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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TRPV4_chr12_109778089_109838398 | 109784860 | C | CGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0029 | 1 | 84 | 0.0119 | 10 | c.233 others(27): Show |
TRPV4 | ENSG00000111199.12 | transcript | ENST00000261740.7 | protein_coding | 14/15 | chr12 | TogoVar | |||||||
TRPV4_chr12_109778089_109838398 | 109784876 | T | TGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0022 | a0001c0022t0003 | a0001c0022t0003g0038 | 1 | 342 | 0.0029 | 10 | c.233 others(27): Show |
TRPV4 | ENSG00000111199.12 | transcript | ENST00000261740.7 | protein_coding | 14/15 | chr12 | TogoVar | |||||||
TRPV4_chr12_109778089_109838398 | 109815458 | C | CATTTTAC others(3): Show |
intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0109 | 1 | 342 | 0.0029 | 10 | c.-31 others(25): Show |
TRPV4 | ENSG00000111199.12 | transcript | ENST00000261740.7 | protein_coding | 1/15 | chr12 | TogoVar | |||||||
TRPV4_chr12_109778089_109838398 | 109820513 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0205 | 1 | 337 | 0.0030 | 10 | c.-31 others(27): Show |
TRPV4 | ENSG00000111199.12 | transcript | ENST00000261740.7 | protein_coding | 1/15 | chr12 | TogoVar | |||||||
TRPV4_chr12_109778089_109838398 | 109820514 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00609.hp2 others(15): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0020others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0020t0001others(1): Show | a0001c0001t0001g0019 a0001c0001t0001g0108 a0001c0001t0001g0129 others(14): Show |
18 | 256 | 0.0703 | 10 | c.-31 others(27): Show |
TRPV4 | ENSG00000111199.12 | transcript | ENST00000261740.7 | protein_coding | 1/15 | chr12 | TogoVar | |||||||
TRPV4_chr12_109778089_109838398 | 109824756 | C | CAACAAAA others(3): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(112): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0004others(14): Show | a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0019 others(102): Show |
115 | 342 | 0.3363 | 10 | c.-32 others(27): Show |
TRPV4 | ENSG00000111199.12 | transcript | ENST00000261740.7 | protein_coding | 1/15 | chr12 | TogoVar | |||||||
TRPV4_chr12_109778089_109838398 | 109824760 | A | AAAACAAA others(3): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00558.hp2 others(159): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(18): Show | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0100 others(141): Show |
162 | 341 | 0.4751 | 10 | c.-32 others(27): Show |
TRPV4 | ENSG00000111199.12 | transcript | ENST00000261740.7 | protein_coding | 1/15 | chr12 | TogoVar | |||||||
TRPV6_chr7_142866208_142890745 | 142866628 | C | CCGCAGTA others(3): Show |
downstream_gene_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0019 | a0001c0019t0001 | a0001c0019t0001g0076 | 1 | 264 | 0.0038 | 10 | c.*50 others(21): Show |
TRPV6 | ENSG00000165125.22 | transcript | ENST00000359396.9 | protein_coding | 4579 | WARNING_TRANSCRIPT_NO_START_CODON | chr7 | TogoVar | ||||||
TRPV6_chr7_142866208_142890745 | 142890440 | A | ACACACAC others(3): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(168): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 others(47): Show |
171 | 195 | 0.8769 | 10 | c.-48 others(21): Show |
TRPV6 | ENSG00000165125.22 | transcript | ENST00000359396.9 | protein_coding | 4696 | WARNING_TRANSCRIPT_NO_START_CODON | chr7 | TogoVar | ||||||
TRRAP_chr7_98873532_99018241 | 98951059 | C | CTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01167.hp2 HG01169.hp1 others(21): Show |
a0001a0009 | a0001c0001a0001c0022a0001c0024others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0022t0001others(3): Show | a0001c0001t0001g0013 a0001c0001t0001g0031 a0001c0001t0001g0032 others(21): Show |
24 | 86 | 0.2791 | 10 | c.546 others(25): Show |
TRRAP | ENSG00000196367.15 | transcript | ENST00000456197.2 | protein_coding | 39/72 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TRRAP_chr7_98873532_99018241 | 98997483 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG00438.hp2 NA19009.hp1 NA19080.hp1 |
a0001a0003a0013 | a0001c0001a0003c0037a0013c0035 | a0001c0001t0002a0003c0037t0002a0013c0035t0002 | a0001c0001t0002g0221 a0003c0037t0002g0242 a0013c0035t0002g0224 |
3 | 64 | 0.0469 | 10 | c.103 others(31): Show |
TRRAP | ENSG00000196367.15 | transcript | ENST00000456197.2 | protein_coding | 67/72 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TRRAP_chr7_98873532_99018241 | 99017881 | C | CTTTTTTT others(3): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00738.hp2 others(38): Show |
a0001a0003a0011others(1): Show | a0001c0001a0001c0003a0001c0013others(8): Show | a0001c0001t0002a0001c0003t0002a0001c0013t0002others(8): Show | a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0211 others(37): Show |
41 | 125 | 0.3280 | 10 | c.*55 others(21): Show |
TRRAP | ENSG00000196367.15 | transcript | ENST00000456197.2 | protein_coding | 4641 | chr7 | TogoVar | |||||||
TRUB1_chr10_114933195_114982676 | 114943526 | T | TCAAAACA others(3): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02717.hp1 HG02809.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 others(5): Show |
9 | 211 | 0.0427 | 10 | c.385 others(25): Show |
TRUB1 | ENSG00000165832.6 | transcript | ENST00000298746.5 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
TRUB1_chr10_114933195_114982676 | 114980578 | A | ATTTTTTT others(3): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 HG02895.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0017 a0001c0001t0006g0040 |
2 | 102 | 0.0196 | 10 | c.*51 others(21): Show |
TRUB1 | ENSG00000165832.6 | transcript | ENST00000298746.5 | protein_coding | 2903 | chr10 | TogoVar | |||||||
TRUB1_chr10_114933195_114982676 | 114982533 | C | CTTTTTTT others(3): Show |
downstream_gene_variant | MODIFIER | HG01123.hp1 HG02109.hp1 HG02280.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0001c0001t0006a0001c0001t0009others(1): Show | a0001c0001t0005g0045 a0001c0001t0005g0046 a0001c0001t0006g0040 others(3): Show |
8 | 95 | 0.0842 | 10 | c.*71 others(21): Show |
TRUB1 | ENSG00000165832.6 | transcript | ENST00000298746.5 | protein_coding | 4858 | chr10 | TogoVar | |||||||
TSBP1_chr6_32287698_32376903 | 32308597 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0136 | 1 | 199 | 0.0050 | 10 | c.575 others(27): Show |
TSBP1 | ENSG00000204296.13 | transcript | ENST00000533191.6 | protein_coding | 22/25 | chr6 | TogoVar | |||||||
TSBP1_chr6_32287698_32376903 | 32330635 | A | AACACACA others(3): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02896.hp2 |
a0005 | a0005c0005 | a0005c0005t0004 | a0005c0005t0004g0267 a0005c0005t0004g0272 |
2 | 129 | 0.0155 | 10 | c.446 others(23): Show |
TSBP1 | ENSG00000204296.13 | transcript | ENST00000533191.6 | protein_coding | 16/25 | chr6 | TogoVar | |||||||
TSBP1_chr6_32287698_32376903 | 32367052 | C | CGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00642.hp2 others(63): Show |
a0003a0004a0007others(1): Show | a0003c0003a0004c0004a0007c0007others(1): Show | a0003c0003t0001a0003c0003t0003a0004c0004t0001others(3): Show | a0003c0003t0001g0002 a0003c0003t0001g0005 a0003c0003t0001g0006 others(46): Show |
66 | 200 | 0.3300 | 10 | c.167 others(25): Show |
TSBP1 | ENSG00000204296.13 | transcript | ENST00000533191.6 | protein_coding | 4/25 | chr6 | TogoVar | |||||||
TSBP1_chr6_32287698_32376903 | 32367243 | A | AAGAGAGA others(3): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02132.hp2 HG02145.hp1 others(11): Show |
a0002a0006 | a0002c0002a0006c0006 | a0002c0002t0003a0002c0002t0009a0006c0006t0001others(1): Show | a0002c0002t0003g0320 a0002c0002t0009g0030 a0002c0002t0009g0033 others(11): Show |
14 | 63 | 0.2222 | 10 | c.166 others(25): Show |
TSBP1 | ENSG00000204296.13 | transcript | ENST00000533191.6 | protein_coding | 4/25 | chr6 | TogoVar | |||||||
TSBP1_chr6_32287698_32376903 | 32369373 | A | ATTTTTTT others(3): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0009 | a0009c0009 | a0009c0009t0003 | a0009c0009t0003g0323 | 1 | 32 | 0.0313 | 10 | c.100 others(25): Show |
TSBP1 | ENSG00000204296.13 | transcript | ENST00000533191.6 | protein_coding | 2/25 | chr6 | TogoVar | |||||||
TSBP1_chr6_32287698_32376903 | 32370405 | C | CTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01168.hp2 HG01256.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0005g0300 others(2): Show |
5 | 371 | 0.0135 | 10 | c.14- others(23): Show |
TSBP1 | ENSG00000204296.13 | transcript | ENST00000533191.6 | protein_coding | 1/25 | chr6 | TogoVar | |||||||
TSBP1_chr6_32287698_32376903 | 32370407 | G | GTGTATAT others(3): Show |
intron_variant | MODIFIER | NA18988.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0132 | 1 | 92 | 0.0109 | 10 | c.14- others(23): Show |
TSBP1 | ENSG00000204296.13 | transcript | ENST00000533191.6 | protein_coding | 1/25 | chr6 | TogoVar | |||||||
TSBP1_chr6_32287698_32376903 | 32370407 | G | GTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG00408.hp2 NA18964.hp2 NA18974.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 others(2): Show |
5 | 96 | 0.0521 | 10 | c.14- others(23): Show |
TSBP1 | ENSG00000204296.13 | transcript | ENST00000533191.6 | protein_coding | 1/25 | chr6 | TogoVar | |||||||
TSBP1_chr6_32287698_32376903 | 32374240 | C | CTGTGTGT others(3): Show |
upstream_gene_variant | MODIFIER | HG03834.hp2 NA18983.hp1 NA20752.hp2 others(1): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0006 | a0001c0001t0005a0002c0002t0001a0002c0002t0003others(1): Show | a0001c0001t0005g0315 a0002c0002t0001g0129 a0002c0002t0003g0312 others(1): Show |
4 | 35 | 0.1143 | 10 | c.-25 others(21): Show |
TSBP1 | ENSG00000204296.13 | transcript | ENST00000533191.6 | protein_coding | 2338 | chr6 | TogoVar | |||||||
TSC1_chr9_132886349_132949616 | 132908901 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG02486.hp1 NA18522.hp2 |
a0002 | a0002c0009 | a0002c0009t0093a0002c0009t0100 | a0002c0009t0093g0303 a0002c0009t0100g0304 |
2 | 281 | 0.0071 | 10 | c.126 others(29): Show |
TSC1 | ENSG00000165699.15 | transcript | ENST00000298552.9 | protein_coding | 12/22 | chr9 | TogoVar | |||||||
TSC22D1_chr13_44427143_44581330 | 44494375 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0006 | a0001c0006t0006 | a0001c0006t0006g0003 | 1 | 25 | 0.0400 | 10 | c.291 others(31): Show |
TSC22D1 | ENSG00000102804.16 | transcript | ENST00000458659.3 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
TSC22D1_chr13_44427143_44581330 | 44501562 | C | CCCAGAGG others(3): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02615.hp1 HG02615.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0030 a0001c0001t0001g0041 a0001c0001t0001g0042 others(11): Show |
14 | 238 | 0.0588 | 10 | c.291 others(31): Show |
TSC22D1 | ENSG00000102804.16 | transcript | ENST00000458659.3 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
TSC22D1_chr13_44427143_44581330 | 44517829 | G | GTATATAT others(3): Show |
intron_variant | MODIFIER | HG02683.hp2 HG03486.hp2 NA19010.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0019 | a0001c0001t0001g0041 a0001c0001t0001g0084 a0001c0001t0002g0144 others(1): Show |
4 | 160 | 0.0250 | 10 | c.291 others(31): Show |
TSC22D1 | ENSG00000102804.16 | transcript | ENST00000458659.3 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
TSC22D1_chr13_44427143_44581330 | 44517829 | G | GTGTATAT others(3): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0181 | 1 | 157 | 0.0064 | 10 | c.291 others(31): Show |
TSC22D1 | ENSG00000102804.16 | transcript | ENST00000458659.3 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
TSC22D1_chr13_44427143_44581330 | 44517855 | A | ATTTTTTT others(3): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 234 | 0.0043 | 10 | c.291 others(31): Show |
TSC22D1 | ENSG00000102804.16 | transcript | ENST00000458659.3 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
TSC22D1_chr13_44427143_44581330 | 44517857 | A | ATATATAT others(3): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0133 | 1 | 94 | 0.0106 | 10 | c.291 others(31): Show |
TSC22D1 | ENSG00000102804.16 | transcript | ENST00000458659.3 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
TSC22D1_chr13_44427143_44581330 | 44517857 | A | ATATATTT others(3): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0085 | 1 | 94 | 0.0106 | 10 | c.291 others(31): Show |
TSC22D1 | ENSG00000102804.16 | transcript | ENST00000458659.3 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
TSC22D1_chr13_44427143_44581330 | 44517857 | A | ATTTTTTT others(3): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 94 | 0.0106 | 10 | c.291 others(31): Show |
TSC22D1 | ENSG00000102804.16 | transcript | ENST00000458659.3 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
TSC22D1_chr13_44427143_44581330 | 44546749 | C | CGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 2 | 0.5000 | 10 | c.291 others(31): Show |
TSC22D1 | ENSG00000102804.16 | transcript | ENST00000458659.3 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
TSC22D1_chr13_44427143_44581330 | 44551310 | G | GGGGTGTG others(3): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0005 | a0001c0005t0009 | a0001c0005t0009g0237 | 1 | 112 | 0.0089 | 10 | c.291 others(31): Show |
TSC22D1 | ENSG00000102804.16 | transcript | ENST00000458659.3 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
TSC22D1_chr13_44427143_44581330 | 44551310 | G | GGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02976.hp1 HG03471.hp2 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0008a0001c0001t0012a0001c0005t0004 | a0001c0001t0008g0233 a0001c0001t0012g0185 a0001c0005t0004g0238 others(1): Show |
4 | 115 | 0.0348 | 10 | c.291 others(31): Show |
TSC22D1 | ENSG00000102804.16 | transcript | ENST00000458659.3 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
TSC22D2_chr3_150403298_150471422 | 150431224 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0006 | a0001c0006t0023 | a0001c0006t0023g0146 | 1 | 239 | 0.0042 | 10 | c.195 others(31): Show |
TSC22D2 | ENSG00000196428.13 | transcript | ENST00000688009.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TSC22D3_chrX_107708221_107780787 | 107734878 | T | TAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02622.hp2 HG03195.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 a0001c0001t0001g0042 a0001c0001t0001g0048 others(2): Show |
5 | 63 | 0.0794 | 10 | c.321 others(29): Show |
TSC22D3 | ENSG00000157514.18 | transcript | ENST00000372383.9 | protein_coding | 1/2 | chrX | TogoVar | |||||||
TSC22D3_chrX_107708221_107780787 | 107742281 | A | AAGAGAGA others(3): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 100 | 0.0100 | 10 | c.321 others(29): Show |
TSC22D3 | ENSG00000157514.18 | transcript | ENST00000372383.9 | protein_coding | 1/2 | chrX | TogoVar | |||||||
TSC22D3_chrX_107708221_107780787 | 107769715 | T | TCACACAC others(3): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 147 | 0.0068 | 10 | c.320 others(27): Show |
TSC22D3 | ENSG00000157514.18 | transcript | ENST00000372383.9 | protein_coding | 1/2 | chrX | TogoVar | |||||||
TSC22D4_chr7_100461519_100484214 | 100478350 | A | AGAGAGAG others(3): Show |
intron_variant | MODIFIER | HG00673.hp2 HG03834.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0009 |
2 | 90 | 0.0222 | 10 | c.-26 others(25): Show |
TSC22D4 | ENSG00000166925.9 | transcript | ENST00000300181.7 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
TSC22D4_chr7_100461519_100484214 | 100478350 | A | AGAGAGAG others(3): Show |
intron_variant | MODIFIER | HG03195.hp2 NA18990.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 90 | 0.0222 | 10 | c.-26 others(25): Show |
TSC22D4 | ENSG00000166925.9 | transcript | ENST00000300181.7 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
TSC22D4_chr7_100461519_100484214 | 100478350 | A | AGAGAGTG others(3): Show |
intron_variant | MODIFIER | HG00438.hp2 NA19030.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0001 a0001c0002t0002g0056 |
2 | 90 | 0.0222 | 10 | c.-26 others(25): Show |
TSC22D4 | ENSG00000166925.9 | transcript | ENST00000300181.7 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
TSC22D4_chr7_100461519_100484214 | 100478350 | A | AGAGTGTG others(3): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01975.hp1 HG01975.hp2 others(8): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0014 | a0001c0001t0001a0001c0002t0002a0005c0014t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(3): Show |
11 | 99 | 0.1111 | 10 | c.-26 others(25): Show |
TSC22D4 | ENSG00000166925.9 | transcript | ENST00000300181.7 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
TSC2_chr16_2042985_2094491 | 2075525 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG02965.hp2 HG03139.hp2 HG03453.hp2 |
a0007a0019 | a0007c0013a0019c0028 | a0007c0013t0010a0019c0028t0010 | a0007c0013t0010g0136 a0007c0013t0010g0138 a0019c0028t0010g0137 |
3 | 239 | 0.0126 | 10 | c.254 others(27): Show |
TSC2 | ENSG00000103197.19 | transcript | ENST00000219476.9 | protein_coding | 22/41 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TSC2_chr16_2042985_2094491 | 2088881 | G | GCGCACAC others(3): Show |
3_prime_UTR_variant | MODIFIER | HG02280.hp1 | a0003 | a0003c0006 | a0003c0006t0036 | a0003c0006t0036g0014 | 1 | 198 | 0.0051 | 10 | c.*27 others(19): Show |
TSC2 | ENSG00000103197.19 | transcript | ENST00000219476.9 | protein_coding | 42/42 | 273 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TSEN15_chr1_184046730_184079212 | 184065183 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG02486.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0135 a0001c0001t0010g0136 |
2 | 328 | 0.0061 | 10 | c.354 others(27): Show |
TSEN15 | ENSG00000198860.14 | transcript | ENST00000645668.2 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TSEN2_chr3_12479480_12538658 | 12481923 | G | GTATATAT others(3): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0007 | a0001c0007t0004 | a0001c0007t0004g0047 | 1 | 236 | 0.0042 | 10 | c.-29 others(21): Show |
TSEN2 | ENSG00000154743.19 | transcript | ENST00000284995.11 | protein_coding | 2556 | chr3 | TogoVar | |||||||
TSEN2_chr3_12479480_12538658 | 12481926 | T | TGTGTGTC others(3): Show |
upstream_gene_variant | MODIFIER | NA18981.hp1 NA19007.hp1 |
a0003 | a0003c0002 | a0003c0002t0003 | a0003c0002t0003g0214 a0003c0002t0003g0215 |
2 | 235 | 0.0085 | 10 | c.-29 others(21): Show |
TSEN2 | ENSG00000154743.19 | transcript | ENST00000284995.11 | protein_coding | 2553 | chr3 | TogoVar | |||||||
TSEN2_chr3_12479480_12538658 | 12516442 | A | ATGTGTGT others(3): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0155 | 1 | 227 | 0.0044 | 10 | c.910 others(25): Show |
TSEN2 | ENSG00000154743.19 | transcript | ENST00000284995.11 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |