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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
THBS2_chr6_169210785_169258846 | 169242600 | A | ATTCCCAC others(692): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0006 | a0006c0053 | a0006c0053t0001 | a0006c0053t0001g0312 | 1 | 181 | 0.0055 | 699 | c.695 others(714): Show |
THBS2 | ENSG00000186340.17 | transcript | ENST00000617924.6 | protein_coding | 4/21 | chr6 | TogoVar | |||||||
THBS2_chr6_169210785_169258846 | 169242634 | A | ACTCCCAC others(692): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01255.hp1 HG02258.hp2 others(7): Show |
a0001a0007 | a0001c0003a0001c0004a0001c0008others(3): Show | a0001c0003t0002a0001c0004t0003a0001c0008t0008others(3): Show | a0001c0003t0002g0246 a0001c0003t0002g0252 a0001c0003t0002g0275 others(7): Show |
10 | 310 | 0.0323 | 699 | c.695 others(714): Show |
THBS2 | ENSG00000186340.17 | transcript | ENST00000617924.6 | protein_coding | 4/21 | chr6 | TogoVar | |||||||
TMPRSS9_chr19_2355265_2431261 | 2377639 | C | CTCTCCCC others(692): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0006 | a0006c0008 | a0006c0008t0003 | a0006c0008t0003g0015 | 1 | 10 | 0.1000 | 699 | c.-25 others(718): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238909034 | A | ATTTGTGG others(692): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0326 | 1 | 10 | 0.1000 | 699 | c.*36 others(714): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238909034 | A | ATTTGTGG others(692): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02886.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0322 a0001c0001t0002g0308 a0001c0001t0003g0008 |
3 | 12 | 0.2500 | 699 | c.*36 others(714): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238909034 | A | ATTTGTGG others(692): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01346.hp2 HG01884.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0035 others(18): Show |
21 | 30 | 0.7000 | 699 | c.*36 others(714): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238909042 | T | TTGTGGTA others(692): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02647.hp1 HG02965.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 a0001c0001t0001g0318 a0001c0001t0001g0319 others(1): Show |
4 | 116 | 0.0345 | 699 | c.*36 others(714): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VPS53_chr17_503668_719839 | 619617 | T | TGTACCAC others(692): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0105 | a0001c0001t0105g0148 | 1 | 184 | 0.0054 | 699 | c.111 others(718): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 11/21 | chr17 | TogoVar | |||||||
VPS53_chr17_503668_719839 | 619678 | A | ACCCCGCT others(692): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0094 | 1 | 180 | 0.0056 | 699 | c.111 others(718): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 11/21 | chr17 | TogoVar | |||||||
ZBTB34_chr9_126855639_126890878 | 126876197 | T | TCCCCCTT others(692): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 100 | 0.0100 | 699 | c.-10 others(716): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar | |||||||
ZNF365_chr10_62369369_62407450 | 62370953 | G | GTGATATA others(692): Show |
upstream_gene_variant | MODIFIER | HG02451.hp1 HG02717.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0110 a0001c0001t0005g0114 |
2 | 326 | 0.0061 | 699 | c.-35 others(710): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3415 | chr10 | TogoVar | |||||||
ZNF627_chr19_11592483_11624161 | 11613145 | C | CCCTCCCC others(692): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 9 | 0.1111 | 699 | c.4-1 others(712): Show |
ZNF627 | ENSG00000198551.10 | transcript | ENST00000361113.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ZZEF1_chr17_3999445_4148030 | 4018979 | T | TCTGGACT others(692): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0014 | a0014c0040 | a0014c0040t0031 | a0014c0040t0031g0292 | 1 | 289 | 0.0035 | 699 | c.750 others(716): Show |
ZZEF1 | ENSG00000074755.15 | transcript | ENST00000381638.7 | protein_coding | 46/54 | chr17 | TogoVar |