view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GOLGA3_chr12_132763914_132833869 | 132805296 | GCCCCGAG others(34): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(190): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0003a0001c0011others(24): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(79): Show | a0001c0001t0001g0026a0001c0001t0001g0027a0001c0001t0001g0028others(190): Show | 193 | 308 | 0.6266 | -41 | c.129 others(58): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 6/23 | chr12 | TogoVar | |||||||
GP6_chr19_55008705_55043264 | 55029331 | TATATATA others(34): Show |
T | intron_variant | MODIFIER | NA19058.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0102 | 1 | 441 | 0.0023 | -41 | c.326 others(58): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 3/7 | chr19 | TogoVar | |||||||
GP6_chr19_55008705_55043264 | 55029338 | ATATATAT others(34): Show |
A | intron_variant | MODIFIER | HG02486.hp1 HG02559.hp2 HG02970.hp1 |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0002 | a0001c0001t0001g0150a0001c0001t0001g0384a0004c0005t0002g0301 | 3 | 441 | 0.0068 | -41 | c.326 others(58): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 3/7 | chr19 | TogoVar | |||||||
GP6_chr19_55008705_55043264 | 55029340 | ATATATAT others(34): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00544.hp2 others(21): Show |
a0001a0026 | a0001c0001a0026c0027 | a0001c0001t0001a0026c0027t0001 | a0001c0001t0001g0006a0001c0001t0001g0139a0001c0001t0001g0144others(20): Show | 24 | 441 | 0.0544 | -41 | c.326 others(58): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 3/7 | chr19 | TogoVar | |||||||
GP6_chr19_55008705_55043264 | 55029342 | ATATATAT others(34): Show |
A | intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 | 1 | 441 | 0.0023 | -41 | c.326 others(58): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 3/7 | chr19 | TogoVar | |||||||
GPC1_chr2_240430663_240473076 | 240453305 | CCCGCTCC others(34): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG02165.hp2 HG02523.hp2 others(12): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0005a0001c0019others(4): Show | a0001c0002t0002a0001c0005t0005a0001c0019t0022others(4): Show | a0001c0002t0002g0265a0001c0005t0005g0030a0001c0005t0005g0048others(11): Show | 15 | 398 | 0.0377 | -41 | c.167 others(58): Show |
GPC1 | ENSG00000063660.9 | transcript | ENST00000264039.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GPC5_chr13_91393621_92872237 | 92707086 | CCAGCCTC others(34): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG03239.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0030a0001c0001t0002g0042a0001c0001t0003g0003 | 3 | 42 | 0.0714 | -41 | c.156 others(64): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
GPC6_chr13_93221807_94413020 | 93454571 | GTTTACAA others(34): Show |
G | intron_variant | MODIFIER | HG01167.hp1 HG01433.hp2 HG01496.hp2 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0019a0001c0001t0001g0071a0001c0001t0004g0067others(7): Show | 10 | 76 | 0.1316 | -41 | c.161 others(60): Show |
GPC6 | ENSG00000183098.12 | transcript | ENST00000377047.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
GPC6_chr13_93221807_94413020 | 93676113 | AAAAAAAA others(34): Show |
A | intron_variant | MODIFIER | HG03471.hp2 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0024 | a0001c0001t0007g0034a0001c0001t0024g0014 | 2 | 76 | 0.0263 | -41 | c.319 others(62): Show |
GPC6 | ENSG00000183098.12 | transcript | ENST00000377047.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
GPC6_chr13_93221807_94413020 | 93676115 | AAAAAAAA others(34): Show |
A | intron_variant | MODIFIER | HG01256.hp2 HG01433.hp1 HG03017.hp1 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0017a0001c0001t0021a0002c0002t0002others(1): Show | a0001c0001t0017g0056a0001c0001t0021g0053a0002c0002t0002g0039others(1): Show | 4 | 76 | 0.0526 | -41 | c.319 others(62): Show |
GPC6 | ENSG00000183098.12 | transcript | ENST00000377047.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
GPLD1_chr6_24420832_24494578 | 24448326 | TCCCAGTG others(34): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG00738.hp2 HG01070.hp1 others(43): Show |
a0001a0003a0006others(5): Show | a0001c0004a0001c0035a0001c0036others(8): Show | a0001c0004t0012a0001c0004t0024a0001c0004t0028others(21): Show | a0001c0004t0012g0174a0001c0004t0012g0176a0001c0004t0012g0181others(41): Show | 46 | 358 | 0.1285 | -41 | c.144 others(58): Show |
GPLD1 | ENSG00000112293.15 | transcript | ENST00000230036.2 | protein_coding | 15/24 | chr6 | TogoVar | |||||||
GPR161_chr1_168074542_168141930 | 168110552 | GAAAAGAA others(34): Show |
G | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0012 | a0001c0012t0004 | a0001c0012t0004g0162 | 1 | 340 | 0.0029 | -41 | c.-44 others(58): Show |
GPR161 | ENSG00000143147.15 | transcript | ENST00000682931.1 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
GPRC5D_chr12_12935575_12957170 | 12944759 | TTCTTCCT others(34): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG02735.hp1 NA20300.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0171a0001c0001t0003g0384a0001c0002t0001g0137 | 3 | 406 | 0.0074 | -41 | c.896 others(58): Show |
GPRC5D | ENSG00000111291.9 | transcript | ENST00000228887.6 | protein_coding | 2/3 | chr12 | TogoVar | |||||||
GPS2_chr17_7307661_7320360 | 7319373 | TCTTTTTT others(34): Show |
T | upstream_gene_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 414 | 0.0024 | -41 | c.-41 others(52): Show |
GPS2 | ENSG00000132522.16 | transcript | ENST00000380728.7 | protein_coding | 4014 | chr17 | TogoVar | |||||||
GPSM1_chr9_136322539_136364601 | 136355102 | CGAGGGTG others(34): Show |
C | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0006 | a0001c0006t0023 | a0001c0006t0023g0085 | 1 | 400 | 0.0025 | -41 | c.145 others(58): Show |
GPSM1 | ENSG00000160360.13 | transcript | ENST00000440944.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GPSM2_chr1_108871985_108939545 | 108873408 | ATATATAC others(34): Show |
A | upstream_gene_variant | MODIFIER | HG01099.hp1 | a0002 | a0002c0002 | a0002c0002t0019 | a0002c0002t0019g0035 | 1 | 260 | 0.0039 | -41 | c.-40 others(52): Show |
GPSM2 | ENSG00000121957.15 | transcript | ENST00000264126.9 | protein_coding | 3576 | chr1 | TogoVar | |||||||
GPT_chr8_144499140_144512172 | 144505665 | CCCCGCCG others(34): Show |
C | intron_variant | MODIFIER | NA19062.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0017 | 1 | 386 | 0.0026 | -41 | c.740 others(56): Show |
GPT | ENSG00000167701.14 | transcript | ENST00000394955.3 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
GPX6_chr6_28498296_28520793 | 28518351 | CCATCCTC others(34): Show |
C | upstream_gene_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0123 | 1 | 434 | 0.0023 | -41 | c.-26 others(52): Show |
GPX6 | ENSG00000198704.10 | transcript | ENST00000361902.5 | protein_coding | 2559 | chr6 | TogoVar | |||||||
GREB1_chr2_11529045_11647788 | 11538754 | TCCTTTCT others(34): Show |
T | intron_variant | MODIFIER | HG03130.hp2 | a0006 | a0006c0033 | a0006c0033t0034 | a0006c0033t0034g0302 | 1 | 308 | 0.0033 | -41 | c.-16 others(60): Show |
GREB1 | ENSG00000196208.14 | transcript | ENST00000381486.7 | protein_coding | 1/32 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GREB1_chr2_11529045_11647788 | 11538763 | CCTTCCTT others(34): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(147): Show |
a0001a0002a0003others(27): Show | a0001c0001a0001c0013a0001c0089others(40): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(78): Show | a0001c0001t0001g0042a0001c0001t0001g0044a0001c0001t0002g0032others(147): Show | 150 | 308 | 0.4870 | -41 | c.-16 others(60): Show |
GREB1 | ENSG00000196208.14 | transcript | ENST00000381486.7 | protein_coding | 1/32 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GREB1_chr2_11529045_11647788 | 11638660 | TTCTTTTT others(34): Show |
T | frameshift_variant others(3): Show |
HIGH | HG01175.hp1 | a0040 | a0040c0072 | a0040c0072t0058 | a0040c0072t0058g0111 | 1 | 308 | 0.0033 | -41 | c.554 others(53): Show |
p.Ile others(6): Show |
GREB1 | ENSG00000196208.14 | transcript | ENST00000381486.7 | protein_coding | 32/33 | 5548/5850 | 1850/1949 | chr2 | TogoVar | ||||
GREM2_chr1_240484573_240617155 | 240572033 | TCATGAGG others(34): Show |
T | intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0184 | 1 | 376 | 0.0027 | -41 | c.-2+ others(58): Show |
GREM2 | ENSG00000180875.5 | transcript | ENST00000318160.5 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
GRIP1_chr12_66342431_66684076 | 66531245 | AAAAAAAA others(34): Show |
A | intron_variant | MODIFIER | NA19030.hp1 | a0002 | a0002c0003 | a0002c0003t0015 | a0002c0003t0015g0187 | 1 | 224 | 0.0045 | -41 | c.419 others(58): Show |
GRIP1 | ENSG00000155974.14 | transcript | ENST00000359742.9 | protein_coding | 4/24 | chr12 | TogoVar | |||||||
GRK4_chr4_2958571_3045760 | 2960888 | ATTATTAT others(34): Show |
A | upstream_gene_variant | MODIFIER | NA19011.hp1 | a0005 | a0005c0004 | a0005c0004t0001 | a0005c0004t0001g0112 | 1 | 268 | 0.0037 | -41 | c.-31 others(52): Show |
GRK4 | ENSG00000125388.20 | transcript | ENST00000398052.9 | protein_coding | 2682 | chr4 | TogoVar | |||||||
GRM8_chr7_126433598_127257941 | 127040048 | TGGGGAGG others(34): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(90): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(90): Show | 93 | 108 | 0.8611 | -41 | c.727 others(60): Show |
GRM8 | ENSG00000179603.19 | transcript | ENST00000339582.7 | protein_coding | 3/10 | chr7 | TogoVar | |||||||
GRP_chr18_59215158_59235771 | 59227025 | CTTTCTTT others(34): Show |
C | intron_variant | MODIFIER | HG02965.hp1 HG03225.hp1 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0033 | 2 | 408 | 0.0049 | -41 | c.382 others(58): Show |
GRP | ENSG00000134443.10 | transcript | ENST00000256857.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GSE1_chr16_85608322_85681200 | 85653267 | TCCTCCTC others(34): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02451.hp2 HG02895.hp1 |
a0001a0002 | a0001c0001a0002c0008 | a0001c0001t0051a0002c0008t0001a0002c0008t0036 | a0001c0001t0051g0140a0002c0008t0001g0168a0002c0008t0036g0277 | 3 | 290 | 0.0103 | -41 | c.427 others(56): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
GSTA5_chr6_52826848_52845813 | 52828863 | GTTTACAA others(34): Show |
G | downstream_gene_variant | MODIFIER | HG02717.hp2 HG02809.hp1 HG03130.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0000 | a0002c0002t0000g0015 | 4 | 430 | 0.0093 | -41 | c.*29 others(52): Show |
GSTA5 | ENSG00000182793.12 | transcript | ENST00000370989.7 | protein_coding | 2984 | chr6 | TogoVar | |||||||
GTPBP3_chr19_17332553_17347731 | 17332807 | CTAACTCT others(34): Show |
C | upstream_gene_variant | MODIFIER | NA19062.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0054 | 1 | 408 | 0.0025 | -41 | c.-48 others(52): Show |
GTPBP3 | ENSG00000130299.17 | transcript | ENST00000324894.13 | protein_coding | 4745 | chr19 | TogoVar | |||||||
GTSE1_chr22_46291870_46335810 | 46320372 | ATTCATCA others(34): Show |
A | intron_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 200 | 0.0050 | -41 | c.143 others(60): Show |
GTSE1 | ENSG00000075218.19 | transcript | ENST00000454366.2 | protein_coding | 7/11 | chr22 | TogoVar | |||||||
GUCY2C_chr12_14607632_14701599 | 14696953 | ATATAAAG others(34): Show |
A | upstream_gene_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0183 | 1 | 236 | 0.0042 | -41 | c.-54 others(50): Show |
GUCY2C | ENSG00000070019.5 | transcript | ENST00000261170.5 | protein_coding | 355 | chr12 | TogoVar | |||||||
GUCY2C_chr12_14607632_14701599 | 14696962 | GTATATAT others(34): Show |
G | upstream_gene_variant | MODIFIER | HG03130.hp1 HG03225.hp2 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0001 | a0001c0002t0001g0056a0001c0004t0001g0016 | 2 | 236 | 0.0085 | -41 | c.-55 others(50): Show |
GUCY2C | ENSG00000070019.5 | transcript | ENST00000261170.5 | protein_coding | 364 | chr12 | TogoVar | |||||||
H4C11_chr6_27819092_27829480 | 27826795 | CGGGGCGG others(34): Show |
C | downstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 396 | 0.0025 | -41 | c.*23 others(52): Show |
H4C11 | ENSG00000197238.5 | transcript | ENST00000355057.3 | protein_coding | 2316 | chr6 | TogoVar | |||||||
H4C12_chr6_27826174_27836560 | 27826795 | CGGGGCGG others(34): Show |
C | downstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 419 | 0.0024 | -41 | c.*43 others(52): Show |
H4C12 | ENSG00000273542.2 | transcript | ENST00000611927.2 | protein_coding | 4378 | chr6 | TogoVar | |||||||
H4C15_chr1_149855764_149866159 | 149865949 | AAGAAAGA others(34): Show |
A | upstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 206 | 0.0049 | -41 | c.-48 others(52): Show |
H4C15 | ENSG00000270276.3 | transcript | ENST00000579512.3 | protein_coding | 4791 | chr1 | TogoVar | |||||||
HABP2_chr10_113548053_113594602 | 113548542 | CCACGTGA others(34): Show |
C | upstream_gene_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 446 | 0.0022 | -41 | c.-45 others(52): Show |
HABP2 | ENSG00000148702.15 | transcript | ENST00000351270.4 | protein_coding | 4510 | chr10 | TogoVar | |||||||
HCN2_chr19_584881_622159 | 601572 | TGTCGTCC others(34): Show |
T | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0078 | a0001c0078t0008 | a0001c0078t0008g0031 | 1 | 408 | 0.0025 | -41 | c.633 others(58): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HCN2_chr19_584881_622159 | 604149 | GGTGGGGT others(34): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG02056.hp2 HG02300.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0097others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(3): Show | a0001c0001t0001g0182a0001c0001t0002g0186a0001c0002t0003g0181others(3): Show | 6 | 408 | 0.0147 | -41 | c.105 others(58): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HCN2_chr19_584881_622159 | 620882 | TGGGGGCG others(34): Show |
T | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG01109.hp2 others(60): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(36): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(46): Show | a0001c0001t0001g0137a0001c0001t0001g0188a0001c0001t0002g0016others(60): Show | 63 | 408 | 0.1544 | -41 | c.*44 others(52): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 3724 | chr19 | TogoVar | |||||||
HDAC4_chr2_239043168_239406020 | 239185055 | GCCCTGGA others(34): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00544.hp1 others(55): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0002a0001c0001t0001g0049a0001c0001t0001g0107others(55): Show | 58 | 242 | 0.2397 | -41 | c.339 others(58): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 4/26 | chr2 | TogoVar | |||||||
HECTD2_chr10_91405344_91519820 | 91415977 | TGTAAAGT others(34): Show |
T | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0013 | 1 | 15 | 0.0667 | -41 | c.138 others(58): Show |
HECTD2 | ENSG00000165338.17 | transcript | ENST00000298068.10 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
HELZ2_chr20_63553086_63579239 | 63559746 | GGTCAGGT others(34): Show |
G | intron_variant | MODIFIER | NA18942.hp2 | a0005 | a0005c0007 | a0005c0007t0007 | a0005c0007t0007g0317 | 1 | 390 | 0.0026 | -41 | c.782 others(58): Show |
HELZ2 | ENSG00000130589.16 | transcript | ENST00000467148.2 | protein_coding | 19/19 | chr20 | TogoVar | |||||||
HHIP_chr4_144641156_144750271 | 144742862 | ATATATAT others(34): Show |
A | 3_prime_UTR_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0040 | 1 | 316 | 0.0032 | -41 | c.*49 others(52): Show |
HHIP | ENSG00000164161.10 | transcript | ENST00000296575.8 | protein_coding | 13/13 | 4918 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
HIGD1B_chr17_44842883_44855476 | 44848646 | CGTGGTGA others(34): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(132): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0005 | a0001c0001t0001a0002c0003t0001a0004c0005t0001 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0020others(10): Show | 135 | 416 | 0.3245 | -41 | c.100 others(56): Show |
HIGD1B | ENSG00000131097.7 | transcript | ENST00000253410.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
HLA-DQB1_chr6_32654467_32671657 | 32659179 | GATAGAAA others(34): Show |
G | downstream_gene_variant | MODIFIER | NA19010.hp1 | a0010 | a0010c0009 | a0010c0009t0016 | a0010c0009t0016g0037 | 1 | 402 | 0.0025 | -41 | c.*10 others(52): Show |
HLA-DQB1 | ENSG00000179344.17 | transcript | ENST00000434651.7 | protein_coding | 287 | chr6 | TogoVar | |||||||
HLA-DQB1_chr6_32654467_32671657 | 32662491 | AAGAATGT others(34): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(210): Show |
a0001a0002a0004others(7): Show | a0001c0001a0002c0002a0002c0017others(8): Show | a0001c0001t0006a0001c0001t0012a0001c0001t0014others(14): Show | a0001c0001t0006g0003a0001c0001t0006g0017a0001c0001t0012g0014others(32): Show | 213 | 402 | 0.5299 | -41 | c.380 others(56): Show |
HLA-DQB1 | ENSG00000179344.17 | transcript | ENST00000434651.7 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
HMCN1_chr1_185729391_186195949 | 186005399 | TAATTGTT others(34): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG03139.hp2 |
a0015a0018 | a0015c0012a0018c0046 | a0015c0012t0008a0018c0046t0001 | a0015c0012t0008g0001a0018c0046t0001g0059 | 2 | 92 | 0.0217 | -41 | c.447 others(60): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 29/106 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HMGCLL1_chr6_55429373_55584192 | 55543420 | GATATATA others(34): Show |
G | intron_variant | MODIFIER | HG01515.hp2 HG01517.hp2 HG02717.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0094a0001c0001t0001g0097a0001c0001t0001g0226others(8): Show | 11 | 334 | 0.0329 | -41 | c.109 others(58): Show |
HMGCLL1 | ENSG00000146151.14 | transcript | ENST00000274901.9 | protein_coding | 1/8 | chr6 | TogoVar | |||||||
HPGDS_chr4_94293535_94347836 | 94340289 | CTTTCTTT others(34): Show |
C | intron_variant | MODIFIER | HG02717.hp1 HG02717.hp2 HG02818.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0027a0001c0001t0001g0048others(6): Show | 10 | 312 | 0.0321 | -41 | c.-10 others(58): Show |
HPGDS | ENSG00000163106.11 | transcript | ENST00000295256.10 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
HPGDS_chr4_94293535_94347836 | 94340301 | CTTTCTTT others(34): Show |
C | intron_variant | MODIFIER | HG02615.hp2 HG03209.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0009g0031 | 3 | 312 | 0.0096 | -41 | c.-10 others(58): Show |
HPGDS | ENSG00000163106.11 | transcript | ENST00000295256.10 | protein_coding | 1/5 | chr4 | TogoVar |