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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CAMTA1_chr1_6780454_7774706 | 6789804 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG01496.hp1 HG02004.hp1 |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0003a0003c0008t0007 | a0001c0001t0003g0022 a0003c0008t0007g0023 |
2 | 58 | 0.0345 | -12 | c.45+ others(27): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 6884291 | GACACACA others(5): Show |
G | intron_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 58 | 0.0172 | -12 | c.234 others(31): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 6899550 | GCGCGCAC others(5): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02257.hp2 HG02280.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(1): Show | a0001c0001t0001g0007 a0001c0001t0002g0009 a0001c0002t0003g0006 others(1): Show |
4 | 58 | 0.0690 | -12 | c.234 others(31): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 6899552 | GCGCACAC others(5): Show |
G | intron_variant | MODIFIER | HG03041.hp2 | a0007 | a0007c0013 | a0007c0013t0009 | a0007c0013t0009g0033 | 1 | 58 | 0.0172 | -12 | c.234 others(31): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 6902066 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02622.hp2 HG03225.hp1 others(4): Show |
a0001a0009 | a0001c0001a0001c0002a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0001g0024 a0001c0001t0004g0026 a0001c0001t0005g0038 others(4): Show |
7 | 58 | 0.1207 | -12 | c.234 others(31): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 6926438 | CTCTTTCT others(5): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG02132.hp2 HG02451.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0040 a0001c0001t0002g0046 a0001c0001t0005g0038 others(6): Show |
9 | 58 | 0.1552 | -12 | c.234 others(33): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7002967 | GGAACATG others(5): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02922.hp2 HG03225.hp1 others(2): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0012 | a0001c0001t0005a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0005g0038 a0001c0002t0001g0020 a0001c0002t0002g0016 others(2): Show |
5 | 58 | 0.0862 | -12 | c.235 others(31): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7033893 | CTATTCTT others(5): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02132.hp1 HG02280.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(4): Show | a0001c0001t0001g0024 a0001c0001t0002g0009 a0001c0002t0003g0006 others(5): Show |
8 | 58 | 0.1379 | -12 | c.235 others(31): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7102023 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG03130.hp1 HG03453.hp1 others(1): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0012 | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0002g0009 a0001c0002t0001g0020 a0001c0002t0002g0016 others(1): Show |
4 | 58 | 0.0690 | -12 | c.302 others(31): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7197628 | CCACACAC others(5): Show |
C | intron_variant | MODIFIER | HG03704.hp1 | a0008 | a0008c0014 | a0008c0014t0001 | a0008c0014t0001g0041 | 1 | 58 | 0.0172 | -12 | c.303 others(31): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7208400 | ATTGAGTA others(5): Show |
A | intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0014 | 1 | 58 | 0.0172 | -12 | c.303 others(31): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7242771 | AAAATAAA others(5): Show |
A | intron_variant | MODIFIER | HG00558.hp2 HG00735.hp1 HG01243.hp2 others(24): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0013 others(24): Show |
27 | 58 | 0.4655 | -12 | 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 | 7270244 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG01496.hp2 HG01884.hp2 HG02055.hp2 others(7): Show |
a0001a0005a0007 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0011others(7): Show | a0001c0001t0001g0024 a0001c0001t0007g0021 a0001c0001t0011g0058 others(7): Show |
10 | 58 | 0.1724 | -12 | c.438 others(31): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7281799 | TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 58 | 0.0172 | -12 | c.438 others(31): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7284168 | CTTCTTCT others(5): Show |
C | intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0008 | 1 | 58 | 0.0172 | -12 | c.438 others(31): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7284171 | CTTCTTCT others(5): Show |
C | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0035 | 1 | 58 | 0.0172 | -12 | c.438 others(31): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7284174 | CTTCTTAT others(5): Show |
C | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0016 | 1 | 58 | 0.0172 | -12 | c.438 others(31): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7284177 | CTTATTAT others(5): Show |
C | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0032 | 1 | 58 | 0.0172 | -12 | c.438 others(31): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7340716 | GCATCCAT others(5): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02257.hp2 others(8): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(6): Show | a0001c0001t0001g0007 a0001c0001t0002g0036 a0001c0001t0002g0046 others(8): Show |
11 | 58 | 0.1897 | -12 | c.438 others(31): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7382830 | TGATAGAT others(5): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG02622.hp1 HG02723.hp2 |
a0001 | a0001c0001a0001c0005a0001c0006 | a0001c0001t0002a0001c0005t0005a0001c0006t0001 | a0001c0001t0002g0001 a0001c0005t0005g0044 a0001c0006t0001g0055 |
3 | 58 | 0.0517 | -12 | c.439 others(31): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7390001 | AGCCTGGC others(5): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG01243.hp2 HG02622.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0002a0001c0001t0020a0001c0003t0005others(3): Show | a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0020g0049 others(4): Show |
7 | 58 | 0.1207 | -12 | c.439 others(31): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7398187 | CTCTCTCT others(5): Show |
C | intron_variant | MODIFIER | HG02004.hp2 | a0002 | a0002c0004 | a0002c0004t0017 | a0002c0004t0017g0042 | 1 | 58 | 0.0172 | -12 | c.439 others(31): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7398189 | CTCTCTAT others(5): Show |
C | intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0020 | 1 | 58 | 0.0172 | -12 | c.439 others(31): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7398193 | CTATATAT others(5): Show |
C | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 58 | 0.0172 | -12 | c.439 others(31): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7542838 | AGTGTGTG others(5): Show |
A | intron_variant | MODIFIER | HG02523.hp2 HG03704.hp2 NA19043.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0015others(1): Show | a0001c0001t0001g0011 a0001c0001t0002g0046 a0001c0001t0015g0037 others(1): Show |
4 | 58 | 0.0690 | -12 | c.510 others(31): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7602080 | TTTCCTTC others(5): Show |
T | intron_variant | MODIFIER | NA20805.hp1 NA20805.hp2 |
a0002a0009 | a0002c0004a0009c0011 | a0002c0004t0018a0009c0011t0016 | a0002c0004t0018g0015 a0009c0011t0016g0029 |
2 | 58 | 0.0345 | -12 | c.511 others(31): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7654798 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG00735.hp1 HG00735.hp2 others(25): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0015a0002c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0013 others(25): Show |
28 | 58 | 0.4828 | -12 | c.665 others(29): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7654973 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG02004.hp1 HG02622.hp2 others(1): Show |
a0001a0003 | a0001c0001a0001c0010a0001c0017others(1): Show | a0001c0001t0003a0001c0010t0004a0001c0017t0026others(1): Show | a0001c0001t0003g0047 a0001c0010t0004g0031 a0001c0017t0026g0027 others(1): Show |
4 | 58 | 0.0690 | -12 | c.665 others(29): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7655590 | CCCTATAC others(5): Show |
C | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0035 | 1 | 58 | 0.0172 | -12 | c.665 others(29): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7655614 | CCACACAC others(5): Show |
C | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0049 | 1 | 58 | 0.0172 | -12 | c.665 others(29): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7748238 | AAAACAAA others(5): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG01243.hp1 others(24): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0002g0002 others(24): Show |
27 | 58 | 0.4655 | -12 | c.468 others(29): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAND2_chr3_12791680_12839803 | 12819118 | CGTCCTTG others(5): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG03139.hp2 NA18522.hp1 |
a0001a0004 | a0001c0007a0004c0003 | a0001c0007t0002a0004c0003t0001 | a0001c0007t0002g0200 a0004c0003t0001g0054 a0004c0003t0001g0055 |
3 | 378 | 0.0079 | -12 | c.294 others(29): Show |
CAND2 | ENSG00000144712.13 | transcript | ENST00000456430.6 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CANT1_chr17_78986716_79014764 | 79004464 | GGGAGGGG others(5): Show |
G | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 394 | 0.0025 | -12 | c.-14 others(31): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
CANT1_chr17_78986716_79014764 | 79004869 | AGAGGAGT others(5): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG00621.hp2 HG01433.hp2 others(27): Show |
a0001 | a0001c0002a0001c0003a0001c0007 | a0001c0002t0002a0001c0002t0003a0001c0002t0006others(2): Show | a0001c0002t0002g0013 a0001c0002t0002g0061 a0001c0002t0002g0062 others(17): Show |
30 | 394 | 0.0761 | -12 | c.-14 others(31): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
CANT1_chr17_78986716_79014764 | 79005087 | GGAGTTAG others(5): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG01952.hp1 HG01981.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0014 a0001c0002t0003g0020 |
7 | 394 | 0.0178 | -12 | c.-14 others(31): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
CAP1_chr1_40035729_40077648 | 40049178 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 378 | 0.0027 | -12 | c.-11 others(29): Show |
CAP1 | ENSG00000131236.18 | transcript | ENST00000372805.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAP2_chr6_17388595_17562780 | 17405498 | GTCTCTCT others(5): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG01167.hp2 HG01243.hp1 others(27): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0006others(8): Show | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0074 others(27): Show |
30 | 206 | 0.1456 | -12 | c.-2+ others(29): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAP2_chr6_17388595_17562780 | 17461992 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0135 | 1 | 206 | 0.0049 | -12 | c.223 others(27): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAP2_chr6_17388595_17562780 | 17482507 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 206 | 0.0049 | -12 | c.300 others(31): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAP2_chr6_17388595_17562780 | 17500340 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | HG02083.hp1 HG03834.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0020 a0001c0001t0002g0021 |
2 | 206 | 0.0097 | -12 | c.301 others(29): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAPN13_chr2_30717771_30812446 | 30737966 | GACACACA others(5): Show |
G | intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0112 | 1 | 384 | 0.0026 | -12 | c.165 others(29): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 17/22 | chr2 | TogoVar | |||||||
CAPN13_chr2_30717771_30812446 | 30759048 | TTCCTTCC others(5): Show |
T | intron_variant | MODIFIER | HG04204.hp1 | a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0031 | 1 | 384 | 0.0026 | -12 | c.775 others(27): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 7/22 | chr2 | TogoVar | |||||||
CAPN13_chr2_30717771_30812446 | 30800116 | AAAAGAAA others(5): Show |
A | intron_variant | MODIFIER | HG01928.hp2 HG02027.hp1 HG02622.hp1 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0134 a0001c0001t0001g0238 a0001c0001t0002g0104 others(10): Show |
13 | 384 | 0.0339 | -12 | c.-33 others(29): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
CAPN14_chr2_31168056_31222515 | 31181378 | TTTTCTTT others(5): Show |
T | intron_variant | MODIFIER | HG01070.hp1 HG01261.hp1 HG02572.hp2 |
a0002a0004 | a0002c0004a0004c0006 | a0002c0004t0001a0004c0006t0005 | a0002c0004t0001g0134 a0002c0004t0001g0191 a0004c0006t0005g0091 |
3 | 326 | 0.0092 | -12 | c.164 others(29): Show |
CAPN14 | ENSG00000214711.10 | transcript | ENST00000403897.4 | protein_coding | 16/21 | chr2 | TogoVar | |||||||
CAPN14_chr2_31168056_31222515 | 31181398 | TTTTCTTT others(5): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG03130.hp1 NA18939.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0034 | a0001c0001t0002a0001c0001t0010a0001c0003t0015others(1): Show | a0001c0001t0002g0069 a0001c0001t0010g0180 a0001c0003t0015g0288 others(1): Show |
4 | 326 | 0.0123 | -12 | c.164 others(29): Show |
CAPN14 | ENSG00000214711.10 | transcript | ENST00000403897.4 | protein_coding | 16/21 | chr2 | TogoVar | |||||||
CAPN1_chr11_65176928_65217006 | 65216709 | GTGGGTGA others(5): Show |
G | downstream_gene_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 394 | 0.0025 | -12 | c.*54 others(23): Show |
CAPN1 | ENSG00000014216.16 | transcript | ENST00000279247.11 | protein_coding | 4704 | chr11 | TogoVar | |||||||
CAPN2_chr1_223707539_223781018 | 223722281 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00621.hp2 HG00733.hp1 HG00738.hp2 others(36): Show |
a0001a0002a0004others(2): Show | a0001c0002a0001c0003a0001c0010others(6): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0002others(11): Show | a0001c0002t0001g0019 a0001c0002t0001g0323 a0001c0002t0001g0324 others(36): Show |
39 | 378 | 0.1032 | -12 | c.307 others(29): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPN2_chr1_223707539_223781018 | 223730010 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0168 | 1 | 378 | 0.0027 | -12 | c.307 others(31): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPN3_chr15_42354501_42417317 | 42363844 | ACTCGCGC others(5): Show |
A | intron_variant | MODIFIER | HG02572.hp1 HG02717.hp1 HG03098.hp1 others(3): Show |
a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0012 a0003c0005t0001g0013 a0003c0005t0001g0014 others(3): Show |
6 | 306 | 0.0196 | -12 | c.309 others(29): Show |
CAPN3 | ENSG00000092529.26 | transcript | ENST00000397163.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CAPN3_chr15_42354501_42417317 | 42374986 | AATTTATT others(5): Show |
A | intron_variant | MODIFIER | HG01346.hp2 HG02080.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 a0001c0001t0001g0227 |
2 | 306 | 0.0065 | -12 | c.310 others(29): Show |
CAPN3 | ENSG00000092529.26 | transcript | ENST00000397163.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |