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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GULP1_chr2_188286874_188600926 | 188499133 | GTGTATAT others(7): Show |
G | intron_variant | MODIFIER | NA19065.hp2 NA19088.hp2 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0083a0001c0001t0014g0084 | 2 | 162 | 0.0124 | -14 | c.90+ others(31): Show |
GULP1 | ENSG00000144366.17 | transcript | ENST00000409830.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GULP1_chr2_188286874_188600926 | 188514040 | AGTGTGTG others(7): Show |
A | intron_variant | MODIFIER | HG02717.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0113a0001c0001t0003g0002 | 2 | 162 | 0.0124 | -14 | c.91- others(29): Show |
GULP1 | ENSG00000144366.17 | transcript | ENST00000409830.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GVQW3_chr11_76376323_76413132 | 76400006 | TACACACA others(7): Show |
T | intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0126 | 1 | 382 | 0.0026 | -14 | c.466 others(31): Show |
GVQW3 | ENSG00000179240.13 | transcript | ENST00000529331.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
GXYLT1_chr12_42076845_42149874 | 42101873 | CAAAATGC others(7): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG01069.hp2 HG01071.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0010 | a0001c0001t0006g0011a0001c0001t0006g0012a0001c0001t0006g0013others(14): Show | 20 | 398 | 0.0503 | -14 | c.865 others(31): Show |
GXYLT1 | ENSG00000151233.11 | transcript | ENST00000398675.8 | protein_coding | 5/7 | chr12 | TogoVar | ||||||
GXYLT2_chr3_72883046_72981915 | 72946276 | GAAAAAAA others(7): Show |
G | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0023a0001c0001t0004g0024 | 2 | 296 | 0.0068 | -14 | c.601 others(31): Show |
GXYLT2 | ENSG00000172986.13 | transcript | ENST00000389617.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GXYLT2_chr3_72883046_72981915 | 72954399 | CTGTGTGT others(7): Show |
C | intron_variant | MODIFIER | HG02895.hp1 HG02922.hp1 HG02922.hp2 others(1): Show |
a0001a0002 | a0001c0004a0002c0003 | a0001c0004t0015a0002c0003t0002a0002c0003t0006 | a0001c0004t0015g0285a0001c0004t0015g0290a0002c0003t0002g0017others(1): Show | 4 | 296 | 0.0135 | -14 | c.601 others(29): Show |
GXYLT2 | ENSG00000172986.13 | transcript | ENST00000389617.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GXYLT2_chr3_72883046_72981915 | 72979498 | CTTTTCTT others(7): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00558.hp2 others(84): Show |
a0001a0005 | a0001c0001a0005c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0027others(84): Show | 87 | 296 | 0.2939 | -14 | c.*43 others(25): Show |
GXYLT2 | ENSG00000172986.13 | transcript | ENST00000389617.9 | protein_coding | 2584 | chr3 | TogoVar | ||||||
GXYLT2_chr3_72883046_72981915 | 72979558 | ACTCTCTT others(7): Show |
A | downstream_gene_variant | MODIFIER | HG02572.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0269 | 1 | 296 | 0.0034 | -14 | c.*44 others(25): Show |
GXYLT2 | ENSG00000172986.13 | transcript | ENST00000389617.9 | protein_coding | 2644 | chr3 | TogoVar | ||||||
GYG1_chr3_148986540_149036775 | 148997054 | TTGTGTGT others(7): Show |
T | intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0203 | 1 | 414 | 0.0024 | -14 | c.481 others(29): Show |
GYG1 | ENSG00000163754.18 | transcript | ENST00000345003.9 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GYG1_chr3_148986540_149036775 | 149012997 | TTGTGTGT others(7): Show |
T | intron_variant | MODIFIER | HG01516.hp1 HG01517.hp1 |
a0001 | a0001c0002 | a0001c0002t0026 | a0001c0002t0026g0016 | 2 | 414 | 0.0048 | -14 | c.608 others(31): Show |
GYG1 | ENSG00000163754.18 | transcript | ENST00000345003.9 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GYG2_chrX_2823930_2887818 | 2846055 | ATTTTTTT others(7): Show |
A | intron_variant | MODIFIER | HG01255.hp1 HG01978.hp1 HG01981.hp2 others(4): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0083a0001c0001t0002g0085a0001c0001t0004g0081others(4): Show | 7 | 316 | 0.0222 | -14 | c.149 others(31): Show |
GYG2 | ENSG00000056998.21 | transcript | ENST00000398806.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GYPC_chr2_126651158_126701667 | 126663950 | GTCTCTCT others(7): Show |
G | intron_variant | MODIFIER | HG00673.hp1 HG01981.hp1 HG02055.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0043a0001c0001t0001g0233a0001c0001t0001g0234others(9): Show | 13 | 416 | 0.0313 | -14 | c.49+ others(29): Show |
GYPC | ENSG00000136732.16 | transcript | ENST00000259254.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GYPC_chr2_126651158_126701667 | 126666708 | TACACACA others(7): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(29): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0045a0001c0001t0001g0049a0001c0001t0001g0176others(25): Show | 32 | 416 | 0.0769 | -14 | c.49+ others(31): Show |
GYPC | ENSG00000136732.16 | transcript | ENST00000259254.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GYPC_chr2_126651158_126701667 | 126666744 | CACACACA others(7): Show |
C | intron_variant | MODIFIER | HG03130.hp1 NA18522.hp1 NA19030.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0008 | 3 | 416 | 0.0072 | -14 | c.49+ others(31): Show |
GYPC | ENSG00000136732.16 | transcript | ENST00000259254.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GYPE_chr4_143865864_143910559 | 143888334 | AAAGTCAG others(7): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(356): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0009others(220): Show | 359 | 398 | 0.9020 | -14 | c.38- others(29): Show |
GYPE | ENSG00000197465.14 | transcript | ENST00000358615.9 | protein_coding | 1/3 | chr4 | TogoVar | ||||||
GYS1_chr19_48963130_48998309 | 48979336 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 390 | 0.0026 | -14 | c.117 others(33): Show |
GYS1 | ENSG00000104812.15 | transcript | ENST00000323798.8 | protein_coding | 8/15 | chr19 | TogoVar | ||||||
GYS1_chr19_48963130_48998309 | 48996502 | CTGTGTGT others(7): Show |
C | upstream_gene_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0015 | a0001c0015t0007 | a0001c0015t0007g0034 | 1 | 390 | 0.0026 | -14 | c.-34 others(25): Show |
GYS1 | ENSG00000104812.15 | transcript | ENST00000323798.8 | protein_coding | 3194 | chr19 | TogoVar | ||||||
GYS2_chr12_21531107_21609847 | 21550314 | AACACACA others(7): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02486.hp2 HG02572.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0019a0001c0001t0004g0098a0001c0001t0004g0099others(4): Show | 7 | 312 | 0.0224 | -14 | c.142 others(33): Show |
GYS2 | ENSG00000111713.3 | transcript | ENST00000261195.3 | protein_coding | 11/15 | chr12 | TogoVar | ||||||
GYS2_chr12_21531107_21609847 | 21562698 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | NA18953.hp2 NA19002.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0074a0002c0002t0001g0079 | 2 | 312 | 0.0064 | -14 | c.106 others(31): Show |
GYS2 | ENSG00000111713.3 | transcript | ENST00000261195.3 | protein_coding | 7/15 | chr12 | TogoVar | ||||||
GYS2_chr12_21531107_21609847 | 21565390 | AATATATA others(7): Show |
A | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 312 | 0.0032 | -14 | c.824 others(31): Show |
GYS2 | ENSG00000111713.3 | transcript | ENST00000261195.3 | protein_coding | 5/15 | chr12 | TogoVar | ||||||
H1-8_chr3_129538175_129556467 | 129540468 | GTATATAT others(7): Show |
G | upstream_gene_variant | MODIFIER | HG02723.hp1 HG02735.hp2 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0008a0003c0004t0001g0011 | 2 | 422 | 0.0047 | -14 | c.-27 others(25): Show |
H1-8 | ENSG00000178804.8 | transcript | ENST00000324382.7 | protein_coding | 2706 | chr3 | TogoVar | ||||||
H2AC12_chr6_27142106_27152562 | 27145295 | TACACACA others(7): Show |
T | upstream_gene_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 382 | 0.0026 | -14 | c.-18 others(25): Show |
H2AC12 | ENSG00000274997.2 | transcript | ENST00000377459.3 | protein_coding | 1810 | chr6 | TogoVar | ||||||
H2AC13_chr6_27803173_27813667 | 27803526 | TCACACAC others(7): Show |
T | upstream_gene_variant | MODIFIER | HG00609.hp1 HG01358.hp2 HG01496.hp2 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 33 | 408 | 0.0809 | -14 | c.-46 others(25): Show |
H2AC13 | ENSG00000196747.5 | transcript | ENST00000358739.5 | protein_coding | 4646 | chr6 | TogoVar | ||||||
H2AC19_chr1_149846061_149856594 | 149855384 | GGTGTGTG others(7): Show |
G | downstream_gene_variant | MODIFIER | HG01069.hp2 HG01243.hp2 HG01255.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 328 | 0.0092 | -14 | c.*38 others(25): Show |
H2AC19 | ENSG00000288859.1 | transcript | ENST00000607355.3 | protein_coding | 3791 | chr1 | TogoVar | ||||||
H2AC8_chr6_26211921_26222437 | 26212569 | CTTTTTTT others(7): Show |
C | upstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 362 | 0.0028 | -14 | c.-44 others(25): Show |
H2AC8 | ENSG00000277075.3 | transcript | ENST00000303910.5 | protein_coding | 4351 | chr6 | TogoVar | ||||||
H2AZ2_chr7_44826978_44853087 | 44835698 | TAGGATCC others(7): Show |
T | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0299 | 1 | 406 | 0.0025 | -14 | c.196 others(27): Show |
H2AZ2 | ENSG00000105968.19 | transcript | ENST00000308153.9 | protein_coding | 3/4 | chr7 | TogoVar | ||||||
H2AZ2_chr7_44826978_44853087 | 44846024 | TACACACA others(7): Show |
T | intron_variant | MODIFIER | HG02818.hp1 HG02965.hp2 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0021 | a0001c0001t0009g0171a0001c0001t0009g0173a0001c0001t0021g0172 | 3 | 406 | 0.0074 | -14 | c.3+1 others(27): Show |
H2AZ2 | ENSG00000105968.19 | transcript | ENST00000308153.9 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
H2AZ2_chr7_44826978_44853087 | 44846050 | CACACACA others(7): Show |
C | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0304 | 1 | 406 | 0.0025 | -14 | c.3+1 others(27): Show |
H2AZ2 | ENSG00000105968.19 | transcript | ENST00000308153.9 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
H2BC12_chr6_27141361_27151855 | 27145295 | TACACACA others(7): Show |
T | downstream_gene_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 384 | 0.0026 | -14 | c.*11 others(25): Show |
H2BC12 | ENSG00000197903.8 | transcript | ENST00000356950.2 | protein_coding | 1065 | chr6 | TogoVar | ||||||
H2BC13_chr6_27802479_27812929 | 27803526 | TCACACAC others(7): Show |
T | downstream_gene_variant | MODIFIER | HG00609.hp1 HG01358.hp2 HG01496.hp2 others(30): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0001a0002c0002t0002a0002c0003t0002 | a0002c0002t0001g0000a0002c0002t0002g0000a0002c0003t0002g0000 | 33 | 412 | 0.0801 | -14 | c.*39 others(25): Show |
H2BC13 | ENSG00000185130.6 | transcript | ENST00000377401.4 | protein_coding | 3952 | chr6 | TogoVar | ||||||
H2BC8_chr6_26211200_26221688 | 26212569 | CTTTTTTT others(7): Show |
C | downstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 366 | 0.0027 | -14 | c.*36 others(25): Show |
H2BC8 | ENSG00000273802.3 | transcript | ENST00000541790.4 | protein_coding | 3630 | chr6 | TogoVar | ||||||
H2BW1_chrX_104006147_104018708 | 104007489 | ACAGAGAC others(7): Show |
A | downstream_gene_variant | MODIFIER | NA19054.hp1 | a0007 | a0007c0007 | a0007c0007t0010 | a0007c0007t0010g0024 | 1 | 330 | 0.0030 | -14 | c.*39 others(25): Show |
H2BW1 | ENSG00000123569.10 | transcript | ENST00000217926.7 | protein_coding | 3657 | chrX | TogoVar | ||||||
H3-3A_chr1_226057716_226077019 | 226074340 | CTTTTTTT others(7): Show |
C | downstream_gene_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 434 | 0.0023 | -14 | c.*28 others(25): Show |
H3-3A | ENSG00000163041.13 | transcript | ENST00000366815.10 | protein_coding | 2322 | chr1 | TogoVar | ||||||
H3-3A_chr1_226057716_226077019 | 226075798 | CAAAAAAA others(7): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(191): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(39): Show | 194 | 434 | 0.4470 | -14 | c.*43 others(25): Show |
H3-3A | ENSG00000163041.13 | transcript | ENST00000366815.10 | protein_coding | 3780 | chr1 | TogoVar | ||||||
H3-7_chr1_143900510_143910977 | 143909687 | AGGGGCAA others(7): Show |
A | upstream_gene_variant | MODIFIER | HG02897.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0000 | 1 | 300 | 0.0033 | -14 | c.-37 others(25): Show |
H3-7 | ENSG00000273213.4 | transcript | ENST00000392948.5 | protein_coding | 3711 | chr1 | TogoVar | ||||||
H3C11_chr6_27866845_27877346 | 27876576 | TAAAAAAA others(7): Show |
T | upstream_gene_variant | MODIFIER | HG00639.hp1 HG01243.hp2 HG02622.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0000a0001c0002t0002g0000 | 8 | 374 | 0.0214 | -14 | c.-42 others(25): Show |
H3C11 | ENSG00000275379.2 | transcript | ENST00000616365.2 | protein_coding | 4231 | chr6 | TogoVar | ||||||
H3C15_chr1_149847608_149858125 | 149851697 | GGGACGGG others(7): Show |
G | upstream_gene_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 332 | 0.0030 | -14 | c.-95 others(23): Show |
H3C15 | ENSG00000203852.4 | transcript | ENST00000403683.2 | protein_coding | 910 | chr1 | TogoVar | ||||||
H3C15_chr1_149847608_149858125 | 149855384 | GGTGTGTG others(7): Show |
G | downstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01123.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 5 | 332 | 0.0151 | -14 | c.*23 others(25): Show |
H3C15 | ENSG00000203852.4 | transcript | ENST00000403683.2 | protein_coding | 2260 | chr1 | TogoVar | ||||||
H4C13_chr6_27868148_27878534 | 27876576 | TAAAAAAA others(7): Show |
T | upstream_gene_variant | MODIFIER | HG00639.hp1 HG01243.hp2 HG02622.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 8 | 384 | 0.0208 | -14 | c.-30 others(25): Show |
H4C13 | ENSG00000275126.2 | transcript | ENST00000618305.2 | protein_coding | 3043 | chr6 | TogoVar | ||||||
H4C15_chr1_149855764_149866159 | 149865948 | AAAGAAAG others(7): Show |
A | upstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 206 | 0.0049 | -14 | c.-48 others(25): Show |
H4C15 | ENSG00000270276.3 | transcript | ENST00000579512.3 | protein_coding | 4790 | chr1 | TogoVar | ||||||
H4C5_chr6_26199610_26210021 | 26205665 | AATGTTTA others(7): Show |
A | downstream_gene_variant | MODIFIER | HG03139.hp1 NA18941.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 408 | 0.0074 | -14 | c.*71 others(23): Show |
H4C5 | ENSG00000276966.3 | transcript | ENST00000615164.3 | protein_coding | 645 | chr6 | TogoVar | ||||||
H6PD_chr1_9229774_9276337 | 9234742 | CCCCCGCC others(7): Show |
C | upstream_gene_variant | MODIFIER | HG02896.hp1 | a0002 | a0002c0006 | a0002c0006t0007 | a0002c0006t0007g0016 | 1 | 404 | 0.0025 | -14 | c.-33 others(23): Show |
H6PD | ENSG00000049239.13 | transcript | ENST00000377403.7 | protein_coding | 31 | chr1 | TogoVar | ||||||
H6PD_chr1_9229774_9276337 | 9237236 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02572.hp1 HG02896.hp2 others(11): Show |
a0001a0002 | a0001c0004a0001c0025a0002c0006 | a0001c0004t0009a0001c0004t0068a0001c0004t0070others(4): Show | a0001c0004t0009g0037a0001c0004t0009g0038a0001c0004t0009g0165others(9): Show | 14 | 404 | 0.0347 | -14 | c.-11 others(31): Show |
H6PD | ENSG00000049239.13 | transcript | ENST00000377403.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
H6PD_chr1_9229774_9276337 | 9259487 | TTGTTGTT others(7): Show |
T | intron_variant | MODIFIER | HG02615.hp2 HG02630.hp2 HG02809.hp2 others(3): Show |
a0001a0002 | a0001c0040a0002c0011a0002c0038 | a0001c0040t0011a0002c0011t0011a0002c0038t0041 | a0001c0040t0011g0156a0002c0011t0011g0034a0002c0011t0011g0152others(2): Show | 6 | 404 | 0.0149 | -14 | c.746 others(31): Show |
H6PD | ENSG00000049239.13 | transcript | ENST00000377403.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HAAO_chr2_42762089_42797583 | 42769569 | ATGTGTGT others(7): Show |
A | intron_variant | MODIFIER | HG02559.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0295a0001c0001t0002g0232 | 2 | 410 | 0.0049 | -14 | c.630 others(29): Show |
HAAO | ENSG00000162882.15 | transcript | ENST00000294973.11 | protein_coding | 7/9 | chr2 | TogoVar | ||||||
HAAO_chr2_42762089_42797583 | 42786009 | CTGTGTGT others(7): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01258.hp1 HG01361.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0281a0001c0001t0001g0282a0001c0001t0001g0283others(9): Show | 12 | 410 | 0.0293 | -14 | c.160 others(31): Show |
HAAO | ENSG00000162882.15 | transcript | ENST00000294973.11 | protein_coding | 2/9 | chr2 | TogoVar | ||||||
HAAO_chr2_42762089_42797583 | 42791480 | GTTGGCCA others(7): Show |
G | intron_variant | MODIFIER | HG01192.hp2 HG02109.hp2 HG02280.hp2 others(7): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(2): Show | a0001c0001t0001g0228a0001c0001t0001g0229a0001c0001t0001g0230others(7): Show | 10 | 410 | 0.0244 | -14 | c.80+ others(27): Show |
HAAO | ENSG00000162882.15 | transcript | ENST00000294973.11 | protein_coding | 1/9 | chr2 | TogoVar | ||||||
HABP4_chr9_96445169_96496336 | 96452911 | GTTTTTTT others(7): Show |
G | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0079 | 1 | 306 | 0.0033 | -14 | c.349 others(31): Show |
HABP4 | ENSG00000130956.14 | transcript | ENST00000375249.5 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
HABP4_chr9_96445169_96496336 | 96456780 | AATATATA others(7): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00544.hp2 others(41): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0009others(33): Show | 44 | 306 | 0.1438 | -14 | c.350 others(31): Show |
HABP4 | ENSG00000130956.14 | transcript | ENST00000375249.5 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
HACD1_chr10_17584032_17622374 | 17613097 | GGTGTGTG others(7): Show |
G | intron_variant | MODIFIER | HG01975.hp2 HG02258.hp2 HG02630.hp2 others(3): Show |
a0001a0003a0007 | a0001c0001a0003c0003a0007c0013 | a0001c0001t0001a0001c0001t0006a0003c0003t0003others(1): Show | a0001c0001t0001g0192a0001c0001t0006g0254a0001c0001t0006g0255others(2): Show | 6 | 410 | 0.0146 | -14 | c.257 others(31): Show |
HACD1 | ENSG00000165996.14 | transcript | ENST00000361271.8 | protein_coding | 1/6 | chr10 | TogoVar |