| view | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| GLIS3_chr9_3819127_4305068 | 4276421 | GGGGAGGG others(43): Show |
G | intron_variant | MODIFIER | HG01192.hp2 HG02055.hp1 HG03130.hp2 |
a0001a0003 | a0001c0001a0003c0025 | a0001c0001t0036a0001c0001t0037a0003c0025t0051 | a0001c0001t0036g0008a0001c0001t0037g0009a0003c0025t0051g0037 | 3 | 188 | 0.0160 | -50 | c.388 others(67): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 2/10 | chr9 | TogoVar | |||||||
| GLO1_chr6_38670925_38708145 | 38699842 | AGACCCTT others(43): Show |
A | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0269 | 1 | 410 | 0.0024 | -50 | c.84+ others(65): Show |
GLO1 | ENSG00000124767.7 | transcript | ENST00000373365.5 | protein_coding | 1/5 | chr6 | TogoVar | |||||||
| GLO1_chr6_38670925_38708145 | 38699902 | CAGTAGTT others(43): Show |
C | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0171 | 1 | 410 | 0.0024 | -50 | c.84+ others(65): Show |
GLO1 | ENSG00000124767.7 | transcript | ENST00000373365.5 | protein_coding | 1/5 | chr6 | TogoVar | |||||||
| GLRA2_chrX_14524536_14736812 | 14699820 | CCTTTGCA others(43): Show |
C | intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0229 | 1 | 232 | 0.0043 | -50 | c.108 others(69): Show |
GLRA2 | ENSG00000101958.14 | transcript | ENST00000218075.9 | protein_coding | 8/8 | chrX | TogoVar | |||||||
| GLT1D1_chr12_128848478_128989968 | 128879372 | TTTTCTTT others(43): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00609.hp1 others(30): Show |
a0001a0002 | a0001c0002a0001c0006a0001c0019others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(11): Show | a0001c0002t0001g0026a0001c0002t0001g0046a0001c0002t0001g0066others(30): Show | 33 | 320 | 0.1031 | -50 | c.217 others(67): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| GMDS_chr6_1618806_2250605 | 1683913 | GATCGGTA others(43): Show |
G | intron_variant | MODIFIER | HG02886.hp1 NA20129.hp2 NA21309.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0058a0001c0001t0001g0084a0001c0002t0001g0005 | 3 | 166 | 0.0181 | -50 | c.987 others(69): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 9/10 | chr6 | TogoVar | |||||||
| GMPR_chr6_16233587_16300549 | 16266086 | CCTTTAAG others(43): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(220): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(208): Show | 223 | 344 | 0.6483 | -50 | c.466 others(67): Show |
GMPR | ENSG00000137198.10 | transcript | ENST00000259727.5 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| GNG12_chr1_67696475_67838467 | 67710182 | ATATATAT others(43): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0156a0001c0001t0002g0158 | 2 | 274 | 0.0073 | -50 | c.-26 others(67): Show |
GNG12 | ENSG00000172380.6 | transcript | ENST00000370982.4 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
| GNG7_chr19_2506219_2707694 | 2651333 | ACCTTCCC others(43): Show |
A | intron_variant | MODIFIER | HG02486.hp2 HG03453.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0032a0001c0001t0082 | a0001c0001t0018g0014a0001c0001t0032g0001a0001c0001t0082g0015 | 3 | 206 | 0.0146 | -50 | c.-13 others(69): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
| GON4L_chr1_155744659_155862214 | 155805673 | GTTGTAAT others(43): Show |
G | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 218 | 0.0046 | -50 | c.145 others(67): Show |
GON4L | ENSG00000116580.20 | transcript | ENST00000368331.6 | protein_coding | 10/31 | chr1 | TogoVar | |||||||
| GON4L_chr1_155744659_155862214 | 155809542 | TTATATAC others(43): Show |
T | intron_variant | MODIFIER | HG02523.hp1 NA19068.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0060a0001c0001t0002g0061 | 2 | 218 | 0.0092 | -50 | c.145 others(69): Show |
GON4L | ENSG00000116580.20 | transcript | ENST00000368331.6 | protein_coding | 10/31 | chr1 | TogoVar | |||||||
| GOSR1_chr17_30472408_30532592 | 30523531 | GTCAGCCC others(43): Show |
G | 3_prime_UTR_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0100 | 1 | 306 | 0.0033 | -50 | c.*12 others(61): Show |
GOSR1 | ENSG00000108587.16 | transcript | ENST00000451249.7 | protein_coding | 9/9 | 1202 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| GPD2_chr2_156431379_156591403 | 156451462 | CGGGGGGC others(43): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00438.hp1 others(144): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(15): Show | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0016others(144): Show | 147 | 254 | 0.5787 | -50 | c.-9+ others(67): Show |
GPD2 | ENSG00000115159.17 | transcript | ENST00000438166.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| GPD2_chr2_156431379_156591403 | 156451491 | GGAAGGGG others(43): Show |
G | intron_variant | MODIFIER | HG01993.hp2 NA19006.hp1 NA19007.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199a0001c0001t0001g0220a0001c0001t0001g0221others(2): Show | 5 | 254 | 0.0197 | -50 | c.-9+ others(67): Show |
GPD2 | ENSG00000115159.17 | transcript | ENST00000438166.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| GPR137C_chr14_52547836_52642713 | 52635366 | CTGACTTT others(43): Show |
C | 3_prime_UTR_variant | MODIFIER | NA18991.hp1 | a0002 | a0002c0002 | a0002c0002t0024 | a0002c0002t0024g0135 | 1 | 346 | 0.0029 | -50 | c.*25 others(59): Show |
GPR137C | ENSG00000180998.12 | transcript | ENST00000321662.11 | protein_coding | 7/7 | 252 | chr14 | TogoVar | ||||||
| GPR87_chr3_151289086_151321820 | 151293588 | CACACACA others(43): Show |
C | downstream_gene_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0009 | 1 | 446 | 0.0022 | -50 | c.*53 others(59): Show |
GPR87 | ENSG00000138271.6 | transcript | ENST00000260843.5 | protein_coding | 497 | chr3 | TogoVar | |||||||
| GPRIN1_chr5_176590802_176615156 | 176591896 | GTGTTGGT others(43): Show |
G | downstream_gene_variant | MODIFIER | HG01928.hp1 NA19012.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0003 | 2 | 397 | 0.0050 | -50 | c.*48 others(61): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 3905 | chr5 | TogoVar | |||||||
| GRAMD4_chr22_46615386_46684785 | 46615683 | CGTAGGTT others(43): Show |
C | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(137): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0066others(134): Show | 140 | 328 | 0.4268 | -50 | c.-49 others(61): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 4702 | chr22 | TogoVar | |||||||
| GRIN1_chr9_137134154_137173756 | 137152726 | GGCACACA others(43): Show |
G | intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0085 | 1 | 298 | 0.0034 | -50 | c.671 others(67): Show |
GRIN1 | ENSG00000176884.17 | transcript | ENST00000371561.8 | protein_coding | 4/19 | chr9 | TogoVar | |||||||
| GSG1L_chr16_27782528_28068714 | 27869844 | TCTCCATC others(43): Show |
T | intron_variant | MODIFIER | HG03017.hp2 HG03927.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0019a0001c0002t0015 | a0001c0001t0019g0180a0001c0002t0015g0178 | 2 | 240 | 0.0083 | -50 | c.550 others(69): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 3/6 | chr16 | TogoVar | |||||||
| GSG1L_chr16_27782528_28068714 | 27888460 | CTTTCTCT others(43): Show |
C | intron_variant | MODIFIER | HG00558.hp2 NA19084.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0132a0001c0002t0002g0041 | 2 | 240 | 0.0083 | -50 | c.398 others(67): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 2/6 | chr16 | TogoVar | |||||||
| GSG1L_chr16_27782528_28068714 | 27888464 | CTCTCTCT others(43): Show |
C | intron_variant | MODIFIER | HG00733.hp2 HG02300.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0020a0001c0002t0013 | a0001c0001t0020g0187a0001c0002t0013g0216 | 2 | 240 | 0.0083 | -50 | c.398 others(67): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 2/6 | chr16 | TogoVar | |||||||
| GSG1L_chr16_27782528_28068714 | 27888465 | TCTCTCTC others(43): Show |
T | intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0113 | 1 | 240 | 0.0042 | -50 | c.398 others(67): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 2/6 | chr16 | TogoVar | |||||||
| GSTM4_chr1_109651099_109666700 | 109654170 | GAAAGAAA others(43): Show |
G | upstream_gene_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 364 | 0.0028 | -50 | c.-22 others(61): Show |
GSTM4 | ENSG00000168765.19 | transcript | ENST00000369836.9 | protein_coding | 1928 | chr1 | TogoVar | |||||||
| GSTM4_chr1_109651099_109666700 | 109654174 | GAAAGAAA others(43): Show |
G | upstream_gene_variant | MODIFIER | HG01255.hp2 NA18948.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003a0001c0001t0002g0036 | 2 | 364 | 0.0055 | -50 | c.-22 others(61): Show |
GSTM4 | ENSG00000168765.19 | transcript | ENST00000369836.9 | protein_coding | 1924 | chr1 | TogoVar | |||||||
| GSTM4_chr1_109651099_109666700 | 109654178 | GAAAGAAA others(43): Show |
G | upstream_gene_variant | MODIFIER | HG02148.hp1 HG02293.hp1 HG02451.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0004 | a0001c0001t0002g0001a0001c0001t0002g0005a0002c0003t0004g0001others(1): Show | 8 | 364 | 0.0220 | -50 | c.-22 others(61): Show |
GSTM4 | ENSG00000168765.19 | transcript | ENST00000369836.9 | protein_coding | 1920 | chr1 | TogoVar | |||||||
| GTF2I_chr7_74652718_74765692 | 74761958 | CCTGAGTT others(43): Show |
C | downstream_gene_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 174 | 0.0058 | -50 | c.*24 others(61): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1267 | chr7 | TogoVar | |||||||
| GTPBP10_chr7_90341716_90396453 | 90344160 | ATATATGT others(43): Show |
A | upstream_gene_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0003 | a0003c0003 | a0003c0003t0015 | a0003c0003t0015g0025 | 2 | 390 | 0.0051 | -50 | c.-25 others(61): Show |
GTPBP10 | ENSG00000105793.16 | transcript | ENST00000222511.11 | protein_coding | 2555 | chr7 | TogoVar | |||||||
| GUCA1B_chr6_42178284_42199956 | 42192369 | AAAAAAAA others(43): Show |
A | intron_variant | MODIFIER | HG02572.hp2 HG03195.hp1 HG03516.hp1 |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0036a0001c0002t0005g0109 | 3 | 418 | 0.0072 | -50 | c.207 others(67): Show |
GUCA1B | ENSG00000112599.9 | transcript | ENST00000230361.4 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
| GYG2_chrX_2823930_2887818 | 2844668 | GTGTATAC others(43): Show |
G | intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0103 | 1 | 316 | 0.0032 | -50 | c.149 others(67): Show |
GYG2 | ENSG00000056998.21 | transcript | ENST00000398806.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| H1-7_chr12_48323980_48335279 | 48332636 | CGGGGGGC others(43): Show |
C | downstream_gene_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 424 | 0.0024 | -50 | c.*25 others(61): Show |
H1-7 | ENSG00000187166.1 | transcript | ENST00000335017.1 | protein_coding | 2358 | chr12 | TogoVar | |||||||
| H1-7_chr12_48323980_48335279 | 48333136 | CGGGGGGC others(43): Show |
C | downstream_gene_variant | MODIFIER | HG00741.hp1 HG00741.hp2 HG01175.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 5 | 424 | 0.0118 | -50 | c.*30 others(61): Show |
H1-7 | ENSG00000187166.1 | transcript | ENST00000335017.1 | protein_coding | 2858 | chr12 | TogoVar | |||||||
| H3C13_chr1_149808225_149818693 | 149817383 | ATTCTGCA others(43): Show |
A | upstream_gene_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 374 | 0.0027 | -50 | c.-37 others(61): Show |
H3C13 | ENSG00000183598.4 | transcript | ENST00000331491.2 | protein_coding | 3691 | chr1 | TogoVar | |||||||
| HAVCR2_chr5_157080832_157114044 | 157100624 | CTTAAATG others(43): Show |
C | intron_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0270 | 1 | 380 | 0.0026 | -50 | c.479 others(67): Show |
HAVCR2 | ENSG00000135077.10 | transcript | ENST00000307851.9 | protein_coding | 3/6 | chr5 | TogoVar | |||||||
| HBM_chr16_160978_171764 | 164900 | GCCGGGCC others(43): Show |
G | upstream_gene_variant | MODIFIER | HG01515.hp1 HG01517.hp1 NA18970.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 370 | 0.0081 | -50 | c.-10 others(61): Show |
HBM | ENSG00000206177.7 | transcript | ENST00000356815.4 | protein_coding | 1077 | chr16 | TogoVar | |||||||
| HCN1_chr5_45249948_45701380 | 45372440 | TATATAAA others(43): Show |
T | intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0146 | 1 | 226 | 0.0044 | -50 | c.123 others(71): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 4/7 | chr5 | TogoVar | |||||||
| HDHD3_chr9_113368422_113381986 | 113381218 | TCTTTTTT others(43): Show |
T | upstream_gene_variant | MODIFIER | NA18979.hp1 NA19012.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0014 | 2 | 464 | 0.0043 | -50 | c.-48 others(61): Show |
HDHD3 | ENSG00000119431.10 | transcript | ENST00000374180.4 | protein_coding | 4233 | chr9 | TogoVar | |||||||
| HGSNAT_chr8_43135464_43207855 | 43181104 | GGAGAGGG others(43): Show |
G | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0185 | 1 | 234 | 0.0043 | -50 | c.101 others(68): Show |
HGSNAT | ENSG00000165102.15 | transcript | ENST00000379644.9 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| HIF1AN_chr10_100530943_100564998 | 100558520 | TGACAGCC others(43): Show |
T | 3_prime_UTR_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0080 | a0001c0001t0080g0017 | 1 | 320 | 0.0031 | -50 | c.*10 others(63): Show |
HIF1AN | ENSG00000166135.14 | transcript | ENST00000299163.7 | protein_coding | 8/8 | 10385 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| HINT3_chr6_125951770_125985244 | 125962235 | CACATATA others(43): Show |
C | intron_variant | MODIFIER | HG02074.hp1 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129a0001c0001t0001g0157 | 2 | 268 | 0.0075 | -50 | c.202 others(67): Show |
HINT3 | ENSG00000111911.7 | transcript | ENST00000229633.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| HIVEP3_chr1_41501365_41923922 | 41824766 | TATATATA others(43): Show |
T | intron_variant | MODIFIER | NA18942.hp1 | a0032 | a0032c0037 | a0032c0037t0071 | a0032c0037t0071g0117 | 1 | 134 | 0.0075 | -50 | c.-80 others(71): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
| HOMEZ_chr14_23267422_23291132 | 23273450 | TAAAGACG others(43): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00639.hp1 | a0002 | a0002c0002 | a0002c0002t0035 | a0002c0002t0035g0216 | 1 | 394 | 0.0025 | -50 | c.*20 others(61): Show |
HOMEZ | ENSG00000290292.10 | transcript | ENST00000357460.7 | protein_coding | 2/2 | 2075 | chr14 | TogoVar | ||||||
| HOMEZ_chr14_23267422_23291132 | 23280610 | GCTCCCTG others(43): Show |
G | intron_variant | MODIFIER | NA19080.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0215 | 1 | 394 | 0.0025 | -50 | c.41- others(65): Show |
HOMEZ | ENSG00000290292.10 | transcript | ENST00000357460.7 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
| HOOK3_chr8_42891978_43035535 | 43033048 | GCGGGGCG others(43): Show |
G | downstream_gene_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0143 | 1 | 162 | 0.0062 | -50 | c.*14 others(63): Show |
HOOK3 | ENSG00000168172.9 | transcript | ENST00000307602.9 | protein_coding | 2514 | chr8 | TogoVar | |||||||
| HPS1_chr10_98411198_98451935 | 98446132 | AGCACTGT others(43): Show |
A | intron_variant | MODIFIER | HG01081.hp2 HG02258.hp2 HG03195.hp1 |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0012a0002c0006t0008 | a0001c0001t0012g0051a0002c0006t0008g0342 | 3 | 434 | 0.0069 | -50 | c.-10 others(67): Show |
HPS1 | ENSG00000107521.21 | transcript | ENST00000361490.9 | protein_coding | 1/19 | chr10 | TogoVar | |||||||
| HPSE2_chr10_98452077_99240852 | 99132191 | AAGAGAGA others(43): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00639.hp2 others(12): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0052a0001c0001t0004g0033a0001c0001t0004g0064others(12): Show | 15 | 142 | 0.1056 | -50 | c.610 others(69): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 3/11 | chr10 | TogoVar | |||||||
| HRCT1_chr9_35901202_35912136 | 35905696 | AGTGTCTC others(43): Show |
A | upstream_gene_variant | MODIFIER | HG01175.hp1 | a0025 | a0025c0024 | a0025c0024t0001 | a0025c0024t0001g0000 | 1 | 430 | 0.0023 | -50 | c.-59 others(59): Show |
HRCT1 | ENSG00000196196.3 | transcript | ENST00000354323.3 | protein_coding | 505 | chr9 | TogoVar | |||||||
| HRCT1_chr9_35901202_35912136 | 35909741 | AGCACCTG others(43): Show |
A | downstream_gene_variant | MODIFIER | NA20805.hp2 | a0073 | a0073c0076 | a0073c0076t0001 | a0073c0076t0001g0000 | 1 | 430 | 0.0023 | -50 | c.*31 others(61): Show |
HRCT1 | ENSG00000196196.3 | transcript | ENST00000354323.3 | protein_coding | 2606 | chr9 | TogoVar | |||||||
| HRH3_chr20_62209960_62225278 | 62213365 | GGTGGGGG others(43): Show |
G | downstream_gene_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0006 | 1 | 368 | 0.0027 | -50 | c.*25 others(61): Show |
HRH3 | ENSG00000101180.17 | transcript | ENST00000340177.10 | protein_coding | 1594 | chr20 | TogoVar | |||||||
| HS2ST1_chr1_86909635_87114982 | 86985383 | TACACACA others(43): Show |
T | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0063 | 1 | 154 | 0.0065 | -50 | c.124 others(69): Show |
HS2ST1 | ENSG00000153936.18 | transcript | ENST00000370550.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |