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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HLTF_chr3_149025127_149091533 | 149028705 | ATTTTTTT others(4): Show |
A | downstream_gene_variant | MODIFIER | HG02886.hp1 | a0004 | a0004c0008 | a0004c0008t0017 | a0004c0008t0017g0026 | 1 | 404 | 0.0025 | -11 | c.*35 others(22): Show |
HLTF | ENSG00000071794.16 | transcript | ENST00000310053.10 | protein_coding | 1421 | chr3 | TogoVar | ||||||
HLTF_chr3_149025127_149091533 | 149057107 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02572.hp2 HG03239.hp1 others(1): Show |
a0005a0006 | a0005c0010a0006c0009 | a0005c0010t0007a0006c0009t0002 | a0005c0010t0007g0037a0005c0010t0007g0038a0005c0010t0007g0040others(1): Show | 4 | 404 | 0.0099 | -11 | c.137 others(30): Show |
HLTF | ENSG00000071794.16 | transcript | ENST00000310053.10 | protein_coding | 13/24 | chr3 | TogoVar | ||||||
HLTF_chr3_149025127_149091533 | 149079373 | TAAAAAAA others(4): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00735.hp1 HG01109.hp2 others(24): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0014a0001c0002t0003others(5): Show | a0001c0001t0001g0022a0001c0001t0001g0146a0001c0001t0001g0230others(23): Show | 27 | 404 | 0.0668 | -11 | c.229 others(28): Show |
HLTF | ENSG00000071794.16 | transcript | ENST00000310053.10 | protein_coding | 2/24 | chr3 | TogoVar | ||||||
HMBOX1_chr8_28885395_29058262 | 28915556 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(192): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0136a0001c0001t0001g0140a0001c0001t0001g0141others(192): Show | 195 | 344 | 0.5669 | -11 | 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 | 28960754 | TTTTTCTT others(4): Show |
T | intron_variant | MODIFIER | HG01123.hp1 HG01243.hp1 HG02145.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0257a0001c0001t0003g0298a0001c0001t0004g0063others(8): Show | 11 | 344 | 0.0320 | -11 | c.-57 others(28): Show |
HMBOX1 | ENSG00000147421.18 | transcript | ENST00000287701.15 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
HMBOX1_chr8_28885395_29058262 | 28973803 | GTTTTTTT others(4): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00639.hp2 others(79): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(5): Show | a0001c0001t0001g0136a0001c0001t0001g0140a0001c0001t0001g0141others(79): Show | 82 | 344 | 0.2384 | -11 | c.500 others(28): Show |
HMBOX1 | ENSG00000147421.18 | transcript | ENST00000287701.15 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
HMBOX1_chr8_28885395_29058262 | 28992869 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0228 | 1 | 344 | 0.0029 | -11 | c.586 others(30): Show |
HMBOX1 | ENSG00000147421.18 | transcript | ENST00000287701.15 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
HMBS_chr11_119079881_119098549 | 119085172 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 444 | 0.0023 | -11 | c.33+ others(24): Show |
HMBS | ENSG00000256269.11 | transcript | ENST00000652429.1 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
HMCN1_chr1_185729391_186195949 | 185803205 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
a0001a0005a0007others(6): Show | a0001c0001a0001c0027a0005c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0027t0002others(10): Show | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | 92 | 0.1848 | -11 | c.269 others(30): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HMCN1_chr1_185729391_186195949 | 185858586 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG01978.hp2 HG03139.hp2 NA21309.hp1 |
a0018a0021a0044 | a0018c0046a0021c0057a0044c0041 | a0018c0046t0001a0021c0057t0001a0044c0041t0001 | a0018c0046t0001g0059a0021c0057t0001g0019a0044c0041t0001g0060 | 3 | 92 | 0.0326 | -11 | c.340 others(28): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HMCN1_chr1_185729391_186195949 | 185866397 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG03139.hp2 | a0018 | a0018c0046 | a0018c0046t0001 | a0018c0046t0001g0059 | 1 | 92 | 0.0109 | -11 | c.621 others(26): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HMCN1_chr1_185729391_186195949 | 185980581 | ACTTCTAA others(4): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG03225.hp1 |
a0008 | a0008c0009 | a0008c0009t0001a0008c0009t0002 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | 92 | 0.0217 | -11 | c.256 others(28): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 16/106 | chr1 | TogoVar | ||||||
HMCN1_chr1_185729391_186195949 | 186032747 | AAAAAAAA others(4): Show |
A | intron_variant | MODIFIER | HG01516.hp2 | a0006 | a0006c0006 | a0006c0006t0005 | a0006c0006t0005g0080 | 1 | 92 | 0.0109 | -11 | c.575 others(30): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HMCN2_chr9_130260760_130439123 | 130315232 | CTCCCCTC others(4): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(47): Show |
a0002a0003a0004others(43): Show | a0002c0194a0003c0003a0003c0072others(46): Show | a0002c0194t0002a0003c0003t0001a0003c0072t0001others(46): Show | a0002c0194t0002g0168a0003c0003t0001g0054a0003c0072t0001g0092others(47): Show | 50 | 258 | 0.1938 | -11 | c.235 others(30): Show |
HMCN2 | ENSG00000148357.18 | transcript | ENST00000683500.2 | protein_coding | 15/97 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
HMCN2_chr9_130260760_130439123 | 130399250 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | NA21309.hp2 | a0141 | a0141c0162 | a0141c0162t0002 | a0141c0162t0002g0001 | 1 | 258 | 0.0039 | -11 | c.114 others(30): Show |
HMCN2 | ENSG00000148357.18 | transcript | ENST00000683500.2 | protein_coding | 75/97 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
HMG20A_chr15_77415888_77490603 | 77468165 | CAGTGAAT others(4): Show |
C | intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 366 | 0.0027 | -11 | c.450 others(26): Show |
HMG20A | ENSG00000140382.15 | transcript | ENST00000336216.9 | protein_coding | 4/9 | chr15 | TogoVar | ||||||
HMG20A_chr15_77415888_77490603 | 77476486 | GAAAAAAA others(4): Show |
G | intron_variant | MODIFIER | HG02280.hp1 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0140a0001c0001t0014g0141 | 2 | 366 | 0.0055 | -11 | c.616 others(28): Show |
HMG20A | ENSG00000140382.15 | transcript | ENST00000336216.9 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
HMG20B_chr19_3567944_3584083 | 3578926 | TTACCTGG others(4): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02615.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0022 | 2 | 406 | 0.0049 | -11 | c.*40 others(20): Show |
HMG20B | ENSG00000064961.19 | transcript | ENST00000333651.11 | protein_coding | 10/10 | 407 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
HMG20B_chr19_3567944_3584083 | 3579877 | CTTTTTTT others(4): Show |
C | downstream_gene_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 406 | 0.0025 | -11 | c.*13 others(22): Show |
HMG20B | ENSG00000064961.19 | transcript | ENST00000333651.11 | protein_coding | 795 | chr19 | TogoVar | ||||||
HMGA2_chr12_65819483_65971291 | 65875589 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG00673.hp1 HG00741.hp1 |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0028 | a0001c0001t0013g0153a0001c0001t0028g0231 | 2 | 236 | 0.0085 | -11 | c.249 others(30): Show |
HMGA2 | ENSG00000149948.14 | transcript | ENST00000403681.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
HMGB2_chr4_173326376_173339358 | 173334645 | CGGCGGGA others(4): Show |
C | upstream_gene_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 370 | 0.0027 | -11 | c.-40 others(20): Show |
HMGB2 | ENSG00000164104.12 | transcript | ENST00000296503.10 | protein_coding | 288 | chr4 | TogoVar | ||||||
HMGB3_chrX_150978335_150995771 | 150983399 | CCGCCGCC others(4): Show |
C | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 330 | 0.0030 | -11 | c.-6+ others(22): Show |
HMGB3 | ENSG00000029993.15 | transcript | ENST00000325307.12 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
HMGCLL1_chr6_55429373_55584192 | 55543451 | TGATATAT others(4): Show |
T | intron_variant | MODIFIER | HG03516.hp1 NA18950.hp2 NA18955.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0013 | a0001c0001t0001g0095a0001c0001t0002g0016a0001c0001t0002g0017others(4): Show | 7 | 334 | 0.0210 | -11 | c.109 others(28): Show |
HMGCLL1 | ENSG00000146151.14 | transcript | ENST00000274901.9 | protein_coding | 1/8 | chr6 | TogoVar | ||||||
HMGCL_chr1_23796885_23830429 | 23825731 | TCCAAAAA others(4): Show |
T | upstream_gene_variant | MODIFIER | HG00323.hp1 HG01884.hp1 HG02145.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0038a0001c0001t0001g0195others(6): Show | 12 | 372 | 0.0323 | -11 | c.-32 others(20): Show |
HMGCL | ENSG00000117305.15 | transcript | ENST00000374490.8 | protein_coding | 303 | chr1 | TogoVar | ||||||
HMGCL_chr1_23796885_23830429 | 23830144 | TATATATA others(4): Show |
T | upstream_gene_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0169 | 1 | 372 | 0.0027 | -11 | c.-47 others(22): Show |
HMGCL | ENSG00000117305.15 | transcript | ENST00000374490.8 | protein_coding | 4716 | chr1 | TogoVar | ||||||
HMGCS1_chr5_43282470_43318412 | 43298302 | ATCTGACT others(4): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01243.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0039a0001c0001t0002g0128a0001c0001t0003g0016others(12): Show | 22 | 312 | 0.0705 | -11 | c.449 others(26): Show |
HMGCS1 | ENSG00000112972.15 | transcript | ENST00000325110.11 | protein_coding | 3/10 | chr5 | TogoVar | ||||||
HMGCS2_chr1_119743002_119773905 | 119747709 | TCCTCCTC others(4): Show |
T | downstream_gene_variant | MODIFIER | HG02145.hp1 HG02572.hp1 HG02922.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0037a0001c0001t0006g0186 | 4 | 434 | 0.0092 | -11 | c.*11 others(22): Show |
HMGCS2 | ENSG00000134240.12 | transcript | ENST00000369406.8 | protein_coding | 292 | chr1 | TogoVar | ||||||
HMGCS2_chr1_119743002_119773905 | 119771164 | TTGCCTTC others(4): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(49): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(31): Show | 52 | 434 | 0.1198 | -11 | c.-23 others(22): Show |
HMGCS2 | ENSG00000134240.12 | transcript | ENST00000369406.8 | protein_coding | 2260 | chr1 | TogoVar | ||||||
HMGN2_chr1_26467440_26481642 | 26478576 | TATATATA others(4): Show |
T | downstream_gene_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 390 | 0.0026 | -11 | c.*34 others(22): Show |
HMGN2 | ENSG00000198830.12 | transcript | ENST00000361427.6 | protein_coding | 1935 | chr1 | TogoVar | ||||||
HMGN2_chr1_26467440_26481642 | 26478580 | TATATATA others(4): Show |
T | downstream_gene_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 390 | 0.0026 | -11 | c.*34 others(22): Show |
HMGN2 | ENSG00000198830.12 | transcript | ENST00000361427.6 | protein_coding | 1939 | chr1 | TogoVar | ||||||
HMGN3_chr6_79196245_79239682 | 79200894 | GTTTTTTT others(4): Show |
G | downstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0111 | 1 | 322 | 0.0031 | -11 | c.*78 others(20): Show |
HMGN3 | ENSG00000118418.16 | transcript | ENST00000620514.2 | protein_coding | 350 | chr6 | TogoVar | ||||||
HMGN4_chr6_26533366_26551933 | 26547413 | TTTAGTAG others(4): Show |
T | downstream_gene_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0020 | 1 | 396 | 0.0025 | -11 | c.*19 others(22): Show |
HMGN4 | ENSG00000182952.5 | transcript | ENST00000377575.3 | protein_coding | 481 | chr6 | TogoVar | ||||||
HMGN5_chrX_81108699_81206913 | 81148731 | ATCTGACA others(4): Show |
A | intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0071 | 1 | 225 | 0.0044 | -11 | c.-12 others(32): Show |
HMGN5 | ENSG00000198157.11 | transcript | ENST00000358130.7 | protein_coding | 1/6 | chrX | TogoVar | ||||||
HMGN5_chrX_81108699_81206913 | 81150996 | AGCTGATG others(4): Show |
A | intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0071 | 1 | 225 | 0.0044 | -11 | c.-12 others(32): Show |
HMGN5 | ENSG00000198157.11 | transcript | ENST00000358130.7 | protein_coding | 1/6 | chrX | TogoVar | ||||||
HMHB1_chr5_143807161_143825716 | 143820318 | TAAAAAAA others(4): Show |
T | intron_variant | MODIFIER | HG00621.hp1 HG01255.hp2 HG02896.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0009a0001c0001t0001g0039a0001c0001t0001g0075others(4): Show | 15 | 458 | 0.0328 | -11 | c.38- others(24): Show |
HMHB1 | ENSG00000158497.6 | transcript | ENST00000289448.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
HMHB1_chr5_143807161_143825716 | 143822590 | GAATTGAA others(4): Show |
G | downstream_gene_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 458 | 0.0022 | -11 | c.*20 others(22): Show |
HMHB1 | ENSG00000158497.6 | transcript | ENST00000289448.4 | protein_coding | 1875 | chr5 | TogoVar | ||||||
HMOX1_chr22_35376096_35399207 | 35379695 | TTTTTTTT others(4): Show |
T | upstream_gene_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 384 | 0.0026 | -11 | c.-14 others(22): Show |
HMOX1 | ENSG00000100292.18 | transcript | ENST00000216117.9 | protein_coding | 1400 | chr22 | TogoVar | ||||||
HMOX1_chr22_35376096_35399207 | 35395559 | ATTTTTTT others(4): Show |
A | downstream_gene_variant | MODIFIER | HG01516.hp1 HG01517.hp2 HG02257.hp1 others(2): Show |
a0001a0005 | a0001c0001a0001c0011a0005c0008 | a0001c0001t0001a0001c0011t0001a0005c0008t0001 | a0001c0001t0001g0207a0001c0001t0001g0240a0001c0001t0001g0343others(2): Show | 5 | 384 | 0.0130 | -11 | c.*19 others(22): Show |
HMOX1 | ENSG00000100292.18 | transcript | ENST00000216117.9 | protein_coding | 1353 | chr22 | TogoVar | ||||||
HMOX2_chr16_4471398_4515347 | 4479726 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(99): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0068a0001c0001t0001g0081a0001c0001t0001g0126others(81): Show | 102 | 313 | 0.3259 | -11 | c.-42 others(28): Show |
HMOX2 | ENSG00000103415.12 | transcript | ENST00000570646.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
HMOX2_chr16_4471398_4515347 | 4483163 | GTGTGTGT others(4): Show |
G | intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 313 | 0.0032 | -11 | c.-42 others(28): Show |
HMOX2 | ENSG00000103415.12 | transcript | ENST00000570646.6 | protein_coding | 1/5 | chr16 | TogoVar | ||||||
HMOX2_chr16_4471398_4515347 | 4483213 | GTGTGTGT others(4): Show |
G | intron_variant | MODIFIER | HG01496.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147a0001c0001t0001g0246 | 2 | 313 | 0.0064 | -11 | c.-42 others(28): Show |
HMOX2 | ENSG00000103415.12 | transcript | ENST00000570646.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
HMOX2_chr16_4471398_4515347 | 4514882 | AGGGCCAC others(4): Show |
A | downstream_gene_variant | MODIFIER | HG02896.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153a0001c0001t0001g0154 | 2 | 313 | 0.0064 | -11 | c.*51 others(22): Show |
HMOX2 | ENSG00000103415.12 | transcript | ENST00000570646.6 | protein_coding | 4536 | chr16 | TogoVar | ||||||
HNF1A_chr12_120973543_121007512 | 120975513 | GTTTTTTT others(4): Show |
G | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00621.hp1 HG00673.hp1 others(48): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0011others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0007a0001c0001t0001g0029a0001c0001t0001g0033others(44): Show | 51 | 410 | 0.1244 | -11 | c.-32 others(22): Show |
HNF1A | ENSG00000135100.19 | transcript | ENST00000257555.11 | protein_coding | 3029 | chr12 | TogoVar | ||||||
HNF1A_chr12_120973543_121007512 | 120988241 | CCATCCAT others(4): Show |
C | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0228 | 1 | 410 | 0.0024 | -11 | c.327 others(26): Show |
HNF1A | ENSG00000135100.19 | transcript | ENST00000257555.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
HNF1A_chr12_120973543_121007512 | 120991617 | TATGTATG others(4): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00609.hp2 HG00621.hp1 others(94): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0018others(4): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(7): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0027others(74): Show | 97 | 410 | 0.2366 | -11 | c.527 others(28): Show |
HNF1A | ENSG00000135100.19 | transcript | ENST00000257555.11 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
HNF1A_chr12_120973543_121007512 | 120994532 | TTATCACT others(4): Show |
T | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0181 | 1 | 410 | 0.0024 | -11 | c.955 others(26): Show |
HNF1A | ENSG00000135100.19 | transcript | ENST00000257555.11 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
HNF1B_chr17_37681431_37750059 | 37693189 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0355 | 1 | 409 | 0.0024 | -11 | c.165 others(30): Show |
HNF1B | ENSG00000275410.6 | transcript | ENST00000617811.5 | protein_coding | 8/8 | chr17 | TogoVar | ||||||
HNF4A_chr20_44350699_44437845 | 44385059 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0113 | 1 | 322 | 0.0031 | -11 | c.50- others(28): Show |
HNF4A | ENSG00000101076.20 | transcript | ENST00000316673.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
HNF4A_chr20_44350699_44437845 | 44387288 | TAAAAAAA others(4): Show |
T | intron_variant | MODIFIER | HG02818.hp2 NA18994.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0100 | a0001c0001t0002g0229a0001c0001t0100g0122 | 2 | 322 | 0.0062 | -11 | c.50- others(28): Show |
HNF4A | ENSG00000101076.20 | transcript | ENST00000316673.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
HNMT_chr2_137959473_138021364 | 137970934 | AAAGAAAG others(4): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02559.hp2 HG03041.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0249a0001c0001t0006g0047a0001c0001t0006g0048others(1): Show | 4 | 332 | 0.0121 | -11 | c.190 others(26): Show |
HNMT | ENSG00000150540.14 | transcript | ENST00000280097.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |