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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SCGB1C2_chr17_132569_144067 | 141154 | G | GGGGACCT others(18): Show |
downstream_gene_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020 | 1 | 210 | 0.0048 | 25 | c.*22 others(36): Show |
SCGB1C2 | ENSG00000268320.4 | transcript | ENST00000595228.4 | protein_coding | 2088 | chr17 | TogoVar | |||||||
SCGB3A2_chr5_147873711_147887191 | 147881791 | G | GGAAGTTT others(18): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0020 | 1 | 422 | 0.0024 | 25 | c.258 others(40): Show |
SCGB3A2 | ENSG00000164265.9 | transcript | ENST00000296694.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SCIN_chr7_12565720_12665182 | 12578909 | G | GTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02970.hp1 HG03139.hp2 others(1): Show |
a0002a0005 | a0002c0003a0002c0014a0005c0007 | a0002c0003t0017a0002c0003t0143a0002c0014t0006others(1): Show | a0002c0003t0017g0231 a0002c0003t0143g0232 a0002c0014t0006g0060 others(1): Show |
4 | 169 | 0.0237 | 25 | c.354 others(40): Show |
SCIN | ENSG00000006747.15 | transcript | ENST00000297029.10 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SCIN_chr7_12565720_12665182 | 12657572 | A | ATATATAT others(18): Show |
3_prime_UTR_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0071 | a0001c0001t0071g0022 | 1 | 182 | 0.0055 | 25 | c.*48 others(36): Show |
SCIN | ENSG00000006747.15 | transcript | ENST00000297029.10 | protein_coding | 16/16 | 4859 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SCLT1_chr4_128878993_129098539 | 128975040 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01346.hp2 HG03834.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 a0001c0001t0001g0209 a0001c0001t0001g0214 others(2): Show |
5 | 82 | 0.0610 | 25 | c.687 others(42): Show |
SCLT1 | ENSG00000151466.12 | transcript | ENST00000281142.10 | protein_coding | 9/20 | chr4 | TogoVar | |||||||
SCML4_chr6_107697154_107829313 | 107778222 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0002 | a0002c0007 | a0002c0007t0007 | a0002c0007t0007g0022 | 1 | 174 | 0.0057 | 25 | c.-59 others(42): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
SCML4_chr6_107697154_107829313 | 107778222 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02965.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0088 a0001c0002t0001g0153 |
2 | 175 | 0.0114 | 25 | c.-59 others(42): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
SCML4_chr6_107697154_107829313 | 107778222 | A | AAAAAAAT others(18): Show |
intron_variant | MODIFIER | HG01346.hp2 NA18747.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0004a0002c0004t0003 | a0001c0001t0004g0030 a0002c0004t0003g0020 |
2 | 175 | 0.0114 | 25 | c.-59 others(42): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
SCN10A_chr3_38691807_38821217 | 38736963 | G | GTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0033 | a0001c0033t0001 | a0001c0033t0001g0362 | 1 | 127 | 0.0079 | 25 | c.228 others(44): Show |
SCN10A | ENSG00000185313.9 | transcript | ENST00000449082.3 | protein_coding | 15/27 | chr3 | TogoVar | |||||||
SCN10A_chr3_38691807_38821217 | 38816373 | C | CGTTTATG others(18): Show |
upstream_gene_variant | MODIFIER | NA19011.hp2 | a0032 | a0032c0042 | a0032c0042t0001 | a0032c0042t0001g0149 | 1 | 370 | 0.0027 | 25 | c.-37 others(34): Show |
SCN10A | ENSG00000185313.9 | transcript | ENST00000449082.3 | protein_coding | 157 | chr3 | TogoVar | |||||||
SCN2A_chr2_165234414_165397304 | 165291491 | T | TTTCTTTC others(18): Show |
intron_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0253 | 1 | 207 | 0.0048 | 25 | c.-51 others(42): Show |
SCN2A | ENSG00000136531.19 | transcript | ENST00000375437.7 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SCN5A_chr3_38543062_38654687 | 38548175 | T | TCCCTCCT others(18): Show |
3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(334): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0002a0001c0003others(74): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(100): Show | a0001c0001t0002g0007 a0001c0001t0002g0021 a0001c0001t0002g0025 others(326): Show |
337 | 338 | 0.9970 | 25 | c.*21 others(36): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 28/28 | 2145 | chr3 | TogoVar | ||||||
SCN8A_chr12_51586233_51817864 | 51639493 | T | TAGCCTCG others(18): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02257.hp2 others(3): Show |
a0001 | a0001c0003a0001c0006a0001c0007others(2): Show | a0001c0003t0009a0001c0003t0015a0001c0006t0001others(3): Show | a0001c0003t0009g0114 a0001c0003t0015g0115 a0001c0006t0001g0103 others(3): Show |
6 | 200 | 0.0300 | 25 | c.-54 others(44): Show |
SCN8A | ENSG00000196876.19 | transcript | ENST00000354534.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SCN8A_chr12_51586233_51817864 | 51677056 | G | GTTTTATT others(18): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0057 | 1 | 73 | 0.0137 | 25 | c.277 others(42): Show |
SCN8A | ENSG00000196876.19 | transcript | ENST00000354534.11 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SCN8A_chr12_51586233_51817864 | 51721095 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0108 | 1 | 198 | 0.0051 | 25 | c.163 others(42): Show |
SCN8A | ENSG00000196876.19 | transcript | ENST00000354534.11 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1289847 | G | GTCTCTGC others(18): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 227 | 0.0044 | 25 | c.166 others(42): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1289848 | T | TCTCTGCC others(18): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0035 | 1 | 239 | 0.0042 | 25 | c.166 others(42): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCP2_chr1_52922276_53056698 | 53037905 | C | CACACAGA others(18): Show |
intron_variant | MODIFIER | HG02647.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010 a0001c0001t0002g0011 |
2 | 270 | 0.0074 | 25 | c.133 others(44): Show |
SCP2 | ENSG00000116171.19 | transcript | ENST00000371514.8 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCRN1_chr7_29915109_29994801 | 29932651 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0002 | a0002c0002 | a0002c0002t0035 | a0002c0002t0035g0232 | 1 | 158 | 0.0063 | 25 | c.905 others(42): Show |
SCRN1 | ENSG00000136193.17 | transcript | ENST00000242059.10 | protein_coding | 6/7 | chr7 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43280421 | T | TGTCCCTT others(18): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02486.hp2 HG02723.hp1 others(9): Show |
a0001a0002a0005others(1): Show | a0001c0012a0001c0020a0001c0021others(4): Show | a0001c0012t0090a0001c0020t0004a0001c0020t0017others(8): Show | a0001c0012t0090g0277 a0001c0020t0004g0025 a0001c0020t0017g0014 others(9): Show |
12 | 247 | 0.0486 | 25 | c.484 others(44): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 4/21 | chr22 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43280444 | C | CCTGTCCC others(18): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02572.hp2 HG02630.hp2 others(8): Show |
a0001a0002a0007others(1): Show | a0001c0004a0001c0008a0001c0010others(6): Show | a0001c0004t0016a0001c0008t0030a0001c0010t0068others(8): Show | a0001c0004t0016g0015 a0001c0008t0030g0010 a0001c0010t0068g0070 others(8): Show |
11 | 269 | 0.0409 | 25 | c.484 others(44): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 4/21 | chr22 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43280542 | C | CCTGTCCC others(18): Show |
intron_variant | MODIFIER | HG00408.hp2 NA18954.hp1 NA19002.hp2 others(1): Show |
a0002a0003 | a0002c0002a0003c0001a0003c0007 | a0002c0002t0001a0002c0002t0055a0003c0001t0001others(1): Show | a0002c0002t0001g0203 a0002c0002t0055g0170 a0003c0001t0001g0157 others(1): Show |
4 | 89 | 0.0449 | 25 | c.484 others(44): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 4/21 | chr22 | TogoVar | |||||||
SCUBE2_chr11_9014476_9096599 | 9054725 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0310 | 1 | 121 | 0.0083 | 25 | c.120 others(42): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 10/22 | chr11 | TogoVar | |||||||
SCUBE2_chr11_9014476_9096599 | 9054725 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG00621.hp2 NA18943.hp2 NA18980.hp2 others(2): Show |
a0001a0002a0004 | a0001c0002a0002c0001a0004c0004 | a0001c0002t0001a0002c0001t0004a0004c0004t0007 | a0001c0002t0001g0082 a0001c0002t0001g0094 a0002c0001t0004g0228 others(2): Show |
5 | 125 | 0.0400 | 25 | c.120 others(42): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 10/22 | chr11 | TogoVar | |||||||
SCUBE2_chr11_9014476_9096599 | 9054725 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01099.hp1 NA19084.hp2 |
a0002 | a0002c0001 | a0002c0001t0004 | a0002c0001t0004g0229 a0002c0001t0004g0337 a0002c0001t0004g0338 |
3 | 123 | 0.0244 | 25 | c.120 others(42): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 10/22 | chr11 | TogoVar | |||||||
SCUBE2_chr11_9014476_9096599 | 9057540 | A | ATGGAGTC others(18): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0003 | a0003c0029 | a0003c0029t0001 | a0003c0029t0001g0187 | 1 | 356 | 0.0028 | 25 | c.109 others(44): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 9/22 | chr11 | TogoVar | |||||||
SCYGR1_chr2_227382683_227392949 | 227389878 | T | TTTTTCTT others(18): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 HG01099.hp1 HG01891.hp1 others(5): Show |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0000 | 8 | 244 | 0.0328 | 25 | c.-19 others(36): Show |
SCYGR1 | ENSG00000284629.1 | transcript | ENST00000641359.1 | protein_coding | 1930 | chr2 | TogoVar | |||||||
SCYGR8_chr2_227740894_227751220 | 227741967 | T | TATAAAAT others(18): Show |
upstream_gene_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 156 | 0.0064 | 25 | c.-39 others(36): Show |
SCYGR8 | ENSG00000284635.2 | transcript | ENST00000641981.2 | protein_coding | 3926 | chr2 | TogoVar | |||||||
SCYGR8_chr2_227740894_227751220 | 227750651 | C | CAATAAAA others(18): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00639.hp2 others(35): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0002c0002others(4): Show | a0001c0001t0001a0001c0005t0001a0002c0002t0001others(4): Show | a0001c0001t0001g0000 a0001c0005t0001g0000 a0002c0002t0001g0000 others(4): Show |
38 | 85 | 0.4471 | 25 | c.*44 others(36): Show |
SCYGR8 | ENSG00000284635.2 | transcript | ENST00000641981.2 | protein_coding | 4432 | chr2 | TogoVar | |||||||
SCYGR8_chr2_227740894_227751220 | 227750651 | C | CAATAAAA others(18): Show |
downstream_gene_variant | MODIFIER | HG02965.hp2 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0000 | 1 | 48 | 0.0208 | 25 | c.*44 others(36): Show |
SCYGR8 | ENSG00000284635.2 | transcript | ENST00000641981.2 | protein_coding | 4432 | chr2 | TogoVar | |||||||
SCYL1_chr11_65520083_65543704 | 65524847 | G | GCCCCGCC others(18): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp2 others(72): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0009 | a0001c0001t0001a0001c0003t0001a0004c0009t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(21): Show |
75 | 240 | 0.3125 | 25 | c.-30 others(34): Show |
SCYL1 | ENSG00000142186.18 | transcript | ENST00000270176.10 | protein_coding | 235 | chr11 | TogoVar | |||||||
SCYL3_chr1_169844631_169898896 | 169851045 | C | CTTTTTTT others(18): Show |
3_prime_UTR_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0246 | 1 | 126 | 0.0079 | 25 | c.*26 others(36): Show |
SCYL3 | ENSG00000000457.14 | transcript | ENST00000367771.11 | protein_coding | 13/13 | 2667 | chr1 | TogoVar | ||||||
SDC2_chr8_96488813_96616790 | 96565084 | A | ATTTTTTT others(18): Show |
intron_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0326 | 1 | 74 | 0.0135 | 25 | c.61- others(42): Show |
SDC2 | ENSG00000169439.12 | transcript | ENST00000302190.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SDCCAG8_chr1_243251041_243505091 | 243294526 | A | AGAGAGAG others(18): Show |
intron_variant | MODIFIER | HG03704.hp2 HG06807.hp1 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0002a0002c0003t0002 | a0001c0002t0002g0028 a0002c0003t0002g0121 |
2 | 188 | 0.0106 | 25 | c.675 others(42): Show |
SDCCAG8 | ENSG00000054282.16 | transcript | ENST00000366541.8 | protein_coding | 6/17 | chr1 | TogoVar | |||||||
SDF2_chr17_28643346_28666906 | 28663828 | A | ATTTTTTT others(18): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG03486.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0110 a0001c0001t0002g0003 a0001c0001t0002g0004 |
3 | 5 | 0.6000 | 25 | c.-19 others(36): Show |
SDF2 | ENSG00000132581.10 | transcript | ENST00000247020.9 | protein_coding | 1923 | chr17 | TogoVar | |||||||
SDHAF2_chr11_61425124_61451733 | 61434591 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0111 | 1 | 172 | 0.0058 | 25 | c.37- others(40): Show |
SDHAF2 | ENSG00000167985.7 | transcript | ENST00000301761.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SDHAF3_chr7_97112698_97186763 | 97183901 | C | CTTTTTTT others(18): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 HG00735.hp2 HG02280.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0262 others(6): Show |
9 | 44 | 0.2045 | 25 | c.*26 others(36): Show |
SDHAF3 | ENSG00000196636.8 | transcript | ENST00000432641.3 | protein_coding | 2139 | chr7 | TogoVar | |||||||
SDHAF4_chr6_70561930_70594569 | 70565183 | C | CTTTTTTT others(18): Show |
upstream_gene_variant | MODIFIER | HG02559.hp1 | a0002 | a0002c0002 | a0002c0002t0026 | a0002c0002t0026g0254 | 1 | 181 | 0.0055 | 25 | c.-17 others(36): Show |
SDHAF4 | ENSG00000154079.6 | transcript | ENST00000370474.4 | protein_coding | 1746 | chr6 | TogoVar | |||||||
SDHC_chr1_161309381_161368206 | 161309552 | A | ATATATAT others(18): Show |
upstream_gene_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227 | 1 | 62 | 0.0161 | 25 | c.-48 others(36): Show |
SDHC | ENSG00000143252.16 | transcript | ENST00000367975.7 | protein_coding | 4828 | chr1 | TogoVar | |||||||
SDHC_chr1_161309381_161368206 | 161339662 | G | GTTTTTTT others(18): Show |
intron_variant | MODIFIER | NA18956.hp2 NA18961.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 a0001c0001t0001g0090 |
2 | 57 | 0.0351 | 25 | c.180 others(40): Show |
SDHC | ENSG00000143252.16 | transcript | ENST00000367975.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3319878 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01361.hp1 |
a0006a0017 | a0006c0077a0017c0035 | a0006c0077t0003a0017c0035t0005 | a0006c0077t0003g0099 a0017c0035t0005g0058 |
2 | 33 | 0.0606 | 25 | c.298 others(44): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3938645 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0014 | a0001c0014t0018 | a0001c0014t0018g0062 | 1 | 74 | 0.0135 | 25 | c.848 others(44): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 5/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4180404 | G | GGCTCCAG others(18): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02145.hp2 HG02258.hp2 others(9): Show |
a0001a0009a0019others(4): Show | a0001c0007a0001c0017a0001c0049others(8): Show | a0001c0007t0021a0001c0017t0011a0001c0049t0036others(8): Show | a0001c0007t0021g0110 a0001c0017t0011g0051 a0001c0017t0011g0052 others(9): Show |
12 | 56 | 0.2143 | 25 | c.509 others(44): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 35/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK2_chr17_73329384_73649445 | 73355175 | T | TATATATA others(18): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0004 | a0001c0004t0010 | a0001c0004t0010g0021 | 1 | 190 | 0.0053 | 25 | c.559 others(44): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 40/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73509902 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG01099.hp1 others(16): Show |
a0001a0002a0003others(3): Show | a0001c0003a0001c0007a0001c0008others(11): Show | a0001c0003t0002a0001c0003t0090a0001c0007t0002others(16): Show | a0001c0003t0002g0076 a0001c0003t0090g0134 a0001c0007t0002g0044 others(16): Show |
19 | 68 | 0.2794 | 25 | c.65- others(40): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 1/44 | chr17 | TogoVar | |||||||
SDSL_chr12_113417380_113443276 | 113441078 | T | TCCTTTCC others(18): Show |
downstream_gene_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 296 | 0.0034 | 25 | c.*29 others(36): Show |
SDSL | ENSG00000139410.15 | transcript | ENST00000403593.9 | protein_coding | 2803 | chr12 | TogoVar | |||||||
SEC14L1_chr17_77135969_77222101 | 77163391 | T | TTTTTCTC others(18): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(418): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(63): Show | a0001c0001t0001g0007 a0001c0001t0001g0021 a0001c0001t0001g0023 others(401): Show |
421 | 428 | 0.9836 | 25 | c.63+ others(42): Show |
SEC14L1 | ENSG00000129657.16 | transcript | ENST00000436233.9 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEC14L3_chr22_30454229_30477017 | 30454473 | C | CTATATAA others(18): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG00642.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0018 | 2 | 437 | 0.0046 | 25 | c.*55 others(36): Show |
SEC14L3 | ENSG00000100012.12 | transcript | ENST00000215812.9 | protein_coding | 4755 | chr22 | TogoVar | |||||||
SEC16B_chr1_177923788_177975058 | 177947755 | A | AAGGGACA others(18): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(294): Show |
a0001a0002a0003others(26): Show | a0001c0004a0001c0005a0001c0006others(54): Show | a0001c0004t0001a0001c0005t0001a0001c0005t0002others(67): Show | a0001c0004t0001g0012 a0001c0004t0001g0060 a0001c0004t0001g0072 others(225): Show |
297 | 386 | 0.7694 | 25 | c.166 others(40): Show |
SEC16B | ENSG00000120341.19 | transcript | ENST00000308284.11 | protein_coding | 13/25 | chr1 | TogoVar | |||||||
SEC22A_chr3_123196943_123279136 | 123220882 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0332 | 1 | 338 | 0.0030 | 25 | c.183 others(42): Show |
SEC22A | ENSG00000121542.12 | transcript | ENST00000492595.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |