| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CAMSAP2_chr1_200733893_200865704 | 200785383 | TTTTTCTT others(3): Show |
T | intron_variant | MODIFIER | HG01884.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0003a0001c0001t0012g0004 | 2 | 366 | 0.0055 | -10 | c.400 others(29): Show |
CAMSAP2 | ENSG00000118200.15 | transcript | ENST00000358823.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CAMSAP2_chr1_200733893_200865704 | 200791802 | CTAAAAAT others(3): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG02723.hp2 HG02896.hp1 |
a0004 | a0004c0005a0004c0006 | a0004c0005t0014a0004c0006t0016 | a0004c0005t0014g0023a0004c0005t0014g0024a0004c0006t0016g0005 | 3 | 366 | 0.0082 | -10 | c.400 others(29): Show |
CAMSAP2 | ENSG00000118200.15 | transcript | ENST00000358823.7 | protein_coding | 2/16 | chr1 | TogoVar | ||||||
| CAMSAP2_chr1_200733893_200865704 | 200806765 | GTATCTAT others(3): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG01071.hp1 NA18939.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0362a0001c0002t0002g0133a0001c0002t0002g0141 | 3 | 366 | 0.0082 | -10 | c.400 others(25): Show |
CAMSAP2 | ENSG00000118200.15 | transcript | ENST00000358823.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CAMSAP2_chr1_200733893_200865704 | 200853000 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00438.hp1 others(63): Show |
a0001a0006a0008 | a0001c0001a0006c0007a0008c0009 | a0001c0001t0003a0001c0001t0005a0001c0001t0012others(5): Show | a0001c0001t0003g0031a0001c0001t0003g0032a0001c0001t0003g0033others(63): Show | 66 | 366 | 0.1803 | -10 | c.360 others(27): Show |
CAMSAP2 | ENSG00000118200.15 | transcript | ENST00000358823.7 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CAMSAP3_chr19_7590863_7623304 | 7601711 | CTAAAATA others(3): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG02559.hp1 HG02630.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0063a0001c0003t0001g0003a0001c0003t0001g0058others(3): Show | 8 | 358 | 0.0224 | -10 | c.149 others(27): Show |
CAMSAP3 | ENSG00000076826.10 | transcript | ENST00000160298.9 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CAMTA1_chr1_6780454_7774706 | 6836572 | CATGTGTG others(3): Show |
C | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0006 | 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 | 6884289 | GAGACACA others(3): Show |
G | intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 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 | 6884291 | GACACACA others(3): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG02132.hp1 HG02523.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0021a0001c0003t0001a0002c0004t0018 | a0001c0001t0021g0014a0001c0003t0001g0004a0001c0003t0001g0012others(1): Show | 4 | 58 | 0.0690 | -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 | GCACACAC others(3): Show |
G | intron_variant | MODIFIER | HG03486.hp2 NA19043.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0011a0001c0006t0005 | a0001c0001t0011g0058a0001c0006t0005g0057 | 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 | 6904733 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0034 | 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 | 6905188 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0034 | 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 | 7089532 | CCCCATCC others(3): Show |
C | intron_variant | MODIFIER | HG01496.hp1 HG02723.hp2 HG03688.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0024a0001c0001t0002g0001a0001c0001t0003g0022 | 3 | 58 | 0.0517 | -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 | 7102023 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG02647.hp1 HG02922.hp2 |
a0001 | a0001c0002a0001c0017 | a0001c0002t0004a0001c0017t0026 | a0001c0002t0004g0030a0001c0017t0026g0027 | 2 | 58 | 0.0345 | -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 | 7139152 | AATATAAA others(3): Show |
A | intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0004 | 1 | 58 | 0.0172 | -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 | 7239635 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0025 | 1 | 58 | 0.0172 | -10 | 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 | 7270244 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02630.hp1 HG03225.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0002g0002a0001c0001t0004g0026a0001c0001t0005g0038others(1): Show | 4 | 58 | 0.0690 | -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 | 7281799 | TTGTGTGT others(3): Show |
T | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0017 | a0001c0017t0026 | a0001c0017t0026g0027 | 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 | 7309287 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02622.hp1 HG02723.hp2 |
a0001 | a0001c0001a0001c0005a0001c0006 | a0001c0001t0002a0001c0005t0005a0001c0006t0001 | a0001c0001t0002g0001a0001c0005t0005g0044a0001c0006t0001g0055 | 3 | 58 | 0.0517 | -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 | 7310702 | CTTTCTTT others(3): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG03225.hp2 HG03453.hp2 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0013a0001c0002t0006a0001c0003t0008 | a0001c0001t0013g0054a0001c0002t0006g0008a0001c0003t0008g0032 | 3 | 58 | 0.0517 | -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 | 7394811 | TTGTGTGT others(3): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02280.hp2 |
a0001 | a0001c0002a0001c0016 | a0001c0002t0006a0001c0016t0024 | a0001c0002t0006g0008a0001c0016t0024g0053 | 2 | 58 | 0.0345 | -10 | c.439 others(29): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CAMTA1_chr1_6780454_7774706 | 7398185 | CTCTCTCT others(3): Show |
C | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0005 | a0001c0005t0009 | a0001c0005t0009g0050 | 1 | 58 | 0.0172 | -10 | c.439 others(29): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CAMTA1_chr1_6780454_7774706 | 7398193 | CTATATAT others(3): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG02523.hp1 HG03688.hp1 |
a0001a0002 | a0001c0003a0001c0009a0002c0004 | a0001c0003t0001a0001c0009t0019a0002c0004t0011 | a0001c0003t0001g0004a0001c0009t0019g0039a0002c0004t0011g0005 | 3 | 58 | 0.0517 | -10 | c.439 others(29): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CAMTA1_chr1_6780454_7774706 | 7410959 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0020 | 1 | 58 | 0.0172 | -10 | c.439 others(29): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CAMTA1_chr1_6780454_7774706 | 7542838 | AGTGTGTG others(3): Show |
A | intron_variant | MODIFIER | NA19043.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0012 | a0001c0001t0011g0058a0001c0001t0012g0051 | 2 | 58 | 0.0345 | -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 | 7547348 | GCACACAC others(3): Show |
G | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0035 | 1 | 58 | 0.0172 | -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 | 7632019 | TCGCCCAG others(3): Show |
T | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0006 | a0001c0006t0005 | a0001c0006t0005g0057 | 1 | 58 | 0.0172 | -10 | c.511 others(27): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CAMTA2_chr17_4962997_4992675 | 4963451 | ATTTTTTT others(3): Show |
A | downstream_gene_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 380 | 0.0026 | -10 | c.*52 others(21): Show |
CAMTA2 | ENSG00000108509.21 | transcript | ENST00000348066.8 | protein_coding | 4545 | chr17 | TogoVar | ||||||
| CANT1_chr17_78986716_79014764 | 78987377 | CTTTTTTT others(3): Show |
C | downstream_gene_variant | MODIFIER | HG02280.hp2 HG02886.hp1 HG02895.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0006a0001c0002t0013others(1): Show | a0001c0002t0003g0212a0001c0002t0006g0260a0001c0002t0013g0053others(1): Show | 5 | 394 | 0.0127 | -10 | c.*61 others(21): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 4338 | chr17 | TogoVar | ||||||
| CANT1_chr17_78986716_79014764 | 78999642 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0023 | a0001c0002t0005g0079a0001c0002t0023g0255 | 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 | 40037391 | ATTTCTTT others(3): Show |
A | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG01071.hp1 others(84): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(10): Show | a0001c0001t0001g0091a0001c0001t0003g0006a0001c0001t0003g0019others(64): Show | 87 | 378 | 0.2302 | -10 | c.-34 others(21): Show |
CAP1 | ENSG00000131236.18 | transcript | ENST00000372805.8 | protein_coding | 3337 | chr1 | TogoVar | ||||||
| CAP1_chr1_40035729_40077648 | 40059648 | AACACAAG others(3): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01952.hp2 HG01975.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034a0001c0001t0001g0037a0001c0001t0001g0103others(1): Show | 6 | 378 | 0.0159 | -10 | c.112 others(25): Show |
CAP1 | ENSG00000131236.18 | transcript | ENST00000372805.8 | protein_coding | 2/12 | chr1 | TogoVar | ||||||
| CAP2_chr6_17388595_17562780 | 17437261 | CTGGTCTA others(3): Show |
C | intron_variant | MODIFIER | HG02486.hp1 HG02630.hp2 HG03098.hp2 |
a0001 | a0001c0002a0001c0008 | a0001c0002t0001a0001c0008t0001 | a0001c0002t0001g0144a0001c0002t0001g0145a0001c0008t0001g0051 | 3 | 206 | 0.0146 | -10 | c.222 others(29): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 3/12 | chr6 | TogoVar | ||||||
| CAP2_chr6_17388595_17562780 | 17476864 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 206 | 0.0049 | -10 | c.300 others(29): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CAP2_chr6_17388595_17562780 | 17482507 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG01167.hp2 HG01192.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0018a0001c0001t0001g0074a0001c0001t0001g0075others(12): Show | 15 | 206 | 0.0728 | -10 | c.300 others(29): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CAP2_chr6_17388595_17562780 | 17500340 | AATATATA others(3): Show |
A | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0047 | 1 | 206 | 0.0049 | -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 | 17537237 | GGTACAGT others(3): Show |
G | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0092 | 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 | |||||
| CAP2_chr6_17388595_17562780 | 17560998 | GCAAAAAA others(3): Show |
G | downstream_gene_variant | MODIFIER | HG00642.hp1 HG00735.hp2 HG01243.hp1 others(11): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0008others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0008t0001others(4): Show | a0001c0001t0001g0036a0001c0001t0001g0040a0001c0001t0001g0052others(11): Show | 14 | 206 | 0.0680 | -10 | c.*45 others(21): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 3219 | chr6 | TogoVar | ||||||
| CAPG_chr2_85389753_85415366 | 85408338 | TCACACAC others(3): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG01167.hp1 HG02083.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0006a0001c0002t0001g0092 | 7 | 410 | 0.0171 | -10 | c.-14 others(27): Show |
CAPG | ENSG00000042493.16 | transcript | ENST00000263867.9 | protein_coding | 1/9 | chr2 | TogoVar | ||||||
| CAPN11_chr6_44153820_44189401 | 44181464 | CACACTCA others(3): Show |
C | intron_variant | MODIFIER | HG03209.hp2 HG03540.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0002 | a0001c0001t0001g0278a0003c0003t0002g0381 | 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 | 44181994 | CCACACTC others(3): Show |
C | intron_variant | MODIFIER | HG02615.hp1 | a0008 | a0008c0008 | a0008c0008t0002 | a0008c0008t0002g0428 | 1 | 460 | 0.0022 | -10 | c.193 others(27): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CAPN12_chr19_38725192_38749474 | 38731075 | CCCATGCC others(3): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG00735.hp1 others(22): Show |
a0002a0023 | a0002c0004a0023c0028 | a0002c0004t0001a0002c0004t0018a0023c0028t0001 | a0002c0004t0001g0048a0002c0004t0001g0053a0002c0004t0001g0054others(22): Show | 25 | 342 | 0.0731 | -10 | c.207 others(25): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 19/20 | chr19 | TogoVar | ||||||
| CAPN12_chr19_38725192_38749474 | 38735697 | CGGGGGTT others(3): Show |
C | intron_variant | MODIFIER | HG02735.hp2 HG03710.hp2 |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0008a0004c0008t0008 | a0001c0001t0008g0259a0004c0008t0008g0258 | 2 | 342 | 0.0059 | -10 | c.158 others(27): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | ||||||
| CAPN12_chr19_38725192_38749474 | 38735737 | CGGGGGTT others(3): Show |
C | intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0194 | 1 | 342 | 0.0029 | -10 | c.158 others(27): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | ||||||
| CAPN12_chr19_38725192_38749474 | 38735757 | CGGGGGTT others(3): Show |
C | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0203 | 1 | 342 | 0.0029 | -10 | c.158 others(27): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | ||||||
| CAPN12_chr19_38725192_38749474 | 38735827 | CGGGGGTT others(3): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG01243.hp2 HG02559.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0064a0001c0001t0009g0254a0001c0001t0009g0255 | 3 | 342 | 0.0088 | -10 | c.158 others(27): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | ||||||
| CAPN12_chr19_38725192_38749474 | 38735837 | GGGGGCGG others(3): Show |
G | intron_variant | MODIFIER | HG02735.hp2 HG03710.hp2 |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0008a0004c0008t0008 | a0001c0001t0008g0259a0004c0008t0008g0258 | 2 | 342 | 0.0059 | -10 | c.158 others(27): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | ||||||
| CAPN12_chr19_38725192_38749474 | 38735858 | GGTGGTTC others(3): Show |
G | intron_variant | MODIFIER | HG00544.hp2 HG01981.hp1 HG02809.hp2 others(6): Show |
a0001 | a0001c0001a0001c0003a0001c0024 | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(2): Show | a0001c0001t0001g0110a0001c0001t0001g0113a0001c0001t0001g0122others(6): Show | 9 | 342 | 0.0263 | -10 | c.158 others(27): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | ||||||
| CAPN12_chr19_38725192_38749474 | 38735867 | GCGGGCGG others(3): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG01175.hp1 HG01243.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0001g0153a0001c0001t0003g0307a0001c0001t0006g0257others(4): Show | 7 | 342 | 0.0205 | -10 | c.158 others(27): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | ||||||
| CAPN12_chr19_38725192_38749474 | 38735868 | CGGGCGGG others(3): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG01891.hp2 HG02055.hp1 others(30): Show |
a0001a0004a0010others(2): Show | a0001c0001a0001c0003a0004c0037others(3): Show | a0001c0001t0001a0001c0003t0002a0004c0037t0002others(3): Show | a0001c0001t0001g0149a0001c0003t0002g0007a0001c0003t0002g0008others(24): Show | 33 | 342 | 0.0965 | -10 | c.158 others(27): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | ||||||
| CAPN12_chr19_38725192_38749474 | 38735897 | CGGGGGTT others(3): Show |
C | intron_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0275 | 1 | 342 | 0.0029 | -10 | c.158 others(27): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar |