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 | 54149928 | T | TCTCTCTC others(7): Show |
intron_variant | MODIFIER | HG03225.hp1 HG03471.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0083a0001c0006t0001g0017 | 2 | 118 | 0.0170 | 14 | c.204 others(33): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54171136 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0040 | 1 | 118 | 0.0085 | 14 | c.204 others(33): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54249558 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02109.hp1 HG02109.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(6): Show | a0001c0001t0001g0034a0001c0002t0001g0020a0001c0002t0004g0001others(7): Show | 10 | 118 | 0.0848 | 14 | c.205 others(33): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54274215 | C | CATATATA others(7): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0084 | 1 | 118 | 0.0085 | 14 | c.205 others(33): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54338467 | C | CTCTGTGT others(7): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0028 | a0001c0028t0001 | a0001c0028t0001g0090 | 1 | 118 | 0.0085 | 14 | c.321 others(33): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54412610 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0034 | a0001c0034t0001 | a0001c0034t0001g0086 | 1 | 118 | 0.0085 | 14 | c.381 others(33): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54445555 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG03239.hp2 HG03486.hp2 HG04204.hp1 |
a0001 | a0001c0001a0001c0027 | a0001c0001t0001a0001c0027t0001 | a0001c0001t0001g0024a0001c0001t0001g0097a0001c0027t0001g0014 | 3 | 118 | 0.0254 | 14 | c.382 others(33): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54451229 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0052 | 1 | 118 | 0.0085 | 14 | c.382 others(33): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54475809 | T | TTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00423.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(13): Show | a0001c0001t0001g0033a0001c0001t0001g0046a0001c0001t0001g0107others(18): Show | 21 | 118 | 0.1780 | 14 | c.382 others(33): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54515129 | C | CAAAGATG others(7): Show |
intron_variant | MODIFIER | HG02630.hp2 HG03098.hp2 |
a0001 | a0001c0010a0001c0038 | a0001c0010t0003a0001c0038t0010 | a0001c0010t0003g0057a0001c0038t0010g0059 | 2 | 118 | 0.0170 | 14 | c.544 others(33): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 5/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54618352 | C | CATACATA others(7): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0035 | a0001c0035t0001 | a0001c0035t0001g0049 | 1 | 118 | 0.0085 | 14 | c.964 others(31): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 9/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54618374 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 118 | 0.0085 | 14 | c.964 others(31): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 9/37 | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54618374 | T | TATATATG others(7): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02717.hp1 HG03098.hp1 |
a0001 | a0001c0001a0001c0002a0001c0026 | a0001c0001t0001a0001c0002t0001a0001c0026t0009 | a0001c0001t0001g0061a0001c0002t0001g0060a0001c0026t0009g0073 | 3 | 118 | 0.0254 | 14 | c.964 others(31): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 9/37 | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54618374 | T | TATGCACA others(7): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0084 | 1 | 118 | 0.0085 | 14 | c.964 others(31): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 9/37 | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54618375 | G | GCACACAC others(7): Show |
intron_variant | MODIFIER | HG01169.hp2 HG03471.hp1 |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0010t0001 | a0001c0001t0001g0083a0001c0010t0001g0065 | 2 | 118 | 0.0170 | 14 | c.964 others(31): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 9/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54631203 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 118 | 0.0085 | 14 | c.105 others(33): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 10/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54763864 | T | TGTATATA others(7): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0044 | 1 | 118 | 0.0085 | 14 | c.124 others(31): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 12/37 | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54809307 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG01258.hp2 HG03239.hp2 |
a0001 | a0001c0027a0001c0040 | a0001c0027t0001a0001c0040t0001 | a0001c0027t0001g0014a0001c0040t0001g0117 | 2 | 118 | 0.0170 | 14 | c.138 others(33): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 13/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54809311 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02922.hp2 HG02965.hp2 others(1): Show |
a0001 | a0001c0001a0001c0013a0001c0024others(1): Show | a0001c0001t0003a0001c0013t0001a0001c0024t0001others(1): Show | a0001c0001t0003g0058a0001c0013t0001g0105a0001c0024t0001g0069others(1): Show | 4 | 118 | 0.0339 | 14 | c.138 others(33): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 13/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54832011 | T | TCATACAC others(7): Show |
intron_variant | MODIFIER | HG03579.hp1 HG04204.hp1 NA19043.hp1 |
a0001 | a0001c0001a0001c0035 | a0001c0001t0001a0001c0035t0001 | a0001c0001t0001g0087a0001c0001t0001g0097a0001c0035t0001g0049 | 3 | 118 | 0.0254 | 14 | c.139 others(33): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54859972 | G | GCGCGCAC others(7): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01258.hp2 HG02970.hp2 |
a0001 | a0001c0001a0001c0011a0001c0040 | a0001c0001t0001a0001c0011t0001a0001c0040t0001 | a0001c0001t0001g0035a0001c0011t0001g0109a0001c0040t0001g0117 | 3 | 118 | 0.0254 | 14 | c.162 others(35): 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(7): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02922.hp1 |
a0001 | a0001c0007a0001c0032 | a0001c0007t0001a0001c0032t0001 | a0001c0007t0001g0067a0001c0032t0001g0048 | 2 | 118 | 0.0170 | 14 | c.162 others(35): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 17/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54911351 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0021 | a0001c0021t0002 | a0001c0021t0002g0023 | 1 | 118 | 0.0085 | 14 | c.244 others(35): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 27/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 55008888 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01123.hp1 HG02615.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0035a0001c0001t0001g0083a0001c0002t0001g0004others(2): Show | 5 | 118 | 0.0424 | 14 | c.282 others(31): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 33/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 55021633 | A | ATATATAT others(7): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 118 | 0.0085 | 14 | c.298 others(33): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 35/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 55038864 | C | CTATATAT others(7): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0002 | a0002c0020 | a0002c0020t0001 | a0002c0020t0001g0021 | 1 | 118 | 0.0085 | 14 | c.298 others(35): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 35/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D4_chr12_1786963_1923652 | 1820246 | C | CGGCGGGG others(7): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0039 | a0001c0039t0001 | a0001c0039t0001g0222 | 1 | 318 | 0.0031 | 14 | c.255 others(33): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 26/37 | chr12 | TogoVar | ||||||
CACNA2D4_chr12_1786963_1923652 | 1892101 | A | AGGTCTTC others(7): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(299): Show |
a0001a0003a0004others(14): Show | a0001c0001a0001c0002a0001c0003others(49): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(94): Show | a0001c0001t0001g0039a0001c0001t0001g0078a0001c0001t0001g0081others(299): Show | 302 | 318 | 0.9497 | 14 | c.782 others(31): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 6/37 | chr12 | TogoVar | ||||||
CACNB1_chr17_39168453_39202669 | 39188074 | C | CACTTGAG others(7): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(101): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0011a0001c0001t0001g0027a0001c0001t0001g0031others(89): Show | 104 | 396 | 0.2626 | 14 | c.292 others(29): Show |
CACNB1 | ENSG00000067191.17 | transcript | ENST00000394303.8 | protein_coding | 3/13 | chr17 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18150855 | C | CTTTTTTT others(7): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG00408.hp2 HG00609.hp2 HG00738.hp1 others(21): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0032a0001c0001t0001g0143a0001c0001t0001g0190others(21): Show | 24 | 200 | 0.1200 | 14 | c.121 others(26): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18171521 | G | GAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG01361.hp1 HG02970.hp1 HG03195.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0018a0001c0002t0002 | a0001c0001t0018g0011a0001c0002t0002g0140a0001c0002t0002g0146 | 3 | 200 | 0.0150 | 14 | c.213 others(33): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18171543 | A | AAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02145.hp1 HG02896.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0006a0001c0001t0040a0002c0003t0052 | a0001c0001t0006g0028a0001c0001t0040g0021a0002c0003t0052g0024 | 3 | 200 | 0.0150 | 14 | c.213 others(33): 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(7): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01074.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0044 | a0001c0001t0001g0196a0001c0001t0001g0197a0001c0002t0044g0138 | 3 | 200 | 0.0150 | 14 | c.213 others(33): 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(7): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0039 | 1 | 200 | 0.0050 | 14 | c.213 others(33): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18220213 | A | AGAGAGAG others(7): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0184 | 1 | 200 | 0.0050 | 14 | c.213 others(33): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18288676 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00738.hp2 HG01069.hp2 others(36): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(22): Show | a0001c0001t0001g0002a0001c0001t0001g0067a0001c0001t0001g0131others(36): Show | 39 | 200 | 0.1950 | 14 | c.214 others(35): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18307983 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG01169.hp2 HG03041.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0002 | a0001c0001t0003g0095a0001c0002t0002g0185 | 2 | 200 | 0.0100 | 14 | c.214 others(33): 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(7): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02293.hp1 NA18973.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0037a0001c0001t0046others(1): Show | a0001c0001t0003g0144a0001c0001t0037g0194a0001c0001t0046g0102others(1): Show | 4 | 200 | 0.0200 | 14 | c.333 others(31): 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(7): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01358.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0002t0002 | a0001c0001t0012g0135a0001c0002t0002g0112 | 2 | 200 | 0.0100 | 14 | c.334 others(33): 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(7): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0120 | 1 | 200 | 0.0050 | 14 | c.334 others(33): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18536243 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0173 | 1 | 200 | 0.0050 | 14 | c.130 others(29): 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(7): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0094 | 1 | 302 | 0.0033 | 14 | c.51+ others(31): 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(7): Show |
intron_variant | MODIFIER | HG01109.hp2 NA18973.hp1 NA18973.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0056a0001c0001t0059others(1): Show | a0001c0001t0003g0267a0001c0001t0056g0177a0001c0001t0059g0079others(1): Show | 4 | 302 | 0.0133 | 14 | c.171 others(31): 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(7): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01358.hp2 HG03654.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0012a0001c0002t0002others(1): Show | a0001c0001t0001g0130a0001c0001t0012g0057a0001c0002t0002g0290others(1): Show | 4 | 302 | 0.0133 | 14 | c.172 others(33): 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(7): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0062 | a0001c0001t0062g0231 | 1 | 302 | 0.0033 | 14 | c.172 others(33): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18536243 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0298 | 1 | 302 | 0.0033 | 14 | c.114 others(29): 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(7): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01257.hp2 HG01978.hp2 others(4): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0003a0001c0003t0007a0001c0003t0008 | a0001c0002t0003g0152a0001c0002t0003g0159a0001c0003t0007g0098others(4): Show | 7 | 230 | 0.0304 | 14 | c.759 others(31): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 9/13 | chr2 | TogoVar | ||||||
CACNB4_chr2_151827771_152104044 | 151878550 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00733.hp2 HG01192.hp1 others(38): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(14): Show | a0001c0001t0001g0052a0001c0001t0001g0066a0001c0001t0001g0130others(38): Show | 41 | 230 | 0.1783 | 14 | c.391 others(31): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 4/13 | chr2 | TogoVar | ||||||
CACNB4_chr2_151827771_152104044 | 151957257 | C | CGTGTATG others(7): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 230 | 0.0044 | 14 | c.148 others(33): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar | ||||||
CACNB4_chr2_151827771_152104044 | 151957257 | C | CGTGTATG others(7): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00642.hp1 HG00738.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(9): Show | a0001c0001t0001g0027a0001c0001t0001g0037a0001c0001t0001g0039others(20): Show | 23 | 230 | 0.1000 | 14 | c.148 others(33): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar |