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 | 7221906 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03453.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003 | a0001c0002t0002g0016a0001c0002t0003g0006 | 2 | 58 | 0.0345 | 8 | c.303 others(27): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7242771 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02280.hp2 HG02723.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0003a0001c0002t0004a0001c0002t0006others(1): Show | a0001c0001t0003g0047a0001c0001t0003g0048a0001c0002t0004g0030others(2): Show | 5 | 58 | 0.0862 | 8 | c.303 others(25): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7271565 | G | GAGATAGA others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00735.hp1 HG02004.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0011a0001c0001t0003g0047a0001c0001t0005g0038others(5): Show | 8 | 58 | 0.1379 | 8 | c.438 others(27): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7277456 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00558.hp2 NA20300.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0012a0002c0004t0011 | a0001c0001t0012g0051a0002c0004t0011g0005 | 2 | 58 | 0.0345 | 8 | c.438 others(27): 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(1): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01243.hp2 HG02055.hp1 others(15): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(13): Show | a0001c0001t0001g0013a0001c0001t0002g0001a0001c0001t0002g0009others(15): Show | 18 | 58 | 0.3103 | 8 | c.438 others(27): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7340552 | G | GCCTCCCT others(1): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02132.hp1 HG02523.hp2 others(8): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0015others(6): Show | a0001c0001t0001g0011a0001c0001t0001g0013a0001c0001t0001g0024others(8): Show | 11 | 58 | 0.1897 | 8 | c.438 others(27): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7370914 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02132.hp1 HG02132.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0013a0001c0002t0004others(1): Show | a0001c0001t0001g0040a0001c0001t0013g0056a0001c0002t0004g0030others(1): Show | 4 | 58 | 0.0690 | 8 | c.439 others(27): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7391328 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01884.hp2 NA18999.hp2 NA20300.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0012a0001c0002t0003 | a0001c0001t0001g0013a0001c0001t0012g0051a0001c0002t0003g0006 | 3 | 58 | 0.0517 | 8 | c.439 others(27): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7492670 | C | CACACACA others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG01243.hp1 others(40): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0007a0001c0001t0001g0013a0001c0001t0002g0001others(40): Show | 43 | 58 | 0.7414 | 8 | c.510 others(27): 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(1): Show |
intron_variant | MODIFIER | HG02004.hp1 HG02055.hp2 HG02451.hp1 others(1): Show |
a0001a0007 | a0001c0002a0001c0003a0001c0016others(1): Show | a0001c0002t0003a0001c0003t0001a0001c0016t0024others(1): Show | a0001c0002t0003g0025a0001c0003t0001g0004a0001c0016t0024g0053others(1): Show | 4 | 58 | 0.0690 | 8 | c.510 others(27): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7528802 | G | GATGAATG others(1): Show |
intron_variant | MODIFIER | HG02523.hp2 HG03688.hp1 NA19043.hp2 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0009t0019 | a0001c0001t0001g0011a0001c0001t0002g0046a0001c0009t0019g0039 | 3 | 58 | 0.0517 | 8 | c.510 others(27): 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(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00735.hp2 HG01496.hp2 others(6): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(6): Show | a0001c0001t0001g0007a0001c0001t0003g0047a0001c0001t0007g0021others(6): Show | 9 | 58 | 0.1552 | 8 | c.510 others(27): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7591890 | T | TTATTTAT others(1): Show |
intron_variant | MODIFIER | HG03225.hp1 HG03486.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0005a0001c0006t0005 | a0001c0001t0005g0038a0001c0006t0005g0057 | 2 | 58 | 0.0345 | 8 | c.511 others(27): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7602080 | T | TTTCCTTC others(1): Show |
intron_variant | MODIFIER | HG02523.hp2 HG02647.hp2 HG03041.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0008a0001c0001t0013others(1): Show | a0001c0001t0001g0011a0001c0001t0008g0003a0001c0001t0013g0054others(1): Show | 4 | 58 | 0.0690 | 8 | c.511 others(27): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7607118 | A | AGGATGGA others(1): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02630.hp1 HG03041.hp2 |
a0001a0005 | a0001c0001a0005c0013 | a0001c0001t0002a0001c0001t0020a0005c0013t0009 | a0001c0001t0002g0002a0001c0001t0020g0049a0005c0013t0009g0033 | 3 | 58 | 0.0517 | 8 | c.511 others(27): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7654810 | C | CACACCTA others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02004.hp1 HG02622.hp2 others(2): Show |
a0001a0007 | a0001c0001a0001c0003a0001c0010others(2): Show | a0001c0001t0003a0001c0003t0010a0001c0010t0004others(2): Show | a0001c0001t0003g0047a0001c0003t0010g0035a0001c0010t0004g0031others(2): Show | 5 | 58 | 0.0862 | 8 | c.665 others(25): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7667741 | A | ATGGCAGC others(1): Show |
intron_variant | MODIFIER | HG03579.hp2 NA20300.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0010 | a0001c0002t0001g0020a0001c0003t0010g0035 | 2 | 58 | 0.0345 | 8 | c.265 others(27): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7688011 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02451.hp2 HG02723.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(5): Show | a0001c0001t0002g0046a0001c0001t0003g0022a0001c0001t0003g0048others(6): Show | 9 | 58 | 0.1552 | 8 | c.291 others(29): 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(1): Show |
upstream_gene_variant | MODIFIER | HG02055.hp1 HG02615.hp1 HG02895.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0017a0001c0001t0020a0001c0001t0021others(2): Show | a0001c0001t0017g0044a0001c0001t0017g0045a0001c0001t0017g0046others(4): Show | 7 | 328 | 0.0213 | 8 | c.-22 others(19): Show |
CAND1 | ENSG00000111530.13 | transcript | ENST00000545606.6 | protein_coding | 1932 | chr12 | TogoVar | ||||||
CAND2_chr3_12791680_12839803 | 12823280 | T | TTTTGTTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(210): Show |
a0001a0002a0003others(29): Show | a0001c0005a0001c0007a0001c0017others(42): Show | a0001c0005t0001a0001c0005t0002a0001c0005t0003others(51): Show | a0001c0005t0001g0065a0001c0005t0001g0236a0001c0005t0001g0237others(208): Show | 213 | 378 | 0.5635 | 8 | c.304 others(27): Show |
CAND2 | ENSG00000144712.13 | transcript | ENST00000456430.6 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CANT1_chr17_78986716_79014764 | 78987377 | C | CTTTTTTT others(1): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp2 others(33): Show |
a0001 | a0001c0002a0001c0003a0001c0005others(1): Show | a0001c0002t0002a0001c0002t0006a0001c0002t0007others(4): Show | a0001c0002t0002g0008a0001c0002t0002g0012a0001c0002t0002g0013others(23): Show | 36 | 394 | 0.0914 | 8 | c.*61 others(19): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 4338 | chr17 | TogoVar | ||||||
CAP1_chr1_40035729_40077648 | 40062773 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01071.hp1 HG01071.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0033a0001c0001t0001g0111a0001c0001t0001g0113others(11): Show | 20 | 378 | 0.0529 | 8 | c.294 others(23): Show |
CAP1 | ENSG00000131236.18 | transcript | ENST00000372805.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAP2_chr6_17388595_17562780 | 17436067 | A | ATCTTTCT others(1): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02258.hp1 HG03098.hp2 others(1): Show |
a0001a0004 | a0001c0002a0004c0010 | a0001c0002t0001a0004c0010t0002 | a0001c0002t0001g0002a0001c0002t0001g0011a0001c0002t0001g0144others(1): Show | 4 | 206 | 0.0194 | 8 | c.222 others(25): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAP2_chr6_17388595_17562780 | 17436086 | T | TTTCCTTC others(1): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01243.hp1 HG01884.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0067a0001c0001t0001g0074a0001c0001t0001g0075others(14): Show | 17 | 206 | 0.0825 | 8 | c.222 others(25): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAP2_chr6_17388595_17562780 | 17436086 | T | TTTCTTTC others(1): Show |
intron_variant | MODIFIER | HG01978.hp2 HG03834.hp1 HG03927.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0008a0001c0001t0001g0029a0001c0002t0001g0019 | 3 | 206 | 0.0146 | 8 | c.222 others(25): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAP2_chr6_17388595_17562780 | 17438433 | G | GTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02647.hp2 HG02818.hp1 others(3): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0004others(1): Show | a0001c0001t0001a0001c0003t0001a0002c0004t0002others(1): Show | a0001c0001t0001g0068a0001c0001t0001g0086a0001c0003t0001g0088others(3): Show | 6 | 206 | 0.0291 | 8 | c.222 others(27): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAP2_chr6_17388595_17562780 | 17443574 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00609.hp2 others(47): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(10): Show | a0001c0001t0001g0034a0001c0001t0001g0074a0001c0001t0001g0075others(47): Show | 50 | 206 | 0.2427 | 8 | c.222 others(27): 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(1): Show |
intron_variant | MODIFIER | HG01516.hp1 HG01975.hp1 HG02055.hp2 others(19): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0053a0001c0001t0001g0054a0001c0001t0001g0142others(19): Show | 22 | 206 | 0.1068 | 8 | c.222 others(27): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAP2_chr6_17388595_17562780 | 17469416 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | NA18747.hp1 NA18998.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0126a0001c0001t0002g0175 | 2 | 206 | 0.0097 | 8 | c.300 others(25): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAP2_chr6_17388595_17562780 | 17499398 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02145.hp2 HG02258.hp2 others(2): Show |
a0001 | a0001c0001a0001c0009a0001c0013 | a0001c0001t0001a0001c0009t0001a0001c0013t0001 | a0001c0001t0001g0036a0001c0001t0001g0040a0001c0001t0001g0067others(2): Show | 5 | 206 | 0.0243 | 8 | c.301 others(25): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAP2_chr6_17388595_17562780 | 17499848 | C | CATAAATA others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00642.hp1 others(72): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(20): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0018others(72): Show | 75 | 206 | 0.3641 | 8 | c.301 others(25): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAP2_chr6_17388595_17562780 | 17500340 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01071.hp1 HG01106.hp1 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0008a0001c0001t0001g0028a0001c0001t0001g0029others(15): Show | 18 | 206 | 0.0874 | 8 | c.301 others(25): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAP2_chr6_17388595_17562780 | 17517902 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG01496.hp2 HG03540.hp2 HG03579.hp1 others(2): Show |
a0001 | a0001c0003a0001c0009 | a0001c0003t0001a0001c0009t0001 | a0001c0003t0001g0065a0001c0003t0001g0082a0001c0003t0001g0088others(2): Show | 5 | 206 | 0.0243 | 8 | c.636 others(25): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAPG_chr2_85389753_85415366 | 85397704 | A | AAAAGAAA others(1): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03486.hp2 NA19043.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0088a0001c0003t0001g0161a0001c0003t0001g0162 | 3 | 410 | 0.0073 | 8 | c.892 others(23): Show |
CAPG | ENSG00000042493.16 | transcript | ENST00000263867.9 | protein_coding | 8/9 | chr2 | TogoVar | ||||||
CAPG_chr2_85389753_85415366 | 85408338 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00621.hp2 HG00673.hp2 others(32): Show |
a0001 | a0001c0002a0001c0003a0001c0010 | a0001c0002t0001a0001c0003t0001a0001c0010t0001 | a0001c0002t0001g0010a0001c0002t0001g0016a0001c0002t0001g0031others(20): Show | 35 | 410 | 0.0854 | 8 | c.-14 others(25): Show |
CAPG | ENSG00000042493.16 | transcript | ENST00000263867.9 | protein_coding | 1/9 | chr2 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44177475 | C | CCTTTCTT others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00558.hp2 others(49): Show |
a0002a0009 | a0002c0002a0009c0009 | a0002c0002t0001a0002c0002t0002a0009c0009t0001 | a0002c0002t0001g0003a0002c0002t0001g0007a0002c0002t0001g0040others(47): Show | 52 | 460 | 0.1130 | 8 | c.141 others(23): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAPN11_chr6_44153820_44189401 | 44178749 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00609.hp2 HG02040.hp1 HG02615.hp2 others(9): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0003c0003t0001others(1): Show | a0001c0001t0001g0087a0001c0001t0001g0206a0001c0001t0001g0390others(9): Show | 12 | 460 | 0.0261 | 8 | c.141 others(25): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 12/22 | chr6 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44181574 | C | CCACACTC others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(108): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0003c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(11): Show | a0001c0001t0001g0024a0001c0001t0001g0195a0001c0001t0001g0390others(105): Show | 111 | 460 | 0.2413 | 8 | c.193 others(25): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAPN11_chr6_44153820_44189401 | 44187536 | G | GGTGTGTG others(1): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 HG01168.hp2 HG01928.hp1 others(23): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0003a0004c0004others(2): Show | a0001c0001t0001a0003c0003t0001a0003c0003t0002others(5): Show | a0001c0001t0001g0029a0001c0001t0001g0036a0001c0001t0001g0049others(22): Show | 26 | 460 | 0.0565 | 8 | c.*36 others(19): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 3136 | chr6 | TogoVar | ||||||
CAPN12_chr19_38725192_38749474 | 38736923 | A | ACTCCCCT others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00733.hp2 HG00738.hp1 others(18): Show |
a0003a0024 | a0003c0005a0024c0018 | a0003c0005t0004a0024c0018t0004 | a0003c0005t0004g0018a0003c0005t0004g0019a0003c0005t0004g0020others(18): Show | 21 | 342 | 0.0614 | 8 | c.136 others(25): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 10/20 | chr19 | TogoVar | ||||||
CAPN13_chr2_30717771_30812446 | 30758809 | T | TTCCCTTC others(1): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00673.hp2 HG00738.hp2 others(41): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0010a0001c0001t0001g0038a0001c0001t0001g0094others(40): Show | 44 | 384 | 0.1146 | 8 | c.775 others(23): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 7/22 | chr2 | TogoVar | ||||||
CAPN13_chr2_30717771_30812446 | 30768678 | T | TTTCCTTC others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00597.hp1 HG00621.hp1 others(14): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0004a0004c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0114a0001c0001t0002g0249a0001c0001t0002g0252others(14): Show | 17 | 384 | 0.0443 | 8 | c.524 others(25): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 5/22 | chr2 | TogoVar | ||||||
CAPN13_chr2_30717771_30812446 | 30800116 | A | AAAAGAAA others(1): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00639.hp1 HG00741.hp2 others(64): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0002c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0010a0001c0001t0001g0130a0001c0001t0001g0140others(64): Show | 67 | 384 | 0.1745 | 8 | c.-33 others(25): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 1/22 | chr2 | TogoVar | ||||||
CAPN14_chr2_31168056_31222515 | 31179060 | C | CTATATAT others(1): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01891.hp1 HG01975.hp1 others(5): Show |
a0001a0023 | a0001c0001a0001c0003a0001c0031others(1): Show | a0001c0001t0002a0001c0003t0003a0001c0003t0015others(2): Show | a0001c0001t0002g0008a0001c0001t0002g0063a0001c0003t0003g0206others(4): Show | 8 | 326 | 0.0245 | 8 | c.171 others(25): Show |
CAPN14 | ENSG00000214711.10 | transcript | ENST00000403897.4 | protein_coding | 17/21 | chr2 | TogoVar | ||||||
CAPN14_chr2_31168056_31222515 | 31181386 | T | TTCTCTTT others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00673.hp1 others(26): Show |
a0002a0003a0005others(6): Show | a0002c0002a0002c0004a0002c0012others(11): Show | a0002c0002t0001a0002c0004t0001a0002c0004t0005others(14): Show | a0002c0002t0001g0003a0002c0002t0001g0015a0002c0002t0001g0203others(23): Show | 29 | 326 | 0.0890 | 8 | c.164 others(25): Show |
CAPN14 | ENSG00000214711.10 | transcript | ENST00000403897.4 | protein_coding | 16/21 | chr2 | TogoVar | ||||||
CAPN14_chr2_31168056_31222515 | 31181398 | T | TTTTCTTT others(1): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00738.hp2 HG01167.hp2 others(4): Show |
a0001a0008 | a0001c0001a0001c0036a0008c0008 | a0001c0001t0002a0001c0001t0003a0001c0036t0004others(1): Show | a0001c0001t0002g0106a0001c0001t0002g0108a0001c0001t0003g0169others(4): Show | 7 | 326 | 0.0215 | 8 | c.164 others(25): Show |
CAPN14 | ENSG00000214711.10 | transcript | ENST00000403897.4 | protein_coding | 16/21 | chr2 | TogoVar | ||||||
CAPN14_chr2_31168056_31222515 | 31190137 | T | TTCTCTCT others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00639.hp1 HG00741.hp2 others(65): Show |
a0002a0003a0004others(4): Show | a0002c0002a0002c0004a0002c0012others(9): Show | a0002c0002t0001a0002c0002t0004a0002c0002t0017others(13): Show | a0002c0002t0001g0001a0002c0002t0001g0003a0002c0002t0001g0015others(55): Show | 68 | 326 | 0.2086 | 8 | c.128 others(25): Show |
CAPN14 | ENSG00000214711.10 | transcript | ENST00000403897.4 | protein_coding | 12/21 | chr2 | TogoVar | ||||||
CAPN14_chr2_31168056_31222515 | 31201122 | C | CATGTGTG others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00544.hp2 others(98): Show |
a0001a0002a0004others(8): Show | a0001c0003a0001c0039a0002c0002others(9): Show | a0001c0003t0001a0001c0003t0003a0001c0003t0004others(21): Show | a0001c0003t0001g0215a0001c0003t0003g0196a0001c0003t0003g0197others(86): Show | 101 | 326 | 0.3098 | 8 | c.552 others(23): Show |
CAPN14 | ENSG00000214711.10 | transcript | ENST00000403897.4 | protein_coding | 5/21 | chr2 | TogoVar | ||||||
CAPN14_chr2_31168056_31222515 | 31211671 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG02155.hp2 HG02622.hp2 HG02630.hp2 others(8): Show |
a0001a0012a0025others(2): Show | a0001c0001a0001c0003a0012c0019others(3): Show | a0001c0001t0007a0001c0003t0003a0001c0003t0013others(4): Show | a0001c0001t0007g0110a0001c0001t0007g0111a0001c0003t0003g0247others(7): Show | 11 | 326 | 0.0337 | 8 | c.-53 others(25): Show |
CAPN14 | ENSG00000214711.10 | transcript | ENST00000403897.4 | protein_coding | 1/21 | chr2 | TogoVar | ||||||
CAPN15_chr16_522712_559636 | 551153 | G | GTCCCCTG others(1): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02630.hp2 HG02717.hp1 others(1): Show |
a0001a0004a0009 | a0001c0001a0004c0018a0009c0024 | a0001c0001t0001a0004c0018t0001a0009c0024t0001others(1): Show | a0001c0001t0001g0389a0004c0018t0001g0274a0009c0024t0001g0386others(1): Show | 4 | 410 | 0.0098 | 8 | c.206 others(25): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 7/13 | chr16 | TogoVar |