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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RPH3AL_chr17_207389_357807 | 356450 | G | GTCTTCAC others(692): Show |
upstream_gene_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0031 | 1 | 133 | 0.0075 | 699 | c.-39 others(710): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 3644 | chr17 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13934382 | A | ATATATTC others(692): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 324 | 0.0031 | 699 | c.115 others(716): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SNX9_chr6_157818246_157950077 | 157827466 | C | CATATATT others(692): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 302 | 0.0033 | 699 | c.12+ others(714): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | chr6 | TogoVar | |||||||
SNX9_chr6_157818246_157950077 | 157827466 | C | CATATATT others(692): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 302 | 0.0033 | 699 | c.12+ others(714): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | chr6 | TogoVar | |||||||
SNX9_chr6_157818246_157950077 | 157827466 | C | CATATATT others(692): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 302 | 0.0033 | 699 | c.12+ others(714): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | chr6 | TogoVar | |||||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(692): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0309 | 1 | 322 | 0.0031 | 699 | c.597 others(716): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | |||||||
SUFU_chr10_102498972_102638535 | 102637656 | G | GATTATAA others(692): Show |
downstream_gene_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0189 | 1 | 268 | 0.0037 | 699 | c.*75 others(710): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 4122 | chr10 | TogoVar | |||||||
THBS2_chr6_169210785_169258846 | 169242600 | A | ATTCCCAC others(692): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0006 | a0006c0061 | a0006c0061t0001 | a0006c0061t0001g0314 | 1 | 396 | 0.0025 | 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 | 396 | 0.0253 | 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 | 114 | 0.0088 | 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 | 338 | 0.0030 | 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 | a0001c0001t0001a0001c0001t0003a0001c0001t0005 | a0001c0001t0001g0322 a0001c0001t0003g0308 a0001c0001t0005g0008 |
3 | 338 | 0.0089 | 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 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0035 others(18): Show |
21 | 338 | 0.0621 | 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 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0184 a0001c0001t0001g0319 a0001c0001t0001g0321 others(1): Show |
4 | 338 | 0.0118 | 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 | a0001c0001t0108 | a0001c0001t0108g0148 | 1 | 232 | 0.0043 | 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 | 232 | 0.0043 | 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 | a0001c0001t0001g0216 | 1 | 246 | 0.0041 | 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 | 350 | 0.0057 | 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 | a0001c0001t0001g0152 | 1 | 322 | 0.0031 | 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 | a0014c0040t0031g0293 | 1 | 296 | 0.0034 | 699 | c.750 others(716): Show |
ZZEF1 | ENSG00000074755.15 | transcript | ENST00000381638.7 | protein_coding | 46/54 | chr17 | TogoVar |