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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CACNA2D3_chr3_54117552_55079557 | 54763745 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 NA18951.hp2 NA18979.hp1 others(1): Show |
a0001 | a0001c0004a0001c0015a0001c0029 | a0001c0004t0001a0001c0015t0001a0001c0029t0001 | a0001c0004t0001g0007a0001c0004t0001g0031a0001c0015t0001g0108others(1): Show | 4 | 118 | 0.0339 | 8 | c.124 others(25): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 12/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54821641 | G | GTTCTTTC others(1): Show |
intron_variant | MODIFIER | HG01123.hp1 HG03098.hp1 |
a0001 | a0001c0002a0001c0026 | a0001c0002t0001a0001c0026t0009 | a0001c0002t0001g0004a0001c0026t0009g0073 | 2 | 118 | 0.0170 | 8 | c.139 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54821693 | T | TTTCCTTC others(1): Show |
intron_variant | MODIFIER | HG01934.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001a0001c0028 | a0001c0001t0001a0001c0028t0001 | a0001c0001t0001g0100a0001c0028t0001g0090 | 2 | 118 | 0.0170 | 8 | c.139 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54821697 | T | TTTCCTTC others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00639.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0006a0001c0010others(7): Show | a0001c0001t0001a0001c0006t0001a0001c0010t0003others(8): Show | a0001c0001t0001g0024a0001c0001t0001g0035a0001c0006t0001g0009others(9): Show | 12 | 118 | 0.1017 | 8 | c.139 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54821697 | T | TTTCTTTC others(1): Show |
intron_variant | MODIFIER | HG01106.hp1 NA21309.hp2 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0001a0001c0004t0002 | a0001c0003t0001g0084a0001c0004t0002g0008 | 2 | 118 | 0.0170 | 8 | c.139 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54822730 | T | TTTTCTTT others(1): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02922.hp2 NA20752.hp1 |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0001t0003a0001c0012t0005 | a0001c0001t0001g0030a0001c0001t0003g0058a0001c0012t0005g0027 | 3 | 118 | 0.0254 | 8 | c.139 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54822790 | C | CTTTCCTT others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00673.hp1 |
a0001 | a0001c0005a0001c0041 | a0001c0005t0001a0001c0041t0001 | a0001c0005t0001g0111a0001c0041t0001g0085 | 2 | 118 | 0.0170 | 8 | c.139 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 14/37 | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54822832 | T | TTTTCTTT others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00673.hp1 HG02895.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0018others(1): Show | a0001c0001t0003a0001c0003t0001a0001c0018t0001others(1): Show | a0001c0001t0003g0058a0001c0003t0001g0038a0001c0018t0001g0076others(1): Show | 4 | 118 | 0.0339 | 8 | c.139 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54832011 | T | TCATACAC others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01884.hp1 HG02109.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(10): Show | a0001c0001t0001g0016a0001c0001t0001g0037a0001c0001t0003g0058others(12): Show | 15 | 118 | 0.1271 | 8 | c.139 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54859972 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01255.hp1 HG03041.hp1 others(2): Show |
a0001 | a0001c0002a0001c0003a0001c0005 | a0001c0002t0001a0001c0003t0001a0001c0005t0001 | a0001c0002t0001g0012a0001c0002t0001g0115a0001c0003t0001g0042others(2): Show | 5 | 118 | 0.0424 | 8 | c.162 others(29): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 17/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54859972 | G | GCGCGCAC others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00639.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(2): Show | a0001c0001t0001g0100a0001c0002t0001g0004a0001c0005t0001g0111others(2): Show | 5 | 118 | 0.0424 | 8 | c.162 others(29): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 17/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54859972 | G | GCGCGCGC others(1): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02486.hp1 HG03225.hp1 |
a0001 | a0001c0001a0001c0006a0001c0007 | a0001c0001t0002a0001c0006t0001a0001c0007t0001 | a0001c0001t0002g0003a0001c0006t0001g0017a0001c0007t0001g0043 | 3 | 118 | 0.0254 | 8 | c.162 others(29): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 17/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54883799 | A | ATCTCTCT others(1): Show |
intron_variant | MODIFIER | HG02717.hp1 HG03516.hp2 NA19240.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0040a0001c0002t0001g0060a0001c0002t0002g0091 | 3 | 118 | 0.0254 | 8 | c.191 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 21/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54886935 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02615.hp1 HG02615.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(4): Show | a0001c0001t0001g0089a0001c0001t0001g0104a0001c0002t0001g0020others(5): Show | 8 | 118 | 0.0678 | 8 | c.205 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 23/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54891180 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG01258.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0033a0001c0001t0001g0034a0001c0001t0001g0053others(16): Show | 19 | 118 | 0.1610 | 8 | c.215 others(25): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 24/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54898064 | C | CGCTTGCT others(1): Show |
intron_variant | MODIFIER | HG02895.hp1 NA20300.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0053a0001c0003t0001g0038 | 2 | 118 | 0.0170 | 8 | c.236 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 26/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54911351 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01106.hp2 HG01884.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(4): Show | a0001c0001t0001g0033a0001c0001t0001g0034a0001c0001t0001g0037others(8): Show | 11 | 118 | 0.0932 | 8 | c.244 others(29): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 27/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54933037 | A | ATCCCTCC others(1): Show |
intron_variant | MODIFIER | HG02970.hp1 NA20300.hp1 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0001 | a0001c0001t0001g0068a0001c0009t0001g0013 | 2 | 118 | 0.0170 | 8 | c.244 others(29): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 27/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54962053 | T | TCATTAAT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00423.hp1 others(23): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(17): Show | a0001c0001t0001g0006a0001c0001t0001g0010a0001c0001t0001g0046others(23): Show | 26 | 118 | 0.2203 | 8 | c.245 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 27/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54993885 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03130.hp1 HG03130.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0032 | a0001c0001t0001a0001c0001t0012a0001c0002t0001others(1): Show | a0001c0001t0001g0034a0001c0001t0012g0063a0001c0002t0001g0020others(2): Show | 5 | 118 | 0.0424 | 8 | c.269 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 31/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 55019079 | T | TTTTCTTT others(1): Show |
intron_variant | MODIFIER | HG02630.hp2 HG03098.hp1 HG03130.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0012a0001c0002t0001others(3): Show | a0001c0001t0001g0034a0001c0001t0012g0063a0001c0002t0001g0081others(3): Show | 6 | 118 | 0.0509 | 8 | c.298 others(25): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 35/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 55067716 | G | GATACATA others(1): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01934.hp1 HG02109.hp2 others(7): Show |
a0001a0002 | a0001c0002a0001c0007a0001c0010others(6): Show | a0001c0002t0001a0001c0007t0001a0001c0010t0006others(6): Show | a0001c0002t0001g0060a0001c0007t0001g0043a0001c0007t0001g0067others(7): Show | 10 | 118 | 0.0848 | 8 | c.298 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 35/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 55074962 | A | ATGATTGA others(1): Show |
downstream_gene_variant | MODIFIER | HG01106.hp1 HG02300.hp1 HG03516.hp1 |
a0001 | a0001c0002a0001c0004a0001c0021 | a0001c0002t0002a0001c0004t0002a0001c0021t0002 | a0001c0002t0002g0066a0001c0004t0002g0008a0001c0021t0002g0023 | 3 | 118 | 0.0254 | 8 | c.*75 others(17): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 406 | chr3 | TogoVar | ||||||
CACNA2D4_chr12_1786963_1923652 | 1804121 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01167.hp2 HG01433.hp2 others(4): Show |
a0001a0002a0018 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0003a0001c0002t0002a0001c0006t0001others(3): Show | a0001c0001t0003g0049a0001c0001t0003g0171a0001c0002t0002g0198others(4): Show | 7 | 318 | 0.0220 | 8 | c.272 others(27): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 29/37 | chr12 | TogoVar | ||||||
CACNA2D4_chr12_1786963_1923652 | 1851680 | T | TGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01074.hp2 HG03195.hp2 others(1): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0001t0010a0001c0001t0022others(1): Show | a0001c0001t0001g0266a0001c0001t0010g0149a0001c0001t0022g0164others(1): Show | 4 | 318 | 0.0126 | 8 | c.224 others(27): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 23/37 | chr12 | TogoVar | ||||||
CACNA2D4_chr12_1786963_1923652 | 1878655 | T | TAATCTCA others(1): Show |
intron_variant | MODIFIER | NA18939.hp1 NA18983.hp1 NA19010.hp2 |
a0001 | a0001c0003a0001c0010 | a0001c0003t0002a0001c0010t0001 | a0001c0003t0002g0061a0001c0010t0001g0057a0001c0010t0001g0062 | 3 | 318 | 0.0094 | 8 | c.164 others(25): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 15/37 | chr12 | TogoVar | ||||||
CACNA2D4_chr12_1786963_1923652 | 1898677 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01433.hp2 HG03225.hp2 NA19084.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0002g0037a0001c0001t0003g0171a0001c0002t0001g0212others(1): Show | 4 | 318 | 0.0126 | 8 | c.781 others(25): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 6/37 | chr12 | TogoVar | ||||||
CACNB1_chr17_39168453_39202669 | 39182700 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01361.hp2 HG01928.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0006a0001c0001t0001g0176a0001c0001t0001g0186others(6): Show | 13 | 396 | 0.0328 | 8 | c.105 others(27): Show |
CACNB1 | ENSG00000067191.17 | transcript | ENST00000394303.8 | protein_coding | 11/13 | chr17 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18137084 | C | CTCCTTCC others(1): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG00642.hp1 HG00738.hp2 others(32): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0001g0025a0001c0001t0001g0066a0001c0001t0001g0079others(32): Show | 35 | 200 | 0.1750 | 8 | c.-36 others(19): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3339 | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18152736 | A | AAACAAAA others(1): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01516.hp2 HG01978.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0009a0002c0003t0056 | a0001c0001t0009g0052a0001c0001t0009g0177a0002c0003t0056g0053 | 3 | 200 | 0.0150 | 8 | c.213 others(25): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18153563 | C | CTTATTTA others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00609.hp2 others(50): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(18): Show | a0001c0001t0001g0002a0001c0001t0001g0031a0001c0001t0001g0032others(50): Show | 53 | 200 | 0.2650 | 8 | c.213 others(25): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18199941 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01074.hp2 HG01169.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(7): Show | a0001c0001t0001g0010a0001c0001t0001g0066a0001c0001t0001g0127others(14): Show | 17 | 200 | 0.0850 | 8 | c.213 others(27): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18220201 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG02615.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008 | a0001c0001t0006g0017a0001c0001t0008g0180 | 2 | 200 | 0.0100 | 8 | c.213 others(27): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18220201 | G | GTGTATAT others(1): Show |
intron_variant | MODIFIER | HG02896.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0032 | a0001c0001t0001g0096a0001c0001t0032g0120 | 2 | 200 | 0.0100 | 8 | c.213 others(27): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18220237 | A | AGTTGGGG others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02083.hp2 HG02622.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0011a0001c0001t0012others(3): Show | a0001c0001t0004g0149a0001c0001t0004g0153a0001c0001t0011g0029others(5): Show | 8 | 200 | 0.0400 | 8 | c.213 others(27): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18222407 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(65): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(26): Show | a0001c0001t0001g0010a0001c0001t0001g0025a0001c0001t0001g0036others(65): Show | 68 | 200 | 0.3400 | 8 | c.213 others(27): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18228433 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00741.hp1 HG01069.hp1 others(22): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(8): Show | a0001c0001t0001g0025a0001c0001t0001g0037a0001c0001t0001g0049others(22): Show | 25 | 200 | 0.1250 | 8 | c.213 others(27): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18228441 | A | AAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02451.hp1 HG02559.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0011a0001c0001t0012a0001c0001t0036others(5): Show | a0001c0001t0011g0029a0001c0001t0012g0003a0001c0001t0036g0176others(7): Show | 10 | 200 | 0.0500 | 8 | c.213 others(27): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18288676 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01071.hp1 HG02615.hp1 HG02818.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0007a0001c0001t0021a0002c0003t0013 | a0001c0001t0007g0088a0001c0001t0021g0060a0001c0001t0021g0077others(1): Show | 4 | 200 | 0.0200 | 8 | c.214 others(29): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18325689 | C | CCCTCCCT others(1): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01361.hp1 HG02486.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0002a0001c0001t0003g0044a0001c0001t0003g0064others(7): Show | 10 | 200 | 0.0500 | 8 | c.214 others(27): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18335784 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG02055.hp2 HG03225.hp1 HG03471.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0008a0001c0002t0002 | a0001c0001t0004g0167a0001c0001t0008g0180a0001c0002t0002g0179 | 3 | 200 | 0.0150 | 8 | c.214 others(27): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18356938 | A | ATGTCTTT others(1): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01884.hp2 HG02486.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0003a0001c0001t0004a0001c0001t0012others(5): Show | a0001c0001t0003g0064a0001c0001t0004g0153a0001c0001t0012g0198others(7): Show | 10 | 200 | 0.0500 | 8 | c.214 others(27): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18358497 | G | GCTCTCTC others(1): Show |
intron_variant | MODIFIER | HG03453.hp1 NA18983.hp1 NA20805.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0012a0002c0003t0014 | a0001c0001t0001g0036a0001c0001t0012g0003a0002c0003t0014g0073 | 3 | 200 | 0.0150 | 8 | c.214 others(27): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18407109 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG02622.hp2 HG03453.hp1 HG03453.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0011a0001c0001t0012a0001c0001t0055others(4): Show | a0001c0001t0011g0029a0001c0001t0012g0003a0001c0001t0055g0170others(5): Show | 8 | 200 | 0.0400 | 8 | c.333 others(25): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18426955 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01358.hp1 HG01361.hp2 HG02148.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(6): Show | a0001c0001t0001g0025a0001c0001t0001g0099a0001c0001t0001g0131others(11): Show | 14 | 200 | 0.0700 | 8 | c.333 others(27): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18481192 | C | CTATATAT others(1): Show |
intron_variant | MODIFIER | HG01258.hp1 HG02818.hp1 HG03942.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0005 | a0001c0001t0001g0131a0001c0002t0002g0069a0001c0002t0002g0091others(1): Show | 4 | 200 | 0.0200 | 8 | c.334 others(27): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18495591 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01257.hp2 HG01258.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0023a0001c0001t0045others(1): Show | a0001c0001t0001g0037a0001c0001t0001g0066a0001c0001t0023g0191others(3): Show | 6 | 200 | 0.0300 | 8 | c.334 others(25): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18545868 | T | TAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(135): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(37): Show | a0001c0001t0001g0002a0001c0001t0001g0008a0001c0001t0001g0010others(135): Show | 138 | 200 | 0.6900 | 8 | c.*61 others(19): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2312 | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18335784 | A | AACACACA others(1): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 HG03225.hp2 HG03239.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0002t0002others(1): Show | a0001c0001t0001g0002a0001c0001t0007g0003a0001c0002t0002g0293others(1): Show | 4 | 302 | 0.0133 | 8 | c.-51 others(19): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 4924 | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18356938 | A | ATGTCTTT others(1): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01070.hp2 HG01884.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(7): Show | a0001c0001t0001g0174a0001c0001t0001g0259a0001c0001t0003g0208others(14): Show | 17 | 302 | 0.0563 | 8 | c.51+ others(25): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |