| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CACNG6_chr19_53986637_54017666 | 54004900 | A | AAAATAAA others(17): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0225 | 1 | 430 | 0.0023 | 24 | c.544 others(41): Show |
CACNG6 | ENSG00000130433.8 | transcript | ENST00000252729.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CACNG6_chr19_53986637_54017666 | 54006091 | A | AAAATAAA others(17): Show |
intron_variant | MODIFIER | HG01993.hp2 NA19091.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0397a0001c0001t0010g0186 | 2 | 430 | 0.0047 | 24 | c.545 others(41): Show |
CACNG6 | ENSG00000130433.8 | transcript | ENST00000252729.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CACNG6_chr19_53986637_54017666 | 54011227 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0401 | 1 | 430 | 0.0023 | 24 | c.545 others(39): Show |
CACNG6 | ENSG00000130433.8 | transcript | ENST00000252729.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CACNG6_chr19_53986637_54017666 | 54011227 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0251 | 1 | 430 | 0.0023 | 24 | c.545 others(39): Show |
CACNG6 | ENSG00000130433.8 | transcript | ENST00000252729.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CACNG6_chr19_53986637_54017666 | 54015396 | T | TTTCCTTC others(17): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 HG02109.hp2 HG02922.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0001t0013a0001c0001t0020others(2): Show | a0001c0001t0012g0082a0001c0001t0012g0238a0001c0001t0013g0076others(3): Show | 6 | 430 | 0.0140 | 24 | c.*32 others(35): Show |
CACNG6 | ENSG00000130433.8 | transcript | ENST00000252729.7 | protein_coding | 2731 | chr19 | TogoVar | ||||||
| CACNG7_chr19_53904278_53948950 | 53906081 | C | CCTTCTTC others(17): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 364 | 0.0028 | 24 | c.-34 others(35): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 3196 | chr19 | TogoVar | ||||||
| CACNG7_chr19_53904278_53948950 | 53906084 | C | CCTCCTCC others(17): Show |
upstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0068 | 1 | 364 | 0.0028 | 24 | c.-34 others(35): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 3193 | chr19 | TogoVar | ||||||
| CACNG7_chr19_53904278_53948950 | 53906084 | C | CCTCCTCC others(17): Show |
upstream_gene_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 364 | 0.0028 | 24 | c.-34 others(35): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 3193 | chr19 | TogoVar | ||||||
| CACNG7_chr19_53904278_53948950 | 53906084 | C | CCTCCTCC others(17): Show |
upstream_gene_variant | MODIFIER | HG01192.hp1 HG01192.hp2 HG01516.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0275a0001c0001t0001g0305a0001c0001t0001g0306others(1): Show | 4 | 364 | 0.0110 | 24 | c.-34 others(35): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 3193 | chr19 | TogoVar | ||||||
| CACNG7_chr19_53904278_53948950 | 53906084 | C | CCTCCTCC others(17): Show |
upstream_gene_variant | MODIFIER | HG01346.hp2 HG02486.hp1 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070a0001c0001t0001g0272a0001c0001t0001g0307 | 3 | 364 | 0.0082 | 24 | c.-34 others(35): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 3193 | chr19 | TogoVar | ||||||
| CACNG7_chr19_53904278_53948950 | 53906084 | C | CCTTCTTC others(17): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0286 | 1 | 364 | 0.0028 | 24 | c.-34 others(35): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 3193 | chr19 | TogoVar | ||||||
| CADM1_chr11_115164236_115509415 | 115284085 | A | ACTCTCTC others(17): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0005 | a0001c0005t0009 | a0001c0005t0009g0073 | 1 | 164 | 0.0061 | 24 | c.125 others(43): Show |
CADM1 | ENSG00000182985.19 | transcript | ENST00000331581.11 | protein_coding | 1/11 | chr11 | TogoVar | ||||||
| CADM1_chr11_115164236_115509415 | 115284087 | A | ACTCTCTC others(17): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0141 | 1 | 164 | 0.0061 | 24 | c.125 others(43): Show |
CADM1 | ENSG00000182985.19 | transcript | ENST00000331581.11 | protein_coding | 1/11 | chr11 | TogoVar | ||||||
| CADM1_chr11_115164236_115509415 | 115284087 | A | ACTCTCTC others(17): Show |
intron_variant | MODIFIER | HG01952.hp1 HG02602.hp2 HG02738.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0055a0001c0001t0002g0071a0001c0001t0002g0078 | 3 | 164 | 0.0183 | 24 | c.125 others(43): Show |
CADM1 | ENSG00000182985.19 | transcript | ENST00000331581.11 | protein_coding | 1/11 | chr11 | TogoVar | ||||||
| CADM1_chr11_115164236_115509415 | 115284114 | C | CTCTCTCT others(17): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0151 | 1 | 164 | 0.0061 | 24 | c.125 others(43): Show |
CADM1 | ENSG00000182985.19 | transcript | ENST00000331581.11 | protein_coding | 1/11 | chr11 | TogoVar | ||||||
| CADM1_chr11_115164236_115509415 | 115306072 | C | CCACACAC others(17): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01192.hp1 HG01256.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0016a0001c0001t0042others(2): Show | a0001c0001t0014g0086a0001c0001t0016g0138a0001c0001t0042g0142others(2): Show | 5 | 164 | 0.0305 | 24 | c.125 others(43): Show |
CADM1 | ENSG00000182985.19 | transcript | ENST00000331581.11 | protein_coding | 1/11 | chr11 | TogoVar | ||||||
| CADM1_chr11_115164236_115509415 | 115306072 | C | CCCCACAC others(17): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0066 | 1 | 164 | 0.0061 | 24 | c.125 others(43): Show |
CADM1 | ENSG00000182985.19 | transcript | ENST00000331581.11 | protein_coding | 1/11 | chr11 | TogoVar | ||||||
| CADM1_chr11_115164236_115509415 | 115340658 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0097 | 1 | 164 | 0.0061 | 24 | c.125 others(45): Show |
CADM1 | ENSG00000182985.19 | transcript | ENST00000331581.11 | protein_coding | 1/11 | chr11 | TogoVar | ||||||
| CADM2_chr3_84953989_86079429 | 85034790 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0049 | 1 | 146 | 0.0069 | 24 | c.61+ others(41): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CADM2_chr3_84953989_86079429 | 85107631 | T | TTTTCTTT others(17): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0002 | a0001c0002t0051 | a0001c0002t0051g0005 | 1 | 146 | 0.0069 | 24 | c.61+ others(43): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CADM2_chr3_84953989_86079429 | 85199370 | T | TGTATGAG others(17): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01516.hp1 HG01517.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0108a0001c0001t0002g0044a0001c0001t0002g0045others(4): Show | 7 | 146 | 0.0480 | 24 | c.61+ others(43): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CADM2_chr3_84953989_86079429 | 85212812 | C | CTCTTTCT others(17): Show |
intron_variant | MODIFIER | HG01981.hp1 HG04204.hp2 NA18949.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0099a0001c0001t0003g0068a0001c0001t0003g0121 | 3 | 146 | 0.0206 | 24 | c.61+ others(43): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CADM2_chr3_84953989_86079429 | 85354618 | C | CAGAGAGA others(17): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00738.hp1 HG01515.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0080a0001c0001t0002g0119a0001c0001t0003g0062others(1): Show | 4 | 146 | 0.0274 | 24 | c.62- others(43): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CADM2_chr3_84953989_86079429 | 85359666 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG02886.hp1 HG03540.hp1 |
a0001 | a0001c0002 | a0001c0002t0007a0001c0002t0016 | a0001c0002t0007g0095a0001c0002t0016g0098 | 2 | 146 | 0.0137 | 24 | c.62- others(43): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CADM2_chr3_84953989_86079429 | 85359666 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0144 | 1 | 146 | 0.0069 | 24 | c.62- others(43): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CADM2_chr3_84953989_86079429 | 85449052 | A | AAATAATA others(17): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0104 | 1 | 146 | 0.0069 | 24 | c.62- others(43): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CADM2_chr3_84953989_86079429 | 85541773 | T | TTATATAT others(17): Show |
intron_variant | MODIFIER | HG02257.hp1 HG03195.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0034a0001c0003t0006 | a0001c0002t0034g0046a0001c0003t0006g0028 | 2 | 146 | 0.0137 | 24 | c.62- others(43): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CADM2_chr3_84953989_86079429 | 85543420 | A | ATGTGTGT others(17): Show |
intron_variant | MODIFIER | HG01515.hp2 HG01516.hp1 HG01517.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0002g0044a0001c0001t0002g0045a0001c0001t0002g0119others(6): Show | 9 | 146 | 0.0616 | 24 | c.62- others(43): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CADM2_chr3_84953989_86079429 | 85543423 | T | TGTGTGGG others(17): Show |
intron_variant | MODIFIER | HG00423.hp2 HG02486.hp2 HG02818.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0015 | a0001c0001t0001g0065a0001c0001t0002g0138a0001c0001t0015g0077others(1): Show | 4 | 146 | 0.0274 | 24 | c.62- others(43): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CADM2_chr3_84953989_86079429 | 85568444 | T | TTTCTTTC others(17): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01361.hp2 HG03492.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0047a0001c0001t0003g0050a0001c0001t0004g0053others(5): Show | 8 | 146 | 0.0548 | 24 | c.62- others(43): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CADM2_chr3_84953989_86079429 | 85568473 | C | CTCTTTCT others(17): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01981.hp1 HG03239.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0021 | a0001c0001t0002g0049a0001c0001t0003g0121a0001c0001t0021g0126 | 3 | 146 | 0.0206 | 24 | c.62- others(43): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CADM2_chr3_84953989_86079429 | 85577984 | T | TTTCCTTC others(17): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01361.hp2 HG02572.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(3): Show | a0001c0001t0001g0047a0001c0001t0004g0075a0001c0001t0008g0101others(3): Show | 6 | 146 | 0.0411 | 24 | c.62- others(43): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CADM2_chr3_84953989_86079429 | 85898955 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0076 | 1 | 146 | 0.0069 | 24 | c.529 others(43): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CADPS2_chr7_122313411_122891460 | 122315272 | G | GCTCTCTC others(17): Show |
downstream_gene_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0108 | 1 | 126 | 0.0079 | 24 | c.*48 others(35): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 3138 | chr7 | TogoVar | ||||||
| CADPS2_chr7_122313411_122891460 | 122579450 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02896.hp1 HG03017.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0006 | a0001c0001t0001a0001c0002t0002a0001c0002t0004others(1): Show | a0001c0001t0001g0073a0001c0002t0002g0060a0001c0002t0002g0097others(3): Show | 6 | 126 | 0.0476 | 24 | c.133 others(43): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 7/29 | chr7 | TogoVar | ||||||
| CADPS2_chr7_122313411_122891460 | 122708520 | G | GATATATA others(17): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0087 | 1 | 126 | 0.0079 | 24 | c.453 others(43): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 2/29 | chr7 | TogoVar | ||||||
| CADPS2_chr7_122313411_122891460 | 122827416 | G | GGAGGTTG others(17): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00609.hp1 others(111): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(111): Show | 114 | 126 | 0.9048 | 24 | c.339 others(43): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 1/29 | chr7 | TogoVar | ||||||
| CADPS2_chr7_122313411_122891460 | 122858115 | G | GGGTCCAT others(17): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0011 | 1 | 126 | 0.0079 | 24 | c.339 others(43): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 1/29 | chr7 | TogoVar | ||||||
| CADPS_chr3_62393348_62880416 | 62525679 | A | ATGTGTGT others(17): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0152 | 1 | 160 | 0.0063 | 24 | c.229 others(43): Show |
CADPS | ENSG00000163618.18 | transcript | ENST00000383710.9 | protein_coding | 13/29 | chr3 | TogoVar | ||||||
| CADPS_chr3_62393348_62880416 | 62599745 | A | ATTATATA others(17): Show |
intron_variant | MODIFIER | HG01975.hp1 HG01975.hp2 HG03017.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078a0001c0001t0001g0081a0001c0001t0001g0103 | 3 | 160 | 0.0188 | 24 | c.132 others(43): Show |
CADPS | ENSG00000163618.18 | transcript | ENST00000383710.9 | protein_coding | 6/29 | chr3 | TogoVar | ||||||
| CADPS_chr3_62393348_62880416 | 62648691 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 160 | 0.0063 | 24 | c.120 others(43): Show |
CADPS | ENSG00000163618.18 | transcript | ENST00000383710.9 | protein_coding | 5/29 | chr3 | TogoVar | ||||||
| CADPS_chr3_62393348_62880416 | 62731805 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02922.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0018a0001c0002t0001g0056 | 2 | 160 | 0.0125 | 24 | c.888 others(43): Show |
CADPS | ENSG00000163618.18 | transcript | ENST00000383710.9 | protein_coding | 3/29 | chr3 | TogoVar | ||||||
| CADPS_chr3_62393348_62880416 | 62843492 | G | GGTGTGTG others(17): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 160 | 0.0063 | 24 | c.441 others(43): Show |
CADPS | ENSG00000163618.18 | transcript | ENST00000383710.9 | protein_coding | 1/29 | chr3 | TogoVar | ||||||
| CAGE1_chr6_7321659_7394742 | 7358027 | G | GATATATA others(17): Show |
intron_variant | MODIFIER | HG01243.hp1 NA19010.hp1 NA19070.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0197a0001c0001t0001g0220a0001c0001t0002g0319 | 3 | 360 | 0.0083 | 24 | c.219 others(43): Show |
CAGE1 | ENSG00000164304.16 | transcript | ENST00000502583.6 | protein_coding | 9/13 | chr6 | TogoVar | ||||||
| CALB2_chr16_71353723_71395433 | 71356943 | A | ATTTTTTT others(17): Show |
upstream_gene_variant | MODIFIER | HG03669.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0265 | 1 | 426 | 0.0024 | 24 | c.-18 others(35): Show |
CALB2 | ENSG00000172137.19 | transcript | ENST00000302628.9 | protein_coding | 1779 | chr16 | TogoVar | ||||||
| CALB2_chr16_71353723_71395433 | 71366022 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 426 | 0.0024 | 24 | c.95- others(39): Show |
CALB2 | ENSG00000172137.19 | transcript | ENST00000302628.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CALB2_chr16_71353723_71395433 | 71366024 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG02818.hp1 HG02970.hp2 HG03540.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0001 | a0001c0001t0003g0030a0001c0001t0003g0271a0002c0002t0001g0258 | 4 | 426 | 0.0094 | 24 | c.95- others(39): Show |
CALB2 | ENSG00000172137.19 | transcript | ENST00000302628.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CALB2_chr16_71353723_71395433 | 71382155 | A | AGAAGGAA others(17): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0054a0001c0001t0003g0264 | 2 | 426 | 0.0047 | 24 | c.343 others(39): Show |
CALB2 | ENSG00000172137.19 | transcript | ENST00000302628.9 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CALCOCO2_chr17_48826035_48870245 | 48854396 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG00738.hp2 NA18999.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001a0001c0001t0002g0276 | 2 | 328 | 0.0061 | 24 | c.912 others(41): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| CALCOCO2_chr17_48826035_48870245 | 48854396 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0026 | 1 | 328 | 0.0031 | 24 | c.912 others(41): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |