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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CA1_chr8_85322608_85383113 | 85338632 | T | TTTTCTTT others(13): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0141 | 1 | 324 | 0.0031 | 20 | c.38- others(33): Show |
CA1 | ENSG00000133742.14 | transcript | ENST00000523022.6 | protein_coding | 2/7 | chr8 | TogoVar | ||||||
CA4_chr17_60144973_60164546 | 60164188 | C | CTTTTTCT others(13): Show |
downstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 380 | 0.0026 | 20 | c.*47 others(31): Show |
CA4 | ENSG00000167434.10 | transcript | ENST00000300900.9 | protein_coding | 4643 | chr17 | TogoVar | ||||||
CA5A_chr16_87883013_87941529 | 87937767 | T | TTTTCTTT others(13): Show |
upstream_gene_variant | MODIFIER | HG02165.hp2 HG02258.hp1 HG02630.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005others(1): Show | a0001c0001t0001a0001c0002t0002a0002c0005t0001others(1): Show | a0001c0001t0001g0026a0001c0001t0001g0060a0001c0001t0001g0386others(6): Show | 9 | 400 | 0.0225 | 20 | c.-13 others(31): Show |
CA5A | ENSG00000174990.8 | transcript | ENST00000649794.3 | protein_coding | 1239 | chr16 | TogoVar | ||||||
CA5A_chr16_87883013_87941529 | 87938807 | C | CTCATTCA others(13): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00609.hp1 HG00609.hp2 others(44): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0079a0001c0001t0001g0235a0001c0001t0001g0236others(44): Show | 47 | 400 | 0.1175 | 20 | c.-23 others(31): Show |
CA5A | ENSG00000174990.8 | transcript | ENST00000649794.3 | protein_coding | 2279 | chr16 | TogoVar | ||||||
CA5A_chr16_87883013_87941529 | 87939963 | C | CGATAGAT others(13): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(56): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(7): Show | a0001c0001t0001g0043a0001c0001t0001g0045a0001c0001t0001g0046others(56): Show | 59 | 400 | 0.1475 | 20 | c.-35 others(31): Show |
CA5A | ENSG00000174990.8 | transcript | ENST00000649794.3 | protein_coding | 3435 | chr16 | TogoVar | ||||||
CA6_chr1_8940868_8980092 | 8960789 | C | CACACACA others(13): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02895.hp1 |
a0009 | a0009c0010 | a0009c0010t0001 | a0009c0010t0001g0311a0009c0010t0001g0427 | 2 | 452 | 0.0044 | 20 | c.501 others(37): Show |
CA6 | ENSG00000131686.15 | transcript | ENST00000377443.7 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CA6_chr1_8940868_8980092 | 8960789 | C | CACACACA others(13): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00639.hp1 HG01257.hp1 others(9): Show |
a0002a0003 | a0002c0001a0003c0003 | a0002c0001t0001a0003c0003t0001a0003c0003t0005 | a0002c0001t0001g0127a0002c0001t0001g0241a0002c0001t0001g0244others(9): Show | 12 | 452 | 0.0266 | 20 | c.501 others(37): Show |
CA6 | ENSG00000131686.15 | transcript | ENST00000377443.7 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CA6_chr1_8940868_8980092 | 8977700 | A | AAAAGAAA others(13): Show |
downstream_gene_variant | MODIFIER | HG02559.hp1 HG02723.hp1 HG03491.hp1 others(4): Show |
a0001a0002a0003others(2): Show | a0001c0002a0002c0015a0003c0034others(2): Show | a0001c0002t0001a0002c0015t0001a0003c0034t0001others(2): Show | a0001c0002t0001g0234a0001c0002t0001g0259a0001c0002t0001g0401others(4): Show | 7 | 452 | 0.0155 | 20 | c.*29 others(31): Show |
CA6 | ENSG00000131686.15 | transcript | ENST00000377443.7 | protein_coding | 2609 | chr1 | TogoVar | ||||||
CA8_chr8_60180412_60286400 | 60190957 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0003 | a0001c0003t0012 | a0001c0003t0012g0021 | 1 | 344 | 0.0029 | 20 | c.*36 others(35): Show |
CA8 | ENSG00000178538.10 | transcript | ENST00000317995.5 | protein_coding | 8/8 | chr8 | TogoVar | ||||||
CAAP1_chr9_26835685_26897802 | 26871914 | A | AAAATAAA others(13): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02451.hp2 HG02572.hp2 others(2): Show |
a0002 | a0002c0003a0002c0007 | a0002c0003t0001a0002c0007t0011 | a0002c0003t0001g0020a0002c0003t0001g0021a0002c0003t0001g0023others(2): Show | 5 | 372 | 0.0134 | 20 | c.666 others(39): Show |
CAAP1 | ENSG00000120159.13 | transcript | ENST00000333916.8 | protein_coding | 4/5 | chr9 | TogoVar | ||||||
CAAP1_chr9_26835685_26897802 | 26872553 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03471.hp1 NA18906.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0018a0002c0003t0001g0029a0002c0003t0001g0031 | 3 | 372 | 0.0081 | 20 | c.666 others(39): Show |
CAAP1 | ENSG00000120159.13 | transcript | ENST00000333916.8 | protein_coding | 4/5 | chr9 | TogoVar | ||||||
CAB39L_chr13_49303650_49449064 | 49346100 | G | GATATATA others(13): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01192.hp2 HG01928.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(3): Show | a0001c0001t0001g0312a0001c0001t0003g0041a0001c0002t0001g0068others(16): Show | 19 | 324 | 0.0586 | 20 | c.565 others(37): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 7/10 | chr13 | TogoVar | ||||||
CAB39L_chr13_49303650_49449064 | 49376891 | G | GTAGATAG others(13): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00639.hp1 others(67): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0049a0001c0001t0001g0051a0001c0001t0001g0084others(67): Show | 70 | 324 | 0.2161 | 20 | c.276 others(33): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 5/10 | chr13 | TogoVar | ||||||
CAB39L_chr13_49303650_49449064 | 49405719 | G | GAGAGAGG others(13): Show |
intron_variant | MODIFIER | HG02280.hp1 NA18906.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0004 | a0001c0001t0006g0135a0001c0002t0004g0207 | 2 | 324 | 0.0062 | 20 | c.-31 others(39): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 3/10 | chr13 | TogoVar | ||||||
CAB39L_chr13_49303650_49449064 | 49441219 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0269 | 1 | 324 | 0.0031 | 20 | c.-24 others(39): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 1/10 | chr13 | TogoVar | ||||||
CAB39L_chr13_49303650_49449064 | 49441221 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02622.hp1 HG02922.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0002t0001others(1): Show | a0001c0001t0002g0113a0001c0001t0002g0317a0001c0001t0004g0293others(2): Show | 5 | 324 | 0.0154 | 20 | c.-24 others(39): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 1/10 | chr13 | TogoVar | ||||||
CAB39_chr2_230707842_230826075 | 230748825 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0329 | 1 | 342 | 0.0029 | 20 | c.-43 others(39): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CAB39_chr2_230707842_230826075 | 230748831 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0303 | 1 | 342 | 0.0029 | 20 | c.-43 others(39): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CAB39_chr2_230707842_230826075 | 230748831 | A | AAAATATA others(13): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0274 | 1 | 342 | 0.0029 | 20 | c.-43 others(39): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CAB39_chr2_230707842_230826075 | 230773312 | A | ATGTGTGT others(13): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0064 | a0001c0001t0064g0183 | 1 | 342 | 0.0029 | 20 | c.114 others(39): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CAB39_chr2_230707842_230826075 | 230782809 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | NA18943.hp1 NA18993.hp1 NA19082.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0214a0001c0001t0003g0220a0001c0001t0003g0221 | 3 | 342 | 0.0088 | 20 | c.115 others(37): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CAB39_chr2_230707842_230826075 | 230783442 | A | AGTTTTGT others(13): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00639.hp2 HG00642.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0261a0001c0001t0001g0266a0001c0001t0001g0287others(12): Show | 15 | 342 | 0.0439 | 20 | c.115 others(37): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CABCOCO1_chr10_61657929_61771766 | 61669020 | G | GAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01109.hp1 NA19240.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0010a0001c0002t0001g0081 | 2 | 374 | 0.0054 | 20 | c.61- others(35): Show |
CABCOCO1 | ENSG00000183346.9 | transcript | ENST00000648843.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CABCOCO1_chr10_61657929_61771766 | 61680695 | T | TATATGTT others(13): Show |
intron_variant | MODIFIER | HG03098.hp2 NA19060.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193a0001c0001t0001g0288 | 2 | 374 | 0.0054 | 20 | c.165 others(35): Show |
CABCOCO1 | ENSG00000183346.9 | transcript | ENST00000648843.3 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CABCOCO1_chr10_61657929_61771766 | 61720917 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0012a0001c0002t0006g0014 | 2 | 374 | 0.0054 | 20 | c.552 others(39): Show |
CABCOCO1 | ENSG00000183346.9 | transcript | ENST00000648843.3 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CABIN1_chr22_24006304_24183628 | 24011117 | A | ACACACAC others(13): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0021 | 1 | 268 | 0.0037 | 20 | c.-32 others(29): Show |
CABIN1 | ENSG00000099991.18 | transcript | ENST00000263119.10 | protein_coding | 186 | chr22 | TogoVar | ||||||
CABIN1_chr22_24006304_24183628 | 24042818 | C | CTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG03654.hp1 NA18939.hp2 NA18961.hp1 others(1): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0014others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0014t0001others(1): Show | a0001c0001t0001g0099a0001c0003t0001g0144a0001c0014t0001g0143others(1): Show | 4 | 268 | 0.0149 | 20 | c.346 others(33): Show |
CABIN1 | ENSG00000099991.18 | transcript | ENST00000263119.10 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CABIN1_chr22_24006304_24183628 | 24136524 | A | ATTTTTTT others(13): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02717.hp2 |
a0008 | a0008c0015 | a0008c0015t0001 | a0008c0015t0001g0265a0008c0015t0001g0266 | 2 | 268 | 0.0075 | 20 | c.474 others(39): Show |
CABIN1 | ENSG00000099991.18 | transcript | ENST00000263119.10 | protein_coding | 29/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CABLES1_chr18_23130485_23265470 | 23188543 | T | TTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01981.hp2 HG04115.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0019 | a0001c0001t0001g0058a0001c0001t0001g0061a0002c0002t0019g0119 | 3 | 278 | 0.0108 | 20 | c.846 others(35): Show |
CABLES1 | ENSG00000134508.13 | transcript | ENST00000256925.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CABLES2_chr20_62383634_62412285 | 62399240 | A | ATATTTTA others(13): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00741.hp1 HG00741.hp2 others(22): Show |
a0001a0005 | a0001c0005a0001c0011a0005c0014 | a0001c0005t0004a0001c0011t0004a0005c0014t0015 | a0001c0005t0004g0012a0001c0005t0004g0015a0001c0005t0004g0026others(9): Show | 25 | 400 | 0.0625 | 20 | c.363 others(37): Show |
CABLES2 | ENSG00000149679.12 | transcript | ENST00000279101.10 | protein_coding | 1/9 | chr20 | TogoVar | ||||||
CABP5_chr19_48024383_48049079 | 48029794 | C | CAGAGAGA others(13): Show |
3_prime_UTR_variant | MODIFIER | HG01346.hp1 HG02735.hp2 |
a0002 | a0002c0003 | a0002c0003t0024 | a0002c0003t0024g0062a0002c0003t0024g0064 | 2 | 376 | 0.0053 | 20 | c.*76 others(29): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 6/6 | 762 | chr19 | TogoVar | |||||
CABP5_chr19_48024383_48049079 | 48029798 | C | CAGAGAGA others(13): Show |
3_prime_UTR_variant | MODIFIER | HG01192.hp2 HG01891.hp2 HG02683.hp1 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0005a0002c0003a0003c0004others(1): Show | a0001c0005t0059a0002c0003t0026a0003c0004t0071others(1): Show | a0001c0005t0059g0185a0002c0003t0026g0063a0002c0003t0026g0066others(2): Show | 5 | 376 | 0.0133 | 20 | c.*73 others(29): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 6/6 | 758 | chr19 | TogoVar | |||||
CABP5_chr19_48024383_48049079 | 48029828 | G | GAGAGAGA others(13): Show |
3_prime_UTR_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0246 | 1 | 376 | 0.0027 | 20 | c.*72 others(29): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 6/6 | 728 | chr19 | TogoVar | |||||
CABP5_chr19_48024383_48049079 | 48041155 | C | CAGCCTGG others(13): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 376 | 0.0027 | 20 | c.94+ others(33): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 2/5 | chr19 | TogoVar | ||||||
CABS1_chr4_70329981_70342116 | 70340742 | C | CTATTTAT others(13): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 HG01167.hp2 HG01496.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0002t0001g0002 | 4 | 446 | 0.0090 | 20 | c.*38 others(31): Show |
CABS1 | ENSG00000145309.6 | transcript | ENST00000273936.6 | protein_coding | 3627 | chr4 | TogoVar | ||||||
CACFD1_chr9_133454978_133475848 | 133460468 | G | GCGGCGGG others(13): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0086 | 1 | 420 | 0.0024 | 20 | c.121 others(35): Show |
CACFD1 | ENSG00000160325.15 | transcript | ENST00000316948.9 | protein_coding | 1/4 | chr9 | TogoVar | ||||||
CACHD1_chr1_64465129_64698053 | 64543402 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03486.hp1 NA21309.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0011a0001c0002t0001a0001c0002t0004 | a0001c0001t0011g0029a0001c0002t0001g0102a0001c0002t0004g0166 | 3 | 166 | 0.0181 | 20 | c.199 others(37): 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(13): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02280.hp1 HG02486.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0015a0001c0002t0001a0001c0002t0004others(1): Show | a0001c0001t0015g0048a0001c0002t0001g0031a0001c0002t0004g0030others(1): Show | 4 | 166 | 0.0241 | 20 | c.517 others(37): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CACNA1A_chr19_13201442_13511479 | 13202316 | C | CTATCTAT others(13): Show |
downstream_gene_variant | MODIFIER | HG01192.hp2 HG01934.hp1 HG02055.hp1 others(14): Show |
a0001a0003a0005others(6): Show | a0001c0005a0001c0006a0001c0126others(12): Show | a0001c0005t0004a0001c0005t0010a0001c0006t0009others(14): Show | a0001c0005t0004g0201a0001c0005t0010g0202a0001c0006t0009g0189others(14): Show | 17 | 218 | 0.0780 | 20 | c.*49 others(31): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 4125 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13212827 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0003 | a0003c0108 | a0003c0108t0012 | a0003c0108t0012g0211 | 1 | 218 | 0.0046 | 20 | c.594 others(36): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 40/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13255705 | T | TTCCCTCC others(13): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00639.hp1 HG00738.hp1 others(41): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0004a0001c0005others(29): Show | a0001c0001t0001a0001c0004t0001a0001c0005t0004others(38): Show | a0001c0001t0001g0182a0001c0004t0001g0080a0001c0004t0001g0097others(41): Show | 44 | 218 | 0.2018 | 20 | c.459 others(37): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 28/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13255725 | C | CTCCTTCC others(13): Show |
intron_variant | MODIFIER | HG02451.hp2 HG03195.hp2 |
a0018 | a0018c0017 | a0018c0017t0014 | a0018c0017t0014g0212a0018c0017t0014g0216 | 2 | 218 | 0.0092 | 20 | c.459 others(37): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 28/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13294487 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0020 | a0001c0020t0001 | a0001c0020t0001g0051 | 1 | 218 | 0.0046 | 20 | c.308 others(39): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 19/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13310485 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | HG02622.hp1 NA18979.hp1 |
a0010a0019 | a0010c0128a0019c0109 | a0010c0128t0010a0019c0109t0005 | a0010c0128t0010g0139a0019c0109t0005g0198 | 2 | 218 | 0.0092 | 20 | c.166 others(39): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 12/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13310487 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | HG03688.hp1 HG03704.hp2 NA19000.hp1 others(2): Show |
a0001a0003a0020others(1): Show | a0001c0034a0003c0013a0003c0110others(2): Show | a0001c0034t0001a0003c0013t0007a0003c0110t0006others(2): Show | a0001c0034t0001g0068a0003c0013t0007g0041a0003c0110t0006g0137others(2): Show | 5 | 218 | 0.0229 | 20 | c.166 others(39): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 12/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13310489 | A | AAAATATA others(13): Show |
intron_variant | MODIFIER | HG02056.hp2 HG02129.hp2 NA20905.hp2 |
a0002a0007 | a0002c0002a0007c0009 | a0002c0002t0002a0007c0009t0003 | a0002c0002t0002g0130a0007c0009t0003g0031a0007c0009t0003g0069 | 3 | 218 | 0.0138 | 20 | c.166 others(39): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 12/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13318890 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01978.hp2 HG02040.hp1 others(9): Show |
a0001a0005a0013others(3): Show | a0001c0001a0001c0005a0001c0026others(7): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0005others(8): Show | a0001c0001t0001g0030a0001c0005t0001g0187a0001c0005t0005g0135others(9): Show | 12 | 218 | 0.0551 | 20 | c.134 others(39): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 10/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13336594 | G | GGAGAGAG others(13): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00609.hp2 HG00735.hp1 others(8): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0020a0001c0026others(7): Show | a0001c0001t0001a0001c0020t0001a0001c0026t0001others(8): Show | a0001c0001t0001g0115a0001c0020t0001g0188a0001c0026t0001g0144others(8): Show | 11 | 218 | 0.0505 | 20 | c.979 others(35): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 6/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13413893 | G | GAGAAAGA others(13): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0016 | a0001c0016t0004 | a0001c0016t0004g0047 | 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 | 13413895 | A | AAAAGAAA others(13): Show |
intron_variant | MODIFIER | HG02083.hp2 HG02615.hp2 HG02622.hp1 others(9): Show |
a0001a0002a0003others(4): Show | a0001c0005a0001c0031a0001c0034others(9): Show | a0001c0005t0047a0001c0031t0013a0001c0034t0001others(9): Show | a0001c0005t0047g0024a0001c0031t0013g0123a0001c0034t0001g0068others(9): Show | 12 | 218 | 0.0551 | 20 | c.539 others(39): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar |