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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RUNDC3B_chr7_87623398_87837296 | 87626348 | T | TATATATG others(592): Show |
upstream_gene_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 168 | 0.0060 | 599 | c.-24 others(610): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 2049 | chr7 | TogoVar | |||||||
SAMD11_chr1_918923_949574 | 934483 | C | CGGGGGAG others(592): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0270 | 1 | 423 | 0.0024 | 599 | c.843 others(616): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SAMD11_chr1_918923_949574 | 934825 | A | AGGCGGCT others(592): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0023 | a0001c0023t0001 | a0001c0023t0001g0146 | 1 | 384 | 0.0026 | 599 | c.843 others(614): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SART1_chr11_65956734_65985137 | 65971174 | C | CATGAGCT others(592): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0111 | 1 | 306 | 0.0033 | 599 | c.157 others(618): Show |
SART1 | ENSG00000175467.15 | transcript | ENST00000312397.10 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SEPTIN9_chr17_77276499_77505593 | 77356670 | C | CCCCCTCC others(592): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0111 | 1 | 40 | 0.0250 | 599 | c.77- others(616): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77314518_77505593 | 77356670 | C | CCCCCTCC others(592): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0101 | 1 | 45 | 0.0222 | 599 | c.22+ others(616): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SLC45A1_chr1_8313114_8349165 | 8322292 | A | ATGGGCGG others(592): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0040 | 1 | 327 | 0.0031 | 599 | c.-24 others(616): Show |
SLC45A1 | ENSG00000162426.16 | transcript | ENST00000471889.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC45A1_chr1_8313114_8349165 | 8322292 | A | ATGGGCGG others(592): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02257.hp2 NA18522.hp1 others(1): Show |
a0001 | a0001c0003a0001c0008 | a0001c0003t0001a0001c0008t0001 | a0001c0003t0001g0015 a0001c0008t0001g0041 |
4 | 330 | 0.0121 | 599 | c.-24 others(616): Show |
SLC45A1 | ENSG00000162426.16 | transcript | ENST00000471889.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLIT3_chr5_168656740_169306139 | 168726538 | G | GAGGGAGG others(592): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0010 | a0010c0023 | a0010c0023t0005 | a0010c0023t0005g0085 | 1 | 2 | 0.5000 | 599 | c.227 others(618): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 20/35 | chr5 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246325221 | G | GGGAAGGA others(592): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0091 | 1 | 142 | 0.0070 | 599 | c.531 others(616): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246325241 | C | CGGGGGGG others(592): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016 | 1 | 132 | 0.0076 | 599 | c.531 others(616): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SRXN1_chr20_641615_658200 | 642230 | T | TGGGGGGG others(592): Show |
downstream_gene_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0015 | 1 | 80 | 0.0125 | 599 | c.*64 others(610): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4384 | chr20 | TogoVar | |||||||
SRXN1_chr20_641615_658200 | 642261 | G | GGGGGGGG others(592): Show |
downstream_gene_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 362 | 0.0028 | 599 | c.*64 others(610): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4353 | chr20 | TogoVar | |||||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(592): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0306 | 1 | 3 | 0.3333 | 599 | c.597 others(616): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | |||||||
TECPR1_chr7_98209624_98257232 | 98242990 | C | CCACCCAC others(592): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0151 | 1 | 341 | 0.0029 | 599 | c.657 others(614): Show |
TECPR1 | ENSG00000205356.10 | transcript | ENST00000447648.7 | protein_coding | 6/25 | chr7 | TogoVar | |||||||
THEG_chr19_356747_381026 | 377008 | C | CCCCCACC others(592): Show |
upstream_gene_variant | MODIFIER | NA19078.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0264 | 1 | 326 | 0.0031 | 599 | c.-10 others(610): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 983 | chr19 | TogoVar | |||||||
TLL2_chr10_96359608_96518926 | 96415739 | G | GTCTCTCT others(592): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0003 | a0001c0003t0017 | a0001c0003t0017g0244 | 1 | 158 | 0.0063 | 599 | c.924 others(616): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 7/20 | chr10 | TogoVar | |||||||
TP53AIP1_chr11_128930370_128947871 | 128930712 | G | GGGGGTTA others(592): Show |
downstream_gene_variant | MODIFIER | HG02922.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0056 | 1 | 451 | 0.0022 | 599 | c.*48 others(610): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4657 | chr11 | TogoVar | |||||||
TP53AIP1_chr11_128930370_128947871 | 128930771 | C | CGGGGTTA others(592): Show |
downstream_gene_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 390 | 0.0026 | 599 | c.*48 others(610): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4598 | chr11 | TogoVar | |||||||
TRIM48_chr11_55257155_55276114 | 55273323 | T | TTATATAT others(592): Show |
downstream_gene_variant | MODIFIER | HG02809.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0015 | 1 | 144 | 0.0069 | 599 | c.*28 others(610): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2210 | chr11 | TogoVar | |||||||
TRIML1_chr4_188134441_188152743 | 188152094 | G | GTGAGAAG others(592): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 HG02723.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 2 | 201 | 0.0100 | 599 | c.*47 others(610): Show |
TRIML1 | ENSG00000184108.8 | transcript | ENST00000332517.4 | protein_coding | 4352 | chr4 | TogoVar | |||||||
TRIML1_chr4_188134441_188152743 | 188152097 | A | AGAAGGGG others(592): Show |
downstream_gene_variant | MODIFIER | HG01978.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0127 | 1 | 217 | 0.0046 | 599 | c.*47 others(610): Show |
TRIML1 | ENSG00000184108.8 | transcript | ENST00000332517.4 | protein_coding | 4355 | chr4 | TogoVar | |||||||
TRIML1_chr4_188134441_188152743 | 188152097 | A | AGAAGGGG others(592): Show |
downstream_gene_variant | MODIFIER | HG01175.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0126 | 1 | 217 | 0.0046 | 599 | c.*47 others(610): Show |
TRIML1 | ENSG00000184108.8 | transcript | ENST00000332517.4 | protein_coding | 4355 | chr4 | TogoVar | |||||||
TRIML1_chr4_188134441_188152743 | 188152097 | A | AGAAGGGG others(592): Show |
downstream_gene_variant | MODIFIER | HG01106.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 1 | 217 | 0.0046 | 599 | c.*47 others(610): Show |
TRIML1 | ENSG00000184108.8 | transcript | ENST00000332517.4 | protein_coding | 4355 | chr4 | TogoVar | |||||||
ULK1_chr12_131889622_131928150 | 131917219 | C | CGGGTTCG others(592): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0225 | 1 | 74 | 0.0135 | 599 | c.218 others(616): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
VAT1_chr17_43009607_43027385 | 43017098 | G | GAGGTTGC others(592): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0143 | 1 | 80 | 0.0125 | 599 | c.857 others(614): Show |
VAT1 | ENSG00000108828.16 | transcript | ENST00000355653.8 | protein_coding | 4/5 | chr17 | TogoVar | |||||||
VAT1_chr17_43009607_43027385 | 43017098 | G | GAGGTTGC others(592): Show |
intron_variant | MODIFIER | HG00735.hp2 HG00741.hp1 HG01081.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0002a0001c0002t0002a0001c0005t0002 | a0001c0001t0002g0027 a0001c0001t0002g0041 a0001c0001t0002g0116 others(13): Show |
24 | 103 | 0.2330 | 599 | c.857 others(614): Show |
VAT1 | ENSG00000108828.16 | transcript | ENST00000355653.8 | protein_coding | 4/5 | chr17 | TogoVar | |||||||
VAT1_chr17_43009607_43027385 | 43017098 | G | GAGGTTGC others(592): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02257.hp1 HG02451.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0030 a0001c0001t0002g0109 a0001c0001t0002g0115 others(4): Show |
9 | 88 | 0.1023 | 599 | c.857 others(614): Show |
VAT1 | ENSG00000108828.16 | transcript | ENST00000355653.8 | protein_coding | 4/5 | chr17 | TogoVar | |||||||
VAT1_chr17_43009607_43027385 | 43017098 | G | GAGGTTGC others(592): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(216): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(93): Show |
219 | 298 | 0.7349 | 599 | c.857 others(614): Show |
VAT1 | ENSG00000108828.16 | transcript | ENST00000355653.8 | protein_coding | 4/5 | chr17 | TogoVar | |||||||
VAT1_chr17_43009607_43027385 | 43017098 | G | GAGGTTGC others(592): Show |
intron_variant | MODIFIER | HG01243.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0119 a0001c0001t0004g0129 |
2 | 81 | 0.0247 | 599 | c.857 others(614): Show |
VAT1 | ENSG00000108828.16 | transcript | ENST00000355653.8 | protein_coding | 4/5 | chr17 | TogoVar | |||||||
VAT1_chr17_43009607_43027385 | 43017098 | G | GAGGTTGC others(592): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 80 | 0.0125 | 599 | c.857 others(614): Show |
VAT1 | ENSG00000108828.16 | transcript | ENST00000355653.8 | protein_coding | 4/5 | chr17 | TogoVar | |||||||
VCX2_chrX_8164944_8176267 | 8169727 | C | CCCTCCCT others(592): Show |
downstream_gene_variant | MODIFIER | HG03130.hp1 | a0009 | a0009c0009 | a0009c0009t0002 | a0009c0009t0002g0014 | 1 | 109 | 0.0092 | 599 | c.*30 others(608): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 216 | chrX | TogoVar | |||||||
VCX3B_chrX_8459830_8471510 | 8466683 | A | AGGGAGGG others(592): Show |
downstream_gene_variant | MODIFIER | NA18969.hp2 | a0034 | a0034c0040 | a0034c0040t0015 | a0034c0040t0015g0019 | 1 | 183 | 0.0055 | 599 | c.*30 others(608): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 174 | chrX | TogoVar | |||||||
VPS53_chr17_503668_719839 | 619617 | T | TGTACCAC others(592): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0104 | a0001c0001t0104g0212 | 1 | 184 | 0.0054 | 599 | c.111 others(618): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 11/21 | chr17 | TogoVar | |||||||
VPS53_chr17_503668_719839 | 619617 | T | TGTACCAC others(592): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01081.hp2 HG01175.hp2 others(25): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0002a0001c0001t0011a0001c0001t0017others(14): Show | a0001c0001t0002g0121 a0001c0001t0002g0128 a0001c0001t0002g0133 others(25): Show |
28 | 211 | 0.1327 | 599 | c.111 others(618): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 11/21 | chr17 | TogoVar | |||||||
ZBTB34_chr9_126855639_126890878 | 126876180 | T | TTCCCCCC others(592): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 236 | 0.0042 | 599 | c.-10 others(616): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ZBTB8A_chr1_32534427_32610941 | 32581182 | T | TTATATAT others(592): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 44 | 0.0227 | 599 | c.-1- others(616): Show |
ZBTB8A | ENSG00000160062.15 | transcript | ENST00000373510.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZNF365_chr10_62369369_62407450 | 62370882 | C | CATATATA others(592): Show |
upstream_gene_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0138 | 1 | 16 | 0.0625 | 599 | c.-35 others(610): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3486 | chr10 | TogoVar | |||||||
ZNF787_chr19_56082366_56126295 | 56105920 | C | CTCCGCGC others(592): Show |
intron_variant | MODIFIER | NA18987.hp2 | a0005 | a0005c0014 | a0005c0014t0083 | a0005c0014t0083g0264 | 1 | 408 | 0.0025 | 599 | c.-10 others(616): Show |
ZNF787 | ENSG00000142409.6 | transcript | ENST00000610935.2 | protein_coding | 1/2 | chr19 | TogoVar |