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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CALCOCO2_chr17_48826035_48870245 | 48861659 | G | GTATATAT others(25): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02622.hp1 HG02630.hp1 others(2): Show |
a0004 | a0004c0004 | a0004c0004t0005a0004c0004t0011 | a0004c0004t0005g0104 a0004c0004t0005g0105 a0004c0004t0005g0106 others(2): Show |
5 | 102 | 0.0490 | 32 | c.114 others(49): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CALCOCO2_chr17_48826035_48870245 | 48867569 | A | AAAAAAAA others(25): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 HG02486.hp2 HG02559.hp1 others(10): Show |
a0004 | a0004c0004 | a0004c0004t0003a0004c0004t0005a0004c0004t0010others(2): Show | a0004c0004t0003g0074 a0004c0004t0003g0095 a0004c0004t0003g0119 others(10): Show |
13 | 288 | 0.0451 | 32 | c.*45 others(43): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 2325 | chr17 | TogoVar | |||||||
CALCOCO2_chr17_48826035_48870245 | 48867569 | A | AAAAAAAA others(25): Show |
downstream_gene_variant | MODIFIER | HG01515.hp2 HG01517.hp2 HG03927.hp1 |
a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0077 a0004c0004t0003g0078 a0004c0004t0003g0083 |
3 | 278 | 0.0108 | 32 | c.*45 others(43): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 2325 | chr17 | TogoVar | |||||||
CALCR_chr7_93419486_93579724 | 93460589 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0006 | a0001c0006t0009 | a0001c0006t0009g0280 | 1 | 290 | 0.0034 | 32 | c.648 others(47): Show |
CALCR | ENSG00000004948.16 | transcript | ENST00000426151.7 | protein_coding | 8/13 | chr7 | TogoVar | |||||||
CALCR_chr7_93419486_93579724 | 93460595 | A | ATATACAT others(25): Show |
intron_variant | MODIFIER | HG03491.hp1 HG03492.hp1 HG04228.hp1 |
a0001a0003 | a0001c0001a0003c0009 | a0001c0001t0006a0003c0009t0002 | a0001c0001t0006g0242 a0003c0009t0002g0244 a0003c0009t0002g0245 |
3 | 178 | 0.0169 | 32 | c.648 others(47): Show |
CALCR | ENSG00000004948.16 | transcript | ENST00000426151.7 | protein_coding | 8/13 | chr7 | TogoVar | |||||||
CALCR_chr7_93419486_93579724 | 93554769 | G | GTATATAT others(25): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02922.hp1 HG03225.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(2): Show | a0001c0001t0001g0077 a0001c0001t0001g0099 a0001c0001t0001g0122 others(6): Show |
9 | 63 | 0.1429 | 32 | c.-27 others(51): Show |
CALCR | ENSG00000004948.16 | transcript | ENST00000426151.7 | protein_coding | 2/13 | chr7 | TogoVar | |||||||
CALM2_chr2_47155084_47181511 | 47167814 | C | CTTTTTTT others(25): Show |
intron_variant | MODIFIER | HG01981.hp2 HG02080.hp1 HG02155.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0076 others(2): Show |
5 | 66 | 0.0758 | 32 | c.34+ others(47): Show |
CALM2 | ENSG00000143933.20 | transcript | ENST00000272298.12 | protein_coding | 2/5 | chr2 | TogoVar | |||||||
CALML3_chr10_5519961_5531771 | 5521223 | G | GTATATAT others(25): Show |
upstream_gene_variant | MODIFIER | HG00558.hp2 HG02080.hp1 HG02602.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0002a0001c0002t0003 | a0001c0001t0004g0000 a0001c0002t0002g0000 a0001c0002t0003g0000 |
5 | 236 | 0.0212 | 32 | c.-38 others(43): Show |
CALML3 | ENSG00000178363.5 | transcript | ENST00000315238.3 | protein_coding | 3737 | chr10 | TogoVar | |||||||
CALML3_chr10_5519961_5531771 | 5521223 | G | GTGTATAT others(25): Show |
upstream_gene_variant | MODIFIER | HG01255.hp1 HG01928.hp1 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0000 a0001c0001t0013g0000 |
3 | 234 | 0.0128 | 32 | c.-38 others(43): Show |
CALML3 | ENSG00000178363.5 | transcript | ENST00000315238.3 | protein_coding | 3737 | chr10 | TogoVar | |||||||
CALML3_chr10_5519961_5531771 | 5521239 | A | ATATATAT others(25): Show |
upstream_gene_variant | MODIFIER | HG00621.hp1 HG01099.hp2 HG01952.hp1 others(18): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(3): Show | a0001c0001t0001g0000 a0001c0001t0006g0000 a0001c0001t0007g0000 others(3): Show |
21 | 346 | 0.0607 | 32 | c.-38 others(43): Show |
CALML3 | ENSG00000178363.5 | transcript | ENST00000315238.3 | protein_coding | 3721 | chr10 | TogoVar | |||||||
CALML3_chr10_5519961_5531771 | 5521239 | A | ATATATAT others(25): Show |
upstream_gene_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 326 | 0.0031 | 32 | c.-38 others(43): Show |
CALML3 | ENSG00000178363.5 | transcript | ENST00000315238.3 | protein_coding | 3721 | chr10 | TogoVar | |||||||
CALML3_chr10_5519961_5531771 | 5521241 | A | ATATATAT others(25): Show |
upstream_gene_variant | MODIFIER | HG00544.hp1 NA18967.hp2 NA19083.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0003 | a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0002t0003g0000 |
3 | 368 | 0.0082 | 32 | c.-38 others(43): Show |
CALML3 | ENSG00000178363.5 | transcript | ENST00000315238.3 | protein_coding | 3719 | chr10 | TogoVar | |||||||
CALN1_chr7_71774491_72417338 | 71847719 | G | GAAGAAAG others(25): Show |
intron_variant | MODIFIER | NA18948.hp2 NA19002.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012 | a0001c0001t0002g0048 a0001c0001t0012g0010 |
2 | 93 | 0.0215 | 32 | c.502 others(51): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 5/6 | chr7 | TogoVar | |||||||
CALN1_chr7_71774491_72417338 | 72054502 | T | TACATATA others(25): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02486.hp1 |
a0001 | a0001c0001 | a0001c0001t0060a0001c0001t0061 | a0001c0001t0060g0141 a0001c0001t0061g0142 |
2 | 79 | 0.0253 | 32 | c.389 others(51): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 4/6 | chr7 | TogoVar | |||||||
CALN1_chr7_71774491_72417338 | 72081406 | G | GGGGTGTG others(25): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0127 | 1 | 139 | 0.0072 | 32 | c.388 others(51): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 4/6 | chr7 | TogoVar | |||||||
CALN1_chr7_71774491_72417338 | 72081417 | G | GTGTGTGT others(25): Show |
intron_variant | MODIFIER | NA18961.hp1 NA18975.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0024 | a0001c0001t0002g0089 a0001c0001t0024g0008 |
2 | 31 | 0.0645 | 32 | c.388 others(51): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 4/6 | chr7 | TogoVar | |||||||
CALN1_chr7_71774491_72417338 | 72209282 | T | TTCCTTCC others(25): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00738.hp1 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0001g0056 others(34): Show |
37 | 135 | 0.2741 | 32 | c.244 others(51): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | |||||||
CALN1_chr7_71774491_72417338 | 72209330 | T | TTCCTTCC others(25): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02451.hp1 HG02486.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0043others(3): Show | a0001c0001t0001g0076 a0001c0001t0004g0081 a0001c0001t0004g0088 others(4): Show |
7 | 98 | 0.0714 | 32 | c.244 others(51): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | |||||||
CALN1_chr7_71774491_72417338 | 72271575 | A | AAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0001 | 1 | 14 | 0.0714 | 32 | c.244 others(49): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | |||||||
CALN1_chr7_71774491_72417338 | 72271575 | A | AAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 14 | 0.0714 | 32 | c.244 others(49): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | |||||||
CALN1_chr7_71774491_72417338 | 72338525 | G | GTGTGTGT others(25): Show |
intron_variant | MODIFIER | HG01361.hp2 HG03654.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0042 | a0001c0001t0001g0072 a0001c0001t0042g0067 |
2 | 77 | 0.0260 | 32 | c.120 others(51): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 2/6 | chr7 | TogoVar | |||||||
CALY_chr10_133319072_133341896 | 133329392 | C | CTTCTTCT others(25): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0084 | 1 | 108 | 0.0093 | 32 | c.-20 others(47): Show |
CALY | ENSG00000130643.9 | transcript | ENST00000252939.9 | protein_coding | 1/5 | chr10 | TogoVar | |||||||
CAMK1D_chr10_12344547_12840545 | 12401116 | A | AATATATA others(25): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0077 | a0001c0001t0077g0184 | 1 | 214 | 0.0047 | 32 | c.92+ others(49): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | chr10 | TogoVar | |||||||
CAMK1D_chr10_12344547_12840545 | 12541842 | T | TCTTCCTT others(25): Show |
intron_variant | MODIFIER | HG03195.hp2 NA18989.hp1 NA20905.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0108a0001c0002t0004a0001c0002t0052 | a0001c0001t0108g0020 a0001c0002t0004g0091 a0001c0002t0052g0214 |
3 | 43 | 0.0698 | 32 | c.93- others(49): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12694151 | T | TATTATGC others(25): Show |
intron_variant | MODIFIER | HG03490.hp1 HG03492.hp2 |
a0001 | a0001c0002 | a0001c0002t0023 | a0001c0002t0023g0102 a0001c0002t0023g0103 |
2 | 129 | 0.0155 | 32 | c.299 others(51): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12801354 | T | TATCTATC others(25): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0012 | 1 | 53 | 0.0189 | 32 | c.641 others(51): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 6/10 | chr10 | TogoVar | |||||||
CAMK1D_chr10_12344547_12840545 | 12801354 | T | TATCTTAT others(25): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0196 | 1 | 53 | 0.0189 | 32 | c.641 others(51): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 6/10 | chr10 | TogoVar | |||||||
CAMK1D_chr10_12344547_12840545 | 12827464 | G | GTCTTTCT others(25): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0142 | 1 | 176 | 0.0057 | 32 | c.104 others(51): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK2B_chr7_44212154_44330594 | 44227733 | T | TGTGGAAG others(25): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02922.hp2 HG03471.hp2 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0008 | a0001c0004t0001g0105 a0001c0004t0008g0001 a0001c0004t0008g0031 |
4 | 220 | 0.0182 | 32 | c.146 others(51): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 19/23 | chr7 | TogoVar | |||||||
CAMK2D_chr4_113446032_113766738 | 113709746 | G | GATATATA others(25): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0062 | a0001c0001t0062g0187 | 1 | 53 | 0.0189 | 32 | c.161 others(51): Show |
CAMK2D | ENSG00000145349.20 | transcript | ENST00000511664.6 | protein_coding | 2/20 | chr4 | TogoVar | |||||||
CAMK2D_chr4_113446032_113766738 | 113709746 | G | GATATATA others(25): Show |
intron_variant | MODIFIER | HG01496.hp1 HG03492.hp2 NA18969.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0009 | a0001c0001t0002g0233 a0001c0001t0006g0264 a0001c0001t0009g0207 others(1): Show |
4 | 56 | 0.0714 | 32 | c.161 others(51): Show |
CAMK2D | ENSG00000145349.20 | transcript | ENST00000511664.6 | protein_coding | 2/20 | chr4 | TogoVar | |||||||
CAMK4_chr5_111219384_111499886 | 111480249 | A | AACACACA others(25): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0109 | a0001c0001t0109g0198 | 1 | 50 | 0.0200 | 32 | c.828 others(49): Show |
CAMK4 | ENSG00000152495.11 | transcript | ENST00000282356.9 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CAMKK2_chr12_121232692_121301709 | 121268083 | C | CATATATA others(25): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02132.hp2 HG02647.hp2 others(8): Show |
a0001a0002a0004 | a0001c0008a0002c0002a0002c0004others(3): Show | a0001c0008t0004a0002c0002t0001a0002c0004t0002others(3): Show | a0001c0008t0004g0102 a0002c0002t0001g0134 a0002c0002t0001g0306 others(8): Show |
11 | 156 | 0.0705 | 32 | c.625 others(47): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 5/16 | chr12 | TogoVar | |||||||
CAMLG_chr5_134733548_134757157 | 134744412 | T | TACTCAGG others(25): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0070 | 1 | 366 | 0.0027 | 32 | c.699 others(47): Show |
CAMLG | ENSG00000164615.6 | transcript | ENST00000297156.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CAMSAP1_chr9_135803487_135912546 | 135892848 | C | CAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG02615.hp2 NA18960.hp1 |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0011t0006 | a0001c0001t0001g0127 a0001c0011t0006g0126 |
2 | 82 | 0.0244 | 32 | c.161 others(49): Show |
CAMSAP1 | ENSG00000130559.19 | transcript | ENST00000389532.9 | protein_coding | 1/16 | chr9 | TogoVar | |||||||
CAMTA1_chr1_6780454_7774706 | 7276303 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0002 | a0002c0004 | a0002c0004t0011 | a0002c0004t0011g0005 | 1 | 13 | 0.0769 | 32 | c.438 others(51): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7352123 | G | GGAAGGAG others(25): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02622.hp1 HG02723.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0002a0001c0001t0011a0001c0003t0023others(2): Show | a0001c0001t0002g0001 a0001c0001t0011g0058 a0001c0003t0023g0045 others(2): Show |
5 | 58 | 0.0862 | 32 | c.438 others(53): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7398193 | C | CTCTCTCT others(25): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0026 | 1 | 22 | 0.0455 | 32 | c.439 others(51): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7594117 | G | GAGAAAGA others(25): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0058 | 1 | 46 | 0.0217 | 32 | c.511 others(51): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CANT1_chr17_78986716_79014764 | 78993377 | G | GTGGGGCC others(25): Show |
3_prime_UTR_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0112 | 1 | 392 | 0.0026 | 32 | c.*14 others(41): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 5/5 | 172 | chr17 | TogoVar | ||||||
CANX_chr5_179693967_179736641 | 179710707 | C | CAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG01346.hp2 HG03225.hp2 NA18956.hp2 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0003a0002c0002t0003a0003c0003t0003 | a0001c0001t0003g0015 a0001c0001t0003g0044 a0001c0001t0003g0054 others(2): Show |
5 | 110 | 0.0455 | 32 | c.721 others(47): Show |
CANX | ENSG00000127022.16 | transcript | ENST00000247461.9 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CAP2_chr6_17388595_17562780 | 17500340 | A | AATATATA others(25): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0074 | 1 | 17 | 0.0588 | 32 | c.301 others(49): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAPG_chr2_85389753_85415366 | 85397704 | A | AAAAGAAA others(25): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01516.hp1 HG01517.hp2 others(1): Show |
a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0061 a0003c0006t0001g0075 a0003c0006t0001g0076 others(1): Show |
4 | 327 | 0.0122 | 32 | c.892 others(47): Show |
CAPG | ENSG00000042493.16 | transcript | ENST00000263867.9 | protein_coding | 8/9 | chr2 | TogoVar | |||||||
CAPN10_chr2_240581734_240604104 | 240594824 | A | AGATGATT others(25): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(181): Show |
a0001a0007a0008others(5): Show | a0001c0001a0001c0006a0001c0007others(10): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(38): Show |
184 | 409 | 0.4499 | 32 | c.997 others(47): Show |
CAPN10 | ENSG00000142330.20 | transcript | ENST00000391984.7 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CAPN10_chr2_240581734_240604104 | 240602674 | C | CGCCACTC others(25): Show |
downstream_gene_variant | MODIFIER | HG02451.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 |
2 | 409 | 0.0049 | 32 | c.*39 others(43): Show |
CAPN10 | ENSG00000142330.20 | transcript | ENST00000391984.7 | protein_coding | 3571 | chr2 | TogoVar | |||||||
CAPN10_chr2_240581734_240604104 | 240602675 | A | ACCACTCC others(25): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0017 | 1 | 36 | 0.0278 | 32 | c.*39 others(43): Show |
CAPN10 | ENSG00000142330.20 | transcript | ENST00000391984.7 | protein_coding | 3572 | chr2 | TogoVar | |||||||
CAPN10_chr2_240581734_240604104 | 240602707 | G | GCCACTCC others(25): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 HG01243.hp1 HG02258.hp1 others(3): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0011 | a0001c0001t0001a0001c0002t0002a0006c0011t0002 | a0001c0001t0001g0001 a0001c0002t0002g0017 a0001c0002t0002g0038 others(1): Show |
6 | 395 | 0.0152 | 32 | c.*40 others(43): Show |
CAPN10 | ENSG00000142330.20 | transcript | ENST00000391984.7 | protein_coding | 3604 | chr2 | TogoVar | |||||||
CAPN12_chr19_38725192_38749474 | 38728449 | C | CCTCCTCC others(25): Show |
downstream_gene_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 339 | 0.0029 | 32 | c.*24 others(43): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 1742 | chr19 | TogoVar | |||||||
CAPN13_chr2_30717771_30812446 | 30796146 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0140 | 1 | 211 | 0.0047 | 32 | c.-32 others(49): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
CAPN15_chr16_522712_559636 | 544867 | C | CCTCCCCC others(25): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01070.hp2 HG01257.hp1 others(13): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0003a0001c0002t0019a0001c0003t0001others(3): Show | a0001c0002t0003g0212 a0001c0002t0003g0299 a0001c0002t0019g0396 others(12): Show |
16 | 360 | 0.0444 | 32 | c.-22 others(49): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |