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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HMGCLL1_chr6_55429373_55584192 | 55543188 | A | AATATATT others(14): Show |
intron_variant | MODIFIER | NA18962.hp2 NA19005.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 a0001c0001t0001g0257 |
2 | 334 | 0.0060 | 21 | c.109 others(38): Show |
HMGCLL1 | ENSG00000146151.14 | transcript | ENST00000274901.9 | protein_coding | 1/8 | chr6 | TogoVar | |||||||
HMGCR_chr5_75332220_75367101 | 75352254 | T | TTTATTAT others(14): Show |
intron_variant | MODIFIER | HG01943.hp1 HG02148.hp2 HG03704.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0139 a0001c0001t0002g0155 a0001c0001t0002g0168 others(2): Show |
5 | 390 | 0.0128 | 21 | c.136 others(38): Show |
HMGCR | ENSG00000113161.17 | transcript | ENST00000287936.9 | protein_coding | 11/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
HMGN3_chr6_79196245_79239682 | 79238247 | G | GACAACAC others(14): Show |
upstream_gene_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 322 | 0.0031 | 21 | c.-36 others(32): Show |
HMGN3 | ENSG00000118418.16 | transcript | ENST00000620514.2 | protein_coding | 3566 | chr6 | TogoVar | |||||||
HMGN4_chr6_26533366_26551933 | 26543421 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 396 | 0.0025 | 21 | c.-80 others(38): Show |
HMGN4 | ENSG00000182952.5 | transcript | ENST00000377575.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
HMHB1_chr5_143807161_143825716 | 143820318 | T | TAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02622.hp1 HG03139.hp2 HG04184.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 a0001c0001t0001g0147 |
5 | 458 | 0.0109 | 21 | c.38- others(34): Show |
HMHB1 | ENSG00000158497.6 | transcript | ENST00000289448.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
HMOX1_chr22_35376096_35399207 | 35389340 | T | TTCTTCTT others(14): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0289 | 1 | 384 | 0.0026 | 21 | c.637 others(36): Show |
HMOX1 | ENSG00000100292.18 | transcript | ENST00000216117.9 | protein_coding | 3/4 | chr22 | TogoVar | |||||||
HNF4A_chr20_44350699_44437845 | 44368160 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0226 | 1 | 322 | 0.0031 | 21 | c.49+ others(38): Show |
HNF4A | ENSG00000101076.20 | transcript | ENST00000316673.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
HNF4A_chr20_44350699_44437845 | 44368160 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG02630.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0034a0001c0001t0088 | a0001c0001t0034g0308 a0001c0001t0088g0311 |
2 | 322 | 0.0062 | 21 | c.49+ others(38): Show |
HNF4A | ENSG00000101076.20 | transcript | ENST00000316673.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
HNF4A_chr20_44350699_44437845 | 44385059 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01515.hp2 HG02071.hp1 others(6): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0121 a0001c0001t0001g0195 a0001c0001t0004g0167 others(6): Show |
9 | 322 | 0.0280 | 21 | c.50- others(38): Show |
HNF4A | ENSG00000101076.20 | transcript | ENST00000316673.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
HNRNPAB_chr5_178199533_178216163 | 178203504 | T | TAAAAAAA others(14): Show |
upstream_gene_variant | MODIFIER | HG01255.hp1 HG01943.hp1 HG02293.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 a0001c0001t0002g0044 a0001c0001t0002g0045 |
10 | 462 | 0.0217 | 21 | c.-12 others(32): Show |
HNRNPAB | ENSG00000197451.12 | transcript | ENST00000358344.8 | protein_coding | 1028 | chr5 | TogoVar | |||||||
HNRNPDL_chr4_82417569_82435462 | 82431498 | A | AGCTATAG others(14): Show |
upstream_gene_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 1 | 348 | 0.0029 | 21 | c.-18 others(32): Show |
HNRNPDL | ENSG00000152795.18 | transcript | ENST00000295470.10 | protein_coding | 1037 | chr4 | TogoVar | |||||||
HNRNPD_chr4_82347498_82378991 | 82376933 | A | ATTTTTTT others(14): Show |
upstream_gene_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0152 | 1 | 332 | 0.0030 | 21 | c.-32 others(32): Show |
HNRNPD | ENSG00000138668.20 | transcript | ENST00000313899.12 | protein_coding | 2943 | chr4 | TogoVar | |||||||
HNRNPM_chr19_8439975_8494114 | 8441431 | T | TCTCTCTC others(14): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 360 | 0.0028 | 21 | c.-35 others(32): Show |
HNRNPM | ENSG00000099783.13 | transcript | ENST00000325495.9 | protein_coding | 3543 | chr19 | TogoVar | |||||||
HNRNPR_chr1_23299688_23349284 | 23336116 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0045 | 1 | 354 | 0.0028 | 21 | c.384 others(38): Show |
HNRNPR | ENSG00000125944.22 | transcript | ENST00000302271.11 | protein_coding | 4/10 | chr1 | TogoVar | |||||||
HOGA1_chr10_97579389_97617802 | 97593029 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG01256.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(1): Show | a0001c0001t0001g0035 a0001c0001t0001g0312 a0001c0001t0001g0314 others(8): Show |
12 | 422 | 0.0284 | 21 | c.212 others(38): Show |
HOGA1 | ENSG00000241935.9 | transcript | ENST00000370646.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
HOMER2_chr15_82843983_82957720 | 82860949 | T | TGAGAGAG others(14): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00558.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 a0001c0001t0001g0053 a0001c0001t0001g0089 others(17): Show |
20 | 348 | 0.0575 | 21 | c.388 others(38): Show |
HOMER2 | ENSG00000103942.13 | transcript | ENST00000450735.7 | protein_coding | 4/8 | chr15 | TogoVar | |||||||
HOMER2_chr15_82843983_82957720 | 82928940 | T | TAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00597.hp1 HG01074.hp1 others(41): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0001c0001t0007a0005c0007t0001 | a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0062 others(41): Show |
44 | 348 | 0.1264 | 21 | c.5+2 others(36): Show |
HOMER2 | ENSG00000103942.13 | transcript | ENST00000450735.7 | protein_coding | 1/8 | chr15 | TogoVar | |||||||
HOOK3_chr8_42891978_43035535 | 43007016 | A | ATTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0001 | 1 | 162 | 0.0062 | 21 | c.165 others(38): Show |
HOOK3 | ENSG00000168172.9 | transcript | ENST00000307602.9 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
HORMAD2_chr22_30075464_30182075 | 30125216 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01106.hp1 HG01258.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0088 a0001c0001t0002g0025 others(8): Show |
12 | 350 | 0.0343 | 21 | c.819 others(38): Show |
HORMAD2 | ENSG00000176635.18 | transcript | ENST00000336726.11 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
HOXA13_chr7_27189364_27205091 | 27202822 | T | TAAAAAAA others(14): Show |
upstream_gene_variant | MODIFIER | HG01168.hp1 HG01175.hp2 HG02165.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 416 | 0.0072 | 21 | c.-27 others(32): Show |
HOXA13 | ENSG00000106031.9 | transcript | ENST00000649031.1 | protein_coding | 2732 | chr7 | TogoVar | |||||||
HOXA13_chr7_27189364_27205091 | 27202835 | A | AAAAAAAA others(14): Show |
upstream_gene_variant | MODIFIER | HG02486.hp2 HG03139.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 3 | 416 | 0.0072 | 21 | c.-27 others(32): Show |
HOXA13 | ENSG00000106031.9 | transcript | ENST00000649031.1 | protein_coding | 2745 | chr7 | TogoVar | |||||||
HOXA3_chr7_27102010_27157583 | 27140032 | A | AGAGAGAG others(14): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0190 | 1 | 326 | 0.0031 | 21 | c.-39 others(36): Show |
HOXA3 | ENSG00000105997.23 | transcript | ENST00000612286.5 | protein_coding | 2/5 | chr7 | TogoVar | |||||||
HOXA3_chr7_27102010_27157583 | 27150137 | A | ATCATGTT others(14): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(322): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 others(303): Show |
325 | 326 | 0.9969 | 21 | c.-49 others(40): Show |
HOXA3 | ENSG00000105997.23 | transcript | ENST00000612286.5 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
HOXA5_chr7_27136052_27148681 | 27140032 | A | AGAGAGAG others(14): Show |
downstream_gene_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0005 | 1 | 398 | 0.0025 | 21 | c.*18 others(32): Show |
HOXA5 | ENSG00000106004.5 | transcript | ENST00000222726.4 | protein_coding | 1019 | chr7 | TogoVar | |||||||
HOXA6_chr7_27140396_27152774 | 27150137 | A | ATCATGTT others(14): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(382): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0024 others(57): Show |
385 | 386 | 0.9974 | 21 | c.-23 others(32): Show |
HOXA6 | ENSG00000106006.6 | transcript | ENST00000222728.3 | protein_coding | 2364 | chr7 | TogoVar | |||||||
HOXA7_chr7_27148716_27161675 | 27150137 | A | ATCATGTT others(14): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(392): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(17): Show | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0014 others(22): Show |
395 | 396 | 0.9975 | 21 | c.*47 others(32): Show |
HOXA7 | ENSG00000122592.8 | transcript | ENST00000242159.5 | protein_coding | 3578 | chr7 | TogoVar | |||||||
HOXB13_chr17_48719763_48733750 | 48731314 | C | CAAAAAAA others(14): Show |
upstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0036 | 1 | 426 | 0.0024 | 21 | c.-27 others(32): Show |
HOXB13 | ENSG00000159184.8 | transcript | ENST00000290295.8 | protein_coding | 2565 | chr17 | TogoVar | |||||||
HOXB3_chr17_48543870_48595241 | 48564245 | G | GGCGGGCG others(14): Show |
intron_variant | MODIFIER | NA19083.hp2 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0340 a0001c0001t0004g0339 |
2 | 374 | 0.0054 | 21 | c.-24 others(40): Show |
HOXB3 | ENSG00000120093.12 | transcript | ENST00000498678.6 | protein_coding | 2/4 | chr17 | TogoVar | |||||||
HOXC8_chr12_54003985_54017769 | 54014000 | T | TTCTCTTC others(14): Show |
downstream_gene_variant | MODIFIER | HG01081.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0015 | a0001c0001t0002g0001 a0001c0001t0015g0001 |
2 | 306 | 0.0065 | 21 | c.*26 others(32): Show |
HOXC8 | ENSG00000037965.6 | transcript | ENST00000040584.6 | protein_coding | 1232 | chr12 | TogoVar | |||||||
HOXC8_chr12_54003985_54017769 | 54014000 | T | TTCTCTTC others(14): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0001 | 1 | 306 | 0.0033 | 21 | c.*26 others(32): Show |
HOXC8 | ENSG00000037965.6 | transcript | ENST00000040584.6 | protein_coding | 1232 | chr12 | TogoVar | |||||||
HOXC8_chr12_54003985_54017769 | 54014003 | T | TCTTCTCT others(14): Show |
downstream_gene_variant | MODIFIER | HG03710.hp1 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 306 | 0.0065 | 21 | c.*26 others(32): Show |
HOXC8 | ENSG00000037965.6 | transcript | ENST00000040584.6 | protein_coding | 1235 | chr12 | TogoVar | |||||||
HOXC8_chr12_54003985_54017769 | 54014004 | T | TCTCTTCT others(14): Show |
downstream_gene_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0001 | 1 | 306 | 0.0033 | 21 | c.*26 others(32): Show |
HOXC8 | ENSG00000037965.6 | transcript | ENST00000040584.6 | protein_coding | 1236 | chr12 | TogoVar | |||||||
HOXD10_chr2_176111778_176124937 | 176111826 | C | CAAAAAAA others(14): Show |
upstream_gene_variant | MODIFIER | HG01074.hp2 HG01517.hp1 HG01884.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0011a0001c0001t0013 | a0001c0001t0010g0002 a0001c0001t0011g0002 a0001c0001t0013g0002 |
4 | 428 | 0.0094 | 21 | c.-50 others(32): Show |
HOXD10 | ENSG00000128710.6 | transcript | ENST00000249501.5 | protein_coding | 4951 | chr2 | TogoVar | |||||||
HOXD11_chr2_176102280_176114754 | 176111826 | C | CAAAAAAA others(14): Show |
downstream_gene_variant | MODIFIER | HG01074.hp2 HG01517.hp1 HG01884.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0007 a0001c0001t0002g0027 a0001c0001t0003g0020 others(1): Show |
4 | 430 | 0.0093 | 21 | c.*26 others(32): Show |
HOXD11 | ENSG00000128713.14 | transcript | ENST00000249504.7 | protein_coding | 2073 | chr2 | TogoVar | |||||||
HPCAL1_chr2_10297904_10432604 | 10399221 | C | CACCACCA others(14): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02647.hp2 HG02717.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0157 a0001c0001t0002g0162 a0001c0001t0002g0232 others(2): Show |
5 | 314 | 0.0159 | 21 | c.-25 others(38): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399391 | C | CCATCACC others(14): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0203 | 1 | 314 | 0.0032 | 21 | c.-25 others(38): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HPGD_chr4_174485175_174527488 | 174497568 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02559.hp2 HG04199.hp1 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0005 | a0001c0002t0003g0118 a0001c0002t0005g0139 |
2 | 414 | 0.0048 | 21 | c.422 others(38): Show |
HPGD | ENSG00000164120.14 | transcript | ENST00000296522.11 | protein_coding | 4/6 | chr4 | TogoVar | |||||||
HPS4_chr22_26445882_26488783 | 26483980 | G | GGAGGCGG others(14): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 | a0003 | a0003c0003 | a0003c0003t0071 | a0003c0003t0071g0086 | 1 | 404 | 0.0025 | 21 | c.-80 others(30): Show |
HPS4 | ENSG00000100099.22 | transcript | ENST00000398145.7 | protein_coding | 198 | chr22 | TogoVar | |||||||
HPS5_chr11_18273676_18327140 | 18302831 | G | GGGGGGGG others(14): Show |
intron_variant | MODIFIER | HG01496.hp1 NA19030.hp2 |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0061 a0001c0003t0004g0062 |
2 | 372 | 0.0054 | 21 | c.897 others(38): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | TogoVar | |||||||
HPSE2_chr10_98452077_99240852 | 98688465 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02258.hp1 HG02622.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0005a0002c0002t0002others(1): Show | a0001c0001t0004g0088 a0001c0001t0005g0066 a0002c0002t0002g0061 others(1): Show |
4 | 142 | 0.0282 | 21 | c.100 others(40): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
HPSE2_chr10_98452077_99240852 | 99132197 | G | GAAAGAAA others(14): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0005 | 1 | 142 | 0.0070 | 21 | c.610 others(40): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 3/11 | chr10 | TogoVar | |||||||
HPSE2_chr10_98452077_99240852 | 99132197 | G | GAAAGAAA others(14): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 142 | 0.0070 | 21 | c.610 others(40): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 3/11 | chr10 | TogoVar | |||||||
HRCT1_chr9_35901202_35912136 | 35906578 | T | TCACCACC others(14): Show |
disruptive_inframe_insertion | MODERATE | NA20805.hp2 | a0062 | a0062c0076 | a0062c0076t0001 | a0062c0076t0001g0000 | 1 | 430 | 0.0023 | 21 | c.310 others(28): Show |
p.His others(34): Show |
HRCT1 | ENSG00000196196.3 | transcript | ENST00000354323.3 | protein_coding | 1/1 | 397/935 | 311/348 | 104/115 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
HRC_chr19_49146198_49160396 | 49157344 | A | ACTCTCTC others(14): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 406 | 0.0025 | 21 | c.-21 others(32): Show |
HRC | ENSG00000130528.12 | transcript | ENST00000252825.9 | protein_coding | 1949 | chr19 | TogoVar | |||||||
HRH3_chr20_62209960_62225278 | 62212931 | C | CGGGGATG others(14): Show |
downstream_gene_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 368 | 0.0027 | 21 | c.*30 others(32): Show |
HRH3 | ENSG00000101180.17 | transcript | ENST00000340177.10 | protein_coding | 2028 | chr20 | TogoVar | |||||||
HRH3_chr20_62209960_62225278 | 62213115 | C | CGGGGATG others(14): Show |
downstream_gene_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0003 | 1 | 368 | 0.0027 | 21 | c.*28 others(32): Show |
HRH3 | ENSG00000101180.17 | transcript | ENST00000340177.10 | protein_coding | 1844 | chr20 | TogoVar | |||||||
HRH3_chr20_62209960_62225278 | 62213169 | G | GGGGGGTA others(14): Show |
downstream_gene_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 368 | 0.0027 | 21 | c.*28 others(32): Show |
HRH3 | ENSG00000101180.17 | transcript | ENST00000340177.10 | protein_coding | 1790 | chr20 | TogoVar | |||||||
HRH3_chr20_62209960_62225278 | 62213273 | G | GGGGATGG others(14): Show |
downstream_gene_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 368 | 0.0027 | 21 | c.*27 others(32): Show |
HRH3 | ENSG00000101180.17 | transcript | ENST00000340177.10 | protein_coding | 1686 | chr20 | TogoVar | |||||||
HRH3_chr20_62209960_62225278 | 62213494 | G | GGGATGGG others(14): Show |
downstream_gene_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 368 | 0.0027 | 21 | c.*25 others(32): Show |
HRH3 | ENSG00000101180.17 | transcript | ENST00000340177.10 | protein_coding | 1465 | chr20 | TogoVar | |||||||
HS2ST1_chr1_86909635_87114982 | 86990837 | T | TATATATA others(14): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0094 | 1 | 154 | 0.0065 | 21 | c.124 others(40): Show |
HS2ST1 | ENSG00000153936.18 | transcript | ENST00000370550.10 | protein_coding | 1/6 | chr1 | TogoVar |