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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HS6ST3_chr13_96085107_96844562 | 96656998 | T | TGAGAGAG others(1): Show |
intron_variant | MODIFIER | HG02145.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009a0001c0001t0002g0011 | 2 | 116 | 0.0172 | 8 | c.708 others(29): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
HS6ST3_chr13_96085107_96844562 | 96706413 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01074.hp1 HG01496.hp1 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0043a0001c0001t0002g0031a0001c0001t0004g0098others(4): Show | 7 | 116 | 0.0603 | 8 | c.708 others(29): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
HS6ST3_chr13_96085107_96844562 | 96722988 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02970.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0024 | a0001c0001t0001g0114a0001c0001t0024g0060 | 2 | 116 | 0.0172 | 8 | c.708 others(29): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
HS6ST3_chr13_96085107_96844562 | 96765588 | T | TTCTCTCT others(1): Show |
intron_variant | MODIFIER | HG01361.hp1 HG02132.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0005 | a0001c0001t0001g0005a0002c0002t0005g0040 | 2 | 116 | 0.0172 | 8 | c.708 others(27): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
HS6ST3_chr13_96085107_96844562 | 96790270 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01358.hp1 HG03834.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0005a0002c0002t0027 | a0001c0001t0001g0048a0001c0001t0001g0056a0002c0002t0005g0061others(1): Show | 4 | 116 | 0.0345 | 8 | c.708 others(27): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
HS6ST3_chr13_96085107_96844562 | 96835604 | G | GACACACA others(1): Show |
3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00558.hp2 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0012others(5): Show | a0001c0001t0001g0005a0001c0001t0001g0022a0001c0001t0001g0023others(34): Show | 37 | 116 | 0.3190 | 8 | c.*24 others(19): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 2/2 | 2438 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||
HSBP1_chr16_83802978_83824737 | 83820798 | C | CTCTCTCT others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00621.hp2 HG00733.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0014a0001c0001t0024others(6): Show | a0001c0001t0004g0002a0001c0001t0004g0003a0001c0001t0004g0012others(9): Show | 13 | 468 | 0.0278 | 8 | c.*93 others(19): Show |
HSBP1 | ENSG00000230989.8 | transcript | ENST00000433866.7 | protein_coding | 1062 | chr16 | TogoVar | ||||||
HSBP1_chr16_83802978_83824737 | 83820798 | C | CTCTCTGT others(1): Show |
downstream_gene_variant | MODIFIER | HG02622.hp2 HG02886.hp1 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0016a0001c0001t0025g0042 | 3 | 468 | 0.0064 | 8 | c.*93 others(19): Show |
HSBP1 | ENSG00000230989.8 | transcript | ENST00000433866.7 | protein_coding | 1062 | chr16 | TogoVar | ||||||
HSBP1_chr16_83802978_83824737 | 83820798 | C | CTCTGTGT others(1): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG01256.hp1 HG01258.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0035 | a0001c0001t0001g0001a0001c0001t0001g0053a0001c0001t0004g0003others(2): Show | 17 | 468 | 0.0363 | 8 | c.*93 others(19): Show |
HSBP1 | ENSG00000230989.8 | transcript | ENST00000433866.7 | protein_coding | 1062 | chr16 | TogoVar | ||||||
HSBP1_chr16_83802978_83824737 | 83822044 | C | CAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00544.hp2 HG00597.hp1 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(15): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0011others(26): Show | 49 | 468 | 0.1047 | 8 | c.*10 others(21): Show |
HSBP1 | ENSG00000230989.8 | transcript | ENST00000433866.7 | protein_coding | 2308 | chr16 | TogoVar | ||||||
HSCB_chr22_28737039_28762510 | 28750945 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02622.hp1 HG02818.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022a0001c0001t0001g0053a0001c0001t0001g0063others(4): Show | 9 | 410 | 0.0220 | 8 | c.569 others(23): Show |
HSCB | ENSG00000100209.11 | transcript | ENST00000216027.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
HSD11B1L_chr19_5676027_5693522 | 5681620 | G | GTCCATCC others(1): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01346.hp1 HG02027.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0018a0001c0001t0001g0031 | 7 | 382 | 0.0183 | 8 | c.-15 others(23): Show |
HSD11B1L | ENSG00000167733.14 | transcript | ENST00000339423.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
HSD11B1L_chr19_5676027_5693522 | 5689627 | C | CTATTTAT others(1): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00597.hp2 HG00609.hp1 others(52): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(13): Show | 55 | 382 | 0.1440 | 8 | c.*16 others(19): Show |
HSD11B1L | ENSG00000167733.14 | transcript | ENST00000339423.7 | protein_coding | 1106 | chr19 | TogoVar | ||||||
HSD11B1_chr1_209699846_209739929 | 209709937 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG01952.hp1 HG02717.hp1 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0231a0001c0001t0001g0232a0001c0001t0001g0257 | 3 | 400 | 0.0075 | 8 | c.517 others(25): Show |
HSD11B1 | ENSG00000117594.10 | transcript | ENST00000367027.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HSD11B1_chr1_209699846_209739929 | 209714022 | T | TAGTCATT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00438.hp1 others(68): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0049a0001c0001t0001g0071a0001c0001t0001g0072others(47): Show | 71 | 400 | 0.1775 | 8 | c.517 others(25): Show |
HSD11B1 | ENSG00000117594.10 | transcript | ENST00000367027.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HSD11B1_chr1_209699846_209739929 | 209729363 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG01243.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0090a0001c0001t0001g0091a0001c0001t0001g0092others(11): Show | 15 | 400 | 0.0375 | 8 | c.518 others(25): Show |
HSD11B1 | ENSG00000117594.10 | transcript | ENST00000367027.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HSD17B11_chr4_87331515_87396188 | 87357948 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01981.hp1 HG02040.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0007a0001c0001t0001g0180a0001c0001t0001g0189others(11): Show | 15 | 390 | 0.0385 | 8 | c.558 others(23): Show |
HSD17B11 | ENSG00000198189.11 | transcript | ENST00000358290.9 | protein_coding | 4/6 | chr4 | TogoVar | ||||||
HSD17B11_chr4_87331515_87396188 | 87357949 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00639.hp1 HG00733.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0197a0001c0001t0001g0205a0001c0001t0001g0208others(21): Show | 25 | 390 | 0.0641 | 8 | c.558 others(23): Show |
HSD17B11 | ENSG00000198189.11 | transcript | ENST00000358290.9 | protein_coding | 4/6 | chr4 | TogoVar | ||||||
HSD17B11_chr4_87331515_87396188 | 87378883 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | NA18971.hp2 NA19010.hp2 NA19081.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237a0001c0001t0001g0239a0001c0001t0001g0240 | 3 | 390 | 0.0077 | 8 | c.318 others(25): Show |
HSD17B11 | ENSG00000198189.11 | transcript | ENST00000358290.9 | protein_coding | 2/6 | chr4 | TogoVar | ||||||
HSD17B11_chr4_87331515_87396188 | 87378885 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0048a0001c0001t0002g0049a0001c0001t0002g0073 | 3 | 390 | 0.0077 | 8 | c.318 others(25): Show |
HSD17B11 | ENSG00000198189.11 | transcript | ENST00000358290.9 | protein_coding | 2/6 | chr4 | TogoVar | ||||||
HSD17B12_chr11_43675738_43861615 | 43676208 | G | GGTGTGTG others(1): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 HG00735.hp1 HG01069.hp2 others(35): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0002others(1): Show | a0001c0001t0001g0005a0001c0001t0001g0009a0001c0001t0001g0032others(34): Show | 38 | 280 | 0.1357 | 8 | c.-46 others(19): Show |
HSD17B12 | ENSG00000149084.13 | transcript | ENST00000278353.10 | protein_coding | 4529 | chr11 | TogoVar | ||||||
HSD17B12_chr11_43675738_43861615 | 43706689 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02572.hp1 HG02630.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0011 | a0001c0001t0001g0004a0001c0001t0001g0266a0001c0001t0001g0267others(5): Show | 8 | 280 | 0.0286 | 8 | c.160 others(27): Show |
HSD17B12 | ENSG00000149084.13 | transcript | ENST00000278353.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
HSD17B12_chr11_43675738_43861615 | 43742139 | A | ATATATTT others(1): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG02970.hp1 others(3): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0003a0002c0002t0004 | a0001c0003t0003g0245a0001c0003t0003g0246a0001c0003t0003g0249others(3): Show | 6 | 280 | 0.0214 | 8 | c.161 others(25): Show |
HSD17B12 | ENSG00000149084.13 | transcript | ENST00000278353.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
HSD17B12_chr11_43675738_43861615 | 43757639 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG02523.hp2 HG02717.hp2 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0209a0001c0001t0001g0210a0001c0001t0001g0211others(7): Show | 10 | 280 | 0.0357 | 8 | c.283 others(25): Show |
HSD17B12 | ENSG00000149084.13 | transcript | ENST00000278353.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
HSD17B12_chr11_43675738_43861615 | 43801595 | G | GATATATA others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG02080.hp2 HG02818.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0002 | a0001c0001t0003g0012a0001c0001t0003g0019a0002c0002t0002g0108others(5): Show | 8 | 280 | 0.0286 | 8 | c.391 others(25): Show |
HSD17B12 | ENSG00000149084.13 | transcript | ENST00000278353.10 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
HSD17B12_chr11_43675738_43861615 | 43810367 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01069.hp2 HG01071.hp2 others(9): Show |
a0002a0004 | a0002c0002a0004c0005 | a0002c0002t0002a0004c0005t0002 | a0002c0002t0002g0001a0002c0002t0002g0026a0002c0002t0002g0039others(8): Show | 12 | 280 | 0.0429 | 8 | c.392 others(25): Show |
HSD17B12 | ENSG00000149084.13 | transcript | ENST00000278353.10 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
HSD17B13_chr4_87298794_87327882 | 87314641 | T | TCTTTCAC others(1): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02622.hp1 HG02896.hp2 others(9): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0002t0009a0002c0004t0007others(1): Show | a0002c0002t0001g0038a0002c0002t0001g0180a0002c0002t0009g0037others(9): Show | 12 | 442 | 0.0272 | 8 | c.558 others(23): Show |
HSD17B13 | ENSG00000170509.12 | transcript | ENST00000328546.5 | protein_coding | 4/6 | chr4 | TogoVar | ||||||
HSD17B14_chr19_48808018_48841491 | 48811494 | C | CAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00673.hp2 others(51): Show |
a0001a0002a0005 | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0034a0001c0001t0001g0046a0001c0001t0001g0048others(51): Show | 54 | 394 | 0.1371 | 8 | c.*16 others(19): Show |
HSD17B14 | ENSG00000087076.9 | transcript | ENST00000263278.9 | protein_coding | 1523 | chr19 | TogoVar | ||||||
HSD17B14_chr19_48808018_48841491 | 48816779 | T | TTTTCTTT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00642.hp2 HG01167.hp1 others(36): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0009 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0045a0001c0001t0001g0069a0001c0001t0001g0076others(34): Show | 39 | 394 | 0.0990 | 8 | c.370 others(25): Show |
HSD17B14 | ENSG00000087076.9 | transcript | ENST00000263278.9 | protein_coding | 5/8 | chr19 | TogoVar | ||||||
HSD17B14_chr19_48808018_48841491 | 48826528 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00735.hp2 HG01167.hp2 others(23): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0006 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0040a0001c0001t0001g0130a0001c0001t0001g0133others(21): Show | 26 | 394 | 0.0660 | 8 | c.369 others(25): Show |
HSD17B14 | ENSG00000087076.9 | transcript | ENST00000263278.9 | protein_coding | 5/8 | chr19 | TogoVar | ||||||
HSD17B2_chr16_82030253_82103534 | 82097350 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00609.hp2 others(108): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0006a0001c0010others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0006t0001others(4): Show | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0001g0017others(103): Show | 111 | 366 | 0.3033 | 8 | c.803 others(23): Show |
HSD17B2 | ENSG00000086696.11 | transcript | ENST00000199936.9 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
HSD17B3_chr9_96230306_96307176 | 96230876 | C | CAATAAAT others(1): Show |
downstream_gene_variant | MODIFIER | HG01255.hp1 HG02257.hp1 HG02451.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0125a0001c0001t0001g0145others(3): Show | 6 | 374 | 0.0160 | 8 | c.*45 others(19): Show |
HSD17B3 | ENSG00000130948.10 | transcript | ENST00000375263.8 | protein_coding | 4429 | chr9 | TogoVar | ||||||
HSD17B3_chr9_96230306_96307176 | 96231893 | T | TTTTTTTT others(1): Show |
downstream_gene_variant | MODIFIER | HG01070.hp2 HG01106.hp1 HG01167.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0002 | a0001c0001t0001g0013a0001c0001t0001g0018a0001c0001t0001g0019others(8): Show | 11 | 374 | 0.0294 | 8 | c.*35 others(19): Show |
HSD17B3 | ENSG00000130948.10 | transcript | ENST00000375263.8 | protein_coding | 3412 | chr9 | TogoVar | ||||||
HSD17B3_chr9_96230306_96307176 | 96231894 | T | TTTTTTTT others(1): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 HG00609.hp1 HG00673.hp1 others(56): Show |
a0001a0003 | a0001c0001a0001c0009a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0021a0001c0001t0001g0023a0001c0001t0001g0028others(56): Show | 59 | 374 | 0.1578 | 8 | c.*35 others(19): Show |
HSD17B3 | ENSG00000130948.10 | transcript | ENST00000375263.8 | protein_coding | 3411 | chr9 | TogoVar | ||||||
HSD17B3_chr9_96230306_96307176 | 96236514 | C | CATAAATA others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00438.hp1 others(99): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0006c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0007others(99): Show | 102 | 374 | 0.2727 | 8 | c.823 others(23): Show |
HSD17B3 | ENSG00000130948.10 | transcript | ENST00000375263.8 | protein_coding | 10/10 | chr9 | TogoVar | ||||||
HSD17B3_chr9_96230306_96307176 | 96241961 | A | AAAAGAAA others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00673.hp2 HG00738.hp1 others(57): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0009a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0008a0001c0001t0001g0013a0001c0001t0001g0018others(57): Show | 60 | 374 | 0.1604 | 8 | c.673 others(25): Show |
HSD17B3 | ENSG00000130948.10 | transcript | ENST00000375263.8 | protein_coding | 9/10 | chr9 | TogoVar | ||||||
HSD17B3_chr9_96230306_96307176 | 96268538 | T | TCTTACAG others(1): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01106.hp1 HG01167.hp1 others(21): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0004others(1): Show | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0020others(21): Show | 24 | 374 | 0.0642 | 8 | c.202 others(27): Show |
HSD17B3 | ENSG00000130948.10 | transcript | ENST00000375263.8 | protein_coding | 2/10 | chr9 | TogoVar | ||||||
HSD17B3_chr9_96230306_96307176 | 96272373 | A | ATCTCTCT others(1): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02698.hp2 HG02717.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0031a0001c0001t0001g0032a0001c0001t0001g0184others(4): Show | 7 | 374 | 0.0187 | 8 | c.202 others(27): Show |
HSD17B3 | ENSG00000130948.10 | transcript | ENST00000375263.8 | protein_coding | 2/10 | chr9 | TogoVar | ||||||
HSD17B3_chr9_96230306_96307176 | 96277835 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01168.hp1 HG01169.hp1 others(21): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0007a0001c0001t0001g0014a0001c0001t0001g0054others(21): Show | 24 | 374 | 0.0642 | 8 | c.201 others(27): Show |
HSD17B3 | ENSG00000130948.10 | transcript | ENST00000375263.8 | protein_coding | 2/10 | chr9 | TogoVar | ||||||
HSD17B3_chr9_96230306_96307176 | 96300209 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00642.hp1 HG01175.hp2 others(32): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0013a0001c0001t0001g0068a0001c0001t0001g0070others(32): Show | 35 | 374 | 0.0936 | 8 | c.154 others(25): Show |
HSD17B3 | ENSG00000130948.10 | transcript | ENST00000375263.8 | protein_coding | 1/10 | chr9 | TogoVar | ||||||
HSD17B4_chr5_119447497_119547332 | 119494325 | T | TTTTCTTT others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00597.hp2 others(46): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0002c0002t0002a0003c0003t0002others(7): Show | a0001c0001t0001g0023a0001c0001t0001g0030a0001c0001t0001g0045others(46): Show | 49 | 380 | 0.1290 | 8 | c.868 others(23): Show |
HSD17B4 | ENSG00000133835.18 | transcript | ENST00000510025.7 | protein_coding | 11/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
HSD17B4_chr5_119447497_119547332 | 119503076 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG01081.hp2 others(20): Show |
a0001a0004a0005others(2): Show | a0001c0001a0001c0013a0004c0004others(3): Show | a0001c0001t0001a0001c0013t0001a0004c0004t0004others(4): Show | a0001c0001t0001g0250a0001c0001t0001g0254a0001c0001t0001g0259others(19): Show | 23 | 380 | 0.0605 | 8 | c.126 others(27): Show |
HSD17B4 | ENSG00000133835.18 | transcript | ENST00000510025.7 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
HSD17B4_chr5_119447497_119547332 | 119532566 | G | GAAATATG others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00558.hp2 others(86): Show |
a0001a0003a0005 | a0001c0001a0001c0013a0003c0003others(1): Show | a0001c0001t0001a0001c0013t0001a0003c0003t0006others(2): Show | a0001c0001t0001g0047a0001c0001t0001g0190a0001c0001t0001g0239others(86): Show | 89 | 380 | 0.2342 | 8 | c.199 others(27): Show |
HSD17B4 | ENSG00000133835.18 | transcript | ENST00000510025.7 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
HSD17B6_chr12_56758324_56792790 | 56777365 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG02055.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0009a0001c0001t0001g0036a0001c0001t0001g0037others(13): Show | 18 | 360 | 0.0500 | 8 | c.313 others(25): Show |
HSD17B6 | ENSG00000025423.11 | transcript | ENST00000322165.1 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
HSD17B8_chr6_33199655_33211831 | 33205971 | C | CAGAGAGA others(1): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02280.hp2 HG02602.hp1 others(8): Show |
a0001a0008 | a0001c0001a0008c0009 | a0001c0001t0001a0008c0009t0001 | a0001c0001t0001g0009a0001c0001t0001g0016a0008c0009t0001g0009 | 11 | 403 | 0.0273 | 8 | c.651 others(21): Show |
HSD17B8 | ENSG00000204228.4 | transcript | ENST00000374662.4 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
HSD3B1_chr1_119502210_119520054 | 119503797 | A | AAAATAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(285): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(71): Show | 288 | 410 | 0.7024 | 8 | c.-35 others(19): Show |
HSD3B1 | ENSG00000203857.10 | transcript | ENST00000369413.8 | protein_coding | 3412 | chr1 | TogoVar | ||||||
HSD3B1_chr1_119502210_119520054 | 119510717 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01175.hp2 NA19010.hp1 NA19010.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0023a0001c0002t0001g0046 | 6 | 410 | 0.0146 | 8 | c.146 others(23): Show |
HSD3B1 | ENSG00000203857.10 | transcript | ENST00000369413.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HSDL1_chr16_84117141_84150177 | 84131483 | G | GTCTATCT others(1): Show |
intron_variant | MODIFIER | HG01069.hp2 HG02080.hp2 HG03041.hp1 others(9): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0019a0001c0001t0001g0072a0001c0001t0001g0078others(7): Show | 12 | 448 | 0.0268 | 8 | c.-6- others(21): Show |
HSDL1 | ENSG00000103160.12 | transcript | ENST00000219439.9 | protein_coding | 2/5 | chr16 | TogoVar | ||||||
HSDL1_chr16_84117141_84150177 | 84131483 | G | GTCTGTCT others(1): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02717.hp1 HG02818.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0009 | a0001c0001t0010a0001c0001t0011a0002c0002t0005others(1): Show | a0001c0001t0010g0044a0001c0001t0011g0055a0002c0002t0005g0016others(4): Show | 9 | 448 | 0.0201 | 8 | c.-6- others(21): Show |
HSDL1 | ENSG00000103160.12 | transcript | ENST00000219439.9 | protein_coding | 2/5 | chr16 | TogoVar | ||||||
HSDL2_chr9_112375108_112477405 | 112376156 | G | GATATATA others(1): Show |
upstream_gene_variant | MODIFIER | HG03130.hp1 NA19043.hp1 NA19043.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0326a0001c0001t0001g0350a0001c0001t0002g0214others(1): Show | 4 | 366 | 0.0109 | 8 | c.-40 others(19): Show |
HSDL2 | ENSG00000119471.15 | transcript | ENST00000398805.8 | protein_coding | 3951 | chr9 | TogoVar |