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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HGF_chr7_81694010_81775047 | 81697231 | T | TATATATA others(15): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 HG03041.hp1 |
a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0103 a0001c0002t0010g0252 |
2 | 272 | 0.0074 | 22 | c.*53 others(33): Show |
HGF | ENSG00000019991.18 | transcript | ENST00000222390.11 | protein_coding | 1778 | chr7 | TogoVar | |||||||
HGF_chr7_81694010_81775047 | 81722845 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0135 | 1 | 272 | 0.0037 | 22 | c.116 others(41): Show |
HGF | ENSG00000019991.18 | transcript | ENST00000222390.11 | protein_coding | 9/17 | chr7 | TogoVar | |||||||
HGSNAT_chr8_43135464_43207855 | 43181094 | A | AGAGGGAG others(15): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0063 | 1 | 234 | 0.0043 | 22 | c.101 others(41): Show |
HGSNAT | ENSG00000165102.15 | transcript | ENST00000379644.9 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
HGSNAT_chr8_43135464_43207855 | 43181100 | A | AGAGGGAG others(15): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01496.hp2 HG02165.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0141 a0001c0001t0001g0201 a0001c0001t0011g0087 |
3 | 234 | 0.0128 | 22 | c.101 others(41): Show |
HGSNAT | ENSG00000165102.15 | transcript | ENST00000379644.9 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
HGSNAT_chr8_43135464_43207855 | 43181106 | A | AGAGGGAG others(15): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01106.hp2 HG01175.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0083 a0001c0001t0001g0104 a0001c0001t0001g0112 others(3): Show |
6 | 234 | 0.0256 | 22 | c.101 others(41): Show |
HGSNAT | ENSG00000165102.15 | transcript | ENST00000379644.9 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
HGSNAT_chr8_43135464_43207855 | 43181112 | A | AGAGGGAG others(15): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01934.hp2 HG02040.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0041 a0001c0001t0001g0099 a0001c0001t0001g0140 others(1): Show |
4 | 234 | 0.0171 | 22 | c.101 others(41): Show |
HGSNAT | ENSG00000165102.15 | transcript | ENST00000379644.9 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
HGSNAT_chr8_43135464_43207855 | 43181118 | A | AGAGGGAG others(15): Show |
intron_variant | MODIFIER | HG02572.hp1 NA18988.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0039 a0001c0001t0002g0071 |
2 | 234 | 0.0086 | 22 | c.101 others(41): Show |
HGSNAT | ENSG00000165102.15 | transcript | ENST00000379644.9 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
HGSNAT_chr8_43135464_43207855 | 43181136 | A | AGAGGGAG others(15): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 234 | 0.0043 | 22 | c.101 others(40): Show |
HGSNAT | ENSG00000165102.15 | transcript | ENST00000379644.9 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210326958 | T | TATATATA others(15): Show |
upstream_gene_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 | 1 | 268 | 0.0037 | 22 | c.-21 others(33): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 1943 | chr1 | TogoVar | |||||||
HHAT_chr1_210323902_210681290 | 210326958 | T | TATATATA others(15): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 HG03704.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004 | a0001c0001t0002g0168 a0001c0001t0003g0172 a0001c0001t0004g0163 |
3 | 268 | 0.0112 | 22 | c.-21 others(33): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 1943 | chr1 | TogoVar | |||||||
HHAT_chr1_210323902_210681290 | 210326958 | T | TATATATA others(15): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0183 a0001c0001t0002g0205 |
2 | 268 | 0.0075 | 22 | c.-21 others(33): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 1943 | chr1 | TogoVar | |||||||
HHAT_chr1_210323902_210681290 | 210334178 | A | ATTTTTTT others(15): Show |
intron_variant | MODIFIER | HG01891.hp1 HG01978.hp1 HG01978.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0002t0001a0002c0003t0001others(3): Show | a0001c0001t0002g0129 a0001c0002t0001g0128 a0001c0002t0001g0228 others(7): Show |
10 | 268 | 0.0373 | 22 | c.-44 others(39): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210336287 | A | ATTTTTTT others(15): Show |
intron_variant | MODIFIER | HG01070.hp1 HG02723.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0003 | a0001c0001t0002g0132 a0001c0002t0003g0101 |
2 | 268 | 0.0075 | 22 | c.-44 others(39): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210386230 | C | CTTTCTTT others(15): Show |
intron_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0013 | 1 | 268 | 0.0037 | 22 | c.160 others(39): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210452758 | T | TATGGTAA others(15): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0229 | 1 | 268 | 0.0037 | 22 | c.857 others(41): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210569373 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03041.hp1 NA18992.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0090 a0001c0001t0001g0200 a0001c0001t0002g0129 others(1): Show |
4 | 268 | 0.0149 | 22 | c.104 others(43): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210601937 | C | CAGAGAGA others(15): Show |
intron_variant | MODIFIER | HG02056.hp1 HG03130.hp1 HG03453.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0006a0001c0001t0009others(2): Show | a0001c0001t0004g0220 a0001c0001t0006g0197 a0001c0001t0009g0207 others(3): Show |
6 | 268 | 0.0224 | 22 | c.124 others(43): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210679939 | T | TAATGCAA others(15): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 HG00733.hp1 HG01256.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0013a0001c0002t0012a0002c0003t0013 | a0001c0001t0013g0040 a0001c0002t0012g0068 a0001c0002t0012g0123 others(1): Show |
4 | 268 | 0.0149 | 22 | c.*55 others(33): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 3650 | chr1 | TogoVar | |||||||
HHIP_chr4_144641156_144750271 | 144645107 | G | GGTGTGTG others(15): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0201 | 1 | 316 | 0.0032 | 22 | c.-15 others(33): Show |
HHIP | ENSG00000164161.10 | transcript | ENST00000296575.8 | protein_coding | 1048 | chr4 | TogoVar | |||||||
HHLA2_chr3_108291548_108383285 | 108321091 | T | TAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG01346.hp2 HG01515.hp2 HG03239.hp1 others(3): Show |
a0004 | a0004c0006 | a0004c0006t0005 | a0004c0006t0005g0048 a0004c0006t0005g0049 a0004c0006t0005g0050 others(3): Show |
6 | 322 | 0.0186 | 22 | c.-27 others(41): Show |
HHLA2 | ENSG00000114455.15 | transcript | ENST00000467761.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
HIBADH_chr7_27520442_27667883 | 27527917 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 326 | 0.0031 | 22 | c.853 others(39): Show |
HIBADH | ENSG00000106049.9 | transcript | ENST00000265395.7 | protein_coding | 7/7 | chr7 | TogoVar | |||||||
HIBCH_chr2_190198920_190324826 | 190259319 | A | ATGTGTGT others(15): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0310 | 1 | 368 | 0.0027 | 22 | c.517 others(39): Show |
HIBCH | ENSG00000198130.16 | transcript | ENST00000359678.10 | protein_coding | 7/13 | chr2 | TogoVar | |||||||
HIBCH_chr2_190198920_190324826 | 190287027 | C | CGTGTGTG others(15): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 368 | 0.0027 | 22 | c.438 others(37): Show |
HIBCH | ENSG00000198130.16 | transcript | ENST00000359678.10 | protein_coding | 6/13 | chr2 | TogoVar | |||||||
HIC1_chr17_2050103_2068241 | 2066652 | T | TACACACA others(15): Show |
downstream_gene_variant | MODIFIER | HG01255.hp1 HG03710.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0010 | a0001c0001t0001g0001 a0001c0005t0010g0003 |
2 | 414 | 0.0048 | 22 | c.*78 others(33): Show |
HIC1 | ENSG00000177374.13 | transcript | ENST00000619757.5 | protein_coding | 3412 | chr17 | TogoVar | |||||||
HIF1A_chr14_61690513_61753258 | 61724349 | T | TTCTCTCT others(15): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01496.hp2 HG02523.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 a0001c0001t0001g0173 a0001c0001t0001g0200 |
3 | 322 | 0.0093 | 22 | c.458 others(39): Show |
HIF1A | ENSG00000100644.17 | transcript | ENST00000337138.9 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
HIF3A_chr19_46292042_46348433 | 46296148 | A | AACACACA others(15): Show |
upstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01243.hp1 others(1): Show |
a0001a0002 | a0001c0005a0002c0026 | a0001c0005t0001a0002c0026t0006 | a0001c0005t0001g0051 a0001c0005t0001g0052 a0001c0005t0001g0053 others(1): Show |
4 | 418 | 0.0096 | 22 | c.-92 others(31): Show |
HIF3A | ENSG00000124440.16 | transcript | ENST00000377670.9 | protein_coding | 893 | chr19 | TogoVar | |||||||
HIGD1C_chr12_50947544_50975607 | 50948931 | G | GGGAGGGG others(15): Show |
upstream_gene_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0098 | 1 | 380 | 0.0026 | 22 | c.-38 others(33): Show |
HIGD1C | ENSG00000214511.4 | transcript | ENST00000695931.1 | protein_coding | 3612 | chr12 | TogoVar | |||||||
HIGD2B_chr15_72670798_72691182 | 72687124 | C | CTTTTTTT others(15): Show |
upstream_gene_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 436 | 0.0023 | 22 | c.-15 others(33): Show |
HIGD2B | ENSG00000175202.6 | transcript | ENST00000311755.6 | protein_coding | 943 | chr15 | TogoVar | |||||||
HIKESHI_chr11_86297240_86350943 | 86318303 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01255.hp2 HG02280.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 a0001c0001t0001g0032 a0001c0001t0001g0074 others(6): Show |
10 | 398 | 0.0251 | 22 | c.268 others(41): Show |
HIKESHI | ENSG00000149196.17 | transcript | ENST00000278483.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HIP1_chr7_75528298_75743941 | 75595283 | C | CCTTCCTT others(15): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00558.hp1 HG01071.hp2 others(20): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0159 others(20): Show |
23 | 254 | 0.0906 | 22 | c.185 others(39): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 2/30 | chr7 | TogoVar | |||||||
HIP1_chr7_75528298_75743941 | 75595283 | C | CCTTTCTT others(15): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0049 | 1 | 254 | 0.0039 | 22 | c.185 others(39): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 2/30 | chr7 | TogoVar | |||||||
HIP1_chr7_75528298_75743941 | 75663936 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG00558.hp2 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 a0001c0001t0001g0240 |
2 | 254 | 0.0079 | 22 | c.121 others(41): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 1/30 | chr7 | TogoVar | |||||||
HIP1_chr7_75528298_75743941 | 75731184 | T | TTAAGAAG others(15): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 254 | 0.0039 | 22 | c.120 others(39): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 1/30 | chr7 | TogoVar | |||||||
HIP1_chr7_75528298_75743941 | 75740366 | C | CGTGTGTG others(15): Show |
upstream_gene_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0048 | 1 | 254 | 0.0039 | 22 | c.-14 others(33): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 1426 | chr7 | TogoVar | |||||||
HIPK2_chr7_139556570_139782998 | 139638656 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0029 | 1 | 154 | 0.0065 | 22 | c.110 others(41): Show |
HIPK2 | ENSG00000064393.16 | transcript | ENST00000406875.8 | protein_coding | 2/14 | chr7 | TogoVar | |||||||
HIPK3_chr11_33252381_33362023 | 33301821 | G | GACACACA others(15): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00558.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0026 others(23): Show |
26 | 342 | 0.0760 | 22 | c.109 others(43): Show |
HIPK3 | ENSG00000110422.12 | transcript | ENST00000303296.9 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HIPK3_chr11_33252381_33362023 | 33311975 | T | TACACACA others(15): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 342 | 0.0029 | 22 | c.109 others(43): Show |
HIPK3 | ENSG00000110422.12 | transcript | ENST00000303296.9 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HIRA_chr22_19325698_19436733 | 19390601 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02280.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0343 a0001c0001t0003g0344 |
2 | 364 | 0.0055 | 22 | c.936 others(39): Show |
HIRA | ENSG00000100084.14 | transcript | ENST00000263208.5 | protein_coding | 9/24 | chr22 | TogoVar | |||||||
HIRA_chr22_19325698_19436733 | 19422197 | C | CACACACA others(15): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0346 | 1 | 364 | 0.0028 | 22 | c.37+ others(37): Show |
HIRA | ENSG00000100084.14 | transcript | ENST00000263208.5 | protein_coding | 1/24 | chr22 | TogoVar | |||||||
HIVEP1_chr6_12007312_12169999 | 12046845 | C | CTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG02071.hp2 HG02723.hp1 NA18947.hp1 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(1): Show | a0001c0001t0001g0020 a0001c0001t0001g0104 a0001c0001t0001g0124 others(5): Show |
8 | 344 | 0.0233 | 22 | c.40+ others(39): Show |
HIVEP1 | ENSG00000095951.17 | transcript | ENST00000379388.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
HIVEP1_chr6_12007312_12169999 | 12074643 | T | TGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01109.hp1 HG01258.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0008 | a0002c0002t0001g0220 a0002c0002t0001g0225 a0002c0002t0001g0227 others(1): Show |
4 | 344 | 0.0116 | 22 | c.41- others(39): Show |
HIVEP1 | ENSG00000095951.17 | transcript | ENST00000379388.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
HIVEP1_chr6_12007312_12169999 | 12090735 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02886.hp1 |
a0007a0021 | a0007c0012a0021c0033 | a0007c0012t0001a0021c0033t0001 | a0007c0012t0001g0078 a0021c0033t0001g0019 |
2 | 344 | 0.0058 | 22 | c.94+ others(37): Show |
HIVEP1 | ENSG00000095951.17 | transcript | ENST00000379388.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
HIVEP3_chr1_41501365_41923922 | 41585181 | G | GGAGACAT others(15): Show |
5_prime_UTR_variant | MODIFIER | HG02647.hp1 | a0004 | a0004c0038 | a0004c0038t0059 | a0004c0038t0059g0080 | 1 | 134 | 0.0075 | 22 | c.-40 others(31): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 4/9 | 385 | chr1 | TogoVar | ||||||
HIVEP3_chr1_41501365_41923922 | 41665707 | T | TACACACA others(15): Show |
intron_variant | MODIFIER | HG00280.hp2 HG03516.hp2 HG03579.hp1 others(4): Show |
a0001a0002a0009others(1): Show | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0060a0001c0004t0012others(3): Show | a0001c0001t0001g0018 a0001c0001t0001g0122 a0001c0001t0060g0054 others(4): Show |
7 | 134 | 0.0522 | 22 | c.-72 others(43): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 2/8 | chr1 | TogoVar | |||||||
HIVEP3_chr1_41501365_41923922 | 41749404 | T | TTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG00280.hp2 NA18950.hp1 NA18974.hp1 others(1): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0004t0012a0002c0002t0035others(1): Show | a0001c0001t0001g0019 a0001c0004t0012g0113 a0002c0002t0035g0123 others(1): Show |
4 | 134 | 0.0299 | 22 | c.-80 others(43): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
HK1_chr10_69273496_69406882 | 69276116 | A | AATATATA others(15): Show |
upstream_gene_variant | MODIFIER | HG01099.hp1 HG02809.hp1 |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0013t0003 | a0001c0001t0001g0167 a0001c0013t0003g0257 |
2 | 280 | 0.0071 | 22 | c.-28 others(33): Show |
HK1 | ENSG00000156515.25 | transcript | ENST00000643399.2 | protein_coding | 2379 | chr10 | TogoVar | |||||||
HK1_chr10_69273496_69406882 | 69276118 | A | AAAAAATA others(15): Show |
upstream_gene_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 280 | 0.0036 | 22 | c.-28 others(33): Show |
HK1 | ENSG00000156515.25 | transcript | ENST00000643399.2 | protein_coding | 2377 | chr10 | TogoVar | |||||||
HK1_chr10_69273496_69406882 | 69276138 | T | TATATATA others(15): Show |
upstream_gene_variant | MODIFIER | NA18946.hp2 NA18960.hp1 |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0078 a0001c0004t0002g0129 |
2 | 280 | 0.0071 | 22 | c.-28 others(33): Show |
HK1 | ENSG00000156515.25 | transcript | ENST00000643399.2 | protein_coding | 2357 | chr10 | TogoVar | |||||||
HK2_chr2_74829127_74898359 | 74882605 | T | TTATATAT others(15): Show |
intron_variant | MODIFIER | HG00609.hp2 HG02300.hp2 HG02683.hp1 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0004a0003c0003others(1): Show | a0001c0001t0002a0002c0004t0013a0003c0003t0003others(2): Show | a0001c0001t0002g0148 a0002c0004t0013g0098 a0003c0003t0003g0029 others(4): Show |
7 | 394 | 0.0178 | 22 | c.183 others(39): Show |
HK2 | ENSG00000159399.10 | transcript | ENST00000290573.7 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HK2_chr2_74829127_74898359 | 74885845 | A | AACACACA others(15): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0364 | 1 | 394 | 0.0025 | 22 | c.193 others(39): Show |
HK2 | ENSG00000159399.10 | transcript | ENST00000290573.7 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |