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(2014): Show |
upstream_gene_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0052 | 1 | 71 | 0.0141 | 2021 | c.-39 others(2032): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 3644 | chr17 | TogoVar | |||||||
UCKL1_chr20_63934829_63961416 | 63948630 | G | GAGGGGTG others(2014): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 | 1 | 146 | 0.0068 | 2021 | c.114 others(2038): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
WDR81_chr17_1719704_1743585 | 1739135 | A | AGCCTGAT others(2014): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0016 | a0001c0016t0003 | a0001c0016t0003g0013 | 1 | 303 | 0.0033 | 2021 | c.*14 others(2032): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 551 | chr17 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33827171 | A | ACCACAAC others(2015): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0028 | a0001c0028t0001 | a0001c0028t0001g0189 | 1 | 125 | 0.0080 | 2022 | c.489 others(2041): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33827171 | A | ACCACAAC others(2015): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0002 | a0002c0040 | a0002c0040t0003 | a0002c0040t0003g0137 | 1 | 125 | 0.0080 | 2022 | c.489 others(2041): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33827171 | A | ACCACAAC others(2015): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01361.hp2 HG01891.hp1 others(18): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0003a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0005others(8): Show | a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 others(18): Show |
21 | 145 | 0.1448 | 2022 | c.489 others(2041): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | |||||||
CSF2RA_chrX_1263814_1314935 | 1274576 | C | CGGCCTCC others(2015): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 22 | 0.0455 | 2022 | c.-90 others(2037): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1274576 | C | CGGCCTCC others(2015): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0114 | 1 | 22 | 0.0455 | 2022 | c.-90 others(2037): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1274576 | C | CGGCCTCC others(2015): Show |
intron_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0013 | 1 | 22 | 0.0455 | 2022 | c.-90 others(2037): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1274576 | C | CGGCCTCC others(2015): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0062 | 1 | 22 | 0.0455 | 2022 | c.-90 others(2037): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123911541 | C | CTGTCCTG others(2015): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0019 | a0019c0020 | a0019c0020t0001 | a0019c0020t0001g0016 | 1 | 127 | 0.0079 | 2022 | c.101 others(2041): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167997382 | G | GGGGCGAC others(2015): Show |
upstream_gene_variant | MODIFIER | HG02809.hp1 | a0013 | a0013c0020 | a0013c0020t0001 | a0013c0020t0001g0241 | 1 | 361 | 0.0028 | 2022 | c.-20 others(2033): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 288 | chr6 | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1186007 | G | GGTCAGCG others(2016): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0002 | a0002c0135 | a0002c0135t0040 | a0002c0135t0040g0282 | 1 | 328 | 0.0030 | 2023 | c.300 others(2040): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2016): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 2 | 0.5000 | 2023 | c.44- others(2036): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2016): Show |
intron_variant | MODIFIER | NA19066.hp2 NA19079.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 2 | 3 | 0.6667 | 2023 | c.44- others(2036): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2016): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00738.hp2 HG01943.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 5 | 6 | 0.8333 | 2023 | c.44- others(2036): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2016): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01975.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 2 | 3 | 0.6667 | 2023 | c.44- others(2036): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1274576 | C | CGGCCTCC others(2016): Show |
intron_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0115 | 1 | 22 | 0.0455 | 2023 | c.-90 others(2038): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1274576 | C | CGGCCTCC others(2016): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 22 | 0.0455 | 2023 | c.-90 others(2038): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1274576 | C | CGGCCTCC others(2016): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0117 | 1 | 22 | 0.0455 | 2023 | c.-90 others(2038): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1274576 | C | CGGCCTCC others(2016): Show |
intron_variant | MODIFIER | HG00140.hp1 HG03239.hp1 HG03710.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0118 a0001c0001t0003g0119 a0001c0001t0003g0134 |
3 | 24 | 0.1250 | 2023 | c.-90 others(2038): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1274576 | C | CGGCCTCC others(2016): Show |
intron_variant | MODIFIER | HG01169.hp2 HG04184.hp1 NA18966.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0003 | a0001c0001t0001g0014 a0001c0001t0003g0060 a0001c0002t0003g0120 |
3 | 24 | 0.1250 | 2023 | c.-90 others(2038): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DCDC2C_chr2_3698575_3853008 | 3725636 | A | ATGGCCAG others(2016): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0277 | 1 | 254 | 0.0039 | 2023 | c.340 others(2040): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DCLK2_chr4_150073445_150262438 | 150251268 | C | CCACATCC others(2016): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 89 | 0.0112 | 2023 | c.207 others(2042): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
INPP5A_chr10_132532787_132788480 | 132775188 | G | GGGGCAGG others(2016): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0093 | 1 | 13 | 0.0769 | 2023 | c.978 others(2040): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 494645 | G | GGGGGACG others(2016): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 HG01099.hp1 |
a0001 | a0001c0001 | a0001c0001t0033a0001c0001t0093 | a0001c0001t0033g0280 a0001c0001t0093g0281 |
2 | 225 | 0.0089 | 2023 | c.*39 others(2034): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2612 | chr7 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATACATA others(2016): Show |
upstream_gene_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004 | 1 | 8 | 0.1250 | 2023 | c.-20 others(2034): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1739135 | A | AGCCTGAT others(2016): Show |
upstream_gene_variant | MODIFIER | HG01069.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 307 | 0.0033 | 2023 | c.-37 others(2034): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 3735 | chr17 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1740324 | A | AGCCGGAC others(2016): Show |
upstream_gene_variant | MODIFIER | NA18977.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0006 | 1 | 222 | 0.0045 | 2023 | c.-25 others(2034): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 2546 | chr17 | TogoVar | |||||||
WDR81_chr17_1719704_1743585 | 1739135 | A | AGCCTGAT others(2016): Show |
downstream_gene_variant | MODIFIER | HG01069.hp2 | a0003 | a0003c0011 | a0003c0011t0003 | a0003c0011t0003g0002 | 1 | 303 | 0.0033 | 2023 | c.*14 others(2034): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 551 | chr17 | TogoVar | |||||||
ADGRE2_chr19_14727392_14783560 | 14763752 | T | TCTCCTCT others(2017): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0016 | a0016c0024 | a0016c0024t0052 | a0016c0024t0052g0187 | 1 | 194 | 0.0052 | 2024 | c.108 others(2041): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2017): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 2 | 0.5000 | 2024 | c.44- others(2037): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1274576 | C | CGGCCTCC others(2017): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 22 | 0.0455 | 2024 | c.-90 others(2039): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1274576 | C | CGGCCTCC others(2017): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0030 | 1 | 22 | 0.0455 | 2024 | c.-90 others(2039): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1274576 | C | CGGCCTCC others(2017): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0109 | 1 | 22 | 0.0455 | 2024 | c.-90 others(2039): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1274576 | C | CGGCCTCC others(2017): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0063 | 1 | 22 | 0.0455 | 2024 | c.-90 others(2039): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1274576 | C | CGGCCTCC others(2017): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0051 | 1 | 22 | 0.0455 | 2024 | c.-90 others(2039): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1274576 | C | CGGCCTCC others(2017): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 22 | 0.0455 | 2024 | c.-90 others(2039): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1274576 | C | CGGCCTCC others(2017): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0015 | 1 | 22 | 0.0455 | 2024 | c.-90 others(2039): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DPP6_chr7_154047398_154899285 | 154063618 | A | ACGAGGCA others(2017): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0010 | a0001c0010t0010 | a0001c0010t0010g0009 | 1 | 14 | 0.0714 | 2024 | c.243 others(2043): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
H2AC15_chr6_27832880_27843375 | 27838482 | T | TGAAAAAC others(2017): Show |
upstream_gene_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 406 | 0.0025 | 2024 | c.-14 others(2033): Show |
H2AC15 | ENSG00000275221.2 | transcript | ENST00000618958.2 | protein_coding | 108 | chr6 | TogoVar | |||||||
H2BC15_chr6_27833569_27844110 | 27838482 | T | TGAAAAAC others(2017): Show |
upstream_gene_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 414 | 0.0024 | 2024 | c.-18 others(2033): Show |
H2BC15 | ENSG00000233822.6 | transcript | ENST00000612898.2 | protein_coding | 86 | chr6 | TogoVar | |||||||
NOC4L_chr12_132139457_132157468 | 132149564 | C | CGCCGCCT others(2017): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 275 | 0.0036 | 2024 | c.901 others(2039): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132150395 | C | CGCCGCCT others(2017): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 266 | 0.0038 | 2024 | c.902 others(2039): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132150756 | G | GCTCACAC others(2017): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 265 | 0.0038 | 2024 | c.902 others(2039): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 494645 | G | GGGGGACG others(2017): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227 | 1 | 224 | 0.0045 | 2024 | c.*39 others(2035): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2612 | chr7 | TogoVar | |||||||
PHRF1_chr11_571470_617222 | 585257 | C | CCTTTCCA others(2017): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0038 | 1 | 259 | 0.0039 | 2024 | c.215 others(2041): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
POLE_chr12_132618762_132692342 | 132684770 | G | GTATCACA others(2017): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0195 | 1 | 290 | 0.0034 | 2024 | c.62+ others(2039): Show |
POLE | ENSG00000177084.19 | transcript | ENST00000320574.10 | protein_coding | 1/48 | chr12 | TogoVar | |||||||
PXMP2_chr12_132682587_132709985 | 132684770 | G | GTATCACA others(2017): Show |
upstream_gene_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0064 | 1 | 348 | 0.0029 | 2024 | c.-29 others(2035): Show |
PXMP2 | ENSG00000176894.10 | transcript | ENST00000317479.8 | protein_coding | 2816 | chr12 | TogoVar | |||||||
SKAP2_chr7_26662068_26869590 | 26755286 | T | TAAGACTT others(2017): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02647.hp1 HG02809.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 others(2): Show |
5 | 277 | 0.0181 | 2024 | c.308 others(2043): Show |
SKAP2 | ENSG00000005020.13 | transcript | ENST00000345317.7 | protein_coding | 4/12 | chr7 | TogoVar |