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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ANGPT4_chr20_864900_921334 | 867469 | T | TGTGTGTG others(1): Show |
downstream_gene_variant | MODIFIER | HG02809.hp1 HG03041.hp1 NA18965.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0275a0001c0001t0002g0102a0001c0001t0002g0104 | 3 | 432 | 0.0069 | 8 | c.*54 others(19): Show |
ANGPT4 | ENSG00000101280.8 | transcript | ENST00000381922.5 | protein_coding | 2430 | chr20 | TogoVar | ||||||
ANGPTL1_chr1_178844535_178876077 | 178856394 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01069.hp1 HG01071.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0014 | a0001c0001t0001g0293a0001c0001t0007g0036a0001c0001t0007g0254others(1): Show | 6 | 424 | 0.0142 | 8 | c.824 others(25): Show |
ANGPTL1 | ENSG00000116194.13 | transcript | ENST00000234816.7 | protein_coding | 3/5 | chr1 | TogoVar | ||||||
ANGPTL1_chr1_178844535_178876077 | 178862593 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG01361.hp2 HG01433.hp1 HG02109.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0091a0001c0001t0001g0096a0001c0001t0001g0138others(21): Show | 24 | 424 | 0.0566 | 8 | c.823 others(25): Show |
ANGPTL1 | ENSG00000116194.13 | transcript | ENST00000234816.7 | protein_coding | 3/5 | chr1 | TogoVar | ||||||
ANGPTL4_chr19_8359155_8379370 | 8361661 | A | AAAATAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00609.hp2 HG01109.hp2 others(23): Show |
a0001a0002a0005 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0004t0003a0002c0002t0001others(1): Show | a0001c0001t0001g0088a0001c0001t0001g0112a0001c0004t0003g0010others(11): Show | 26 | 408 | 0.0637 | 8 | c.-26 others(19): Show |
ANGPTL4 | ENSG00000167772.12 | transcript | ENST00000301455.7 | protein_coding | 2493 | chr19 | TogoVar | ||||||
ANGPTL4_chr19_8359155_8379370 | 8368024 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(83): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0011others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0003others(6): Show | a0001c0001t0001g0112a0001c0001t0002g0066a0001c0004t0003g0010others(30): Show | 86 | 408 | 0.2108 | 8 | c.548 others(25): Show |
ANGPTL4 | ENSG00000167772.12 | transcript | ENST00000301455.7 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ANGPTL5_chr11_101885674_101921522 | 101889124 | T | TAAGAAAG others(1): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00544.hp2 others(86): Show |
a0001a0004a0005others(1): Show | a0001c0001a0004c0006a0005c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0011others(74): Show | 89 | 422 | 0.2109 | 8 | c.*21 others(19): Show |
ANGPTL5 | ENSG00000187151.7 | transcript | ENST00000334289.7 | protein_coding | 1549 | chr11 | TogoVar | ||||||
ANGPTL6_chr19_10087338_10107678 | 10087819 | T | TTGAATGA others(1): Show |
downstream_gene_variant | MODIFIER | HG00733.hp1 HG01496.hp2 HG02004.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0007others(8): Show | 16 | 462 | 0.0346 | 8 | c.*47 others(19): Show |
ANGPTL6 | ENSG00000130812.11 | transcript | ENST00000253109.5 | protein_coding | 4518 | chr19 | TogoVar | ||||||
ANK1_chr8_41648225_41802622 | 41658897 | T | TATAAATA others(1): Show |
intron_variant | MODIFIER | HG02083.hp1 HG02683.hp2 HG02698.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0002a0001c0002t0001a0001c0004t0002 | a0001c0001t0002g0009a0001c0002t0001g0048a0001c0004t0002g0154others(1): Show | 4 | 278 | 0.0144 | 8 | c.*36 others(25): Show |
ANK1 | ENSG00000029534.22 | transcript | ENST00000289734.13 | protein_coding | 42/42 | chr8 | TogoVar | ||||||
ANK1_chr8_41648225_41802622 | 41663098 | G | GTCTCTCT others(1): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02976.hp2 HG03688.hp2 |
a0001a0003 | a0001c0003a0001c0037a0003c0024 | a0001c0003t0001a0001c0037t0003a0003c0024t0001 | a0001c0003t0001g0058a0001c0037t0003g0233a0003c0024t0001g0273 | 3 | 278 | 0.0108 | 8 | c.547 others(25): Show |
ANK1 | ENSG00000029534.22 | transcript | ENST00000289734.13 | protein_coding | 40/42 | chr8 | TogoVar | ||||||
ANK1_chr8_41648225_41802622 | 41663110 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03139.hp2 HG03486.hp2 |
a0001a0009 | a0001c0002a0001c0005a0009c0047 | a0001c0002t0009a0001c0005t0010a0009c0047t0002 | a0001c0002t0009g0098a0001c0005t0010g0019a0009c0047t0002g0016 | 3 | 278 | 0.0108 | 8 | c.547 others(25): Show |
ANK1 | ENSG00000029534.22 | transcript | ENST00000289734.13 | protein_coding | 40/42 | chr8 | TogoVar | ||||||
ANK1_chr8_41648225_41802622 | 41663112 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02572.hp1 HG02647.hp1 others(5): Show |
a0001 | a0001c0006a0001c0017a0001c0056 | a0001c0006t0003a0001c0006t0005a0001c0017t0005others(1): Show | a0001c0006t0003g0005a0001c0006t0003g0013a0001c0006t0003g0014others(5): Show | 8 | 278 | 0.0288 | 8 | c.547 others(25): Show |
ANK1 | ENSG00000029534.22 | transcript | ENST00000289734.13 | protein_coding | 40/42 | chr8 | TogoVar | ||||||
ANK1_chr8_41648225_41802622 | 41663114 | C | CTCTCTGT others(1): Show |
intron_variant | MODIFIER | HG03017.hp1 NA18973.hp2 NA19005.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001a0001c0003t0014 | a0001c0001t0001g0245a0001c0003t0001g0261a0001c0003t0014g0065 | 3 | 278 | 0.0108 | 8 | c.547 others(25): Show |
ANK1 | ENSG00000029534.22 | transcript | ENST00000289734.13 | protein_coding | 40/42 | chr8 | TogoVar | ||||||
ANK1_chr8_41648225_41802622 | 41703400 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02572.hp1 HG03130.hp2 HG03579.hp1 others(1): Show |
a0001 | a0001c0006a0001c0017 | a0001c0006t0018a0001c0017t0005 | a0001c0006t0018g0117a0001c0017t0005g0116a0001c0017t0005g0119others(1): Show | 4 | 278 | 0.0144 | 8 | c.229 others(25): Show |
ANK1 | ENSG00000029534.22 | transcript | ENST00000289734.13 | protein_coding | 20/42 | chr8 | TogoVar | ||||||
ANK1_chr8_41648225_41802622 | 41703422 | G | GTGTGTAT others(1): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02723.hp2 HG03490.hp1 others(3): Show |
a0001 | a0001c0002a0001c0016a0001c0046 | a0001c0002t0001a0001c0002t0003a0001c0016t0002others(1): Show | a0001c0002t0001g0168a0001c0002t0003g0079a0001c0002t0003g0080others(3): Show | 6 | 278 | 0.0216 | 8 | c.229 others(25): Show |
ANK1 | ENSG00000029534.22 | transcript | ENST00000289734.13 | protein_coding | 20/42 | chr8 | TogoVar | ||||||
ANK1_chr8_41648225_41802622 | 41709117 | T | TAAACAAA others(1): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01243.hp2 HG01891.hp1 others(15): Show |
a0001a0002a0004others(1): Show | a0001c0002a0001c0012a0001c0056others(4): Show | a0001c0002t0009a0001c0012t0005a0001c0012t0006others(8): Show | a0001c0002t0009g0098a0001c0012t0005g0103a0001c0012t0006g0085others(15): Show | 18 | 278 | 0.0648 | 8 | c.180 others(25): Show |
ANK1 | ENSG00000029534.22 | transcript | ENST00000289734.13 | protein_coding | 16/42 | chr8 | TogoVar | ||||||
ANK1_chr8_41648225_41802622 | 41738202 | T | TGTATCTG others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(132): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(27): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(42): Show | a0001c0001t0001g0148a0001c0001t0001g0155a0001c0001t0001g0160others(131): Show | 135 | 278 | 0.4856 | 8 | c.130 others(25): Show |
ANK1 | ENSG00000029534.22 | transcript | ENST00000289734.13 | protein_coding | 2/42 | chr8 | TogoVar | ||||||
ANK1_chr8_41648225_41802622 | 41759506 | A | AAAACAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG00738.hp2 others(24): Show |
a0001a0002 | a0001c0003a0001c0004a0001c0005others(6): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0014others(10): Show | a0001c0003t0001g0049a0001c0003t0001g0057a0001c0003t0001g0058others(24): Show | 27 | 278 | 0.0971 | 8 | c.28- others(23): Show |
ANK1 | ENSG00000029534.22 | transcript | ENST00000289734.13 | protein_coding | 1/42 | chr8 | TogoVar | ||||||
ANK2_chr4_113044653_113388736 | 113048248 | G | GTATATAT others(1): Show |
upstream_gene_variant | MODIFIER | NA18969.hp1 NA19068.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036a0001c0001t0001g0043 | 2 | 178 | 0.0112 | 8 | c.-14 others(19): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 1404 | chr4 | TogoVar | ||||||
ANK2_chr4_113044653_113388736 | 113097862 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02559.hp2 |
a0001a0004 | a0001c0004a0004c0005 | a0001c0004t0001a0004c0005t0001 | a0001c0004t0001g0083a0004c0005t0001g0068 | 2 | 178 | 0.0112 | 8 | c.84+ others(25): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 1/45 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ANK2_chr4_113044653_113388736 | 113097877 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01346.hp2 HG02486.hp2 others(1): Show |
a0001a0002a0004 | a0001c0004a0002c0002a0004c0005 | a0001c0004t0001a0002c0002t0001a0004c0005t0001 | a0001c0004t0001g0083a0002c0002t0001g0167a0002c0002t0001g0168others(1): Show | 4 | 178 | 0.0225 | 8 | c.84+ others(25): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 1/45 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ANK2_chr4_113044653_113388736 | 113135521 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00609.hp2 HG02970.hp1 |
a0002 | a0002c0002a0002c0003 | a0002c0002t0001a0002c0003t0001 | a0002c0002t0001g0087a0002c0003t0001g0050 | 2 | 178 | 0.0112 | 8 | c.85- others(25): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 1/45 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ANK2_chr4_113044653_113388736 | 113159191 | C | CCACACAC others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00738.hp1 HG01106.hp2 others(8): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0007a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0007t0001others(4): Show | a0001c0001t0001g0042a0001c0001t0001g0093a0001c0001t0001g0173others(8): Show | 11 | 178 | 0.0618 | 8 | c.85- others(25): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 1/45 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ANK2_chr4_113044653_113388736 | 113161695 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03453.hp2 |
a0002 | a0002c0002a0002c0035 | a0002c0002t0001a0002c0035t0001 | a0002c0002t0001g0007a0002c0035t0001g0169 | 2 | 178 | 0.0112 | 8 | c.85- others(25): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 1/45 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ANK2_chr4_113044653_113388736 | 113271479 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00544.hp2 HG00639.hp2 others(45): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0007others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0004t0001others(9): Show | a0001c0001t0001g0010a0001c0001t0001g0015a0001c0001t0001g0023others(45): Show | 48 | 178 | 0.2697 | 8 | c.148 others(27): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 14/45 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ANK2_chr4_113044653_113388736 | 113333296 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00738.hp2 |
a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0129a0003c0006t0002g0154 | 2 | 178 | 0.0112 | 8 | c.337 others(23): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 29/45 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ANK3_chr10_60021298_60394875 | 60036422 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01123.hp1 HG02071.hp2 HG02257.hp1 others(10): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0016a0001c0001t0039others(10): Show | a0001c0001t0001g0103a0001c0001t0016g0079a0001c0001t0039g0172others(10): Show | 13 | 192 | 0.0677 | 8 | c.*19 others(25): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 43/43 | chr10 | TogoVar | ||||||
ANK3_chr10_60021298_60394875 | 60079174 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00544.hp2 HG00609.hp1 others(27): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0001c0007others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0062a0001c0001t0001g0103a0001c0001t0001g0167others(27): Show | 30 | 192 | 0.1563 | 8 | c.443 others(27): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 36/43 | chr10 | TogoVar | ||||||
ANK3_chr10_60021298_60394875 | 60100234 | G | GTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01106.hp2 HG01167.hp2 others(11): Show |
a0001a0004a0006others(2): Show | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0026others(9): Show | a0001c0001t0001g0106a0001c0001t0001g0133a0001c0001t0003g0092others(11): Show | 14 | 192 | 0.0729 | 8 | c.332 others(27): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 28/43 | chr10 | TogoVar | ||||||
ANK3_chr10_60021298_60394875 | 60157886 | A | AAGAGAGA others(1): Show |
intron_variant | MODIFIER | HG02083.hp2 HG02895.hp1 HG03139.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0016others(1): Show | a0001c0001t0001a0001c0001t0044a0001c0002t0005others(2): Show | a0001c0001t0001g0067a0001c0001t0001g0119a0001c0001t0044g0189others(3): Show | 6 | 192 | 0.0313 | 8 | c.261 others(27): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 23/43 | chr10 | TogoVar | ||||||
ANK3_chr10_60021298_60394875 | 60177593 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00609.hp2 HG01123.hp1 others(9): Show |
a0001a0002a0004 | a0001c0001a0001c0015a0001c0036others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0060a0001c0001t0002g0043a0001c0001t0003g0143others(9): Show | 12 | 192 | 0.0625 | 8 | c.218 others(27): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 18/43 | chr10 | TogoVar | ||||||
ANK3_chr10_60021298_60394875 | 60180594 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01070.hp2 HG01167.hp1 others(17): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0015others(9): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(14): Show | a0001c0001t0001g0119a0001c0001t0001g0133a0001c0001t0001g0167others(17): Show | 20 | 192 | 0.1042 | 8 | c.218 others(25): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 18/43 | chr10 | TogoVar | ||||||
ANK3_chr10_60021298_60394875 | 60240167 | T | TATACACG others(1): Show |
intron_variant | MODIFIER | HG06807.hp1 NA19043.hp1 |
a0001a0003 | a0001c0071a0003c0080 | a0001c0071t0001a0003c0080t0038 | a0001c0071t0001g0096a0003c0080t0038g0020 | 2 | 192 | 0.0104 | 8 | c.799 others(25): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 7/43 | chr10 | TogoVar | ||||||
ANK3_chr10_60021298_60394875 | 60240167 | T | TATATACG others(1): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02451.hp2 HG02572.hp2 others(6): Show |
a0001a0003a0008others(1): Show | a0001c0001a0001c0039a0001c0047others(5): Show | a0001c0001t0008a0001c0001t0042a0001c0039t0012others(6): Show | a0001c0001t0008g0047a0001c0001t0042g0145a0001c0039t0012g0034others(6): Show | 9 | 192 | 0.0469 | 8 | c.799 others(25): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 7/43 | chr10 | TogoVar | ||||||
ANK3_chr10_60021298_60394875 | 60240306 | A | ATATATTT others(1): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01884.hp2 HG01928.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0011a0001c0085others(2): Show | a0001c0001t0004a0001c0011t0002a0001c0085t0001others(2): Show | a0001c0001t0004g0085a0001c0011t0002g0088a0001c0085t0001g0091others(2): Show | 5 | 192 | 0.0260 | 8 | c.799 others(25): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 7/43 | chr10 | TogoVar | ||||||
ANK3_chr10_60021298_60394875 | 60288889 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG01123.hp1 HG02615.hp2 NA18959.hp2 |
a0001a0002 | a0001c0001a0001c0075a0002c0022 | a0001c0001t0001a0001c0075t0002a0002c0022t0013 | a0001c0001t0001g0065a0001c0075t0002g0071a0002c0022t0013g0141 | 3 | 192 | 0.0156 | 8 | c.115 others(25): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 1/43 | chr10 | TogoVar | ||||||
ANK3_chr10_60021298_60394875 | 60336564 | G | GATCTATC others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01081.hp2 HG02809.hp1 others(4): Show |
a0001a0007a0013 | a0001c0001a0001c0016a0001c0038others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0016t0006others(4): Show | a0001c0001t0001g0082a0001c0001t0002g0135a0001c0016t0006g0011others(4): Show | 7 | 192 | 0.0365 | 8 | c.114 others(27): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 1/43 | chr10 | TogoVar | ||||||
ANK3_chr10_60021298_60394875 | 60336582 | T | TCTATCTA others(1): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02809.hp2 HG02818.hp2 others(4): Show |
a0004a0007a0010others(1): Show | a0004c0044a0004c0087a0004c0089others(3): Show | a0004c0044t0001a0004c0087t0008a0004c0089t0031others(3): Show | a0004c0044t0001g0083a0004c0087t0008g0142a0004c0089t0031g0008others(4): Show | 7 | 192 | 0.0365 | 8 | c.114 others(27): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 1/43 | chr10 | TogoVar | ||||||
ANK3_chr10_60021298_60394875 | 60390729 | A | AACACACA others(1): Show |
upstream_gene_variant | MODIFIER | HG02622.hp1 HG02922.hp2 |
a0001a0003 | a0001c0056a0003c0006 | a0001c0056t0005a0003c0006t0016 | a0001c0056t0005g0039a0003c0006t0016g0036 | 2 | 192 | 0.0104 | 8 | c.-11 others(19): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 855 | chr10 | TogoVar | ||||||
ANKAR_chr2_189669670_189751647 | 189704544 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG01261.hp1 NA18949.hp2 NA18962.hp1 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0001 | a0001c0001t0001g0144a0001c0001t0001g0145a0001c0008t0001g0118 | 3 | 296 | 0.0101 | 8 | c.170 others(25): Show |
ANKAR | ENSG00000151687.15 | transcript | ENST00000684021.1 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ANKAR_chr2_189669670_189751647 | 189709099 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(104): Show |
a0001a0009a0010others(2): Show | a0001c0001a0001c0008a0001c0015others(5): Show | a0001c0001t0001a0001c0008t0001a0001c0015t0001others(5): Show | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(104): Show | 107 | 296 | 0.3615 | 8 | c.212 others(27): Show |
ANKAR | ENSG00000151687.15 | transcript | ENST00000684021.1 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ANKAR_chr2_189669670_189751647 | 189725279 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01884.hp2 HG02055.hp2 others(7): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0005others(1): Show | a0001c0001t0001a0002c0002t0001a0005c0005t0001others(1): Show | a0001c0001t0001g0004a0002c0002t0001g0059a0002c0002t0001g0063others(7): Show | 10 | 296 | 0.0338 | 8 | c.263 others(27): Show |
ANKAR | ENSG00000151687.15 | transcript | ENST00000684021.1 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ANKAR_chr2_189669670_189751647 | 189736499 | G | GTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG01081.hp1 others(5): Show |
a0001a0012 | a0001c0001a0012c0013 | a0001c0001t0001a0012c0013t0001 | a0001c0001t0001g0031a0001c0001t0001g0125a0001c0001t0001g0138others(5): Show | 8 | 296 | 0.0270 | 8 | c.342 others(27): Show |
ANKAR | ENSG00000151687.15 | transcript | ENST00000684021.1 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ANKAR_chr2_189669670_189751647 | 189742865 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02615.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0056 | 3 | 296 | 0.0101 | 8 | c.381 others(25): Show |
ANKAR | ENSG00000151687.15 | transcript | ENST00000684021.1 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ANKDD1A_chr15_64906902_64963691 | 64940394 | T | TGATAGAT others(1): Show |
intron_variant | MODIFIER | HG01070.hp2 HG02027.hp1 HG02622.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0024a0001c0001t0001g0087a0001c0001t0001g0097others(2): Show | 5 | 338 | 0.0148 | 8 | c.868 others(25): Show |
ANKDD1A | ENSG00000166839.18 | transcript | ENST00000319580.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ANKDD1A_chr15_64906902_64963691 | 64945607 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG02132.hp1 HG02300.hp1 HG04228.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0003 | a0001c0001t0001g0295a0001c0004t0003g0182a0001c0004t0003g0218 | 3 | 338 | 0.0089 | 8 | c.116 others(25): Show |
ANKDD1A | ENSG00000166839.18 | transcript | ENST00000319580.13 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ANKDD1A_chr15_64906902_64963691 | 64952978 | G | GTCTCTTC others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(294): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0004others(15): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(25): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(287): Show | 297 | 338 | 0.8787 | 8 | c.148 others(27): Show |
ANKDD1A | ENSG00000166839.18 | transcript | ENST00000319580.13 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ANKDD1A_chr15_64906902_64963691 | 64953663 | T | TCCTTTTC others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(272): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0013others(12): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(19): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(265): Show | 275 | 338 | 0.8136 | 8 | c.148 others(27): Show |
ANKDD1A | ENSG00000166839.18 | transcript | ENST00000319580.13 | protein_coding | 14/14 | chr15 | TogoVar | ||||||
ANKDD1B_chr5_75606453_75676846 | 75637240 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01952.hp1 HG01952.hp2 others(18): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0002c0002t0003a0002c0002t0004others(5): Show | a0001c0001t0001g0200a0001c0001t0001g0201a0001c0001t0001g0203others(17): Show | 21 | 372 | 0.0565 | 8 | c.798 others(25): Show |
ANKDD1B | ENSG00000189045.15 | transcript | ENST00000601380.4 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ANKDD1B_chr5_75606453_75676846 | 75648274 | A | AAAAAAAT others(1): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02818.hp1 HG02886.hp2 others(8): Show |
a0002a0004a0005others(2): Show | a0002c0002a0004c0005a0005c0004others(2): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0016others(5): Show | a0002c0002t0002g0324a0002c0002t0003g0076a0002c0002t0003g0172others(8): Show | 11 | 372 | 0.0296 | 8 | c.799 others(25): Show |
ANKDD1B | ENSG00000189045.15 | transcript | ENST00000601380.4 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ANKEF1_chr20_10029987_10063303 | 10053506 | A | ATGTAAAG others(1): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0036 | a0001c0001t0010g0091a0001c0001t0036g0031 | 3 | 392 | 0.0077 | 8 | c.203 others(25): Show |
ANKEF1 | ENSG00000132623.16 | transcript | ENST00000378392.6 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |