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 | 13315940 | C | CTTTAT | intron_variant | MODIFIER | HG00099.hp1 HG01099.hp1 HG01192.hp1 others(12): Show |
a0001a0002a0004others(5): Show | a0001c0016a0001c0020a0001c0058others(11): Show | a0001c0016t0004a0001c0020t0001a0001c0058t0004others(11): Show | a0001c0016t0004g0047a0001c0016t0004g0074a0001c0020t0001g0051others(12): Show | 15 | 218 | 0.0688 | 5 | c.155 others(24): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 11/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13316552 | T | TAAAAA | intron_variant | MODIFIER | HG00423.hp2 HG01106.hp1 HG02273.hp2 others(10): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0037a0001c0038others(9): Show | a0001c0001t0005a0001c0037t0004a0001c0038t0007others(9): Show | a0001c0001t0005g0168a0001c0037t0004g0021a0001c0038t0007g0205others(10): Show | 13 | 218 | 0.0596 | 5 | c.155 others(22): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 11/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13329783 | C | CTTTTT | intron_variant | MODIFIER | HG01884.hp2 HG01934.hp1 HG02486.hp2 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0004a0001c0006a0001c0031others(5): Show | a0001c0004t0001a0001c0006t0005a0001c0006t0008others(7): Show | a0001c0004t0001g0078a0001c0006t0005g0110a0001c0006t0008g0217others(7): Show | 10 | 218 | 0.0459 | 5 | c.134 others(22): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 10/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13349007 | C | CAAAAA | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00609.hp1 others(41): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0004a0001c0005others(30): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0015others(36): Show | a0001c0001t0001g0182a0001c0004t0001g0018a0001c0004t0001g0199others(41): Show | 44 | 218 | 0.2018 | 5 | c.978 others(24): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 6/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13393817 | T | TCCTTC | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00438.hp2 others(58): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0004a0001c0005others(39): Show | a0001c0001t0004a0001c0004t0001a0001c0004t0011others(47): Show | a0001c0001t0004g0017a0001c0004t0001g0018a0001c0004t0001g0080others(58): Show | 61 | 218 | 0.2798 | 5 | c.540 others(24): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13415743 | T | TAAAAA | intron_variant | MODIFIER | HG00423.hp1 HG01070.hp1 HG01975.hp2 others(3): Show |
a0001a0007a0010others(1): Show | a0001c0018a0001c0049a0007c0009others(2): Show | a0001c0018t0001a0001c0049t0001a0007c0009t0034others(2): Show | a0001c0018t0001g0037a0001c0018t0001g0056a0001c0049t0001g0012others(3): Show | 6 | 218 | 0.0275 | 5 | c.539 others(24): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13426056 | T | TCAAAA | intron_variant | MODIFIER | HG00140.hp2 HG01978.hp2 |
a0002a0005 | a0002c0086a0005c0022 | a0002c0086t0003a0005c0022t0010 | a0002c0086t0003g0035a0005c0022t0010g0109 | 2 | 218 | 0.0092 | 5 | c.539 others(24): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13450139 | C | CAAAAA | intron_variant | MODIFIER | HG02486.hp2 HG02572.hp1 HG03225.hp1 others(2): Show |
a0001a0010a0011others(1): Show | a0001c0004a0001c0031a0010c0107others(2): Show | a0001c0004t0001a0001c0031t0036a0010c0107t0021others(2): Show | a0001c0004t0001g0078a0001c0031t0036g0215a0010c0107t0021g0004others(2): Show | 5 | 218 | 0.0229 | 5 | c.539 others(22): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13461340 | A | AAAAAC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp2 others(61): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0004a0001c0005others(40): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(50): Show | a0001c0001t0001g0019a0001c0001t0001g0050a0001c0001t0001g0128others(61): Show | 64 | 218 | 0.2936 | 5 | c.294 others(22): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13472743 | C | CTTAAT | intron_variant | MODIFIER | HG01109.hp2 HG03139.hp1 NA19030.hp2 |
a0001a0036 | a0001c0001a0001c0031a0036c0052 | a0001c0001t0004a0001c0031t0013a0036c0052t0006 | a0001c0001t0004g0155a0001c0031t0013g0123a0036c0052t0006g0154 | 3 | 218 | 0.0138 | 5 | c.294 others(24): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13511346 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00438.hp2 others(37): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0005a0001c0006others(27): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(33): Show | a0001c0001t0001g0193a0001c0001t0001g0194a0001c0001t0004g0218others(37): Show | 40 | 218 | 0.1835 | 5 | c.-51 others(16): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 4868 | chr19 | TogoVar | ||||||
CACNA1B_chr9_137872782_138129619 | 138087713 | C | CAAAAA | intron_variant | MODIFIER | HG00280.hp2 HG00597.hp2 HG02056.hp2 others(20): Show |
a0001a0002a0016 | a0001c0002a0001c0007a0001c0009others(3): Show | a0001c0002t0002a0001c0007t0003a0001c0009t0003others(5): Show | a0001c0002t0002g0046a0001c0007t0003g0038a0001c0007t0003g0041others(20): Show | 23 | 248 | 0.0927 | 5 | c.509 others(24): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CACNA1B_chr9_137872782_138129619 | 138090701 | C | CAAAAA | intron_variant | MODIFIER | HG01099.hp2 HG01243.hp2 HG01256.hp1 others(19): Show |
a0001a0002a0004others(1): Show | a0001c0002a0001c0012a0001c0032others(6): Show | a0001c0002t0001a0001c0002t0008a0001c0002t0021others(9): Show | a0001c0002t0001g0039a0001c0002t0001g0063a0001c0002t0001g0064others(19): Show | 22 | 248 | 0.0887 | 5 | c.509 others(24): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CACNA1B_chr9_137872782_138129619 | 138107267 | T | TTTATG | intron_variant | MODIFIER | HG00597.hp1 HG00673.hp1 HG00673.hp2 others(32): Show |
a0001a0002a0004others(3): Show | a0001c0002a0001c0003a0001c0005others(10): Show | a0001c0002t0001a0001c0002t0008a0001c0002t0030others(16): Show | a0001c0002t0001g0058a0001c0002t0001g0072a0001c0002t0008g0026others(32): Show | 35 | 248 | 0.1411 | 5 | c.542 others(24): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | TogoVar | ||||||
CACNA1B_chr9_137872782_138129619 | 138128715 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG02257.hp2 HG02280.hp1 HG02615.hp2 others(6): Show |
a0001a0002a0004others(2): Show | a0001c0002a0001c0017a0002c0001others(4): Show | a0001c0002t0008a0001c0017t0006a0002c0001t0002others(4): Show | a0001c0002t0008g0065a0001c0017t0006g0122a0002c0001t0002g0178others(6): Show | 9 | 248 | 0.0363 | 5 | c.*67 others(16): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 4097 | chr9 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2310352 | A | ATATAT | intron_variant | MODIFIER | HG01891.hp1 HG03017.hp1 HG03486.hp2 |
a0001 | a0001c0004a0001c0036a0001c0038 | a0001c0004t0010a0001c0036t0007a0001c0038t0041 | a0001c0004t0010g0020a0001c0036t0007g0100a0001c0038t0041g0047 | 3 | 104 | 0.0289 | 5 | c.478 others(26): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2323826 | G | GATCTC | intron_variant | MODIFIER | HG01993.hp1 HG02055.hp2 HG02273.hp1 others(11): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0004a0001c0001t0015a0001c0001t0043others(9): Show | a0001c0001t0004g0005a0001c0001t0015g0034a0001c0001t0043g0032others(11): Show | 14 | 104 | 0.1346 | 5 | c.478 others(26): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2501209 | C | CAAAAA | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG02145.hp1 others(5): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0013a0001c0001t0015a0001c0002t0001others(5): Show | a0001c0001t0013g0014a0001c0001t0015g0030a0001c0002t0001g0091others(5): Show | 8 | 104 | 0.0769 | 5 | c.111 others(24): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 7/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2652895 | C | CCCCCA | intron_variant | MODIFIER | HG00140.hp2 HG01071.hp1 HG01071.hp2 others(32): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(22): Show | a0001c0001t0001g0088a0001c0001t0002g0001a0001c0001t0005g0015others(32): Show | 35 | 104 | 0.3365 | 5 | c.407 others(22): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2682867 | A | ACACAC | intron_variant | MODIFIER | HG02257.hp2 HG02280.hp1 HG02970.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0029 | a0001c0001t0045a0001c0003t0001a0001c0003t0037others(1): Show | a0001c0001t0045g0052a0001c0003t0001g0009a0001c0003t0037g0003others(1): Show | 4 | 104 | 0.0385 | 5 | c.557 others(22): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 43/46 | chr12 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53521781 | T | TACTTA | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 NA20129.hp1 others(1): Show |
a0001 | a0001c0002a0001c0008 | a0001c0002t0028a0001c0002t0030a0001c0002t0034others(1): Show | a0001c0002t0028g0198a0001c0002t0030g0196a0001c0002t0034g0197others(1): Show | 4 | 210 | 0.0191 | 5 | c.483 others(24): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 3/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA1D_chr3_53489611_53818733 | 53682365 | T | TAAAAA | intron_variant | MODIFIER | HG02258.hp1 HG02723.hp2 HG03041.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0032a0001c0002t0006a0001c0002t0036 | a0001c0001t0032g0012a0001c0002t0006g0011a0001c0002t0006g0180others(3): Show | 6 | 210 | 0.0286 | 5 | c.122 others(24): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 8/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA1D_chr3_53489611_53818733 | 53725004 | C | CTTTTT | intron_variant | MODIFIER | HG02040.hp2 HG02257.hp2 HG02809.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0024a0001c0002t0005a0001c0002t0015others(2): Show | a0001c0001t0024g0069a0001c0002t0005g0097a0001c0002t0015g0117others(2): Show | 5 | 210 | 0.0238 | 5 | c.216 others(24): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 15/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA1D_chr3_53489611_53818733 | 53730245 | C | CTTTTG | intron_variant | MODIFIER | HG01175.hp1 HG02145.hp2 HG02258.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0046a0001c0001t0067a0001c0002t0006others(4): Show | a0001c0001t0046g0119a0001c0001t0067g0045a0001c0002t0006g0180others(4): Show | 7 | 210 | 0.0333 | 5 | c.228 others(22): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 16/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA1D_chr3_53489611_53818733 | 53767565 | C | CAAAAA | intron_variant | MODIFIER | HG00673.hp2 HG01074.hp2 HG01169.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0041a0001c0001t0068a0001c0002t0007others(14): Show | a0001c0001t0041g0125a0001c0001t0068g0001a0001c0002t0007g0006others(17): Show | 20 | 210 | 0.0952 | 5 | c.393 others(24): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 31/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA1E_chr1_181478517_181813084 | 181614194 | A | ATTTTC | intron_variant | MODIFIER | HG00673.hp1 HG01071.hp1 HG01074.hp2 others(30): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0005others(6): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0009others(23): Show | a0001c0001t0002g0001a0001c0001t0006g0131a0001c0001t0009g0135others(30): Show | 33 | 206 | 0.1602 | 5 | c.951 others(24): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CACNA1E_chr1_181478517_181813084 | 181615742 | C | CTCATA | intron_variant | MODIFIER | HG01074.hp2 HG01192.hp1 HG02257.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0009others(2): Show | a0001c0001t0002a0001c0001t0010a0001c0001t0011others(7): Show | a0001c0001t0002g0001a0001c0001t0010g0028a0001c0001t0011g0038others(7): Show | 10 | 206 | 0.0485 | 5 | c.951 others(24): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CACNA1E_chr1_181478517_181813084 | 181615742 | C | CTCTTA | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(164): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0004a0001c0005others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(98): Show | a0001c0001t0001g0166a0001c0001t0002g0195a0001c0001t0003g0044others(164): Show | 167 | 206 | 0.8107 | 5 | c.951 others(24): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CACNA1E_chr1_181478517_181813084 | 181616733 | A | AACAAG | intron_variant | MODIFIER | HG01243.hp1 HG02717.hp2 HG02976.hp1 others(1): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0013others(1): Show | a0001c0001t0002a0002c0002t0027a0005c0013t0020others(1): Show | a0001c0001t0002g0126a0002c0002t0027g0036a0005c0013t0020g0194others(1): Show | 4 | 206 | 0.0194 | 5 | c.952 others(24): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | TogoVar | ||||||
CACNA1E_chr1_181478517_181813084 | 181641703 | G | GTTTTT | intron_variant | MODIFIER | HG00323.hp1 HG01109.hp1 HG01169.hp1 others(2): Show |
a0001a0002a0009others(1): Show | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0024a0001c0004t0002a0002c0002t0027others(2): Show | a0001c0001t0024g0112a0001c0004t0002g0101a0002c0002t0027g0036others(2): Show | 5 | 206 | 0.0243 | 5 | c.952 others(22): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CACNA1E_chr1_181478517_181813084 | 181790811 | C | CTTAGT | intron_variant | MODIFIER | HG00408.hp1 HG02132.hp1 HG02135.hp1 others(11): Show |
a0001 | a0001c0001a0001c0026 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0002g0126a0001c0001t0003g0130a0001c0001t0003g0134others(11): Show | 14 | 206 | 0.0680 | 5 | c.589 others(22): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 44/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CACNA1F_chrX_49200063_49238340 | 49206392 | C | CAAAAA | intron_variant | MODIFIER | HG02155.hp1 | a0002 | a0002c0014 | a0002c0014t0001 | a0002c0014t0001g0084 | 1 | 290 | 0.0035 | 5 | c.547 others(22): Show |
CACNA1F | ENSG00000102001.13 | transcript | ENST00000323022.10 | protein_coding | 46/47 | chrX | TogoVar | ||||||
CACNA1F_chrX_49200063_49238340 | 49223595 | C | CAAAAA | intron_variant | MODIFIER | HG02738.hp1 HG03195.hp2 HG03654.hp1 others(1): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0001 | a0001c0002t0001g0038a0001c0002t0001g0102a0001c0002t0001g0103others(1): Show | 4 | 290 | 0.0138 | 5 | c.187 others(22): Show |
CACNA1F | ENSG00000102001.13 | transcript | ENST00000323022.10 | protein_coding | 14/47 | chrX | TogoVar | ||||||
CACNA1F_chrX_49200063_49238340 | 49223618 | A | AAAAAG | intron_variant | MODIFIER | HG00738.hp1 HG00741.hp2 NA18906.hp1 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0167a0003c0004t0001g0169a0003c0004t0001g0170 | 3 | 290 | 0.0103 | 5 | c.187 others(22): Show |
CACNA1F | ENSG00000102001.13 | transcript | ENST00000323022.10 | protein_coding | 14/47 | chrX | TogoVar | ||||||
CACNA1I_chr22_39565753_39694735 | 39598288 | C | CGCCCT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(122): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0009others(31): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(61): Show | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0041others(122): Show | 125 | 236 | 0.5297 | 5 | c.348 others(18): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CACNA1I_chr22_39565753_39694735 | 39598941 | G | GTTTTT | intron_variant | MODIFIER | HG00639.hp1 HG01255.hp2 HG01261.hp1 others(12): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0030a0002c0003others(7): Show | a0001c0001t0005a0001c0001t0008a0001c0030t0004others(10): Show | a0001c0001t0005g0050a0001c0001t0005g0118a0001c0001t0008g0008others(12): Show | 15 | 236 | 0.0636 | 5 | c.348 others(20): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CACNA1I_chr22_39565753_39694735 | 39601903 | C | CTTCCT | intron_variant | MODIFIER | HG02922.hp1 NA19240.hp2 NA21309.hp2 |
a0001a0002 | a0001c0027a0002c0025 | a0001c0027t0015a0002c0025t0001 | a0001c0027t0015g0092a0002c0025t0001g0090a0002c0025t0001g0091 | 3 | 236 | 0.0127 | 5 | c.482 others(22): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CACNA1S_chr1_201034512_201117426 | 201035818 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00558.hp2 HG01081.hp2 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(5): Show | a0001c0001t0001g0055a0001c0001t0001g0079a0001c0001t0001g0183others(10): Show | 13 | 314 | 0.0414 | 5 | c.*40 others(16): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3693 | chr1 | TogoVar | ||||||
CACNA1S_chr1_201034512_201117426 | 201046174 | A | ATTTAT | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG01070.hp1 others(54): Show |
a0001a0002a0005others(14): Show | a0001c0007a0001c0009a0001c0014others(34): Show | a0001c0007t0001a0001c0007t0002a0001c0009t0001others(37): Show | a0001c0007t0001g0097a0001c0007t0001g0111a0001c0007t0001g0142others(52): Show | 57 | 314 | 0.1815 | 5 | c.466 others(22): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | TogoVar | ||||||
CACNA1S_chr1_201034512_201117426 | 201113774 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG01261.hp2 HG02055.hp1 HG02080.hp2 others(3): Show |
a0001a0009 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(1): Show | a0001c0001t0001g0017a0001c0002t0001g0178a0001c0004t0001g0029others(3): Show | 6 | 314 | 0.0191 | 5 | c.-14 others(16): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1349 | chr1 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 81966202 | T | TAAGAA | intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(118): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0058a0001c0001t0001g0070a0001c0001t0001g0077others(118): Show | 121 | 144 | 0.8403 | 5 | c.250 others(22): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 31/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 81995800 | A | AAAAAT | intron_variant | MODIFIER | HG02257.hp2 HG02809.hp1 HG02818.hp1 others(3): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0001a0001c0003t0002a0001c0004t0003 | a0001c0003t0001g0011a0001c0003t0001g0025a0001c0003t0001g0061others(3): Show | 6 | 144 | 0.0417 | 5 | c.166 others(22): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 19/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82102429 | C | CATAAT | intron_variant | MODIFIER | HG00621.hp1 HG00639.hp1 HG00642.hp1 others(57): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0037others(57): Show | 60 | 144 | 0.4167 | 5 | c.526 others(24): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 6/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82115775 | C | CCTTTA | intron_variant | MODIFIER | HG01433.hp1 HG02572.hp1 HG02717.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0077a0001c0001t0001g0087a0001c0001t0003g0076others(4): Show | 7 | 144 | 0.0486 | 5 | c.526 others(22): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 6/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82140954 | T | TTAAAA | intron_variant | MODIFIER | HG00642.hp2 HG01243.hp2 HG01884.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(3): Show | a0001c0001t0001g0068a0001c0001t0004g0031a0001c0001t0008g0043others(5): Show | 8 | 144 | 0.0556 | 5 | c.355 others(22): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 4/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82174042 | C | CAAAAA | intron_variant | MODIFIER | HG00621.hp1 HG01496.hp1 HG02027.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0010others(6): Show | a0001c0001t0003g0051a0001c0001t0004g0050a0001c0001t0010g0089others(9): Show | 12 | 144 | 0.0833 | 5 | c.295 others(22): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82211872 | T | TTTTTG | intron_variant | MODIFIER | HG02630.hp2 HG02818.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0011 | a0001c0001t0002g0097a0001c0001t0009g0027a0001c0001t0011g0066 | 3 | 144 | 0.0208 | 5 | c.295 others(24): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82229686 | T | TTTTTA | intron_variant | MODIFIER | HG00621.hp1 HG01496.hp1 HG01975.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0133a0001c0001t0003g0051a0001c0001t0004g0050others(9): Show | 12 | 144 | 0.0833 | 5 | c.295 others(24): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82258817 | C | CTTTTT | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp2 HG01123.hp2 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0012others(30): Show | 33 | 144 | 0.2292 | 5 | c.294 others(24): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82287997 | A | ATTTTT | intron_variant | MODIFIER | HG01433.hp1 HG01884.hp2 HG02886.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(3): Show | a0001c0001t0001g0012a0001c0001t0001g0077a0001c0001t0003g0062others(5): Show | 8 | 144 | 0.0556 | 5 | c.294 others(24): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar |