| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| GUCA1B_chr6_42178284_42199956 | 42196273 | T | TTTTTTCT others(4): Show |
upstream_gene_variant | MODIFIER | HG01256.hp1 HG02257.hp2 HG03130.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0032others(1): Show | 7 | 418 | 0.0168 | 11 | c.-14 others(22): Show |
GUCA1B | ENSG00000112599.9 | transcript | ENST00000230361.4 | protein_coding | 1318 | chr6 | TogoVar | ||||||
| GUCA1C_chr3_108902792_108958879 | 108934808 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00597.hp1 NA19043.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0079a0003c0003t0001g0344 | 2 | 374 | 0.0054 | 11 | c.205 others(30): Show |
GUCA1C | ENSG00000138472.11 | transcript | ENST00000261047.8 | protein_coding | 1/3 | chr3 | TogoVar | ||||||
| GUCA1C_chr3_108902792_108958879 | 108939324 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00642.hp2 HG00733.hp1 others(17): Show |
a0002a0003 | a0002c0004a0003c0003 | a0002c0004t0001a0003c0003t0001 | a0002c0004t0001g0357a0002c0004t0001g0365a0003c0003t0001g0004others(16): Show | 20 | 374 | 0.0535 | 11 | c.204 others(30): Show |
GUCA1C | ENSG00000138472.11 | transcript | ENST00000261047.8 | protein_coding | 1/3 | chr3 | TogoVar | ||||||
| GUCY1A2_chr11_106669019_107023476 | 106698119 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0113a0001c0001t0004g0174 | 2 | 256 | 0.0078 | 11 | c.199 others(32): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 7/7 | chr11 | TogoVar | ||||||
| GUCY1A2_chr11_106669019_107023476 | 106855894 | T | TTTCTTTT others(4): Show |
intron_variant | MODIFIER | HG02559.hp1 HG06807.hp2 NA20300.hp2 |
a0001 | a0001c0003 | a0001c0003t0004a0001c0003t0009a0001c0003t0050 | a0001c0003t0004g0247a0001c0003t0009g0249a0001c0003t0050g0250 | 3 | 256 | 0.0117 | 11 | c.120 others(32): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 4/7 | chr11 | TogoVar | ||||||
| GUCY1A2_chr11_106669019_107023476 | 106944215 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02886.hp2 HG02896.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0004a0001c0003t0004 | a0001c0001t0003g0062a0001c0001t0003g0083a0001c0001t0004g0065others(2): Show | 5 | 256 | 0.0195 | 11 | c.488 others(28): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 3/7 | chr11 | TogoVar | ||||||
| GULP1_chr2_188286874_188600926 | 188502187 | G | GGGACAGT others(4): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(136): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0047a0001c0001t0001g0049a0001c0001t0001g0052others(136): Show | 139 | 162 | 0.8580 | 11 | c.90+ others(28): Show |
GULP1 | ENSG00000144366.17 | transcript | ENST00000409830.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| GULP1_chr2_188286874_188600926 | 188525592 | T | TATGAAAT others(4): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01192.hp1 HG02451.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0014a0001c0001t0023 | a0001c0001t0008g0032a0001c0001t0008g0033a0001c0001t0008g0034others(6): Show | 9 | 162 | 0.0556 | 11 | c.162 others(28): Show |
GULP1 | ENSG00000144366.17 | transcript | ENST00000409830.6 | protein_coding | 5/11 | chr2 | TogoVar | ||||||
| GYG1_chr3_148986540_149036775 | 149012997 | T | TGTGTGTG others(4): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0053 | 1 | 414 | 0.0024 | 11 | c.608 others(28): Show |
GYG1 | ENSG00000163754.18 | transcript | ENST00000345003.9 | protein_coding | 5/7 | chr3 | TogoVar | ||||||
| GYG1_chr3_148986540_149036775 | 149036297 | G | GTTTTTTT others(4): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00423.hp1 others(107): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(15): Show | a0001c0001t0002g0003a0001c0001t0002g0007a0001c0001t0002g0010others(95): Show | 110 | 414 | 0.2657 | 11 | c.*93 others(22): Show |
GYG1 | ENSG00000163754.18 | transcript | ENST00000345003.9 | protein_coding | 4523 | chr3 | TogoVar | ||||||
| GYG2_chrX_2823930_2887818 | 2838452 | C | CCCTTCCT others(4): Show |
intron_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0303 | 1 | 316 | 0.0032 | 11 | c.8-4 others(24): Show |
GYG2 | ENSG00000056998.21 | transcript | ENST00000398806.8 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| GYG2_chrX_2823930_2887818 | 2846056 | T | TATATATA others(4): Show |
intron_variant | MODIFIER | HG00741.hp2 HG03831.hp1 |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0008a0002c0005t0006 | a0001c0001t0008g0064a0002c0005t0006g0104 | 2 | 316 | 0.0063 | 11 | c.149 others(28): Show |
GYG2 | ENSG00000056998.21 | transcript | ENST00000398806.8 | protein_coding | 3/10 | chrX | TogoVar | ||||||
| GYG2_chrX_2823930_2887818 | 2856799 | C | CATCTATC others(4): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00423.hp1 others(67): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(19): Show | a0001c0001t0001g0005a0001c0001t0001g0289a0001c0001t0001g0293others(66): Show | 70 | 316 | 0.2215 | 11 | c.614 others(26): Show |
GYG2 | ENSG00000056998.21 | transcript | ENST00000398806.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| GYS1_chr19_48963130_48998309 | 48979336 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02615.hp1 HG02630.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0102a0001c0001t0001g0200a0001c0002t0001g0169others(1): Show | 4 | 390 | 0.0103 | 11 | c.117 others(30): Show |
GYS1 | ENSG00000104812.15 | transcript | ENST00000323798.8 | protein_coding | 8/15 | chr19 | TogoVar | ||||||
| GYS2_chr12_21531107_21609847 | 21549044 | T | TATTAATA others(4): Show |
intron_variant | MODIFIER | HG02735.hp1 HG03710.hp1 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0147a0001c0001t0002g0168a0001c0001t0002g0181 | 3 | 312 | 0.0096 | 11 | c.142 others(30): Show |
GYS2 | ENSG00000111713.3 | transcript | ENST00000261195.3 | protein_coding | 11/15 | chr12 | TogoVar | ||||||
| GYS2_chr12_21531107_21609847 | 21604045 | T | TGTCCCCC others(4): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0282 | 1 | 312 | 0.0032 | 11 | c.121 others(26): Show |
GYS2 | ENSG00000111713.3 | transcript | ENST00000261195.3 | protein_coding | 1/15 | chr12 | TogoVar | ||||||
| GZMB_chr14_24625954_24639190 | 24627425 | C | CAAAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | HG03540.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0010 | 1 | 450 | 0.0022 | 11 | c.*36 others(22): Show |
GZMB | ENSG00000100453.14 | transcript | ENST00000216341.9 | protein_coding | 3528 | chr14 | TogoVar | ||||||
| GZMK_chr5_55019256_55039570 | 55029575 | T | TTTGTTTG others(4): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 464 | 0.0022 | 11 | c.213 others(26): Show |
GZMK | ENSG00000113088.6 | transcript | ENST00000231009.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| H1-8_chr3_129538175_129556467 | 129543425 | C | CCACCCAG others(4): Show |
intron_variant | MODIFIER | HG01074.hp2 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116a0001c0001t0001g0117 | 2 | 422 | 0.0047 | 11 | c.88+ others(24): Show |
H1-8 | ENSG00000178804.8 | transcript | ENST00000324382.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| H1-8_chr3_129538175_129556467 | 129543447 | T | TCACCCAG others(4): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00621.hp2 HG01168.hp2 others(31): Show |
a0001a0004a0005 | a0001c0001a0001c0003a0001c0012others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0012t0001others(3): Show | a0001c0001t0001g0030a0001c0001t0001g0105a0001c0003t0001g0006others(14): Show | 34 | 422 | 0.0806 | 11 | c.88+ others(24): Show |
H1-8 | ENSG00000178804.8 | transcript | ENST00000324382.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| H2AB1_chrX_154879972_154890558 | 154888380 | A | ATTTTTTT others(4): Show |
downstream_gene_variant | MODIFIER | NA20752.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 1 | 318 | 0.0031 | 11 | c.*29 others(22): Show |
H2AB1 | ENSG00000274183.2 | transcript | ENST00000620016.2 | protein_coding | 2823 | chrX | TogoVar | ||||||
| H2AB2_chrX_155375709_155386299 | 155384120 | A | ATTTTTTT others(4): Show |
downstream_gene_variant | MODIFIER | HG00733.hp1 HG00733.hp2 HG01496.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0000a0003c0003t0001g0000 | 6 | 229 | 0.0262 | 11 | c.*29 others(22): Show |
H2AB2 | ENSG00000277858.2 | transcript | ENST00000354514.6 | protein_coding | 2822 | chrX | TogoVar | ||||||
| H2AB3_chrX_155454415_155465005 | 155456569 | G | GAAAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | HG02040.hp1 HG02258.hp1 HG02886.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 9 | 214 | 0.0421 | 11 | c.*30 others(22): Show |
H2AB3 | ENSG00000277745.1 | transcript | ENST00000615853.1 | protein_coding | 2845 | chrX | TogoVar | ||||||
| H2AC12_chr6_27142106_27152562 | 27142462 | A | ACAGGGTT others(4): Show |
upstream_gene_variant | MODIFIER | HG01255.hp2 HG01891.hp2 HG02572.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 382 | 0.0079 | 11 | c.-46 others(22): Show |
H2AC12 | ENSG00000274997.2 | transcript | ENST00000377459.3 | protein_coding | 4643 | chr6 | TogoVar | ||||||
| H2AC18_chr1_149837218_149847750 | 149838393 | A | ACACACAC others(4): Show |
downstream_gene_variant | MODIFIER | HG00738.hp1 NA18973.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 320 | 0.0063 | 11 | c.*39 others(22): Show |
H2AC18 | ENSG00000288825.1 | transcript | ENST00000369159.3 | protein_coding | 3824 | chr1 | TogoVar | ||||||
| H2AC19_chr1_149846061_149856594 | 149855424 | T | TGTGTGTG others(4): Show |
downstream_gene_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 328 | 0.0031 | 11 | c.*39 others(22): Show |
H2AC19 | ENSG00000288859.1 | transcript | ENST00000607355.3 | protein_coding | 3831 | chr1 | TogoVar | ||||||
| H2AC4_chr6_26028092_26038618 | 26031178 | A | ATATATAT others(4): Show |
downstream_gene_variant | MODIFIER | HG02738.hp1 HG03704.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0000 | 2 | 406 | 0.0049 | 11 | c.*19 others(22): Show |
H2AC4 | ENSG00000278463.2 | transcript | ENST00000615868.2 | protein_coding | 1913 | chr6 | TogoVar | ||||||
| H2BC12_chr6_27141361_27151855 | 27142462 | A | ACAGGGTT others(4): Show |
downstream_gene_variant | MODIFIER | HG01255.hp1 HG01891.hp1 HG02572.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 384 | 0.0078 | 11 | c.*39 others(22): Show |
H2BC12 | ENSG00000197903.8 | transcript | ENST00000356950.2 | protein_coding | 3898 | chr6 | TogoVar | ||||||
| H3-3B_chr17_75771434_75784779 | 75782239 | A | ATTTTTTT others(4): Show |
upstream_gene_variant | MODIFIER | HG00738.hp1 HG02055.hp1 HG02717.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011 | a0001c0001t0003g0004a0001c0001t0003g0006a0001c0001t0011g0013 | 6 | 432 | 0.0139 | 11 | c.-26 others(22): Show |
H3-3B | ENSG00000132475.10 | transcript | ENST00000254810.8 | protein_coding | 2461 | chr17 | TogoVar | ||||||
| H3C11_chr6_27866845_27877346 | 27875500 | A | ATTTTTTT others(4): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 HG02897.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0000a0001c0002t0001g0000 | 2 | 374 | 0.0054 | 11 | c.-31 others(22): Show |
H3C11 | ENSG00000275379.2 | transcript | ENST00000616365.2 | protein_coding | 3155 | chr6 | TogoVar | ||||||
| H3C11_chr6_27866845_27877346 | 27876576 | T | TAAAAAAA others(4): Show |
upstream_gene_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 374 | 0.0027 | 11 | c.-42 others(22): Show |
H3C11 | ENSG00000275379.2 | transcript | ENST00000616365.2 | protein_coding | 4231 | chr6 | TogoVar | ||||||
| H3C14_chr1_149835687_149846208 | 149838393 | A | ACACACAC others(4): Show |
downstream_gene_variant | MODIFIER | HG00738.hp1 NA18973.hp2 NA19081.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 302 | 0.0099 | 11 | c.*23 others(22): Show |
H3C14 | ENSG00000203811.2 | transcript | ENST00000369158.2 | protein_coding | 2293 | chr1 | TogoVar | ||||||
| H3C15_chr1_149847608_149858125 | 149855424 | T | TGTGTGTG others(4): Show |
downstream_gene_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 332 | 0.0030 | 11 | c.*23 others(22): Show |
H3C15 | ENSG00000203852.4 | transcript | ENST00000403683.2 | protein_coding | 2300 | chr1 | TogoVar | ||||||
| H3C2_chr6_26026589_26037099 | 26031178 | A | ATATATAT others(4): Show |
downstream_gene_variant | MODIFIER | HG02738.hp1 HG03704.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 396 | 0.0051 | 11 | c.*47 others(20): Show |
H3C2 | ENSG00000286522.2 | transcript | ENST00000621411.3 | protein_coding | 410 | chr6 | TogoVar | ||||||
| H3C8_chr6_26265918_26276413 | 26266604 | C | CAAAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG00597.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 26 | 398 | 0.0653 | 11 | c.*43 others(22): Show |
H3C8 | ENSG00000273983.2 | transcript | ENST00000614378.2 | protein_coding | 4313 | chr6 | TogoVar | ||||||
| H3Y1_chr5_17649868_17660849 | 17652022 | C | CCCCCCTC others(4): Show |
downstream_gene_variant | MODIFIER | HG02056.hp2 HG03669.hp2 NA18962.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 5 | 376 | 0.0133 | 11 | c.*31 others(22): Show |
H3Y1 | ENSG00000269466.4 | transcript | ENST00000598383.3 | protein_coding | 2845 | chr5 | TogoVar | ||||||
| H3Y1_chr5_17649868_17660849 | 17652027 | T | TCCCTTCC others(4): Show |
downstream_gene_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 376 | 0.0027 | 11 | c.*31 others(22): Show |
H3Y1 | ENSG00000269466.4 | transcript | ENST00000598383.3 | protein_coding | 2840 | chr5 | TogoVar | ||||||
| H3Y1_chr5_17649868_17660849 | 17652032 | T | TCCCCTCC others(4): Show |
downstream_gene_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 376 | 0.0027 | 11 | c.*30 others(22): Show |
H3Y1 | ENSG00000269466.4 | transcript | ENST00000598383.3 | protein_coding | 2835 | chr5 | TogoVar | ||||||
| H4C13_chr6_27868148_27878534 | 27875500 | A | ATTTTTTT others(4): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 384 | 0.0052 | 11 | c.-19 others(22): Show |
H4C13 | ENSG00000275126.2 | transcript | ENST00000618305.2 | protein_coding | 1967 | chr6 | TogoVar | ||||||
| H4C13_chr6_27868148_27878534 | 27876576 | T | TAAAAAAA others(4): Show |
upstream_gene_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 384 | 0.0026 | 11 | c.-30 others(22): Show |
H4C13 | ENSG00000275126.2 | transcript | ENST00000618305.2 | protein_coding | 3043 | chr6 | TogoVar | ||||||
| H4C15_chr1_149855764_149866159 | 149865967 | A | AAAGAAAG others(4): Show |
upstream_gene_variant | MODIFIER | HG01192.hp1 HG01261.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 206 | 0.0097 | 11 | c.-48 others(22): Show |
H4C15 | ENSG00000270276.3 | transcript | ENST00000579512.3 | protein_coding | 4809 | chr1 | TogoVar | ||||||
| H4C2_chr6_26021896_26032283 | 26031178 | A | ATATATAT others(4): Show |
upstream_gene_variant | MODIFIER | HG02738.hp1 HG03704.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 400 | 0.0050 | 11 | c.-39 others(22): Show |
H4C2 | ENSG00000278705.3 | transcript | ENST00000377745.5 | protein_coding | 3896 | chr6 | TogoVar | ||||||
| H4C5_chr6_26199610_26210021 | 26207352 | A | AGGGGCAG others(4): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 408 | 0.0025 | 11 | c.*23 others(22): Show |
H4C5 | ENSG00000276966.3 | transcript | ENST00000615164.3 | protein_coding | 2332 | chr6 | TogoVar | ||||||
| H4C9_chr6_27134282_27144678 | 27142462 | A | ACAGGGTT others(4): Show |
downstream_gene_variant | MODIFIER | HG01255.hp2 HG01891.hp1 HG02572.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 3 | 392 | 0.0077 | 11 | c.*28 others(22): Show |
H4C9 | ENSG00000276180.2 | transcript | ENST00000615353.2 | protein_coding | 2785 | chr6 | TogoVar | ||||||
| H6PD_chr1_9229774_9276337 | 9234707 | G | GCGCCCCC others(4): Show |
upstream_gene_variant | MODIFIER | NA18998.hp1 | a0003 | a0003c0007 | a0003c0007t0003 | a0003c0007t0003g0195 | 1 | 404 | 0.0025 | 11 | c.-37 others(20): Show |
H6PD | ENSG00000049239.13 | transcript | ENST00000377403.7 | protein_coding | 66 | chr1 | TogoVar | ||||||
| H6PD_chr1_9229774_9276337 | 9237236 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG03704.hp2 NA18941.hp2 NA18942.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0004a0002c0002t0024a0002c0002t0112 | a0002c0002t0004g0028a0002c0002t0004g0097a0002c0002t0024g0028others(1): Show | 4 | 404 | 0.0099 | 11 | c.-11 others(28): Show |
H6PD | ENSG00000049239.13 | transcript | ENST00000377403.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| HAAO_chr2_42762089_42797583 | 42765676 | C | CAAAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | HG03041.hp1 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211a0001c0001t0001g0294 | 2 | 410 | 0.0049 | 11 | c.*17 others(22): Show |
HAAO | ENSG00000162882.15 | transcript | ENST00000294973.11 | protein_coding | 1412 | chr2 | TogoVar | ||||||
| HAAO_chr2_42762089_42797583 | 42765686 | A | AAAAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG00642.hp1 others(90): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0015a0001c0001t0001g0018a0001c0001t0001g0097others(89): Show | 93 | 410 | 0.2268 | 11 | c.*17 others(22): Show |
HAAO | ENSG00000162882.15 | transcript | ENST00000294973.11 | protein_coding | 1402 | chr2 | TogoVar | ||||||
| HAAO_chr2_42762089_42797583 | 42765689 | A | AAAAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 410 | 0.0024 | 11 | c.*17 others(22): Show |
HAAO | ENSG00000162882.15 | transcript | ENST00000294973.11 | protein_coding | 1399 | chr2 | TogoVar | ||||||
| HAAO_chr2_42762089_42797583 | 42765691 | A | AAAAAACA others(4): Show |
downstream_gene_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 410 | 0.0024 | 11 | c.*17 others(22): Show |
HAAO | ENSG00000162882.15 | transcript | ENST00000294973.11 | protein_coding | 1397 | chr2 | TogoVar |