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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CADM4_chr19_43617368_43644850 | 43623577 | AGGCAGAG others(15): Show |
A | intron_variant | MODIFIER | NA18975.hp1 NA18994.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009 | a0001c0001t0004g0178a0001c0001t0009g0177 | 2 | 424 | 0.0047 | -22 | c.105 others(39): Show |
CADM4 | ENSG00000105767.3 | transcript | ENST00000222374.3 | protein_coding | 8/8 | chr19 | TogoVar | ||||||
CADPS2_chr7_122313411_122891460 | 122399660 | CTTTTTTT others(15): Show |
C | intron_variant | MODIFIER | HG01070.hp2 HG01257.hp2 HG01975.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0002others(4): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0075others(8): Show | 11 | 126 | 0.0873 | -22 | c.274 others(41): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 20/29 | chr7 | TogoVar | ||||||
CADPS2_chr7_122313411_122891460 | 122708520 | GATATATA others(15): Show |
G | intron_variant | MODIFIER | HG01070.hp1 HG02280.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0002 | a0001c0001t0003g0022a0001c0002t0002g0057 | 2 | 126 | 0.0159 | -22 | c.453 others(41): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 2/29 | chr7 | TogoVar | ||||||
CADPS2_chr7_122313411_122891460 | 122774269 | TACACACA others(15): Show |
T | intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0045 | 1 | 126 | 0.0079 | -22 | c.340 others(41): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 1/29 | chr7 | TogoVar | ||||||
CADPS_chr3_62393348_62880416 | 62596088 | TACACACA others(15): Show |
T | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0150 | 1 | 160 | 0.0063 | -22 | c.132 others(41): Show |
CADPS | ENSG00000163618.18 | transcript | ENST00000383710.9 | protein_coding | 6/29 | chr3 | TogoVar | ||||||
CALCOCO2_chr17_48826035_48870245 | 48845371 | CTGTGTGT others(15): Show |
C | intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 | 1 | 328 | 0.0031 | -22 | c.181 others(39): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CALCOCO2_chr17_48826035_48870245 | 48858024 | GAATAGAA others(15): Show |
G | intron_variant | MODIFIER | HG02559.hp2 HG02809.hp1 HG03017.hp1 |
a0004 | a0004c0004 | a0004c0004t0005a0004c0004t0016 | a0004c0004t0005g0108a0004c0004t0005g0115a0004c0004t0016g0092 | 3 | 328 | 0.0092 | -22 | c.100 others(41): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CALCRL_chr2_187336964_187453252 | 187341096 | CATATATA others(15): Show |
C | downstream_gene_variant | MODIFIER | HG00558.hp1 HG01257.hp1 HG01928.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0169a0001c0001t0002g0245a0001c0001t0002g0279others(10): Show | 13 | 344 | 0.0378 | -22 | c.*50 others(33): Show |
CALCRL | ENSG00000064989.13 | transcript | ENST00000392370.8 | protein_coding | 867 | chr2 | TogoVar | ||||||
CALCRL_chr2_187336964_187453252 | 187442085 | TATATATA others(15): Show |
T | intron_variant | MODIFIER | HG03098.hp2 HG06807.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0009 | a0001c0001t0001g0297a0002c0003t0009g0298 | 2 | 344 | 0.0058 | -22 | c.-29 others(41): Show |
CALCRL | ENSG00000064989.13 | transcript | ENST00000392370.8 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
CALCR_chr7_93419486_93579724 | 93568509 | TTCTCTCT others(15): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00621.hp1 HG00642.hp1 others(20): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0003a0001c0001t0008a0001c0001t0015others(9): Show | a0001c0001t0003g0026a0001c0001t0008g0009a0001c0001t0015g0008others(19): Show | 23 | 292 | 0.0788 | -22 | c.-27 others(39): Show |
CALCR | ENSG00000004948.16 | transcript | ENST00000426151.7 | protein_coding | 2/13 | chr7 | TogoVar | ||||||
CALCR_chr7_93419486_93579724 | 93576491 | TACACACA others(15): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(18): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0013others(8): Show | a0001c0001t0001g0277a0001c0001t0001g0278a0001c0001t0008g0009others(18): Show | 21 | 292 | 0.0719 | -22 | c.-20 others(33): Show |
CALCR | ENSG00000004948.16 | transcript | ENST00000426151.7 | protein_coding | 1768 | chr7 | TogoVar | ||||||
CALD1_chr7_134774634_134975729 | 134958872 | AATATATA others(15): Show |
A | intron_variant | MODIFIER | HG00639.hp2 | a0009 | a0009c0010 | a0009c0010t0002 | a0009c0010t0002g0163 | 1 | 262 | 0.0038 | -22 | c.206 others(39): Show |
CALD1 | ENSG00000122786.20 | transcript | ENST00000361675.7 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CALHM5_chr6_116506639_116529788 | 116516660 | AATATATA others(15): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00544.hp2 HG02109.hp2 HG02717.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0065a0001c0001t0097others(1): Show | a0001c0001t0007g0003a0001c0001t0065g0004a0001c0001t0097g0009others(1): Show | 10 | 402 | 0.0249 | -22 | c.*69 others(31): Show |
CALHM5 | ENSG00000178033.6 | transcript | ENST00000368599.4 | protein_coding | 2/2 | 699 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||
CALM2_chr2_47155084_47181511 | 47164347 | AACACACA others(15): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(308): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(270): Show | 311 | 432 | 0.7199 | -22 | c.35- others(37): Show |
CALM2 | ENSG00000143933.20 | transcript | ENST00000272298.12 | protein_coding | 2/5 | chr2 | TogoVar | ||||||
CALM2_chr2_47155084_47181511 | 47164366 | ACACACAC others(15): Show |
A | intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 432 | 0.0023 | -22 | c.35- others(37): Show |
CALM2 | ENSG00000143933.20 | transcript | ENST00000272298.12 | protein_coding | 2/5 | chr2 | TogoVar | ||||||
CALM3_chr19_46596330_46615782 | 46613027 | CTTTTTTT others(15): Show |
C | downstream_gene_variant | MODIFIER | NA18967.hp2 NA18977.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011 | a0001c0001t0002g0004a0001c0001t0011g0004 | 2 | 422 | 0.0047 | -22 | c.*38 others(33): Show |
CALM3 | ENSG00000160014.17 | transcript | ENST00000291295.14 | protein_coding | 2246 | chr19 | TogoVar | ||||||
CALML5_chr10_5493697_5504570 | 5498012 | CACACAGA others(15): Show |
C | downstream_gene_variant | MODIFIER | HG02129.hp1 HG03654.hp2 HG04184.hp1 others(8): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0001a0003c0003t0002 | a0001c0001t0002g0000a0003c0003t0001g0000a0003c0003t0002g0000 | 11 | 444 | 0.0248 | -22 | c.*96 others(31): Show |
CALML5 | ENSG00000178372.8 | transcript | ENST00000380332.5 | protein_coding | 684 | chr10 | TogoVar | ||||||
CALN1_chr7_71774491_72417338 | 71798067 | GAGAGAGA others(15): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG02015.hp2 HG02300.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(3): Show | a0001c0001t0001g0075a0001c0001t0002g0085a0001c0001t0002g0095others(6): Show | 9 | 142 | 0.0634 | -22 | c.659 others(41): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 6/6 | chr7 | TogoVar | ||||||
CALN1_chr7_71774491_72417338 | 71798123 | CAGAGAGA others(15): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG02015.hp1 HG02735.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043a0001c0001t0001g0049a0001c0001t0001g0105 | 3 | 142 | 0.0211 | -22 | c.659 others(41): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 6/6 | chr7 | TogoVar | ||||||
CALN1_chr7_71774491_72417338 | 71897996 | AGAGAGAG others(15): Show |
A | intron_variant | MODIFIER | HG02818.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0039 | a0001c0001t0008g0067a0001c0001t0039g0030 | 2 | 142 | 0.0141 | -22 | c.502 others(41): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 5/6 | chr7 | TogoVar | ||||||
CALN1_chr7_71774491_72417338 | 71971947 | AAAAAAAA others(15): Show |
A | intron_variant | MODIFIER | HG02622.hp1 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0017 | a0001c0001t0009g0029a0001c0001t0017g0028 | 2 | 142 | 0.0141 | -22 | c.501 others(41): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 5/6 | chr7 | TogoVar | ||||||
CALN1_chr7_71774491_72417338 | 72076611 | CAAAAAAA others(15): Show |
C | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0002 | 1 | 142 | 0.0070 | -22 | c.388 others(41): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 4/6 | chr7 | TogoVar | ||||||
CALN1_chr7_71774491_72417338 | 72111060 | TCTGGTGC others(15): Show |
T | intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0098 | 1 | 142 | 0.0070 | -22 | c.245 others(39): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | ||||||
CALN1_chr7_71774491_72417338 | 72203979 | CTTTTTTT others(15): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01433.hp2 NA19043.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0022a0001c0001t0039others(1): Show | a0001c0001t0008g0027a0001c0001t0022g0001a0001c0001t0039g0030others(1): Show | 4 | 142 | 0.0282 | -22 | c.244 others(41): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | ||||||
CALN1_chr7_71774491_72417338 | 72290079 | TAAAAAAA others(15): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG01168.hp1 HG03704.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0021a0001c0001t0022others(2): Show | a0001c0001t0001g0034a0001c0001t0021g0068a0001c0001t0022g0001others(2): Show | 5 | 142 | 0.0352 | -22 | c.120 others(41): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 2/6 | chr7 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12691356 | TATATATA others(15): Show |
T | intron_variant | MODIFIER | HG02080.hp2 HG02132.hp2 HG02165.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0029others(2): Show | a0001c0001t0001g0046a0001c0001t0001g0095a0001c0001t0006g0073others(3): Show | 6 | 214 | 0.0280 | -22 | c.299 others(41): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CAMK1D_chr10_12344547_12840545 | 12734441 | CACATATG others(15): Show |
C | intron_variant | MODIFIER | HG01106.hp2 HG02622.hp2 HG02976.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0036a0001c0001t0111a0001c0002t0010others(1): Show | a0001c0001t0036g0022a0001c0001t0111g0028a0001c0002t0010g0209others(1): Show | 4 | 214 | 0.0187 | -22 | c.300 others(41): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CAMK1D_chr10_12344547_12840545 | 12734452 | ATATATAC others(15): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG03209.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0091a0001c0001t0113 | a0001c0001t0019g0086a0001c0001t0091g0030a0001c0001t0113g0034 | 3 | 214 | 0.0140 | -22 | c.300 others(41): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CAMK2D_chr4_113446032_113766738 | 113462278 | GTGTGTGT others(15): Show |
G | intron_variant | MODIFIER | HG03041.hp2 HG03209.hp1 HG04115.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0016a0001c0001t0017a0001c0003t0005 | a0001c0001t0016g0011a0001c0001t0017g0089a0001c0003t0005g0116others(1): Show | 4 | 278 | 0.0144 | -22 | c.121 others(41): Show |
CAMK2D | ENSG00000145349.20 | transcript | ENST00000511664.6 | protein_coding | 17/20 | chr4 | TogoVar | ||||||
CAMK2D_chr4_113446032_113766738 | 113735289 | GAAAAAAA others(15): Show |
G | intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0097 | 1 | 278 | 0.0036 | -22 | c.160 others(41): Show |
CAMK2D | ENSG00000145349.20 | transcript | ENST00000511664.6 | protein_coding | 2/20 | chr4 | TogoVar | ||||||
CAMK2N1_chr1_20477391_20491210 | 20490514 | CCACACAC others(15): Show |
C | upstream_gene_variant | MODIFIER | HG00741.hp1 HG01175.hp1 HG01175.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0031a0001c0001t0002g0022a0001c0001t0005g0030others(2): Show | 6 | 422 | 0.0142 | -22 | c.-51 others(33): Show |
CAMK2N1 | ENSG00000162545.6 | transcript | ENST00000375078.4 | protein_coding | 4305 | chr1 | TogoVar | ||||||
CAMK2N2_chr3_184254213_184266553 | 184263637 | AAGAGAGA others(15): Show |
A | upstream_gene_variant | MODIFIER | HG00639.hp2 HG02486.hp1 HG02486.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0004 | a0001c0001t0004g0014a0001c0002t0004g0005 | 10 | 380 | 0.0263 | -22 | c.-23 others(33): Show |
CAMK2N2 | ENSG00000163888.4 | transcript | ENST00000296238.4 | protein_coding | 2085 | chr3 | TogoVar | ||||||
CAMK4_chr5_111219384_111499886 | 111273698 | TATATATA others(15): Show |
T | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0120 | a0001c0001t0120g0035 | 1 | 246 | 0.0041 | -22 | c.161 others(41): Show |
CAMK4 | ENSG00000152495.11 | transcript | ENST00000282356.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CAMK4_chr5_111219384_111499886 | 111443265 | TATATATA others(15): Show |
T | intron_variant | MODIFIER | HG03453.hp2 NA19043.hp2 |
a0001 | a0001c0004 | a0001c0004t0066a0001c0004t0094 | a0001c0004t0066g0193a0001c0004t0094g0222 | 2 | 246 | 0.0081 | -22 | c.460 others(39): Show |
CAMK4 | ENSG00000152495.11 | transcript | ENST00000282356.9 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CAMK4_chr5_111219384_111499886 | 111443267 | TATATATA others(15): Show |
T | intron_variant | MODIFIER | HG02280.hp2 HG02559.hp1 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0170a0003c0005t0157 | a0001c0001t0170g0235a0003c0005t0157g0041 | 2 | 246 | 0.0081 | -22 | c.460 others(39): Show |
CAMK4 | ENSG00000152495.11 | transcript | ENST00000282356.9 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CAMK4_chr5_111219384_111499886 | 111443269 | TATATATA others(15): Show |
T | intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0002 | a0001c0002t0092 | a0001c0002t0092g0109 | 1 | 246 | 0.0041 | -22 | c.460 others(39): Show |
CAMK4 | ENSG00000152495.11 | transcript | ENST00000282356.9 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CAMK4_chr5_111219384_111499886 | 111469160 | AAAAAAAA others(15): Show |
A | intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0135 | a0001c0001t0135g0198 | 1 | 246 | 0.0041 | -22 | c.626 others(39): Show |
CAMK4 | ENSG00000152495.11 | transcript | ENST00000282356.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CAMKMT_chr2_44356947_44777592 | 44445645 | GTTTTTTT others(15): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00438.hp2 others(82): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0016a0001c0001t0001g0027a0001c0001t0001g0035others(82): Show | 85 | 198 | 0.4293 | -22 | c.376 others(41): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CAMKMT_chr2_44356947_44777592 | 44546154 | GACACACA others(15): Show |
G | intron_variant | MODIFIER | HG01099.hp1 HG02258.hp2 HG02559.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0120a0001c0001t0001g0144a0001c0001t0002g0109others(4): Show | 7 | 198 | 0.0354 | -22 | c.376 others(43): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CAMLG_chr5_134733548_134757157 | 134755356 | CTTGAGAC others(15): Show |
C | downstream_gene_variant | MODIFIER | HG02809.hp1 HG02895.hp2 HG02897.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 5 | 366 | 0.0137 | -22 | c.*44 others(33): Show |
CAMLG | ENSG00000164615.6 | transcript | ENST00000297156.4 | protein_coding | 3200 | chr5 | TogoVar | ||||||
CAMSAP2_chr1_200733893_200865704 | 200817239 | CATACACA others(15): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp1 others(228): Show |
a0001a0005a0007 | a0001c0001a0001c0002a0001c0011others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(17): Show | a0001c0001t0001g0002a0001c0001t0001g0183a0001c0001t0001g0196others(227): Show | 231 | 366 | 0.6312 | -22 | c.645 others(39): Show |
CAMSAP2 | ENSG00000118200.15 | transcript | ENST00000358823.7 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7102023 | AACACACA others(15): Show |
A | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0025 | 1 | 58 | 0.0172 | -22 | c.302 others(41): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7668411 | ACACACAC others(15): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG02451.hp1 HG02922.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0003a0001c0002t0004others(1): Show | a0001c0001t0005g0038a0001c0002t0003g0025a0001c0002t0004g0030others(1): Show | 4 | 58 | 0.0690 | -22 | c.265 others(41): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CANT1_chr17_78986716_79014764 | 79004127 | AGAGGAGT others(15): Show |
A | intron_variant | MODIFIER | HG02132.hp1 NA19002.hp1 NA19080.hp1 |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0010 | a0001c0003t0002g0095a0001c0003t0010g0093a0001c0003t0010g0096 | 3 | 394 | 0.0076 | -22 | c.-14 others(41): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
CAPG_chr2_85389753_85415366 | 85392211 | AAACCCCG others(15): Show |
A | downstream_gene_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0226 | 1 | 410 | 0.0024 | -22 | c.*26 others(33): Show |
CAPG | ENSG00000042493.16 | transcript | ENST00000263867.9 | protein_coding | 2541 | chr2 | TogoVar | ||||||
CAPN10_chr2_240581734_240604104 | 240589946 | TCCTTACC others(15): Show |
T | intron_variant | MODIFIER | NA18953.hp1 | a0008 | a0008c0013 | a0008c0013t0001 | a0008c0013t0001g0054 | 1 | 412 | 0.0024 | -22 | c.273 others(37): Show |
CAPN10 | ENSG00000142330.20 | transcript | ENST00000391984.7 | protein_coding | 2/11 | chr2 | TogoVar | ||||||
CAPN12_chr19_38725192_38749474 | 38736454 | ACCCCCAG others(15): Show |
A | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0244 | 1 | 342 | 0.0029 | -22 | c.137 others(37): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 11/20 | chr19 | TogoVar | ||||||
CAPN9_chr1_230742388_230806989 | 230751587 | AAGAAAGA others(15): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00558.hp1 others(48): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(9): Show | a0001c0001t0001g0281a0001c0002t0001g0027a0001c0002t0001g0084others(48): Show | 51 | 394 | 0.1294 | -22 | c.214 others(39): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAPN9_chr1_230742388_230806989 | 230765212 | GACACACA others(15): Show |
G | intron_variant | MODIFIER | HG02258.hp2 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0275 | 1 | 394 | 0.0025 | -22 | c.537 others(39): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAPN9_chr1_230742388_230806989 | 230780081 | CGTGTGTG others(15): Show |
C | intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0043 | 1 | 394 | 0.0025 | -22 | c.111 others(37): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 9/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |