view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CABP5_chr19_48024383_48049079 | 48044399 | C | CCTTTGGA others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(210): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(120): Show |
213 | 374 | 0.5695 | 8 | c.-47 others(17): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 321 | chr19 | TogoVar | |||||||
CABP7_chr22_29715003_29736833 | 29727209 | T | TTAAGGAT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(208): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(58): Show |
211 | 436 | 0.4839 | 8 | c.110 others(23): Show |
CABP7 | ENSG00000100314.4 | transcript | ENST00000216144.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CACFD1_chr9_133454978_133475848 | 133458555 | C | CAAAAAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp2 others(214): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0001 a0001c0001t0001g0033 a0001c0001t0001g0083 others(79): Show |
217 | 287 | 0.7561 | 8 | c.-15 others(19): Show |
CACFD1 | ENSG00000160325.15 | transcript | ENST00000316948.9 | protein_coding | 1422 | chr9 | TogoVar | |||||||
CACFD1_chr9_133454978_133475848 | 133470223 | G | GTGTGTGT others(1): Show |
3_prime_UTR_variant | MODIFIER | HG00423.hp1 NA18969.hp1 NA18986.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0010 | 5 | 418 | 0.0120 | 8 | c.*15 others(19): Show |
CACFD1 | ENSG00000160325.15 | transcript | ENST00000316948.9 | protein_coding | 5/5 | 1574 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CACHD1_chr1_64465129_64698053 | 64466140 | A | ATGTGTGT others(1): Show |
upstream_gene_variant | MODIFIER | HG02486.hp2 HG02615.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0045 a0001c0001t0014g0044 |
2 | 127 | 0.0157 | 8 | c.-46 others(19): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 3988 | chr1 | TogoVar | |||||||
CACHD1_chr1_64465129_64698053 | 64543402 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02630.hp1 HG02717.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0006a0001c0001t0015others(2): Show | a0001c0001t0003g0089 a0001c0001t0006g0134 a0001c0001t0015g0095 others(2): Show |
5 | 19 | 0.2632 | 8 | c.199 others(25): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACHD1_chr1_64465129_64698053 | 64606106 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG02257.hp2 HG03098.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0113 a0001c0002t0001g0158 |
2 | 82 | 0.0244 | 8 | c.517 others(25): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACHD1_chr1_64465129_64698053 | 64681541 | G | GGTTTTTT others(1): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02056.hp1 HG02135.hp1 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0004 | a0001c0002t0001g0030 a0001c0002t0001g0086 a0001c0002t0001g0099 others(7): Show |
10 | 66 | 0.1515 | 8 | c.348 others(25): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 25/26 | chr1 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13202280 | T | TTATCTAT others(1): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 HG00735.hp2 HG01099.hp1 others(11): Show |
a0002a0003a0007others(4): Show | a0002c0002a0002c0003a0002c0010others(9): Show | a0002c0002t0002a0002c0003t0002a0002c0010t0002others(9): Show | a0002c0002t0002g0040 a0002c0003t0002g0056 a0002c0003t0002g0167 others(11): Show |
14 | 146 | 0.0959 | 8 | c.*50 others(19): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 4161 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13202287 | T | TCTATCTA others(1): Show |
downstream_gene_variant | MODIFIER | NA19065.hp2 NA19084.hp2 |
a0003 | a0003c0055a0003c0116 | a0003c0055t0019a0003c0116t0004 | a0003c0055t0019g0071 a0003c0116t0004g0111 |
2 | 216 | 0.0093 | 8 | c.*50 others(19): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 4154 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13202316 | C | CTATCTGT others(1): Show |
downstream_gene_variant | MODIFIER | HG02717.hp2 NA18968.hp1 |
a0003a0039 | a0003c0073a0039c0057 | a0003c0073t0003a0039c0057t0009 | a0003c0073t0003g0035 a0039c0057t0009g0002 |
2 | 166 | 0.0120 | 8 | c.*49 others(19): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 4125 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13202322 | A | ATCTATCT others(1): Show |
downstream_gene_variant | MODIFIER | HG01106.hp1 HG01167.hp1 HG01167.hp2 others(14): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0004a0001c0005others(11): Show | a0001c0001t0001a0001c0004t0001a0001c0005t0001others(11): Show | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0181 others(14): Show |
17 | 165 | 0.1030 | 8 | c.*49 others(19): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 4119 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13212827 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02486.hp2 HG02622.hp2 others(2): Show |
a0001a0003a0016 | a0001c0004a0001c0038a0001c0099others(2): Show | a0001c0004t0001a0001c0038t0002a0001c0099t0005others(2): Show | a0001c0004t0001g0075 a0001c0038t0002g0206 a0001c0099t0005g0019 others(2): Show |
5 | 113 | 0.0442 | 8 | c.594 others(23): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 40/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13247713 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00609.hp1 others(41): Show |
a0001a0002a0003others(16): Show | a0001c0004a0001c0018a0001c0026others(32): Show | a0001c0004t0001a0001c0018t0001a0001c0026t0001others(33): Show | a0001c0004t0001g0080 a0001c0004t0001g0199 a0001c0018t0001g0031 others(41): Show |
44 | 124 | 0.3548 | 8 | c.486 others(27): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 30/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13310515 | T | TAGAGAGA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00735.hp1 others(31): Show |
a0001a0002a0003others(12): Show | a0001c0018a0001c0020a0001c0037others(27): Show | a0001c0018t0001a0001c0020t0001a0001c0037t0001others(27): Show | a0001c0018t0001g0031 a0001c0018t0001g0062 a0001c0020t0001g0186 others(31): Show |
34 | 52 | 0.6538 | 8 | c.166 others(27): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 12/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13320237 | C | CGAGAGAG others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01123.hp2 NA18964.hp1 others(1): Show |
a0001a0003a0005others(1): Show | a0001c0005a0003c0015a0005c0024others(1): Show | a0001c0005t0001a0003c0015t0002a0005c0024t0002others(1): Show | a0001c0005t0001g0204 a0003c0015t0002g0166 a0005c0024t0002g0118 others(1): Show |
4 | 53 | 0.0755 | 8 | c.134 others(27): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 10/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13336594 | G | GGAGAGAG others(1): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02683.hp2 HG03516.hp1 others(1): Show |
a0001a0002a0003others(1): Show | a0001c0058a0002c0124a0003c0015others(1): Show | a0001c0058t0001a0002c0124t0002a0003c0015t0002others(1): Show | a0001c0058t0001g0083 a0002c0124t0002g0132 a0003c0015t0002g0119 others(1): Show |
4 | 50 | 0.0800 | 8 | c.979 others(23): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 6/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13336596 | A | AGAGAGAG others(1): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01257.hp1 others(4): Show |
a0001a0002a0030others(1): Show | a0001c0001a0002c0003a0030c0044others(1): Show | a0001c0001t0001a0002c0003t0002a0030c0044t0001others(1): Show | a0001c0001t0001g0014 a0001c0001t0001g0126 a0001c0001t0001g0181 others(4): Show |
7 | 216 | 0.0324 | 8 | c.979 others(23): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 6/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13344736 | T | TTTATTTT others(1): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01934.hp1 HG02258.hp2 others(9): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0016a0002c0010others(8): Show | a0001c0001t0001a0001c0016t0001a0002c0010t0002others(8): Show | a0001c0001t0001g0022 a0001c0016t0001g0047 a0001c0016t0001g0076 others(9): Show |
12 | 99 | 0.1212 | 8 | c.979 others(25): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 6/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13360265 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG02559.hp1 NA18906.hp1 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0201 a0001c0005t0001g0202 |
2 | 87 | 0.0230 | 8 | c.785 others(23): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 5/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13402803 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG02723.hp2 HG03225.hp2 NA20300.hp2 |
a0001 | a0001c0016a0001c0071 | a0001c0016t0001a0001c0071t0003 | a0001c0016t0001g0047 a0001c0016t0001g0076 a0001c0071t0003g0138 |
3 | 214 | 0.0140 | 8 | c.540 others(27): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13406509 | A | ATATGTAT others(1): Show |
intron_variant | MODIFIER | HG01257.hp1 HG02056.hp2 HG02293.hp2 |
a0001a0006 | a0001c0001a0006c0009 | a0001c0001t0001a0006c0009t0002 | a0001c0001t0001g0025 a0001c0001t0001g0126 a0006c0009t0002g0055 |
3 | 190 | 0.0158 | 8 | c.540 others(27): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13413895 | A | AAAAGAAA others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00735.hp2 HG01192.hp1 others(7): Show |
a0002a0003a0008others(1): Show | a0002c0002a0002c0003a0002c0019others(7): Show | a0002c0002t0002a0002c0003t0002a0002c0019t0002others(7): Show | a0002c0002t0002g0095 a0002c0003t0002g0056 a0002c0019t0002g0009 others(7): Show |
10 | 71 | 0.1408 | 8 | c.539 others(27): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13427453 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00438.hp2 others(43): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0004a0001c0005others(32): Show | a0001c0001t0001a0001c0004t0001a0001c0005t0001others(32): Show | a0001c0001t0001g0022 a0001c0001t0001g0049 a0001c0004t0001g0145 others(43): Show |
46 | 103 | 0.4466 | 8 | c.539 others(27): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13429167 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02129.hp1 HG03139.hp2 |
a0003a0004 | a0003c0039a0004c0047 | a0003c0039t0001a0004c0047t0001 | a0003c0039t0001g0074 a0004c0047t0001g0178 |
2 | 35 | 0.0571 | 8 | c.539 others(27): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13430204 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02165.hp2 HG02451.hp2 others(8): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0006a0001c0125others(8): Show | a0001c0001t0001a0001c0006t0013a0001c0125t0003others(8): Show | a0001c0001t0001g0038 a0001c0006t0013g0136 a0001c0125t0003g0213 others(8): Show |
11 | 152 | 0.0724 | 8 | c.539 others(27): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13432416 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01167.hp1 HG01192.hp2 others(7): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0005others(6): Show | a0001c0001t0001a0001c0004t0001a0001c0005t0021others(6): Show | a0001c0001t0001g0126 a0001c0004t0001g0080 a0001c0004t0001g0158 others(7): Show |
10 | 172 | 0.0581 | 8 | c.539 others(27): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13433460 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02129.hp1 NA19000.hp1 others(2): Show |
a0001a0004a0021others(2): Show | a0001c0016a0004c0047a0021c0028others(2): Show | a0001c0016t0001a0004c0047t0001a0021c0028t0002others(2): Show | a0001c0016t0001g0047 a0004c0047t0001g0178 a0021c0028t0002g0073 others(2): Show |
5 | 20 | 0.2500 | 8 | c.539 others(27): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13466877 | A | ATTATTTA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00544.hp2 others(49): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0004a0001c0005others(38): Show | a0001c0001t0001a0001c0004t0001a0001c0005t0001others(38): Show | a0001c0001t0001g0181 a0001c0001t0001g0192 a0001c0004t0001g0145 others(49): Show |
52 | 146 | 0.3562 | 8 | c.294 others(27): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13489003 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01934.hp1 HG03195.hp1 HG03195.hp2 others(2): Show |
a0001a0003a0015others(1): Show | a0001c0096a0003c0015a0003c0108others(2): Show | a0001c0096t0010a0003c0015t0001a0003c0108t0005others(2): Show | a0001c0096t0010g0003 a0003c0015t0001g0018 a0003c0108t0005g0210 others(2): Show |
5 | 102 | 0.0490 | 8 | c.293 others(27): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | |||||||
CACNA1B_chr9_137872782_138129619 | 137939803 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG02698.hp1 NA18964.hp1 NA18971.hp2 |
a0002 | a0002c0008a0002c0054 | a0002c0008t0015a0002c0054t0002 | a0002c0008t0015g0214 a0002c0008t0015g0233 a0002c0054t0002g0245 |
3 | 231 | 0.0130 | 8 | c.967 others(27): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CACNA1B_chr9_137872782_138129619 | 137954856 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
a0001 | a0001c0019 | a0001c0019t0017a0001c0019t0025 | a0001c0019t0017g0124 a0001c0019t0017g0125 a0001c0019t0025g0126 |
3 | 127 | 0.0236 | 8 | c.107 others(25): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CACNA1B_chr9_137872782_138129619 | 138107218 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01069.hp1 HG01071.hp1 others(6): Show |
a0001a0002a0003others(2): Show | a0001c0003a0001c0007a0001c0015others(4): Show | a0001c0003t0005a0001c0007t0003a0001c0015t0002others(5): Show | a0001c0003t0005g0021 a0001c0007t0003g0039 a0001c0015t0002g0102 others(6): Show |
9 | 176 | 0.0511 | 8 | c.542 others(27): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2052893 | C | CCGGGCGG others(1): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 HG02280.hp2 HG02970.hp1 others(1): Show |
a0001a0003 | a0001c0001a0001c0006a0001c0038others(1): Show | a0001c0001t0017a0001c0006t0001a0001c0038t0041others(1): Show | a0001c0001t0017g0101 a0001c0006t0001g0102 a0001c0038t0041g0047 others(1): Show |
4 | 87 | 0.0460 | 8 | c.-67 others(17): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 93 | chr12 | TogoVar | |||||||
CACNA1C_chr12_2047987_2702950 | 2067449 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01891.hp1 HG01993.hp1 HG02523.hp2 others(6): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0002a0001c0001t0022a0001c0003t0005others(6): Show | a0001c0001t0002g0032 a0001c0001t0022g0063 a0001c0003t0005g0036 others(6): Show |
9 | 78 | 0.1154 | 8 | c.49+ others(25): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2067481 | T | TGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02040.hp2 HG02257.hp1 others(6): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0029others(5): Show | a0001c0001t0002g0096 a0001c0002t0001g0028 a0001c0002t0001g0044 others(6): Show |
9 | 48 | 0.1875 | 8 | c.49+ others(25): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2071140 | T | TCCTCCCT others(1): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02886.hp2 HG03486.hp1 |
a0001a0003 | a0001c0001a0001c0022a0003c0027 | a0001c0001t0004a0001c0022t0014a0003c0027t0011 | a0001c0001t0004g0004 a0001c0022t0014g0050 a0003c0027t0011g0012 |
3 | 81 | 0.0370 | 8 | c.49+ others(25): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2071160 | C | CCCTTCCT others(1): Show |
intron_variant | MODIFIER | HG01993.hp1 HG02273.hp1 HG04115.hp2 |
a0001 | a0001c0003a0001c0006 | a0001c0003t0008a0001c0006t0003 | a0001c0003t0008g0062 a0001c0003t0008g0064 a0001c0006t0003g0074 |
3 | 104 | 0.0288 | 8 | c.49+ others(25): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2071168 | C | CCCTTCCT others(1): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01358.hp1 HG02145.hp1 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0007others(5): Show | a0001c0001t0024a0001c0004t0004a0001c0007t0005others(6): Show | a0001c0001t0024g0079 a0001c0004t0004g0084 a0001c0007t0005g0002 others(6): Show |
9 | 99 | 0.0909 | 8 | c.49+ others(25): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2071172 | C | CCCTGCCT others(1): Show |
intron_variant | MODIFIER | HG01496.hp1 HG01496.hp2 HG02257.hp2 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0004a0001c0001t0017a0001c0001t0028others(10): Show | a0001c0001t0004g0004 a0001c0001t0017g0005 a0001c0001t0028g0081 others(10): Show |
13 | 35 | 0.3714 | 8 | c.49+ others(25): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2120656 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02965.hp1 HG03209.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0024a0001c0002t0001a0001c0003t0044others(1): Show | a0001c0001t0024g0079 a0001c0002t0001g0028 a0001c0003t0044g0053 others(1): Show |
4 | 37 | 0.1081 | 8 | c.477 others(23): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2177587 | C | CCCTTCCT others(1): Show |
intron_variant | MODIFIER | HG02886.hp1 HG02922.hp1 HG03540.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0011a0001c0032others(1): Show | a0001c0001t0005a0001c0011t0030a0001c0032t0031others(1): Show | a0001c0001t0005g0015 a0001c0011t0030g0039 a0001c0032t0031g0103 others(1): Show |
4 | 51 | 0.0784 | 8 | c.477 others(27): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2177634 | C | CTCTTTCT others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01071.hp2 HG01358.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0004a0001c0001t0022a0001c0002t0001others(7): Show | a0001c0001t0004g0004 a0001c0001t0022g0063 a0001c0002t0001g0021 others(10): Show |
13 | 86 | 0.1512 | 8 | c.477 others(27): 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(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG02040.hp2 HG02809.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0019others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0017others(5): Show | a0001c0001t0002g0096 a0001c0001t0004g0006 a0001c0001t0017g0101 others(5): Show |
8 | 43 | 0.1860 | 8 | c.478 others(27): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2378817 | C | CCTTCCTC others(1): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02273.hp2 HG02809.hp1 others(10): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0022others(10): Show | a0001c0001t0002g0032 a0001c0001t0004g0104 a0001c0001t0022g0063 others(10): Show |
13 | 94 | 0.1383 | 8 | c.478 others(27): 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(1): Show |
intron_variant | MODIFIER | HG02683.hp2 HG02970.hp2 HG03195.hp1 others(1): Show |
a0001a0002a0004others(1): Show | a0001c0003a0002c0013a0004c0034others(1): Show | a0001c0003t0001a0002c0013t0035a0004c0034t0009others(1): Show | a0001c0003t0001g0009 a0002c0013t0035g0019 a0004c0034t0009g0041 others(1): Show |
4 | 30 | 0.1333 | 8 | c.478 others(27): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2446199 | G | GTGGATGG others(1): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02055.hp1 HG02145.hp1 others(19): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0006others(12): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(19): Show | a0001c0001t0003g0068 a0001c0001t0004g0006 a0001c0001t0005g0097 others(19): Show |
22 | 53 | 0.4151 | 8 | c.478 others(25): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2446199 | G | GTGGGTGG others(1): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01358.hp1 HG01358.hp2 others(5): Show |
a0001a0002 | a0001c0007a0001c0008a0001c0010others(2): Show | a0001c0007t0005a0001c0007t0006a0001c0008t0033others(4): Show | a0001c0007t0005g0002 a0001c0007t0006g0055 a0001c0008t0033g0080 others(5): Show |
8 | 39 | 0.2051 | 8 | c.478 others(25): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2497969 | T | TCTCACAC others(1): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02572.hp2 HG06807.hp2 |
a0001a0002 | a0001c0001a0002c0013 | a0001c0001t0004a0001c0001t0013a0002c0013t0016 | a0001c0001t0004g0104 a0001c0001t0013g0013 a0002c0013t0016g0017 |
3 | 35 | 0.0857 | 8 | c.111 others(27): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 7/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2511571 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02258.hp1 HG03098.hp2 others(2): Show |
a0001a0003a0006 | a0001c0001a0001c0004a0001c0017others(2): Show | a0001c0001t0015a0001c0004t0036a0001c0017t0006others(2): Show | a0001c0001t0015g0035 a0001c0004t0036g0099 a0001c0017t0006g0008 others(2): Show |
5 | 65 | 0.0769 | 8 | c.121 others(27): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 8/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |