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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
H1-8_chr3_129538175_129556467 | 129538525 | C | CCCTCCCT others(33): Show |
upstream_gene_variant | MODIFIER | HG03471.hp2 | a0004 | a0004c0013 | a0004c0013t0001 | a0004c0013t0001g0102 | 1 | 422 | 0.0024 | 40 | c.-46 others(51): Show |
H1-8 | ENSG00000178804.8 | transcript | ENST00000324382.7 | protein_coding | 4649 | chr3 | TogoVar | ||||||
H1-8_chr3_129538175_129556467 | 129538525 | C | CCCTCCCT others(33): Show |
upstream_gene_variant | MODIFIER | NA18970.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0003 | 1 | 422 | 0.0024 | 40 | c.-46 others(51): Show |
H1-8 | ENSG00000178804.8 | transcript | ENST00000324382.7 | protein_coding | 4649 | chr3 | TogoVar | ||||||
H1-8_chr3_129538175_129556467 | 129538525 | C | CCCTCCCT others(33): Show |
upstream_gene_variant | MODIFIER | HG00738.hp1 HG01167.hp2 HG01243.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0073a0001c0005t0001g0009a0001c0005t0001g0072 | 3 | 422 | 0.0071 | 40 | c.-46 others(51): Show |
H1-8 | ENSG00000178804.8 | transcript | ENST00000324382.7 | protein_coding | 4649 | chr3 | TogoVar | ||||||
H2AB2_chrX_155375709_155386299 | 155377036 | G | GAATTGGT others(33): Show |
upstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 229 | 0.0044 | 40 | c.-37 others(51): Show |
H2AB2 | ENSG00000277858.2 | transcript | ENST00000354514.6 | protein_coding | 3672 | chrX | TogoVar | ||||||
H3Y2_chr5_17485967_17497076 | 17493385 | C | CATATATA others(33): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00544.hp2 HG00609.hp1 others(17): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0007t0001others(1): Show | a0001c0001t0001g0000a0001c0002t0001g0000a0001c0007t0001g0000others(1): Show | 20 | 400 | 0.0500 | 40 | c.-16 others(51): Show |
H3Y2 | ENSG00000268799.4 | transcript | ENST00000600799.3 | protein_coding | 1310 | chr5 | TogoVar | ||||||
H3Y2_chr5_17485967_17497076 | 17493399 | T | TATATATA others(33): Show |
upstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 400 | 0.0025 | 40 | c.-16 others(51): Show |
H3Y2 | ENSG00000268799.4 | transcript | ENST00000600799.3 | protein_coding | 1324 | chr5 | TogoVar | ||||||
HACE1_chr6_104723094_104864919 | 104831918 | A | AAGAAGAG others(33): Show |
intron_variant | MODIFIER | HG04115.hp1 NA18965.hp1 NA18967.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0305a0001c0001t0001g0306a0001c0001t0001g0307others(2): Show | 5 | 346 | 0.0145 | 40 | c.534 others(57): Show |
HACE1 | ENSG00000085382.12 | transcript | ENST00000262903.9 | protein_coding | 6/23 | chr6 | TogoVar | ||||||
HACL1_chr3_15555699_15606569 | 15592506 | A | ACGCACGT others(33): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0005 | a0005c0010 | a0005c0010t0001 | a0005c0010t0001g0083 | 1 | 428 | 0.0023 | 40 | c.228 others(55): Show |
HACL1 | ENSG00000131373.15 | transcript | ENST00000321169.10 | protein_coding | 3/16 | chr3 | TogoVar | ||||||
HAO1_chr20_7877985_7945458 | 7909381 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 348 | 0.0029 | 40 | c.546 others(57): Show |
HAO1 | ENSG00000101323.5 | transcript | ENST00000378789.4 | protein_coding | 3/7 | chr20 | TogoVar | ||||||
HAS1_chr19_51708112_51728991 | 51726858 | G | GGCCCCTA others(33): Show |
upstream_gene_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0062 | 1 | 464 | 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 | a0001c0001t0001g0289 | 1 | 372 | 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 | a0001c0001t0001g0185 | 1 | 372 | 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 | 46113035 | A | AATATATA others(33): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0256 | 1 | 372 | 0.0027 | 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 | 350 | 0.0029 | 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 | a0001c0001t0006g0009a0001c0001t0006g0039a0001c0001t0006g0040others(2): Show | 5 | 350 | 0.0143 | 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 | 370 | 0.0081 | 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 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 384 | 0.0026 | 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 | 384 | 0.0026 | 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 | 384 | 0.0026 | 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 | a0001c0001t0001g0129 | 1 | 368 | 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 | a0001c0005t0001g0079a0001c0005t0001g0080a0001c0015t0047g0037others(1): Show | 4 | 242 | 0.0165 | 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 | a0001c0002t0001g0135a0001c0002t0011g0026a0001c0002t0012g0049others(3): Show | 6 | 156 | 0.0385 | 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 | a0001c0001t0001g0073a0001c0001t0001g0074a0001c0001t0001g0140others(14): Show | 17 | 156 | 0.1090 | 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 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(14): Show | 64 | 464 | 0.1379 | 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 | a0001c0001t0001g0003a0001c0001t0001g0028a0001c0001t0001g0032others(18): Show | 21 | 354 | 0.0593 | 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 | a0001c0001t0019g0042 | 1 | 354 | 0.0028 | 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 | 314 | 0.0032 | 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 | a0001c0002t0001g0245a0001c0002t0001g0263a0001c0005t0001g0029 | 3 | 314 | 0.0096 | 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 | a0001c0001t0001g0055a0001c0004t0001g0028a0002c0003t0002g0168others(3): Show | 6 | 314 | 0.0191 | 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 | 270 | 0.0037 | 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 | 270 | 0.0037 | 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 | 270 | 0.0037 | 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 | a0001c0002t0006g0010 | 1 | 112 | 0.0089 | 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 | a0001c0002t0001g0146 | 1 | 362 | 0.0028 | 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 |
a0002a0005a0007others(1): Show | a0002c0003a0002c0014a0005c0007others(3): Show | a0002c0003t0007a0002c0014t0120a0005c0007t0013others(5): Show | a0002c0003t0007g0070a0002c0014t0120g0263a0005c0007t0013g0307others(5): Show | 9 | 362 | 0.0249 | 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 |
a0001a0002a0031 | a0001c0002a0002c0003a0002c0014others(1): Show | a0001c0002t0005a0002c0003t0046a0002c0014t0075others(1): Show | a0001c0002t0005g0255a0002c0003t0046g0117a0002c0014t0075g0078others(1): Show | 4 | 362 | 0.0111 | 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 | a0001c0002t0024g0093a0003c0034t0030g0114 | 2 | 362 | 0.0055 | 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 |
a0001a0010 | a0001c0002a0010c0016 | a0001c0002t0001a0001c0002t0005a0001c0002t0016others(1): Show | a0001c0002t0001g0107a0001c0002t0005g0302a0001c0002t0016g0145others(2): Show | 5 | 362 | 0.0138 | 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 | a0076 | a0076c0086 | a0076c0086t0077 | a0076c0086t0077g0079 | 1 | 390 | 0.0026 | 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 | a0002c0002t0003g0067 | 1 | 274 | 0.0037 | 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 | a0001c0002t0002g0001a0001c0002t0002g0003a0001c0002t0002g0004others(4): Show | 7 | 360 | 0.0194 | 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 | 446 | 0.0022 | 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 | a0003c0003t0002g0025a0003c0003t0002g0181a0003c0003t0002g0206 | 4 | 396 | 0.0101 | 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 | a0001c0001t0001g0008a0001c0001t0010g0023 | 2 | 460 | 0.0044 | 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 | a0001c0002t0003g0102a0001c0002t0007g0101 | 2 | 272 | 0.0074 | 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 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097a0001c0001t0001g0117a0001c0001t0001g0175 | 3 | 234 | 0.0128 | 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 | a0001c0001t0001g0038a0001c0001t0001g0095a0001c0001t0002g0026 | 3 | 234 | 0.0128 | 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 | a0001c0001t0001g0115a0001c0001t0001g0129 | 2 | 234 | 0.0086 | 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 | a0001c0001t0001g0173 | 1 | 234 | 0.0043 | 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 | a0001c0001t0001g0145a0001c0001t0003g0232 | 2 | 268 | 0.0075 | 40 | c.104 others(61): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |