| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CAMK4_chr5_111219384_111499886 | 111258740 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00741.hp2 HG01106.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0150 | a0001c0001t0003g0014a0001c0001t0003g0015a0001c0001t0150g0009 | 3 | 246 | 0.0122 | 8 | c.161 others(27): Show |
CAMK4 | ENSG00000152495.11 | transcript | ENST00000282356.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CAMK4_chr5_111219384_111499886 | 111273677 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG02155.hp2 HG02683.hp1 NA18970.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0047a0001c0002t0037a0001c0002t0068others(1): Show | a0001c0001t0047g0071a0001c0002t0037g0050a0001c0002t0068g0073others(1): Show | 4 | 246 | 0.0163 | 8 | c.161 others(27): Show |
CAMK4 | ENSG00000152495.11 | transcript | ENST00000282356.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CAMK4_chr5_111219384_111499886 | 111317898 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01361.hp1 HG03041.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0011a0001c0001t0032a0001c0001t0128others(2): Show | a0001c0001t0011g0168a0001c0001t0032g0246a0001c0001t0128g0061others(2): Show | 5 | 246 | 0.0203 | 8 | c.162 others(27): Show |
CAMK4 | ENSG00000152495.11 | transcript | ENST00000282356.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CAMK4_chr5_111219384_111499886 | 111346482 | T | TTATCTAT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00558.hp2 others(67): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(59): Show | a0001c0001t0001g0013a0001c0001t0001g0113a0001c0001t0002g0199others(67): Show | 70 | 246 | 0.2846 | 8 | c.240 others(25): Show |
CAMK4 | ENSG00000152495.11 | transcript | ENST00000282356.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CAMK4_chr5_111219384_111499886 | 111346822 | A | AAAACAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00438.hp2 others(107): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(82): Show | a0001c0001t0001g0130a0001c0001t0001g0137a0001c0001t0001g0177others(107): Show | 110 | 246 | 0.4472 | 8 | c.240 others(25): Show |
CAMK4 | ENSG00000152495.11 | transcript | ENST00000282356.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CAMK4_chr5_111219384_111499886 | 111352637 | C | CAGAGAGA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00609.hp2 others(86): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(69): Show | a0001c0001t0001g0130a0001c0001t0001g0137a0001c0001t0001g0177others(86): Show | 89 | 246 | 0.3618 | 8 | c.240 others(25): Show |
CAMK4 | ENSG00000152495.11 | transcript | ENST00000282356.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CAMK4_chr5_111219384_111499886 | 111355486 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG00609.hp1 others(56): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(48): Show | a0001c0001t0001g0130a0001c0001t0004g0203a0001c0001t0011g0027others(56): Show | 59 | 246 | 0.2398 | 8 | c.240 others(27): Show |
CAMK4 | ENSG00000152495.11 | transcript | ENST00000282356.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CAMK4_chr5_111219384_111499886 | 111396631 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00673.hp1 HG01074.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0017others(18): Show | a0001c0001t0001g0177a0001c0001t0002g0224a0001c0001t0017g0196others(21): Show | 24 | 246 | 0.0976 | 8 | c.459 others(25): Show |
CAMK4 | ENSG00000152495.11 | transcript | ENST00000282356.9 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CAMK4_chr5_111219384_111499886 | 111397649 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02559.hp2 HG03453.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0095a0001c0001t0109others(2): Show | a0001c0001t0010g0007a0001c0001t0095g0192a0001c0001t0109g0219others(2): Show | 5 | 246 | 0.0203 | 8 | c.459 others(25): Show |
CAMK4 | ENSG00000152495.11 | transcript | ENST00000282356.9 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CAMK4_chr5_111219384_111499886 | 111406194 | T | TTCTCTCT others(1): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02080.hp2 HG02809.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0041a0001c0001t0043a0001c0001t0045others(4): Show | a0001c0001t0041g0003a0001c0001t0043g0216a0001c0001t0045g0217others(4): Show | 7 | 246 | 0.0285 | 8 | c.459 others(27): Show |
CAMK4 | ENSG00000152495.11 | transcript | ENST00000282356.9 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CAMK4_chr5_111219384_111499886 | 111432662 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 HG04204.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0020a0001c0001t0136 | a0001c0001t0001g0137a0001c0001t0020g0054a0001c0001t0020g0055others(1): Show | 4 | 246 | 0.0163 | 8 | c.460 others(27): Show |
CAMK4 | ENSG00000152495.11 | transcript | ENST00000282356.9 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CAMK4_chr5_111219384_111499886 | 111467934 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00609.hp2 HG00673.hp2 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0013a0001c0001t0001g0113a0001c0001t0002g0126others(34): Show | 37 | 246 | 0.1504 | 8 | c.626 others(25): Show |
CAMK4 | ENSG00000152495.11 | transcript | ENST00000282356.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CAMK4_chr5_111219384_111499886 | 111480249 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00609.hp2 others(45): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0013a0001c0001t0001g0113a0001c0001t0002g0126others(45): Show | 48 | 246 | 0.1951 | 8 | c.828 others(25): Show |
CAMK4 | ENSG00000152495.11 | transcript | ENST00000282356.9 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CAMK4_chr5_111219384_111499886 | 111486500 | A | AACACACA others(1): Show |
3_prime_UTR_variant | MODIFIER | HG02055.hp2 HG02280.hp2 HG02602.hp2 others(5): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0017a0001c0001t0059a0001c0001t0060others(5): Show | a0001c0001t0017g0196a0001c0001t0059g0082a0001c0001t0060g0239others(5): Show | 8 | 246 | 0.0325 | 8 | c.*20 others(19): Show |
CAMK4 | ENSG00000152495.11 | transcript | ENST00000282356.9 | protein_coding | 11/11 | 2077 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||
| CAMK4_chr5_111219384_111499886 | 111486542 | C | CACACACA others(1): Show |
3_prime_UTR_variant | MODIFIER | HG00558.hp2 HG00735.hp1 HG01099.hp1 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0018a0001c0001t0019others(14): Show | a0001c0001t0001g0013a0001c0001t0001g0113a0001c0001t0001g0130others(24): Show | 27 | 246 | 0.1098 | 8 | c.*20 others(19): Show |
CAMK4 | ENSG00000152495.11 | transcript | ENST00000282356.9 | protein_coding | 11/11 | 2077 | chr5 | TogoVar | |||||
| CAMKK1_chr17_3855315_3898053 | 3888913 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG02451.hp1 others(4): Show |
a0001a0005 | a0001c0004a0005c0009 | a0001c0004t0006a0001c0004t0012a0001c0004t0036others(1): Show | a0001c0004t0006g0283a0001c0004t0012g0278a0001c0004t0012g0352others(4): Show | 7 | 446 | 0.0157 | 8 | c.-43 others(25): Show |
CAMKK1 | ENSG00000004660.15 | transcript | ENST00000348335.7 | protein_coding | 1/15 | chr17 | TogoVar | ||||||
| CAMKMT_chr2_44356947_44777592 | 44488843 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00738.hp1 others(31): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0004a0001c0001t0001g0018a0001c0001t0001g0037others(31): Show | 34 | 198 | 0.1717 | 8 | c.376 others(27): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CAMKMT_chr2_44356947_44777592 | 44497709 | A | AAGAGAGA others(1): Show |
intron_variant | MODIFIER | HG02886.hp1 HG02896.hp1 HG02897.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0054a0001c0001t0001g0115a0001c0002t0001g0053others(2): Show | 5 | 198 | 0.0253 | 8 | c.376 others(29): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CAMKMT_chr2_44356947_44777592 | 44503984 | G | GGAGAGAG others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00733.hp2 others(42): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0037a0001c0001t0001g0046others(42): Show | 45 | 198 | 0.2273 | 8 | c.376 others(29): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CAMKMT_chr2_44356947_44777592 | 44546154 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00741.hp1 HG01243.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0106others(11): Show | 14 | 198 | 0.0707 | 8 | c.376 others(29): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CAMKMT_chr2_44356947_44777592 | 44558983 | G | GTATGGAT others(1): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01169.hp2 HG01243.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0052a0001c0001t0001g0091a0001c0001t0001g0108others(11): Show | 14 | 198 | 0.0707 | 8 | c.377 others(29): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | chr2 | TogoVar | ||||||
| CAMKMT_chr2_44356947_44777592 | 44589883 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01884.hp1 HG02922.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0058a0001c0001t0001g0106a0001c0001t0001g0108others(2): Show | 5 | 198 | 0.0253 | 8 | c.377 others(29): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CAMKMT_chr2_44356947_44777592 | 44614936 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02486.hp2 HG02615.hp1 others(8): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0003t0001 | a0001c0001t0001g0061a0001c0001t0001g0068a0001c0001t0001g0071others(8): Show | 11 | 198 | 0.0556 | 8 | c.377 others(27): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CAMKMT_chr2_44356947_44777592 | 44634800 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01243.hp2 HG02615.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004 | a0001c0001t0002g0113a0001c0001t0002g0114a0001c0001t0003g0102others(4): Show | 7 | 198 | 0.0354 | 8 | c.377 others(27): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CAMKMT_chr2_44356947_44777592 | 44673471 | G | GAGGAAGG others(1): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02895.hp1 HG02896.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0041a0001c0001t0001g0046a0001c0001t0001g0050others(16): Show | 19 | 198 | 0.0960 | 8 | c.377 others(27): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CAMKMT_chr2_44356947_44777592 | 44689264 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00733.hp2 others(37): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0002a0001c0001t0001g0041a0001c0001t0001g0046others(37): Show | 40 | 198 | 0.2020 | 8 | c.377 others(27): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CAMKMT_chr2_44356947_44777592 | 44708211 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG02055.hp2 HG02280.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0035a0001c0001t0001g0061others(5): Show | 8 | 198 | 0.0404 | 8 | c.556 others(23): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CAMKMT_chr2_44356947_44777592 | 44723599 | A | AATACATA others(1): Show |
intron_variant | MODIFIER | HG03579.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0021a0001c0001t0002g0022 | 2 | 198 | 0.0101 | 8 | c.623 others(25): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CAMKMT_chr2_44356947_44777592 | 44725143 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02451.hp1 HG02572.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0052a0001c0001t0001g0105a0001c0001t0001g0115others(11): Show | 14 | 198 | 0.0707 | 8 | c.623 others(25): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CAMKMT_chr2_44356947_44777592 | 44768342 | G | GATATATA others(1): Show |
intron_variant | MODIFIER | HG02698.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0103 | 2 | 198 | 0.0101 | 8 | c.894 others(25): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CAMSAP1_chr9_135803487_135912546 | 135820771 | C | CTGCACGT others(1): Show |
intron_variant | MODIFIER | HG00609.hp2 NA18612.hp2 NA18950.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048a0001c0001t0001g0051a0001c0001t0001g0052others(2): Show | 5 | 340 | 0.0147 | 8 | c.382 others(23): Show |
CAMSAP1 | ENSG00000130559.19 | transcript | ENST00000389532.9 | protein_coding | 11/16 | chr9 | TogoVar | ||||||
| CAMSAP1_chr9_135803487_135912546 | 135829850 | C | CATAAATA others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00741.hp1 HG01081.hp2 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0018others(5): Show | a0001c0001t0001g0048a0001c0001t0001g0054a0001c0001t0001g0071others(28): Show | 31 | 340 | 0.0912 | 8 | c.104 others(27): Show |
CAMSAP1 | ENSG00000130559.19 | transcript | ENST00000389532.9 | protein_coding | 7/16 | chr9 | TogoVar | ||||||
| CAMSAP1_chr9_135803487_135912546 | 135868609 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01081.hp1 HG01346.hp1 others(8): Show |
a0001 | a0001c0002a0001c0013 | a0001c0002t0003a0001c0002t0004a0001c0002t0021others(1): Show | a0001c0002t0003g0017a0001c0002t0003g0283a0001c0002t0003g0286others(8): Show | 11 | 340 | 0.0324 | 8 | c.586 others(25): Show |
CAMSAP1 | ENSG00000130559.19 | transcript | ENST00000389532.9 | protein_coding | 3/16 | chr9 | TogoVar | ||||||
| CAMSAP1_chr9_135803487_135912546 | 135892848 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02109.hp1 HG02572.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0010a0001c0002t0002others(1): Show | a0001c0001t0001g0092a0001c0001t0010g0269a0001c0002t0002g0325others(6): Show | 9 | 340 | 0.0265 | 8 | c.161 others(25): Show |
CAMSAP1 | ENSG00000130559.19 | transcript | ENST00000389532.9 | protein_coding | 1/16 | chr9 | TogoVar | ||||||
| CAMSAP2_chr1_200733893_200865704 | 200743940 | C | CAATAAAT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01358.hp2 HG01496.hp2 others(17): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0020 | a0001c0002t0002g0030a0001c0002t0002g0163a0001c0002t0002g0164others(17): Show | 20 | 366 | 0.0546 | 8 | c.139 others(25): Show |
CAMSAP2 | ENSG00000118200.15 | transcript | ENST00000358823.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CAMSAP2_chr1_200733893_200865704 | 200806765 | G | GTATCTAT others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01099.hp2 HG01993.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007 | a0001c0001t0001g0276a0001c0001t0001g0286a0001c0001t0001g0299others(6): Show | 9 | 366 | 0.0246 | 8 | c.400 others(23): Show |
CAMSAP2 | ENSG00000118200.15 | transcript | ENST00000358823.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CAMSAP2_chr1_200733893_200865704 | 200806765 | G | GTGTGTAT others(1): Show |
intron_variant | MODIFIER | NA18964.hp1 NA18983.hp1 NA19085.hp2 |
a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0001a0002c0003t0004g0007 | 3 | 366 | 0.0082 | 8 | c.400 others(23): Show |
CAMSAP2 | ENSG00000118200.15 | transcript | ENST00000358823.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CAMSAP2_chr1_200733893_200865704 | 200817261 | T | TATACACA others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00735.hp2 HG01099.hp2 others(35): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0206a0001c0001t0001g0217a0001c0001t0001g0218others(34): Show | 38 | 366 | 0.1038 | 8 | c.645 others(25): Show |
CAMSAP2 | ENSG00000118200.15 | transcript | ENST00000358823.7 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CAMSAP3_chr19_7590863_7623304 | 7600047 | T | TCATCCAT others(1): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02630.hp1 HG02647.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020a0001c0001t0001g0082a0001c0001t0001g0083others(3): Show | 6 | 358 | 0.0168 | 8 | c.148 others(25): Show |
CAMSAP3 | ENSG00000076826.10 | transcript | ENST00000160298.9 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CAMSAP3_chr19_7590863_7623304 | 7605147 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02258.hp2 HG02451.hp2 others(2): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0003 | a0001c0001t0001g0099a0001c0005t0003g0009a0001c0005t0003g0069others(1): Show | 5 | 358 | 0.0140 | 8 | c.149 others(21): Show |
CAMSAP3 | ENSG00000076826.10 | transcript | ENST00000160298.9 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CAMTA1_chr1_6780454_7774706 | 6884291 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG02004.hp1 HG03579.hp1 |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0002a0007c0008t0007 | a0001c0001t0002g0036a0007c0008t0007g0023 | 2 | 58 | 0.0345 | 8 | c.234 others(27): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CAMTA1_chr1_6780454_7774706 | 6884335 | C | CACACACA others(1): Show |
intron_variant | MODIFIER | HG03225.hp1 HG03704.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0015 | a0001c0001t0005g0038a0001c0001t0015g0037 | 2 | 58 | 0.0345 | 8 | c.234 others(27): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CAMTA1_chr1_6780454_7774706 | 6899554 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG03688.hp2 NA20805.hp1 |
a0001a0008 | a0001c0001a0008c0011 | a0001c0001t0001a0008c0011t0016 | a0001c0001t0001g0024a0008c0011t0016g0029 | 2 | 58 | 0.0345 | 8 | c.234 others(27): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CAMTA1_chr1_6780454_7774706 | 6902039 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG02257.hp1 HG03453.hp1 |
a0001a0006 | a0001c0002a0006c0007 | a0001c0002t0002a0006c0007t0014 | a0001c0002t0002g0016a0006c0007t0014g0018 | 2 | 58 | 0.0345 | 8 | c.234 others(27): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CAMTA1_chr1_6780454_7774706 | 6926438 | C | CTCTTTCT others(1): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01884.hp1 HG02004.hp1 others(1): Show |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0001a0001c0001t0013a0001c0001t0021others(1): Show | a0001c0001t0001g0013a0001c0001t0013g0056a0001c0001t0021g0014others(1): Show | 4 | 58 | 0.0690 | 8 | 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 | 6926685 | T | TTCCTTCC others(1): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00735.hp1 HG01243.hp1 others(36): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0013others(36): Show | 39 | 58 | 0.6724 | 8 | 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 | 7013209 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02622.hp2 HG02723.hp2 others(1): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0002a0001c0001t0013a0001c0010t0004 | a0001c0001t0002g0001a0001c0001t0002g0046a0001c0001t0013g0056others(1): Show | 4 | 58 | 0.0690 | 8 | 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 | 7082440 | A | AATAGATA others(1): Show |
intron_variant | MODIFIER | HG02132.hp1 HG02257.hp2 HG02451.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0007a0001c0001t0001g0024a0001c0001t0002g0001others(11): Show | 14 | 58 | 0.2414 | 8 | c.235 others(25): 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(1): Show |
intron_variant | MODIFIER | HG02004.hp2 HG02257.hp1 HG02280.hp2 others(10): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0003a0001c0001t0008a0001c0001t0015others(10): Show | a0001c0001t0003g0048a0001c0001t0008g0003a0001c0001t0015g0037others(10): Show | 13 | 58 | 0.2241 | 8 | c.302 others(27): 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(1): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02523.hp2 HG03130.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0003t0023a0002c0004t0011 | a0001c0001t0001g0011a0001c0001t0001g0013a0001c0003t0023g0045others(1): Show | 4 | 58 | 0.0690 | 8 | c.303 others(27): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 4/22 | chr1 | TogoVar |