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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SEPTIN7_chr7_35796057_35912110 | 35838302 | TTCCCTCC others(33): Show |
T | intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0254 | 1 | 282 | 0.0035 | -40 | c.169 others(57): Show |
SEPTIN7 | ENSG00000122545.22 | transcript | ENST00000350320.11 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SERGEF_chr11_17783048_18018047 | 17896853 | TAAGGGAA others(33): Show |
T | intron_variant | MODIFIER | NA18943.hp1 NA18973.hp2 NA18995.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0153 a0001c0002t0002g0154 a0001c0002t0002g0192 others(1): Show |
4 | 105 | 0.0381 | -40 | c.101 others(61): Show |
SERGEF | ENSG00000129158.11 | transcript | ENST00000265965.10 | protein_coding | 9/10 | chr11 | TogoVar | |||||||
SERPINB1_chr6_2827332_2846863 | 2836639 | CTTCAAAT others(33): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(225): Show |
a0001a0003a0004 | a0001c0001a0003c0005a0004c0006 | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(35): Show |
228 | 476 | 0.4790 | -40 | c.425 others(55): Show |
SERPINB1 | ENSG00000021355.13 | transcript | ENST00000380739.6 | protein_coding | 4/6 | chr6 | TogoVar | |||||||
SESN1_chr6_108979309_109099846 | 109099072 | TATTTTAG others(33): Show |
T | upstream_gene_variant | MODIFIER | HG03704.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0129 | 1 | 182 | 0.0055 | -40 | c.-50 others(51): Show |
SESN1 | ENSG00000080546.14 | transcript | ENST00000436639.7 | protein_coding | 4227 | chr6 | TogoVar | |||||||
SESTD1_chr2_179096678_179269832 | 179185898 | GTATATTA others(33): Show |
G | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01358.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0019a0001c0001t0020others(1): Show | a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0171 others(23): Show |
26 | 272 | 0.0956 | -40 | c.56- others(55): Show |
SESTD1 | ENSG00000187231.14 | transcript | ENST00000428443.8 | protein_coding | 2/17 | chr2 | TogoVar | |||||||
SFMBT1_chr3_52898572_53051073 | 52928617 | TACATATA others(33): Show |
T | intron_variant | MODIFIER | NA18999.hp2 NA19011.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220 a0001c0001t0001g0253 |
2 | 323 | 0.0062 | -40 | c.898 others(55): Show |
SFMBT1 | ENSG00000163935.14 | transcript | ENST00000394752.8 | protein_coding | 8/20 | chr3 | TogoVar | |||||||
SFTPB_chr2_85652314_85673199 | 85666391 | CTGTGTGT others(33): Show |
C | intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 402 | 0.0025 | -40 | c.393 others(55): Show |
SFTPB | ENSG00000168878.19 | transcript | ENST00000519937.7 | protein_coding | 4/10 | chr2 | TogoVar | |||||||
SGCD_chr5_156322164_156772788 | 156444106 | CTCTCTCT others(33): Show |
C | intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0002 | a0001c0002t0056 | a0001c0002t0056g0096 | 1 | 148 | 0.0068 | -40 | c.193 others(59): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SGCD_chr5_156322164_156772788 | 156524094 | CTATATAT others(33): Show |
C | intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 8 | 0.1250 | -40 | c.294 others(59): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SGCE_chr7_94579980_94661133 | 94604806 | AATATATA others(33): Show |
A | intron_variant | MODIFIER | NA18943.hp2 NA18949.hp1 NA18984.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0179 a0001c0001t0001g0194 |
5 | 56 | 0.0893 | -40 | c.663 others(57): Show |
SGCE | ENSG00000127990.19 | transcript | ENST00000648936.2 | protein_coding | 5/10 | chr7 | TogoVar | |||||||
SGCZ_chr8_14079845_15243431 | 14885996 | TATATATA others(33): Show |
T | intron_variant | MODIFIER | HG03540.hp2 HG06807.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0085a0002c0002t0009 | a0001c0001t0085g0059 a0002c0002t0009g0001 |
2 | 102 | 0.0196 | -40 | c.40- others(59): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 1/7 | chr8 | TogoVar | |||||||
SGCZ_chr8_14079845_15243431 | 15028318 | GAAGTTGA others(33): Show |
G | intron_variant | MODIFIER | HG03209.hp2 HG03540.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0083a0002c0002t0009 | a0001c0001t0083g0057 a0002c0002t0009g0001 |
2 | 98 | 0.0204 | -40 | c.39+ others(59): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 1/7 | chr8 | TogoVar | |||||||
SGCZ_chr8_14079845_15243431 | 15028471 | GTCTAAGT others(33): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG02132.hp1 HG02135.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0022others(6): Show | a0001c0001t0001g0075 a0001c0001t0005g0090 a0001c0001t0022g0007 others(6): Show |
9 | 92 | 0.0978 | -40 | c.39+ others(59): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 1/7 | chr8 | TogoVar | |||||||
SGF29_chr16_28548920_28596790 | 28564538 | TGTATATA others(33): Show |
T | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0290 | 1 | 340 | 0.0029 | -40 | c.-16 others(59): Show |
SGF29 | ENSG00000176476.9 | transcript | ENST00000317058.8 | protein_coding | 1/9 | chr16 | TogoVar | |||||||
SGIP1_chr1_66529153_66756139 | 66589163 | CATATATA others(33): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00558.hp2 others(66): Show |
a0001 | a0001c0001a0001c0004a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0004 a0001c0001t0001g0033 a0001c0001t0001g0082 others(66): Show |
69 | 132 | 0.5227 | -40 | c.11- others(57): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SGMS1_chr10_50300600_50628956 | 50400396 | CATATATA others(33): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00544.hp1 others(59): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(4): Show | a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0001g0119 others(59): Show |
62 | 72 | 0.8611 | -40 | c.-23 others(61): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 6/10 | chr10 | TogoVar | |||||||
SGSM1_chr22_24801211_24932578 | 24900369 | TTCTTTCT others(33): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG01934.hp1 HG02886.hp2 others(10): Show |
a0001a0003 | a0001c0001a0001c0018a0003c0003others(5): Show | a0001c0001t0001a0001c0018t0001a0003c0003t0001others(8): Show | a0001c0001t0001g0140 a0001c0018t0001g0310 a0003c0003t0001g0306 others(10): Show |
13 | 336 | 0.0387 | -40 | c.261 others(59): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 19/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SH3BP5L_chr1_248805446_248830915 | 248829757 | TCTCTCCT others(33): Show |
T | upstream_gene_variant | MODIFIER | HG02886.hp2 HG02895.hp2 HG02897.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0019 | a0001c0001t0007g0018 a0001c0001t0007g0175 a0001c0001t0019g0176 |
6 | 410 | 0.0146 | -40 | c.-43 others(51): Show |
SH3BP5L | ENSG00000175137.11 | transcript | ENST00000366472.6 | protein_coding | 3843 | chr1 | TogoVar | |||||||
SH3D19_chr4_151115281_151330605 | 151214983 | CTCCCAGA others(33): Show |
C | intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 1 | 280 | 0.0036 | -40 | c.152 others(59): Show |
SH3D19 | ENSG00000109686.20 | transcript | ENST00000604030.7 | protein_coding | 2/19 | chr4 | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19554038 | AATATATA others(33): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01123.hp1 HG01167.hp1 others(19): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0001a0001c0001t0004a0005c0008t0001 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(19): Show |
22 | 169 | 0.1302 | -40 | c.138 others(59): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | TogoVar | |||||||
SH3PXD2A_chr10_103589027_103860576 | 103607261 | ACCGCCCC others(33): Show |
A | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0009 | a0001c0009t0039 | a0001c0009t0039g0113 | 1 | 248 | 0.0040 | -40 | c.130 others(59): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 13/14 | chr10 | TogoVar | |||||||
SH3PXD2A_chr10_103589027_103860576 | 103701998 | CCATCCAT others(33): Show |
C | intron_variant | MODIFIER | HG01358.hp2 HG01884.hp2 HG02109.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0044a0001c0001t0067a0001c0001t0109others(2): Show | a0001c0001t0044g0219 a0001c0001t0044g0244 a0001c0001t0067g0076 others(3): Show |
6 | 248 | 0.0242 | -40 | c.399 others(57): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 5/14 | chr10 | TogoVar | |||||||
SH3PXD2A_chr10_103589027_103860576 | 103795903 | AAAGGAAG others(33): Show |
A | intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0071 | 1 | 212 | 0.0047 | -40 | c.153 others(57): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 2/14 | chr10 | TogoVar | |||||||
SH3PXD2A_chr10_103589027_103860576 | 103810912 | ACACACAC others(33): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(88): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(61): Show | a0001c0001t0003g0119 a0001c0001t0003g0138 a0001c0001t0004g0052 others(88): Show |
91 | 248 | 0.3669 | -40 | c.73- others(55): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 1/14 | chr10 | TogoVar | |||||||
SH3PXD2B_chr5_172328499_172459525 | 172348671 | CTATCTAT others(33): Show |
C | intron_variant | MODIFIER | HG03942.hp2 HG04204.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 a0001c0001t0001g0126 |
2 | 265 | 0.0075 | -40 | c.101 others(59): Show |
SH3PXD2B | ENSG00000174705.13 | transcript | ENST00000311601.6 | protein_coding | 10/12 | chr5 | TogoVar | |||||||
SH3PXD2B_chr5_172328499_172459525 | 172439255 | AAAAAAAA others(33): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02615.hp2 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0028a0001c0001t0031a0001c0001t0067 | a0001c0001t0028g0040 a0001c0001t0031g0006 a0001c0001t0067g0210 |
3 | 273 | 0.0110 | -40 | c.75+ others(57): Show |
SH3PXD2B | ENSG00000174705.13 | transcript | ENST00000311601.6 | protein_coding | 1/12 | chr5 | TogoVar | |||||||
SH3RF2_chr5_145931578_146068292 | 146064656 | GAGAGAAA others(33): Show |
G | downstream_gene_variant | MODIFIER | HG00621.hp1 HG01256.hp2 HG01361.hp2 others(9): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0001 a0002c0002t0001g0025 a0002c0002t0001g0026 others(9): Show |
12 | 206 | 0.0583 | -40 | c.*19 others(51): Show |
SH3RF2 | ENSG00000156463.18 | transcript | ENST00000359120.9 | protein_coding | 1365 | chr5 | TogoVar | |||||||
SH3RF2_chr5_145931578_146068292 | 146064691 | AAAGAAAG others(33): Show |
A | downstream_gene_variant | MODIFIER | HG01255.hp1 HG02004.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 a0001c0001t0002g0111 |
2 | 267 | 0.0075 | -40 | c.*19 others(51): Show |
SH3RF2 | ENSG00000156463.18 | transcript | ENST00000359120.9 | protein_coding | 1400 | chr5 | TogoVar | |||||||
SH3RF2_chr5_145931578_146068292 | 146064695 | AAAGAAAG others(33): Show |
A | downstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 265 | 0.0038 | -40 | c.*19 others(51): Show |
SH3RF2 | ENSG00000156463.18 | transcript | ENST00000359120.9 | protein_coding | 1404 | chr5 | TogoVar | |||||||
SH3RF3_chr2_109124205_109509634 | 109170239 | TTTCTTTT others(33): Show |
T | intron_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0032 | 1 | 70 | 0.0143 | -40 | c.573 others(59): Show |
SH3RF3 | ENSG00000172985.11 | transcript | ENST00000309415.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SH3RF3_chr2_109124205_109509634 | 109299388 | CATCAGGG others(33): Show |
C | intron_variant | MODIFIER | HG02027.hp2 HG02165.hp1 HG03942.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0001c0019a0002c0013others(2): Show | a0001c0001t0011a0001c0019t0004a0002c0013t0033others(3): Show | a0001c0001t0011g0119 a0001c0019t0004g0059 a0002c0013t0033g0168 others(3): Show |
6 | 172 | 0.0349 | -40 | c.574 others(59): Show |
SH3RF3 | ENSG00000172985.11 | transcript | ENST00000309415.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SHANK1_chr19_50654255_50724802 | 50707876 | TTTTTCTT others(33): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00642.hp1 others(47): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0003a0001c0004others(12): Show | a0001c0002t0001a0001c0002t0006a0001c0002t0009others(33): Show | a0001c0002t0001g0093 a0001c0002t0001g0120 a0001c0002t0001g0178 others(46): Show |
50 | 85 | 0.5882 | -40 | c.107 others(59): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | TogoVar | |||||||
SHANK1_chr19_50654255_50724802 | 50710777 | GGCCTTTC others(33): Show |
G | intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0095 | 1 | 314 | 0.0032 | -40 | c.107 others(57): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | TogoVar | |||||||
SHCBP1L_chr1_182894865_182958166 | 182952179 | AAAAAAAA others(33): Show |
A | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 281 | 0.0036 | -40 | c.405 others(55): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
SHD_chr19_4274266_4295722 | 4286226 | CTTTCTTT others(33): Show |
C | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0280 | 1 | 374 | 0.0027 | -40 | c.716 others(57): Show |
SHD | ENSG00000105251.11 | transcript | ENST00000543264.7 | protein_coding | 4/5 | chr19 | TogoVar | |||||||
SHISA5_chr3_48462876_48509174 | 48468965 | AGGACACA others(33): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0150 | 1 | 288 | 0.0035 | -40 | c.*10 others(49): Show |
SHISA5 | ENSG00000164054.17 | transcript | ENST00000296444.7 | protein_coding | 6/6 | 102 | chr3 | TogoVar | ||||||
SHISA6_chr17_11236213_11569063 | 11526880 | CATATATA others(33): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00735.hp2 HG00738.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0011 | a0001c0001t0014a0001c0001t0021a0001c0002t0014others(2): Show | a0001c0001t0014g0013 a0001c0001t0014g0147 a0001c0001t0021g0132 others(3): Show |
6 | 11 | 0.5455 | -40 | c.896 others(59): Show |
SHISA6 | ENSG00000188803.15 | transcript | ENST00000441885.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 12943306 | TGTGTGTG others(33): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0024a0001c0001t0061 | a0001c0001t0024g0110 a0001c0001t0061g0073 |
2 | 209 | 0.0096 | -40 | c.691 others(59): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 12943310 | TGTGTGTG others(33): Show |
T | intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 140 | 0.0071 | -40 | c.691 others(59): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 12943314 | TGTGTGTG others(33): Show |
T | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0059 | a0001c0001t0059g0046 | 1 | 201 | 0.0050 | -40 | c.691 others(59): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 12970389 | GTATATAT others(33): Show |
G | intron_variant | MODIFIER | HG02257.hp1 HG02818.hp2 HG03225.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0097a0001c0002t0013 | a0001c0001t0006g0042 a0001c0001t0097g0105 a0001c0002t0013g0125 |
3 | 178 | 0.0169 | -40 | c.691 others(59): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 13019862 | CCCTCCCT others(33): Show |
C | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0185 | 1 | 211 | 0.0047 | -40 | c.691 others(61): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 13019866 | CCCTCCCT others(33): Show |
C | intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0072 | a0001c0001t0072g0165 | 1 | 209 | 0.0048 | -40 | c.691 others(61): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 13019870 | CCCTCCCT others(33): Show |
C | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0080 | a0001c0001t0080g0055 | 1 | 209 | 0.0048 | -40 | c.691 others(61): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 13019932 | TTTCTTTC others(33): Show |
T | intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 | 1 | 213 | 0.0047 | -40 | c.691 others(61): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISAL1_chr22_44238665_44317951 | 44302613 | TAGCAGGG others(33): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00438.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0001t0032a0001c0001t0064others(6): Show | a0001c0001t0008g0076 a0001c0001t0032g0060 a0001c0001t0064g0273 others(7): Show |
10 | 130 | 0.0769 | -40 | c.-32 others(57): Show |
SHISAL1 | ENSG00000138944.8 | transcript | ENST00000381176.5 | protein_coding | 1/4 | chr22 | TogoVar | |||||||
SHISAL1_chr22_44238665_44317951 | 44302883 | GGTGAGGA others(33): Show |
G | intron_variant | MODIFIER | HG00621.hp1 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0015 | a0001c0001t0002g0063 a0001c0001t0015g0311 |
2 | 377 | 0.0053 | -40 | c.-32 others(57): Show |
SHISAL1 | ENSG00000138944.8 | transcript | ENST00000381176.5 | protein_coding | 1/4 | chr22 | TogoVar | |||||||
SHISAL1_chr22_44238665_44317951 | 44302907 | GCCCTGGG others(33): Show |
G | intron_variant | MODIFIER | HG00738.hp1 HG02717.hp2 HG03453.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0032a0001c0002t0003a0001c0002t0054others(1): Show | a0001c0001t0032g0328 a0001c0002t0003g0321 a0001c0002t0054g0319 others(1): Show |
4 | 378 | 0.0106 | -40 | c.-32 others(57): Show |
SHISAL1 | ENSG00000138944.8 | transcript | ENST00000381176.5 | protein_coding | 1/4 | chr22 | TogoVar | |||||||
SHOX_chrX_625791_656584 | 655596 | CTCTCTCT others(33): Show |
C | downstream_gene_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0153 | a0001c0001t0153g0156 | 1 | 202 | 0.0050 | -40 | c.*10 others(53): Show |
SHOX | ENSG00000185960.15 | transcript | ENST00000686671.1 | protein_coding | 4013 | chrX | TogoVar | |||||||
SHQ1_chr3_72744277_72853445 | 72755242 | TGATGGAT others(33): Show |
T | intron_variant | MODIFIER | NA21309.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0209 | 1 | 218 | 0.0046 | -40 | c.118 others(59): Show |
SHQ1 | ENSG00000144736.14 | transcript | ENST00000325599.13 | protein_coding | 10/10 | chr3 | TogoVar |