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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C2orf92_chr2_97664713_97708066 | 97665723 | CTCTCTCT others(21): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00438.hp1 others(21): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0004 others(10): Show |
24 | 302 | 0.0795 | -28 | c.-40 others(39): Show |
C2orf92 | ENSG00000228486.11 | transcript | ENST00000627399.4 | protein_coding | 3989 | chr2 | TogoVar | |||||||
C2orf92_chr2_97664713_97708066 | 97665725 | CTCTCTCT others(21): Show |
C | upstream_gene_variant | MODIFIER | HG00741.hp2 HG01099.hp1 HG01255.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0048 a0002c0002t0001g0002 a0002c0002t0001g0018 others(5): Show |
9 | 302 | 0.0298 | -28 | c.-40 others(39): Show |
C2orf92 | ENSG00000228486.11 | transcript | ENST00000627399.4 | protein_coding | 3987 | chr2 | TogoVar | |||||||
C2orf92_chr2_97664713_97708066 | 97665727 | CTCTCTCT others(21): Show |
C | upstream_gene_variant | MODIFIER | HG01106.hp2 NA18973.hp2 NA19064.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0018 others(1): Show |
4 | 283 | 0.0141 | -28 | c.-40 others(39): Show |
C2orf92 | ENSG00000228486.11 | transcript | ENST00000627399.4 | protein_coding | 3985 | chr2 | TogoVar | |||||||
C3orf18_chr3_50553025_50572747 | 50556555 | AGTGTGTG others(21): Show |
A | downstream_gene_variant | MODIFIER | HG00423.hp2 HG03942.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 2 | 7 | 0.2857 | -28 | c.*30 others(39): Show |
C3orf18 | ENSG00000088543.15 | transcript | ENST00000357203.8 | protein_coding | 1469 | chr3 | TogoVar | |||||||
C3orf49_chr3_63814299_63853636 | 63850410 | AGGCTGGT others(21): Show |
A | downstream_gene_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 386 | 0.0026 | -28 | c.*20 others(39): Show |
C3orf49 | ENSG00000163632.15 | transcript | ENST00000295896.13 | protein_coding | 1775 | chr3 | TogoVar | |||||||
C3orf70_chr3_185071838_185158060 | 185091937 | ATATATAT others(21): Show |
A | intron_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0002 | a0002c0002t0093 | a0002c0002t0093g0362 | 1 | 364 | 0.0027 | -28 | c.197 others(45): Show |
C3orf70 | ENSG00000187068.3 | transcript | ENST00000335012.3 | protein_coding | 1/1 | chr3 | TogoVar | |||||||
C4A_chr6_31977057_32007681 | 31979083 | AAAGAAAG others(21): Show |
A | upstream_gene_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0005 | 1 | 322 | 0.0031 | -28 | c.-30 others(39): Show |
C4A | ENSG00000244731.10 | transcript | ENST00000428956.7 | protein_coding | 2973 | chr6 | TogoVar | |||||||
C4orf17_chr4_99506021_99547303 | 99506624 | TCTTTTCT others(21): Show |
T | upstream_gene_variant | MODIFIER | HG01884.hp2 HG01975.hp2 HG02258.hp1 others(11): Show |
a0002a0003a0004others(1): Show | a0002c0009a0003c0002a0004c0005others(1): Show | a0002c0009t0001a0003c0002t0001a0004c0005t0001others(1): Show | a0002c0009t0001g0021 a0003c0002t0001g0263 a0004c0005t0001g0226 others(10): Show |
14 | 378 | 0.0370 | -28 | c.-47 others(39): Show |
C4orf17 | ENSG00000138813.10 | transcript | ENST00000326581.9 | protein_coding | 4396 | chr4 | TogoVar | |||||||
C4orf46_chr4_158661675_158676887 | 158671210 | GTGAAAAC others(21): Show |
G | intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 368 | 0.0027 | -28 | c.186 others(43): Show |
C4orf46 | ENSG00000205208.5 | transcript | ENST00000379205.5 | protein_coding | 1/1 | chr4 | TogoVar | |||||||
C4orf48_chr4_2036995_2048964 | 2038237 | GTATATAT others(21): Show |
G | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00423.hp2 others(138): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(4): Show |
141 | 227 | 0.6211 | -28 | c.-38 others(39): Show |
C4orf48 | ENSG00000243449.8 | transcript | ENST00000409248.10 | protein_coding | 3757 | chr4 | TogoVar | |||||||
C5AR2_chr19_47327175_47352329 | 47336421 | TTTCTTTC others(21): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp1 others(93): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(79): Show |
96 | 108 | 0.8889 | -28 | c.-16 others(45): Show |
C5AR2 | ENSG00000134830.6 | transcript | ENST00000595464.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
C5AR2_chr19_47327175_47352329 | 47336433 | TTTCCTTC others(21): Show |
T | intron_variant | MODIFIER | HG02630.hp1 HG03041.hp1 |
a0001 | a0001c0004 | a0001c0004t0038a0001c0004t0039 | a0001c0004t0038g0221 a0001c0004t0039g0220 |
2 | 403 | 0.0050 | -28 | c.-16 others(45): Show |
C5AR2 | ENSG00000134830.6 | transcript | ENST00000595464.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
C5AR2_chr19_47327175_47352329 | 47344061 | GCCAGGCA others(21): Show |
G | 3_prime_UTR_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0067 | a0001c0001t0067g0043 | 1 | 404 | 0.0025 | -28 | c.*22 others(39): Show |
C5AR2 | ENSG00000134830.6 | transcript | ENST00000595464.3 | protein_coding | 2/2 | 2253 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
C5_chr9_120947335_121055275 | 121002238 | GTATATGT others(21): Show |
G | intron_variant | MODIFIER | NA21309.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0018 | 1 | 233 | 0.0043 | -28 | c.256 others(47): Show |
C5 | ENSG00000106804.10 | transcript | ENST00000223642.3 | protein_coding | 20/40 | chr9 | TogoVar | |||||||
C5orf52_chr5_157666533_157685158 | 157672050 | CCATCTCC others(21): Show |
C | intron_variant | MODIFIER | HG01175.hp2 HG02698.hp1 HG02738.hp2 others(3): Show |
a0002 | a0002c0002a0002c0009 | a0002c0002t0001a0002c0009t0001 | a0002c0002t0001g0014 a0002c0009t0001g0069 |
6 | 416 | 0.0144 | -28 | c.212 others(43): Show |
C5orf52 | ENSG00000187658.7 | transcript | ENST00000409999.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
C7_chr5_40904497_40989643 | 40968586 | ATATATAT others(21): Show |
A | intron_variant | MODIFIER | HG01106.hp1 HG01167.hp2 HG03041.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0008a0002c0002t0004 | a0001c0001t0004g0046 a0001c0001t0008g0206 a0002c0002t0004g0146 others(1): Show |
4 | 299 | 0.0134 | -28 | c.188 others(47): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
C7orf33_chr7_148585766_148620860 | 148598741 | TATATATA others(21): Show |
T | intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0296 | 1 | 441 | 0.0023 | -28 | c.204 others(45): Show |
C7orf33 | ENSG00000170279.3 | transcript | ENST00000307003.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
C7orf33_chr7_148585766_148620860 | 148598747 | TATATATA others(21): Show |
T | intron_variant | MODIFIER | HG02630.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0348 | 1 | 437 | 0.0023 | -28 | c.204 others(45): Show |
C7orf33 | ENSG00000170279.3 | transcript | ENST00000307003.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
C7orf33_chr7_148585766_148620860 | 148598753 | TATATATA others(21): Show |
T | intron_variant | MODIFIER | HG02630.hp2 HG02647.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 2 | 423 | 0.0047 | -28 | c.204 others(45): Show |
C7orf33 | ENSG00000170279.3 | transcript | ENST00000307003.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
C7orf33_chr7_148585766_148620860 | 148598755 | TATATATA others(21): Show |
T | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0321 | 1 | 408 | 0.0025 | -28 | c.204 others(45): Show |
C7orf33 | ENSG00000170279.3 | transcript | ENST00000307003.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1041214 | CGGGACCT others(21): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG03710.hp1 NA18944.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0026 | a0001c0001t0003g0323 a0001c0001t0004g0190 a0001c0001t0026g0175 |
3 | 317 | 0.0095 | -28 | c.130 others(47): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1041302 | ACCTGGGG others(21): Show |
A | intron_variant | MODIFIER | HG01167.hp2 HG02717.hp2 HG02965.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0008 | a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0005g0250 others(1): Show |
4 | 323 | 0.0124 | -28 | c.130 others(47): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1041376 | AGGGGAAC others(21): Show |
A | intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0232 | 1 | 322 | 0.0031 | -28 | c.130 others(47): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C8A_chr1_56849797_56923223 | 56885392 | TTAAATAA others(21): Show |
T | intron_variant | MODIFIER | HG01168.hp2 HG01433.hp2 HG03209.hp1 others(1): Show |
a0001a0003a0019 | a0001c0001a0003c0003a0019c0019 | a0001c0001t0001a0003c0003t0002a0019c0019t0001 | a0001c0001t0001g0093 a0001c0001t0001g0094 a0003c0003t0002g0217 others(1): Show |
4 | 364 | 0.0110 | -28 | c.856 others(43): Show |
C8A | ENSG00000157131.12 | transcript | ENST00000361249.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C8A_chr1_56849797_56923223 | 56885396 | ATAAATAT others(21): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG03491.hp1 HG03492.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0013 a0002c0002t0001g0028 |
3 | 355 | 0.0085 | -28 | c.856 others(43): Show |
C8A | ENSG00000157131.12 | transcript | ENST00000361249.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C8B_chr1_56924207_56971015 | 56941494 | GTAGATAG others(21): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02145.hp1 HG03654.hp2 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0116 a0001c0001t0001g0186 a0001c0005t0001g0137 others(1): Show |
4 | 232 | 0.0172 | -28 | c.123 others(45): Show |
C8B | ENSG00000021852.14 | transcript | ENST00000371237.9 | protein_coding | 8/11 | chr1 | TogoVar | |||||||
C9orf43_chr9_113405747_113434690 | 113433729 | TTTCCTTC others(21): Show |
T | downstream_gene_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 308 | 0.0032 | -28 | c.*43 others(39): Show |
C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 4040 | chr9 | TogoVar | |||||||
CA10_chr17_51625320_52163714 | 51754400 | GATATATA others(21): Show |
G | intron_variant | MODIFIER | HG02572.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0038 a0001c0001t0004g0072 |
2 | 10 | 0.2000 | -28 | c.280 others(45): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 3/8 | chr17 | TogoVar | |||||||
CA1_chr8_85322608_85383113 | 85338632 | TTTTCTTT others(21): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG00597.hp1 HG00609.hp1 others(147): Show |
a0001a0004 | a0001c0001a0001c0005a0004c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(106): Show |
150 | 188 | 0.7979 | -28 | c.38- others(41): Show |
CA1 | ENSG00000133742.14 | transcript | ENST00000523022.6 | protein_coding | 2/7 | chr8 | TogoVar | |||||||
CA6_chr1_8940868_8980092 | 8977700 | AAAAGAAA others(21): Show |
A | downstream_gene_variant | MODIFIER | HG02572.hp1 HG03098.hp1 |
a0001a0004 | a0001c0016a0004c0008 | a0001c0016t0001a0004c0008t0001 | a0001c0016t0001g0050 a0004c0008t0001g0205 |
2 | 108 | 0.0185 | -28 | c.*29 others(39): Show |
CA6 | ENSG00000131686.15 | transcript | ENST00000377443.7 | protein_coding | 2609 | chr1 | TogoVar | |||||||
CAB39L_chr13_49303650_49449064 | 49318496 | GGGAAAGG others(21): Show |
G | intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0114 | 1 | 132 | 0.0076 | -28 | c.835 others(45): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 10/10 | chr13 | TogoVar | |||||||
CAB39L_chr13_49303650_49449064 | 49329544 | AATATATA others(21): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02922.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0272 a0001c0001t0004g0008 a0001c0001t0004g0271 |
3 | 172 | 0.0174 | -28 | c.834 others(45): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 10/10 | chr13 | TogoVar | |||||||
CABCOCO1_chr10_61657929_61771766 | 61680450 | TTATATAT others(21): Show |
T | intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0115 | 1 | 372 | 0.0027 | -28 | c.165 others(43): Show |
CABCOCO1 | ENSG00000183346.9 | transcript | ENST00000648843.3 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CABIN1_chr22_24006304_24183628 | 24011076 | AACACACA others(21): Show |
A | upstream_gene_variant | MODIFIER | HG04184.hp2 NA18942.hp1 NA18959.hp1 |
a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0262 a0001c0010t0001g0263 a0001c0010t0001g0264 |
3 | 201 | 0.0149 | -28 | c.-36 others(37): Show |
CABIN1 | ENSG00000099991.18 | transcript | ENST00000263119.10 | protein_coding | 227 | chr22 | TogoVar | |||||||
CABIN1_chr22_24006304_24183628 | 24011141 | GCGCGCAC others(21): Show |
G | upstream_gene_variant | MODIFIER | HG01358.hp1 HG06807.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0128 a0001c0003t0001g0142 |
2 | 232 | 0.0086 | -28 | c.-30 others(37): Show |
CABIN1 | ENSG00000099991.18 | transcript | ENST00000263119.10 | protein_coding | 162 | chr22 | TogoVar | |||||||
CABS1_chr4_70329981_70342116 | 70334330 | AAAAAAAA others(21): Show |
A | upstream_gene_variant | MODIFIER | HG00544.hp2 HG00609.hp2 HG00621.hp2 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0004 others(1): Show |
32 | 444 | 0.0721 | -28 | c.-70 others(37): Show |
CABS1 | ENSG00000145309.6 | transcript | ENST00000273936.6 | protein_coding | 650 | chr4 | TogoVar | |||||||
CACHD1_chr1_64465129_64698053 | 64466218 | ATATATAC others(21): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp1 HG01515.hp1 HG02293.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0071 a0001c0001t0001g0100 a0001c0001t0002g0118 others(4): Show |
7 | 101 | 0.0693 | -28 | c.-45 others(39): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 3910 | chr1 | TogoVar | |||||||
CACHD1_chr1_64465129_64698053 | 64466299 | CGTGTATA others(21): Show |
C | upstream_gene_variant | MODIFIER | HG01255.hp1 HG01258.hp1 HG02559.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0012a0001c0002t0001others(1): Show | a0001c0001t0001g0025 a0001c0001t0001g0049 a0001c0001t0001g0082 others(7): Show |
10 | 164 | 0.0610 | -28 | c.-44 others(39): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 3829 | chr1 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13216647 | TTATCTAT others(21): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(185): Show |
a0001a0002a0003others(35): Show | a0001c0001a0001c0004a0001c0005others(106): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0015others(116): Show | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0022 others(185): Show |
188 | 194 | 0.9691 | -28 | c.573 others(47): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 38/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13346616 | TTATATAT others(21): Show |
T | intron_variant | MODIFIER | HG03831.hp1 | a0007 | a0007c0008 | a0007c0008t0002 | a0007c0008t0002g0051 | 1 | 193 | 0.0052 | -28 | c.979 others(47): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 6/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13346642 | ATATATAT others(21): Show |
A | intron_variant | MODIFIER | HG01106.hp1 HG01993.hp2 |
a0012a0025 | a0012c0023a0025c0064 | a0012c0023t0002a0025c0064t0001 | a0012c0023t0002g0164 a0025c0064t0001g0100 |
2 | 187 | 0.0107 | -28 | c.979 others(47): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 6/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13346644 | ATATATAT others(21): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG02273.hp2 NA18975.hp1 others(1): Show |
a0003a0012a0040 | a0003c0116a0012c0023a0012c0065others(1): Show | a0003c0116t0004a0012c0023t0002a0012c0065t0006others(1): Show | a0003c0116t0004g0111 a0012c0023t0002g0187 a0012c0065t0006g0067 others(1): Show |
4 | 198 | 0.0202 | -28 | c.979 others(47): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 6/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13406465 | TTATATAT others(21): Show |
T | intron_variant | MODIFIER | HG02723.hp2 HG02970.hp2 HG03225.hp2 others(1): Show |
a0001a0004 | a0001c0016a0001c0071a0004c0093 | a0001c0016t0001a0001c0071t0003a0004c0093t0001 | a0001c0016t0001g0047 a0001c0016t0001g0076 a0001c0071t0003g0138 others(1): Show |
4 | 85 | 0.0471 | -28 | c.540 others(47): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13497503 | AAAAAAAA others(21): Show |
A | intron_variant | MODIFIER | HG02280.hp1 | a0016 | a0016c0040 | a0016c0040t0001 | a0016c0040t0001g0008 | 1 | 213 | 0.0047 | -28 | c.293 others(45): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13497517 | AAAAAATA others(21): Show |
A | intron_variant | MODIFIER | HG04184.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0142 | 1 | 199 | 0.0050 | -28 | c.293 others(45): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13497519 | AAAATATA others(21): Show |
A | intron_variant | MODIFIER | HG01070.hp2 | a0005 | a0005c0066 | a0005c0066t0001 | a0005c0066t0001g0024 | 1 | 199 | 0.0050 | -28 | c.293 others(45): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | |||||||
CACNA1C_chr12_2047987_2702950 | 2277354 | GACAGACA others(21): Show |
G | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0036 | a0001c0036t0007 | a0001c0036t0007g0100 | 1 | 94 | 0.0106 | -28 | c.477 others(49): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2358251 | CTGTGTGT others(21): Show |
C | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0086 | 1 | 3 | 0.3333 | -28 | c.478 others(47): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53517194 | TCTAATCC others(21): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(168): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(97): Show | a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0136 others(168): Show |
171 | 208 | 0.8221 | -28 | c.483 others(47): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 3/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D2_chr3_50357613_50508634 | 50468379 | TAGTGTGT others(21): Show |
T | intron_variant | MODIFIER | HG02486.hp2 HG02559.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0149 a0001c0001t0006g0006 a0001c0001t0006g0007 |
3 | 213 | 0.0141 | -28 | c.288 others(45): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | TogoVar |