| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HMGA2_chr12_65819483_65971291 | 65931551 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG01243.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(18): Show | a0001c0001t0002g0060a0001c0001t0003g0009a0001c0001t0005g0014others(23): Show | 26 | 236 | 0.1102 | 8 | c.250 others(27): Show |
HMGA2 | ENSG00000149948.14 | transcript | ENST00000403681.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| HMGB1_chr13_30451704_30470936 | 30452880 | A | ATATTTAT others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(223): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(59): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0011others(118): Show | 226 | 384 | 0.5885 | 8 | c.*84 others(19): Show |
HMGB1 | ENSG00000189403.15 | transcript | ENST00000341423.10 | protein_coding | 3823 | chr13 | TogoVar | ||||||
| HMGB1_chr13_30451704_30470936 | 30464761 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(139): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(42): Show | a0001c0001t0001g0001a0001c0001t0001g0033a0001c0001t0001g0095others(62): Show | 142 | 384 | 0.3698 | 8 | c.-15 others(25): Show |
HMGB1 | ENSG00000189403.15 | transcript | ENST00000341423.10 | protein_coding | 1/4 | chr13 | TogoVar | ||||||
| HMGB2_chr4_173326376_173339358 | 173331375 | C | CATATATA others(1): Show |
splice_region_variant | LOW | HG00099.hp2 HG02109.hp1 HG02886.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0001a0001c0001t0009g0012 | 4 | 370 | 0.0108 | 8 | c.*69 others(17): Show |
HMGB2 | ENSG00000164104.12 | transcript | ENST00000296503.10 | protein_coding | 5/5 | chr4 | TogoVar | ||||||
| HMGB3_chrX_150978335_150995771 | 150987334 | A | ATAGGCAG others(1): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 330 | 0.0030 | 8 | c.465 others(21): Show |
HMGB3 | ENSG00000029993.15 | transcript | ENST00000325307.12 | protein_coding | 4/4 | chrX | TogoVar | ||||||
| HMGB3_chrX_150978335_150995771 | 150995646 | T | TAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0002 | 1 | 330 | 0.0030 | 8 | c.*77 others(19): Show |
HMGB3 | ENSG00000029993.15 | transcript | ENST00000325307.12 | protein_coding | 4876 | chrX | TogoVar | ||||||
| HMGB4_chr1_33859079_33869791 | 33862343 | C | CTGTGTGT others(1): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG01109.hp1 HG01123.hp1 others(45): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0006 | a0001c0001t0001a0002c0002t0001a0006c0006t0001 | a0001c0001t0001g0000a0002c0002t0001g0000a0006c0006t0001g0000 | 48 | 402 | 0.1194 | 8 | c.-18 others(19): Show |
HMGB4 | ENSG00000176256.11 | transcript | ENST00000681531.1 | protein_coding | 1735 | chr1 | TogoVar | ||||||
| HMGCLL1_chr6_55429373_55584192 | 55477283 | T | TAAATATA others(1): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 HG03139.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0094a0001c0001t0001g0225a0001c0001t0001g0231others(6): Show | 9 | 334 | 0.0270 | 8 | c.795 others(27): Show |
HMGCLL1 | ENSG00000146151.14 | transcript | ENST00000274901.9 | protein_coding | 7/8 | chr6 | TogoVar | ||||||
| HMGCLL1_chr6_55429373_55584192 | 55477366 | T | TAATATAT others(1): Show |
intron_variant | MODIFIER | HG01358.hp2 HG02717.hp1 NA18612.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0016 | a0001c0001t0002g0250a0001c0001t0007g0189a0001c0001t0007g0248others(1): Show | 4 | 334 | 0.0120 | 8 | c.795 others(27): Show |
HMGCLL1 | ENSG00000146151.14 | transcript | ENST00000274901.9 | protein_coding | 7/8 | chr6 | TogoVar | ||||||
| HMGCLL1_chr6_55429373_55584192 | 55520246 | T | TAATAAAT others(1): Show |
intron_variant | MODIFIER | HG02132.hp2 HG02523.hp2 HG02698.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0040a0001c0001t0001g0041others(3): Show | 6 | 334 | 0.0180 | 8 | c.298 others(25): Show |
HMGCLL1 | ENSG00000146151.14 | transcript | ENST00000274901.9 | protein_coding | 3/8 | chr6 | TogoVar | ||||||
| HMGCLL1_chr6_55429373_55584192 | 55539859 | G | GAAGAAAG others(1): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00673.hp1 HG00738.hp2 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0042a0001c0001t0001g0045a0001c0001t0001g0068others(28): Show | 31 | 334 | 0.0928 | 8 | c.297 others(25): Show |
HMGCLL1 | ENSG00000146151.14 | transcript | ENST00000274901.9 | protein_coding | 3/8 | chr6 | TogoVar | ||||||
| HMGCLL1_chr6_55429373_55584192 | 55549373 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00621.hp1 others(33): Show |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(2): Show | a0001c0001t0001g0022a0001c0001t0001g0059a0001c0001t0001g0067others(33): Show | 36 | 334 | 0.1078 | 8 | c.109 others(25): Show |
HMGCLL1 | ENSG00000146151.14 | transcript | ENST00000274901.9 | protein_coding | 1/8 | chr6 | TogoVar | ||||||
| HMGCLL1_chr6_55429373_55584192 | 55553248 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02257.hp1 HG02257.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0286a0001c0001t0002g0096a0001c0001t0002g0287others(12): Show | 15 | 334 | 0.0449 | 8 | c.109 others(27): Show |
HMGCLL1 | ENSG00000146151.14 | transcript | ENST00000274901.9 | protein_coding | 1/8 | chr6 | TogoVar | ||||||
| HMGCL_chr1_23796885_23830429 | 23823346 | A | ATATTTAT others(1): Show |
intron_variant | MODIFIER | HG01109.hp2 HG03041.hp1 HG03195.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055a0001c0001t0001g0056a0001c0001t0001g0159others(2): Show | 5 | 372 | 0.0134 | 8 | c.60+ others(23): Show |
HMGCL | ENSG00000117305.15 | transcript | ENST00000374490.8 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
| HMGCL_chr1_23796885_23830429 | 23826765 | C | CATCTATC others(1): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00639.hp1 others(98): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(83): Show | 101 | 372 | 0.2715 | 8 | c.-13 others(19): Show |
HMGCL | ENSG00000117305.15 | transcript | ENST00000374490.8 | protein_coding | 1337 | chr1 | TogoVar | ||||||
| HMGCL_chr1_23796885_23830429 | 23830113 | G | GTGTATAT others(1): Show |
upstream_gene_variant | MODIFIER | HG02055.hp1 HG03540.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020a0001c0001t0001g0069a0001c0001t0001g0246 | 3 | 372 | 0.0081 | 8 | c.-46 others(19): Show |
HMGCL | ENSG00000117305.15 | transcript | ENST00000374490.8 | protein_coding | 4685 | chr1 | TogoVar | ||||||
| HMGCR_chr5_75332220_75367101 | 75333339 | T | TACACACA others(1): Show |
upstream_gene_variant | MODIFIER | HG02723.hp2 NA18971.hp1 NA19074.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004a0001c0001t0002g0160 | 3 | 390 | 0.0077 | 8 | c.-39 others(19): Show |
HMGCR | ENSG00000113161.17 | transcript | ENST00000287936.9 | protein_coding | 3880 | chr5 | TogoVar | ||||||
| HMGCR_chr5_75332220_75367101 | 75333341 | T | TACACACA others(1): Show |
upstream_gene_variant | MODIFIER | HG00621.hp1 HG01074.hp2 HG01099.hp2 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0016others(22): Show | 41 | 390 | 0.1051 | 8 | c.-39 others(19): Show |
HMGCR | ENSG00000113161.17 | transcript | ENST00000287936.9 | protein_coding | 3878 | chr5 | TogoVar | ||||||
| HMGCR_chr5_75332220_75367101 | 75333341 | T | TATATACA others(1): Show |
upstream_gene_variant | MODIFIER | HG02132.hp2 NA18962.hp1 NA19063.hp1 |
a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0025a0001c0002t0009g0026 | 3 | 390 | 0.0077 | 8 | c.-39 others(19): Show |
HMGCR | ENSG00000113161.17 | transcript | ENST00000287936.9 | protein_coding | 3878 | chr5 | TogoVar | ||||||
| HMGN1_chr21_39337315_39354088 | 39345109 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG01516.hp2 HG01517.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0027a0001c0001t0005g0088 | 3 | 414 | 0.0073 | 8 | c.255 others(21): Show |
HMGN1 | ENSG00000205581.11 | transcript | ENST00000380749.10 | protein_coding | 5/5 | chr21 | TogoVar | ||||||
| HMGN1_chr21_39337315_39354088 | 39347057 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01175.hp2 HG02055.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0008a0001c0001t0005g0018a0001c0001t0005g0035others(7): Show | 22 | 414 | 0.0531 | 8 | c.126 others(25): Show |
HMGN1 | ENSG00000205581.11 | transcript | ENST00000380749.10 | protein_coding | 4/5 | chr21 | TogoVar | ||||||
| HMGN1_chr21_39337315_39354088 | 39349729 | C | CCTTCCTT others(1): Show |
upstream_gene_variant | MODIFIER | HG01346.hp2 HG02559.hp1 HG02572.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0015a0001c0001t0019 | a0001c0001t0007g0003a0001c0001t0015g0099a0001c0001t0019g0073 | 15 | 414 | 0.0362 | 8 | c.-81 others(17): Show |
HMGN1 | ENSG00000205581.11 | transcript | ENST00000380749.10 | protein_coding | 642 | chr21 | TogoVar | ||||||
| HMGN3_chr6_79196245_79239682 | 79238247 | G | GACACACA others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(74): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0010 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0007others(42): Show | 77 | 322 | 0.2391 | 8 | c.-36 others(19): Show |
HMGN3 | ENSG00000118418.16 | transcript | ENST00000620514.2 | protein_coding | 3566 | chr6 | TogoVar | ||||||
| HMGN4_chr6_26533366_26551933 | 26533744 | A | ATGTGTGT others(1): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00735.hp2 HG01069.hp2 others(14): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0012a0001c0002t0001g0016a0001c0002t0001g0020others(4): Show | 17 | 396 | 0.0429 | 8 | c.-48 others(19): Show |
HMGN4 | ENSG00000182952.5 | transcript | ENST00000377575.3 | protein_coding | 4621 | chr6 | TogoVar | ||||||
| HMGN4_chr6_26533366_26551933 | 26533794 | T | TATAGAGA others(1): Show |
upstream_gene_variant | MODIFIER | HG01433.hp2 HG01516.hp2 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 3 | 396 | 0.0076 | 8 | c.-47 others(19): Show |
HMGN4 | ENSG00000182952.5 | transcript | ENST00000377575.3 | protein_coding | 4571 | chr6 | TogoVar | ||||||
| HMGN4_chr6_26533366_26551933 | 26535480 | C | CTTTTTTT others(1): Show |
upstream_gene_variant | MODIFIER | HG00597.hp2 HG00733.hp1 HG01069.hp1 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0003a0001c0002t0001g0008a0001c0002t0001g0017others(2): Show | 9 | 396 | 0.0227 | 8 | c.-31 others(19): Show |
HMGN4 | ENSG00000182952.5 | transcript | ENST00000377575.3 | protein_coding | 2885 | chr6 | TogoVar | ||||||
| HMGN4_chr6_26533366_26551933 | 26548841 | C | CAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00735.hp1 HG01175.hp1 HG02738.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009 | a0001c0001t0001g0084a0001c0001t0002g0001a0001c0001t0002g0005others(4): Show | 9 | 396 | 0.0227 | 8 | c.*33 others(19): Show |
HMGN4 | ENSG00000182952.5 | transcript | ENST00000377575.3 | protein_coding | 1909 | chr6 | TogoVar | ||||||
| HMGN5_chrX_81108699_81206913 | 81113379 | A | AACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 HG01192.hp1 HG02258.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(1): Show | a0001c0001t0001g0044a0001c0001t0001g0079a0001c0001t0001g0092others(10): Show | 13 | 225 | 0.0578 | 8 | c.*12 others(19): Show |
HMGN5 | ENSG00000198157.11 | transcript | ENST00000358130.7 | protein_coding | 319 | chrX | TogoVar | ||||||
| HMGN5_chrX_81108699_81206913 | 81141462 | C | CAGAGAGA others(1): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 225 | 0.0044 | 8 | c.-12 others(29): Show |
HMGN5 | ENSG00000198157.11 | transcript | ENST00000358130.7 | protein_coding | 1/6 | chrX | TogoVar | ||||||
| HMGN5_chrX_81108699_81206913 | 81141486 | G | GAGAGAGA others(1): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0007 | 1 | 225 | 0.0044 | 8 | c.-12 others(29): Show |
HMGN5 | ENSG00000198157.11 | transcript | ENST00000358130.7 | protein_coding | 1/6 | chrX | TogoVar | ||||||
| HMGN5_chrX_81108699_81206913 | 81153550 | C | CCTCTCTC others(1): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02735.hp1 HG02818.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0031a0001c0001t0001g0065others(8): Show | 11 | 225 | 0.0489 | 8 | c.-12 others(29): Show |
HMGN5 | ENSG00000198157.11 | transcript | ENST00000358130.7 | protein_coding | 1/6 | chrX | TogoVar | ||||||
| HMGXB3_chr5_149995739_150058128 | 150008055 | T | TCTCACAC others(1): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02109.hp1 NA18522.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0004a0003c0004t0017 | a0001c0001t0001g0150a0003c0004t0004g0022a0003c0004t0017g0128 | 4 | 380 | 0.0105 | 8 | c.312 others(25): Show |
HMGXB3 | ENSG00000113716.13 | transcript | ENST00000502717.6 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| HMGXB3_chr5_149995739_150058128 | 150028541 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02080.hp1 HG06807.hp1 NA18945.hp1 others(2): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0036a0001c0001t0001g0172a0004c0005t0001g0252others(2): Show | 5 | 380 | 0.0132 | 8 | c.173 others(27): Show |
HMGXB3 | ENSG00000113716.13 | transcript | ENST00000502717.6 | protein_coding | 9/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| HMGXB4_chr22_35252493_35300807 | 35253144 | A | AAAAAAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00423.hp1 others(130): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(6): Show | a0001c0001t0001g0017a0001c0001t0001g0020a0001c0001t0001g0049others(92): Show | 133 | 342 | 0.3889 | 8 | c.-44 others(19): Show |
HMGXB4 | ENSG00000100281.14 | transcript | ENST00000216106.6 | protein_coding | 4348 | chr22 | TogoVar | ||||||
| HMOX1_chr22_35376096_35399207 | 35380833 | T | TTGTGTGT others(1): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 HG00673.hp1 HG03130.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0048a0002c0002t0001g0021a0002c0002t0001g0208others(6): Show | 9 | 384 | 0.0234 | 8 | c.-34 others(17): Show |
HMOX1 | ENSG00000100292.18 | transcript | ENST00000216117.9 | protein_coding | 262 | chr22 | TogoVar | ||||||
| HMOX1_chr22_35376096_35399207 | 35389189 | T | TTTTCTTT others(1): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01106.hp2 HG01109.hp1 others(32): Show |
a0001a0003 | a0001c0001a0003c0009 | a0001c0001t0001a0003c0009t0001 | a0001c0001t0001g0002a0001c0001t0001g0012a0001c0001t0001g0013others(27): Show | 35 | 384 | 0.0912 | 8 | c.637 others(23): Show |
HMOX1 | ENSG00000100292.18 | transcript | ENST00000216117.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| HMOX1_chr22_35376096_35399207 | 35389341 | C | CTCCTTCC others(1): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01256.hp2 HG01258.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018a0001c0001t0001g0247a0001c0001t0001g0248others(5): Show | 9 | 384 | 0.0234 | 8 | c.637 others(23): Show |
HMOX1 | ENSG00000100292.18 | transcript | ENST00000216117.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| HMOX1_chr22_35376096_35399207 | 35389395 | C | CCTTCCTT others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG04184.hp2 NA19087.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129a0001c0001t0001g0197a0001c0001t0001g0221others(2): Show | 5 | 384 | 0.0130 | 8 | c.637 others(23): Show |
HMOX1 | ENSG00000100292.18 | transcript | ENST00000216117.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| HMOX1_chr22_35376096_35399207 | 35389395 | C | CCTTTCTT others(1): Show |
intron_variant | MODIFIER | HG01358.hp2 HG02258.hp1 NA19012.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0002c0002t0001 | a0001c0001t0001g0080a0001c0001t0001g0103a0001c0001t0004g0077others(1): Show | 4 | 384 | 0.0104 | 8 | c.637 others(23): Show |
HMOX1 | ENSG00000100292.18 | transcript | ENST00000216117.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| HMOX1_chr22_35376096_35399207 | 35394154 | T | TTAAAGTT others(1): Show |
3_prime_UTR_variant | MODIFIER | HG01891.hp1 HG02258.hp1 HG02630.hp1 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0001t0006a0001c0004t0004 | a0001c0001t0004g0075a0001c0001t0004g0077a0001c0001t0006g0183others(2): Show | 5 | 384 | 0.0130 | 8 | c.*55 others(17): Show |
HMOX1 | ENSG00000100292.18 | transcript | ENST00000216117.9 | protein_coding | 5/5 | 557 | chr22 | TogoVar | |||||
| HMOX1_chr22_35376096_35399207 | 35395239 | A | ATTTTTTT others(1): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(67): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0007a0002c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(66): Show | 70 | 384 | 0.1823 | 8 | c.*16 others(19): Show |
HMOX1 | ENSG00000100292.18 | transcript | ENST00000216117.9 | protein_coding | 1033 | chr22 | TogoVar | ||||||
| HMSD_chr18_63944301_63966835 | 63950415 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00438.hp1 others(42): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0017 | a0001c0001t0002g0005a0001c0001t0002g0008a0001c0001t0002g0010others(15): Show | 45 | 404 | 0.1114 | 8 | c.-10 others(27): Show |
HMSD | ENSG00000221887.6 | transcript | ENST00000408945.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| HMSD_chr18_63944301_63966835 | 63963046 | T | TTTTCTTT others(1): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG01243.hp2 HG02027.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006a0001c0001t0002g0008a0001c0001t0002g0016others(19): Show | 22 | 404 | 0.0545 | 8 | c.*26 others(19): Show |
HMSD | ENSG00000221887.6 | transcript | ENST00000408945.5 | protein_coding | 1212 | chr18 | TogoVar | ||||||
| HMX2_chr10_123143136_123155672 | 123152549 | T | TACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG01081.hp1 HG01081.hp2 NA19004.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0007 | 4 | 448 | 0.0089 | 8 | c.*24 others(19): Show |
HMX2 | ENSG00000188816.4 | transcript | ENST00000339992.4 | protein_coding | 1878 | chr10 | TogoVar | ||||||
| HNF1A_chr12_120973543_121007512 | 120983916 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02895.hp1 HG02976.hp2 others(10): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0003t0001 | a0001c0001t0001g0207a0001c0001t0003g0143a0001c0003t0001g0012others(5): Show | 13 | 410 | 0.0317 | 8 | c.326 others(25): Show |
HNF1A | ENSG00000135100.19 | transcript | ENST00000257555.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| HNF1A_chr12_120973543_121007512 | 120987763 | G | GATCTATC others(1): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01071.hp2 HG02165.hp1 |
a0001a0002a0006 | a0001c0001a0002c0011a0006c0009 | a0001c0001t0003a0002c0011t0002a0006c0009t0004 | a0001c0001t0003g0071a0002c0011t0002g0198a0006c0009t0004g0085 | 3 | 410 | 0.0073 | 8 | c.327 others(25): Show |
HNF1A | ENSG00000135100.19 | transcript | ENST00000257555.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| HNF1A_chr12_120973543_121007512 | 120996827 | C | CTCATTCA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(311): Show |
a0000a0001a0002others(7): Show | a0000c0020a0001c0001a0001c0003others(20): Show | a0000c0020t0001a0001c0001t0001a0001c0001t0002others(40): Show | a0000c0020t0001g0124a0001c0001t0001g0022a0001c0001t0001g0024others(247): Show | 314 | 410 | 0.7659 | 8 | c.130 others(24): Show |
HNF1A | ENSG00000135100.19 | transcript | ENST00000257555.11 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| HNF1B_chr17_37681431_37750059 | 37688380 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00609.hp1 HG00735.hp1 others(53): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0009a0001c0001t0001g0150a0001c0001t0001g0202others(53): Show | 56 | 409 | 0.1369 | 8 | c.165 others(25): Show |
HNF1B | ENSG00000275410.6 | transcript | ENST00000617811.5 | protein_coding | 8/8 | chr17 | TogoVar | ||||||
| HNF1B_chr17_37681431_37750059 | 37716842 | A | ATCTCTCT others(1): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02148.hp2 HG03654.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0393a0001c0001t0002g0114a0001c0001t0003g0043others(2): Show | 5 | 409 | 0.0122 | 8 | c.104 others(27): Show |
HNF1B | ENSG00000275410.6 | transcript | ENST00000617811.5 | protein_coding | 4/8 | chr17 | TogoVar | ||||||
| HNF4A_chr20_44350699_44437845 | 44407757 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00621.hp2 HG00642.hp2 others(30): Show |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0025a0001c0001t0001g0053a0001c0001t0001g0065others(30): Show | 33 | 322 | 0.1025 | 8 | c.319 others(23): Show |
HNF4A | ENSG00000101076.20 | transcript | ENST00000316673.9 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |