| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SAMD12_chr8_118372984_118626963 | 118605765 | AATATATA others(27): Show |
A | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 188 | 0.0053 | -34 | c.13+ others(51): Show |
SAMD12 | ENSG00000177570.15 | transcript | ENST00000314727.9 | protein_coding | 1/3 | chr8 | TogoVar | ||||||
| SAMD4A_chr14_54562128_54798312 | 54678433 | TTGTGTGT others(27): Show |
T | intron_variant | MODIFIER | HG00609.hp2 HG02055.hp1 HG02257.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(5): Show | a0001c0001t0002g0247a0001c0001t0004g0112a0001c0001t0007g0059others(5): Show | 8 | 262 | 0.0305 | -34 | c.197 others(53): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| SAMHD1_chr20_36885229_36956708 | 36932712 | CGGCAAGT others(27): Show |
C | intron_variant | MODIFIER | HG01106.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0089a0001c0001t0002g0335 | 2 | 340 | 0.0059 | -34 | c.510 others(51): Show |
SAMHD1 | ENSG00000101347.11 | transcript | ENST00000646673.2 | protein_coding | 4/15 | chr20 | TogoVar | ||||||
| SAMM50_chr22_43950442_44001529 | 43993373 | CGGCTTTT others(27): Show |
C | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0043 | 1 | 378 | 0.0027 | -34 | c.136 others(53): Show |
SAMM50 | ENSG00000100347.15 | transcript | ENST00000350028.5 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| SASH1_chr6_148337838_148557044 | 148387630 | TTCTTTCT others(27): Show |
T | intron_variant | MODIFIER | NA19082.hp2 | a0002 | a0002c0017 | a0002c0017t0003 | a0002c0017t0003g0239 | 1 | 322 | 0.0031 | -34 | c.157 others(51): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SASH1_chr6_148337838_148557044 | 148486936 | AATATATA others(27): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG00738.hp2 others(37): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(19): Show | a0001c0001t0001g0107a0001c0001t0001g0156a0001c0001t0001g0309others(37): Show | 40 | 322 | 0.1242 | -34 | c.628 others(49): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SBNO2_chr19_1102638_1179268 | 1148470 | CCCACCCT others(27): Show |
C | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0006 | a0001c0006t0006 | a0001c0006t0006g0131 | 1 | 203 | 0.0049 | -34 | c.167 others(49): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 3/31 | chr19 | TogoVar | ||||||
| SCAF8_chr6_154728416_154839221 | 154794778 | GGGGTGTG others(27): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(84): Show |
a0001a0004a0007 | a0001c0001a0001c0015a0004c0007others(1): Show | a0001c0001t0001a0001c0001t0008a0001c0015t0001others(2): Show | a0001c0001t0001g0064a0001c0001t0001g0066a0001c0001t0001g0067others(84): Show | 87 | 282 | 0.3085 | -34 | c.476 others(49): Show |
SCAF8 | ENSG00000213079.10 | transcript | ENST00000367178.8 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SCAMP1_chr5_78355617_78485739 | 78460793 | CTTCCTTC others(27): Show |
C | intron_variant | MODIFIER | HG02886.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0069a0001c0001t0002g0072 | 2 | 332 | 0.0060 | -34 | c.852 others(51): Show |
SCAMP1 | ENSG00000085365.18 | transcript | ENST00000621999.5 | protein_coding | 8/8 | chr5 | TogoVar | ||||||
| SCAMP2_chr15_74838730_74878365 | 74874647 | AAAAAAAA others(27): Show |
A | upstream_gene_variant | MODIFIER | HG01099.hp2 NA18978.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0005 | a0001c0001t0001g0185a0001c0003t0005g0155 | 2 | 386 | 0.0052 | -34 | c.-14 others(45): Show |
SCAMP2 | ENSG00000140497.16 | transcript | ENST00000268099.13 | protein_coding | 1283 | chr15 | TogoVar | ||||||
| SCAMP2_chr15_74838730_74878365 | 74874649 | AAAAAAAA others(27): Show |
A | upstream_gene_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 386 | 0.0026 | -34 | c.-14 others(45): Show |
SCAMP2 | ENSG00000140497.16 | transcript | ENST00000268099.13 | protein_coding | 1285 | chr15 | TogoVar | ||||||
| SCAMP5_chr15_74990563_75026495 | 74995517 | GGCGCGCG others(27): Show |
G | upstream_gene_variant | MODIFIER | HG00558.hp1 HG00597.hp1 HG00609.hp2 others(85): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0006others(4): Show | a0001c0001t0001g0061a0001c0002t0002g0007a0001c0002t0002g0008others(66): Show | 88 | 370 | 0.2378 | -34 | c.-20 others(43): Show |
SCAMP5 | ENSG00000198794.12 | transcript | ENST00000425597.8 | protein_coding | 45 | chr15 | TogoVar | ||||||
| SCAND1_chr20_35948624_35959502 | 35957843 | TATCCCTA others(27): Show |
T | upstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 374 | 0.0027 | -34 | c.-34 others(45): Show |
SCAND1 | ENSG00000171222.11 | transcript | ENST00000305978.7 | protein_coding | 3342 | chr20 | TogoVar | ||||||
| SCART1_chr10_133448945_133474760 | 133472330 | GGTTGTTG others(27): Show |
G | downstream_gene_variant | MODIFIER | HG01175.hp1 HG02129.hp2 HG03239.hp1 others(11): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0007a0003c0024others(3): Show | a0001c0001t0003a0003c0007t0003a0003c0024t0003others(3): Show | a0001c0001t0003g0001a0003c0007t0003g0111a0003c0024t0003g0102others(8): Show | 14 | 434 | 0.0323 | -34 | c.*43 others(45): Show |
SCART1 | ENSG00000214279.13 | transcript | ENST00000640237.2 | protein_coding | 2571 | chr10 | TogoVar | ||||||
| SCART1_chr10_133448945_133474760 | 133472342 | CGGCGTCT others(27): Show |
C | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02258.hp1 HG02615.hp2 others(15): Show |
a0003a0004a0009 | a0003c0007a0003c0009a0004c0005others(2): Show | a0003c0007t0003a0003c0009t0003a0004c0005t0003others(2): Show | a0003c0007t0003g0098a0003c0007t0003g0101a0003c0007t0003g0103others(11): Show | 18 | 434 | 0.0415 | -34 | c.*43 others(45): Show |
SCART1 | ENSG00000214279.13 | transcript | ENST00000640237.2 | protein_coding | 2583 | chr10 | TogoVar | ||||||
| SCART1_chr10_133448945_133474760 | 133472869 | AAGTGTGG others(27): Show |
A | downstream_gene_variant | MODIFIER | HG01192.hp1 HG01496.hp1 HG01928.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0012 | 6 | 434 | 0.0138 | -34 | c.*49 others(45): Show |
SCART1 | ENSG00000214279.13 | transcript | ENST00000640237.2 | protein_coding | 3110 | chr10 | TogoVar | ||||||
| SCART1_chr10_133448945_133474760 | 133472945 | CGTCTCCC others(27): Show |
C | downstream_gene_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 434 | 0.0023 | -34 | c.*49 others(45): Show |
SCART1 | ENSG00000214279.13 | transcript | ENST00000640237.2 | protein_coding | 3186 | chr10 | TogoVar | ||||||
| SCCPDH_chr1_246719409_246773137 | 246725231 | GTATTTAT others(27): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG00621.hp2 HG00673.hp2 others(78): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0054a0001c0001t0001g0056a0001c0001t0001g0257others(55): Show | 81 | 410 | 0.1976 | -34 | c.190 others(49): Show |
SCCPDH | ENSG00000143653.10 | transcript | ENST00000366510.4 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SCD5_chr4_82624539_82803796 | 82712243 | CATATATA others(27): Show |
C | intron_variant | MODIFIER | HG00673.hp1 HG03710.hp2 NA18949.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0040a0001c0001t0001g0055a0001c0001t0001g0118others(2): Show | 5 | 210 | 0.0238 | -34 | c.233 others(51): Show |
SCD5 | ENSG00000145284.12 | transcript | ENST00000319540.9 | protein_coding | 1/4 | chr4 | TogoVar | ||||||
| SCD5_chr4_82624539_82803796 | 82779166 | CCAACTAG others(27): Show |
C | intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0139 | 1 | 210 | 0.0048 | -34 | c.232 others(53): Show |
SCD5 | ENSG00000145284.12 | transcript | ENST00000319540.9 | protein_coding | 1/4 | chr4 | TogoVar | ||||||
| SCFD1_chr14_30617319_30740850 | 30703910 | CATATATA others(27): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG02027.hp2 HG02040.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0230a0002c0002t0001g0231a0002c0002t0001g0232 | 3 | 328 | 0.0092 | -34 | c.149 others(53): Show |
SCFD1 | ENSG00000092108.22 | transcript | ENST00000458591.7 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| SCFD1_chr14_30617319_30740850 | 30703930 | TATATATA others(27): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp1 HG02257.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(11): Show | 14 | 328 | 0.0427 | -34 | c.149 others(53): Show |
SCFD1 | ENSG00000092108.22 | transcript | ENST00000458591.7 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| SCFD2_chr4_52867982_53371061 | 52875802 | CTATATAT others(27): Show |
C | intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 162 | 0.0062 | -34 | c.196 others(53): Show |
SCFD2 | ENSG00000184178.17 | transcript | ENST00000401642.8 | protein_coding | 8/8 | chr4 | TogoVar | ||||||
| SCG3_chr15_51676503_51726026 | 51709687 | ATATATAT others(27): Show |
A | intron_variant | MODIFIER | HG04115.hp2 NA18747.hp1 NA18971.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0013 | a0001c0001t0006g0222a0001c0001t0006g0225a0001c0001t0006g0226others(3): Show | 6 | 402 | 0.0149 | -34 | c.120 others(53): Show |
SCG3 | ENSG00000104112.9 | transcript | ENST00000220478.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| SCG3_chr15_51676503_51726026 | 51709689 | ATATATAT others(27): Show |
A | intron_variant | MODIFIER | HG00597.hp2 NA19006.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0228a0001c0001t0002g0230 | 2 | 402 | 0.0050 | -34 | c.120 others(53): Show |
SCG3 | ENSG00000104112.9 | transcript | ENST00000220478.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| SCHIP1_chr3_159268244_159902359 | 159626196 | ATAGATAG others(27): Show |
A | intron_variant | MODIFIER | HG02451.hp1 HG02717.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035a0001c0001t0001g0073a0001c0001t0001g0075 | 3 | 100 | 0.0300 | -34 | c.64- others(53): Show |
SCHIP1 | ENSG00000283154.3 | transcript | ENST00000638749.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| SCHIP1_chr3_159268244_159902359 | 159626203 | GATAGATA others(27): Show |
G | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0017 | 1 | 100 | 0.0100 | -34 | c.64- others(53): Show |
SCHIP1 | ENSG00000283154.3 | transcript | ENST00000638749.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| SCLT1_chr4_128878993_129098539 | 128945220 | AAGAGACA others(27): Show |
A | intron_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 288 | 0.0035 | -34 | c.143 others(51): Show |
SCLT1 | ENSG00000151466.12 | transcript | ENST00000281142.10 | protein_coding | 16/20 | chr4 | TogoVar | ||||||
| SCML4_chr6_107697154_107829313 | 107778206 | AAAAAAAA others(27): Show |
A | intron_variant | MODIFIER | HG01346.hp1 HG01358.hp1 HG03486.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0008a0001c0002t0005 | a0001c0001t0002g0178a0001c0001t0002g0194a0001c0001t0008g0176others(3): Show | 6 | 250 | 0.0240 | -34 | c.-59 others(51): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
| SCML4_chr6_107697154_107829313 | 107778208 | AAAAAAAA others(27): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00544.hp2 others(49): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0002g0062a0001c0001t0002g0065a0001c0001t0002g0093others(49): Show | 52 | 250 | 0.2080 | -34 | c.-59 others(51): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
| SCML4_chr6_107697154_107829313 | 107778210 | AAAAAAAA others(27): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00621.hp2 HG01257.hp1 others(22): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(8): Show | a0001c0001t0002g0177a0001c0001t0002g0211a0001c0001t0002g0221others(22): Show | 25 | 250 | 0.1000 | -34 | c.-59 others(51): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
| SCML4_chr6_107697154_107829313 | 107813369 | ATTATATA others(27): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp2 HG03209.hp1 others(3): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0010a0001c0003t0012 | a0001c0002t0010g0134a0001c0003t0012g0130a0001c0003t0012g0131others(3): Show | 6 | 250 | 0.0240 | -34 | c.-60 others(53): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
| SCML4_chr6_107697154_107829313 | 107813391 | TATATATA others(27): Show |
T | intron_variant | MODIFIER | HG02630.hp2 HG03516.hp2 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0021 | a0001c0001t0001g0076a0001c0001t0006g0077a0001c0001t0021g0013 | 3 | 250 | 0.0120 | -34 | c.-60 others(53): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
| SCNN1D_chr1_1275436_1297025 | 1288275 | CCCCGAGT others(27): Show |
C | intron_variant | MODIFIER | HG02300.hp2 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0106 | 1 | 290 | 0.0035 | -34 | c.166 others(51): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SCNN1D_chr1_1275436_1297025 | 1289113 | CCGTGTCC others(27): Show |
C | intron_variant | MODIFIER | HG02074.hp1 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0149 | 1 | 290 | 0.0035 | -34 | c.166 others(53): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SCNN1D_chr1_1275436_1297025 | 1289518 | TGCTCCGT others(27): Show |
T | intron_variant | MODIFIER | HG01069.hp2 HG01975.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0201a0001c0001t0002g0221 | 2 | 290 | 0.0069 | -34 | c.166 others(51): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | chr1 | TogoVar | ||||||
| SCNN1D_chr1_1275436_1297025 | 1289527 | CCGTGTCC others(27): Show |
C | intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 290 | 0.0035 | -34 | c.166 others(51): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SCNN1D_chr1_1275436_1297025 | 1289599 | CCGTGTCT others(27): Show |
C | intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0169 | 1 | 290 | 0.0035 | -34 | c.166 others(51): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SCNN1D_chr1_1275436_1297025 | 1289975 | TGCTCCGT others(27): Show |
T | intron_variant | MODIFIER | HG00597.hp2 HG02896.hp2 |
a0003a0006 | a0003c0004a0006c0010 | a0003c0004t0003a0006c0010t0007 | a0003c0004t0003g0148a0006c0010t0007g0273 | 2 | 290 | 0.0069 | -34 | c.166 others(51): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | chr1 | TogoVar | ||||||
| SCNN1D_chr1_1275436_1297025 | 1290074 | CCGTGTCT others(27): Show |
C | intron_variant | MODIFIER | HG00544.hp1 NA18969.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0052a0002c0002t0001g0059 | 2 | 290 | 0.0069 | -34 | c.166 others(51): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SCT_chr11_621309_632181 | 628921 | CTTTCTTT others(27): Show |
C | upstream_gene_variant | MODIFIER | HG00738.hp2 HG02055.hp2 HG02129.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0003a0002c0004t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0003g0015others(1): Show | 7 | 411 | 0.0170 | -34 | c.-18 others(45): Show |
SCT | ENSG00000070031.4 | transcript | ENST00000176195.4 | protein_coding | 1741 | chr11 | TogoVar | ||||||
| SCT_chr11_621309_632181 | 628949 | CTTTCTTT others(27): Show |
C | upstream_gene_variant | MODIFIER | NA18943.hp1 NA18946.hp1 NA19002.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 411 | 0.0073 | -34 | c.-18 others(45): Show |
SCT | ENSG00000070031.4 | transcript | ENST00000176195.4 | protein_coding | 1769 | chr11 | TogoVar | ||||||
| SCUBE1_chr22_43192280_43348372 | 43205783 | ACACTCAC others(27): Show |
A | intron_variant | MODIFIER | HG02071.hp2 | a0003 | a0003c0001 | a0003c0001t0001 | a0003c0001t0001g0228 | 1 | 280 | 0.0036 | -34 | c.281 others(53): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 21/21 | chr22 | TogoVar | ||||||
| SDK1_chr7_3296252_4274000 | 3321761 | CCCTTCCT others(27): Show |
C | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0092 | a0001c0092t0048 | a0001c0092t0048g0057 | 1 | 116 | 0.0086 | -34 | c.298 others(53): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| SDK1_chr7_3296252_4274000 | 3403824 | CATATATA others(27): Show |
C | intron_variant | MODIFIER | HG00408.hp1 | a0005 | a0005c0003 | a0005c0003t0003 | a0005c0003t0003g0069 | 1 | 116 | 0.0086 | -34 | c.298 others(55): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| SDK1_chr7_3296252_4274000 | 4012549 | CTTTTTTT others(27): Show |
C | intron_variant | MODIFIER | HG03516.hp2 | a0035 | a0035c0018 | a0035c0018t0071 | a0035c0018t0071g0005 | 1 | 116 | 0.0086 | -34 | c.242 others(51): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 16/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| SDK1_chr7_3296252_4274000 | 4194222 | ACACGTAT others(27): Show |
A | intron_variant | MODIFIER | NA19030.hp2 | a0019 | a0019c0051 | a0019c0051t0062 | a0019c0051t0062g0019 | 1 | 116 | 0.0086 | -34 | c.509 others(55): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 35/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| SDK1_chr7_3296252_4274000 | 4194279 | GATATATG others(27): Show |
G | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0061 | a0001c0061t0031 | a0001c0061t0031g0100 | 1 | 116 | 0.0086 | -34 | c.509 others(55): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 35/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| SDK1_chr7_3296252_4274000 | 4194313 | CATATATG others(27): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG03516.hp2 |
a0001a0035 | a0001c0007a0035c0018 | a0001c0007t0021a0035c0018t0071 | a0001c0007t0021g0110a0035c0018t0071g0005 | 2 | 116 | 0.0172 | -34 | c.509 others(55): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 35/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| SEC14L3_chr22_30454229_30477017 | 30454880 | ATTATATA others(27): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(190): Show |
a0001a0003a0004 | a0001c0001a0001c0007a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0017others(69): Show | 193 | 454 | 0.4251 | -34 | c.*51 others(45): Show |
SEC14L3 | ENSG00000100012.12 | transcript | ENST00000215812.9 | protein_coding | 4348 | chr22 | TogoVar |