| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CAMK2N1_chr1_20477391_20491210 | 20490514 | CCACACAC others(13): Show |
C | upstream_gene_variant | MODIFIER | HG02630.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0021 | 2 | 422 | 0.0047 | -20 | c.-51 others(31): Show |
CAMK2N1 | ENSG00000162545.6 | transcript | ENST00000375078.4 | protein_coding | 4305 | chr1 | TogoVar | ||||||
| CAMK2N2_chr3_184254213_184266553 | 184263633 | AAGAAAGA others(13): Show |
A | upstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 | 1 | 380 | 0.0026 | -20 | c.-23 others(31): Show |
CAMK2N2 | ENSG00000163888.4 | transcript | ENST00000296238.4 | protein_coding | 2081 | chr3 | TogoVar | ||||||
| CAMK2N2_chr3_184254213_184266553 | 184263637 | AAGAGAGA others(13): Show |
A | upstream_gene_variant | MODIFIER | HG01261.hp2 HG02055.hp1 HG02055.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0004 | a0001c0001t0001g0024a0001c0002t0004g0005a0001c0002t0004g0031others(1): Show | 8 | 380 | 0.0211 | -20 | c.-23 others(31): Show |
CAMK2N2 | ENSG00000163888.4 | transcript | ENST00000296238.4 | protein_coding | 2085 | chr3 | TogoVar | ||||||
| CAMK4_chr5_111219384_111499886 | 111266192 | TCACACAC others(13): Show |
T | intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0134 | a0001c0001t0134g0037 | 1 | 246 | 0.0041 | -20 | c.161 others(39): Show |
CAMK4 | ENSG00000152495.11 | transcript | ENST00000282356.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CAMK4_chr5_111219384_111499886 | 111273700 | TATATATA others(13): Show |
T | intron_variant | MODIFIER | HG00609.hp2 HG00673.hp1 HG01099.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(19): Show | a0001c0001t0001g0130a0001c0001t0001g0177a0001c0001t0004g0151others(21): Show | 24 | 246 | 0.0976 | -20 | c.161 others(39): Show |
CAMK4 | ENSG00000152495.11 | transcript | ENST00000282356.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CAMK4_chr5_111219384_111499886 | 111395211 | CAAAAAAA others(13): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02809.hp1 HG02818.hp2 others(9): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0011a0001c0001t0035a0001c0001t0041others(9): Show | a0001c0001t0011g0168a0001c0001t0035g0160a0001c0001t0041g0003others(9): Show | 12 | 246 | 0.0488 | -20 | c.459 others(35): Show |
CAMK4 | ENSG00000152495.11 | transcript | ENST00000282356.9 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CAMK4_chr5_111219384_111499886 | 111443265 | TATATATA others(13): Show |
T | intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0159 | a0001c0001t0159g0046 | 1 | 246 | 0.0041 | -20 | c.460 others(37): Show |
CAMK4 | ENSG00000152495.11 | transcript | ENST00000282356.9 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CAMK4_chr5_111219384_111499886 | 111443267 | TATATATA others(13): Show |
T | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0160 | a0001c0001t0160g0057 | 1 | 246 | 0.0041 | -20 | c.460 others(37): Show |
CAMK4 | ENSG00000152495.11 | transcript | ENST00000282356.9 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CAMK4_chr5_111219384_111499886 | 111443269 | TATATATA others(13): Show |
T | intron_variant | MODIFIER | HG02976.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0107a0001c0001t0163 | a0001c0001t0107g0207a0001c0001t0163g0004 | 2 | 246 | 0.0081 | -20 | c.460 others(37): Show |
CAMK4 | ENSG00000152495.11 | transcript | ENST00000282356.9 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CAMK4_chr5_111219384_111499886 | 111469162 | AAAAAAAA others(13): Show |
A | intron_variant | MODIFIER | HG01496.hp1 HG02055.hp1 HG02280.hp1 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0159a0001c0001t0160a0001c0004t0066others(1): Show | a0001c0001t0159g0046a0001c0001t0160g0057a0001c0004t0066g0193others(1): Show | 4 | 246 | 0.0163 | -20 | c.626 others(37): Show |
CAMK4 | ENSG00000152495.11 | transcript | ENST00000282356.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CAMKK1_chr17_3855315_3898053 | 3878792 | GTATATAT others(13): Show |
G | intron_variant | MODIFIER | HG02683.hp1 NA18952.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0056 | a0001c0002t0001g0333a0001c0002t0056g0269 | 2 | 446 | 0.0045 | -20 | c.796 others(37): Show |
CAMKK1 | ENSG00000004660.15 | transcript | ENST00000348335.7 | protein_coding | 9/15 | chr17 | TogoVar | ||||||
| CAMKMT_chr2_44356947_44777592 | 44445645 | GTTTTTTT others(13): Show |
G | intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 198 | 0.0051 | -20 | c.376 others(39): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CAMKMT_chr2_44356947_44777592 | 44538958 | CTGTGTGT others(13): Show |
C | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 198 | 0.0051 | -20 | 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(13): Show |
G | intron_variant | MODIFIER | HG01081.hp2 HG01106.hp1 HG01109.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0049a0001c0001t0001g0056a0001c0001t0001g0059others(18): Show | 21 | 198 | 0.1061 | -20 | 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 | 44673504 | AGGAAGGA others(13): Show |
A | intron_variant | MODIFIER | NA19060.hp2 NA19091.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049a0001c0001t0001g0081 | 2 | 198 | 0.0101 | -20 | c.377 others(39): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CAMKMT_chr2_44356947_44777592 | 44701968 | ATTTTTTT others(13): Show |
A | intron_variant | MODIFIER | NA18952.hp1 NA18957.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088a0001c0001t0001g0094 | 2 | 198 | 0.0101 | -20 | c.377 others(37): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CAMSAP2_chr1_200733893_200865704 | 200773887 | AAAAATAA others(13): Show |
A | intron_variant | MODIFIER | HG01358.hp1 HG01361.hp2 HG01884.hp1 others(31): Show |
a0001a0005a0007 | a0001c0001a0001c0002a0001c0011others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0270a0001c0001t0001g0272a0001c0001t0002g0184others(31): Show | 34 | 366 | 0.0929 | -20 | c.399 others(39): Show |
CAMSAP2 | ENSG00000118200.15 | transcript | ENST00000358823.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CAMSAP3_chr19_7590863_7623304 | 7599806 | TCCATCCA others(13): Show |
T | intron_variant | MODIFIER | HG02976.hp2 NA20129.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0096a0001c0003t0001g0060 | 2 | 358 | 0.0056 | -20 | c.148 others(37): Show |
CAMSAP3 | ENSG00000076826.10 | transcript | ENST00000160298.9 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CAMSAP3_chr19_7590863_7623304 | 7599987 | CCATCCAT others(13): Show |
C | intron_variant | MODIFIER | HG00423.hp2 NA19010.hp2 NA19087.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163a0001c0001t0001g0164a0001c0001t0001g0165 | 3 | 358 | 0.0084 | -20 | c.148 others(37): Show |
CAMSAP3 | ENSG00000076826.10 | transcript | ENST00000160298.9 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CAMSAP3_chr19_7590863_7623304 | 7600324 | AACTCATC others(13): Show |
A | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 358 | 0.0028 | -20 | c.148 others(37): Show |
CAMSAP3 | ENSG00000076826.10 | transcript | ENST00000160298.9 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CAMTA1_chr1_6780454_7774706 | 6924317 | ATCAGGCC others(13): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG02132.hp1 NA18999.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0021a0001c0003t0001others(1): Show | a0001c0001t0001g0013a0001c0001t0021g0014a0001c0003t0001g0012others(1): Show | 4 | 58 | 0.0690 | -20 | c.234 others(39): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CAMTA1_chr1_6780454_7774706 | 7197628 | CCACACAC others(13): Show |
C | intron_variant | MODIFIER | HG02647.hp1 HG03225.hp1 NA20300.hp2 |
a0001 | a0001c0001a0001c0017 | a0001c0001t0005a0001c0001t0012a0001c0017t0026 | a0001c0001t0005g0038a0001c0001t0012g0051a0001c0017t0026g0027 | 3 | 58 | 0.0517 | -20 | c.303 others(39): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CAMTA1_chr1_6780454_7774706 | 7271565 | GAGATAGA others(13): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG02257.hp1 HG02257.hp2 others(12): Show |
a0001a0006a0008 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0007a0001c0001t0002g0001a0001c0001t0002g0009others(12): Show | 15 | 58 | 0.2586 | -20 | c.438 others(39): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CAMTA1_chr1_6780454_7774706 | 7568604 | CATCACCA others(13): Show |
C | intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0020 | 1 | 58 | 0.0172 | -20 | c.511 others(39): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | chr1 | TogoVar | ||||||
| CAMTA1_chr1_6780454_7774706 | 7602080 | TTTCCTTC others(13): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02280.hp2 HG02922.hp2 |
a0001a0003 | a0001c0002a0003c0012 | a0001c0002t0004a0001c0002t0006a0003c0012t0022 | a0001c0002t0004g0030a0001c0002t0006g0008a0003c0012t0022g0017 | 3 | 58 | 0.0517 | -20 | c.511 others(39): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CANX_chr5_179693967_179736641 | 179699422 | CCTGGGCA others(13): Show |
C | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0035 | 1 | 380 | 0.0026 | -20 | c.-4+ others(33): Show |
CANX | ENSG00000127022.16 | transcript | ENST00000247461.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CAP2_chr6_17388595_17562780 | 17500340 | AATATATA others(13): Show |
A | intron_variant | MODIFIER | HG01255.hp2 HG01261.hp2 HG01496.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0002 | a0001c0001t0002g0102a0001c0001t0002g0147a0001c0001t0002g0169others(2): Show | 5 | 206 | 0.0243 | -20 | c.301 others(37): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CAPN11_chr6_44153820_44189401 | 44164396 | AGGCATCT others(13): Show |
A | intron_variant | MODIFIER | HG00558.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0132 | 1 | 460 | 0.0022 | -20 | c.17- others(35): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 1/22 | chr6 | TogoVar | ||||||
| CAPN12_chr19_38725192_38749474 | 38735670 | CGCGGGGC others(13): Show |
C | intron_variant | MODIFIER | HG02015.hp2 HG04115.hp1 NA18970.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0002a0001c0003t0001 | a0001c0001t0001g0115a0001c0002t0002g0181a0001c0002t0002g0191others(3): Show | 6 | 342 | 0.0175 | -20 | c.158 others(37): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | ||||||
| CAPN12_chr19_38725192_38749474 | 38735772 | CGGGGCGG others(13): Show |
C | intron_variant | MODIFIER | HG00733.hp1 HG01943.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0084a0001c0001t0013g0044 | 2 | 342 | 0.0059 | -20 | c.158 others(37): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | ||||||
| CAPN12_chr19_38725192_38749474 | 38735797 | CGGGGCGG others(13): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG02071.hp2 HG02074.hp1 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004a0001c0002t0002g0169a0001c0002t0002g0174others(5): Show | 11 | 342 | 0.0322 | -20 | c.158 others(37): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | ||||||
| CAPN12_chr19_38725192_38749474 | 38735868 | CGGGCGGG others(13): Show |
C | intron_variant | MODIFIER | NA18959.hp2 NA18995.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103a0001c0001t0001g0111 | 2 | 342 | 0.0059 | -20 | c.158 others(37): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | ||||||
| CAPN12_chr19_38725192_38749474 | 38735942 | CGGGGCGG others(13): Show |
C | intron_variant | MODIFIER | HG02056.hp2 | a0004 | a0004c0008 | a0004c0008t0003 | a0004c0008t0003g0282 | 1 | 342 | 0.0029 | -20 | c.158 others(37): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | ||||||
| CAPN12_chr19_38725192_38749474 | 38736456 | CCCCAGGG others(13): Show |
C | intron_variant | MODIFIER | NA19089.hp1 | a0011 | a0011c0016 | a0011c0016t0005 | a0011c0016t0005g0263 | 1 | 342 | 0.0029 | -20 | c.137 others(35): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 11/20 | chr19 | TogoVar | ||||||
| CAPN13_chr2_30717771_30812446 | 30759032 | CTCCCTCC others(13): Show |
C | intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0082 | 1 | 384 | 0.0026 | -20 | c.775 others(35): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 7/22 | chr2 | TogoVar | ||||||
| CAPN13_chr2_30717771_30812446 | 30800116 | AAAAGAAA others(13): Show |
A | intron_variant | MODIFIER | HG06807.hp1 NA19007.hp1 |
a0001 | a0001c0001a0001c0021 | a0001c0001t0003a0001c0021t0001 | a0001c0001t0003g0244a0001c0021t0001g0277 | 2 | 384 | 0.0052 | -20 | c.-33 others(37): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 1/22 | chr2 | TogoVar | ||||||
| CAPN1_chr11_65176928_65217006 | 65215891 | TGAGTGAG others(13): Show |
T | downstream_gene_variant | MODIFIER | NA18942.hp2 NA18952.hp2 NA18972.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002a0001c0002t0001g0234a0001c0002t0001g0243others(1): Show | 5 | 394 | 0.0127 | -20 | c.*46 others(31): Show |
CAPN1 | ENSG00000014216.16 | transcript | ENST00000279247.11 | protein_coding | 3886 | chr11 | TogoVar | ||||||
| CAPN1_chr11_65176928_65217006 | 65216584 | AGTGGGTG others(13): Show |
A | downstream_gene_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 394 | 0.0025 | -20 | c.*52 others(31): Show |
CAPN1 | ENSG00000014216.16 | transcript | ENST00000279247.11 | protein_coding | 4579 | chr11 | TogoVar | ||||||
| CAPN2_chr1_223707539_223781018 | 223732369 | TTTCTTGA others(13): Show |
T | intron_variant | MODIFIER | NA18957.hp1 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0042 | 1 | 378 | 0.0027 | -20 | c.308 others(39): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CAPN3_chr15_42354501_42417317 | 42374986 | AATTTATT others(13): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02280.hp1 HG02572.hp2 others(5): Show |
a0001a0002 | a0001c0003a0001c0013a0002c0002others(1): Show | a0001c0003t0001a0001c0013t0001a0002c0002t0001others(1): Show | a0001c0003t0001g0033a0001c0013t0001g0280a0001c0013t0001g0281others(5): Show | 8 | 306 | 0.0261 | -20 | c.310 others(37): Show |
CAPN3 | ENSG00000092529.26 | transcript | ENST00000397163.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| CAPN7_chr3_15201246_15257916 | 15254713 | ATTACTGT others(13): Show |
A | downstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0039 | 1 | 376 | 0.0027 | -20 | c.*34 others(31): Show |
CAPN7 | ENSG00000131375.10 | transcript | ENST00000253693.7 | protein_coding | 1798 | chr3 | TogoVar | ||||||
| CAPN9_chr1_230742388_230806989 | 230751597 | GAAAGAAA others(13): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG02683.hp2 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0102a0003c0004t0001g0128 | 2 | 394 | 0.0051 | -20 | c.214 others(37): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CAPN9_chr1_230742388_230806989 | 230751605 | GAAAGAGA others(13): Show |
G | intron_variant | MODIFIER | HG00733.hp1 HG02071.hp2 HG02109.hp1 others(2): Show |
a0001a0003a0010 | a0001c0001a0001c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0003c0004t0001others(1): Show | a0001c0001t0001g0098a0001c0001t0001g0149a0001c0002t0001g0150others(2): Show | 5 | 394 | 0.0127 | -20 | c.214 others(37): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CAPN9_chr1_230742388_230806989 | 230756998 | GAGGGAGG others(13): Show |
G | intron_variant | MODIFIER | HG01952.hp2 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0269 | 1 | 394 | 0.0025 | -20 | c.283 others(37): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CAPN9_chr1_230742388_230806989 | 230768010 | TAATAAAT others(13): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00423.hp2 others(26): Show |
a0003a0004a0009others(1): Show | a0003c0004a0003c0022a0004c0007others(2): Show | a0003c0004t0001a0003c0022t0001a0004c0007t0001others(2): Show | a0003c0004t0001g0099a0003c0004t0001g0100a0003c0004t0001g0101others(26): Show | 29 | 394 | 0.0736 | -20 | c.705 others(35): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CAPN9_chr1_230742388_230806989 | 230768041 | TAAATAAA others(13): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG00738.hp2 HG01257.hp2 others(3): Show |
a0001a0002a0006 | a0001c0003a0002c0031a0006c0010 | a0001c0003t0001a0002c0031t0001a0006c0010t0001 | a0001c0003t0001g0356a0001c0003t0001g0361a0001c0003t0001g0364others(3): Show | 6 | 394 | 0.0152 | -20 | c.705 others(35): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CAPN9_chr1_230742388_230806989 | 230769614 | CACCTATC others(13): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00735.hp2 others(14): Show |
a0001a0003a0004 | a0001c0005a0003c0004a0004c0007 | a0001c0005t0001a0003c0004t0001a0004c0007t0001 | a0001c0005t0001g0064a0001c0005t0001g0293a0001c0005t0001g0300others(14): Show | 17 | 394 | 0.0432 | -20 | c.789 others(35): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CAPN9_chr1_230742388_230806989 | 230769616 | CCTATCTA others(13): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG01070.hp1 HG01071.hp1 others(15): Show |
a0002a0004 | a0002c0006a0002c0031a0004c0007 | a0002c0006t0001a0002c0031t0001a0004c0007t0001 | a0002c0006t0001g0006a0002c0006t0001g0007a0002c0006t0001g0011others(15): Show | 18 | 394 | 0.0457 | -20 | c.789 others(35): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CAPN9_chr1_230742388_230806989 | 230796329 | TATAAATA others(13): Show |
T | intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 | 1 | 394 | 0.0025 | -20 | c.198 others(39): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 18/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CAPN9_chr1_230742388_230806989 | 230800218 | AATAAGAA others(13): Show |
A | intron_variant | MODIFIER | HG03098.hp1 NA19043.hp2 |
a0003a0016 | a0003c0004a0016c0030 | a0003c0004t0002a0016c0030t0002 | a0003c0004t0002g0124a0016c0030t0002g0093 | 2 | 394 | 0.0051 | -20 | c.204 others(39): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |