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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CACNA2D3_chr3_54117552_55079557 | 54891180 | C | CGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02280.hp1 HG03453.hp1 |
a0001 | a0001c0003a0001c0005a0001c0010 | a0001c0003t0001a0001c0005t0001a0001c0010t0006 | a0001c0003t0001g0094 a0001c0005t0001g0088 a0001c0010t0006g0062 |
3 | 118 | 0.0254 | 10 | c.215 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 24/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54911351 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02615.hp1 HG02895.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(2): Show | a0001c0001t0001g0053 a0001c0001t0001g0104 a0001c0003t0001g0038 others(4): Show |
7 | 118 | 0.0593 | 10 | c.244 others(31): 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(3): Show |
intron_variant | MODIFIER | HG01169.hp2 HG02976.hp2 |
a0001 | a0001c0007a0001c0010 | a0001c0007t0001a0001c0010t0001 | a0001c0007t0001g0044 a0001c0010t0001g0065 |
2 | 118 | 0.0170 | 10 | c.269 others(29): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 31/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 55008888 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG01934.hp1 HG03041.hp1 HG06807.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0010others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0010t0006others(1): Show | a0001c0001t0001g0016 a0001c0001t0001g0100 a0001c0003t0001g0042 others(2): Show |
5 | 118 | 0.0424 | 10 | c.282 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 33/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 55038864 | C | CTATATAT others(3): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0095 | 1 | 118 | 0.0085 | 10 | c.298 others(31): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 35/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 55038907 | T | TATATATA others(3): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0044 | 1 | 118 | 0.0085 | 10 | c.298 others(31): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 35/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D4_chr12_1786963_1923652 | 1790386 | C | CGTGCTAG others(3): Show |
downstream_gene_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 318 | 0.0031 | 10 | c.*32 others(21): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 1576 | chr12 | TogoVar | |||||||
CACNA2D4_chr12_1786963_1923652 | 1802015 | C | CTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0232 | 1 | 318 | 0.0031 | 10 | c.272 others(27): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 29/37 | chr12 | TogoVar | |||||||
CACNA2D4_chr12_1786963_1923652 | 1804121 | C | CTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG03239.hp2 HG03710.hp2 HG04199.hp1 |
a0001 | a0001c0001a0001c0014 | a0001c0001t0001a0001c0014t0003 | a0001c0001t0001g0179 a0001c0001t0001g0191 a0001c0014t0003g0304 |
3 | 318 | 0.0094 | 10 | c.272 others(29): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 29/37 | chr12 | TogoVar | |||||||
CACNA2D4_chr12_1786963_1923652 | 1851680 | T | TGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0224 | 1 | 318 | 0.0031 | 10 | c.224 others(29): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 23/37 | chr12 | TogoVar | |||||||
CACNA2D4_chr12_1786963_1923652 | 1898677 | C | CTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0043 | a0001c0043t0001 | a0001c0043t0001g0047 | 1 | 318 | 0.0031 | 10 | c.781 others(27): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 6/37 | chr12 | TogoVar | |||||||
CACNB2_chr10_18135424_18548557 | 18168497 | T | TTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01257.hp1 HG01257.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0023others(3): Show | a0001c0001t0001g0143 a0001c0001t0001g0190 a0001c0001t0003g0144 others(5): Show |
8 | 200 | 0.0400 | 10 | c.213 others(29): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18171521 | G | GAAAAAAA others(3): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 200 | 0.0050 | 10 | c.213 others(29): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18172924 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01069.hp1 HG01069.hp2 others(35): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0010 a0001c0001t0001g0033 a0001c0001t0001g0034 others(35): Show |
38 | 200 | 0.1900 | 10 | c.213 others(29): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18181562 | T | TTTTTATT others(3): Show |
intron_variant | MODIFIER | HG01109.hp2 NA20129.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0059 | a0001c0001t0001g0049 a0001c0002t0059g0054 |
2 | 200 | 0.0100 | 10 | c.213 others(29): 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(3): Show |
intron_variant | MODIFIER | HG00738.hp1 HG00741.hp1 HG01069.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(4): Show | a0001c0001t0001g0036 a0001c0001t0001g0079 a0001c0001t0001g0094 others(8): Show |
11 | 200 | 0.0550 | 10 | c.213 others(29): 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(3): Show |
intron_variant | MODIFIER | HG03942.hp1 NA19043.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0045 | a0001c0001t0001g0037 a0001c0001t0001g0049 a0001c0001t0045g0128 |
3 | 200 | 0.0150 | 10 | c.213 others(29): 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(3): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0005 | a0001c0005t0022 | a0001c0005t0022g0090 | 1 | 200 | 0.0050 | 10 | c.213 others(29): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18220221 | A | AGAGGGGG others(3): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0167 | 1 | 200 | 0.0050 | 10 | c.213 others(29): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | chr10 | TogoVar | |||||||
CACNB2_chr10_18135424_18548557 | 18222407 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01496.hp1 HG01891.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0018others(6): Show | a0001c0001t0001g0032 a0001c0001t0001g0079 a0001c0001t0012g0135 others(7): Show |
10 | 200 | 0.0500 | 10 | c.213 others(29): 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(3): Show |
intron_variant | MODIFIER | HG02896.hp2 HG03704.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0041 | a0001c0001t0001g0096 a0001c0001t0041g0074 |
2 | 200 | 0.0100 | 10 | c.213 others(29): 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(3): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(6): Show | a0001c0001t0001g0049 a0001c0001t0001g0058 a0001c0001t0003g0026 others(8): Show |
11 | 200 | 0.0550 | 10 | c.214 others(31): 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(3): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0164 | 1 | 200 | 0.0050 | 10 | 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 | 18393187 | T | TGACAGAG others(3): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(156): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(47): Show | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0010 others(156): Show |
159 | 200 | 0.7950 | 10 | 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(3): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG01243.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0171 a0001c0001t0003g0108 others(9): Show |
12 | 200 | 0.0600 | 10 | 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(3): Show |
intron_variant | MODIFIER | HG01361.hp1 HG02258.hp2 HG04199.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0018a0001c0002t0002a0001c0002t0005 | a0001c0001t0018g0011 a0001c0002t0002g0187 a0001c0002t0005g0057 |
3 | 200 | 0.0150 | 10 | c.334 others(29): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18481230 | A | ATATATAT others(3): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02886.hp1 HG03225.hp2 |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0003a0001c0002t0002a0002c0003t0013 | a0001c0001t0003g0144 a0001c0002t0002g0059 a0002c0003t0013g0022 |
3 | 200 | 0.0150 | 10 | c.334 others(29): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18481230 | A | ATATATAT others(3): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0003 | 1 | 200 | 0.0050 | 10 | c.334 others(29): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18491819 | T | TAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0183 | 1 | 200 | 0.0050 | 10 | 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(3): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0182 | 1 | 200 | 0.0050 | 10 | 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 | 18532676 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0003 | 1 | 200 | 0.0050 | 10 | c.105 others(29): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18536243 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG02040.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0012 | a0001c0001t0004g0152 a0001c0001t0012g0003 |
2 | 200 | 0.0100 | 10 | c.130 others(25): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18358497 | G | GCTCTCTC others(3): Show |
intron_variant | MODIFIER | NA18979.hp1 NA19080.hp2 NA19082.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0064a0001c0002t0002 | a0001c0001t0001g0064 a0001c0001t0064g0050 a0001c0002t0002g0081 |
3 | 302 | 0.0099 | 10 | c.51+ others(27): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18393187 | T | TGACAGAG others(3): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(246): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(58): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(245): Show |
249 | 302 | 0.8245 | 10 | c.52- others(25): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18407109 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00639.hp2 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(8): Show | a0001c0001t0001g0031 a0001c0001t0001g0096 a0001c0001t0001g0196 others(19): Show |
22 | 302 | 0.0729 | 10 | c.171 others(27): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18464418 | T | TAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0135 | 1 | 302 | 0.0033 | 10 | c.172 others(29): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18481192 | C | CTATATAT others(3): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01361.hp2 HG02135.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(1): Show | a0001c0001t0001g0120 a0001c0001t0003g0052 a0001c0002t0002g0056 others(3): Show |
6 | 302 | 0.0199 | 10 | c.172 others(29): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18481230 | A | ATATATAT others(3): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02886.hp2 HG03225.hp1 |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0003a0001c0002t0002a0002c0003t0013 | a0001c0001t0003g0267 a0001c0002t0002g0270 a0002c0003t0013g0162 |
3 | 302 | 0.0099 | 10 | c.172 others(29): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18481230 | A | ATATATAT others(3): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0184 | 1 | 302 | 0.0033 | 10 | c.172 others(29): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18491819 | T | TAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0230 | 1 | 302 | 0.0033 | 10 | c.172 others(27): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18495591 | G | GTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0132 | 1 | 302 | 0.0033 | 10 | c.172 others(27): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18532676 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0184 | 1 | 302 | 0.0033 | 10 | c.893 others(27): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18536243 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG02040.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0297 a0001c0001t0012g0184 |
2 | 302 | 0.0066 | 10 | c.114 others(25): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB4_chr2_151827771_152104044 | 151861842 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG02165.hp2 HG02451.hp1 HG02486.hp2 others(17): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0031others(5): Show | a0001c0001t0002g0014 a0001c0001t0002g0018 a0001c0001t0002g0140 others(17): Show |
20 | 230 | 0.0870 | 10 | c.759 others(27): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 9/13 | chr2 | TogoVar | |||||||
CACNB4_chr2_151827771_152104044 | 151878550 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01123.hp2 HG01358.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0009others(1): Show | a0001c0001t0004g0192 a0001c0001t0005g0141 a0001c0001t0005g0229 others(5): Show |
8 | 230 | 0.0348 | 10 | c.391 others(27): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 4/13 | chr2 | TogoVar | |||||||
CACNB4_chr2_151827771_152104044 | 151957257 | C | CGTGTATG others(3): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00733.hp1 HG01123.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(4): Show | a0001c0001t0001g0029 a0001c0001t0001g0053 a0001c0001t0001g0054 others(9): Show |
12 | 230 | 0.0522 | 10 | c.148 others(29): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
CACNB4_chr2_151827771_152104044 | 151957257 | C | CGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 230 | 0.0044 | 10 | c.148 others(29): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
CACNB4_chr2_151827771_152104044 | 151983675 | T | TCTCACAC others(3): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00558.hp1 others(27): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(7): Show | a0001c0001t0001g0029 a0001c0001t0001g0035 a0001c0001t0001g0037 others(27): Show |
30 | 230 | 0.1304 | 10 | c.148 others(31): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
CACNB4_chr2_151827771_152104044 | 151998315 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0139 | 1 | 230 | 0.0044 | 10 | c.147 others(31): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
CACNB4_chr2_151827771_152104044 | 152018806 | A | AACACACA others(3): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00609.hp1 HG00642.hp1 others(54): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0025 a0001c0001t0001g0090 a0001c0001t0001g0104 others(54): Show |
57 | 230 | 0.2478 | 10 | c.147 others(29): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar |