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 | 54927292 | GTTTAA | G | intron_variant | MODIFIER | HG02109.hp1 HG02258.hp2 NA19043.hp2 |
a0001 | a0001c0001a0001c0007a0001c0012 | a0001c0001t0012a0001c0007t0001a0001c0012t0011 | a0001c0001t0012g0063a0001c0007t0001g0043a0001c0012t0011g0036 | 3 | 118 | 0.0254 | -5 | c.244 others(26): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 27/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54957440 | CACCCA | C | intron_variant | MODIFIER | HG02280.hp1 HG02622.hp1 HG03195.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0003t0001a0001c0004t0001 | a0001c0001t0001g0034a0001c0003t0001g0094a0001c0004t0001g0022others(1): Show | 4 | 118 | 0.0339 | -5 | c.245 others(26): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 27/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54998713 | TTTTTG | T | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00673.hp1 others(33): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0004others(21): Show | a0001c0001t0001g0016a0001c0001t0001g0029a0001c0001t0001g0030others(33): Show | 36 | 118 | 0.3051 | -5 | c.269 others(24): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 31/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 55037165 | CAAAAG | C | intron_variant | MODIFIER | HG01934.hp1 HG02630.hp2 HG02976.hp1 others(3): Show |
a0001 | a0001c0001a0001c0010a0001c0025others(1): Show | a0001c0001t0001a0001c0001t0012a0001c0010t0003others(3): Show | a0001c0001t0001g0034a0001c0001t0012g0063a0001c0010t0003g0057others(3): Show | 6 | 118 | 0.0509 | -5 | c.298 others(26): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 35/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 55044465 | CTAACT | C | intron_variant | MODIFIER | HG01884.hp2 HG03098.hp2 |
a0001 | a0001c0001a0001c0038 | a0001c0001t0001a0001c0038t0010 | a0001c0001t0001g0089a0001c0038t0010g0059 | 2 | 118 | 0.0170 | -5 | c.298 others(26): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 35/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D4_chr12_1786963_1923652 | 1899865 | AATCCT | A | intron_variant | MODIFIER | HG00140.hp1 HG01070.hp1 HG01256.hp2 others(26): Show |
a0001a0003a0006others(3): Show | a0001c0002a0001c0009a0001c0011others(10): Show | a0001c0002t0007a0001c0002t0009a0001c0009t0001others(21): Show | a0001c0002t0007g0008a0001c0002t0009g0009a0001c0009t0001g0053others(26): Show | 29 | 318 | 0.0912 | -5 | c.781 others(22): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 6/37 | chr12 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18174247 | CCCCTT | C | intron_variant | MODIFIER | HG00408.hp2 HG01069.hp1 HG01071.hp2 others(28): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0001g0002a0001c0001t0001g0025a0001c0001t0001g0196others(28): Show | 31 | 200 | 0.1550 | -5 | c.213 others(24): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18181562 | TTTTTA | T | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(69): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(23): Show | a0001c0001t0001g0058a0001c0001t0001g0066a0001c0001t0001g0099others(69): Show | 72 | 200 | 0.3600 | -5 | c.213 others(24): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18184649 | GTTTTT | G | intron_variant | MODIFIER | HG02109.hp1 HG02145.hp1 HG02717.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(6): Show | a0001c0001t0001g0025a0001c0001t0003g0026a0001c0001t0006g0023others(6): Show | 9 | 200 | 0.0450 | -5 | c.213 others(24): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18214626 | CAAAAA | C | intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG00741.hp2 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0114a0001c0001t0001g0119a0001c0001t0003g0064others(19): Show | 22 | 200 | 0.1100 | -5 | c.213 others(24): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18220238 | GAGAGA | G | intron_variant | MODIFIER | HG02970.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0172a0001c0001t0006g0174 | 2 | 200 | 0.0100 | -5 | c.213 others(24): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18312135 | CAAATT | C | intron_variant | MODIFIER | HG01071.hp1 HG02615.hp1 HG02818.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0007a0001c0001t0021a0001c0002t0002others(1): Show | a0001c0001t0007g0088a0001c0001t0021g0060a0001c0001t0021g0077others(2): Show | 5 | 200 | 0.0250 | -5 | c.214 others(24): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18315332 | AAAAAC | A | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp1 HG00738.hp2 others(77): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(36): Show | a0001c0001t0001g0031a0001c0001t0001g0032a0001c0001t0001g0034others(77): Show | 80 | 200 | 0.4000 | -5 | c.214 others(24): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18397720 | CAAAAA | C | intron_variant | MODIFIER | HG02559.hp2 HG03139.hp2 NA18941.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0016others(2): Show | a0001c0001t0001g0131a0001c0001t0004g0149a0001c0001t0016g0181others(2): Show | 5 | 200 | 0.0250 | -5 | c.214 others(22): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18408231 | CTTTTT | C | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp2 HG02559.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0008others(4): Show | a0001c0001t0004g0167a0001c0001t0006g0017a0001c0001t0008g0180others(6): Show | 9 | 200 | 0.0450 | -5 | c.333 others(22): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18411471 | TATAAA | T | intron_variant | MODIFIER | HG00423.hp1 HG01243.hp2 HG01943.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0003a0001c0001t0008a0001c0001t0055others(5): Show | a0001c0001t0003g0047a0001c0001t0003g0173a0001c0001t0008g0180others(9): Show | 12 | 200 | 0.0600 | -5 | c.333 others(22): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18438002 | ATTTTT | A | intron_variant | MODIFIER | HG01361.hp2 HG02145.hp2 HG02257.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0036a0001c0001t0001g0094a0001c0001t0001g0123others(9): Show | 12 | 200 | 0.0600 | -5 | c.333 others(24): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18472221 | CTTTTT | C | intron_variant | MODIFIER | HG00408.hp2 HG01069.hp1 HG01071.hp2 others(34): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0001g0025a0001c0001t0001g0036a0001c0001t0001g0037others(34): Show | 37 | 200 | 0.1850 | -5 | c.334 others(24): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18502689 | CAAAAA | C | intron_variant | MODIFIER | HG01169.hp1 HG01891.hp1 HG01891.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(2): Show | a0001c0001t0001g0031a0001c0001t0001g0032a0001c0001t0001g0099others(5): Show | 8 | 200 | 0.0400 | -5 | c.593 others(22): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18528049 | GAAATA | G | intron_variant | MODIFIER | HG02559.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0036a0001c0001t0054 | a0001c0001t0036g0176a0001c0001t0054g0162 | 2 | 200 | 0.0100 | -5 | c.105 others(22): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18408231 | CTTTTT | C | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp2 HG02559.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(4): Show | a0001c0001t0001g0002a0001c0001t0005g0090a0001c0001t0007g0003others(6): Show | 9 | 302 | 0.0298 | -5 | 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 | 18411471 | TATAAA | T | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG01243.hp2 others(22): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(8): Show | a0001c0001t0001g0095a0001c0001t0001g0223a0001c0001t0001g0284others(22): Show | 25 | 302 | 0.0828 | -5 | 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 | 18438002 | ATTTTT | A | intron_variant | MODIFIER | HG01361.hp1 HG02145.hp2 HG02257.hp1 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(7): Show | a0001c0001t0001g0010a0001c0001t0001g0061a0001c0001t0001g0073others(14): Show | 17 | 302 | 0.0563 | -5 | c.171 others(24): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18472221 | CTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG01069.hp1 others(51): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(19): Show | a0001c0001t0001g0015a0001c0001t0001g0021a0001c0001t0001g0022others(51): Show | 54 | 302 | 0.1788 | -5 | c.172 others(24): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18502689 | CAAAAA | C | intron_variant | MODIFIER | HG01169.hp2 HG01891.hp1 HG01891.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0001t0010a0001c0004t0008others(1): Show | a0001c0001t0001g0054a0001c0001t0001g0078a0001c0001t0001g0086others(5): Show | 8 | 302 | 0.0265 | -5 | c.431 others(22): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB3_chr12_48813496_48833941 | 48831429 | AGAAAG | A | downstream_gene_variant | MODIFIER | HG01346.hp2 HG02055.hp2 HG02451.hp2 others(12): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0004a0001c0002t0001g0013 | 15 | 364 | 0.0412 | -5 | c.*35 others(16): Show |
CACNB3 | ENSG00000167535.8 | transcript | ENST00000301050.7 | protein_coding | 2489 | chr12 | TogoVar | ||||||
CACNB4_chr2_151827771_152104044 | 151876870 | CTATAT | C | intron_variant | MODIFIER | HG00735.hp2 HG01257.hp2 HG02055.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0011a0001c0003t0007a0001c0003t0008 | a0001c0001t0011g0030a0001c0003t0007g0098a0001c0003t0008g0099others(4): Show | 7 | 230 | 0.0304 | -5 | c.391 others(20): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 4/13 | chr2 | TogoVar | ||||||
CACNB4_chr2_151827771_152104044 | 151894912 | GAAGAA | G | intron_variant | MODIFIER | NA19065.hp2 NA19084.hp2 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0115a0001c0001t0010g0122 | 2 | 230 | 0.0087 | -5 | c.148 others(24): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar | ||||||
CACNB4_chr2_151827771_152104044 | 151900987 | CTTTCT | C | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG00733.hp2 others(35): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0025a0001c0001t0001g0165a0001c0001t0001g0181others(35): Show | 38 | 230 | 0.1652 | -5 | c.148 others(24): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar | ||||||
CACNB4_chr2_151827771_152104044 | 151924440 | TATATA | T | intron_variant | MODIFIER | HG00639.hp2 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0038 | a0001c0001t0006g0085a0001c0001t0038g0143 | 2 | 230 | 0.0087 | -5 | c.148 others(24): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar | ||||||
CACNG3_chr16_24251335_24367412 | 24252666 | ATTTTT | A | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02486.hp1 HG02717.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0003t0001 | a0001c0001t0001g0210a0001c0001t0001g0234a0001c0001t0001g0235others(4): Show | 7 | 366 | 0.0191 | -5 | c.-40 others(16): Show |
CACNG3 | ENSG00000006116.4 | transcript | ENST00000005284.4 | protein_coding | 3668 | chr16 | TogoVar | ||||||
CACNG3_chr16_24251335_24367412 | 24257369 | GAGAGA | G | intron_variant | MODIFIER | NA19054.hp1 NA19070.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0353a0001c0001t0001g0354a0001c0001t0002g0352 | 3 | 366 | 0.0082 | -5 | c.211 others(20): Show |
CACNG3 | ENSG00000006116.4 | transcript | ENST00000005284.4 | protein_coding | 1/3 | chr16 | TogoVar | ||||||
CACNG3_chr16_24251335_24367412 | 24302635 | TTTTTG | T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp2 others(94): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0012others(94): Show | 97 | 366 | 0.2650 | -5 | c.212 others(24): Show |
CACNG3 | ENSG00000006116.4 | transcript | ENST00000005284.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CACNG3_chr16_24251335_24367412 | 24359864 | AAAAAC | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00642.hp2 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0019a0001c0001t0001g0037a0001c0001t0001g0061others(29): Show | 32 | 366 | 0.0874 | -5 | c.437 others(22): Show |
CACNG3 | ENSG00000006116.4 | transcript | ENST00000005284.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CACNG4_chr17_66959707_67038398 | 66990647 | CTTATT | C | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp2 HG02486.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0203a0001c0001t0001g0219a0001c0001t0002g0099others(10): Show | 14 | 352 | 0.0398 | -5 | c.220 others(24): Show |
CACNG4 | ENSG00000075461.6 | transcript | ENST00000262138.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CACNG6_chr19_53986637_54017666 | 54004334 | TTTGTG | T | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG02622.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0006a0001c0001t0011a0001c0001t0029others(2): Show | a0001c0001t0006g0039a0001c0001t0011g0040a0001c0001t0029g0227others(3): Show | 6 | 430 | 0.0140 | -5 | c.544 others(22): Show |
CACNG6 | ENSG00000130433.8 | transcript | ENST00000252729.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CACNG6_chr19_53986637_54017666 | 54005751 | TTAAAA | T | intron_variant | MODIFIER | HG00323.hp1 HG00733.hp2 HG01081.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0002g0070a0001c0001t0003g0004a0001c0001t0003g0027others(24): Show | 28 | 430 | 0.0651 | -5 | c.544 others(22): Show |
CACNG6 | ENSG00000130433.8 | transcript | ENST00000252729.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CACNG6_chr19_53986637_54017666 | 54006513 | CTTTCT | C | intron_variant | MODIFIER | HG00738.hp1 HG01175.hp1 HG02559.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(2): Show | a0001c0001t0001g0366a0001c0001t0006g0079a0001c0001t0007g0244others(4): Show | 7 | 430 | 0.0163 | -5 | c.545 others(22): Show |
CACNG6 | ENSG00000130433.8 | transcript | ENST00000252729.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CACNG6_chr19_53986637_54017666 | 54006841 | TTTTTA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(330): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0003a0001c0001t0001g0010a0001c0001t0001g0011others(316): Show | 333 | 430 | 0.7744 | -5 | c.545 others(22): Show |
CACNG6 | ENSG00000130433.8 | transcript | ENST00000252729.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CACNG6_chr19_53986637_54017666 | 54015391 | CTTCCT | C | downstream_gene_variant | MODIFIER | HG00733.hp2 HG02056.hp2 HG02074.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(4): Show | a0001c0001t0001g0010a0001c0001t0001g0403a0001c0001t0005g0230others(6): Show | 9 | 430 | 0.0209 | -5 | c.*32 others(16): Show |
CACNG6 | ENSG00000130433.8 | transcript | ENST00000252729.7 | protein_coding | 2726 | chr19 | TogoVar | ||||||
CACNG7_chr19_53904278_53948950 | 53929117 | AAAAAC | A | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01106.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007 | a0001c0001t0001g0085a0001c0001t0001g0125a0001c0001t0001g0128others(12): Show | 15 | 364 | 0.0412 | -5 | c.425 others(24): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CACNG7_chr19_53904278_53948950 | 53937576 | TCCCTC | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(324): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(316): Show | 327 | 364 | 0.8984 | -5 | c.425 others(22): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CACNG7_chr19_53904278_53948950 | 53938947 | TCAAAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(326): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(317): Show | 329 | 364 | 0.9039 | -5 | c.425 others(22): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CACNG8_chr19_53957937_53995215 | 53978997 | AGGGGT | A | intron_variant | MODIFIER | HG00673.hp1 HG02040.hp2 NA18951.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0035a0001c0001t0036a0001c0001t0142 | a0001c0001t0035g0027a0001c0001t0036g0082a0001c0001t0036g0083others(1): Show | 5 | 394 | 0.0127 | -5 | c.367 others(20): Show |
CACNG8 | ENSG00000142408.7 | transcript | ENST00000270458.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CACUL1_chr10_118671411_118759970 | 118721458 | AATTTT | A | intron_variant | MODIFIER | HG01106.hp2 HG01123.hp1 HG01175.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0307a0001c0001t0002g0308a0001c0001t0002g0309others(2): Show | 5 | 388 | 0.0129 | -5 | c.597 others(22): Show |
CACUL1 | ENSG00000151893.15 | transcript | ENST00000369151.8 | protein_coding | 3/8 | chr10 | TogoVar | ||||||
CACYBP_chr1_174994947_175017027 | 175002999 | TTGAAC | T | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp1 HG00741.hp2 others(28): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0005a0001c0001t0011others(3): Show | a0001c0001t0002g0005a0001c0001t0005g0005a0001c0001t0005g0021others(9): Show | 31 | 416 | 0.0745 | -5 | c.16- others(20): Show |
CACYBP | ENSG00000116161.18 | transcript | ENST00000367679.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CADM1_chr11_115164236_115509415 | 115169206 | ATTTTT | A | downstream_gene_variant | MODIFIER | HG00735.hp1 HG01099.hp2 HG01256.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(6): Show | a0001c0001t0001g0009a0001c0001t0001g0153a0001c0001t0003g0014others(21): Show | 24 | 164 | 0.1463 | -5 | c.*72 others(16): Show |
CADM1 | ENSG00000182985.19 | transcript | ENST00000331581.11 | protein_coding | 29 | chr11 | TogoVar | ||||||
CADM1_chr11_115164236_115509415 | 115174054 | CTTTGT | C | 3_prime_UTR_variant | MODIFIER | HG02647.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0049a0001c0001t0050 | a0001c0001t0049g0008a0001c0001t0050g0113 | 2 | 164 | 0.0122 | -5 | c.*24 others(16): Show |
CADM1 | ENSG00000182985.19 | transcript | ENST00000331581.11 | protein_coding | 12/12 | 2415 | chr11 | TogoVar | |||||
CADM1_chr11_115164236_115509415 | 115259290 | CTTTTT | C | intron_variant | MODIFIER | HG00735.hp2 HG00741.hp2 HG01099.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0093a0001c0001t0002g0053a0001c0001t0002g0077others(19): Show | 22 | 164 | 0.1342 | -5 | c.125 others(24): Show |
CADM1 | ENSG00000182985.19 | transcript | ENST00000331581.11 | protein_coding | 1/11 | chr11 | TogoVar | ||||||
CADM1_chr11_115164236_115509415 | 115260670 | ATTTAT | A | intron_variant | MODIFIER | HG02145.hp1 HG02809.hp2 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0051 | a0001c0001t0019g0012a0001c0001t0019g0028a0001c0001t0051g0027 | 3 | 164 | 0.0183 | -5 | c.125 others(24): Show |
CADM1 | ENSG00000182985.19 | transcript | ENST00000331581.11 | protein_coding | 1/11 | chr11 | TogoVar |