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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GYS1_chr19_48963130_48998309 | 48979336 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 52 | 0.0192 | -21 | c.117 others(40): Show |
GYS1 | ENSG00000104812.15 | transcript | ENST00000323798.8 | protein_coding | 8/15 | chr19 | TogoVar | |||||||
GZF1_chr20_23357182_23378062 | 23365273 | CGGAGGAG others(14): Show |
C | disruptive_inframe_deletion | MODERATE | HG02145.hp1 | a0006 | a0006c0012 | a0006c0012t0006 | a0006c0012t0006g0026 | 1 | 426 | 0.0023 | -21 | c.900 others(28): Show |
p.Glu others(13): Show |
GZF1 | ENSG00000125812.16 | transcript | ENST00000338121.10 | protein_coding | 2/6 | 977/4834 | 900/2136 | 300/711 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||
H1-8_chr3_129538175_129556467 | 129540497 | TATATATA others(14): Show |
T | upstream_gene_variant | MODIFIER | NA19063.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0003 | 1 | 413 | 0.0024 | -21 | c.-27 others(32): Show |
H1-8 | ENSG00000178804.8 | transcript | ENST00000324382.7 | protein_coding | 2677 | chr3 | TogoVar | |||||||
H4C15_chr1_149855764_149866159 | 149865941 | AAAAAAAA others(14): Show |
A | upstream_gene_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 205 | 0.0049 | -21 | c.-48 others(32): Show |
H4C15 | ENSG00000270276.3 | transcript | ENST00000579512.3 | protein_coding | 4783 | chr1 | TogoVar | |||||||
H4C15_chr1_149855764_149866159 | 149865953 | AAGAAGAA others(14): Show |
A | upstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 205 | 0.0049 | -21 | c.-48 others(32): Show |
H4C15 | ENSG00000270276.3 | transcript | ENST00000579512.3 | protein_coding | 4795 | chr1 | TogoVar | |||||||
HACD3_chr15_65525463_65583349 | 65537943 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG01109.hp2 | a0003 | a0003c0004 | a0003c0004t0019 | a0003c0004t0019g0038 | 1 | 326 | 0.0031 | -21 | c.87+ others(36): Show |
HACD3 | ENSG00000074696.13 | transcript | ENST00000261875.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
HACD3_chr15_65525463_65583349 | 65537945 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG02717.hp2 NA19056.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0105 a0001c0001t0002g0221 |
2 | 325 | 0.0062 | -21 | c.87+ others(36): Show |
HACD3 | ENSG00000074696.13 | transcript | ENST00000261875.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
HACD3_chr15_65525463_65583349 | 65537947 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG04184.hp1 NA18968.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 a0001c0001t0001g0078 |
2 | 304 | 0.0066 | -21 | c.87+ others(36): Show |
HACD3 | ENSG00000074696.13 | transcript | ENST00000261875.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
HACD3_chr15_65525463_65583349 | 65537949 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | NA19087.hp1 NA19087.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0093 |
2 | 250 | 0.0080 | -21 | c.87+ others(36): Show |
HACD3 | ENSG00000074696.13 | transcript | ENST00000261875.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
HACD3_chr15_65525463_65583349 | 65537953 | AAAAAAAT others(14): Show |
A | intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004 | 1 | 302 | 0.0033 | -21 | c.87+ others(36): Show |
HACD3 | ENSG00000074696.13 | transcript | ENST00000261875.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
HAGH_chr16_1802629_1831825 | 1820036 | TGGGCTGC others(14): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(256): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0013 others(155): Show |
259 | 430 | 0.6023 | -21 | c.315 others(34): Show |
HAGH | ENSG00000063854.13 | transcript | ENST00000397356.8 | protein_coding | 3/8 | chr16 | TogoVar | |||||||
HAO1_chr20_7877985_7945458 | 7903858 | CGGTGGTG others(14): Show |
C | intron_variant | MODIFIER | NA18943.hp1 NA19002.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0041 a0001c0001t0002g0171 |
2 | 175 | 0.0114 | -21 | c.721 others(38): Show |
HAO1 | ENSG00000101323.5 | transcript | ENST00000378789.4 | protein_coding | 4/7 | chr20 | TogoVar | |||||||
HAPLN1_chr5_83632805_83725855 | 83663880 | TCTCACCT others(14): Show |
T | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0238 | 1 | 370 | 0.0027 | -21 | c.100 others(38): Show |
HAPLN1 | ENSG00000145681.11 | transcript | ENST00000274341.9 | protein_coding | 2/4 | chr5 | TogoVar | |||||||
HAT1_chr2_171917461_171988686 | 171970496 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG02559.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 a0001c0001t0001g0225 |
2 | 8 | 0.2500 | -21 | c.823 others(38): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HAUS2_chr15_42543838_42574994 | 42556520 | CTCCAAAG others(14): Show |
C | intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 348 | 0.0029 | -21 | c.94- others(36): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
HAUS8_chr19_17044729_17080452 | 17055142 | AAATATAT others(14): Show |
A | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0231 | 1 | 374 | 0.0027 | -21 | c.787 others(36): Show |
HAUS8 | ENSG00000131351.15 | transcript | ENST00000253669.10 | protein_coding | 9/10 | chr19 | TogoVar | |||||||
HAUS8_chr19_17044729_17080452 | 17055144 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0200 | 1 | 319 | 0.0031 | -21 | c.787 others(36): Show |
HAUS8 | ENSG00000131351.15 | transcript | ENST00000253669.10 | protein_coding | 9/10 | chr19 | TogoVar | |||||||
HAVCR1_chr5_157024413_157064116 | 157044395 | AGGAAGGA others(14): Show |
A | intron_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 349 | 0.0029 | -21 | c.782 others(38): Show |
HAVCR1 | ENSG00000113249.14 | transcript | ENST00000523175.6 | protein_coding | 5/8 | chr5 | TogoVar | |||||||
HAVCR1_chr5_157024413_157064116 | 157044397 | GAAGGAAG others(14): Show |
G | intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 342 | 0.0029 | -21 | c.782 others(38): Show |
HAVCR1 | ENSG00000113249.14 | transcript | ENST00000523175.6 | protein_coding | 5/8 | chr5 | TogoVar | |||||||
HAVCR2_chr5_157080832_157114044 | 157092878 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG03942.hp1 NA20129.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0116 a0002c0002t0002g0276 |
2 | 45 | 0.0444 | -21 | c.676 others(38): Show |
HAVCR2 | ENSG00000135077.10 | transcript | ENST00000307851.9 | protein_coding | 5/6 | chr5 | TogoVar | |||||||
HBA1_chr16_171680_182522 | 182398 | GAGTGAGA others(14): Show |
G | downstream_gene_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 396 | 0.0025 | -21 | c.*49 others(32): Show |
HBA1 | ENSG00000206172.8 | transcript | ENST00000320868.9 | protein_coding | 4877 | chr16 | TogoVar | |||||||
HBS1L_chr6_134955378_135059822 | 135035750 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG02280.hp2 NA19000.hp1 |
a0001 | a0001c0002a0001c0007 | a0001c0002t0004a0001c0007t0028 | a0001c0002t0004g0198 a0001c0007t0028g0305 |
2 | 19 | 0.1053 | -21 | c.430 others(38): Show |
HBS1L | ENSG00000112339.15 | transcript | ENST00000367837.10 | protein_coding | 4/17 | chr6 | TogoVar | |||||||
HCK_chr20_32047242_32106856 | 32054475 | TAAAAAAA others(14): Show |
T | intron_variant | MODIFIER | HG01361.hp1 HG01884.hp2 HG02055.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0036 a0001c0001t0001g0042 a0001c0002t0001g0038 others(2): Show |
5 | 36 | 0.1389 | -21 | c.62+ others(36): Show |
HCK | ENSG00000101336.18 | transcript | ENST00000375852.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
HCN1_chr5_45249948_45701380 | 45431990 | TACAAATA others(14): Show |
T | intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0045 | 1 | 224 | 0.0045 | -21 | c.101 others(42): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 3/7 | chr5 | TogoVar | |||||||
HCN2_chr19_584881_622159 | 613506 | GCGCCTGG others(14): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG01070.hp1 others(18): Show |
a0001a0002a0006others(3): Show | a0001c0015a0001c0034a0001c0041others(10): Show | a0001c0015t0005a0001c0034t0005a0001c0041t0001others(12): Show | a0001c0015t0005g0007 a0001c0015t0005g0148 a0001c0034t0005g0035 others(16): Show |
21 | 406 | 0.0517 | -21 | c.182 others(36): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HCN2_chr19_584881_622159 | 620999 | CGCCGGGG others(14): Show |
C | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00597.hp2 others(68): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(36): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(52): Show | a0001c0001t0001g0152 a0001c0001t0001g0189 a0001c0001t0002g0016 others(67): Show |
71 | 406 | 0.1749 | -21 | c.*45 others(32): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 3841 | chr19 | TogoVar | |||||||
HCN3_chr1_155272463_155294848 | 155290989 | AAATAATA others(14): Show |
A | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG02630.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0010 | a0001c0001t0005g0025 a0001c0001t0005g0043 a0001c0001t0005g0051 others(3): Show |
7 | 31 | 0.2258 | -21 | c.*25 others(32): Show |
HCN3 | ENSG00000143630.10 | transcript | ENST00000368358.4 | protein_coding | 1142 | chr1 | TogoVar | |||||||
HDAC4_chr2_239043168_239406020 | 239155413 | TATGGCCC others(14): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00673.hp2 HG02015.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0017others(8): Show | a0001c0001t0001g0114 a0001c0001t0006g0188 a0001c0001t0006g0227 others(9): Show |
12 | 240 | 0.0500 | -21 | c.733 others(38): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 7/26 | chr2 | TogoVar | |||||||
HDAC4_chr2_239043168_239406020 | 239357888 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG02818.hp1 HG02976.hp2 NA19030.hp1 others(1): Show |
a0001 | a0001c0001a0001c0004a0001c0035 | a0001c0001t0001a0001c0001t0004a0001c0004t0062others(1): Show | a0001c0001t0001g0231 a0001c0001t0004g0232 a0001c0004t0062g0077 others(1): Show |
4 | 112 | 0.0357 | -21 | c.-21 others(40): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 1/26 | chr2 | TogoVar | |||||||
HDAC5_chr17_44071753_44128641 | 44096583 | CCTGCCTC others(14): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02258.hp2 HG02280.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0003a0003c0003t0006 | a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0003g0237 others(4): Show |
7 | 294 | 0.0238 | -21 | c.95- others(36): Show |
HDAC5 | ENSG00000108840.16 | transcript | ENST00000682912.1 | protein_coding | 3/26 | chr17 | TogoVar | |||||||
HDC_chr15_50236947_50270726 | 50240886 | CAAAAAAA others(14): Show |
C | downstream_gene_variant | MODIFIER | HG03017.hp2 HG03704.hp2 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0106 |
3 | 19 | 0.1579 | -21 | c.*13 others(32): Show |
HDC | ENSG00000140287.11 | transcript | ENST00000267845.8 | protein_coding | 1060 | chr15 | TogoVar | |||||||
HDDC2_chr6_125270350_125306967 | 125278351 | TTCACAAA others(14): Show |
T | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 372 | 0.0027 | -21 | c.379 others(38): Show |
HDDC2 | ENSG00000111906.18 | transcript | ENST00000398153.7 | protein_coding | 4/5 | chr6 | TogoVar | |||||||
HEATR4_chr14_73473484_73563947 | 73477065 | TATATATA others(14): Show |
T | downstream_gene_variant | MODIFIER | HG02109.hp2 | a0013 | a0013c0036 | a0013c0036t0005 | a0013c0036t0005g0036 | 1 | 366 | 0.0027 | -21 | c.*15 others(32): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 1418 | chr14 | TogoVar | |||||||
HEATR4_chr14_73473484_73563947 | 73477082 | ATATATAT others(14): Show |
A | downstream_gene_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0338 | 1 | 348 | 0.0029 | -21 | c.*15 others(32): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 1401 | chr14 | TogoVar | |||||||
HEATR4_chr14_73473484_73563947 | 73477084 | ATATATAT others(14): Show |
A | downstream_gene_variant | MODIFIER | NA18939.hp1 NA19067.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0285 a0001c0002t0002g0305 |
2 | 362 | 0.0055 | -21 | c.*15 others(32): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 1399 | chr14 | TogoVar | |||||||
HEATR4_chr14_73473484_73563947 | 73477086 | ATATATAT others(14): Show |
A | downstream_gene_variant | MODIFIER | NA18957.hp1 NA18973.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003 | a0001c0002t0002g0291 a0001c0002t0003g0248 |
2 | 359 | 0.0056 | -21 | c.*14 others(32): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 1397 | chr14 | TogoVar | |||||||
HEATR4_chr14_73473484_73563947 | 73535469 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 |
a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0348 a0001c0006t0003g0349 |
2 | 306 | 0.0065 | -21 | c.-15 others(40): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 1/17 | chr14 | TogoVar | |||||||
HEATR5B_chr2_36975895_37089372 | 36978081 | AAAAAAAA others(14): Show |
A | downstream_gene_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0181 | 1 | 312 | 0.0032 | -21 | c.*33 others(32): Show |
HEATR5B | ENSG00000008869.12 | transcript | ENST00000233099.6 | protein_coding | 2813 | chr2 | TogoVar | |||||||
HECW1_chr7_43107647_43571001 | 43488351 | GAAGGAAG others(14): Show |
G | intron_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0145 | 1 | 180 | 0.0056 | -21 | c.323 others(40): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 17/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HECW1_chr7_43107647_43571001 | 43566615 | TTTATTAT others(14): Show |
T | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02280.hp1 HG02630.hp1 others(1): Show |
a0003 | a0003c0008a0003c0028 | a0003c0008t0010a0003c0008t0035a0003c0028t0010 | a0003c0008t0010g0003 a0003c0008t0010g0081 a0003c0008t0035g0016 others(1): Show |
4 | 49 | 0.0816 | -21 | c.*46 others(32): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 615 | chr7 | TogoVar | |||||||
HECW2_chr2_196189072_196598554 | 196273049 | ATTTTTTT others(14): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02109.hp1 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0005a0001c0001t0009a0001c0001t0017others(17): Show | a0001c0001t0005g0079 a0001c0001t0009g0016 a0001c0001t0017g0111 others(19): Show |
22 | 23 | 0.9565 | -21 | c.323 others(38): Show |
HECW2 | ENSG00000138411.13 | transcript | ENST00000644978.2 | protein_coding | 16/28 | chr2 | TogoVar | |||||||
HECW2_chr2_196189072_196598554 | 196589073 | CCTGTAAT others(14): Show |
C | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0011 | a0001c0011t0003 | a0001c0011t0003g0001 | 1 | 110 | 0.0091 | -21 | c.-36 others(38): Show |
HECW2 | ENSG00000138411.13 | transcript | ENST00000644978.2 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
HELB_chr12_66297493_66343199 | 66314213 | GTTAGTTG others(14): Show |
G | intron_variant | MODIFIER | HG01255.hp2 HG01358.hp1 HG01361.hp2 others(29): Show |
a0002a0004a0023others(2): Show | a0002c0001a0004c0004a0023c0041others(2): Show | a0002c0001t0002a0004c0004t0001a0023c0041t0002others(2): Show | a0002c0001t0002g0037 a0002c0001t0002g0038 a0002c0001t0002g0039 others(26): Show |
32 | 388 | 0.0825 | -21 | c.185 others(36): Show |
HELB | ENSG00000127311.10 | transcript | ENST00000247815.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
HELT_chr4_185013490_185025953 | 185023058 | TCTCTCTC others(14): Show |
T | downstream_gene_variant | MODIFIER | HG00733.hp2 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 2 | 452 | 0.0044 | -21 | c.*22 others(32): Show |
HELT | ENSG00000187821.9 | transcript | ENST00000515777.6 | protein_coding | 2106 | chr4 | TogoVar | |||||||
HELZ2_chr20_63553086_63579239 | 63559698 | GAGTCAGG others(14): Show |
G | intron_variant | MODIFIER | HG01346.hp1 HG01361.hp1 NA18952.hp2 others(1): Show |
a0001a0004 | a0001c0001a0004c0004a0004c0129 | a0001c0001t0019a0004c0004t0015a0004c0129t0044 | a0001c0001t0019g0021 a0004c0004t0015g0093 a0004c0129t0044g0087 |
4 | 388 | 0.0103 | -21 | c.782 others(38): Show |
HELZ2 | ENSG00000130589.16 | transcript | ENST00000467148.2 | protein_coding | 19/19 | chr20 | TogoVar | |||||||
HEPHL1_chr11_94016354_94119208 | 94023968 | GAAGATGC others(14): Show |
G | intron_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0254 | 1 | 366 | 0.0027 | -21 | c.170 others(38): Show |
HEPHL1 | ENSG00000181333.12 | transcript | ENST00000315765.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HERC1_chr15_63603618_63838948 | 63737493 | TACATATA others(14): Show |
T | intron_variant | MODIFIER | HG02683.hp1 HG03490.hp1 |
a0002 | a0002c0003a0002c0028 | a0002c0003t0002a0002c0028t0002 | a0002c0003t0002g0068 a0002c0028t0002g0074 |
2 | 206 | 0.0097 | -21 | c.252 others(40): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 12/77 | chr15 | TogoVar | |||||||
HERC2_chr15_28106040_28327179 | 28289952 | CACACACC others(14): Show |
C | intron_variant | MODIFIER | HG06807.hp2 | a0025 | a0025c0035 | a0025c0035t0002 | a0025c0035t0002g0019 | 1 | 248 | 0.0040 | -21 | c.322 others(38): Show |
HERC2 | ENSG00000128731.18 | transcript | ENST00000261609.13 | protein_coding | 4/92 | chr15 | TogoVar | |||||||
HERC6_chr4_88373852_88448097 | 88380353 | AATATATA others(14): Show |
A | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 NA18522.hp1 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0145 a0001c0001t0001g0146 a0004c0004t0001g0144 |
3 | 137 | 0.0219 | -21 | c.199 others(38): Show |
HERC6 | ENSG00000138642.16 | transcript | ENST00000264346.12 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HES7_chr17_8115592_8129106 | 8126678 | GCTCCCTT others(14): Show |
G | upstream_gene_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0008 | 1 | 444 | 0.0023 | -21 | c.-26 others(32): Show |
HES7 | ENSG00000179111.9 | transcript | ENST00000541682.7 | protein_coding | 2573 | chr17 | TogoVar |