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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GSTCD_chr4_105703784_105852725 | 105766887 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0143 | 1 | 186 | 0.0054 | 26 | c.124 others(47): Show |
GSTCD | ENSG00000138780.15 | transcript | ENST00000515279.6 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GSTO2_chr10_104264184_104309950 | 104293563 | A | ATTTTTTT others(19): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01109.hp2 HG02055.hp2 others(10): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0002a0001c0002t0044a0001c0004t0005others(3): Show | a0001c0002t0002g0106 a0001c0002t0002g0108 a0001c0002t0002g0110 others(9): Show |
13 | 300 | 0.0433 | 26 | c.469 others(43): Show |
GSTO2 | ENSG00000065621.15 | transcript | ENST00000338595.7 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GTDC1_chr2_143933068_144337512 | 144133471 | T | TATAATAT others(19): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0090 | 1 | 124 | 0.0081 | 26 | c.521 others(43): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | TogoVar | |||||||
GTF2A1_chr14_81170452_81225959 | 81211873 | C | CTATATAT others(19): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0099 | 1 | 350 | 0.0029 | 26 | c.132 others(43): Show |
GTF2A1 | ENSG00000165417.12 | transcript | ENST00000553612.6 | protein_coding | 2/8 | chr14 | TogoVar | |||||||
GTF2A1_chr14_81170452_81225959 | 81211875 | T | TTATATAT others(19): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02723.hp2 HG03669.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0015 | a0001c0001t0006g0067 a0001c0001t0006g0068 a0001c0001t0006g0069 others(1): Show |
4 | 350 | 0.0114 | 26 | c.132 others(43): Show |
GTF2A1 | ENSG00000165417.12 | transcript | ENST00000553612.6 | protein_coding | 2/8 | chr14 | TogoVar | |||||||
GTF2A1_chr14_81170452_81225959 | 81220280 | T | TCCCCGCG others(19): Show |
intron_variant | MODIFIER | NA18988.hp1 NA19083.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0274 a0001c0001t0005g0275 |
2 | 350 | 0.0057 | 26 | c.30+ others(39): Show |
GTF2A1 | ENSG00000165417.12 | transcript | ENST00000553612.6 | protein_coding | 1/8 | chr14 | TogoVar | |||||||
GTF2F2_chr13_45115510_45289893 | 45191224 | A | AAAAAATA others(19): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 210 | 0.0048 | 26 | c.305 others(45): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
GTF2F2_chr13_45115510_45289893 | 45212447 | G | GTTTCTTT others(19): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00738.hp2 NA18954.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0110 a0001c0002t0001g0117 a0001c0002t0001g0183 others(1): Show |
4 | 210 | 0.0191 | 26 | c.386 others(43): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
GTF2F2_chr13_45115510_45289893 | 45212459 | C | CTTTTCTT others(19): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01099.hp2 HG01175.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 a0001c0001t0001g0087 a0001c0001t0001g0093 others(3): Show |
6 | 210 | 0.0286 | 26 | c.386 others(43): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
GTF2F2_chr13_45115510_45289893 | 45228283 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01069.hp1 HG01071.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0063 a0001c0001t0001g0090 a0001c0001t0001g0097 others(2): Show |
5 | 210 | 0.0238 | 26 | c.386 others(45): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
GTF2H5_chr6_158163350_158204344 | 158169448 | A | ATATTATA others(19): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0034a0001c0001t0089 | a0001c0001t0034g0067 a0001c0001t0034g0069 a0001c0001t0089g0068 |
3 | 384 | 0.0078 | 26 | c.-34 others(43): Show |
GTF2H5 | ENSG00000272047.4 | transcript | ENST00000607778.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GTF2H5_chr6_158163350_158204344 | 158169600 | A | ATATATAA others(19): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02523.hp1 NA18939.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0049others(1): Show | a0001c0001t0001g0006 a0001c0001t0005g0138 a0001c0001t0005g0139 others(2): Show |
7 | 384 | 0.0182 | 26 | c.-34 others(41): Show |
GTF2H5 | ENSG00000272047.4 | transcript | ENST00000607778.2 | protein_coding | 1/2 | chr6 | TogoVar | |||||||
GTF2H5_chr6_158163350_158204344 | 158169601 | C | CATATAAT others(19): Show |
intron_variant | MODIFIER | NA18963.hp1 NA19011.hp2 |
a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0140 a0001c0001t0047g0141 |
2 | 384 | 0.0052 | 26 | c.-34 others(41): Show |
GTF2H5 | ENSG00000272047.4 | transcript | ENST00000607778.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GTF2H5_chr6_158163350_158204344 | 158169686 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0215 | 1 | 384 | 0.0026 | 26 | c.-34 others(41): Show |
GTF2H5 | ENSG00000272047.4 | transcript | ENST00000607778.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GTF2H5_chr6_158163350_158204344 | 158169686 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00558.hp2 others(65): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(25): Show | a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0014 others(54): Show |
68 | 384 | 0.1771 | 26 | c.-34 others(41): Show |
GTF2H5 | ENSG00000272047.4 | transcript | ENST00000607778.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GTF2H5_chr6_158163350_158204344 | 158169686 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02647.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0004g0040 |
4 | 384 | 0.0104 | 26 | c.-34 others(41): Show |
GTF2H5 | ENSG00000272047.4 | transcript | ENST00000607778.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GTF2H5_chr6_158163350_158204344 | 158175044 | G | GTATATAT others(19): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 384 | 0.0026 | 26 | c.35+ others(41): Show |
GTF2H5 | ENSG00000272047.4 | transcript | ENST00000607778.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GTF2H5_chr6_158163350_158204344 | 158175044 | G | GTGTGTGT others(19): Show |
intron_variant | MODIFIER | HG01884.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0099 | a0001c0001t0011g0065 a0001c0001t0099g0197 |
2 | 384 | 0.0052 | 26 | c.35+ others(41): Show |
GTF2H5 | ENSG00000272047.4 | transcript | ENST00000607778.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GTF3C3_chr2_196758035_196804683 | 196781353 | A | AATATATA others(19): Show |
intron_variant | MODIFIER | NA18989.hp1 NA18989.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0038 |
2 | 252 | 0.0079 | 26 | c.111 others(43): Show |
GTF3C3 | ENSG00000119041.11 | transcript | ENST00000263956.8 | protein_coding | 8/17 | chr2 | TogoVar | |||||||
GTF3C3_chr2_196758035_196804683 | 196781357 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0201 | 1 | 252 | 0.0040 | 26 | c.111 others(43): Show |
GTF3C3 | ENSG00000119041.11 | transcript | ENST00000263956.8 | protein_coding | 8/17 | chr2 | TogoVar | |||||||
GTF3C3_chr2_196758035_196804683 | 196781357 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0116 | 1 | 252 | 0.0040 | 26 | c.111 others(43): Show |
GTF3C3 | ENSG00000119041.11 | transcript | ENST00000263956.8 | protein_coding | 8/17 | chr2 | TogoVar | |||||||
GTF3C3_chr2_196758035_196804683 | 196781357 | A | AATATATA others(19): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 252 | 0.0040 | 26 | c.111 others(43): Show |
GTF3C3 | ENSG00000119041.11 | transcript | ENST00000263956.8 | protein_coding | 8/17 | chr2 | TogoVar | |||||||
GUCY1A2_chr11_106669019_107023476 | 106698119 | A | ATTTTTTT others(19): Show |
intron_variant | MODIFIER | HG03098.hp1 HG03098.hp2 HG03927.hp2 |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0004a0001c0002t0004a0001c0005t0004 | a0001c0001t0004g0173 a0001c0002t0004g0183 a0001c0005t0004g0049 |
3 | 256 | 0.0117 | 26 | c.199 others(47): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 7/7 | chr11 | TogoVar | |||||||
GUCY1A2_chr11_106669019_107023476 | 106909355 | C | CTGTGTGT others(19): Show |
intron_variant | MODIFIER | HG02132.hp1 NA18954.hp1 NA19011.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0072 | a0001c0001t0001g0092 a0001c0001t0002g0099 a0001c0001t0072g0091 |
3 | 256 | 0.0117 | 26 | c.120 others(47): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 4/7 | chr11 | TogoVar | |||||||
GULP1_chr2_188286874_188600926 | 188352618 | T | TCACACAC others(19): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0147 | 1 | 162 | 0.0062 | 26 | c.-17 others(47): Show |
GULP1 | ENSG00000144366.17 | transcript | ENST00000409830.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GULP1_chr2_188286874_188600926 | 188352649 | C | CACACACA others(19): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01169.hp2 NA18940.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010a0001c0001t0030 | a0001c0001t0003g0008 a0001c0001t0003g0010 a0001c0001t0003g0011 others(2): Show |
5 | 162 | 0.0309 | 26 | c.-17 others(47): Show |
GULP1 | ENSG00000144366.17 | transcript | ENST00000409830.6 | protein_coding | 1/11 | chr2 | TogoVar | |||||||
GULP1_chr2_188286874_188600926 | 188368939 | G | GTATATAT others(19): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0078 | 1 | 162 | 0.0062 | 26 | c.-17 others(47): Show |
GULP1 | ENSG00000144366.17 | transcript | ENST00000409830.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GXYLT1_chr12_42076845_42149874 | 42098760 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01074.hp1 HG01243.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0009a0001c0001t0014a0001c0002t0003others(4): Show | a0001c0001t0009g0256 a0001c0001t0014g0229 a0001c0001t0014g0236 others(19): Show |
22 | 398 | 0.0553 | 26 | c.865 others(41): Show |
GXYLT1 | ENSG00000151233.11 | transcript | ENST00000398675.8 | protein_coding | 5/7 | chr12 | TogoVar | |||||||
GYG1_chr3_148986540_149036775 | 149022498 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0336 a0001c0003t0004g0337 |
2 | 414 | 0.0048 | 26 | c.609 others(43): Show |
GYG1 | ENSG00000163754.18 | transcript | ENST00000345003.9 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GYG2_chrX_2823930_2887818 | 2844532 | A | ATATATGT others(19): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01169.hp2 others(1): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0008 | a0001c0001t0009a0002c0002t0001a0006c0008t0006 | a0001c0001t0009g0266 a0002c0002t0001g0123 a0002c0002t0001g0124 others(1): Show |
4 | 316 | 0.0127 | 26 | c.149 others(43): Show |
GYG2 | ENSG00000056998.21 | transcript | ENST00000398806.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GYG2_chrX_2823930_2887818 | 2844729 | C | CACACGCA others(19): Show |
intron_variant | MODIFIER | NA18947.hp2 NA19010.hp2 |
a0001 | a0001c0001a0001c0016 | a0001c0001t0001a0001c0016t0003 | a0001c0001t0001g0267 a0001c0016t0003g0233 |
2 | 316 | 0.0063 | 26 | c.149 others(43): Show |
GYG2 | ENSG00000056998.21 | transcript | ENST00000398806.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GYG2_chrX_2823930_2887818 | 2844755 | C | CACACGCA others(19): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00423.hp1 others(72): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0009others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0004 a0001c0001t0001g0182 a0001c0001t0001g0198 others(71): Show |
75 | 316 | 0.2373 | 26 | c.149 others(43): Show |
GYG2 | ENSG00000056998.21 | transcript | ENST00000398806.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GZMK_chr5_55019256_55039570 | 55022321 | C | CCACACAC others(19): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG01981.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0023 others(2): Show |
7 | 464 | 0.0151 | 26 | c.-20 others(37): Show |
GZMK | ENSG00000113088.6 | transcript | ENST00000231009.3 | protein_coding | 1934 | chr5 | TogoVar | |||||||
H2AC16_chr6_27860317_27870798 | 27869580 | T | TGAGCCAA others(19): Show |
downstream_gene_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 374 | 0.0027 | 26 | c.*38 others(37): Show |
H2AC16 | ENSG00000276903.2 | transcript | ENST00000613174.2 | protein_coding | 3783 | chr6 | TogoVar | |||||||
H2AC4_chr6_26028092_26038618 | 26031152 | G | GTATATAT others(19): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 HG01952.hp1 HG02040.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0004g0000 others(2): Show |
19 | 406 | 0.0468 | 26 | c.*20 others(37): Show |
H2AC4 | ENSG00000278463.2 | transcript | ENST00000615868.2 | protein_coding | 1939 | chr6 | TogoVar | |||||||
H3-3A_chr1_226057716_226077019 | 226074979 | C | CTTTTTTT others(19): Show |
downstream_gene_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0028 | 1 | 434 | 0.0023 | 26 | c.*35 others(37): Show |
H3-3A | ENSG00000163041.13 | transcript | ENST00000366815.10 | protein_coding | 2961 | chr1 | TogoVar | |||||||
H3C2_chr6_26026589_26037099 | 26031152 | G | GTATATAT others(19): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 HG01952.hp2 HG02040.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 20 | 396 | 0.0505 | 26 | c.*49 others(35): Show |
H3C2 | ENSG00000286522.2 | transcript | ENST00000621411.3 | protein_coding | 436 | chr6 | TogoVar | |||||||
H3Y1_chr5_17649868_17660849 | 17651922 | C | CTTTCTTT others(19): Show |
downstream_gene_variant | MODIFIER | HG02896.hp2 HG02897.hp2 HG02976.hp1 others(1): Show |
a0001a0004 | a0001c0002a0004c0011 | a0001c0002t0002a0004c0011t0002 | a0001c0002t0002g0000 a0004c0011t0002g0000 |
4 | 376 | 0.0106 | 26 | c.*32 others(37): Show |
H3Y1 | ENSG00000269466.4 | transcript | ENST00000598383.3 | protein_coding | 2945 | chr5 | TogoVar | |||||||
H3Y2_chr5_17485967_17497076 | 17493385 | C | CATATATA others(19): Show |
upstream_gene_variant | MODIFIER | HG00741.hp1 HG01109.hp2 NA18941.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0000 a0001c0002t0001g0000 |
9 | 400 | 0.0225 | 26 | c.-16 others(37): Show |
H3Y2 | ENSG00000268799.4 | transcript | ENST00000600799.3 | protein_coding | 1310 | chr5 | TogoVar | |||||||
H4C12_chr6_27826174_27836560 | 27832868 | A | ATTTTTTT others(19): Show |
upstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 419 | 0.0024 | 26 | c.-13 others(37): Show |
H4C12 | ENSG00000273542.2 | transcript | ENST00000611927.2 | protein_coding | 1309 | chr6 | TogoVar | |||||||
H4C14_chr1_149827657_149838052 | 149827865 | T | TTTCTTTC others(19): Show |
upstream_gene_variant | MODIFIER | HG02004.hp1 NA18612.hp2 NA18969.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 4 | 236 | 0.0170 | 26 | c.-48 others(37): Show |
H4C14 | ENSG00000270882.3 | transcript | ENST00000578186.3 | protein_coding | 4791 | chr1 | TogoVar | |||||||
H4C2_chr6_26021896_26032283 | 26031152 | G | GTATATAT others(19): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00558.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(2): Show | a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0002t0002g0000 others(2): Show |
23 | 400 | 0.0575 | 26 | c.-39 others(37): Show |
H4C2 | ENSG00000278705.3 | transcript | ENST00000377745.5 | protein_coding | 3870 | chr6 | TogoVar | |||||||
HACD2_chr3_123486554_123590053 | 123534798 | T | TTGTGTGT others(19): Show |
intron_variant | MODIFIER | HG02965.hp2 HG03139.hp1 |
a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0336 a0001c0003t0010g0337 |
2 | 350 | 0.0057 | 26 | c.293 others(43): Show |
HACD2 | ENSG00000206527.10 | transcript | ENST00000383657.10 | protein_coding | 3/6 | chr3 | TogoVar | |||||||
HACD2_chr3_123486554_123590053 | 123570917 | T | TACACACA others(19): Show |
intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0291 | 1 | 350 | 0.0029 | 26 | c.274 others(43): Show |
HACD2 | ENSG00000206527.10 | transcript | ENST00000383657.10 | protein_coding | 2/6 | chr3 | TogoVar | |||||||
HACD2_chr3_123486554_123590053 | 123577040 | T | TCAATTCC others(19): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0117 | 1 | 350 | 0.0029 | 26 | c.273 others(43): Show |
HACD2 | ENSG00000206527.10 | transcript | ENST00000383657.10 | protein_coding | 2/6 | chr3 | TogoVar | |||||||
HACE1_chr6_104723094_104864919 | 104811238 | T | TTATACAT others(19): Show |
intron_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 346 | 0.0029 | 26 | c.617 others(39): Show |
HACE1 | ENSG00000085382.12 | transcript | ENST00000262903.9 | protein_coding | 7/23 | chr6 | TogoVar | |||||||
HAO1_chr20_7877985_7945458 | 7909381 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0180 | 1 | 348 | 0.0029 | 26 | c.546 others(43): Show |
HAO1 | ENSG00000101323.5 | transcript | ENST00000378789.4 | protein_coding | 3/7 | chr20 | TogoVar | |||||||
HAO1_chr20_7877985_7945458 | 7936503 | C | CGTGTGTG others(19): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02698.hp1 HG03540.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0220 others(6): Show |
9 | 348 | 0.0259 | 26 | c.138 others(43): Show |
HAO1 | ENSG00000101323.5 | transcript | ENST00000378789.4 | protein_coding | 1/7 | chr20 | TogoVar | |||||||
HAPLN3_chr15_88872294_88900544 | 88897512 | T | TGCGGCCC others(19): Show |
upstream_gene_variant | MODIFIER | HG02615.hp2 HG02717.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0061 | 2 | 436 | 0.0046 | 26 | c.-21 others(37): Show |
HAPLN3 | ENSG00000140511.12 | transcript | ENST00000359595.8 | protein_coding | 1969 | chr15 | TogoVar | |||||||
HAPLN3_chr15_88872294_88900544 | 88897514 | T | TGGCCCCA others(19): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 HG02258.hp1 HG02486.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0141 a0001c0002t0001g0179 a0001c0002t0001g0236 others(3): Show |
6 | 436 | 0.0138 | 26 | c.-21 others(37): Show |
HAPLN3 | ENSG00000140511.12 | transcript | ENST00000359595.8 | protein_coding | 1971 | chr15 | TogoVar |