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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HNF4A_chr20_44350699_44437845 | 44432344 | CTTTTTTT | C | 3_prime_UTR_variant | MODIFIER | HG01975.hp1 HG02622.hp2 HG02723.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0030a0001c0001t0032a0001c0001t0048others(2): Show | a0001c0001t0030g0204a0001c0001t0030g0205a0001c0001t0032g0023others(4): Show | 7 | 322 | 0.0217 | -7 | c.*26 others(18): Show |
HNF4A | ENSG00000101076.20 | transcript | ENST00000316673.9 | protein_coding | 10/10 | 2697 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||
HNF4A_chr20_44350699_44437845 | 44435174 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(62): Show |
a0001 | a0001c0001a0001c0003a0001c0013 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0017a0001c0001t0001g0065a0001c0001t0001g0212others(61): Show | 65 | 322 | 0.2019 | -7 | c.*55 others(18): Show |
HNF4A | ENSG00000101076.20 | transcript | ENST00000316673.9 | protein_coding | 2330 | chr20 | TogoVar | ||||||
HNF4A_chr20_44350699_44437845 | 44437767 | ATATATAT | A | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02965.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0027a0001c0001t0049 | a0001c0001t0027g0010a0001c0001t0027g0011a0001c0001t0049g0009 | 3 | 322 | 0.0093 | -7 | c.*81 others(18): Show |
HNF4A | ENSG00000101076.20 | transcript | ENST00000316673.9 | protein_coding | 4923 | chr20 | TogoVar | ||||||
HNF4G_chr8_75534869_75571834 | 75541557 | TACTCAGA | T | intron_variant | MODIFIER | HG00323.hp2 HG00733.hp1 HG01168.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0016a0001c0001t0007g0028a0001c0001t0007g0054others(4): Show | 10 | 394 | 0.0254 | -7 | c.118 others(24): Show |
HNF4G | ENSG00000164749.13 | transcript | ENST00000396423.4 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
HNMT_chr2_137959473_138021364 | 137970934 | AAAGAAAG | A | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00597.hp2 others(15): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0010a0001c0001t0001g0078a0001c0001t0001g0079others(11): Show | 18 | 332 | 0.0542 | -7 | c.190 others(22): Show |
HNMT | ENSG00000150540.14 | transcript | ENST00000280097.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
HNRNPC_chr14_21204147_21274442 | 21216120 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00733.hp1 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014a0001c0001t0022 | a0001c0001t0001g0126a0001c0001t0001g0128a0001c0001t0001g0133others(28): Show | 31 | 388 | 0.0799 | -7 | c.366 others(24): Show |
HNRNPC | ENSG00000092199.19 | transcript | ENST00000553300.6 | protein_coding | 5/8 | chr14 | TogoVar | ||||||
HNRNPC_chr14_21204147_21274442 | 21218681 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(55): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0253a0001c0001t0002g0002a0001c0001t0002g0003others(53): Show | 58 | 388 | 0.1495 | -7 | c.366 others(24): Show |
HNRNPC | ENSG00000092199.19 | transcript | ENST00000553300.6 | protein_coding | 5/8 | chr14 | TogoVar | ||||||
HNRNPC_chr14_21204147_21274442 | 21267095 | CAAAAAAA | C | intron_variant | MODIFIER | HG01109.hp1 HG02055.hp1 HG02630.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0134a0001c0001t0001g0135a0001c0001t0001g0137others(4): Show | 7 | 388 | 0.0180 | -7 | c.-63 others(24): Show |
HNRNPC | ENSG00000092199.19 | transcript | ENST00000553300.6 | protein_coding | 1/8 | chr14 | TogoVar | ||||||
HNRNPC_chr14_21204147_21274442 | 21270408 | CTTTTTTT | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00733.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014a0001c0001t0022 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0133others(26): Show | 29 | 388 | 0.0747 | -7 | c.-11 others(18): Show |
HNRNPC | ENSG00000092199.19 | transcript | ENST00000553300.6 | protein_coding | 967 | chr14 | TogoVar | ||||||
HNRNPDL_chr4_82417569_82435462 | 82419817 | AAAAAAAG | A | downstream_gene_variant | MODIFIER | HG00639.hp2 HG01192.hp2 HG02602.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 8 | 348 | 0.0230 | -7 | c.*50 others(18): Show |
HNRNPDL | ENSG00000152795.18 | transcript | ENST00000295470.10 | protein_coding | 2751 | chr4 | TogoVar | ||||||
HNRNPD_chr4_82347498_82378991 | 82349412 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp2 others(63): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0010others(2): Show | a0001c0001t0002g0012a0001c0001t0002g0032a0001c0001t0002g0033others(28): Show | 66 | 332 | 0.1988 | -7 | c.*47 others(18): Show |
HNRNPD | ENSG00000138668.20 | transcript | ENST00000313899.12 | protein_coding | 3085 | chr4 | TogoVar | ||||||
HNRNPH2_chrX_101403222_101419133 | 101411404 | ATTTTTTT | A | intron_variant | MODIFIER | HG00323.hp2 HG02738.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0023a0001c0001t0005g0032 | 2 | 308 | 0.0065 | -7 | c.-53 others(22): Show |
HNRNPH2 | ENSG00000126945.9 | transcript | ENST00000316594.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
HNRNPLL_chr2_38556969_38607928 | 38565727 | CAAAAAAA | C | intron_variant | MODIFIER | HG00544.hp1 HG00639.hp2 HG00741.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025a0001c0001t0001g0136a0001c0001t0001g0208others(3): Show | 7 | 338 | 0.0207 | -7 | c.157 others(26): Show |
HNRNPLL | ENSG00000143889.16 | transcript | ENST00000449105.8 | protein_coding | 12/12 | chr2 | TogoVar | ||||||
HNRNPUL2_chr11_62707630_62732457 | 62720546 | CAAAAAAA | C | intron_variant | MODIFIER | HG01106.hp2 HG01496.hp1 HG01884.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0015 | a0001c0001t0008g0014a0001c0001t0008g0124a0001c0001t0015g0024 | 8 | 352 | 0.0227 | -7 | c.161 others(24): Show |
HNRNPUL2 | ENSG00000214753.4 | transcript | ENST00000301785.7 | protein_coding | 9/13 | chr11 | TogoVar | ||||||
HOMER1_chr5_79367636_79519134 | 79387085 | CTCTCTCT | C | intron_variant | MODIFIER | HG00741.hp1 HG02572.hp2 HG02965.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006a0001c0001t0029others(2): Show | a0001c0001t0005g0132a0001c0001t0005g0145a0001c0001t0005g0158others(5): Show | 8 | 290 | 0.0276 | -7 | c.876 others(24): Show |
HOMER1 | ENSG00000152413.15 | transcript | ENST00000334082.11 | protein_coding | 8/8 | chr5 | TogoVar | ||||||
HOMER1_chr5_79367636_79519134 | 79491075 | CAAAAAAA | C | intron_variant | MODIFIER | HG01175.hp1 HG01496.hp1 HG01978.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0184a0001c0001t0001g0280a0001c0001t0002g0096others(6): Show | 9 | 290 | 0.0310 | -7 | c.5+2 others(22): Show |
HOMER1 | ENSG00000152413.15 | transcript | ENST00000334082.11 | protein_coding | 1/8 | chr5 | TogoVar | ||||||
HOOK1_chr1_59809949_59881322 | 59819138 | ATTTTTTT | A | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00642.hp2 others(22): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0003c0009others(1): Show | a0001c0001t0043a0001c0001t0057a0001c0002t0004others(4): Show | a0001c0001t0043g0213a0001c0001t0057g0173a0001c0002t0004g0003others(19): Show | 25 | 252 | 0.0992 | -7 | c.64- others(22): Show |
HOOK1 | ENSG00000134709.13 | transcript | ENST00000371208.5 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HOOK1_chr1_59809949_59881322 | 59854032 | ATATATAT | A | intron_variant | MODIFIER | HG02257.hp1 HG03130.hp2 NA18965.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0108a0001c0001t0002g0005a0001c0001t0006g0005others(2): Show | 5 | 252 | 0.0198 | -7 | c.124 others(26): Show |
HOOK1 | ENSG00000134709.13 | transcript | ENST00000371208.5 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HOOK1_chr1_59809949_59881322 | 59854034 | ATATATTT | A | intron_variant | MODIFIER | HG01928.hp2 NA18939.hp1 NA18940.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0004 | a0001c0001t0002g0002a0001c0001t0002g0160a0001c0002t0004g0223 | 5 | 252 | 0.0198 | -7 | c.124 others(26): Show |
HOOK1 | ENSG00000134709.13 | transcript | ENST00000371208.5 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HOPX_chr4_56642998_56686296 | 56651908 | GTGTGTGT | G | intron_variant | MODIFIER | HG02165.hp2 NA18964.hp1 NA18972.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102a0001c0001t0001g0109a0001c0001t0001g0282 | 3 | 376 | 0.0080 | -7 | c.199 others(24): Show |
HOPX | ENSG00000171476.23 | transcript | ENST00000420433.6 | protein_coding | 3/3 | chr4 | TogoVar | ||||||
HOPX_chr4_56642998_56686296 | 56656484 | GCCGGCCT | G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(173): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(137): Show | 176 | 376 | 0.4681 | -7 | c.43- others(20): Show |
HOPX | ENSG00000171476.23 | transcript | ENST00000420433.6 | protein_coding | 2/3 | chr4 | TogoVar | ||||||
HORMAD2_chr22_30075464_30182075 | 30127199 | CTTTTTTT | C | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG00639.hp1 others(41): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0003c0004t0001 | a0001c0001t0001g0007a0001c0001t0001g0265a0001c0001t0001g0266others(41): Show | 44 | 350 | 0.1257 | -7 | c.819 others(24): Show |
HORMAD2 | ENSG00000176635.18 | transcript | ENST00000336726.11 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
HORMAD2_chr22_30075464_30182075 | 30178134 | GAGTAATT | G | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00639.hp1 others(45): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0007a0001c0001t0001g0265a0001c0001t0001g0266others(45): Show | 48 | 350 | 0.1371 | -7 | c.*19 others(18): Show |
HORMAD2 | ENSG00000176635.18 | transcript | ENST00000336726.11 | protein_coding | 1060 | chr22 | TogoVar | ||||||
HOXA3_chr7_27102010_27157583 | 27123866 | ACGCTGCG | A | intron_variant | MODIFIER | HG02280.hp1 HG02630.hp2 HG02922.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0019a0002c0002t0014 | a0001c0001t0019g0014a0001c0001t0019g0214a0002c0002t0014g0215others(3): Show | 7 | 326 | 0.0215 | -7 | c.-20 others(26): Show |
HOXA3 | ENSG00000105997.23 | transcript | ENST00000612286.5 | protein_coding | 3/5 | chr7 | TogoVar | ||||||
HOXA4_chr7_27123525_27135757 | 27123866 | ACGCTGCG | A | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02280.hp1 HG02630.hp1 others(5): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0005t0002 | a0001c0001t0002g0005a0001c0005t0002g0007 | 8 | 406 | 0.0197 | -7 | c.*53 others(18): Show |
HOXA4 | ENSG00000197576.15 | transcript | ENST00000360046.10 | protein_coding | 4658 | chr7 | TogoVar | ||||||
HOXB2_chr17_48537655_48550109 | 48538808 | TAAAAAAA | T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00642.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0010 | a0001c0001t0002g0002a0001c0001t0002g0006a0001c0001t0006g0008others(1): Show | 13 | 426 | 0.0305 | -7 | c.*42 others(18): Show |
HOXB2 | ENSG00000173917.11 | transcript | ENST00000330070.6 | protein_coding | 3846 | chr17 | TogoVar | ||||||
HOXB2_chr17_48537655_48550109 | 48546065 | TAAAAAAG | T | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00558.hp1 others(34): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(1): Show | a0001c0001t0001g0001a0001c0001t0003g0003a0001c0001t0014g0025others(1): Show | 37 | 426 | 0.0869 | -7 | c.-11 others(18): Show |
HOXB2 | ENSG00000173917.11 | transcript | ENST00000330070.6 | protein_coding | 957 | chr17 | TogoVar | ||||||
HOXB3_chr17_48543870_48595241 | 48546065 | TAAAAAAG | T | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00558.hp1 others(31): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0001a0002c0002t0003others(6): Show | a0001c0001t0005g0261a0002c0002t0001g0110a0002c0002t0001g0128others(31): Show | 34 | 374 | 0.0909 | -7 | c.*42 others(18): Show |
HOXB3 | ENSG00000120093.12 | transcript | ENST00000498678.6 | protein_coding | 2804 | chr17 | TogoVar | ||||||
HOXC12_chr12_53949903_53963956 | 53954776 | GGGATGGT | G | upstream_gene_variant | MODIFIER | HG02145.hp2 HG02280.hp1 HG02486.hp2 others(17): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0003g0002a0001c0001t0003g0010a0001c0001t0004g0008others(3): Show | 20 | 424 | 0.0472 | -7 | c.-15 others(16): Show |
HOXC12 | ENSG00000123407.4 | transcript | ENST00000243103.4 | protein_coding | 126 | chr12 | TogoVar | ||||||
HOXC13_chr12_53933831_53951544 | 53942154 | CTTTTTTT | C | intron_variant | MODIFIER | HG02109.hp1 HG02258.hp1 HG02818.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0037a0001c0001t0002g0046a0001c0001t0005g0026others(1): Show | 6 | 402 | 0.0149 | -7 | c.736 others(24): Show |
HOXC13 | ENSG00000123364.5 | transcript | ENST00000243056.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
HOXD3_chr2_176152307_176178098 | 176167686 | CTTTTTTT | C | intron_variant | MODIFIER | HG00738.hp2 HG01070.hp2 HG01106.hp2 others(42): Show |
a0001a0003 | a0001c0003a0001c0004a0003c0008 | a0001c0003t0003a0001c0003t0005a0001c0004t0001others(1): Show | a0001c0003t0003g0004a0001c0003t0003g0008a0001c0003t0003g0031others(15): Show | 45 | 332 | 0.1355 | -7 | c.-84 others(24): Show |
HOXD3 | ENSG00000128652.12 | transcript | ENST00000683222.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
HPCAL1_chr2_10297904_10432604 | 10299674 | CAACAACA | C | upstream_gene_variant | MODIFIER | HG02965.hp1 HG02970.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006 | a0001c0001t0001g0297a0001c0001t0005g0295a0001c0001t0006g0296 | 3 | 314 | 0.0096 | -7 | c.-36 others(18): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 3229 | chr2 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10349702 | CAAAAAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp2 HG01070.hp1 others(34): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0020a0001c0001t0001g0038a0001c0001t0001g0072others(34): Show | 37 | 314 | 0.1178 | -7 | c.-11 others(28): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
HPCAL4_chr1_39673648_39696433 | 39695452 | GGAAGAAA | G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(233): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(22): Show | a0001c0001t0001g0001a0001c0001t0001g0014a0001c0001t0001g0015others(67): Show | 236 | 420 | 0.5619 | -7 | c.-41 others(18): Show |
HPCAL4 | ENSG00000116983.13 | transcript | ENST00000372844.8 | protein_coding | 4020 | chr1 | TogoVar | ||||||
HPD_chr12_121834527_121863859 | 121844895 | TAAATAAA | T | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG00609.hp1 others(53): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0010t0001 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(36): Show | 56 | 406 | 0.1379 | -7 | c.832 others(24): Show |
HPD | ENSG00000158104.11 | transcript | ENST00000289004.8 | protein_coding | 11/13 | chr12 | TogoVar | ||||||
HPD_chr12_121834527_121863859 | 121852622 | CTTTTTTT | C | intron_variant | MODIFIER | HG01168.hp2 HG01255.hp1 HG01261.hp1 others(9): Show |
a0001a0004a0005 | a0001c0001a0004c0006a0005c0005 | a0001c0001t0001a0004c0006t0001a0005c0005t0001 | a0001c0001t0001g0156a0001c0001t0001g0157a0001c0001t0001g0174others(9): Show | 12 | 406 | 0.0296 | -7 | c.414 others(24): Show |
HPD | ENSG00000158104.11 | transcript | ENST00000289004.8 | protein_coding | 7/13 | chr12 | TogoVar | ||||||
HPF1_chr4_169724470_169762944 | 169743408 | CCTTTTTT | C | intron_variant | MODIFIER | HG02615.hp2 HG02818.hp1 HG02922.hp1 others(4): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0014a0001c0004t0001g0071a0001c0004t0001g0072others(3): Show | 7 | 320 | 0.0219 | -7 | c.498 others(24): Show |
HPF1 | ENSG00000056050.7 | transcript | ENST00000393381.3 | protein_coding | 4/7 | chr4 | TogoVar | ||||||
HPN_chr19_35036721_35071573 | 35048069 | AAAGAAAG | A | intron_variant | MODIFIER | HG02647.hp1 HG02965.hp2 NA18954.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0159a0001c0001t0002g0266a0001c0001t0002g0273 | 3 | 384 | 0.0078 | -7 | c.17- others(22): Show |
HPN | ENSG00000105707.15 | transcript | ENST00000672452.2 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
HPN_chr19_35036721_35071573 | 35064149 | TCAGCAGG | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(307): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(271): Show | 310 | 384 | 0.8073 | -7 | c.812 others(24): Show |
HPN | ENSG00000105707.15 | transcript | ENST00000672452.2 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
HPRT1_chrX_134455165_134505668 | 134499482 | CAAAACAA | C | intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 276 | 0.0036 | -7 | c.610 others(22): Show |
HPRT1 | ENSG00000165704.15 | transcript | ENST00000298556.8 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
HPS1_chr10_98411198_98451935 | 98451262 | TATCTATC | T | upstream_gene_variant | MODIFIER | HG02257.hp1 HG02280.hp2 HG02559.hp1 others(4): Show |
a0001a0023 | a0001c0001a0023c0034 | a0001c0001t0003a0001c0001t0005a0023c0034t0003 | a0001c0001t0003g0013a0001c0001t0003g0163a0001c0001t0005g0197others(2): Show | 7 | 434 | 0.0161 | -7 | c.-45 others(18): Show |
HPS1 | ENSG00000107521.21 | transcript | ENST00000361490.9 | protein_coding | 4328 | chr10 | TogoVar | ||||||
HPSE2_chr10_98452077_99240852 | 98542026 | TCCCTGAC | T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(122): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(30): Show | a0001c0001t0001g0009a0001c0001t0001g0011a0001c0001t0001g0013others(122): Show | 125 | 142 | 0.8803 | -7 | c.132 others(28): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 9/11 | chr10 | TogoVar | ||||||
HPSE2_chr10_98452077_99240852 | 98544712 | CAAAAAAA | C | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00438.hp1 others(65): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(18): Show | a0001c0001t0001g0019a0001c0001t0001g0034a0001c0001t0001g0038others(65): Show | 68 | 142 | 0.4789 | -7 | c.132 others(28): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 9/11 | chr10 | TogoVar | ||||||
HPSE2_chr10_98452077_99240852 | 99094540 | ATTTTTTT | A | intron_variant | MODIFIER | HG03490.hp1 NA18946.hp1 NA18950.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0008a0002c0002t0002 | a0001c0001t0001g0036a0001c0001t0001g0051a0001c0001t0001g0055others(4): Show | 7 | 142 | 0.0493 | -7 | c.610 others(26): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 3/11 | chr10 | TogoVar | ||||||
HPSE2_chr10_98452077_99240852 | 99117417 | GAAAAAAA | G | intron_variant | MODIFIER | HG00438.hp2 HG01993.hp2 NA18965.hp1 others(3): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0001a0001c0001t0004a0002c0002t0002others(2): Show | a0001c0001t0001g0036a0001c0001t0004g0115a0002c0002t0002g0043others(3): Show | 6 | 142 | 0.0423 | -7 | c.610 others(26): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 3/11 | chr10 | TogoVar | ||||||
HPSE2_chr10_98452077_99240852 | 99169504 | CAAAAAAA | C | intron_variant | MODIFIER | HG00323.hp2 HG01255.hp2 HG02055.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0008a0002c0002t0002others(2): Show | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0020others(7): Show | 10 | 142 | 0.0704 | -7 | c.449 others(26): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 2/11 | chr10 | TogoVar | ||||||
HPSE2_chr10_98452077_99240852 | 99180889 | CAAAAAAA | C | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0086a0001c0001t0001g0116a0001c0001t0001g0117others(6): Show | 9 | 142 | 0.0634 | -7 | c.449 others(26): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 2/11 | chr10 | TogoVar | ||||||
HPSE2_chr10_98452077_99240852 | 99186542 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00423.hp1 others(44): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(14): Show | a0001c0001t0001g0009a0001c0001t0001g0019a0001c0001t0001g0034others(44): Show | 47 | 142 | 0.3310 | -7 | c.449 others(26): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 2/11 | chr10 | TogoVar | ||||||
HPX_chr11_6426049_6445987 | 6440567 | TAAAAAAA | T | intron_variant | MODIFIER | HG02109.hp1 HG02559.hp2 HG02647.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(1): Show | a0001c0001t0001g0046a0001c0001t0001g0102a0001c0002t0001g0044others(6): Show | 13 | 432 | 0.0301 | -7 | c.143 others(20): Show |
HPX | ENSG00000110169.12 | transcript | ENST00000265983.8 | protein_coding | 2/9 | chr11 | TogoVar | ||||||
HRH1_chr3_11149493_11268557 | 11208153 | CTTTTTTT | C | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00544.hp1 others(82): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0008a0001c0001t0001g0075a0001c0001t0001g0076others(82): Show | 85 | 352 | 0.2415 | -7 | c.-35 others(26): Show |
HRH1 | ENSG00000196639.7 | transcript | ENST00000431010.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |