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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CACNA1D_chr3_53489611_53818733 | 53672758 | CTGTGTGT others(11): Show |
C | intron_variant | MODIFIER | HG02132.hp2 HG02257.hp2 HG02559.hp2 others(2): Show |
a0001 | a0001c0002a0001c0004a0001c0012 | a0001c0002t0005a0001c0002t0010a0001c0002t0015others(2): Show | a0001c0002t0005g0098a0001c0002t0010g0195a0001c0002t0015g0117others(2): Show | 5 | 210 | 0.0238 | -18 | c.111 others(35): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 7/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA1D_chr3_53489611_53818733 | 53691731 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp2 HG02572.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0067a0001c0002t0018a0001c0002t0030others(2): Show | a0001c0001t0067g0045a0001c0002t0018g0029a0001c0002t0030g0196others(2): Show | 5 | 210 | 0.0238 | -18 | c.122 others(39): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 8/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA1D_chr3_53489611_53818733 | 53713494 | CTGTGTGT others(11): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG02647.hp2 HG02886.hp1 others(3): Show |
a0001 | a0001c0002a0001c0025 | a0001c0002t0028a0001c0002t0063a0001c0002t0064others(3): Show | a0001c0002t0028g0188a0001c0002t0063g0191a0001c0002t0064g0042others(3): Show | 6 | 210 | 0.0286 | -18 | c.139 others(37): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 9/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA1E_chr1_181478517_181813084 | 181718611 | AACACACA others(11): Show |
A | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0066 | a0001c0001t0066g0070 | 1 | 206 | 0.0049 | -18 | c.163 others(35): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 12/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CACNA1H_chr16_1148106_1226768 | 1165960 | CATCTTTT others(11): Show |
C | intron_variant | MODIFIER | HG02486.hp2 | a0003 | a0003c0060 | a0003c0060t0039 | a0003c0060t0039g0317 | 1 | 338 | 0.0030 | -18 | c.299 others(37): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1181943 | CGCCCCCT others(11): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02280.hp2 HG03516.hp2 |
a0003a0029 | a0003c0022a0029c0065 | a0003c0022t0020a0003c0022t0028a0029c0065t0007 | a0003c0022t0020g0025a0003c0022t0028g0026a0029c0065t0007g0202 | 3 | 338 | 0.0089 | -18 | c.300 others(37): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CACNA1H_chr16_1148106_1226768 | 1189397 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG01261.hp2 others(17): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0002c0007others(12): Show | a0001c0001t0002a0002c0002t0001a0002c0002t0002others(16): Show | a0001c0001t0002g0127a0002c0002t0001g0284a0002c0002t0002g0086others(17): Show | 20 | 338 | 0.0592 | -18 | c.300 others(35): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CACNA1H_chr16_1148106_1226768 | 1200147 | CTGATCAC others(11): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG01243.hp1 HG01261.hp2 others(30): Show |
a0002a0003a0008others(9): Show | a0002c0007a0002c0011a0002c0025others(17): Show | a0002c0007t0001a0002c0007t0002a0002c0007t0003others(24): Show | a0002c0007t0001g0029a0002c0007t0001g0030a0002c0007t0002g0237others(30): Show | 33 | 338 | 0.0976 | -18 | c.804 others(31): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CACNA1I_chr22_39565753_39694735 | 39616770 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | HG01099.hp1 | a0006 | a0006c0012 | a0006c0012t0004 | a0006c0012t0004g0031 | 1 | 236 | 0.0042 | -18 | c.483 others(35): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CACNA2D1_chr7_81941444_82448777 | 82000771 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0095 | 1 | 144 | 0.0069 | -18 | c.159 others(37): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 18/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82111394 | GTATATAT others(11): Show |
G | intron_variant | MODIFIER | HG02572.hp1 HG03139.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0003 | a0001c0001t0001g0087a0001c0007t0003g0075 | 2 | 144 | 0.0139 | -18 | c.526 others(35): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 6/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82192460 | TTGTGTGT others(11): Show |
T | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01891.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(4): Show | a0001c0001t0004g0044a0001c0001t0004g0056a0001c0001t0004g0074others(9): Show | 12 | 144 | 0.0833 | -18 | c.295 others(37): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82332524 | AAGAAAGA others(11): Show |
A | intron_variant | MODIFIER | HG00621.hp2 HG01123.hp1 HG01261.hp1 others(18): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0049a0001c0001t0002g0100a0001c0001t0002g0133others(18): Show | 21 | 144 | 0.1458 | -18 | c.294 others(35): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54141080 | TGTGTGTG others(11): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG01192.hp1 HG02080.hp1 |
a0001 | a0001c0003a0001c0018a0001c0042 | a0001c0003t0001a0001c0018t0001a0001c0042t0001 | a0001c0003t0001g0101a0001c0018t0001g0076a0001c0042t0001g0078 | 3 | 118 | 0.0254 | -18 | c.204 others(37): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54149914 | TCTCTCTC others(11): Show |
T | intron_variant | MODIFIER | HG03041.hp2 NA19043.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0012a0001c0005t0001 | a0001c0001t0012g0063a0001c0005t0001g0005 | 2 | 118 | 0.0170 | -18 | c.204 others(37): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54149918 | TCTCTCTC others(11): Show |
T | intron_variant | MODIFIER | HG03471.hp2 NA18522.hp2 |
a0001 | a0001c0005a0001c0043 | a0001c0005t0001a0001c0043t0001 | a0001c0005t0001g0052a0001c0043t0001g0051 | 2 | 118 | 0.0170 | -18 | c.204 others(37): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54546698 | GCACACAC others(11): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(45): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(21): Show | a0001c0001t0001g0024a0001c0001t0001g0029a0001c0001t0001g0030others(45): Show | 48 | 118 | 0.4068 | -18 | c.545 others(37): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 5/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54661838 | ATGTGTGT others(11): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(37): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(17): Show | a0001c0001t0001g0024a0001c0001t0001g0029a0001c0001t0001g0033others(37): Show | 40 | 118 | 0.3390 | -18 | c.116 others(39): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54667101 | TTCTCATG others(11): Show |
T | intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0028 | a0001c0028t0001 | a0001c0028t0001g0090 | 1 | 118 | 0.0085 | -18 | c.116 others(39): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54736102 | TATATATG others(11): Show |
T | intron_variant | MODIFIER | HG02572.hp2 HG02717.hp2 HG02965.hp1 others(4): Show |
a0001 | a0001c0002a0001c0005a0001c0009others(3): Show | a0001c0002t0001a0001c0005t0001a0001c0009t0001others(3): Show | a0001c0002t0001g0070a0001c0005t0001g0005a0001c0005t0001g0088others(4): Show | 7 | 118 | 0.0593 | -18 | c.116 others(39): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54871043 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG02280.hp2 HG02965.hp1 HG03195.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(2): Show | a0001c0001t0001g0104a0001c0002t0001g0070a0001c0005t0001g0088others(2): Show | 5 | 118 | 0.0424 | -18 | 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 | 54874620 | TTATTTAT others(11): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00673.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(13): Show | a0001c0001t0001g0006a0001c0001t0001g0010a0001c0001t0001g0046others(19): Show | 22 | 118 | 0.1864 | -18 | c.171 others(37): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 18/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 55038864 | CTATATAT others(11): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02622.hp2 HG03098.hp2 |
a0001 | a0001c0001a0001c0038 | a0001c0001t0001a0001c0038t0010 | a0001c0001t0001g0061a0001c0001t0001g0089a0001c0038t0010g0059 | 3 | 118 | 0.0254 | -18 | c.298 others(39): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 35/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18152722 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | HG02723.hp1 HG03195.hp2 HG03486.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0008a0001c0002t0002 | a0001c0001t0006g0005a0001c0001t0008g0007a0001c0002t0002g0004 | 3 | 200 | 0.0150 | -18 | c.213 others(35): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18220110 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG01069.hp1 HG01071.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0032a0001c0001t0001g0037a0001c0001t0001g0049others(16): Show | 19 | 200 | 0.0950 | -18 | c.213 others(37): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18472221 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0183 | 1 | 200 | 0.0050 | -18 | c.334 others(37): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18481216 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0038 | 1 | 200 | 0.0050 | -18 | c.334 others(37): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18536257 | TTTTTTTT others(11): Show |
T | intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0150 | 1 | 200 | 0.0050 | -18 | c.130 others(33): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 12/13 | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18335784 | AACACACA others(11): Show |
A | upstream_gene_variant | MODIFIER | NA18979.hp2 NA19067.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0065 | a0001c0001t0001g0130a0001c0001t0065g0172 | 2 | 302 | 0.0066 | -18 | c.-51 others(29): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 4924 | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18472221 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0230 | 1 | 302 | 0.0033 | -18 | c.172 others(37): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18481214 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG01975.hp1 NA18944.hp2 NA18953.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0015a0001c0002t0004a0001c0002t0046 | a0001c0001t0015g0111a0001c0002t0004g0094a0001c0002t0004g0191others(2): Show | 5 | 302 | 0.0166 | -18 | c.172 others(37): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18481216 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | NA18960.hp2 NA18985.hp1 |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0042 | a0001c0002t0004g0099a0001c0002t0042g0212 | 2 | 302 | 0.0066 | -18 | c.172 others(37): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18487600 | CGAGGTGG others(11): Show |
C | intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0004 | a0001c0004t0027 | a0001c0004t0027g0043 | 1 | 302 | 0.0033 | -18 | c.172 others(37): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18495545 | CTGTGTGT others(11): Show |
C | intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 302 | 0.0033 | -18 | c.172 others(35): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18536257 | TTTTTTTT others(11): Show |
T | intron_variant | MODIFIER | NA18975.hp1 NA19002.hp1 NA19057.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034a0001c0001t0001g0047a0001c0001t0001g0118 | 3 | 302 | 0.0099 | -18 | c.114 others(33): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 11/12 | chr10 | TogoVar | ||||||
CACNB4_chr2_151827771_152104044 | 151863807 | ATTTGCTA others(11): Show |
A | intron_variant | MODIFIER | HG03139.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0030 | a0001c0001t0006g0072a0001c0001t0030g0074 | 2 | 230 | 0.0087 | -18 | c.759 others(35): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 9/13 | chr2 | TogoVar | ||||||
CACNB4_chr2_151827771_152104044 | 151895094 | CCCCACAC others(11): Show |
C | intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 230 | 0.0044 | -18 | c.148 others(37): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar | ||||||
CACNB4_chr2_151827771_152104044 | 151957257 | CGTGTGTG others(11): Show |
C | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0003 | a0001c0003t0016 | a0001c0003t0016g0088 | 1 | 230 | 0.0044 | -18 | c.148 others(37): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar | ||||||
CACNG1_chr17_67039554_67061797 | 67049558 | TATTCTAC others(11): Show |
T | intron_variant | MODIFIER | HG00733.hp2 HG01496.hp2 HG01943.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0008a0001c0001t0001g0056a0002c0002t0001g0008 | 13 | 428 | 0.0304 | -18 | c.230 others(35): Show |
CACNG1 | ENSG00000108878.5 | transcript | ENST00000226021.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CACNG2_chr22_36555857_36708752 | 36645536 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(136): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(79): Show | a0001c0001t0001g0001a0001c0001t0001g0023a0001c0001t0001g0024others(135): Show | 139 | 214 | 0.6495 | -18 | c.211 others(37): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 1/3 | chr22 | TogoVar | ||||||
CACNG3_chr16_24251335_24367412 | 24257368 | GGAGAGAG others(11): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00673.hp2 HG00733.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0255a0001c0001t0001g0256a0001c0001t0001g0257others(11): Show | 14 | 366 | 0.0383 | -18 | c.211 others(33): Show |
CACNG3 | ENSG00000006116.4 | transcript | ENST00000005284.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CACNG3_chr16_24251335_24367412 | 24305320 | ATGTGTGT others(11): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00741.hp1 HG01109.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0007a0001c0001t0001g0063a0001c0001t0001g0079others(12): Show | 15 | 366 | 0.0410 | -18 | c.212 others(37): Show |
CACNG3 | ENSG00000006116.4 | transcript | ENST00000005284.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CACNG3_chr16_24251335_24367412 | 24327441 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 366 | 0.0027 | -18 | c.212 others(37): Show |
CACNG3 | ENSG00000006116.4 | transcript | ENST00000005284.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CACNG4_chr17_66959707_67038398 | 66965194 | ACGCGCGC others(11): Show |
A | intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227 | 1 | 352 | 0.0028 | -18 | c.220 others(31): Show |
CACNG4 | ENSG00000075461.6 | transcript | ENST00000262138.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CACNG6_chr19_53986637_54017666 | 53992916 | GCGGCGGG others(11): Show |
G | conservative_inframe_deletion | MODERATE | HG02602.hp2 | a0008 | a0008c0007 | a0008c0007t0001 | a0008c0007t0001g0321 | 1 | 430 | 0.0023 | -18 | c.46_ others(23): Show |
p.Gly others(11): Show |
CACNG6 | ENSG00000130433.8 | transcript | ENST00000252729.7 | protein_coding | 1/4 | 1287/2501 | 46/783 | 16/260 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
CACNG6_chr19_53986637_54017666 | 53993508 | TCTGTGCC others(11): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00673.hp2 HG00735.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0002g0066a0001c0001t0002g0067a0001c0001t0002g0068others(22): Show | 28 | 430 | 0.0651 | -18 | c.331 others(33): Show |
CACNG6 | ENSG00000130433.8 | transcript | ENST00000252729.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CACNG6_chr19_53986637_54017666 | 54004335 | TTGTGTGT others(11): Show |
T | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0185 | 1 | 430 | 0.0023 | -18 | c.544 others(35): Show |
CACNG6 | ENSG00000130433.8 | transcript | ENST00000252729.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CACNG8_chr19_53957937_53995215 | 53962801 | TTATTTTT others(11): Show |
T | upstream_gene_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0196 | 1 | 394 | 0.0025 | -18 | c.-34 others(27): Show |
CACNG8 | ENSG00000142408.7 | transcript | ENST00000270458.4 | protein_coding | 135 | chr19 | TogoVar | ||||||
CACNG8_chr19_53957937_53995215 | 53993508 | TCTGTGCC others(11): Show |
T | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00673.hp1 HG01081.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0016a0001c0001t0026others(11): Show | a0001c0001t0013g0025a0001c0001t0013g0167a0001c0001t0013g0168others(20): Show | 26 | 394 | 0.0660 | -18 | c.*10 others(31): Show |
CACNG8 | ENSG00000142408.7 | transcript | ENST00000270458.4 | protein_coding | 3294 | chr19 | TogoVar | ||||||
CADM1_chr11_115164236_115509415 | 115284104 | CTCTCTCT others(11): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01099.hp2 HG02895.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0014others(2): Show | a0001c0001t0003g0085a0001c0001t0007g0065a0001c0001t0014g0049others(2): Show | 5 | 164 | 0.0305 | -18 | c.125 others(37): Show |
CADM1 | ENSG00000182985.19 | transcript | ENST00000331581.11 | protein_coding | 1/11 | chr11 | TogoVar |