0002 | a0000c0002a0001c0001a0002c0005 | a0000c0002t0085a0000c0002t0097a0001c0001t0001others(108): Show | a0000c0002t0085g0045a0000c0002t0097g0194a0001c0001t0001g0005others(117): Show | 123 | 220 | 0.5591 | 33 | c.-27 others(44): Show |
SHOX | ENSG00000185960.15 | transcript | ENST00000686671.1 | protein_coding | 2685 | chrX | TogoVar | ||||||
SHROOM2_chrX_9781429_9954443 | 9816580 | C | CCTGCTGC others(26): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0002 | a0002c0010 | a0002c0010t0005 | a0002c0010t0005g0011 | 1 | 256 | 0.0039 | 33 | c.165 others(52): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
SHROOM3_chr4_76430229_76788253 | 76689356 | G | GAGCGCCG others(26): Show |
intron_variant | MODIFIER | HG02273.hp1 HG04115.hp1 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0010a0003c0003t0001g0096 | 2 | 218 | 0.0092 | 33 | c.324 others(52): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |