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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CACNA1A_chr19_13201442_13511479 | 13413895 | A | AAGAAAAA others(13): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0020 | a0020c0078 | a0020c0078t0019 | a0020c0078t0019g0151 | 1 | 218 | 0.0046 | 20 | c.539 others(39): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13415743 | T | TAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01192.hp1 HG01257.hp2 others(2): Show |
a0001a0002a0006 | a0001c0004a0001c0122a0002c0002others(2): Show | a0001c0004t0011a0001c0122t0001a0002c0002t0015others(2): Show | a0001c0004t0011g0157a0001c0122t0001g0174a0002c0002t0015g0160others(2): Show | 5 | 218 | 0.0229 | 20 | c.539 others(39): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13432103 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0005 | a0001c0005t0008 | a0001c0005t0008g0204 | 1 | 218 | 0.0046 | 20 | c.539 others(39): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13433460 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02683.hp2 NA18939.hp1 others(8): Show |
a0001a0002a0007others(6): Show | a0001c0034a0002c0002a0002c0003others(8): Show | a0001c0034t0001a0002c0002t0002a0002c0003t0003others(8): Show | a0001c0034t0001g0072a0002c0002t0002g0020a0002c0003t0003g0127others(8): Show | 11 | 218 | 0.0505 | 20 | c.539 others(39): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13466877 | A | ATTATTTA others(13): Show |
intron_variant | MODIFIER | HG01169.hp2 HG02055.hp2 HG02572.hp2 others(3): Show |
a0002a0003a0014others(1): Show | a0002c0003a0002c0010a0003c0013others(3): Show | a0002c0003t0007a0002c0010t0003a0003c0013t0007others(3): Show | a0002c0003t0007g0086a0002c0010t0003g0023a0003c0013t0007g0041others(3): Show | 6 | 218 | 0.0275 | 20 | c.294 others(39): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13510018 | A | AAAGGAAG others(13): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 HG00735.hp2 HG01255.hp2 others(19): Show |
a0001a0002a0004others(9): Show | a0001c0001a0001c0004a0001c0006others(15): Show | a0001c0001t0001a0001c0001t0005a0001c0004t0015others(18): Show | a0001c0001t0001g0182a0001c0001t0005g0168a0001c0004t0015g0140others(19): Show | 22 | 218 | 0.1009 | 20 | c.-38 others(31): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3540 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13510035 | A | AAGGAAGG others(13): Show |
upstream_gene_variant | MODIFIER | HG01081.hp2 HG01099.hp2 HG01981.hp2 others(6): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0126a0003c0110others(6): Show | a0001c0001t0004a0001c0126t0022a0003c0110t0006others(6): Show | a0001c0001t0004g0017a0001c0126t0022g0006a0003c0110t0006g0137others(6): Show | 9 | 218 | 0.0413 | 20 | c.-38 others(31): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3557 | chr19 | TogoVar | ||||||
CACNA1B_chr9_137872782_138129619 | 137954856 | T | TTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01261.hp2 HG01891.hp2 others(15): Show |
a0001a0007a0019 | a0001c0002a0001c0003a0001c0007others(8): Show | a0001c0002t0030a0001c0003t0005a0001c0003t0010others(12): Show | a0001c0002t0030g0120a0001c0003t0005g0016a0001c0003t0005g0021others(15): Show | 18 | 248 | 0.0726 | 20 | c.107 others(37): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CACNA1B_chr9_137872782_138129619 | 137954879 | T | TGTGTGTG others(13): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0009 | a0001c0009t0003 | a0001c0009t0003g0096 | 1 | 248 | 0.0040 | 20 | c.107 others(37): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CACNA1B_chr9_137872782_138129619 | 138094442 | T | TAAAAAAA others(13): Show |
intron_variant | MODIFIER | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
a0008 | a0008c0019 | a0008c0019t0017a0008c0019t0025 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | 248 | 0.0121 | 20 | c.509 others(39): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CACNA1B_chr9_137872782_138129619 | 138094457 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0106 | 1 | 248 | 0.0040 | 20 | c.509 others(39): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2071140 | T | TCCTCCCT others(13): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0011 | a0001c0011t0030 | a0001c0011t0030g0039 | 1 | 104 | 0.0096 | 20 | c.49+ others(37): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2071172 | C | CCCTCCCT others(13): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0005 | a0005c0030 | a0005c0030t0001 | a0005c0030t0001g0077 | 1 | 104 | 0.0096 | 20 | c.49+ others(37): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2071172 | C | CCCTCCCT others(13): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01071.hp2 HG01106.hp1 others(9): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0002a0001c0001t0013a0001c0002t0001others(6): Show | a0001c0001t0002g0001a0001c0001t0013g0024a0001c0002t0001g0016others(9): Show | 12 | 104 | 0.1154 | 20 | c.49+ others(37): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2117270 | C | CAAATAAA others(13): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02809.hp1 HG03098.hp1 |
a0001 | a0001c0015a0001c0017a0001c0018 | a0001c0015t0034a0001c0017t0006a0001c0018t0042 | a0001c0015t0034g0075a0001c0017t0006g0006a0001c0018t0042g0083 | 3 | 104 | 0.0289 | 20 | c.371 others(37): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 2/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2177587 | C | CCCTCCCT others(13): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0085 | 1 | 104 | 0.0096 | 20 | c.477 others(39): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2186998 | T | TCCTGTCC others(13): Show |
intron_variant | MODIFIER | HG02145.hp1 HG03041.hp1 HG03209.hp1 others(3): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0026others(2): Show | a0001c0001t0004a0001c0001t0021a0001c0004t0004others(3): Show | a0001c0001t0004g0038a0001c0001t0021g0055a0001c0004t0004g0086others(3): Show | 6 | 104 | 0.0577 | 20 | c.477 others(39): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2378779 | G | GTCCTTCC others(13): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0024 | 1 | 104 | 0.0096 | 20 | c.478 others(39): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2378817 | C | CCTTCCTT others(13): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0021 | a0001c0021t0027 | a0001c0021t0027g0087 | 1 | 104 | 0.0096 | 20 | c.478 others(39): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2380030 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01358.hp1 HG02055.hp1 NA18966.hp2 others(1): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0003a0001c0003t0009a0001c0004t0036others(1): Show | a0001c0002t0003g0056a0001c0003t0009g0085a0001c0004t0036g0099others(1): Show | 4 | 104 | 0.0385 | 20 | c.478 others(39): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2420102 | G | GGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02886.hp1 HG02922.hp2 others(3): Show |
a0001 | a0001c0001a0001c0033a0001c0038 | a0001c0001t0004a0001c0001t0005a0001c0001t0015others(3): Show | a0001c0001t0004g0038a0001c0001t0005g0015a0001c0001t0015g0030others(3): Show | 6 | 104 | 0.0577 | 20 | c.478 others(39): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2497969 | T | TCACACAC others(13): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0022 | a0001c0022t0014 | a0001c0022t0014g0050 | 1 | 104 | 0.0096 | 20 | c.111 others(39): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 7/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2535704 | T | TAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01496.hp2 HG03492.hp2 |
a0001a0003 | a0001c0002a0003c0027 | a0001c0002t0001a0003c0027t0011 | a0001c0002t0001g0017a0003c0027t0011g0013 | 2 | 104 | 0.0192 | 20 | c.139 others(41): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1D_chr3_53489611_53818733 | 53682365 | T | TAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0101 | 1 | 210 | 0.0048 | 20 | 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 | 53691691 | G | GATATATA others(13): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01891.hp1 HG01978.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0017a0001c0002t0051a0001c0003t0014others(2): Show | a0001c0001t0017g0110a0001c0002t0051g0121a0001c0003t0014g0022others(2): Show | 5 | 210 | 0.0238 | 20 | c.122 others(41): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 8/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA1D_chr3_53489611_53818733 | 53782262 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0072 | a0001c0001t0072g0007 | 1 | 210 | 0.0048 | 20 | c.485 others(37): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 40/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA1D_chr3_53489611_53818733 | 53782264 | G | GTGTATAT others(13): Show |
intron_variant | MODIFIER | HG03579.hp1 HG04199.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0032a0001c0004t0008 | a0001c0001t0032g0206a0001c0004t0008g0048 | 2 | 210 | 0.0095 | 20 | c.485 others(37): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 40/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA1D_chr3_53489611_53818733 | 53787425 | C | CTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG01074.hp2 HG02109.hp1 HG02486.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0041a0001c0002t0007a0001c0002t0034others(2): Show | a0001c0001t0041g0125a0001c0002t0007g0006a0001c0002t0034g0197others(2): Show | 5 | 210 | 0.0238 | 20 | c.498 others(37): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 41/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA1D_chr3_53489611_53818733 | 53805724 | C | CCATCTTC others(13): Show |
intron_variant | MODIFIER | HG01891.hp2 HG03540.hp1 |
a0001 | a0001c0002 | a0001c0002t0019 | a0001c0002t0019g0115a0001c0002t0019g0126 | 2 | 210 | 0.0095 | 20 | c.580 others(37): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 46/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA1D_chr3_53489611_53818733 | 53805917 | G | GCTCCATC others(13): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0052 | 1 | 210 | 0.0048 | 20 | c.580 others(37): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 46/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA1D_chr3_53489611_53818733 | 53810758 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0005 | a0001c0005t0009 | a0001c0005t0009g0080 | 1 | 210 | 0.0048 | 20 | c.625 others(37): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 48/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA1E_chr1_181478517_181813084 | 181590412 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0126 | 1 | 206 | 0.0049 | 20 | c.951 others(37): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CACNA1E_chr1_181478517_181813084 | 181590414 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0112 | 1 | 206 | 0.0049 | 20 | c.951 others(37): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CACNA1E_chr1_181478517_181813084 | 181795767 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | HG00280.hp1 HG03710.hp1 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0023a0003c0003t0001g0106 | 2 | 206 | 0.0097 | 20 | c.620 others(37): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 46/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CACNA1G_chr17_50555715_50632474 | 50564125 | A | AGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02717.hp1 HG02922.hp1 |
a0001a0004 | a0001c0010a0001c0031a0004c0019 | a0001c0010t0001a0001c0031t0001a0004c0019t0002 | a0001c0010t0001g0072a0001c0031t0001g0070a0004c0019t0002g0071 | 3 | 246 | 0.0122 | 20 | c.242 others(37): Show |
CACNA1G | ENSG00000006283.18 | transcript | ENST00000359106.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CACNA1G_chr17_50555715_50632474 | 50569015 | T | TGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01168.hp2 HG01169.hp1 others(17): Show |
a0001a0004a0006 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0009a0001c0002t0001a0001c0002t0004others(10): Show | a0001c0001t0009g0030a0001c0002t0001g0114a0001c0002t0004g0152others(14): Show | 20 | 246 | 0.0813 | 20 | c.354 others(33): Show |
CACNA1G | ENSG00000006283.18 | transcript | ENST00000359106.10 | protein_coding | 2/37 | chr17 | TogoVar | ||||||
CACNA1G_chr17_50555715_50632474 | 50570557 | C | CTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00544.hp2 others(41): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(10): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0015others(40): Show | 44 | 246 | 0.1789 | 20 | c.586 others(35): Show |
CACNA1G | ENSG00000006283.18 | transcript | ENST00000359106.10 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CACNA1H_chr16_1148106_1226768 | 1153035 | C | CGGCCCCG others(13): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0114 | 1 | 338 | 0.0030 | 20 | c.-45 others(29): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 70 | chr16 | TogoVar | ||||||
CACNA1I_chr22_39565753_39694735 | 39570289 | T | TTCCTTCC others(13): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG01099.hp2 HG02083.hp1 others(1): Show |
a0001a0022a0024 | a0001c0001a0022c0037a0024c0035 | a0001c0001t0047a0001c0001t0048a0022c0037t0041others(1): Show | a0001c0001t0047g0168a0001c0001t0048g0128a0022c0037t0041g0166others(1): Show | 4 | 236 | 0.0170 | 20 | c.-46 others(29): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 463 | chr22 | TogoVar | ||||||
CACNA1I_chr22_39565753_39694735 | 39586493 | A | AAAATAAA others(13): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02615.hp2 HG02809.hp2 others(2): Show |
a0001a0006 | a0001c0001a0001c0030a0006c0012 | a0001c0001t0005a0001c0001t0008a0001c0030t0004others(1): Show | a0001c0001t0005g0118a0001c0001t0005g0119a0001c0001t0008g0131others(2): Show | 5 | 236 | 0.0212 | 20 | c.237 others(39): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CACNA1I_chr22_39565753_39694735 | 39596500 | G | GGGAGCAG others(13): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0183 | 1 | 236 | 0.0042 | 20 | c.237 others(37): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CACNA1I_chr22_39565753_39694735 | 39620012 | T | TATCCATC others(13): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 |
a0001a0002 | a0001c0001a0002c0013 | a0001c0001t0008a0002c0013t0012 | a0001c0001t0008g0139a0002c0013t0012g0137 | 2 | 236 | 0.0085 | 20 | c.580 others(35): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CACNA1S_chr1_201034512_201117426 | 201035818 | C | CTTTTTTT others(13): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 NA20129.hp1 |
a0005a0009 | a0005c0094a0009c0018 | a0005c0094t0001a0009c0018t0001 | a0005c0094t0001g0263a0009c0018t0001g0189 | 2 | 314 | 0.0064 | 20 | c.*40 others(31): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3693 | chr1 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 81951969 | G | GTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0006 | 1 | 144 | 0.0069 | 20 | c.316 others(39): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 38/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 81978753 | G | GTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 144 | 0.0069 | 20 | c.195 others(39): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 24/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 81985196 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG02257.hp2 NA18906.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0011a0001c0003t0001g0072 | 2 | 144 | 0.0139 | 20 | c.179 others(37): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 21/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82140954 | T | TAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0088a0001c0001t0004g0079 | 2 | 144 | 0.0139 | 20 | c.355 others(37): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 4/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82181041 | A | ATTTTTTT others(13): Show |
intron_variant | MODIFIER | HG01071.hp1 HG03239.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0096a0001c0001t0005g0105 | 2 | 144 | 0.0139 | 20 | c.295 others(39): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82186230 | A | AGAAGGAA others(13): Show |
intron_variant | MODIFIER | HG02886.hp2 NA19057.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008 | a0001c0001t0004g0041a0001c0001t0008g0023 | 2 | 144 | 0.0139 | 20 | c.295 others(39): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82186255 | A | AAAGGAAG others(13): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0083 | 1 | 144 | 0.0069 | 20 | c.295 others(39): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar |