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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP11A_chr13_112685038_112892168 | 112723285 | T | TCCCCACC others(311): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 254 | 0.0039 | 318 | c.39+ others(335): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112723285 | T | TCCCCACC others(311): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0236 | 1 | 254 | 0.0039 | 318 | c.39+ others(335): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112766784 | A | AGGAGGAT others(311): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0142 | 1 | 254 | 0.0039 | 318 | c.40- others(335): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138718241 | T | TGGATGTC others(311): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0354 | 1 | 376 | 0.0027 | 318 | c.214 others(337): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 19/21 | chr7 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50085958 | T | TTTATATA others(311): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0244 | 1 | 254 | 0.0039 | 318 | c.29- others(335): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | |||||||
ATXN1L_chr16_71840976_71862328 | 71841979 | T | TTCTTTTT others(311): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0039 | 1 | 418 | 0.0024 | 318 | c.-43 others(329): Show |
ATXN1L | ENSG00000224470.9 | transcript | ENST00000427980.7 | protein_coding | 3996 | chr16 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 835481 | T | TGCAGCCC others(311): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 391 | 0.0026 | 318 | c.*36 others(329): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar | |||||||
BBS9_chr7_33124564_33611069 | 33143869 | T | TGTGTATC others(311): Show |
intron_variant | MODIFIER | HG01517.hp1 NA19070.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0004 | a0001c0001t0003g0009 a0002c0002t0004g0008 |
2 | 268 | 0.0075 | 318 | c.-11 others(335): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BCAS1_chr20_53938541_54075594 | 54021397 | T | TAAAAAAA others(311): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 | 1 | 364 | 0.0028 | 318 | c.723 others(335): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 4/12 | chr20 | TogoVar | |||||||
BCAS1_chr20_53938541_54075594 | 54021397 | T | TAAAAAAA others(311): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00597.hp1 HG01069.hp2 others(22): Show |
a0002a0004a0006others(3): Show | a0002c0002a0004c0004a0006c0006others(3): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0006others(11): Show | a0002c0002t0001g0100 a0002c0002t0002g0194 a0002c0002t0002g0304 others(22): Show |
25 | 364 | 0.0687 | 318 | c.723 others(335): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 4/12 | chr20 | TogoVar | |||||||
BCAS1_chr20_53938541_54075594 | 54021397 | T | TAAAAAAA others(311): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0002 | a0002c0002 | a0002c0002t0019 | a0002c0002t0019g0195 | 1 | 364 | 0.0028 | 318 | c.723 others(335): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 4/12 | chr20 | TogoVar | |||||||
BECN1_chr17_42805134_42829282 | 42816808 | T | TAAAAAAA others(311): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 274 | 0.0037 | 318 | c.684 others(333): Show |
BECN1 | ENSG00000126581.13 | transcript | ENST00000590099.6 | protein_coding | 7/11 | chr17 | TogoVar | |||||||
BICD1_chr12_32101847_32388633 | 32252117 | A | ATATATTT others(311): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0150 | 1 | 290 | 0.0035 | 318 | c.426 others(337): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32270106 | G | GCCAGACT others(311): Show |
intron_variant | MODIFIER | HG04184.hp2 NA18981.hp1 NA18988.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0005a0001c0002t0008 | a0001c0002t0002g0073 a0001c0002t0002g0241 a0001c0002t0005g0110 others(2): Show |
5 | 290 | 0.0172 | 318 | c.427 others(337): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRCA2_chr13_32310508_32405268 | 32348295 | T | TAAAAGTT others(311): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG01257.hp2 others(32): Show |
a0003a0006a0017 | a0003c0005a0003c0023a0006c0009others(1): Show | a0003c0005t0003a0003c0005t0032a0003c0005t0033others(4): Show | a0003c0005t0003g0008 a0003c0005t0003g0028 a0003c0005t0003g0029 others(29): Show |
35 | 398 | 0.0879 | 318 | c.700 others(337): Show |
BRCA2 | ENSG00000139618.18 | transcript | ENST00000380152.8 | protein_coding | 13/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
BRF1_chr14_105204286_105306001 | 105276190 | C | CGGCCCTC others(311): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 72 | 0.0139 | 318 | c.266 others(335): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 2/17 | chr14 | TogoVar | |||||||
BRF1_chr14_105204286_105306001 | 105276985 | G | GGGCCCTC others(311): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 72 | 0.0139 | 318 | c.266 others(335): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 2/17 | chr14 | TogoVar | |||||||
BRINP2_chr1_177165958_177287422 | 177184725 | T | TAAAAATA others(311): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 252 | 0.0040 | 318 | c.-77 others(337): Show |
BRINP2 | ENSG00000198797.7 | transcript | ENST00000361539.5 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BTD_chr3_15596745_15658714 | 15597657 | T | TGGATCAT others(311): Show |
upstream_gene_variant | MODIFIER | HG01928.hp1 HG01952.hp1 HG02074.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0251 a0001c0001t0002g0269 a0001c0001t0006g0002 others(10): Show |
15 | 416 | 0.0361 | 318 | c.-42 others(329): Show |
BTD | ENSG00000169814.17 | transcript | ENST00000643237.3 | protein_coding | 4087 | chr3 | TogoVar | |||||||
BTNL8_chr5_180894159_180955906 | 180922591 | T | TAAGAAGT others(311): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02451.hp1 HG02615.hp2 |
a0002a0009 | a0002c0005a0002c0024a0009c0018 | a0002c0005t0001a0002c0024t0001a0009c0018t0001 | a0002c0005t0001g0142 a0002c0024t0001g0062 a0009c0018t0001g0047 |
3 | 190 | 0.0158 | 318 | c.673 others(337): Show |
BTNL8 | ENSG00000113303.12 | transcript | ENST00000340184.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BTNL8_chr5_180894159_180955906 | 180922591 | T | TAAGAAGT others(311): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02451.hp2 HG02970.hp2 others(1): Show |
a0002a0007 | a0002c0005a0007c0017 | a0002c0005t0001a0007c0017t0001 | a0002c0005t0001g0058 a0002c0005t0001g0060 a0002c0005t0001g0061 others(1): Show |
4 | 190 | 0.0211 | 318 | c.673 others(337): Show |
BTNL8 | ENSG00000113303.12 | transcript | ENST00000340184.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BTNL8_chr5_180894159_180955906 | 180922591 | T | TAAGAAGT others(311): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01167.hp1 HG01243.hp1 others(42): Show |
a0002a0005a0006others(4): Show | a0002c0002a0002c0005a0002c0007others(8): Show | a0002c0002t0001a0002c0005t0001a0002c0007t0001others(8): Show | a0002c0002t0001g0003 a0002c0002t0001g0007 a0002c0002t0001g0008 others(35): Show |
45 | 190 | 0.2368 | 318 | c.673 others(337): Show |
BTNL8 | ENSG00000113303.12 | transcript | ENST00000340184.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
C13orf46_chr13_113948705_113979076 | 113961472 | A | AGAAATAA others(311): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00423.hp2 others(43): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0017a0001c0001t0046others(6): Show | a0001c0001t0001g0002 a0001c0001t0001g0025 a0001c0001t0001g0028 others(22): Show |
46 | 414 | 0.1111 | 318 | c.572 others(335): Show |
C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 6/6 | chr13 | TogoVar | |||||||
C19orf67_chr19_14076624_14090783 | 14090083 | G | GGCGGCGG others(311): Show |
upstream_gene_variant | MODIFIER | HG02572.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0020 |
2 | 394 | 0.0051 | 318 | c.-44 others(329): Show |
C19orf67 | ENSG00000188032.10 | transcript | ENST00000548523.6 | protein_coding | 4301 | chr19 | TogoVar | |||||||
C19orf67_chr19_14076624_14090783 | 14090084 | C | CCGGCGGC others(311): Show |
upstream_gene_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 394 | 0.0025 | 318 | c.-44 others(329): Show |
C19orf67 | ENSG00000188032.10 | transcript | ENST00000548523.6 | protein_coding | 4302 | chr19 | TogoVar | |||||||
C19orf67_chr19_14076624_14090783 | 14090084 | C | CCGGCGGC others(311): Show |
upstream_gene_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 394 | 0.0025 | 318 | c.-44 others(329): Show |
C19orf67 | ENSG00000188032.10 | transcript | ENST00000548523.6 | protein_coding | 4302 | chr19 | TogoVar | |||||||
C19orf67_chr19_14076624_14090783 | 14090084 | C | CCGGCGGC others(311): Show |
upstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 394 | 0.0025 | 318 | c.-44 others(329): Show |
C19orf67 | ENSG00000188032.10 | transcript | ENST00000548523.6 | protein_coding | 4302 | chr19 | TogoVar | |||||||
C19orf67_chr19_14076624_14090783 | 14090084 | C | CCGGCGGC others(311): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 HG02922.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 |
3 | 394 | 0.0076 | 318 | c.-44 others(329): Show |
C19orf67 | ENSG00000188032.10 | transcript | ENST00000548523.6 | protein_coding | 4302 | chr19 | TogoVar | |||||||
C19orf67_chr19_14076624_14090783 | 14090084 | C | CCGGCGGC others(311): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(326): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(53): Show |
329 | 394 | 0.8350 | 318 | c.-44 others(329): Show |
C19orf67 | ENSG00000188032.10 | transcript | ENST00000548523.6 | protein_coding | 4302 | chr19 | TogoVar | |||||||
C1orf159_chr1_1076823_1121089 | 1080820 | G | GGTCCCTG others(311): Show |
downstream_gene_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 326 | 0.0031 | 318 | c.*20 others(329): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 1002 | chr1 | TogoVar | |||||||
C4orf19_chr4_37448925_37598510 | 37585231 | G | GTGTTGAG others(311): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0128 | 1 | 354 | 0.0028 | 318 | c.-22 others(335): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
C8A_chr1_56849797_56923223 | 56855418 | T | TAAGAGTG others(311): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0278 | 1 | 366 | 0.0027 | 318 | c.77+ others(331): Show |
C8A | ENSG00000157131.12 | transcript | ENST00000361249.4 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185577 | T | TGGCGGGT others(311): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 |
a0021 | a0021c0034 | a0021c0034t0003 | a0021c0034t0003g0002 | 2 | 338 | 0.0059 | 318 | c.300 others(335): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNG3_chr16_24251335_24367412 | 24316244 | G | GCACAGCT others(311): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01175.hp2 HG01358.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0033 a0001c0001t0001g0054 a0001c0001t0001g0139 others(7): Show |
10 | 366 | 0.0273 | 318 | c.212 others(337): Show |
CACNG3 | ENSG00000006116.4 | transcript | ENST00000005284.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CADM1_chr11_115164236_115509415 | 115328703 | T | TATATATA others(311): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0087 | 1 | 164 | 0.0061 | 318 | c.125 others(337): Show |
CADM1 | ENSG00000182985.19 | transcript | ENST00000331581.11 | protein_coding | 1/11 | chr11 | TogoVar | |||||||
CALCOCO2_chr17_48826035_48870245 | 48858046 | A | ATAGAATA others(311): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0018 | 1 | 328 | 0.0031 | 318 | c.100 others(337): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 10/12 | chr17 | TogoVar | |||||||
CALHM5_chr6_116506639_116529788 | 116522977 | T | TAAAATGT others(311): Show |
3_prime_UTR_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0109 | a0001c0001t0109g0002 | 1 | 402 | 0.0025 | 318 | c.*70 others(329): Show |
CALHM5 | ENSG00000178033.6 | transcript | ENST00000368599.4 | protein_coding | 2/2 | 7005 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CALHM5_chr6_116506639_116529788 | 116522977 | T | TAAAATGT others(311): Show |
3_prime_UTR_variant | MODIFIER | NA19075.hp2 | a0001 | a0001c0001 | a0001c0001t0124 | a0001c0001t0124g0002 | 1 | 402 | 0.0025 | 318 | c.*70 others(329): Show |
CALHM5 | ENSG00000178033.6 | transcript | ENST00000368599.4 | protein_coding | 2/2 | 7005 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CALHM5_chr6_116506639_116529788 | 116522977 | T | TAAAATGT others(311): Show |
3_prime_UTR_variant | MODIFIER | HG00597.hp1 HG01069.hp2 HG01071.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0019a0001c0001t0027others(10): Show | a0001c0001t0002g0002 a0001c0001t0019g0002 a0001c0001t0027g0002 others(10): Show |
35 | 402 | 0.0871 | 318 | c.*70 others(329): Show |
CALHM5 | ENSG00000178033.6 | transcript | ENST00000368599.4 | protein_coding | 2/2 | 7005 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CALN1_chr7_71774491_72417338 | 71936896 | G | GGAGTTTC others(311): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0053 | a0001c0001t0053g0135 | 1 | 142 | 0.0070 | 318 | c.501 others(337): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 5/6 | chr7 | TogoVar | |||||||
CAMKK1_chr17_3855315_3898053 | 3868170 | C | CTCTGGGG others(311): Show |
intron_variant | MODIFIER | HG02080.hp2 NA18975.hp2 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0097 a0001c0002t0004g0107 |
2 | 446 | 0.0045 | 318 | c.134 others(337): Show |
CAMKK1 | ENSG00000004660.15 | transcript | ENST00000348335.7 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
CAMKMT_chr2_44356947_44777592 | 44598696 | T | TAAAATCA others(311): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01099.hp1 HG01109.hp1 others(14): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0060 others(14): Show |
17 | 198 | 0.0859 | 318 | c.377 others(339): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CAPN15_chr16_522712_559636 | 544721 | C | CCTCCCCC others(311): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0003 | a0003c0014 | a0003c0014t0002 | a0003c0014t0002g0102 | 1 | 410 | 0.0024 | 318 | c.-22 others(335): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CAPN7_chr3_15201246_15257916 | 15252819 | C | CAAAAGAC others(311): Show |
3_prime_UTR_variant | MODIFIER | HG01891.hp2 HG02258.hp2 HG02615.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0006 a0001c0001t0004g0016 a0001c0001t0004g0043 others(3): Show |
10 | 376 | 0.0266 | 318 | c.*15 others(329): Show |
CAPN7 | ENSG00000131375.10 | transcript | ENST00000253693.7 | protein_coding | 21/21 | 1576 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CAPN7_chr3_15201246_15257916 | 15252819 | C | CAAAAGAC others(311): Show |
3_prime_UTR_variant | MODIFIER | HG02559.hp1 HG02809.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0017 | a0001c0001t0012g0041 a0001c0001t0012g0042 a0001c0001t0017g0039 |
3 | 376 | 0.0080 | 318 | c.*15 others(329): Show |
CAPN7 | ENSG00000131375.10 | transcript | ENST00000253693.7 | protein_coding | 21/21 | 1576 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CAPN7_chr3_15201246_15257916 | 15252819 | C | CAAAAGAC others(311): Show |
3_prime_UTR_variant | MODIFIER | HG02723.hp2 HG02818.hp2 HG02895.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0035 a0001c0001t0005g0269 a0001c0001t0005g0270 others(4): Show |
7 | 376 | 0.0186 | 318 | c.*15 others(329): Show |
CAPN7 | ENSG00000131375.10 | transcript | ENST00000253693.7 | protein_coding | 21/21 | 1576 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CAPN7_chr3_15201246_15257916 | 15252826 | C | CAGGTTAC others(311): Show |
3_prime_UTR_variant | MODIFIER | HG01891.hp1 HG02145.hp1 HG02145.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0006a0003c0004t0006 | a0001c0001t0006g0290 a0001c0001t0006g0295 a0001c0001t0006g0296 others(3): Show |
6 | 376 | 0.0160 | 318 | c.*15 others(329): Show |
CAPN7 | ENSG00000131375.10 | transcript | ENST00000253693.7 | protein_coding | 21/21 | 1576 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CARD10_chr22_37485362_37524415 | 37491610 | G | GAGGGAGG others(311): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0173 | 1 | 276 | 0.0036 | 318 | c.286 others(335): Show |
CARD10 | ENSG00000100065.15 | transcript | ENST00000251973.10 | protein_coding | 19/19 | chr22 | TogoVar | |||||||
CARD10_chr22_37485362_37524415 | 37491610 | G | GAGGGAGG others(311): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0199 | 1 | 276 | 0.0036 | 318 | c.286 others(335): Show |
CARD10 | ENSG00000100065.15 | transcript | ENST00000251973.10 | protein_coding | 19/19 | chr22 | TogoVar | |||||||
CARD10_chr22_37485362_37524415 | 37491610 | G | GAGGGAGG others(311): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0195 | 1 | 276 | 0.0036 | 318 | c.286 others(335): Show |
CARD10 | ENSG00000100065.15 | transcript | ENST00000251973.10 | protein_coding | 19/19 | chr22 | TogoVar |