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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HID1_chr17_74945742_74977759 | 74976724 | AAAAAAAA others(12): Show |
A | upstream_gene_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0116 | 1 | 362 | 0.0028 | -19 | c.-40 others(30): Show |
HID1 | ENSG00000167861.16 | transcript | ENST00000425042.7 | protein_coding | 3966 | chr17 | TogoVar | |||||||
HIGD1C_chr12_50947544_50975607 | 50957938 | GTGTGTGT others(12): Show |
G | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 378 | 0.0026 | -19 | c.95- others(34): Show |
HIGD1C | ENSG00000214511.4 | transcript | ENST00000695931.1 | protein_coding | 3/4 | chr12 | TogoVar | |||||||
HIKESHI_chr11_86297240_86350943 | 86316771 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0285 | 1 | 6 | 0.1667 | -19 | c.268 others(38): Show |
HIKESHI | ENSG00000149196.17 | transcript | ENST00000278483.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HIVEP2_chr6_142746469_142950176 | 142785309 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 37 | 0.0270 | -19 | c.-52 others(38): Show |
HIVEP2 | ENSG00000010818.11 | transcript | ENST00000367603.8 | protein_coding | 2/9 | chr6 | TogoVar | |||||||
HIVEP2_chr6_142746469_142950176 | 142793640 | CTTTCTTT others(12): Show |
C | intron_variant | MODIFIER | HG02965.hp2 HG02976.hp2 |
a0001 | a0001c0012a0001c0029 | a0001c0012t0004a0001c0029t0001 | a0001c0012t0004g0267 a0001c0029t0001g0268 |
2 | 278 | 0.0072 | -19 | c.-52 others(40): Show |
HIVEP2 | ENSG00000010818.11 | transcript | ENST00000367603.8 | protein_coding | 2/9 | chr6 | TogoVar | |||||||
HLA-F_chr6_29718434_29732296 | 29722521 | CAAAAAAA others(12): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00423.hp1 others(90): Show |
a0001a0002a0011 | a0001c0001a0002c0002a0011c0009 | a0001c0001t0001a0002c0002t0001a0011c0009t0001 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 others(10): Show |
93 | 99 | 0.9394 | -19 | c.-94 others(28): Show |
HLA-F | ENSG00000204642.14 | transcript | ENST00000259951.12 | protein_coding | 912 | chr6 | TogoVar | |||||||
HLCS_chr21_36743626_36971669 | 36888446 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG01123.hp2 HG01169.hp2 others(7): Show |
a0001a0006a0008 | a0001c0001a0006c0008a0008c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0092 a0001c0001t0001g0127 a0001c0001t0001g0128 others(7): Show |
10 | 189 | 0.0529 | -19 | c.189 others(38): Show |
HLCS | ENSG00000159267.17 | transcript | ENST00000674895.3 | protein_coding | 6/10 | chr21 | TogoVar | |||||||
HLCS_chr21_36743626_36971669 | 36895024 | TGCTGCCC others(12): Show |
T | intron_variant | MODIFIER | HG01515.hp1 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0008 | a0001c0001t0005g0105 a0001c0001t0008g0005 |
2 | 256 | 0.0078 | -19 | c.189 others(38): Show |
HLCS | ENSG00000159267.17 | transcript | ENST00000674895.3 | protein_coding | 6/10 | chr21 | TogoVar | |||||||
HLTF_chr3_149025127_149091533 | 149079373 | TAAAAAAA others(12): Show |
T | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0046 | 1 | 32 | 0.0313 | -19 | c.229 others(36): Show |
HLTF | ENSG00000071794.16 | transcript | ENST00000310053.10 | protein_coding | 2/24 | chr3 | TogoVar | |||||||
HM13_chr20_31509442_31574543 | 31569729 | CTCTCTCA others(12): Show |
C | downstream_gene_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0081 | 1 | 200 | 0.0050 | -19 | c.*51 others(28): Show |
HM13 | ENSG00000101294.19 | transcript | ENST00000398174.9 | protein_coding | 187 | chr20 | TogoVar | |||||||
HMCN1_chr1_185729391_186195949 | 185858586 | ATTTTTTT others(12): Show |
A | intron_variant | MODIFIER | HG02723.hp1 NA21309.hp2 |
a0031a0046 | a0031c0022a0046c0020 | a0031c0022t0001a0046c0020t0002 | a0031c0022t0001g0092 a0046c0020t0002g0068 |
2 | 6 | 0.3333 | -19 | c.340 others(36): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HMCN1_chr1_185729391_186195949 | 186128981 | TATGTTAA others(12): Show |
T | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 90 | 0.0111 | -19 | c.129 others(38): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 83/106 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HMCN2_chr9_130260760_130439123 | 130315200 | TCCCTCCC others(12): Show |
T | intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0151 | 1 | 195 | 0.0051 | -19 | c.235 others(38): Show |
HMCN2 | ENSG00000148357.18 | transcript | ENST00000683500.2 | protein_coding | 15/97 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
HMGA2_chr12_65819483_65971291 | 65875589 | ATTTTTTT others(12): Show |
A | intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0191 | 1 | 17 | 0.0588 | -19 | c.249 others(38): Show |
HMGA2 | ENSG00000149948.14 | transcript | ENST00000403681.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
HMGB3_chrX_150978335_150995771 | 150983487 | TGAGCGCG others(12): Show |
T | intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0017 | 1 | 328 | 0.0030 | -19 | c.-6+ others(32): Show |
HMGB3 | ENSG00000029993.15 | transcript | ENST00000325307.12 | protein_coding | 1/4 | chrX | TogoVar | |||||||
HMGCL_chr1_23796885_23830429 | 23825731 | TCCAAAAA others(12): Show |
T | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00408.hp2 others(167): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(104): Show |
170 | 183 | 0.9290 | -19 | c.-33 others(28): Show |
HMGCL | ENSG00000117305.15 | transcript | ENST00000374490.8 | protein_coding | 303 | chr1 | TogoVar | |||||||
HMGCR_chr5_75332220_75367101 | 75345039 | TGATGAAT others(12): Show |
T | intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0087 | 1 | 388 | 0.0026 | -19 | c.366 others(34): Show |
HMGCR | ENSG00000113161.17 | transcript | ENST00000287936.9 | protein_coding | 4/19 | chr5 | TogoVar | |||||||
HMSD_chr18_63944301_63966835 | 63963052 | TTCTTTCT others(12): Show |
T | downstream_gene_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0105 | 1 | 402 | 0.0025 | -19 | c.*26 others(30): Show |
HMSD | ENSG00000221887.6 | transcript | ENST00000408945.5 | protein_coding | 1218 | chr18 | TogoVar | |||||||
HMSD_chr18_63944301_63966835 | 63963071 | CTCTTTCT others(12): Show |
C | downstream_gene_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 188 | 0.0053 | -19 | c.*27 others(30): Show |
HMSD | ENSG00000221887.6 | transcript | ENST00000408945.5 | protein_coding | 1237 | chr18 | TogoVar | |||||||
HNF1B_chr17_37681431_37750059 | 37747243 | TAATGAAG others(12): Show |
T | upstream_gene_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0075 | 1 | 408 | 0.0025 | -19 | c.-23 others(30): Show |
HNF1B | ENSG00000275410.6 | transcript | ENST00000617811.5 | protein_coding | 2185 | chr17 | TogoVar | |||||||
HNF4A_chr20_44350699_44437845 | 44430597 | TGAGGAAG others(12): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(66): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0003a0001c0009others(3): Show | a0001c0001t0003a0001c0001t0009a0001c0001t0015others(25): Show | a0001c0001t0003g0006 a0001c0001t0003g0029 a0001c0001t0003g0042 others(66): Show |
69 | 320 | 0.2156 | -19 | c.*93 others(28): Show |
HNF4A | ENSG00000101076.20 | transcript | ENST00000316673.9 | protein_coding | 10/10 | 937 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
HNRNPA1L2_chr13_52637431_52648773 | 52647392 | ATTTTTTT others(12): Show |
A | downstream_gene_variant | MODIFIER | HG02922.hp2 NA19030.hp2 |
a0001a0011 | a0001c0001a0011c0010 | a0001c0001t0001a0011c0010t0001 | a0001c0001t0001g0000 a0011c0010t0001g0000 |
2 | 278 | 0.0072 | -19 | c.*39 others(30): Show |
HNRNPA1L2 | ENSG00000139675.13 | transcript | ENST00000357495.5 | protein_coding | 3620 | chr13 | TogoVar | |||||||
HNRNPC_chr14_21204147_21274442 | 21205456 | AATTTCTA others(12): Show |
A | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG02015.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0016 | a0001c0001t0001g0128 a0001c0001t0001g0204 a0001c0001t0001g0242 others(6): Show |
9 | 386 | 0.0233 | -19 | c.*57 others(30): Show |
HNRNPC | ENSG00000092199.19 | transcript | ENST00000553300.6 | protein_coding | 3690 | chr14 | TogoVar | |||||||
HNRNPC_chr14_21204147_21274442 | 21222376 | TTGTTTTT others(12): Show |
T | intron_variant | MODIFIER | NA19079.hp2 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227 a0001c0001t0001g0300 |
2 | 386 | 0.0052 | -19 | c.365 others(36): Show |
HNRNPC | ENSG00000092199.19 | transcript | ENST00000553300.6 | protein_coding | 5/8 | chr14 | TogoVar | |||||||
HNRNPD_chr4_82347498_82378991 | 82349412 | CAAAAAAA others(12): Show |
C | downstream_gene_variant | MODIFIER | HG02615.hp2 HG02809.hp1 HG02976.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0054 a0001c0001t0007g0055 a0001c0001t0007g0056 others(3): Show |
6 | 22 | 0.2727 | -19 | c.*47 others(30): Show |
HNRNPD | ENSG00000138668.20 | transcript | ENST00000313899.12 | protein_coding | 3085 | chr4 | TogoVar | |||||||
HNRNPH3_chr10_68327064_68348193 | 68346265 | TTGGGGAG others(12): Show |
T | downstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 402 | 0.0025 | -19 | c.*42 others(30): Show |
HNRNPH3 | ENSG00000096746.18 | transcript | ENST00000265866.12 | protein_coding | 3073 | chr10 | TogoVar | |||||||
HNRNPR_chr1_23299688_23349284 | 23348087 | GGTCTCAA others(12): Show |
G | upstream_gene_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0270 | 1 | 352 | 0.0028 | -19 | c.-39 others(30): Show |
HNRNPR | ENSG00000125944.22 | transcript | ENST00000302271.11 | protein_coding | 3804 | chr1 | TogoVar | |||||||
HNRNPUL2_chr11_62707630_62732457 | 62720546 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(215): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0001c0009others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(72): Show |
218 | 251 | 0.8685 | -19 | c.161 others(36): Show |
HNRNPUL2 | ENSG00000214753.4 | transcript | ENST00000301785.7 | protein_coding | 9/13 | chr11 | TogoVar | |||||||
HOMER1_chr5_79367636_79519134 | 79443804 | AACTCCCA others(12): Show |
A | intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0176 | 1 | 288 | 0.0035 | -19 | c.387 others(36): Show |
HOMER1 | ENSG00000152413.15 | transcript | ENST00000334082.11 | protein_coding | 4/8 | chr5 | TogoVar | |||||||
HOOK3_chr8_42891978_43035535 | 42939653 | GCTGCCGG others(12): Show |
G | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0075 | a0001c0001t0075g0159 | 1 | 160 | 0.0063 | -19 | c.268 others(36): Show |
HOOK3 | ENSG00000168172.9 | transcript | ENST00000307602.9 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
HOPX_chr4_56642998_56686296 | 56685941 | AATGTATT others(12): Show |
A | upstream_gene_variant | MODIFIER | HG00438.hp1 HG01168.hp2 HG01978.hp1 others(30): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0009 | a0001c0001t0001g0003 a0001c0001t0001g0022 a0001c0001t0001g0040 others(16): Show |
33 | 369 | 0.0894 | -19 | c.-47 others(30): Show |
HOPX | ENSG00000171476.23 | transcript | ENST00000420433.6 | protein_coding | 4646 | chr4 | TogoVar | |||||||
HORMAD1_chr1_150693060_150725895 | 150725151 | AGAAAACA others(12): Show |
A | upstream_gene_variant | MODIFIER | HG02293.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 390 | 0.0026 | -19 | c.-44 others(30): Show |
HORMAD1 | ENSG00000143452.16 | transcript | ENST00000361824.7 | protein_coding | 4257 | chr1 | TogoVar | |||||||
HORMAD2_chr22_30075464_30182075 | 30129238 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02280.hp1 HG03209.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0007 a0001c0001t0001g0061 a0001c0001t0001g0336 others(1): Show |
4 | 348 | 0.0115 | -19 | c.819 others(36): Show |
HORMAD2 | ENSG00000176635.18 | transcript | ENST00000336726.11 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
HOXB13_chr17_48719763_48733750 | 48727492 | TGTCACGG others(12): Show |
T | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0036 | 1 | 424 | 0.0024 | -19 | c.602 others(34): Show |
HOXB13 | ENSG00000159184.8 | transcript | ENST00000290295.8 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
HPGDS_chr4_94293535_94347836 | 94340301 | CTTTCTTT others(12): Show |
C | intron_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 296 | 0.0034 | -19 | c.-10 others(36): Show |
HPGDS | ENSG00000163106.11 | transcript | ENST00000295256.10 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
HPGDS_chr4_94293535_94347836 | 94340305 | CTTTCTCT others(12): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG01099.hp2 HG01891.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0064 others(2): Show |
6 | 280 | 0.0214 | -19 | c.-10 others(36): Show |
HPGDS | ENSG00000163106.11 | transcript | ENST00000295256.10 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
HPN_chr19_35036721_35071573 | 35048057 | AAAGAAAG others(12): Show |
A | intron_variant | MODIFIER | HG02071.hp2 HG03927.hp2 NA18960.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0002g0107 others(1): Show |
4 | 381 | 0.0105 | -19 | c.17- others(34): Show |
HPN | ENSG00000105707.15 | transcript | ENST00000672452.2 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HPSE2_chr10_98452077_99240852 | 99072927 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0108 | 1 | 12 | 0.0833 | -19 | c.610 others(38): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 3/11 | chr10 | TogoVar | |||||||
HPSE2_chr10_98452077_99240852 | 99169504 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG01981.hp1 HG03130.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0001g0048 a0001c0001t0001g0060 a0001c0001t0004g0033 others(3): Show |
6 | 7 | 0.8571 | -19 | c.449 others(38): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 2/11 | chr10 | TogoVar | |||||||
HRK_chr12_116851144_116886441 | 116872931 | AGAGAAAT others(12): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(127): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(31): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0026 others(90): Show |
130 | 364 | 0.3571 | -19 | c.*56 others(36): Show |
HRK | ENSG00000135116.9 | transcript | ENST00000257572.5 | protein_coding | 1/1 | chr12 | TogoVar | |||||||
HS3ST2_chr16_22809162_22921338 | 22884658 | AAATATAT others(12): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG01070.hp2 HG01071.hp1 others(3): Show |
a0001a0003 | a0001c0004a0001c0005a0003c0008 | a0001c0004t0002a0001c0005t0002a0003c0008t0002 | a0001c0004t0002g0236 a0001c0005t0002g0004 a0001c0005t0002g0089 others(3): Show |
6 | 348 | 0.0172 | -19 | c.486 others(38): Show |
HS3ST2 | ENSG00000122254.7 | transcript | ENST00000261374.4 | protein_coding | 1/1 | chr16 | TogoVar | |||||||
HS3ST3A1_chr17_13489032_13606929 | 13523319 | AGGAAACT others(12): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02723.hp2 HG03209.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0310 a0001c0001t0018g0313 a0001c0001t0018g0314 others(1): Show |
4 | 336 | 0.0119 | -19 | c.600 others(38): Show |
HS3ST3A1 | ENSG00000153976.3 | transcript | ENST00000284110.2 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
HS3ST3A1_chr17_13489032_13606929 | 13560289 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0104 | 1 | 60 | 0.0167 | -19 | c.599 others(38): Show |
HS3ST3A1 | ENSG00000153976.3 | transcript | ENST00000284110.2 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
HS3ST3A1_chr17_13489032_13606929 | 13579943 | TAAAAAAA others(12): Show |
T | intron_variant | MODIFIER | HG02486.hp2 HG02717.hp2 HG03471.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0017a0001c0001t0072a0001c0002t0016 | a0001c0001t0017g0302 a0001c0001t0072g0303 a0001c0002t0016g0301 |
3 | 147 | 0.0204 | -19 | c.599 others(38): Show |
HS3ST3A1 | ENSG00000153976.3 | transcript | ENST00000284110.2 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
HS3ST6_chr16_1906475_1923415 | 1907566 | CCATGCCC others(12): Show |
C | downstream_gene_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG01891.hp2 others(29): Show |
a0002a0003a0004others(2): Show | a0002c0002a0003c0003a0004c0006others(2): Show | a0002c0002t0001a0003c0003t0001a0004c0006t0001others(2): Show | a0002c0002t0001g0001 a0003c0003t0001g0007 a0003c0003t0001g0016 others(10): Show |
32 | 432 | 0.0741 | -19 | c.*40 others(30): Show |
HS3ST6 | ENSG00000162040.7 | transcript | ENST00000454677.3 | protein_coding | 3908 | chr16 | TogoVar | |||||||
HS6ST3_chr13_96085107_96844562 | 96118670 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0066 | 1 | 95 | 0.0105 | -19 | c.707 others(38): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
HSD17B12_chr11_43675738_43861615 | 43690386 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 a0001c0001t0001g0112 |
2 | 276 | 0.0072 | -19 | c.160 others(36): Show |
HSD17B12 | ENSG00000149084.13 | transcript | ENST00000278353.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HSD17B14_chr19_48808018_48841491 | 48809066 | CAAAAAAA others(12): Show |
C | downstream_gene_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255 | 1 | 76 | 0.0132 | -19 | c.*40 others(30): Show |
HSD17B14 | ENSG00000087076.9 | transcript | ENST00000263278.9 | protein_coding | 3951 | chr19 | TogoVar | |||||||
HSD17B3_chr9_96230306_96307176 | 96255367 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00597.hp1 HG00735.hp2 others(45): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(45): Show |
48 | 71 | 0.6761 | -19 | c.202 others(34): Show |
HSD17B3 | ENSG00000130948.10 | transcript | ENST00000375263.8 | protein_coding | 2/10 | chr9 | TogoVar | |||||||
HSD17B4_chr5_119447497_119547332 | 119462248 | ATTTTTTT others(12): Show |
A | intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0304 | 1 | 48 | 0.0208 | -19 | c.112 others(36): Show |
HSD17B4 | ENSG00000133835.18 | transcript | ENST00000510025.7 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |