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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFI_chr4_109735695_109806999 | 109756888 | G | GGAAAGAA others(24): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 48 | 0.0208 | 31 | c.904 others(46): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | |||||||
CFTR_chr7_117475025_117673665 | 117636910 | T | TGGGTTCA others(24): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02280.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 a0001c0001t0002g0004 |
2 | 200 | 0.0100 | 31 | c.371 others(50): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CGAS_chr6_73418711_73457297 | 73453568 | C | CTTTTTTT others(24): Show |
upstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0014 | 1 | 29 | 0.0345 | 31 | c.-13 others(42): Show |
CGAS | ENSG00000164430.17 | transcript | ENST00000370315.4 | protein_coding | 1272 | chr6 | TogoVar | |||||||
CGNL1_chr15_57371505_57555717 | 57394101 | G | GTTTTTTT others(24): Show |
intron_variant | MODIFIER | HG00733.hp2 HG02818.hp1 HG03041.hp1 others(4): Show |
a0001a0002a0028 | a0001c0001a0002c0002a0002c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0227 a0001c0001t0001g0247 a0001c0001t0002g0033 others(4): Show |
7 | 188 | 0.0372 | 31 | c.-16 others(50): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57442182 | G | GGAAAAAA others(24): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01070.hp2 HG01928.hp2 others(1): Show |
a0001a0002a0016 | a0001c0005a0002c0002a0002c0008others(1): Show | a0001c0005t0002a0002c0002t0002a0002c0008t0003others(1): Show | a0001c0005t0002g0215 a0002c0002t0002g0093 a0002c0008t0003g0014 others(1): Show |
4 | 20 | 0.2000 | 31 | c.169 others(48): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 3/18 | chr15 | TogoVar | |||||||
CGREF1_chr2_27095594_27124128 | 27116923 | C | CTCTCTCT others(24): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004 | 1 | 195 | 0.0051 | 31 | c.-12 others(48): Show |
CGREF1 | ENSG00000138028.17 | transcript | ENST00000402394.6 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
CGREF1_chr2_27095594_27124128 | 27116924 | T | TCTCTCTC others(24): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0254 | 1 | 313 | 0.0032 | 31 | c.-12 others(48): Show |
CGREF1 | ENSG00000138028.17 | transcript | ENST00000402394.6 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
CHAF1A_chr19_4397640_4448397 | 4408461 | C | CTTTTTTT others(24): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0022 | a0001c0022t0001 | a0001c0022t0001g0135 | 1 | 44 | 0.0227 | 31 | c.104 others(46): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CHAF1A_chr19_4397640_4448397 | 4427136 | C | CTTTTTTT others(24): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0338 | 1 | 7 | 0.1429 | 31 | c.137 others(50): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CHAF1B_chr21_36380392_36424015 | 36389800 | T | TGTGTGTG others(24): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0296 | 1 | 145 | 0.0069 | 31 | c.260 others(48): Show |
CHAF1B | ENSG00000159259.8 | transcript | ENST00000314103.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 132824314 | C | CTTTTTTT others(24): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 114 | 0.0088 | 31 | c.524 others(50): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 6/7 | chr7 | TogoVar | |||||||
CHCHD3_chr7_132779870_133087090 | 133006263 | A | AGAGACCA others(24): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 308 | 0.0032 | 31 | c.251 others(50): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 3/7 | chr7 | TogoVar | |||||||
CHCHD6_chr3_126699240_126965420 | 126824560 | C | CAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 5 | 0.2000 | 31 | c.412 others(50): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHD1_chr5_98848985_98934007 | 98911146 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0058 | 1 | 119 | 0.0084 | 31 | c.54- others(46): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 2/35 | chr5 | TogoVar | |||||||
CHD3_chr17_7883789_7917755 | 7893969 | G | GGGGCCAA others(24): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00423.hp2 others(85): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0016 others(47): Show |
88 | 351 | 0.2507 | 31 | c.924 others(44): Show |
CHD3 | ENSG00000170004.19 | transcript | ENST00000330494.12 | protein_coding | 6/39 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CHD9_chr16_53049991_53332497 | 53146419 | G | GTATATAT others(24): Show |
intron_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 34 | 0.0294 | 31 | c.-16 others(50): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 1/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CHD9_chr16_53049991_53332497 | 53146437 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 236 | 0.0042 | 31 | c.-16 others(50): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 1/38 | chr16 | TogoVar | |||||||
CHL1_chr3_191763_414417 | 239595 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0043 | 1 | 174 | 0.0057 | 31 | c.-17 others(50): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 1/27 | chr3 | TogoVar | |||||||
CHL1_chr3_191763_414417 | 319117 | C | CGGACATA others(24): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG00558.hp2 others(34): Show |
a0001a0002a0003others(8): Show | a0001c0001a0002c0002a0003c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 others(34): Show |
37 | 288 | 0.1285 | 31 | c.-94 others(46): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 319160 | T | TAAGAATA others(24): Show |
intron_variant | MODIFIER | HG01952.hp1 HG02258.hp2 HG02486.hp1 others(10): Show |
a0002a0003a0007others(1): Show | a0002c0002a0003c0003a0007c0024others(1): Show | a0002c0002t0002a0002c0002t0023a0003c0003t0001others(6): Show | a0002c0002t0002g0250 a0002c0002t0023g0145 a0003c0003t0001g0109 others(10): Show |
13 | 288 | 0.0451 | 31 | c.-94 others(46): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHMP4A_chr14_24204615_24218488 | 24209057 | G | GAAAGCTA others(24): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00597.hp1 others(53): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 others(12): Show |
56 | 156 | 0.3590 | 31 | c.*81 others(40): Show |
CHMP4A | ENSG00000254505.11 | transcript | ENST00000347519.12 | protein_coding | 557 | chr14 | TogoVar | |||||||
CHMP4A_chr14_24204615_24218488 | 24209057 | G | GAAAGCTA others(24): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00438.hp2 others(67): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0016 others(6): Show |
70 | 170 | 0.4118 | 31 | c.*81 others(40): Show |
CHMP4A | ENSG00000254505.11 | transcript | ENST00000347519.12 | protein_coding | 557 | chr14 | TogoVar | |||||||
CHM_chrX_85856180_86052558 | 85856289 | T | TAAAAAAA others(24): Show |
downstream_gene_variant | MODIFIER | NA20129.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 a0001c0001t0001g0210 |
2 | 114 | 0.0175 | 31 | c.*83 others(42): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 4890 | chrX | TogoVar | |||||||
CHN2_chr7_29189775_29519328 | 29252578 | G | GTTTTTTT others(24): Show |
intron_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0185 | 1 | 117 | 0.0085 | 31 | c.49+ others(48): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29442934 | C | CTTTTTTT others(24): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0092 | 1 | 89 | 0.0112 | 31 | c.577 others(50): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHODL_chr21_18239833_18272370 | 18248895 | A | AATACATA others(24): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02109.hp1 HG02630.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0001g0016 a0001c0001t0001g0068 a0001c0001t0001g0069 others(9): Show |
14 | 389 | 0.0360 | 31 | c.79+ others(46): Show |
CHODL | ENSG00000154645.14 | transcript | ENST00000299295.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CHODL_chr21_18239833_18272370 | 18248914 | T | TACATATA others(24): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0298 | 1 | 400 | 0.0025 | 31 | c.79+ others(46): Show |
CHODL | ENSG00000154645.14 | transcript | ENST00000299295.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239383054 | G | GTCTCTCT others(24): Show |
upstream_gene_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 49 | 0.0204 | 31 | c.-46 others(42): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 3513 | chr1 | TogoVar | |||||||
CHRM3_chr1_239381568_239920450 | 239385815 | C | CTCTTTCT others(24): Show |
upstream_gene_variant | MODIFIER | HG01515.hp2 HG02723.hp1 NA18955.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0010a0001c0001t0012others(1): Show | a0001c0001t0007g0055 a0001c0001t0010g0110 a0001c0001t0012g0028 others(1): Show |
4 | 39 | 0.1026 | 31 | c.-19 others(42): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 752 | chr1 | TogoVar | |||||||
CHRNA2_chr8_27454756_27484261 | 27480467 | A | AGAAAAGG others(24): Show |
upstream_gene_variant | MODIFIER | HG02280.hp2 | a0003 | a0003c0003 | a0003c0003t0055 | a0003c0003t0055g0272 | 1 | 427 | 0.0023 | 31 | c.-17 others(42): Show |
CHRNA2 | ENSG00000120903.13 | transcript | ENST00000407991.3 | protein_coding | 1207 | chr8 | TogoVar | |||||||
CHRNA5_chr15_78560520_78600269 | 78570424 | A | ATTTTTTT others(24): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0220 | 1 | 89 | 0.0112 | 31 | c.106 others(48): Show |
CHRNA5 | ENSG00000169684.13 | transcript | ENST00000299565.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CHRNB3_chr8_42692366_42742407 | 42703435 | A | AAAAAAAA others(24): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0164 | 1 | 167 | 0.0060 | 31 | c.53- others(46): Show |
CHRNB3 | ENSG00000147432.7 | transcript | ENST00000289957.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CHRNB3_chr8_42692366_42742407 | 42703435 | A | AAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01258.hp1 HG02109.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0160 a0001c0001t0002g0169 a0001c0001t0002g0170 others(1): Show |
4 | 170 | 0.0235 | 31 | c.53- others(46): Show |
CHRNB3 | ENSG00000147432.7 | transcript | ENST00000289957.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CHRNB3_chr8_42692366_42742407 | 42703435 | A | AAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG00423.hp2 NA18944.hp2 NA18948.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0155 a0001c0001t0002g0202 a0001c0001t0002g0242 |
3 | 169 | 0.0178 | 31 | c.53- others(46): Show |
CHRNB3 | ENSG00000147432.7 | transcript | ENST00000289957.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CHRNB3_chr8_42692366_42742407 | 42703435 | A | AAAAAAAT others(24): Show |
intron_variant | MODIFIER | HG00597.hp1 NA18948.hp1 NA18999.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 a0001c0001t0002g0218 a0001c0001t0002g0219 others(1): Show |
5 | 171 | 0.0292 | 31 | c.53- others(46): Show |
CHRNB3 | ENSG00000147432.7 | transcript | ENST00000289957.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CHRNB3_chr8_42692366_42742407 | 42717403 | A | AAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01071.hp1 NA19065.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 a0001c0001t0002g0151 a0001c0001t0002g0222 |
3 | 18 | 0.1667 | 31 | c.249 others(48): Show |
CHRNB3 | ENSG00000147432.7 | transcript | ENST00000289957.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CHST11_chr12_104451948_104767014 | 104544138 | A | AAAGAAAG others(24): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0206 | 1 | 169 | 0.0059 | 31 | c.119 others(50): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CHST15_chr10_124002668_124098598 | 124045112 | C | CAAAAAAA others(24): Show |
intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0026 | 1 | 279 | 0.0036 | 31 | c.547 others(46): Show |
CHST15 | ENSG00000182022.18 | transcript | ENST00000435907.6 | protein_coding | 2/7 | chr10 | TogoVar | |||||||
CIP2A_chr3_108544864_108594438 | 108553894 | T | TACAAAAA others(24): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01943.hp2 HG02145.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0103 a0001c0001t0001g0206 a0001c0001t0001g0207 others(1): Show |
4 | 120 | 0.0333 | 31 | c.232 others(48): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 18/20 | chr3 | TogoVar | |||||||
CIR1_chr2_174343022_174400712 | 174354615 | A | ATTTTATA others(24): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02647.hp1 HG02809.hp1 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0012 a0002c0002t0003g0013 a0002c0002t0003g0043 others(4): Show |
9 | 346 | 0.0260 | 31 | c.485 others(48): Show |
CIR1 | ENSG00000138433.16 | transcript | ENST00000342016.8 | protein_coding | 7/9 | chr2 | TogoVar | |||||||
CKAP4_chr12_106232881_106253020 | 106237526 | C | CAAAAAAA others(24): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 HG01123.hp1 HG02015.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003 | a0001c0002t0002g0002 a0001c0002t0002g0119 a0001c0002t0003g0003 |
7 | 142 | 0.0493 | 31 | c.*14 others(42): Show |
CKAP4 | ENSG00000136026.14 | transcript | ENST00000378026.5 | protein_coding | 354 | chr12 | TogoVar | |||||||
CKMT2_chr5_81228322_81271398 | 81250940 | A | ACACACAC others(24): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0200 | 1 | 84 | 0.0119 | 31 | c.-20 others(46): Show |
CKMT2 | ENSG00000131730.16 | transcript | ENST00000254035.9 | protein_coding | 1/9 | chr5 | TogoVar | |||||||
CLASP2_chr3_33491245_33723254 | 33568553 | C | CAAAAAAA others(24): Show |
intron_variant | MODIFIER | NA18979.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0041 a0001c0001t0004g0230 |
2 | 122 | 0.0164 | 31 | c.276 others(50): Show |
CLASP2 | ENSG00000163539.19 | transcript | ENST00000682230.1 | protein_coding | 26/38 | chr3 | TogoVar | |||||||
CLASP2_chr3_33491245_33723254 | 33571015 | A | ATTTTTTT others(24): Show |
intron_variant | MODIFIER | HG02083.hp1 HG03491.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0059 a0001c0001t0002g0065 |
2 | 153 | 0.0131 | 31 | c.270 others(48): Show |
CLASP2 | ENSG00000163539.19 | transcript | ENST00000682230.1 | protein_coding | 25/38 | chr3 | TogoVar | |||||||
CLBA1_chr14_104980788_105000516 | 104993994 | C | CTGCCCCC others(24): Show |
intron_variant | MODIFIER | HG02132.hp2 HG02155.hp1 NA18747.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0030 a0001c0001t0003g0059 |
3 | 442 | 0.0068 | 31 | c.817 others(46): Show |
CLBA1 | ENSG00000140104.14 | transcript | ENST00000547315.6 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CLCN7_chr16_1439935_1480028 | 1450328 | C | CAGGACAA others(24): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00642.hp2 HG00735.hp1 others(17): Show |
a0002 | a0002c0006a0002c0011a0002c0012others(1): Show | a0002c0006t0010a0002c0006t0024a0002c0006t0025others(6): Show | a0002c0006t0010g0011 a0002c0006t0010g0254 a0002c0006t0010g0255 others(16): Show |
20 | 402 | 0.0498 | 31 | c.161 others(48): Show |
CLCN7 | ENSG00000103249.19 | transcript | ENST00000382745.9 | protein_coding | 17/24 | chr16 | TogoVar | |||||||
CLDN19_chr1_42728093_42745236 | 42729451 | A | ATATATAT others(24): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 7 | 0.1429 | 31 | c.*56 others(42): Show |
CLDN19 | ENSG00000164007.11 | transcript | ENST00000296387.6 | protein_coding | 3641 | chr1 | TogoVar | |||||||
CLEC16A_chr16_10939564_11187186 | 10940668 | G | GCCTCTCT others(24): Show |
upstream_gene_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0154 | 1 | 272 | 0.0037 | 31 | c.-40 others(42): Show |
CLEC16A | ENSG00000038532.17 | transcript | ENST00000409790.6 | protein_coding | 3895 | chr16 | TogoVar | |||||||
CLEC4A_chr12_8118617_8143607 | 8135047 | C | CTTTTTTT others(24): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0200 | 1 | 19 | 0.0526 | 31 | c.299 others(46): Show |
CLEC4A | ENSG00000111729.15 | transcript | ENST00000229332.12 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CLEC4G_chr19_7723957_7737110 | 7732906 | A | AAAAAAAA others(24): Show |
upstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 50 | 0.0200 | 31 | c.-80 others(40): Show |
CLEC4G | ENSG00000182566.15 | transcript | ENST00000328853.11 | protein_coding | 797 | chr19 | TogoVar |