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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CACNB2_chr10_18135424_18548557 | 18492620 | C | CAAA | intron_variant | MODIFIER | HG00738.hp2 HG01074.hp1 HG01109.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0094a0001c0001t0001g0127a0001c0001t0003g0087others(21): Show | 24 | 200 | 0.1200 | 3 | c.334 others(20): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18496185 | C | CAAA | intron_variant | MODIFIER | HG00738.hp2 HG01109.hp2 HG01192.hp2 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0094a0001c0001t0001g0099a0001c0001t0001g0127others(24): Show | 27 | 200 | 0.1350 | 3 | c.334 others(20): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18499637 | A | AAAG | intron_variant | MODIFIER | HG01243.hp1 HG01981.hp2 HG02258.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(5): Show | a0001c0001t0001g0002a0001c0001t0001g0048a0001c0001t0004g0161others(8): Show | 11 | 200 | 0.0550 | 3 | c.456 others(20): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18499805 | T | TACA | intron_variant | MODIFIER | HG01071.hp1 HG01257.hp2 HG01258.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007a0001c0001t0021others(2): Show | a0001c0001t0006g0005a0001c0001t0006g0134a0001c0001t0006g0174others(5): Show | 8 | 200 | 0.0400 | 3 | c.457 others(20): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18513101 | C | CTTT | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp2 others(125): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(36): Show | a0001c0001t0001g0002a0001c0001t0001g0008a0001c0001t0001g0010others(125): Show | 128 | 200 | 0.6400 | 3 | c.671 others(20): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18525029 | T | TAAA | intron_variant | MODIFIER | HG01433.hp2 HG01496.hp1 HG01516.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0004a0001c0004t0010a0002c0003t0014others(2): Show | a0001c0001t0004g0167a0001c0004t0010g0122a0002c0003t0014g0078others(3): Show | 6 | 200 | 0.0300 | 3 | c.945 others(20): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18531848 | G | GTTC | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(165): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(52): Show | a0001c0001t0001g0002a0001c0001t0001g0008a0001c0001t0001g0010others(165): Show | 168 | 200 | 0.8400 | 3 | c.105 others(22): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18532676 | C | CAAA | intron_variant | MODIFIER | HG00642.hp2 HG01496.hp1 HG02615.hp1 others(3): Show |
a0002 | a0002c0003 | a0002c0003t0013a0002c0003t0014a0002c0003t0024 | a0002c0003t0013g0022a0002c0003t0013g0109a0002c0003t0013g0175others(3): Show | 6 | 200 | 0.0300 | 3 | c.105 others(22): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18540293 | A | ATGT | 3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00609.hp2 others(39): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0017a0001c0002t0020others(8): Show | a0001c0002t0002g0004a0001c0002t0002g0035a0001c0002t0002g0041others(39): Show | 42 | 200 | 0.2100 | 3 | c.*57 others(12): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 14/14 | 574 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||
CACNB2_chr10_18335709_18548557 | 18347344 | A | ATTT | intron_variant | MODIFIER | HG00609.hp1 HG00639.hp2 HG01257.hp1 others(35): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(9): Show | a0001c0001t0001g0014a0001c0001t0001g0073a0001c0001t0001g0074others(35): Show | 38 | 302 | 0.1258 | 3 | c.51+ others(18): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18386399 | A | ATTT | intron_variant | MODIFIER | HG00408.hp2 HG00609.hp2 HG00639.hp1 others(42): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(16): Show | a0001c0001t0001g0007a0001c0001t0001g0010a0001c0001t0001g0021others(42): Show | 45 | 302 | 0.1490 | 3 | c.52- others(20): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18391925 | C | CAAA | intron_variant | MODIFIER | HG01981.hp1 HG02056.hp2 NA18975.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0020a0001c0002t0004 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0010others(4): Show | 7 | 302 | 0.0232 | 3 | c.52- others(18): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18402391 | G | GAAA | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG00735.hp2 others(58): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(17): Show | a0001c0001t0001g0024a0001c0001t0001g0027a0001c0001t0001g0033others(58): Show | 61 | 302 | 0.2020 | 3 | c.171 others(18): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18433873 | T | TTTG | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02818.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0010a0001c0002t0002a0001c0002t0038others(1): Show | a0001c0001t0010g0287a0001c0001t0010g0289a0001c0002t0002g0030others(3): Show | 6 | 302 | 0.0199 | 3 | c.171 others(22): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18438183 | A | ATTT | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG00735.hp1 others(65): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(18): Show | a0001c0001t0001g0002a0001c0001t0001g0008a0001c0001t0001g0014others(64): Show | 68 | 302 | 0.2252 | 3 | c.171 others(22): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18455039 | T | TAAA | intron_variant | MODIFIER | HG00438.hp2 HG00642.hp1 HG01069.hp2 others(23): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(6): Show | a0001c0001t0001g0008a0001c0001t0001g0024a0001c0001t0001g0078others(22): Show | 26 | 302 | 0.0861 | 3 | c.172 others(22): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18461764 | C | CTTT | intron_variant | MODIFIER | HG00735.hp1 HG01361.hp1 HG01884.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0024others(4): Show | a0001c0001t0001g0284a0001c0001t0003g0206a0001c0001t0024g0117others(6): Show | 9 | 302 | 0.0298 | 3 | c.172 others(22): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18481231 | T | TATA | intron_variant | MODIFIER | HG00558.hp1 HG01169.hp2 HG02280.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0024a0001c0001t0066others(1): Show | a0001c0001t0001g0054a0001c0001t0001g0058a0001c0001t0001g0129others(5): Show | 8 | 302 | 0.0265 | 3 | c.172 others(22): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18491819 | T | TAAA | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp2 HG00639.hp2 others(89): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(26): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0010others(89): Show | 92 | 302 | 0.3046 | 3 | c.172 others(20): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18492620 | C | CAAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00558.hp2 others(42): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0062others(12): Show | a0001c0001t0001g0033a0001c0001t0001g0035a0001c0001t0001g0047others(42): Show | 45 | 302 | 0.1490 | 3 | c.172 others(20): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18496185 | C | CAAA | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp2 HG00735.hp1 others(48): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(13): Show | a0001c0001t0001g0033a0001c0001t0001g0035a0001c0001t0001g0047others(48): Show | 51 | 302 | 0.1689 | 3 | c.172 others(20): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18499637 | A | AAAG | intron_variant | MODIFIER | HG01243.hp1 HG01981.hp2 HG02258.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(3): Show | a0001c0001t0001g0027a0001c0001t0001g0110a0001c0001t0001g0245others(8): Show | 11 | 302 | 0.0364 | 3 | c.294 others(20): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18499805 | T | TACA | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01257.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0015a0001c0001t0022others(5): Show | a0001c0001t0005g0065a0001c0001t0005g0103a0001c0001t0005g0188others(10): Show | 13 | 302 | 0.0431 | 3 | c.295 others(20): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18513101 | C | CTTT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(207): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(42): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(206): Show | 210 | 302 | 0.6954 | 3 | c.509 others(20): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18525029 | T | TAAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG01099.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0034a0001c0002t0048others(5): Show | a0001c0001t0001g0002a0001c0001t0034g0017a0001c0002t0048g0285others(9): Show | 12 | 302 | 0.0397 | 3 | c.783 others(20): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18531848 | G | GTTC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(261): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(63): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(260): Show | 264 | 302 | 0.8742 | 3 | c.893 others(20): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18532676 | C | CAAA | intron_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG01496.hp1 others(4): Show |
a0002 | a0002c0003 | a0002c0003t0009a0002c0003t0013a0002c0003t0023others(1): Show | a0002c0003t0009g0233a0002c0003t0013g0029a0002c0003t0013g0162others(4): Show | 7 | 302 | 0.0232 | 3 | c.893 others(20): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18540293 | A | ATGT | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(63): Show |
a0001a0003a0004 | a0001c0002a0003c0007a0004c0006 | a0001c0002t0002a0001c0002t0006a0001c0002t0043others(11): Show | a0001c0002t0002g0009a0001c0002t0002g0016a0001c0002t0002g0030others(63): Show | 66 | 302 | 0.2185 | 3 | c.*57 others(12): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 13/13 | 574 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||
CACNB4_chr2_151827771_152104044 | 151842320 | C | CTTT | intron_variant | MODIFIER | HG01192.hp2 HG01257.hp1 HG01258.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0010a0001c0001t0021others(4): Show | a0001c0001t0002g0214a0001c0001t0010g0121a0001c0001t0021g0150others(7): Show | 10 | 230 | 0.0435 | 3 | c.111 others(20): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 12/13 | chr2 | TogoVar | ||||||
CACNB4_chr2_151827771_152104044 | 151856151 | G | GTTT | intron_variant | MODIFIER | HG00735.hp2 HG02559.hp2 HG02683.hp1 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0007a0001c0003t0008a0001c0003t0016 | a0001c0003t0007g0098a0001c0003t0008g0099a0001c0003t0008g0101others(2): Show | 5 | 230 | 0.0217 | 3 | c.869 others(18): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 10/13 | chr2 | TogoVar | ||||||
CACNB4_chr2_151827771_152104044 | 151881879 | C | CTTT | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00558.hp1 others(42): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(10): Show | a0001c0001t0001g0067a0001c0001t0001g0133a0001c0001t0001g0163others(42): Show | 45 | 230 | 0.1957 | 3 | c.268 others(18): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 3/13 | chr2 | TogoVar | ||||||
CACNB4_chr2_151827771_152104044 | 151913765 | C | CAAA | intron_variant | MODIFIER | HG02135.hp1 HG02451.hp2 HG02559.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0002g0156a0001c0001t0004g0075a0001c0001t0005g0004others(9): Show | 12 | 230 | 0.0522 | 3 | c.148 others(22): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar | ||||||
CACNB4_chr2_151827771_152104044 | 151917834 | C | CAAA | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00558.hp2 others(40): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(13): Show | a0001c0001t0001g0059a0001c0001t0001g0133a0001c0001t0001g0163others(40): Show | 43 | 230 | 0.1870 | 3 | c.148 others(22): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar | ||||||
CACNB4_chr2_151827771_152104044 | 151919850 | A | AAAC | intron_variant | MODIFIER | HG02717.hp1 HG02896.hp2 HG06807.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0008a0001c0003t0019 | a0001c0003t0008g0089a0001c0003t0008g0142a0001c0003t0008g0219others(1): Show | 4 | 230 | 0.0174 | 3 | c.148 others(22): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar | ||||||
CACNB4_chr2_151827771_152104044 | 151920318 | C | CTTT | intron_variant | MODIFIER | HG02738.hp2 HG02818.hp1 HG02965.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0025a0001c0001t0002g0014a0001c0001t0002g0140others(5): Show | 8 | 230 | 0.0348 | 3 | c.148 others(22): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar | ||||||
CACNB4_chr2_151827771_152104044 | 151924073 | C | CTTT | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00558.hp1 others(34): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(9): Show | a0001c0001t0001g0026a0001c0001t0001g0027a0001c0001t0001g0035others(34): Show | 37 | 230 | 0.1609 | 3 | c.148 others(22): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar | ||||||
CACNB4_chr2_151827771_152104044 | 151954850 | C | CTTT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(43): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(11): Show | a0001c0001t0001g0026a0001c0001t0001g0027a0001c0001t0001g0029others(43): Show | 46 | 230 | 0.2000 | 3 | c.148 others(22): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar | ||||||
CACNB4_chr2_151827771_152104044 | 151964046 | C | CCAA | intron_variant | MODIFIER | HG00735.hp2 HG01192.hp1 HG01257.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0005a0001c0003t0007a0001c0003t0008others(1): Show | a0001c0001t0005g0036a0001c0003t0007g0098a0001c0003t0008g0099others(4): Show | 7 | 230 | 0.0304 | 3 | c.148 others(22): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar | ||||||
CACNB4_chr2_151827771_152104044 | 151974815 | C | CAAA | intron_variant | MODIFIER | HG02027.hp2 HG02451.hp1 HG03041.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0012others(2): Show | a0001c0001t0001g0165a0001c0001t0007g0209a0001c0001t0012g0167others(2): Show | 5 | 230 | 0.0217 | 3 | c.148 others(22): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar | ||||||
CACNB4_chr2_151827771_152104044 | 152001526 | T | TAAA | intron_variant | MODIFIER | HG01884.hp1 HG02280.hp2 HG02451.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(5): Show | a0001c0001t0002g0140a0001c0001t0005g0229a0001c0001t0007g0111others(10): Show | 13 | 230 | 0.0565 | 3 | c.147 others(22): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar | ||||||
CACNB4_chr2_151827771_152104044 | 152027852 | C | CAAA | intron_variant | MODIFIER | HG00639.hp2 HG03195.hp1 HG03516.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0002g0139a0001c0001t0004g0189a0001c0001t0006g0085others(2): Show | 5 | 230 | 0.0217 | 3 | c.147 others(22): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar | ||||||
CACNB4_chr2_151827771_152104044 | 152062013 | A | AAAT | intron_variant | MODIFIER | HG00140.hp2 HG00609.hp2 HG00733.hp2 others(39): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0025a0001c0001t0001g0035a0001c0001t0001g0050others(39): Show | 42 | 230 | 0.1826 | 3 | c.147 others(22): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar | ||||||
CACNB4_chr2_151827771_152104044 | 152103261 | C | CAAA | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00642.hp2 HG01109.hp1 others(73): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(22): Show | a0001c0001t0001g0067a0001c0001t0001g0068a0001c0001t0001g0158others(73): Show | 76 | 230 | 0.3304 | 3 | c.-42 others(14): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 4218 | chr2 | TogoVar | ||||||
CACNG1_chr17_67039554_67061797 | 67045524 | C | CTTT | intron_variant | MODIFIER | HG02809.hp2 HG02965.hp2 HG03209.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0008a0003c0003t0001 | a0001c0001t0001g0033a0001c0001t0001g0060a0001c0001t0001g0069others(3): Show | 7 | 428 | 0.0164 | 3 | c.229 others(18): Show |
CACNG1 | ENSG00000108878.5 | transcript | ENST00000226021.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CACNG1_chr17_67039554_67061797 | 67060112 | T | TTTA | downstream_gene_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02109.hp2 others(24): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0006a0001c0004t0005 | a0001c0001t0001g0011a0001c0001t0001g0033a0001c0001t0001g0065others(12): Show | 27 | 428 | 0.0631 | 3 | c.*38 others(14): Show |
CACNG1 | ENSG00000108878.5 | transcript | ENST00000226021.5 | protein_coding | 3316 | chr17 | TogoVar | ||||||
CACNG2_chr22_36555857_36708752 | 36573328 | A | AATT | intron_variant | MODIFIER | HG02055.hp2 HG02258.hp2 HG02280.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0021a0001c0001t0041others(10): Show | a0001c0001t0015g0007a0001c0001t0015g0043a0001c0001t0021g0114others(12): Show | 15 | 214 | 0.0701 | 3 | c.296 others(20): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 2/3 | chr22 | TogoVar | ||||||
CACNG2_chr22_36555857_36708752 | 36583439 | A | AAAG | intron_variant | MODIFIER | HG01496.hp1 HG03130.hp2 HG03453.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0023a0001c0001t0048others(3): Show | a0001c0001t0015g0043a0001c0001t0023g0131a0001c0001t0048g0013others(3): Show | 6 | 214 | 0.0280 | 3 | c.295 others(20): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 2/3 | chr22 | TogoVar | ||||||
CACNG2_chr22_36555857_36708752 | 36631740 | T | TTTA | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG00639.hp2 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0001a0001c0001t0001g0023a0001c0001t0001g0024others(37): Show | 41 | 214 | 0.1916 | 3 | c.212 others(22): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 1/3 | chr22 | TogoVar | ||||||
CACNG2_chr22_36555857_36708752 | 36647596 | C | CAAA | intron_variant | MODIFIER | HG00741.hp2 HG01192.hp2 HG01516.hp2 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(28): Show | a0001c0001t0002g0004a0001c0001t0002g0005a0001c0001t0002g0035others(36): Show | 39 | 214 | 0.1822 | 3 | c.211 others(22): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 1/3 | chr22 | TogoVar | ||||||
CACNG2_chr22_36555857_36708752 | 36651224 | C | CTTT | intron_variant | MODIFIER | HG02280.hp2 HG02615.hp1 HG03041.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0015others(2): Show | a0001c0001t0002g0074a0001c0001t0009g0111a0001c0001t0015g0007others(2): Show | 5 | 214 | 0.0234 | 3 | c.211 others(22): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 1/3 | chr22 | TogoVar |