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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GRIN3A_chr9_101564352_101743647 | 101659358 | TGTATCTA others(22): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG00733.hp1 HG01099.hp1 others(16): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0029others(6): Show | a0001c0001t0001a0001c0001t0009a0001c0003t0007others(8): Show | a0001c0001t0001g0193a0001c0001t0009g0200a0001c0003t0007g0239others(16): Show | 19 | 324 | 0.0586 | -29 | c.235 others(50): Show |
GRIN3A | ENSG00000198785.7 | transcript | ENST00000361820.6 | protein_coding | 3/8 | chr9 | TogoVar | ||||||
GRIN3B_chr19_995419_1014732 | 995580 | TGTGTTCT others(22): Show |
T | upstream_gene_variant | MODIFIER | NA19003.hp1 | a0096 | a0096c0083 | a0096c0083t0001 | a0096c0083t0001g0101 | 1 | 446 | 0.0022 | -29 | c.-48 others(40): Show |
GRIN3B | ENSG00000116032.5 | transcript | ENST00000234389.3 | protein_coding | 4838 | chr19 | TogoVar | ||||||
GRIP1_chr12_66342431_66684076 | 66531245 | AAAAAAAA others(22): Show |
A | intron_variant | MODIFIER | HG01123.hp1 NA18944.hp2 NA18964.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0065a0001c0001t0008g0118a0001c0001t0008g0127 | 3 | 224 | 0.0134 | -29 | c.419 others(46): Show |
GRIP1 | ENSG00000155974.14 | transcript | ENST00000359742.9 | protein_coding | 4/24 | chr12 | TogoVar | ||||||
GRIP1_chr12_66342431_66684076 | 66531247 | AAAAAAAT others(22): Show |
A | intron_variant | MODIFIER | HG00558.hp2 HG00733.hp2 HG01167.hp1 others(16): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(3): Show | a0001c0001t0001g0121a0001c0001t0001g0125a0001c0001t0001g0126others(16): Show | 19 | 224 | 0.0848 | -29 | c.419 others(46): Show |
GRIP1 | ENSG00000155974.14 | transcript | ENST00000359742.9 | protein_coding | 4/24 | chr12 | TogoVar | ||||||
GRIP1_chr12_66342431_66684076 | 66531249 | AAAAATAT others(22): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp1 HG01256.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008 | a0001c0001t0001g0022a0001c0001t0001g0029a0001c0001t0001g0040others(5): Show | 8 | 224 | 0.0357 | -29 | c.419 others(46): Show |
GRIP1 | ENSG00000155974.14 | transcript | ENST00000359742.9 | protein_coding | 4/24 | chr12 | TogoVar | ||||||
GRIP1_chr12_66342431_66684076 | 66531251 | AAATATAT others(22): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG01081.hp2 others(24): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0084a0001c0001t0001g0122a0001c0001t0001g0148others(24): Show | 27 | 224 | 0.1205 | -29 | c.419 others(46): Show |
GRIP1 | ENSG00000155974.14 | transcript | ENST00000359742.9 | protein_coding | 4/24 | chr12 | TogoVar | ||||||
GRIP1_chr12_66342431_66684076 | 66531253 | ATATATAT others(22): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00621.hp2 HG01167.hp2 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0198a0001c0001t0001g0214a0001c0001t0002g0082others(14): Show | 17 | 224 | 0.0759 | -29 | c.419 others(46): Show |
GRIP1 | ENSG00000155974.14 | transcript | ENST00000359742.9 | protein_coding | 4/24 | chr12 | TogoVar | ||||||
GRK5_chr10_119202571_119464745 | 119452325 | TGAGCCCT others(22): Show |
T | intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 202 | 0.0050 | -29 | c.140 others(46): Show |
GRK5 | ENSG00000198873.12 | transcript | ENST00000392870.3 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
GRM5_chr11_88499642_89070982 | 88978474 | TAAAAAAA others(22): Show |
T | intron_variant | MODIFIER | HG02451.hp2 HG02572.hp1 HG02886.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0176a0001c0001t0002g0179a0001c0001t0003g0178others(4): Show | 7 | 184 | 0.0380 | -29 | c.661 others(48): Show |
GRM5 | ENSG00000168959.15 | transcript | ENST00000305447.5 | protein_coding | 2/9 | chr11 | TogoVar | ||||||
GRM7_chr3_6856115_7746533 | 7607294 | AAGCATTG others(22): Show |
A | intron_variant | MODIFIER | HG02976.hp1 HG03579.hp2 |
a0001 | a0001c0001a0001c0011 | a0001c0001t0002a0001c0011t0002 | a0001c0001t0002g0025a0001c0011t0002g0078 | 2 | 80 | 0.0250 | -29 | c.245 others(50): Show |
GRM7 | ENSG00000196277.17 | transcript | ENST00000357716.9 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GRM8_chr7_126433598_127257941 | 126643306 | AAAAAAAA others(22): Show |
A | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 108 | 0.0093 | -29 | c.135 others(50): Show |
GRM8 | ENSG00000179603.19 | transcript | ENST00000339582.7 | protein_coding | 7/10 | chr7 | TogoVar | ||||||
GRP_chr18_59215158_59235771 | 59227037 | CTTTCTTT others(22): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG03669.hp1 |
a0001a0002 | a0001c0004a0002c0003 | a0001c0004t0002a0002c0003t0003 | a0001c0004t0002g0062a0002c0003t0003g0065 | 2 | 408 | 0.0049 | -29 | c.382 others(46): Show |
GRP | ENSG00000134443.10 | transcript | ENST00000256857.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
GSDMC_chr8_129743196_129791624 | 129744048 | CTCCCTCT others(22): Show |
C | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00558.hp2 others(189): Show |
a0001a0003a0005others(6): Show | a0001c0001a0001c0009a0001c0011others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(120): Show | 192 | 416 | 0.4615 | -29 | c.*44 others(40): Show |
GSDMC | ENSG00000147697.10 | transcript | ENST00000276708.9 | protein_coding | 4147 | chr8 | TogoVar | ||||||
GSK3A_chr19_42225190_42247602 | 42238268 | TGCTTGAA others(22): Show |
T | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 224 | 0.0045 | -29 | c.472 others(46): Show |
GSK3A | ENSG00000105723.13 | transcript | ENST00000222330.8 | protein_coding | 2/10 | chr19 | TogoVar | ||||||
GSKIP_chr14_96358526_96392288 | 96391572 | CCAGACTT others(22): Show |
C | downstream_gene_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0056 | 1 | 408 | 0.0025 | -29 | c.*58 others(40): Show |
GSKIP | ENSG00000100744.15 | transcript | ENST00000555181.6 | protein_coding | 4285 | chr14 | TogoVar | ||||||
GSTM4_chr1_109651099_109666700 | 109654199 | GAAAAGAA others(22): Show |
G | upstream_gene_variant | MODIFIER | HG01192.hp1 NA18962.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001a0001c0001t0002g0013 | 2 | 364 | 0.0055 | -29 | c.-21 others(40): Show |
GSTM4 | ENSG00000168765.19 | transcript | ENST00000369836.9 | protein_coding | 1899 | chr1 | TogoVar | ||||||
GSTO1_chr10_104249892_104272455 | 104270484 | TATTTATT others(22): Show |
T | downstream_gene_variant | MODIFIER | NA19002.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0007 | 1 | 378 | 0.0027 | -29 | c.*30 others(40): Show |
GSTO1 | ENSG00000148834.13 | transcript | ENST00000369713.10 | protein_coding | 3030 | chr10 | TogoVar | ||||||
GTDC1_chr2_143933068_144337512 | 144182789 | ATATATAT others(22): Show |
A | intron_variant | MODIFIER | HG02809.hp1 HG02809.hp2 HG02886.hp1 others(2): Show |
a0002a0003a0007 | a0002c0005a0003c0004a0007c0009 | a0002c0005t0001a0003c0004t0005a0003c0004t0014others(1): Show | a0002c0005t0001g0086a0003c0004t0005g0088a0003c0004t0014g0083others(2): Show | 5 | 124 | 0.0403 | -29 | c.179 others(48): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | TogoVar | ||||||
GTF2E2_chr8_30573318_30663236 | 30656933 | AAATCTGA others(22): Show |
A | intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252 | 1 | 378 | 0.0027 | -29 | c.-5+ others(44): Show |
GTF2E2 | ENSG00000197265.9 | transcript | ENST00000355904.9 | protein_coding | 1/7 | chr8 | TogoVar | ||||||
GTF3C1_chr16_27455613_27554913 | 27521019 | TCCCCAAT others(22): Show |
T | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0024 | a0001c0024t0001 | a0001c0024t0001g0193 | 1 | 220 | 0.0046 | -29 | c.973 others(46): Show |
GTF3C1 | ENSG00000077235.18 | transcript | ENST00000356183.9 | protein_coding | 6/36 | chr16 | TogoVar | ||||||
GUCY2C_chr12_14607632_14701599 | 14696937 | GTATATAT others(22): Show |
G | upstream_gene_variant | MODIFIER | HG00438.hp1 HG02717.hp2 HG02723.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0106a0001c0002t0001g0149a0001c0002t0001g0150others(5): Show | 8 | 236 | 0.0339 | -29 | c.-51 others(38): Show |
GUCY2C | ENSG00000070019.5 | transcript | ENST00000261170.5 | protein_coding | 339 | chr12 | TogoVar | ||||||
GUCY2C_chr12_14607632_14701599 | 14697001 | ATATATAT others(22): Show |
A | upstream_gene_variant | MODIFIER | HG01167.hp1 NA18943.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038a0001c0001t0001g0069 | 2 | 236 | 0.0085 | -29 | c.-58 others(38): Show |
GUCY2C | ENSG00000070019.5 | transcript | ENST00000261170.5 | protein_coding | 403 | chr12 | TogoVar | ||||||
H2AC6_chr6_26119172_26129690 | 26127447 | TAGAGGCT others(22): Show |
T | downstream_gene_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 396 | 0.0025 | -29 | c.*28 others(40): Show |
H2AC6 | ENSG00000180573.10 | transcript | ENST00000377791.4 | protein_coding | 2758 | chr6 | TogoVar | ||||||
H2BC4_chr6_26118467_26128926 | 26127447 | TAGAGGCT others(22): Show |
T | upstream_gene_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 402 | 0.0025 | -29 | c.-35 others(40): Show |
H2BC4 | ENSG00000180596.9 | transcript | ENST00000396984.2 | protein_coding | 3522 | chr6 | TogoVar | ||||||
H3C11_chr6_27866845_27877346 | 27876576 | TAAAAAAA others(22): Show |
T | upstream_gene_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 374 | 0.0027 | -29 | c.-42 others(40): Show |
H3C11 | ENSG00000275379.2 | transcript | ENST00000616365.2 | protein_coding | 4231 | chr6 | TogoVar | ||||||
H4C13_chr6_27868148_27878534 | 27876576 | TAAAAAAA others(22): Show |
T | upstream_gene_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 384 | 0.0026 | -29 | c.-30 others(40): Show |
H4C13 | ENSG00000275126.2 | transcript | ENST00000618305.2 | protein_coding | 3043 | chr6 | TogoVar | ||||||
H4C15_chr1_149855764_149866159 | 149865949 | AAGAAAGA others(22): Show |
A | upstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 206 | 0.0049 | -29 | c.-48 others(40): Show |
H4C15 | ENSG00000270276.3 | transcript | ENST00000579512.3 | protein_coding | 4791 | chr1 | TogoVar | ||||||
HACD3_chr15_65525463_65583349 | 65537945 | AAAAAAAA others(22): Show |
A | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0293 | 1 | 328 | 0.0031 | -29 | c.87+ others(44): Show |
HACD3 | ENSG00000074696.13 | transcript | ENST00000261875.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
HACD3_chr15_65525463_65583349 | 65537947 | AAAAAAAA others(22): Show |
A | intron_variant | MODIFIER | HG02622.hp1 HG03041.hp1 NA18955.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0164a0001c0001t0001g0165a0001c0001t0004g0016 | 4 | 328 | 0.0122 | -29 | c.87+ others(44): Show |
HACD3 | ENSG00000074696.13 | transcript | ENST00000261875.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
HACD3_chr15_65525463_65583349 | 65537951 | AAAAAAAA others(22): Show |
A | intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 328 | 0.0031 | -29 | c.87+ others(44): Show |
HACD3 | ENSG00000074696.13 | transcript | ENST00000261875.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
HAND2_chr4_173521091_173535229 | 173522510 | AAGGGAAT others(22): Show |
A | downstream_gene_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0005 | 1 | 460 | 0.0022 | -29 | c.*47 others(40): Show |
HAND2 | ENSG00000164107.9 | transcript | ENST00000359562.4 | protein_coding | 3580 | chr4 | TogoVar | ||||||
HAP1_chr17_41717640_41739643 | 41733012 | GTTTTTAG others(22): Show |
G | intron_variant | MODIFIER | HG02818.hp1 HG02886.hp1 NA20300.hp1 |
a0016 | a0016c0013 | a0016c0013t0006 | a0016c0013t0006g0018a0016c0013t0006g0019a0016c0013t0006g0020 | 3 | 374 | 0.0080 | -29 | c.470 others(44): Show |
HAP1 | ENSG00000173805.16 | transcript | ENST00000347901.9 | protein_coding | 1/10 | chr17 | TogoVar | ||||||
HARBI1_chr11_46597861_46622227 | 46622099 | ATATATAT others(22): Show |
A | upstream_gene_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 258 | 0.0039 | -29 | c.-51 others(40): Show |
HARBI1 | ENSG00000180423.4 | transcript | ENST00000326737.3 | protein_coding | 4873 | chr11 | TogoVar | ||||||
HAS1_chr19_51708112_51728991 | 51718475 | GTATATCC others(22): Show |
G | intron_variant | MODIFIER | HG02602.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0211 | 1 | 464 | 0.0022 | -29 | c.699 others(44): Show |
HAS1 | ENSG00000105509.11 | transcript | ENST00000540069.7 | protein_coding | 2/4 | chr19 | TogoVar | ||||||
HAUS8_chr19_17044729_17080452 | 17055134 | AAAAAAAA others(22): Show |
A | intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0173 | 1 | 400 | 0.0025 | -29 | c.787 others(44): Show |
HAUS8 | ENSG00000131351.15 | transcript | ENST00000253669.10 | protein_coding | 9/10 | chr19 | TogoVar | ||||||
HAUS8_chr19_17044729_17080452 | 17055140 | AAAAATAT others(22): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG03490.hp1 HG03492.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0010a0001c0002t0001g0045 | 3 | 400 | 0.0075 | -29 | c.787 others(44): Show |
HAUS8 | ENSG00000131351.15 | transcript | ENST00000253669.10 | protein_coding | 9/10 | chr19 | TogoVar | ||||||
HCK_chr20_32047242_32106856 | 32054475 | TAAAAAAA others(22): Show |
T | intron_variant | MODIFIER | HG02630.hp1 HG02717.hp1 HG02895.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181a0001c0001t0001g0184a0001c0001t0001g0185others(5): Show | 8 | 290 | 0.0276 | -29 | c.62+ others(44): Show |
HCK | ENSG00000101336.18 | transcript | ENST00000375852.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
HCN2_chr19_584881_622159 | 613573 | GGGGCCGG others(22): Show |
G | intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0186 | 1 | 408 | 0.0025 | -29 | c.182 others(45): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
HDX_chrX_84312878_84507453 | 84315849 | GAGACTGT others(22): Show |
G | downstream_gene_variant | MODIFIER | NA19089.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 269 | 0.0037 | -29 | c.*60 others(40): Show |
HDX | ENSG00000165259.14 | transcript | ENST00000373177.3 | protein_coding | 2028 | chrX | TogoVar | ||||||
HELT_chr4_185013490_185025953 | 185023050 | TCTCTCTC others(22): Show |
T | downstream_gene_variant | MODIFIER | HG00597.hp2 NA18941.hp2 NA18959.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 4 | 454 | 0.0088 | -29 | c.*22 others(40): Show |
HELT | ENSG00000187821.9 | transcript | ENST00000515777.6 | protein_coding | 2098 | chr4 | TogoVar | ||||||
HERC1_chr15_63603618_63838948 | 63737454 | GATATATA others(22): Show |
G | intron_variant | MODIFIER | HG02896.hp1 NA18522.hp2 |
a0017a0018 | a0017c0033a0018c0034 | a0017c0033t0001a0018c0034t0001 | a0017c0033t0001g0101a0018c0034t0001g0102 | 2 | 216 | 0.0093 | -29 | c.252 others(48): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 12/77 | chr15 | TogoVar | ||||||
HERPUD2_chr7_35627659_35700135 | 35631604 | TATATATA others(22): Show |
T | downstream_gene_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 392 | 0.0026 | -29 | c.*20 others(40): Show |
HERPUD2 | ENSG00000122557.11 | transcript | ENST00000311350.8 | protein_coding | 1054 | chr7 | TogoVar | ||||||
HES5_chr1_2523745_2535263 | 2530936 | TGGAGCCC others(22): Show |
T | upstream_gene_variant | MODIFIER | HG00733.hp2 HG00738.hp1 HG00741.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 12 | 427 | 0.0281 | -29 | c.-80 others(38): Show |
HES5 | ENSG00000197921.6 | transcript | ENST00000378453.4 | protein_coding | 674 | chr1 | TogoVar | ||||||
HEXD_chr17_82413347_82447645 | 82433112 | ATATATAT others(22): Show |
A | intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0333 | 1 | 400 | 0.0025 | -29 | c.283 others(44): Show |
HEXD | ENSG00000169660.17 | transcript | ENST00000327949.15 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
HEXD_chr17_82413347_82447645 | 82433114 | ATATATAT others(22): Show |
A | intron_variant | MODIFIER | HG02074.hp2 HG02300.hp2 HG02559.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0003t0001a0002c0004t0001 | a0001c0001t0001g0054a0001c0003t0001g0017a0001c0003t0001g0152others(4): Show | 9 | 400 | 0.0225 | -29 | c.283 others(44): Show |
HEXD | ENSG00000169660.17 | transcript | ENST00000327949.15 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
HEXD_chr17_82413347_82447645 | 82433126 | ATATTTTT others(22): Show |
A | intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0192 | 1 | 400 | 0.0025 | -29 | c.283 others(44): Show |
HEXD | ENSG00000169660.17 | transcript | ENST00000327949.15 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
HEXD_chr17_82413347_82447645 | 82441476 | AGGGGCAG others(22): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02258.hp2 HG02559.hp1 others(9): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0004t0001 | a0002c0002t0001g0177a0002c0004t0001g0013a0002c0004t0001g0036others(8): Show | 12 | 400 | 0.0300 | -29 | c.116 others(46): Show |
HEXD | ENSG00000169660.17 | transcript | ENST00000327949.15 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
HHIP_chr4_144641156_144750271 | 144684232 | ATTTTTTT others(22): Show |
A | intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0113 | 1 | 316 | 0.0032 | -29 | c.832 others(48): Show |
HHIP | ENSG00000164161.10 | transcript | ENST00000296575.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
HHIP_chr4_144641156_144750271 | 144688775 | AGAACGGA others(22): Show |
A | intron_variant | MODIFIER | HG01261.hp2 HG02055.hp1 HG02145.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(3): Show | a0001c0001t0002g0121a0001c0001t0002g0123a0001c0001t0002g0124others(11): Show | 14 | 316 | 0.0443 | -29 | c.832 others(48): Show |
HHIP | ENSG00000164161.10 | transcript | ENST00000296575.8 | protein_coding | 4/12 | chr4 | TogoVar | ||||||
HIP1R_chr12_122830457_122867961 | 122850608 | CCTGGTTC others(22): Show |
C | intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 348 | 0.0029 | -29 | c.439 others(44): Show |
HIP1R | ENSG00000130787.14 | transcript | ENST00000253083.9 | protein_coding | 5/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |