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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GP6_chr19_55008705_55043264 | 55029331 | TATATATA others(36): Show |
T | intron_variant | MODIFIER | NA18955.hp1 NA18979.hp1 NA19004.hp2 others(3): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0004 a0002c0004t0001g0107 a0002c0004t0001g0120 others(1): Show |
6 | 439 | 0.0137 | -43 | c.326 others(60): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 3/7 | chr19 | TogoVar | |||||||
GP6_chr19_55008705_55043264 | 55029332 | ATATATAT others(36): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00639.hp1 others(10): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0094 a0002c0004t0001g0096 a0002c0004t0001g0098 others(10): Show |
13 | 435 | 0.0299 | -43 | c.326 others(60): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 3/7 | chr19 | TogoVar | |||||||
GP6_chr19_55008705_55043264 | 55029334 | ATATATAT others(36): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG01175.hp2 others(2): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0095 a0002c0004t0001g0099 a0002c0004t0001g0102 others(2): Show |
5 | 437 | 0.0114 | -43 | c.326 others(60): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 3/7 | chr19 | TogoVar | |||||||
GP6_chr19_55008705_55043264 | 55029336 | ATATATAT others(36): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp2 HG01123.hp1 others(13): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0001a0002c0002t0001a0002c0004t0001 | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 others(12): Show |
16 | 423 | 0.0378 | -43 | c.326 others(60): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 3/7 | chr19 | TogoVar | |||||||
GP6_chr19_55008705_55043264 | 55029338 | ATATATAT others(36): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00597.hp2 others(62): Show |
a0001a0011a0023 | a0001c0001a0001c0028a0011c0014others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0028t0001others(2): Show | a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0014 others(58): Show |
65 | 418 | 0.1555 | -43 | c.326 others(60): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 3/7 | chr19 | TogoVar | |||||||
GP6_chr19_55008705_55043264 | 55029340 | ATATATAT others(36): Show |
A | intron_variant | MODIFIER | HG00673.hp2 HG02132.hp1 HG02257.hp1 others(8): Show |
a0001a0012a0020 | a0001c0001a0001c0020a0012c0015others(1): Show | a0001c0001t0001a0001c0020t0001a0012c0015t0001others(1): Show | a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0189 others(8): Show |
11 | 408 | 0.0270 | -43 | c.326 others(60): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 3/7 | chr19 | TogoVar | |||||||
GPAT3_chr4_83531108_83610875 | 83562195 | ATATAATA others(36): Show |
A | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0331 | 1 | 331 | 0.0030 | -43 | c.208 others(62): Show |
GPAT3 | ENSG00000138678.11 | transcript | ENST00000264409.5 | protein_coding | 2/11 | chr4 | TogoVar | |||||||
GPC3_chrX_133530745_133990594 | 133661591 | TCTCTCTC others(36): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG02922.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0126 a0001c0002t0002g0149 |
2 | 150 | 0.0133 | -43 | c.141 others(59): Show |
GPC3 | ENSG00000147257.16 | transcript | ENST00000370818.8 | protein_coding | 6/7 | chrX | TogoVar | |||||||
GPIHBP1_chr8_143208218_143222170 | 143214526 | GTGCCCCA others(36): Show |
G | intron_variant | MODIFIER | HG02109.hp2 HG02630.hp2 HG02717.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0019 | a0001c0001t0006g0005 a0001c0001t0006g0014 a0001c0001t0019g0005 |
12 | 104 | 0.1154 | -43 | c.182 others(58): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
GPR153_chr1_6242353_6266098 | 6259908 | GTCTCCTG others(36): Show |
G | intron_variant | MODIFIER | HG01884.hp2 NA20300.hp2 |
a0002 | a0002c0004 | a0002c0004t0011 | a0002c0004t0011g0058 a0002c0004t0011g0062 |
2 | 372 | 0.0054 | -43 | c.-11 others(60): Show |
GPR153 | ENSG00000158292.7 | transcript | ENST00000377893.3 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
GPR45_chr2_105236743_105248467 | 105237326 | CGGATCGT others(36): Show |
C | upstream_gene_variant | MODIFIER | HG02615.hp1 HG02896.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 410 | 0.0049 | -43 | c.-45 others(54): Show |
GPR45 | ENSG00000135973.3 | transcript | ENST00000258456.3 | protein_coding | 4416 | chr2 | TogoVar | |||||||
GPSM1_chr9_136322539_136364601 | 136355149 | TGGGTGAC others(36): Show |
T | intron_variant | MODIFIER | HG02004.hp1 HG02004.hp2 HG02135.hp1 others(13): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0003a0002c0004t0003 | a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0159 others(11): Show |
16 | 398 | 0.0402 | -43 | c.145 others(60): Show |
GPSM1 | ENSG00000160360.13 | transcript | ENST00000440944.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GPSM2_chr1_108871985_108939545 | 108873406 | ATATATAT others(36): Show |
A | upstream_gene_variant | MODIFIER | HG02818.hp1 HG02965.hp1 |
a0002 | a0002c0002a0002c0006 | a0002c0002t0019a0002c0006t0010 | a0002c0002t0019g0044 a0002c0006t0010g0031 |
2 | 258 | 0.0078 | -43 | c.-40 others(54): Show |
GPSM2 | ENSG00000121957.15 | transcript | ENST00000264126.9 | protein_coding | 3578 | chr1 | TogoVar | |||||||
GRB10_chr7_50585068_50787896 | 50773069 | CAGAAGGT others(36): Show |
C | intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 276 | 0.0036 | -43 | c.-21 others(62): Show |
GRB10 | ENSG00000106070.20 | transcript | ENST00000401949.6 | protein_coding | 2/18 | chr7 | TogoVar | |||||||
GRIA2_chr4_157215728_157371075 | 157355726 | TTATTTAT others(36): Show |
T | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0098 | 1 | 216 | 0.0046 | -43 | c.204 others(62): Show |
GRIA2 | ENSG00000120251.22 | transcript | ENST00000264426.14 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GRID2_chr4_92298966_93779566 | 92740672 | CATAGATA others(36): Show |
C | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 28 | 0.0357 | -43 | c.244 others(64): Show |
GRID2 | ENSG00000152208.13 | transcript | ENST00000282020.9 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GRID2_chr4_92298966_93779566 | 93257960 | TACACACA others(36): Show |
T | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0028 | 1 | 34 | 0.0294 | -43 | c.124 others(64): Show |
GRID2 | ENSG00000152208.13 | transcript | ENST00000282020.9 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GRIK4_chr11_120506748_120993906 | 120794095 | GTGTTAGG others(36): Show |
G | intron_variant | MODIFIER | HG02486.hp2 HG02896.hp1 HG03041.hp2 others(7): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0003a0001c0001t0008a0001c0001t0013others(7): Show | a0001c0001t0003g0017 a0001c0001t0008g0082 a0001c0001t0013g0027 others(7): Show |
10 | 97 | 0.1031 | -43 | c.83- others(58): Show |
GRIK4 | ENSG00000149403.13 | transcript | ENST00000527524.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GRIK4_chr11_120506748_120993906 | 120794190 | CTGAGAGC others(36): Show |
C | intron_variant | MODIFIER | HG02896.hp2 HG03195.hp1 NA19043.hp1 |
a0001a0008 | a0001c0002a0001c0009a0008c0019 | a0001c0002t0002a0001c0009t0012a0008c0019t0022 | a0001c0002t0002g0008 a0001c0009t0012g0002 a0008c0019t0022g0014 |
3 | 126 | 0.0238 | -43 | c.83- others(58): Show |
GRIK4 | ENSG00000149403.13 | transcript | ENST00000527524.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GRM4_chr6_34013643_34151087 | 34071878 | CTACACAG others(36): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00597.hp1 others(75): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(18): Show | a0001c0001t0001g0006 a0001c0001t0001g0136 a0001c0001t0001g0138 others(74): Show |
78 | 279 | 0.2796 | -43 | c.737 others(60): Show |
GRM4 | ENSG00000124493.14 | transcript | ENST00000538487.7 | protein_coding | 3/10 | chr6 | TogoVar | |||||||
GRM7_chr3_6856115_7746533 | 7128636 | AGCTGGGA others(36): Show |
A | intron_variant | MODIFIER | HG02922.hp2 HG03195.hp2 NA19030.hp1 |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0004 | a0001c0003t0002g0056 a0001c0003t0004g0061 a0001c0003t0004g0062 |
3 | 76 | 0.0395 | -43 | c.520 others(62): Show |
GRM7 | ENSG00000196277.17 | transcript | ENST00000357716.9 | protein_coding | 1/9 | chr3 | TogoVar | |||||||
GSG1L_chr16_27782528_28068714 | 27827907 | CACCTACC others(36): Show |
C | intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 238 | 0.0042 | -43 | c.830 others(58): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
GSTM4_chr1_109651099_109666700 | 109654173 | AGAAAGAA others(36): Show |
A | upstream_gene_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 362 | 0.0028 | -43 | c.-22 others(54): Show |
GSTM4 | ENSG00000168765.19 | transcript | ENST00000369836.9 | protein_coding | 1925 | chr1 | TogoVar | |||||||
GUCY1A2_chr11_106669019_107023476 | 107021990 | CAAGAGGG others(36): Show |
C | upstream_gene_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0066 | a0001c0001t0066g0002 | 1 | 254 | 0.0039 | -43 | c.-39 others(54): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 3515 | chr11 | TogoVar | |||||||
GUCY2C_chr12_14607632_14701599 | 14684582 | TTCCTTCC others(36): Show |
T | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0175 | 1 | 224 | 0.0045 | -43 | c.396 others(60): Show |
GUCY2C | ENSG00000070019.5 | transcript | ENST00000261170.5 | protein_coding | 3/26 | chr12 | TogoVar | |||||||
GUCY2C_chr12_14607632_14701599 | 14696962 | GTATATAT others(36): Show |
G | upstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0175 | 1 | 142 | 0.0070 | -43 | c.-55 others(52): Show |
GUCY2C | ENSG00000070019.5 | transcript | ENST00000261170.5 | protein_coding | 364 | chr12 | TogoVar | |||||||
GUCY2C_chr12_14607632_14701599 | 14696995 | GTATATAT others(36): Show |
G | upstream_gene_variant | MODIFIER | HG02486.hp1 HG02615.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0090 a0001c0002t0001g0150 |
2 | 159 | 0.0126 | -43 | c.-59 others(52): Show |
GUCY2C | ENSG00000070019.5 | transcript | ENST00000261170.5 | protein_coding | 397 | chr12 | TogoVar | |||||||
GZMM_chr19_539053_554922 | 549702 | GTCTGCAC others(36): Show |
G | frameshift_variant | HIGH | NA19083.hp2 | a0012 | a0012c0012 | a0012c0012t0001 | a0012c0012t0001g0214 | 1 | 396 | 0.0025 | -43 | c.686 others(50): Show |
p.Val others(5): Show |
GZMM | ENSG00000197540.8 | transcript | ENST00000264553.6 | protein_coding | 5/5 | 705/924 | 686/774 | 229/257 | chr19 | TogoVar | |||
HAUS7_chrX_153442668_153475576 | 153466959 | ACATTTTG others(36): Show |
A | intron_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 319 | 0.0031 | -43 | c.225 others(60): Show |
HAUS7 | ENSG00000213397.12 | transcript | ENST00000370211.10 | protein_coding | 2/9 | chrX | TogoVar | |||||||
HBM_chr16_160978_171764 | 164928 | GGTCGCGG others(36): Show |
G | upstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 359 | 0.0028 | -43 | c.-10 others(54): Show |
HBM | ENSG00000206177.7 | transcript | ENST00000356815.4 | protein_coding | 1049 | chr16 | TogoVar | |||||||
HCN2_chr19_584881_622159 | 604607 | ATATGAGG others(36): Show |
A | intron_variant | MODIFIER | HG02970.hp2 HG03471.hp2 NA20129.hp2 |
a0001a0002 | a0001c0003a0001c0042a0002c0063 | a0001c0003t0001a0001c0042t0008a0002c0063t0001 | a0001c0003t0001g0020 a0001c0042t0008g0112 a0002c0063t0001g0274 |
3 | 351 | 0.0085 | -43 | c.105 others(60): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HDAC4_chr2_239043168_239406020 | 239059828 | CACCAGCC others(36): Show |
C | intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0132 | 1 | 240 | 0.0042 | -43 | c.300 others(62): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 24/26 | chr2 | TogoVar | |||||||
HDAC4_chr2_239043168_239406020 | 239142591 | CAGCTCAG others(36): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG01243.hp2 HG02109.hp1 others(9): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0052a0001c0003t0003a0001c0003t0004others(7): Show | a0001c0001t0052g0075 a0001c0003t0003g0070 a0001c0003t0004g0044 others(9): Show |
12 | 240 | 0.0500 | -43 | c.865 others(60): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 8/26 | chr2 | TogoVar | |||||||
HDAC4_chr2_239043168_239406020 | 239184632 | GGGGTCCC others(36): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00544.hp1 others(53): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0004 a0001c0001t0001g0051 a0001c0001t0001g0107 others(53): Show |
56 | 240 | 0.2333 | -43 | c.339 others(60): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 4/26 | chr2 | TogoVar | |||||||
HDAC4_chr2_239043168_239406020 | 239184796 | GGGGGGGT others(36): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(84): Show |
a0001a0004a0008others(1): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0064 others(84): Show |
87 | 240 | 0.3625 | -43 | c.339 others(60): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 4/26 | chr2 | TogoVar | |||||||
HERPUD2_chr7_35627659_35700135 | 35631697 | AATATATA others(36): Show |
A | downstream_gene_variant | MODIFIER | HG02109.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0316 | 1 | 390 | 0.0026 | -43 | c.*19 others(54): Show |
HERPUD2 | ENSG00000122557.11 | transcript | ENST00000311350.8 | protein_coding | 961 | chr7 | TogoVar | |||||||
HHIPL1_chr14_99640129_99685569 | 99656849 | AAGGAAGG others(36): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp2 HG01074.hp2 others(14): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0004 | a0001c0002t0002a0001c0002t0003a0001c0002t0022others(4): Show | a0001c0002t0002g0116 a0001c0002t0003g0194 a0001c0002t0022g0214 others(13): Show |
17 | 358 | 0.0475 | -43 | c.903 others(58): Show |
HHIPL1 | ENSG00000182218.10 | transcript | ENST00000330710.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
HHIP_chr4_144641156_144750271 | 144742955 | TACATATA others(36): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02559.hp2 HG02735.hp1 |
a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0090 a0001c0001t0021g0226 |
2 | 314 | 0.0064 | -43 | c.*50 others(54): Show |
HHIP | ENSG00000164161.10 | transcript | ENST00000296575.8 | protein_coding | 13/13 | 5000 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
HIBADH_chr7_27520442_27667883 | 27613117 | AATATATT others(36): Show |
A | intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0261 | 1 | 324 | 0.0031 | -43 | c.484 others(62): Show |
HIBADH | ENSG00000106049.9 | transcript | ENST00000265395.7 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
HIBCH_chr2_190198920_190324826 | 190314278 | AATATATA others(36): Show |
A | intron_variant | MODIFIER | HG02523.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0263 | 1 | 359 | 0.0028 | -43 | c.36- others(58): Show |
HIBCH | ENSG00000198130.16 | transcript | ENST00000359678.10 | protein_coding | 1/13 | chr2 | TogoVar | |||||||
HK2_chr2_74829127_74898359 | 74896664 | TATGGGAT others(36): Show |
T | downstream_gene_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0073 | 1 | 392 | 0.0026 | -43 | c.*57 others(54): Show |
HK2 | ENSG00000159399.10 | transcript | ENST00000290573.7 | protein_coding | 3306 | chr2 | TogoVar | |||||||
HMCN1_chr1_185729391_186195949 | 186086791 | TAGATGAT others(36): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG01261.hp2 HG01978.hp2 others(11): Show |
a0001a0003a0006others(5): Show | a0001c0001a0003c0004a0006c0006others(5): Show | a0001c0001t0001a0003c0004t0001a0003c0004t0002others(7): Show | a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0083 others(11): Show |
14 | 34 | 0.4118 | -43 | c.904 others(60): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 58/106 | chr1 | TogoVar | |||||||
HMGCLL1_chr6_55429373_55584192 | 55477381 | TTATCTAA others(36): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG03195.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006 | a0001c0001t0001g0236 a0001c0001t0003g0216 a0001c0001t0006g0232 |
3 | 332 | 0.0090 | -43 | c.795 others(62): Show |
HMGCLL1 | ENSG00000146151.14 | transcript | ENST00000274901.9 | protein_coding | 7/8 | chr6 | TogoVar | |||||||
HPGDS_chr4_94293535_94347836 | 94340289 | CTTTCTTT others(36): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 |
a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0048 a0002c0002t0005g0049 |
2 | 299 | 0.0067 | -43 | c.-10 others(60): Show |
HPGDS | ENSG00000163106.11 | transcript | ENST00000295256.10 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
HRH3_chr20_62209960_62225278 | 62213477 | GGGGGGTA others(36): Show |
G | downstream_gene_variant | MODIFIER | HG02165.hp1 NA18983.hp2 NA19012.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0006 a0001c0002t0001g0011 |
5 | 358 | 0.0140 | -43 | c.*24 others(54): Show |
HRH3 | ENSG00000101180.17 | transcript | ENST00000340177.10 | protein_coding | 1482 | chr20 | TogoVar | |||||||
HSD17B8_chr6_33199655_33211831 | 33209305 | GGTAGCAC others(36): Show |
G | downstream_gene_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 402 | 0.0025 | -43 | c.*26 others(54): Show |
HSD17B8 | ENSG00000204228.4 | transcript | ENST00000374662.4 | protein_coding | 2475 | chr6 | TogoVar | |||||||
HSPA12A_chr10_116666192_116747566 | 116698021 | ATGAATAA others(36): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp1 others(78): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0013others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0016 others(78): Show |
81 | 318 | 0.2547 | -43 | c.546 others(58): Show |
HSPA12A | ENSG00000165868.16 | transcript | ENST00000369209.8 | protein_coding | 5/11 | chr10 | TogoVar | |||||||
HTR2C_chrX_114579086_114915061 | 114806721 | TACACCAT others(36): Show |
T | intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0096 | 1 | 174 | 0.0057 | -43 | c.350 others(62): Show |
HTR2C | ENSG00000147246.10 | transcript | ENST00000276198.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
HTT_chr4_3069681_3248957 | 3094644 | GACGGGGC others(36): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00642.hp1 others(20): Show |
a0003a0004a0005others(7): Show | a0003c0086a0004c0068a0005c0008others(11): Show | a0003c0086t0026a0004c0068t0001a0005c0008t0003others(11): Show | a0003c0086t0026g0060 a0004c0068t0001g0068 a0005c0008t0003g0024 others(20): Show |
23 | 292 | 0.0788 | -43 | c.348 others(60): Show |
HTT | ENSG00000197386.14 | transcript | ENST00000355072.11 | protein_coding | 2/66 | chr4 | TogoVar | |||||||
IDO1_chr8_39908891_39933790 | 39910680 | GTATTTTA others(36): Show |
G | upstream_gene_variant | MODIFIER | HG02055.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0039 a0001c0001t0002g0039 |
2 | 414 | 0.0048 | -43 | c.-32 others(54): Show |
IDO1 | ENSG00000131203.13 | transcript | ENST00000518237.6 | protein_coding | 3210 | chr8 | TogoVar |