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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CAMTA1_chr1_6780454_7774706 | 6790375 | A | AGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0002 | a0002c0004 | a0002c0004t0011 | a0002c0004t0011g0005 | 1 | 58 | 0.0172 | 10 | c.45+ others(25): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 6884335 | C | CACACACA others(3): Show |
intron_variant | MODIFIER | HG02622.hp2 NA20805.hp1 |
a0001a0008 | a0001c0010a0008c0011 | a0001c0010t0004a0008c0011t0016 | a0001c0010t0004g0031a0008c0011t0016g0029 | 2 | 58 | 0.0345 | 10 | c.234 others(29): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 6899554 | G | GCGCACAC others(3): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0037 | 1 | 58 | 0.0172 | 10 | c.234 others(29): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 6963270 | G | GCCCCCCC others(3): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0037 | 1 | 58 | 0.0172 | 10 | c.235 others(31): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 3/22 | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7013209 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01243.hp2 HG03704.hp1 others(1): Show |
a0001a0002a0004 | a0001c0001a0001c0005a0002c0004others(1): Show | a0001c0001t0001a0001c0005t0005a0002c0004t0011others(1): Show | a0001c0001t0001g0013a0001c0005t0005g0044a0002c0004t0011g0005others(1): Show | 4 | 58 | 0.0690 | 10 | c.235 others(29): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7089532 | C | CCCCATCC others(3): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02630.hp1 HG03486.hp1 others(1): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0004a0001c0001t0013a0001c0001t0020others(1): Show | a0001c0001t0004g0026a0001c0001t0013g0056a0001c0001t0020g0049others(1): Show | 4 | 58 | 0.0690 | 10 | c.235 others(27): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7107278 | A | ATGTGTGT others(3): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG01884.hp1 others(19): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0040others(19): Show | 22 | 58 | 0.3793 | 10 | c.302 others(29): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7197628 | C | CCACACAC others(3): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0020 | 1 | 58 | 0.0172 | 10 | c.303 others(29): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7197678 | A | ACACACAC others(3): Show |
intron_variant | MODIFIER | HG02004.hp1 HG02132.hp2 |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0001a0007c0008t0007 | a0001c0001t0001g0040a0007c0008t0007g0023 | 2 | 58 | 0.0345 | 10 | c.303 others(29): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 4/22 | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7221906 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02622.hp2 HG03225.hp1 others(2): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0010others(1): Show | a0001c0001t0005a0001c0001t0013a0001c0003t0010others(2): Show | a0001c0001t0005g0038a0001c0001t0013g0054a0001c0003t0010g0035others(2): Show | 5 | 58 | 0.0862 | 10 | c.303 others(29): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7221926 | C | CACACACA others(3): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0058 | 1 | 58 | 0.0172 | 10 | c.303 others(29): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7227939 | G | GGTTGTCG others(3): Show |
intron_variant | MODIFIER | HG00558.hp1 HG03225.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0013 | a0001c0001t0003g0047a0001c0001t0005g0038a0001c0001t0013g0054 | 3 | 58 | 0.0517 | 10 | c.303 others(29): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 4/22 | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7231327 | A | ATGTGTGT others(3): Show |
intron_variant | MODIFIER | HG02004.hp2 HG02451.hp2 HG03041.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0015others(1): Show | a0001c0001t0008a0001c0002t0001a0001c0015t0006others(2): Show | a0001c0001t0008g0003a0001c0002t0001g0020a0001c0015t0006g0043others(2): Show | 5 | 58 | 0.0862 | 10 | c.303 others(29): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7276303 | A | ATATATAT others(3): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0037 | 1 | 58 | 0.0172 | 10 | c.438 others(29): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7276303 | A | ATATATAT others(3): Show |
intron_variant | MODIFIER | HG03041.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0046a0001c0001t0008g0003 | 2 | 58 | 0.0345 | 10 | c.438 others(29): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7277467 | G | GTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 58 | 0.0172 | 10 | c.438 others(29): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7277469 | G | GTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02630.hp2 |
a0001 | a0001c0001a0001c0010 | a0001c0001t0004a0001c0010t0004 | a0001c0001t0004g0034a0001c0010t0004g0031 | 2 | 58 | 0.0345 | 10 | c.438 others(29): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7310700 | C | CTTTCTTT others(3): Show |
intron_variant | MODIFIER | HG02257.hp1 HG03688.hp1 |
a0001a0006 | a0001c0009a0006c0007 | a0001c0009t0019a0006c0007t0014 | a0001c0009t0019g0039a0006c0007t0014g0018 | 2 | 58 | 0.0345 | 10 | c.438 others(29): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7498191 | A | AGTGAGTG others(3): Show |
intron_variant | MODIFIER | HG02622.hp2 HG03130.hp2 HG03579.hp1 |
a0001 | a0001c0001a0001c0003a0001c0010 | a0001c0001t0002a0001c0003t0023a0001c0010t0004 | a0001c0001t0002g0036a0001c0003t0023g0045a0001c0010t0004g0031 | 3 | 58 | 0.0517 | 10 | c.510 others(29): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7498191 | A | AGTGTTGG others(3): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02257.hp2 HG02280.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0012others(3): Show | a0001c0001t0001g0007a0001c0001t0005g0038a0001c0001t0012g0019others(4): Show | 7 | 58 | 0.1207 | 10 | c.510 others(29): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7542838 | A | AGTTTGTG others(3): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02004.hp1 HG03688.hp1 others(2): Show |
a0001a0002a0007 | a0001c0001a0001c0009a0002c0004others(1): Show | a0001c0001t0003a0001c0009t0019a0002c0004t0018others(1): Show | a0001c0001t0003g0022a0001c0001t0003g0048a0001c0009t0019g0039others(2): Show | 5 | 58 | 0.0862 | 10 | c.510 others(29): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7579552 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0003 | 1 | 58 | 0.0172 | 10 | c.511 others(29): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7655105 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG01884.hp2 others(15): Show |
a0001a0006a0008 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0013others(12): Show | a0001c0001t0002g0009a0001c0001t0002g0036a0001c0001t0004g0026others(15): Show | 18 | 58 | 0.3103 | 10 | c.665 others(27): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7668387 | C | CAACACAC others(3): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02647.hp2 |
a0001 | a0001c0003a0001c0017 | a0001c0003t0005a0001c0017t0026 | a0001c0003t0005g0028a0001c0017t0026g0027 | 2 | 58 | 0.0345 | 10 | c.265 others(29): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7680861 | C | CGCGCCAG others(3): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0009 | a0001c0009t0019 | a0001c0009t0019g0039 | 1 | 58 | 0.0172 | 10 | c.291 others(29): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 11/22 | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7688011 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0038 | 1 | 58 | 0.0172 | 10 | c.291 others(31): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAND1_chr12_67264358_67324953 | 67267425 | T | TTGTGTGT others(3): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0067 | 1 | 328 | 0.0031 | 10 | c.-22 others(21): Show |
CAND1 | ENSG00000111530.13 | transcript | ENST00000545606.6 | protein_coding | 1932 | chr12 | TogoVar | ||||||
CAND1_chr12_67264358_67324953 | 67316962 | A | AACATAGT others(3): Show |
3_prime_UTR_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0005 | 1 | 328 | 0.0031 | 10 | c.*41 others(21): Show |
CAND1 | ENSG00000111530.13 | transcript | ENST00000545606.6 | protein_coding | 15/15 | 4145 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||
CAND2_chr3_12791680_12839803 | 12812221 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0007 | a0007c0011 | a0007c0011t0001 | a0007c0011t0001g0155 | 1 | 378 | 0.0027 | 10 | c.758 others(25): Show |
CAND2 | ENSG00000144712.13 | transcript | ENST00000456430.6 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CAND2_chr3_12791680_12839803 | 12812682 | G | GCGTGAGC others(3): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02258.hp1 others(6): Show |
a0014a0017a0026others(1): Show | a0014c0016a0017c0019a0026c0045others(1): Show | a0014c0016t0001a0017c0019t0004a0026c0045t0004others(1): Show | a0014c0016t0001g0144a0014c0016t0001g0145a0014c0016t0001g0146others(6): Show | 9 | 378 | 0.0238 | 10 | c.758 others(25): Show |
CAND2 | ENSG00000144712.13 | transcript | ENST00000456430.6 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CANT1_chr17_78986716_79014764 | 78987377 | C | CTTTTTTT others(3): Show |
downstream_gene_variant | MODIFIER | HG01361.hp2 HG02027.hp2 HG03017.hp2 others(7): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0002t0006a0001c0002t0007others(2): Show | a0001c0002t0002g0097a0001c0002t0002g0103a0001c0002t0006g0051others(7): Show | 10 | 394 | 0.0254 | 10 | c.*61 others(21): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 4338 | chr17 | TogoVar | ||||||
CANT1_chr17_78986716_79014764 | 79004330 | G | GCTGGGGG others(3): Show |
intron_variant | MODIFIER | NA18983.hp1 NA19004.hp2 |
a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0233a0001c0002t0009g0235 | 2 | 394 | 0.0051 | 10 | c.-14 others(29): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
CAP1_chr1_40035729_40077648 | 40035891 | T | TAAAAAAA others(3): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG01175.hp2 others(54): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0012others(2): Show | a0001c0001t0003g0006a0001c0001t0003g0019a0001c0001t0003g0020others(42): Show | 57 | 378 | 0.1508 | 10 | c.-49 others(21): Show |
CAP1 | ENSG00000131236.18 | transcript | ENST00000372805.8 | protein_coding | 4837 | chr1 | TogoVar | ||||||
CAP1_chr1_40035729_40077648 | 40054061 | T | TAAAACAA others(3): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0070 | 1 | 378 | 0.0027 | 10 | c.-10 others(27): Show |
CAP1 | ENSG00000131236.18 | transcript | ENST00000372805.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAP1_chr1_40035729_40077648 | 40054193 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG01175.hp1 others(62): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0012others(3): Show | a0001c0001t0003g0006a0001c0001t0003g0019a0001c0001t0003g0020others(47): Show | 65 | 378 | 0.1720 | 10 | c.-10 others(27): Show |
CAP1 | ENSG00000131236.18 | transcript | ENST00000372805.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAP1_chr1_40035729_40077648 | 40062773 | T | TTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG03490.hp2 HG03492.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0023 | a0001c0001t0002g0025a0001c0001t0023g0054 | 3 | 378 | 0.0079 | 10 | c.294 others(25): Show |
CAP1 | ENSG00000131236.18 | transcript | ENST00000372805.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAP2_chr6_17388595_17562780 | 17438433 | G | GTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG02145.hp2 NA18906.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0067a0001c0002t0001g0197 | 2 | 206 | 0.0097 | 10 | c.222 others(29): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAP2_chr6_17388595_17562780 | 17444804 | C | CCACACAC others(3): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01981.hp1 HG02886.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0006others(2): Show | a0001c0001t0002g0126a0001c0001t0002g0162a0001c0002t0002g0135others(3): Show | 6 | 206 | 0.0291 | 10 | c.222 others(29): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAP2_chr6_17388595_17562780 | 17461992 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG02135.hp1 HG02135.hp2 NA19003.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0005 | a0001c0001t0002a0001c0006t0001a0002c0005t0001 | a0001c0001t0002g0172a0001c0006t0001g0155a0002c0005t0001g0003others(1): Show | 4 | 206 | 0.0194 | 10 | c.223 others(25): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAP2_chr6_17388595_17562780 | 17500340 | A | AATATATA others(3): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01175.hp1 HG01255.hp1 others(16): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(6): Show | a0001c0001t0001g0069a0001c0001t0001g0142a0001c0001t0002g0023others(16): Show | 19 | 206 | 0.0922 | 10 | c.301 others(27): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAP2_chr6_17388595_17562780 | 17529651 | A | AAAAAAAA others(3): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0166 | 1 | 206 | 0.0049 | 10 | c.637 others(27): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAPG_chr2_85389753_85415366 | 85406259 | A | AAAAAGAA others(3): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0215 | 1 | 410 | 0.0024 | 10 | c.-14 others(27): Show |
CAPG | ENSG00000042493.16 | transcript | ENST00000263867.9 | protein_coding | 1/9 | chr2 | TogoVar | ||||||
CAPG_chr2_85389753_85415366 | 85408338 | T | TCACACAC others(3): Show |
intron_variant | MODIFIER | HG02074.hp2 HG02129.hp1 HG02145.hp1 others(16): Show |
a0001a0003 | a0001c0002a0003c0006 | a0001c0002t0001a0003c0006t0001 | a0001c0002t0001g0014a0001c0002t0001g0033a0001c0002t0001g0054others(9): Show | 19 | 410 | 0.0463 | 10 | c.-14 others(27): Show |
CAPG | ENSG00000042493.16 | transcript | ENST00000263867.9 | protein_coding | 1/9 | chr2 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44162368 | G | GACACACA others(3): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0281 | 1 | 460 | 0.0022 | 10 | c.16+ others(25): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAPN11_chr6_44153820_44189401 | 44181574 | C | CCACACTC others(3): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01358.hp2 HG01496.hp2 others(9): Show |
a0001a0019 | a0001c0001a0019c0022 | a0001c0001t0001a0001c0001t0002a0019c0022t0002 | a0001c0001t0001g0408a0001c0001t0002g0052a0001c0001t0002g0142others(9): Show | 12 | 460 | 0.0261 | 10 | c.193 others(27): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAPN11_chr6_44153820_44189401 | 44181824 | C | CCACACTC others(3): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(83): Show |
a0001a0002a0004others(4): Show | a0001c0001a0002c0002a0004c0004others(4): Show | a0001c0001t0001a0002c0002t0001a0004c0004t0001others(7): Show | a0001c0001t0001g0024a0001c0001t0001g0411a0002c0002t0001g0007others(78): Show | 86 | 460 | 0.1870 | 10 | c.193 others(27): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAPN11_chr6_44153820_44189401 | 44182044 | C | CACACACA others(3): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02145.hp1 HG02622.hp1 others(2): Show |
a0003a0008 | a0003c0003a0008c0008 | a0003c0003t0002a0008c0008t0002 | a0003c0003t0002g0377a0003c0003t0002g0378a0003c0003t0002g0379others(2): Show | 5 | 460 | 0.0109 | 10 | c.193 others(27): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAPN11_chr6_44153820_44189401 | 44182049 | A | ACACACAC others(3): Show |
intron_variant | MODIFIER | HG01069.hp2 HG03579.hp2 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0137a0003c0003t0002g0138 | 2 | 460 | 0.0044 | 10 | c.193 others(27): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAPN11_chr6_44153820_44189401 | 44187410 | G | GTGATCAT others(3): Show |
downstream_gene_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 460 | 0.0022 | 10 | c.*34 others(21): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 3010 | chr6 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44187536 | G | GGTGTGTG others(3): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG01255.hp1 others(6): Show |
a0001a0003a0004 | a0001c0001a0001c0011a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0011t0001others(2): Show | a0001c0001t0001g0002a0001c0001t0002g0259a0001c0011t0001g0037others(6): Show | 9 | 460 | 0.0196 | 10 | c.*36 others(21): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 3136 | chr6 | TogoVar |