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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CACNB2_chr10_18135424_18548557 | 18152728 | AAAAACAA others(5): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01891.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0048 | a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0007g0188 others(2): Show |
5 | 200 | 0.0250 | -12 | 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 | 18199973 | GTGTGTGT others(5): Show |
G | intron_variant | MODIFIER | HG03225.hp1 HG03453.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0002t0002 | a0001c0001t0012g0003 a0001c0002t0002g0179 |
2 | 200 | 0.0100 | -12 | c.213 others(31): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18220110 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG02886.hp1 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0002a0002c0003t0013 | a0001c0002t0002g0059 a0002c0003t0013g0109 |
2 | 200 | 0.0100 | -12 | c.213 others(31): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18220144 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02559.hp1 HG03704.hp1 |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0002t0002a0001c0005t0022 | a0001c0001t0001g0048 a0001c0002t0002g0075 a0001c0005t0022g0186 |
3 | 200 | 0.0150 | -12 | c.213 others(31): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18220189 | ATATATGT others(5): Show |
A | intron_variant | MODIFIER | HG03139.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0054 | a0001c0001t0016g0181 a0001c0001t0054g0162 |
2 | 200 | 0.0100 | -12 | c.213 others(31): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18220226 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0081 | 1 | 200 | 0.0050 | -12 | c.213 others(31): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18220228 | TATATAGA others(5): Show |
T | intron_variant | MODIFIER | HG02723.hp2 HG02922.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0019a0001c0002t0043 | a0001c0001t0019g0124 a0001c0002t0043g0101 |
2 | 200 | 0.0100 | -12 | c.213 others(31): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18220230 | TATAGAGA others(5): Show |
T | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0178 | 1 | 200 | 0.0050 | -12 | c.213 others(31): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18220232 | TAGAGAGA others(5): Show |
T | intron_variant | MODIFIER | HG00642.hp2 | a0002 | a0002c0003 | a0002c0003t0013 | a0002c0003t0013g0109 | 1 | 200 | 0.0050 | -12 | c.213 others(31): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18269248 | TTATCATC others(5): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0031 a0001c0001t0003g0030 |
2 | 200 | 0.0100 | -12 | c.213 others(33): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | chr10 | TogoVar | |||||||
CACNB2_chr10_18135424_18548557 | 18286517 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00741.hp1 others(25): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(10): Show | a0001c0001t0001g0008 a0001c0001t0001g0032 a0001c0001t0001g0045 others(25): Show |
28 | 200 | 0.1400 | -12 | 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 | 18315499 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0091 | 1 | 200 | 0.0050 | -12 | 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 | 18335784 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0120 | 1 | 200 | 0.0050 | -12 | 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 | 18347344 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00609.hp1 others(31): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(15): Show | a0001c0001t0001g0037 a0001c0001t0001g0048 a0001c0001t0001g0066 others(31): Show |
34 | 200 | 0.1700 | -12 | 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 | GCTCTCTC others(5): Show |
G | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0088 | 1 | 200 | 0.0050 | -12 | 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 | 18358541 | TCTCTCTC others(5): Show |
T | intron_variant | MODIFIER | HG01361.hp2 HG01993.hp1 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0031 | a0001c0001t0001g0190 a0001c0001t0004g0165 a0001c0001t0031g0056 |
3 | 200 | 0.0150 | -12 | 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 | 18398680 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0032 a0001c0001t0001g0171 a0001c0001t0003g0115 others(10): Show |
13 | 200 | 0.0650 | -12 | 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 | 18407109 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG01071.hp1 HG01891.hp2 HG02148.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0021others(2): Show | a0001c0001t0001g0032 a0001c0001t0003g0115 a0001c0001t0021g0060 others(3): Show |
6 | 200 | 0.0300 | -12 | c.333 others(29): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18414483 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG01074.hp2 HG01243.hp1 HG01243.hp2 others(30): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0025 a0001c0001t0001g0036 a0001c0001t0001g0045 others(30): Show |
33 | 200 | 0.1650 | -12 | 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 | 18438002 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02970.hp2 HG03471.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0006a0001c0001t0008a0002c0003t0053 | a0001c0001t0006g0134 a0001c0001t0006g0174 a0001c0001t0008g0180 others(1): Show |
4 | 200 | 0.0200 | -12 | 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 | 18472221 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG01361.hp2 HG01516.hp1 |
a0001 | a0001c0001 | a0001c0001t0028a0001c0001t0031 | a0001c0001t0028g0013 a0001c0001t0031g0056 |
2 | 200 | 0.0100 | -12 | c.334 others(31): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18481226 | ATATATTT others(5): Show |
A | intron_variant | MODIFIER | HG01074.hp1 NA18981.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0044 | a0001c0002t0002g0043 a0001c0002t0044g0138 |
2 | 200 | 0.0100 | -12 | c.334 others(31): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18481228 | ATATTTTT others(5): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02717.hp2 HG03209.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0002a0001c0002t0017 | a0001c0001t0003g0087 a0001c0002t0002g0184 a0001c0002t0017g0148 |
3 | 200 | 0.0150 | -12 | c.334 others(31): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18495545 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG01258.hp1 HG02895.hp1 HG02965.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0006a0001c0002t0002others(1): Show | a0001c0001t0003g0026 a0001c0001t0003g0172 a0001c0001t0006g0005 others(2): Show |
5 | 200 | 0.0250 | -12 | c.334 others(29): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18335784 | AACACACA others(5): Show |
A | upstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0062 | a0001c0001t0062g0231 | 1 | 302 | 0.0033 | -12 | c.-51 others(23): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 4924 | chr10 | TogoVar | |||||||
CACNB2_chr10_18335709_18548557 | 18347344 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00609.hp2 others(44): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(15): Show | a0001c0001t0001g0007 a0001c0001t0001g0021 a0001c0001t0001g0022 others(44): Show |
47 | 302 | 0.1556 | -12 | 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 | 18358497 | GCTCTCTC others(5): Show |
G | intron_variant | MODIFIER | HG03209.hp1 NA18965.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0002t0002 | a0001c0001t0010g0028 a0001c0002t0002g0112 |
2 | 302 | 0.0066 | -12 | c.51+ others(29): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18358541 | TCTCTCTC others(5): Show |
T | intron_variant | MODIFIER | HG01361.hp1 HG01993.hp2 NA20752.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0057a0001c0001t0059 | a0001c0001t0001g0078 a0001c0001t0001g0143 a0001c0001t0057g0088 others(1): Show |
4 | 302 | 0.0133 | -12 | c.51+ others(29): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18398680 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0001g0031 a0001c0001t0001g0121 a0001c0001t0001g0196 others(20): Show |
23 | 302 | 0.0762 | -12 | c.52- others(27): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18407109 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01891.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0015others(4): Show | a0001c0001t0001g0229 a0001c0001t0003g0269 a0001c0001t0015g0019 others(5): Show |
8 | 302 | 0.0265 | -12 | c.171 others(29): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18414483 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00735.hp2 HG01074.hp1 others(52): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(15): Show | a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0034 others(52): Show |
55 | 302 | 0.1821 | -12 | 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 | 18433873 | TTTGTTGT others(5): Show |
T | intron_variant | MODIFIER | HG01515.hp2 | a0002 | a0002c0003 | a0002c0003t0009 | a0002c0003t0009g0258 | 1 | 302 | 0.0033 | -12 | 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 | 18438002 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02970.hp1 HG03471.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0005a0001c0001t0007a0002c0003t0067 | a0001c0001t0005g0065 a0001c0001t0005g0103 a0001c0001t0007g0003 others(1): Show |
4 | 302 | 0.0133 | -12 | 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 | 18442974 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0227 | 1 | 302 | 0.0033 | -12 | 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 | 18472221 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG01361.hp1 HG03834.hp1 NA20905.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0057a0001c0001t0059a0001c0002t0002 | a0001c0001t0057g0088 a0001c0001t0059g0079 a0001c0002t0002g0084 |
3 | 302 | 0.0099 | -12 | c.172 others(31): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18481226 | ATATATTT others(5): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG01074.hp2 NA18981.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0006a0001c0002t0053 | a0001c0002t0002g0046 a0001c0002t0006g0106 a0001c0002t0053g0155 |
3 | 302 | 0.0099 | -12 | c.172 others(31): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18481228 | ATATTTTT others(5): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG01975.hp2 HG02717.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0002a0001c0002t0006 | a0001c0001t0003g0274 a0001c0002t0002g0009 a0001c0002t0002g0101 others(3): Show |
6 | 302 | 0.0199 | -12 | c.172 others(31): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18491819 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp2 | a0002 | a0002c0003 | a0002c0003t0035 | a0002c0003t0035g0275 | 1 | 302 | 0.0033 | -12 | 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 | 18495545 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG01256.hp2 HG01258.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0129 a0001c0001t0003g0235 a0001c0001t0005g0188 others(4): Show |
7 | 302 | 0.0232 | -12 | c.172 others(29): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB4_chr2_151827771_152104044 | 151831283 | GTAGCTTC others(5): Show |
G | downstream_gene_variant | MODIFIER | HG02698.hp1 HG03688.hp2 HG03831.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0017a0001c0001t0029 | a0001c0001t0004g0125 a0001c0001t0004g0164 a0001c0001t0017g0196 others(1): Show |
4 | 230 | 0.0174 | -12 | c.*78 others(23): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 1487 | chr2 | TogoVar | |||||||
CACNB4_chr2_151827771_152104044 | 151868771 | GACACACA others(5): Show |
G | intron_variant | MODIFIER | HG02015.hp1 NA19086.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0180 a0001c0002t0002g0187 |
2 | 230 | 0.0087 | -12 | c.758 others(27): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 9/13 | chr2 | TogoVar | |||||||
CACNB4_chr2_151827771_152104044 | 151895094 | CCCCACAC others(5): Show |
C | intron_variant | MODIFIER | HG01496.hp1 HG02559.hp2 HG02647.hp1 others(9): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(4): Show | a0001c0001t0001g0054 a0001c0001t0001g0090 a0001c0001t0001g0194 others(9): Show |
12 | 230 | 0.0522 | -12 | c.148 others(31): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
CACNB4_chr2_151827771_152104044 | 151921138 | AAAATAAA others(5): Show |
A | intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 | 1 | 230 | 0.0044 | -12 | c.148 others(31): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
CACNB4_chr2_151827771_152104044 | 152029510 | AAGAAAAG others(5): Show |
A | intron_variant | MODIFIER | HG01361.hp1 HG02135.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0023 | a0001c0001t0002g0156 a0001c0002t0023g0176 |
2 | 230 | 0.0087 | -12 | c.147 others(31): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
CACNB4_chr2_151827771_152104044 | 152035576 | TCTCTCTC others(5): Show |
T | intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0120 | 1 | 230 | 0.0044 | -12 | c.147 others(31): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
CACNB4_chr2_151827771_152104044 | 152062013 | AAATAATA others(5): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02145.hp1 HG02280.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0002g0140 a0001c0001t0004g0223 a0001c0001t0005g0092 others(20): Show |
23 | 230 | 0.1000 | -12 | c.147 others(31): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
CACNG1_chr17_67039554_67061797 | 67058976 | CTTTTTTC others(5): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(262): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(73): Show |
265 | 428 | 0.6192 | -12 | c.*27 others(23): Show |
CACNG1 | ENSG00000108878.5 | transcript | ENST00000226021.5 | protein_coding | 2180 | chr17 | TogoVar | |||||||
CACNG2_chr22_36555857_36708752 | 36627165 | TCCCATCT others(5): Show |
T | intron_variant | MODIFIER | HG02572.hp2 HG03130.hp2 HG03195.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0056a0001c0001t0065others(1): Show | a0001c0001t0018g0036 a0001c0001t0056g0105 a0001c0001t0065g0117 others(1): Show |
4 | 214 | 0.0187 | -12 | c.212 others(31): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 1/3 | chr22 | TogoVar | |||||||
CACNG2_chr22_36555857_36708752 | 36643474 | GTCTATCT others(5): Show |
G | intron_variant | MODIFIER | HG01169.hp2 HG02257.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013 | a0001c0001t0002g0042 a0001c0001t0013g0180 a0001c0001t0013g0181 |
3 | 214 | 0.0140 | -12 | c.212 others(31): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 1/3 | chr22 | TogoVar | |||||||
CACNG2_chr22_36555857_36708752 | 36676932 | TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0052 | 1 | 214 | 0.0047 | -12 | c.211 others(31): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 1/3 | chr22 | TogoVar |