| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HIP1_chr7_75528298_75743941 | 75577332 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01109.hp2 HG03486.hp1 HG03516.hp1 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0003a0001c0001t0027a0001c0009t0005 | a0001c0001t0003g0026a0001c0001t0027g0138a0001c0009t0005g0143 | 3 | 254 | 0.0118 | 13 | c.605 others(30): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 7/30 | chr7 | TogoVar | ||||||
| HIP1_chr7_75528298_75743941 | 75595248 | C | CTTTCTTT others(6): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0044 | 1 | 254 | 0.0039 | 13 | c.185 others(30): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 2/30 | chr7 | TogoVar | ||||||
| HIP1_chr7_75528298_75743941 | 75650453 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG02129.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0106a0001c0001t0001g0117a0001c0001t0001g0130others(3): Show | 6 | 254 | 0.0236 | 13 | c.121 others(32): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 1/30 | chr7 | TogoVar | ||||||
| HIP1_chr7_75528298_75743941 | 75715774 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02630.hp2 NA19030.hp1 |
a0001a0005 | a0001c0001a0005c0021 | a0001c0001t0003a0005c0021t0005 | a0001c0001t0003g0099a0005c0021t0005g0088 | 2 | 254 | 0.0079 | 13 | c.120 others(32): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 1/30 | chr7 | TogoVar | ||||||
| HIPK1_chr1_113924324_113982869 | 113938927 | A | AAATATAC others(6): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0329 | 1 | 382 | 0.0026 | 13 | c.-2- others(28): Show |
HIPK1 | ENSG00000163349.22 | transcript | ENST00000426820.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| HIPK1_chr1_113924324_113982869 | 113938927 | A | ATATACAC others(6): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00597.hp2 HG00673.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0004 | a0001c0001t0001g0022a0001c0001t0001g0023a0001c0001t0001g0086others(20): Show | 25 | 382 | 0.0655 | 13 | c.-2- others(28): Show |
HIPK1 | ENSG00000163349.22 | transcript | ENST00000426820.7 | protein_coding | 1/15 | chr1 | TogoVar | ||||||
| HIPK2_chr7_139556570_139782998 | 139634674 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02486.hp2 HG02622.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0009 | a0001c0001t0007a0001c0001t0016a0001c0001t0062others(4): Show | a0001c0001t0007g0132a0001c0001t0016g0038a0001c0001t0062g0035others(4): Show | 7 | 154 | 0.0455 | 13 | c.110 others(32): Show |
HIPK2 | ENSG00000064393.16 | transcript | ENST00000406875.8 | protein_coding | 2/14 | chr7 | TogoVar | ||||||
| HIPK3_chr11_33252381_33362023 | 33302339 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 342 | 0.0029 | 13 | c.109 others(34): Show |
HIPK3 | ENSG00000110422.12 | transcript | ENST00000303296.9 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| HIPK3_chr11_33252381_33362023 | 33310262 | G | GTCTATCT others(6): Show |
intron_variant | MODIFIER | HG01361.hp2 NA18960.hp1 NA19068.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0008a0001c0001t0003g0069a0001c0001t0003g0072 | 3 | 342 | 0.0088 | 13 | c.109 others(34): Show |
HIPK3 | ENSG00000110422.12 | transcript | ENST00000303296.9 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| HIPK3_chr11_33252381_33362023 | 33310266 | G | GTCTATCT others(6): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02148.hp2 HG02895.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0127a0001c0001t0001g0140a0001c0001t0003g0076others(2): Show | 5 | 342 | 0.0146 | 13 | c.109 others(34): Show |
HIPK3 | ENSG00000110422.12 | transcript | ENST00000303296.9 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| HIPK3_chr11_33252381_33362023 | 33310270 | G | GTCTATCT others(6): Show |
intron_variant | MODIFIER | HG02080.hp1 HG02129.hp2 HG02809.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0107a0001c0001t0001g0108a0001c0001t0001g0135others(8): Show | 11 | 342 | 0.0322 | 13 | c.109 others(34): 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(6): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01516.hp2 HG02135.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190a0001c0001t0001g0192a0001c0001t0001g0235others(2): Show | 5 | 364 | 0.0137 | 13 | c.936 others(30): Show |
HIRA | ENSG00000100084.14 | transcript | ENST00000263208.5 | protein_coding | 9/24 | chr22 | TogoVar | ||||||
| HIVEP1_chr6_12007312_12169999 | 12141691 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0279 | 1 | 344 | 0.0029 | 13 | c.648 others(32): Show |
HIVEP1 | ENSG00000095951.17 | transcript | ENST00000379388.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| HIVEP1_chr6_12007312_12169999 | 12168291 | A | ATATATAC others(6): Show |
downstream_gene_variant | MODIFIER | HG03098.hp1 NA20300.hp1 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0328a0001c0005t0001g0329 | 2 | 344 | 0.0058 | 13 | c.*38 others(24): Show |
HIVEP1 | ENSG00000095951.17 | transcript | ENST00000379388.7 | protein_coding | 3293 | chr6 | TogoVar | ||||||
| HIVEP2_chr6_142746469_142950176 | 142793656 | C | CTTTCTTT others(6): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0020 | 1 | 288 | 0.0035 | 13 | c.-52 others(34): Show |
HIVEP2 | ENSG00000010818.11 | transcript | ENST00000367603.8 | protein_coding | 2/9 | chr6 | TogoVar | ||||||
| HIVEP2_chr6_142746469_142950176 | 142793659 | T | TCTTTCTT others(6): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01074.hp1 HG01081.hp2 others(29): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0002others(9): Show | a0001c0001t0001g0039a0001c0001t0001g0046a0001c0001t0001g0047others(29): Show | 32 | 288 | 0.1111 | 13 | c.-52 others(34): Show |
HIVEP2 | ENSG00000010818.11 | transcript | ENST00000367603.8 | protein_coding | 2/9 | chr6 | TogoVar | ||||||
| HIVEP2_chr6_142746469_142950176 | 142803597 | A | ACACACAC others(6): Show |
intron_variant | MODIFIER | HG01169.hp1 HG01169.hp2 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0002 | a0001c0001t0001g0075a0001c0009t0002g0165 | 2 | 288 | 0.0069 | 13 | c.-52 others(34): Show |
HIVEP2 | ENSG00000010818.11 | transcript | ENST00000367603.8 | protein_coding | 2/9 | chr6 | TogoVar | ||||||
| HIVEP3_chr1_41501365_41923922 | 41638256 | G | GAGAAAGA others(6): Show |
intron_variant | MODIFIER | HG00408.hp1 NA18942.hp2 NA18950.hp2 |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0068a0001c0001t0073 | a0001c0001t0018g0130a0001c0001t0068g0124a0001c0001t0073g0116 | 3 | 134 | 0.0224 | 13 | c.-72 others(32): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 2/8 | chr1 | TogoVar | ||||||
| HIVEP3_chr1_41501365_41923922 | 41643906 | T | TTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02056.hp2 NA21309.hp1 |
a0002a0023 | a0002c0002a0023c0027 | a0002c0002t0011a0002c0002t0063a0023c0027t0003 | a0002c0002t0011g0121a0002c0002t0063g0022a0023c0027t0003g0077 | 3 | 134 | 0.0224 | 13 | c.-72 others(34): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 2/8 | chr1 | TogoVar | ||||||
| HK1_chr10_69273496_69406882 | 69276116 | A | ATATATAT others(6): Show |
upstream_gene_variant | MODIFIER | HG02273.hp2 NA18942.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0205a0001c0002t0001g0275 | 2 | 280 | 0.0071 | 13 | c.-28 others(24): Show |
HK1 | ENSG00000156515.25 | transcript | ENST00000643399.2 | protein_coding | 2379 | chr10 | TogoVar | ||||||
| HK1_chr10_69273496_69406882 | 69276118 | A | AAAAAAAT others(6): Show |
upstream_gene_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0259 | 1 | 280 | 0.0036 | 13 | c.-28 others(24): Show |
HK1 | ENSG00000156515.25 | transcript | ENST00000643399.2 | protein_coding | 2377 | chr10 | TogoVar | ||||||
| HK1_chr10_69273496_69406882 | 69276118 | A | AAAAATAT others(6): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG02818.hp2 NA18948.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0154a0001c0001t0001g0264a0001c0002t0001g0260others(1): Show | 4 | 280 | 0.0143 | 13 | c.-28 others(24): Show |
HK1 | ENSG00000156515.25 | transcript | ENST00000643399.2 | protein_coding | 2377 | chr10 | TogoVar | ||||||
| HK1_chr10_69273496_69406882 | 69276118 | A | AAATATAT others(6): Show |
upstream_gene_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0155 | 1 | 280 | 0.0036 | 13 | c.-28 others(24): Show |
HK1 | ENSG00000156515.25 | transcript | ENST00000643399.2 | protein_coding | 2377 | chr10 | TogoVar | ||||||
| HK1_chr10_69273496_69406882 | 69276118 | A | ATATATAT others(6): Show |
upstream_gene_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 280 | 0.0036 | 13 | c.-28 others(24): Show |
HK1 | ENSG00000156515.25 | transcript | ENST00000643399.2 | protein_coding | 2377 | chr10 | TogoVar | ||||||
| HKDC1_chr10_69215332_69272552 | 69233897 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(107): Show |
a0001a0002a0003others(2): Show | a0001c0003a0001c0005a0001c0018others(12): Show | a0001c0003t0001a0001c0003t0002a0001c0005t0001others(19): Show | a0001c0003t0001g0335a0001c0003t0002g0065a0001c0005t0001g0034others(105): Show | 110 | 380 | 0.2895 | 13 | c.495 others(28): Show |
HKDC1 | ENSG00000156510.13 | transcript | ENST00000354624.6 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| HLA-DQA1_chr6_32632406_32648684 | 32634241 | A | AAAAAAAG others(6): Show |
upstream_gene_variant | MODIFIER | HG01256.hp2 HG01258.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0005 | 2 | 86 | 0.0233 | 13 | c.-32 others(24): Show |
HLA-DQA1 | ENSG00000196735.13 | transcript | ENST00000343139.11 | protein_coding | 3164 | chr6 | TogoVar | ||||||
| HLA-DQA2_chr6_32736391_32752198 | 32747183 | C | CAAAAAAA others(6): Show |
3_prime_UTR_variant | MODIFIER | HG02622.hp2 | a0003 | a0003c0009 | a0003c0009t0017 | a0003c0009t0017g0056 | 1 | 455 | 0.0022 | 13 | c.*59 others(22): Show |
HLA-DQA2 | ENSG00000237541.4 | transcript | ENST00000374940.4 | protein_coding | 5/5 | 765 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||
| HLA-DRA_chr6_32434887_32450046 | 32435620 | A | ACACACAC others(6): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0006a0002c0002t0002 | a0001c0001t0001g0001a0001c0001t0006g0012a0002c0002t0002g0016others(1): Show | 15 | 459 | 0.0327 | 13 | c.-43 others(24): Show |
HLA-DRA | ENSG00000204287.14 | transcript | ENST00000395388.7 | protein_coding | 4266 | chr6 | TogoVar | ||||||
| HLA-DRA_chr6_32434887_32450046 | 32439070 | T | TAAAAAAA others(6): Show |
upstream_gene_variant | MODIFIER | HG02897.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0003 | 1 | 459 | 0.0022 | 13 | c.-88 others(22): Show |
HLA-DRA | ENSG00000204287.14 | transcript | ENST00000395388.7 | protein_coding | 816 | chr6 | TogoVar | ||||||
| HLA-DRA_chr6_32434887_32450046 | 32449276 | G | GAAAGAGA others(6): Show |
downstream_gene_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 459 | 0.0022 | 13 | c.*46 others(24): Show |
HLA-DRA | ENSG00000204287.14 | transcript | ENST00000395388.7 | protein_coding | 4231 | chr6 | TogoVar | ||||||
| HLA-F_chr6_29718434_29732296 | 29722793 | G | GAAGAAGA others(6): Show |
upstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 443 | 0.0023 | 13 | c.-67 others(22): Show |
HLA-F | ENSG00000204642.14 | transcript | ENST00000259951.12 | protein_coding | 640 | chr6 | TogoVar | ||||||
| HLA-G_chr6_29822825_29836021 | 29831449 | T | TTTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00544.hp1 others(25): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0002a0001c0004t0004 | a0001c0003t0002g0002a0001c0004t0004g0004 | 28 | 479 | 0.0585 | 13 | c.*71 others(22): Show |
HLA-G | ENSG00000204632.13 | transcript | ENST00000360323.11 | protein_coding | 429 | chr6 | TogoVar | ||||||
| HLCS_chr21_36743626_36971669 | 36793295 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01255.hp1 HG01256.hp2 others(18): Show |
a0001a0006 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0122a0001c0001t0002g0174a0001c0001t0002g0238others(18): Show | 21 | 258 | 0.0814 | 13 | c.189 others(34): Show |
HLCS | ENSG00000159267.17 | transcript | ENST00000674895.3 | protein_coding | 6/10 | chr21 | TogoVar | ||||||
| HLCS_chr21_36743626_36971669 | 36823610 | G | GGTTGTGT others(6): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0167 | 1 | 258 | 0.0039 | 13 | c.189 others(34): Show |
HLCS | ENSG00000159267.17 | transcript | ENST00000674895.3 | protein_coding | 6/10 | chr21 | TogoVar | ||||||
| HLTF_chr3_149025127_149091533 | 149035690 | T | TTTAAGAG others(6): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00438.hp1 others(90): Show |
a0001a0012a0013 | a0001c0002a0001c0007a0012c0020others(1): Show | a0001c0002t0003a0001c0002t0004a0001c0002t0013others(4): Show | a0001c0002t0003g0002a0001c0002t0003g0004a0001c0002t0003g0005others(78): Show | 93 | 404 | 0.2302 | 13 | c.279 others(30): Show |
HLTF | ENSG00000071794.16 | transcript | ENST00000310053.10 | protein_coding | 23/24 | chr3 | TogoVar | ||||||
| HLTF_chr3_149025127_149091533 | 149036297 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00597.hp1 others(41): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0005others(7): Show | a0001c0001t0001a0001c0002t0006a0001c0002t0010others(8): Show | a0001c0001t0001g0008a0001c0001t0001g0020a0001c0001t0001g0132others(37): Show | 44 | 404 | 0.1089 | 13 | c.279 others(32): Show |
HLTF | ENSG00000071794.16 | transcript | ENST00000310053.10 | protein_coding | 23/24 | chr3 | TogoVar | ||||||
| HLTF_chr3_149025127_149091533 | 149079373 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0131 | 1 | 404 | 0.0025 | 13 | c.229 others(30): Show |
HLTF | ENSG00000071794.16 | transcript | ENST00000310053.10 | protein_coding | 2/24 | chr3 | TogoVar | ||||||
| HMBOX1_chr8_28885395_29058262 | 28895674 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0115 | 1 | 344 | 0.0029 | 13 | c.-58 others(30): Show |
HMBOX1 | ENSG00000147421.18 | transcript | ENST00000287701.15 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| HMBOX1_chr8_28885395_29058262 | 28900267 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0289 | 1 | 344 | 0.0029 | 13 | c.-58 others(30): Show |
HMBOX1 | ENSG00000147421.18 | transcript | ENST00000287701.15 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
| HMBOX1_chr8_28885395_29058262 | 28900269 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01109.hp1 HG03654.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0257a0001c0001t0001g0258a0001c0001t0001g0259others(2): Show | 5 | 344 | 0.0145 | 13 | c.-58 others(30): Show |
HMBOX1 | ENSG00000147421.18 | transcript | ENST00000287701.15 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
| HMBOX1_chr8_28885395_29058262 | 28973803 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00558.hp2 HG03654.hp2 NA18988.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0089a0001c0001t0004g0043a0001c0001t0004g0046 | 3 | 344 | 0.0087 | 13 | c.500 others(30): Show |
HMBOX1 | ENSG00000147421.18 | transcript | ENST00000287701.15 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| HMBOX1_chr8_28885395_29058262 | 28973812 | T | TTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02257.hp1 HG02615.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0008 | a0001c0001t0003g0086a0001c0001t0003g0099a0001c0001t0003g0101others(10): Show | 13 | 344 | 0.0378 | 13 | c.500 others(30): Show |
HMBOX1 | ENSG00000147421.18 | transcript | ENST00000287701.15 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| HMBOX1_chr8_28885395_29058262 | 28973813 | T | TTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0108 | 1 | 344 | 0.0029 | 13 | c.500 others(30): Show |
HMBOX1 | ENSG00000147421.18 | transcript | ENST00000287701.15 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| HMCN1_chr1_185729391_186195949 | 185999462 | A | ATTTGTCT others(6): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02055.hp1 HG02109.hp1 others(6): Show |
a0005a0007a0009others(2): Show | a0005c0005a0007c0010a0009c0052others(2): Show | a0005c0005t0003a0007c0010t0001a0007c0010t0002others(3): Show | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(6): Show | 9 | 92 | 0.0978 | 13 | c.387 others(30): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 25/106 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| HMCN1_chr1_185729391_186195949 | 186110977 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02055.hp1 HG02486.hp2 others(2): Show |
a0004a0005a0011 | a0004c0002a0005c0005a0011c0008 | a0004c0002t0001a0005c0005t0003a0011c0008t0001 | a0004c0002t0001g0017a0005c0005t0003g0011a0005c0005t0003g0012others(2): Show | 5 | 92 | 0.0544 | 13 | c.109 others(34): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 71/106 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| HMCN2_chr9_130260760_130439123 | 130305937 | T | TGCTCAGG others(6): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0029 | a0029c0144 | a0029c0144t0002 | a0029c0144t0002g0251 | 1 | 258 | 0.0039 | 13 | c.181 others(30): Show |
HMCN2 | ENSG00000148357.18 | transcript | ENST00000683500.2 | protein_coding | 11/97 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| HMCN2_chr9_130260760_130439123 | 130315243 | T | TCCCTCCC others(6): Show |
intron_variant | MODIFIER | HG02257.hp2 NA19090.hp1 |
a0035a0154 | a0035c0118a0154c0173 | a0035c0118t0001a0154c0173t0002 | a0035c0118t0001g0060a0154c0173t0002g0250 | 2 | 258 | 0.0078 | 13 | c.235 others(32): Show |
HMCN2 | ENSG00000148357.18 | transcript | ENST00000683500.2 | protein_coding | 15/97 | chr9 | TogoVar | ||||||
| HMGA2_chr12_65819483_65971291 | 65838998 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00733.hp1 HG01070.hp1 others(69): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0023a0001c0001t0001g0029a0001c0001t0001g0032others(69): Show | 72 | 236 | 0.3051 | 13 | c.249 others(28): Show |
HMGA2 | ENSG00000149948.14 | transcript | ENST00000403681.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| HMGA2_chr12_65819483_65971291 | 65875589 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01167.hp2 HG01258.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0009a0001c0001t0014a0001c0001t0017others(8): Show | a0001c0001t0009g0104a0001c0001t0014g0112a0001c0001t0017g0105others(8): Show | 11 | 236 | 0.0466 | 13 | c.249 others(32): Show |
HMGA2 | ENSG00000149948.14 | transcript | ENST00000403681.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| HMGB1_chr13_30451704_30470936 | 30466222 | C | CACATGCA others(6): Show |
upstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0003 | a0001c0003t0128 | a0001c0003t0128g0225 | 1 | 384 | 0.0026 | 13 | c.-44 others(22): Show |
HMGB1 | ENSG00000189403.15 | transcript | ENST00000341423.10 | protein_coding | 287 | chr13 | TogoVar |