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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HAS1_chr19_51708112_51728991 | 51726858 | G | GGCCCCTA others(33): Show |
upstream_gene_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0063 | 1 | 462 | 0.0022 | 40 | c.-29 others(51): Show |
HAS1 | ENSG00000105509.11 | transcript | ENST00000540069.7 | protein_coding | 2868 | chr19 | TogoVar | |||||||
HAUS1_chr18_46099385_46133333 | 46112308 | T | TTATATAT others(33): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 | 1 | 370 | 0.0027 | 40 | c.206 others(57): Show |
HAUS1 | ENSG00000152240.13 | transcript | ENST00000282058.11 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
HAUS1_chr18_46099385_46133333 | 46112446 | G | GTATATAT others(33): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 211 | 0.0047 | 40 | c.206 others(57): Show |
HAUS1 | ENSG00000152240.13 | transcript | ENST00000282058.11 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
HAUS1_chr18_46099385_46133333 | 46113035 | A | AATATATA others(33): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 | 1 | 320 | 0.0031 | 40 | c.206 others(57): Show |
HAUS1 | ENSG00000152240.13 | transcript | ENST00000282058.11 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
HAUS2_chr15_42543838_42574994 | 42544842 | C | CAATATAT others(33): Show |
upstream_gene_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0070 | 1 | 276 | 0.0036 | 40 | c.-40 others(51): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 3995 | chr15 | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42544850 | A | ATATATAT others(33): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 HG02258.hp2 HG02559.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0009 a0001c0001t0006g0039 a0001c0001t0006g0040 others(2): Show |
5 | 346 | 0.0145 | 40 | c.-40 others(51): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 3987 | chr15 | TogoVar | |||||||
HBM_chr16_160978_171764 | 164943 | C | CGGGGCGG others(33): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 HG03041.hp1 HG03098.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0001 | 3 | 318 | 0.0094 | 40 | c.-10 others(51): Show |
HBM | ENSG00000206177.7 | transcript | ENST00000356815.4 | protein_coding | 1034 | chr16 | TogoVar | |||||||
HBQ1_chr16_175459_186179 | 186051 | G | GGAGGAAC others(33): Show |
downstream_gene_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 191 | 0.0052 | 40 | c.*49 others(51): Show |
HBQ1 | ENSG00000086506.3 | transcript | ENST00000199708.3 | protein_coding | 4873 | chr16 | TogoVar | |||||||
HBQ1_chr16_175459_186179 | 186102 | G | GGAGGAAC others(33): Show |
downstream_gene_variant | MODIFIER | NA19059.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 298 | 0.0034 | 40 | c.*49 others(51): Show |
HBQ1 | ENSG00000086506.3 | transcript | ENST00000199708.3 | protein_coding | 4924 | chr16 | TogoVar | |||||||
HBQ1_chr16_175459_186179 | 186119 | G | GGAGGAAC others(33): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 338 | 0.0030 | 40 | c.*50 others(51): Show |
HBQ1 | ENSG00000086506.3 | transcript | ENST00000199708.3 | protein_coding | 4941 | chr16 | TogoVar | |||||||
HCRTR2_chr6_55169515_55287617 | 55262331 | T | TGTTATAT others(33): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 366 | 0.0027 | 40 | c.647 others(57): Show |
HCRTR2 | ENSG00000137252.10 | transcript | ENST00000370862.4 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
HDAC4_chr2_239043168_239406020 | 239124641 | T | TATGACAT others(33): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01243.hp1 others(1): Show |
a0001 | a0001c0005a0001c0015 | a0001c0005t0001a0001c0015t0047a0001c0015t0074 | a0001c0005t0001g0001 a0001c0005t0001g0002 a0001c0015t0047g0039 others(1): Show |
4 | 201 | 0.0199 | 40 | c.153 others(59): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 12/26 | chr2 | TogoVar | |||||||
HDAC9_chr7_18490749_19007416 | 18733186 | T | TACATATA others(33): Show |
intron_variant | MODIFIER | HG01081.hp1 HG02683.hp1 HG03041.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0011a0001c0002t0012others(2): Show | a0001c0002t0001g0135 a0001c0002t0011g0026 a0001c0002t0012g0049 others(3): Show |
6 | 154 | 0.0390 | 40 | c.190 others(59): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 13/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HDAC9_chr7_18490749_19007416 | 18786486 | C | CTTCCTTC others(33): Show |
intron_variant | MODIFIER | HG01169.hp2 HG01175.hp2 HG02027.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0140 others(14): Show |
17 | 148 | 0.1149 | 40 | c.221 others(59): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 16/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HDHD3_chr9_113368422_113381986 | 113381412 | C | CCTCCCTC others(33): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00621.hp2 others(61): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0001c0001t0013a0002c0002t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(11): Show |
64 | 144 | 0.4444 | 40 | c.-49 others(51): Show |
HDHD3 | ENSG00000119431.10 | transcript | ENST00000374180.4 | protein_coding | 4427 | chr9 | TogoVar | |||||||
HDLBP_chr2_241222291_241320672 | 241316356 | G | GCCCGACA others(33): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG01123.hp1 HG01928.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0012 | a0001c0001t0001g0004 a0001c0001t0001g0029 a0001c0001t0001g0032 others(18): Show |
21 | 351 | 0.0598 | 40 | c.-92 others(49): Show |
HDLBP | ENSG00000115677.18 | transcript | ENST00000310931.10 | protein_coding | 685 | chr2 | TogoVar | |||||||
HDLBP_chr2_241222291_241320672 | 241316356 | G | GCCCGACA others(33): Show |
upstream_gene_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0043 | 1 | 331 | 0.0030 | 40 | c.-89 others(49): Show |
HDLBP | ENSG00000115677.18 | transcript | ENST00000310931.10 | protein_coding | 685 | chr2 | TogoVar | |||||||
HEATR5B_chr2_36975895_37089372 | 36984215 | A | AAAAAAAA others(33): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0211 | 1 | 153 | 0.0065 | 40 | c.591 others(59): Show |
HEATR5B | ENSG00000008869.12 | transcript | ENST00000233099.6 | protein_coding | 35/35 | chr2 | TogoVar | |||||||
HEATR5B_chr2_36975895_37089372 | 37037145 | G | GAGATGGA others(33): Show |
intron_variant | MODIFIER | HG03491.hp1 NA18978.hp2 NA19080.hp1 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0005t0001 | a0001c0002t0001g0245 a0001c0002t0001g0263 a0001c0005t0001g0029 |
3 | 140 | 0.0214 | 40 | c.321 others(57): Show |
HEATR5B | ENSG00000008869.12 | transcript | ENST00000233099.6 | protein_coding | 21/35 | chr2 | TogoVar | |||||||
HEATR5B_chr2_36975895_37089372 | 37037145 | G | GATATATA others(33): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02083.hp2 HG03540.hp2 others(3): Show |
a0001a0002a0006 | a0001c0001a0001c0004a0002c0003others(1): Show | a0001c0001t0001a0001c0004t0001a0002c0003t0002others(2): Show | a0001c0001t0001g0055 a0001c0004t0001g0028 a0002c0003t0002g0169 others(3): Show |
6 | 143 | 0.0420 | 40 | c.321 others(57): Show |
HEATR5B | ENSG00000008869.12 | transcript | ENST00000233099.6 | protein_coding | 21/35 | chr2 | TogoVar | |||||||
HECTD4_chr12_112155195_112387431 | 112323969 | C | CCTTTCTT others(33): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0102 | 1 | 224 | 0.0045 | 40 | c.178 others(57): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 1/75 | chr12 | TogoVar | |||||||
HECTD4_chr12_112155195_112387431 | 112323981 | C | CCTTTCTT others(33): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0062 | 1 | 221 | 0.0045 | 40 | c.178 others(57): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 1/75 | chr12 | TogoVar | |||||||
HECTD4_chr12_112155195_112387431 | 112323985 | C | CCTTTCTT others(33): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0033 | a0001c0033t0002 | a0001c0033t0002g0110 | 1 | 220 | 0.0045 | 40 | c.178 others(57): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 1/75 | chr12 | TogoVar | |||||||
HECW2_chr2_196189072_196598554 | 196278131 | A | AATATATA others(33): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0011 | 1 | 71 | 0.0141 | 40 | c.313 others(57): Show |
HECW2 | ENSG00000138411.13 | transcript | ENST00000644978.2 | protein_coding | 15/28 | chr2 | TogoVar | |||||||
HEG1_chr3_124960710_125060997 | 124987952 | C | CACACACA others(33): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0147 | 1 | 138 | 0.0072 | 40 | c.373 others(59): Show |
HEG1 | ENSG00000173706.15 | transcript | ENST00000311127.9 | protein_coding | 14/16 | chr3 | TogoVar | |||||||
HEG1_chr3_124960710_125060997 | 124987952 | C | CACACACA others(33): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02135.hp1 HG02572.hp2 others(6): Show |
a0002a0004a0006others(1): Show | a0002c0003a0002c0014a0004c0007others(3): Show | a0002c0003t0007a0002c0014t0120a0004c0007t0013others(5): Show | a0002c0003t0007g0071 a0002c0014t0120g0261 a0004c0007t0013g0305 others(5): Show |
9 | 146 | 0.0616 | 40 | c.373 others(59): Show |
HEG1 | ENSG00000173706.15 | transcript | ENST00000311127.9 | protein_coding | 14/16 | chr3 | TogoVar | |||||||
HEG1_chr3_124960710_125060997 | 124987952 | C | CACACACA others(33): Show |
intron_variant | MODIFIER | HG02148.hp2 NA18988.hp1 NA19010.hp2 others(1): Show |
a0001a0002a0014 | a0001c0002a0002c0003a0002c0014others(1): Show | a0001c0002t0005a0002c0003t0046a0002c0014t0075others(1): Show | a0001c0002t0005g0253 a0002c0003t0046g0118 a0002c0014t0075g0079 others(1): Show |
4 | 141 | 0.0284 | 40 | c.373 others(59): Show |
HEG1 | ENSG00000173706.15 | transcript | ENST00000311127.9 | protein_coding | 14/16 | chr3 | TogoVar | |||||||
HEG1_chr3_124960710_125060997 | 124987952 | C | CACACACA others(33): Show |
intron_variant | MODIFIER | HG03239.hp2 HG03492.hp1 |
a0001a0003 | a0001c0002a0003c0034 | a0001c0002t0024a0003c0034t0030 | a0001c0002t0024g0094 a0003c0034t0030g0115 |
2 | 139 | 0.0144 | 40 | c.373 others(59): Show |
HEG1 | ENSG00000173706.15 | transcript | ENST00000311127.9 | protein_coding | 14/16 | chr3 | TogoVar | |||||||
HEG1_chr3_124960710_125060997 | 124987952 | C | CACACACA others(33): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01099.hp2 HG01261.hp1 others(2): Show |
a0001a0009 | a0001c0002a0009c0016 | a0001c0002t0001a0001c0002t0005a0001c0002t0016others(1): Show | a0001c0002t0001g0108 a0001c0002t0005g0300 a0001c0002t0016g0146 others(2): Show |
5 | 142 | 0.0352 | 40 | c.373 others(59): Show |
HEG1 | ENSG00000173706.15 | transcript | ENST00000311127.9 | protein_coding | 14/16 | chr3 | TogoVar | |||||||
HELZ2_chr20_63553086_63579239 | 63559459 | C | CAGTCAGG others(33): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0059 | a0059c0086 | a0059c0086t0077 | a0059c0086t0077g0224 | 1 | 373 | 0.0027 | 40 | c.782 others(56): Show |
HELZ2 | ENSG00000130589.16 | transcript | ENST00000467148.2 | protein_coding | 19/19 | chr20 | TogoVar | |||||||
HELZ_chr17_67065444_67250196 | 67089668 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0066 | 1 | 40 | 0.0250 | 40 | c.524 others(59): Show |
HELZ | ENSG00000198265.12 | transcript | ENST00000358691.10 | protein_coding | 31/32 | chr17 | TogoVar | |||||||
HERC4_chr10_67916905_68080283 | 68059459 | A | AATAATAT others(33): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02818.hp1 HG02895.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 a0001c0002t0002g0004 a0001c0002t0002g0005 others(4): Show |
7 | 319 | 0.0219 | 40 | c.226 others(59): Show |
HERC4 | ENSG00000148634.16 | transcript | ENST00000373700.9 | protein_coding | 3/24 | chr10 | TogoVar | |||||||
HES7_chr17_8115592_8129106 | 8128308 | C | CTAGATAG others(33): Show |
upstream_gene_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0008 | 1 | 111 | 0.0090 | 40 | c.-42 others(51): Show |
HES7 | ENSG00000179111.9 | transcript | ENST00000541682.7 | protein_coding | 4203 | chr17 | TogoVar | |||||||
HEXB_chr5_74680233_74726288 | 74711713 | G | GAGCGATG others(33): Show |
intron_variant | MODIFIER | NA18944.hp1 NA18986.hp1 NA18994.hp1 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0027 a0003c0003t0002g0174 a0003c0003t0002g0192 |
4 | 394 | 0.0102 | 40 | c.772 others(57): Show |
HEXB | ENSG00000049860.14 | transcript | ENST00000261416.12 | protein_coding | 6/13 | chr5 | TogoVar | |||||||
HEY1_chr8_79759010_79772767 | 79769371 | A | ATCTTTTT others(33): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 HG04204.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0008 a0001c0001t0010g0023 |
2 | 239 | 0.0084 | 40 | c.-17 others(51): Show |
HEY1 | ENSG00000164683.19 | transcript | ENST00000354724.8 | protein_coding | 1605 | chr8 | TogoVar | |||||||
HGF_chr7_81694010_81775047 | 81722854 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | HG02896.hp1 HG03453.hp1 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0007 | a0001c0002t0003g0123 a0001c0002t0007g0122 |
2 | 265 | 0.0075 | 40 | c.116 others(59): Show |
HGF | ENSG00000019991.18 | transcript | ENST00000222390.11 | protein_coding | 9/17 | chr7 | TogoVar | |||||||
HGSNAT_chr8_43135464_43207855 | 43181081 | T | TGGAGGGA others(33): Show |
intron_variant | MODIFIER | HG01993.hp2 HG02129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0157 |
2 | 228 | 0.0088 | 40 | c.101 others(59): Show |
HGSNAT | ENSG00000165102.15 | transcript | ENST00000379644.9 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
HGSNAT_chr8_43135464_43207855 | 43181088 | A | AGAGGGAG others(33): Show |
intron_variant | MODIFIER | HG01361.hp2 HG02273.hp2 NA18970.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0012 a0001c0001t0001g0047 a0001c0001t0002g0006 |
3 | 225 | 0.0133 | 40 | c.101 others(59): Show |
HGSNAT | ENSG00000165102.15 | transcript | ENST00000379644.9 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
HGSNAT_chr8_43135464_43207855 | 43181094 | A | AGAGGGAG others(33): Show |
intron_variant | MODIFIER | HG01169.hp1 NA18941.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0112 |
2 | 224 | 0.0089 | 40 | c.101 others(59): Show |
HGSNAT | ENSG00000165102.15 | transcript | ENST00000379644.9 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
HGSNAT_chr8_43135464_43207855 | 43181100 | A | AGAGGGAG others(33): Show |
intron_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 212 | 0.0047 | 40 | c.101 others(59): Show |
HGSNAT | ENSG00000165102.15 | transcript | ENST00000379644.9 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210526367 | G | GTTTTGTT others(33): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02293.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0145 a0001c0001t0003g0232 |
2 | 48 | 0.0417 | 40 | c.104 others(61): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HHIPL1_chr14_99640129_99685569 | 99660125 | C | CCACGCCA others(33): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 |
a0002a0006 | a0002c0001a0006c0014 | a0002c0001t0005a0006c0014t0023 | a0002c0001t0005g0019 a0006c0014t0023g0019 |
2 | 307 | 0.0065 | 40 | c.137 others(57): Show |
HHIPL1 | ENSG00000182218.10 | transcript | ENST00000330710.10 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
HHIPL1_chr14_99640129_99685569 | 99661421 | A | AGAAGGAA others(33): Show |
intron_variant | MODIFIER | NA18994.hp2 NA19007.hp1 NA19083.hp1 others(1): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0002a0001c0002t0003a0002c0001t0001 | a0001c0002t0002g0188 a0001c0002t0003g0187 a0001c0002t0003g0189 others(1): Show |
4 | 105 | 0.0381 | 40 | c.150 others(59): Show |
HHIPL1 | ENSG00000182218.10 | transcript | ENST00000330710.10 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
HIGD1A_chr3_42777908_42809490 | 42787594 | A | AATATATA others(33): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0198 | 1 | 342 | 0.0029 | 40 | c.98- others(55): Show |
HIGD1A | ENSG00000181061.14 | transcript | ENST00000321331.12 | protein_coding | 2/3 | chr3 | TogoVar | |||||||
HIGD1C_chr12_50947544_50975607 | 50948878 | G | GGGAGGGG others(33): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG02723.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0127 a0001c0002t0001g0133 a0001c0002t0001g0134 |
3 | 377 | 0.0080 | 40 | c.-39 others(51): Show |
HIGD1C | ENSG00000214511.4 | transcript | ENST00000695931.1 | protein_coding | 3665 | chr12 | TogoVar | |||||||
HIKESHI_chr11_86297240_86350943 | 86318303 | C | CAAAAAAA others(33): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 68 | 0.0147 | 40 | c.268 others(59): Show |
HIKESHI | ENSG00000149196.17 | transcript | ENST00000278483.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HINFP_chr11_119116580_119141059 | 119129490 | C | CTTTTTTT others(33): Show |
intron_variant | MODIFIER | HG02129.hp1 NA18991.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0186 a0001c0001t0003g0192 |
2 | 284 | 0.0070 | 40 | c.182 others(57): Show |
HINFP | ENSG00000172273.13 | transcript | ENST00000350777.7 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HIP1_chr7_75528298_75743941 | 75664384 | A | ATGTATAC others(33): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 a0001c0001t0001g0203 |
2 | 127 | 0.0157 | 40 | c.121 others(59): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 1/30 | chr7 | TogoVar | |||||||
HIPK3_chr11_33252381_33362023 | 33272781 | C | CACCCTTC others(33): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(331): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0009others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0012 others(323): Show |
334 | 336 | 0.9940 | 40 | c.-2- others(57): Show |
HIPK3 | ENSG00000110422.12 | transcript | ENST00000303296.9 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
HIVEP2_chr6_142746469_142950176 | 142793673 | T | TTCTTTCT others(33): Show |
intron_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0182 | 1 | 154 | 0.0065 | 40 | c.-52 others(61): Show |
HIVEP2 | ENSG00000010818.11 | transcript | ENST00000367603.8 | protein_coding | 2/9 | chr6 | TogoVar |