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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
JAKMIP3_chr10_132060946_132189858 | 132173041 | C | CCCCCTCT others(2005): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0112 | 1 | 95 | 0.0105 | 2012 | c.*11 others(2033): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | chr10 | TogoVar | |||||||
KLHL24_chr3_183630623_183689519 | 183661084 | A | AAAGCCCT others(2005): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0084 | 1 | 165 | 0.0061 | 2012 | c.921 others(2029): Show |
KLHL24 | ENSG00000114796.16 | transcript | ENST00000242810.11 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KLHL24_chr3_183630623_183689519 | 183661084 | A | AAAGCCCT others(2005): Show |
intron_variant | MODIFIER | NA19089.hp1 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0069 | 1 | 165 | 0.0061 | 2012 | c.921 others(2029): Show |
KLHL24 | ENSG00000114796.16 | transcript | ENST00000242810.11 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KLHL24_chr3_183630623_183689519 | 183661084 | A | AAGCCCTA others(2005): Show |
intron_variant | MODIFIER | HG02647.hp1 NA19081.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003 | a0001c0002t0002g0116 a0001c0002t0003g0255 |
2 | 166 | 0.0120 | 2012 | c.921 others(2029): Show |
KLHL24 | ENSG00000114796.16 | transcript | ENST00000242810.11 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124507236 | G | GGTAGACA others(2005): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0130 | 1 | 207 | 0.0048 | 2012 | c.624 others(2029): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PAM16_chr16_4335251_4356321 | 4344388 | G | GTGAGAGG others(2005): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 349 | 0.0029 | 2012 | c.4-1 others(2025): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
PCCA_chr13_100084093_100535435 | 100451904 | C | CCTCTCTC others(2005): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0171 | 1 | 5 | 0.2000 | 2012 | c.189 others(2031): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SNRNP35_chr12_123453139_123471936 | 123453160 | A | ATATATAT others(2005): Show |
upstream_gene_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 28 | 0.0357 | 2012 | c.-50 others(2023): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4978 | chr12 | TogoVar | |||||||
TFDP2_chr3_141939428_142154544 | 142144103 | A | ATGGCTCA others(2005): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00558.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0021a0001c0001t0040others(7): Show | a0001c0001t0014g0014 a0001c0001t0014g0019 a0001c0001t0014g0021 others(10): Show |
13 | 250 | 0.0520 | 2012 | c.-93 others(2029): Show |
TFDP2 | ENSG00000114126.18 | transcript | ENST00000489671.6 | protein_coding | 1/12 | chr3 | TogoVar | |||||||
ADGRE2_chr19_14727392_14783560 | 14763752 | T | TCTCCTCT others(2006): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0078 | 1 | 194 | 0.0052 | 2013 | c.108 others(2030): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113418980 | T | TTCCCTCC others(2006): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0233 | 1 | 228 | 0.0044 | 2013 | c.106 others(2032): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(2006): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0060 | 1 | 76 | 0.0132 | 2013 | c.955 others(2030): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123911541 | C | CTGTCCTG others(2006): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0005 | a0005c0007 | a0005c0007t0002 | a0005c0007t0002g0041 | 1 | 127 | 0.0079 | 2013 | c.101 others(2032): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
FAM120B_chr6_170301758_170412067 | 170377297 | T | TCCCAGAC others(2006): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0069 | 1 | 251 | 0.0040 | 2013 | c.228 others(2034): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
HLA-DRB1_chr6_32573775_32594848 | 32584974 | T | TAGGATGA others(2006): Show |
intron_variant | MODIFIER | HG00280.hp2 HG02071.hp1 HG02071.hp2 others(6): Show |
a0013a0016 | a0013c0015a0016c0018 | a0013c0015t0008a0016c0018t0008 | a0013c0015t0008g0012 a0016c0018t0008g0027 a0016c0018t0008g0038 others(1): Show |
9 | 81 | 0.1111 | 2013 | c.101 others(2028): Show |
HLA-DRB1 | ENSG00000196126.12 | transcript | ENST00000360004.6 | protein_coding | 1/5 | chr6 | TogoVar | |||||||
HLA-DRB1_chr6_32573775_32594848 | 32584974 | T | TAGGATGA others(2006): Show |
intron_variant | MODIFIER | NA18968.hp2 NA19004.hp1 NA19060.hp1 others(1): Show |
a0019 | a0019c0020 | a0019c0020t0010 | a0019c0020t0010g0019 | 4 | 76 | 0.0526 | 2013 | c.101 others(2028): Show |
HLA-DRB1 | ENSG00000196126.12 | transcript | ENST00000360004.6 | protein_coding | 1/5 | chr6 | TogoVar | |||||||
HLA-DRB1_chr6_32573775_32594848 | 32584974 | T | TAGGATGA others(2006): Show |
intron_variant | MODIFIER | HG02280.hp1 NA18522.hp2 |
a0023 | a0023c0022 | a0023c0022t0012 | a0023c0022t0012g0026 | 2 | 74 | 0.0270 | 2013 | c.101 others(2028): Show |
HLA-DRB1 | ENSG00000196126.12 | transcript | ENST00000360004.6 | protein_coding | 1/5 | chr6 | TogoVar | |||||||
HLA-DRB1_chr6_32573775_32594848 | 32584974 | T | TAGGATGA others(2006): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01884.hp1 HG02055.hp1 others(3): Show |
a0020a0023a0025 | a0020c0023a0023c0022a0025c0026 | a0020c0023t0006a0023c0022t0012a0025c0026t0006 | a0020c0023t0006g0034 a0020c0023t0006g0054 a0023c0022t0012g0037 others(1): Show |
6 | 78 | 0.0769 | 2013 | c.101 others(2028): Show |
HLA-DRB1 | ENSG00000196126.12 | transcript | ENST00000360004.6 | protein_coding | 1/5 | chr6 | TogoVar | |||||||
HLA-DRB1_chr6_32573775_32594848 | 32584974 | T | TAGGATGA others(2006): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00642.hp2 HG00733.hp1 others(19): Show |
a0005a0024a0028others(2): Show | a0005c0008a0005c0010a0024c0027others(3): Show | a0005c0008t0006a0005c0010t0009a0024c0027t0006others(3): Show | a0005c0008t0006g0016 a0005c0008t0006g0029 a0005c0008t0006g0030 others(10): Show |
22 | 94 | 0.2340 | 2013 | c.101 others(2028): Show |
HLA-DRB1 | ENSG00000196126.12 | transcript | ENST00000360004.6 | protein_coding | 1/5 | chr6 | TogoVar | |||||||
HLA-DRB1_chr6_32573775_32594848 | 32584974 | T | TAGGATGA others(2006): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01346.hp2 HG02572.hp1 others(11): Show |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0008 a0003c0003t0002g0023 a0003c0003t0002g0028 others(3): Show |
14 | 86 | 0.1628 | 2013 | c.101 others(2028): Show |
HLA-DRB1 | ENSG00000196126.12 | transcript | ENST00000360004.6 | protein_coding | 1/5 | chr6 | TogoVar | |||||||
HLA-DRB1_chr6_32573775_32594848 | 32584974 | T | TAGGATGA others(2006): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0006 | a0006c0005 | a0006c0005t0002 | a0006c0005t0002g0040 | 1 | 73 | 0.0137 | 2013 | c.101 others(2028): Show |
HLA-DRB1 | ENSG00000196126.12 | transcript | ENST00000360004.6 | protein_coding | 1/5 | chr6 | TogoVar | |||||||
HLA-DRB1_chr6_32573775_32594848 | 32584974 | T | TAGGATGA others(2006): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02129.hp2 HG02615.hp1 others(2): Show |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0015 a0003c0003t0002g0041 |
5 | 77 | 0.0649 | 2013 | c.101 others(2028): Show |
HLA-DRB1 | ENSG00000196126.12 | transcript | ENST00000360004.6 | protein_coding | 1/5 | chr6 | TogoVar | |||||||
HLA-DRB1_chr6_32573775_32594848 | 32584974 | T | TAGGATGA others(2006): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(23): Show |
a0002a0014a0021 | a0002c0002a0014c0016a0021c0024 | a0002c0002t0005a0014c0016t0010a0014c0016t0012others(1): Show | a0002c0002t0005g0005 a0002c0002t0005g0011 a0002c0002t0005g0017 others(4): Show |
26 | 98 | 0.2653 | 2013 | c.101 others(2028): Show |
HLA-DRB1 | ENSG00000196126.12 | transcript | ENST00000360004.6 | protein_coding | 1/5 | chr6 | TogoVar | |||||||
HLA-DRB1_chr6_32573775_32594848 | 32584974 | T | TAGGATGA others(2006): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0059 | 1 | 73 | 0.0137 | 2013 | c.101 others(2028): Show |
HLA-DRB1 | ENSG00000196126.12 | transcript | ENST00000360004.6 | protein_coding | 1/5 | chr6 | TogoVar | |||||||
HLA-DRB1_chr6_32573775_32594848 | 32584974 | T | TAGGATGA others(2006): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01243.hp1 HG01255.hp1 others(8): Show |
a0006 | a0006c0005 | a0006c0005t0002 | a0006c0005t0002g0007 a0006c0005t0002g0014 a0006c0005t0002g0036 |
11 | 83 | 0.1325 | 2013 | c.101 others(2028): Show |
HLA-DRB1 | ENSG00000196126.12 | transcript | ENST00000360004.6 | protein_coding | 1/5 | chr6 | TogoVar | |||||||
HPCAL1_chr2_10297904_10432604 | 10399423 | A | ACCACCAC others(2006): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0281 | 1 | 287 | 0.0035 | 2013 | c.-25 others(2030): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | chr2 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132173003 | C | CCTCCCTC others(2006): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0004 | a0004c0009 | a0004c0009t0002 | a0004c0009t0002g0075 | 1 | 155 | 0.0065 | 2013 | c.*11 others(2034): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | chr10 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132173041 | C | CCCCCTCT others(2006): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0022 | a0001c0022t0002 | a0001c0022t0002g0061 | 1 | 95 | 0.0105 | 2013 | c.*11 others(2034): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | chr10 | TogoVar | |||||||
KLHL24_chr3_183630623_183689519 | 183661084 | A | AAAGCCCT others(2006): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01891.hp2 HG02109.hp2 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0010a0001c0002t0019a0001c0002t0020others(1): Show | a0001c0002t0010g0009 a0001c0002t0010g0052 a0001c0002t0010g0053 others(7): Show |
11 | 175 | 0.0629 | 2013 | c.921 others(2030): Show |
KLHL24 | ENSG00000114796.16 | transcript | ENST00000242810.11 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KLHL24_chr3_183630623_183689519 | 183661084 | A | AAAGCCCT others(2006): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00423.hp2 others(114): Show |
a0001a0002 | a0001c0002a0001c0008a0001c0009others(1): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0005others(14): Show | a0001c0002t0002g0003 a0001c0002t0002g0010 a0001c0002t0002g0011 others(108): Show |
117 | 281 | 0.4164 | 2013 | c.921 others(2030): Show |
KLHL24 | ENSG00000114796.16 | transcript | ENST00000242810.11 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KLHL24_chr3_183630623_183689519 | 183661084 | A | AAAGCCCT others(2006): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0250 | 1 | 165 | 0.0061 | 2013 | c.921 others(2030): Show |
KLHL24 | ENSG00000114796.16 | transcript | ENST00000242810.11 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KLHL24_chr3_183630623_183689519 | 183661084 | A | AAAGCCCT others(2006): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02056.hp2 NA18950.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0015 | a0001c0002t0003g0026 a0001c0002t0003g0252 a0001c0002t0015g0239 |
4 | 168 | 0.0238 | 2013 | c.921 others(2030): Show |
KLHL24 | ENSG00000114796.16 | transcript | ENST00000242810.11 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KLHL24_chr3_183630623_183689519 | 183661084 | A | AAAGCCCT others(2006): Show |
intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0101 | 1 | 165 | 0.0061 | 2013 | c.921 others(2030): Show |
KLHL24 | ENSG00000114796.16 | transcript | ENST00000242810.11 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KLHL24_chr3_183630623_183689519 | 183661084 | A | AAAGCCCT others(2006): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0110 | 1 | 165 | 0.0061 | 2013 | c.921 others(2030): Show |
KLHL24 | ENSG00000114796.16 | transcript | ENST00000242810.11 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124507236 | G | GGTAGACA others(2006): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 207 | 0.0048 | 2013 | c.624 others(2030): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124507537 | G | GAGGATTT others(2006): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0140 | 1 | 222 | 0.0045 | 2013 | c.624 others(2030): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MOGAT2_chr11_75712838_75737953 | 75731453 | A | ACTCTGGC others(2006): Show |
3_prime_UTR_variant | MODIFIER | HG02145.hp2 HG03516.hp2 |
a0004 | a0004c0004 | a0004c0004t0013 | a0004c0004t0013g0033 | 2 | 364 | 0.0055 | 2013 | c.*16 others(2022): Show |
MOGAT2 | ENSG00000166391.15 | transcript | ENST00000198801.10 | protein_coding | 6/6 | 169 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
MOGAT2_chr11_75712838_75737953 | 75731453 | A | ACTCTGGC others(2006): Show |
3_prime_UTR_variant | MODIFIER | HG02630.hp1 HG02896.hp2 HG03471.hp1 |
a0004 | a0004c0004 | a0004c0004t0008 | a0004c0004t0008g0029 a0004c0004t0008g0059 a0004c0004t0008g0064 |
3 | 365 | 0.0082 | 2013 | c.*16 others(2022): Show |
MOGAT2 | ENSG00000166391.15 | transcript | ENST00000198801.10 | protein_coding | 6/6 | 169 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
MOGAT2_chr11_75712838_75737953 | 75731453 | A | ACTCTGGC others(2006): Show |
3_prime_UTR_variant | MODIFIER | HG02055.hp2 HG02258.hp2 HG02647.hp2 others(7): Show |
a0001a0002a0004 | a0001c0006a0002c0005a0002c0018others(1): Show | a0001c0006t0006a0001c0006t0033a0002c0005t0006others(2): Show | a0001c0006t0006g0018 a0001c0006t0006g0065 a0001c0006t0006g0075 others(5): Show |
10 | 372 | 0.0269 | 2013 | c.*16 others(2022): Show |
MOGAT2 | ENSG00000166391.15 | transcript | ENST00000198801.10 | protein_coding | 6/6 | 169 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
MOGAT2_chr11_75712838_75737953 | 75731453 | A | ACTCTGGC others(2006): Show |
3_prime_UTR_variant | MODIFIER | HG02280.hp1 HG02809.hp1 |
a0004 | a0004c0004 | a0004c0004t0014 | a0004c0004t0014g0078 a0004c0004t0014g0134 |
2 | 364 | 0.0055 | 2013 | c.*16 others(2022): Show |
MOGAT2 | ENSG00000166391.15 | transcript | ENST00000198801.10 | protein_coding | 6/6 | 169 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PAK2_chr3_196734857_196837647 | 196811201 | C | CCCTTCCC others(2006): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0034 | 1 | 163 | 0.0061 | 2013 | c.773 others(2028): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ZNF407_chr18_74592870_75070671 | 74617096 | A | ACACACAT others(2006): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01952.hp1 |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0011t0004 | a0001c0001t0001g0072 a0001c0011t0004g0045 |
2 | 49 | 0.0408 | 2013 | c.-53 others(2032): Show |
ZNF407 | ENSG00000215421.10 | transcript | ENST00000299687.10 | protein_coding | 1/8 | chr18 | TogoVar | |||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2007): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 44 | 0.0227 | 2014 | c.108 others(2031): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2007): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0163 | 1 | 50 | 0.0200 | 2014 | c.147 others(2031): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1B_chr9_137872782_138129619 | 138126945 | G | GCCCCCGG others(2007): Show |
downstream_gene_variant | MODIFIER | NA19043.hp1 | a0002 | a0002c0004 | a0002c0004t0005 | a0002c0004t0005g0132 | 1 | 136 | 0.0074 | 2014 | c.*49 others(2025): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 2327 | chr9 | TogoVar | |||||||
CNOT3_chr19_54132762_54160681 | 54133733 | T | TCTCTCTC others(2007): Show |
upstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 217 | 0.0046 | 2014 | c.-43 others(2025): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 4028 | chr19 | TogoVar | |||||||
DCLK1_chr13_35763652_36136382 | 35958131 | A | ACTGTAAC others(2007): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0010 | 1 | 45 | 0.0222 | 2014 | c.724 others(2033): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
KIF25_chr6_167992671_168050091 | 167997496 | A | ATCTGCAG others(2007): Show |
upstream_gene_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 162 | 0.0062 | 2014 | c.-19 others(2025): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 174 | chr6 | TogoVar | |||||||
KLHL24_chr3_183630623_183689519 | 183661084 | A | AAAAGCCC others(2007): Show |
intron_variant | MODIFIER | HG04228.hp1 NA18978.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003 | a0001c0002t0002g0121 a0001c0002t0003g0244 |
2 | 166 | 0.0120 | 2014 | c.921 others(2031): Show |
KLHL24 | ENSG00000114796.16 | transcript | ENST00000242810.11 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KLHL24_chr3_183630623_183689519 | 183661084 | A | AAAGCCCT others(2007): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0082 | 1 | 165 | 0.0061 | 2014 | c.921 others(2031): Show |
KLHL24 | ENSG00000114796.16 | transcript | ENST00000242810.11 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |