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 | 54274215 | C | CATATATA others(7): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0084 | 1 | 103 | 0.0097 | 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 | a0001c0028t0001g0089 | 1 | 23 | 0.0435 | 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 | 47 | 0.0213 | 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 | a0001c0001t0001g0024 a0001c0001t0001g0097 a0001c0027t0001g0014 |
3 | 9 | 0.3333 | 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 | 9 | 0.1111 | 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 | a0001c0001t0001g0033 a0001c0001t0001g0046 a0001c0001t0001g0107 others(18): Show |
21 | 24 | 0.8750 | 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 | a0001c0010t0003g0057 a0001c0038t0010g0059 |
2 | 116 | 0.0172 | 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 | 72 | 0.0139 | 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 | 72 | 0.0139 | 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 | a0001c0001t0001g0061 a0001c0002t0001g0060 a0001c0026t0009g0073 |
3 | 74 | 0.0405 | 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 | 72 | 0.0139 | 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 | a0001c0001t0001g0083 a0001c0010t0001g0065 |
2 | 15 | 0.1333 | 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 | 35 | 0.0286 | 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 | 116 | 0.0086 | 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 | a0001c0027t0001g0014 a0001c0040t0001g0117 |
2 | 116 | 0.0172 | 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 | a0001c0001t0003g0058 a0001c0013t0001g0105 a0001c0024t0001g0069 others(1): Show |
4 | 48 | 0.0833 | 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 | a0001c0001t0001g0087 a0001c0001t0001g0097 a0001c0035t0001g0049 |
3 | 35 | 0.0857 | 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 | a0001c0001t0001g0035 a0001c0011t0001g0109 a0001c0040t0001g0117 |
3 | 19 | 0.1579 | 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 | a0001c0007t0001g0067 a0001c0032t0001g0048 |
2 | 18 | 0.1111 | 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 | 24 | 0.0417 | 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 | a0001c0001t0001g0035 a0001c0001t0001g0083 a0001c0002t0001g0004 others(2): Show |
5 | 18 | 0.2778 | 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 | 116 | 0.0086 | 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 | 13 | 0.0769 | 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 | a0001c0039t0001g0221 | 1 | 306 | 0.0033 | 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(298): Show |
a0001a0003a0004others(14): Show | a0001c0001a0001c0002a0001c0003others(49): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(94): Show | a0001c0001t0001g0039 a0001c0001t0001g0076 a0001c0001t0001g0083 others(298): Show |
301 | 316 | 0.9525 | 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 | a0001c0001t0001g0011 a0001c0001t0001g0027 a0001c0001t0001g0031 others(89): Show |
104 | 394 | 0.2640 | 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 | a0001c0001t0001g0032 a0001c0001t0001g0143 a0001c0001t0001g0190 others(21): Show |
24 | 108 | 0.2222 | 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 | a0001c0001t0020a0001c0002t0002 | a0001c0001t0020g0011 a0001c0002t0002g0140 a0001c0002t0002g0146 |
3 | 80 | 0.0375 | 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 | a0001c0001t0006a0001c0001t0039a0002c0003t0051 | a0001c0001t0006g0028 a0001c0001t0039g0021 a0002c0003t0051g0024 |
3 | 188 | 0.0160 | 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 | a0001c0001t0001a0001c0002t0043 | a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0002t0043g0137 |
3 | 57 | 0.0526 | 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 | 170 | 0.0059 | 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 | 164 | 0.0061 | 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 | a0001c0001t0001g0002 a0001c0001t0001g0068 a0001c0001t0001g0131 others(36): Show |
39 | 123 | 0.3171 | 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 | a0001c0001t0003g0094 a0001c0002t0002g0185 |
2 | 82 | 0.0244 | 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 | a0001c0001t0003a0001c0001t0036a0001c0001t0045others(1): Show | a0001c0001t0003g0144 a0001c0001t0036g0194 a0001c0001t0045g0101 others(1): Show |
4 | 34 | 0.1176 | 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 | a0001c0001t0013a0001c0002t0002 | a0001c0001t0013g0138 a0001c0002t0002g0112 |
2 | 162 | 0.0123 | 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 | a0001c0001t0031 | a0001c0001t0031g0120 | 1 | 162 | 0.0062 | 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 | 94 | 0.0106 | 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 | 187 | 0.0053 | 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 | a0001c0001t0003a0001c0001t0052a0001c0001t0055others(1): Show | a0001c0001t0003g0267 a0001c0001t0052g0177 a0001c0001t0055g0079 others(1): Show |
4 | 52 | 0.0769 | 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 | a0001c0001t0001a0001c0001t0013a0001c0002t0002others(1): Show | a0001c0001t0001g0130 a0001c0001t0013g0057 a0001c0002t0002g0290 others(1): Show |
4 | 242 | 0.0165 | 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 | a0001c0001t0058 | a0001c0001t0058g0231 | 1 | 249 | 0.0040 | 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 | 140 | 0.0071 | 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 | a0001c0002t0003a0001c0003t0006a0001c0003t0007 | a0001c0002t0003g0152 a0001c0002t0003g0158 a0001c0003t0006g0098 others(4): Show |
7 | 120 | 0.0583 | 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(13): Show | a0001c0001t0001g0052 a0001c0001t0001g0066 a0001c0001t0001g0077 others(38): Show |
41 | 53 | 0.7736 | 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 | 32 | 0.0313 | 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 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(9): Show | a0001c0001t0001g0027 a0001c0001t0001g0036 a0001c0001t0001g0039 others(20): Show |
23 | 54 | 0.4259 | 14 | c.148 others(33): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
CACNB4_chr2_151827771_152104044 | 151957257 | C | CGTGTGTG others(7): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 32 | 0.0313 | 14 | c.148 others(33): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
CACNB4_chr2_151827771_152104044 | 151983675 | T | TCTCACAC others(7): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02083.hp1 NA18944.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0003 | a0001c0001t0001g0052 a0001c0001t0001g0059 a0001c0001t0001g0060 others(3): Show |
6 | 93 | 0.0645 | 14 | c.148 others(35): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
CACNB4_chr2_151827771_152104044 | 152018806 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02572.hp1 HG02647.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0014others(1): Show | a0001c0001t0004g0001 a0001c0001t0005g0004 a0001c0001t0005g0081 others(6): Show |
9 | 66 | 0.1364 | 14 | c.147 others(33): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar |