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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AMOT_chrX_112769877_112845831 | 112806353 | TAAAAC | T | intron_variant | MODIFIER | HG00408.hp1 HG00642.hp1 HG00738.hp1 others(47): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0112a0001c0001t0002g0240a0001c0001t0004g0026others(45): Show | 50 | 270 | 0.1852 | -5 | c.163 others(24): Show |
AMOT | ENSG00000126016.17 | transcript | ENST00000371959.9 | protein_coding | 7/13 | chrX | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38392377 | CTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(45): Show |
a0001 | a0001c0001a0001c0019 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0056a0001c0001t0001g0067a0001c0001t0001g0091others(45): Show | 48 | 288 | 0.1667 | -5 | c.160 others(22): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 18/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38398191 | AAAAAC | A | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00597.hp2 others(20): Show |
a0002a0006 | a0002c0004a0002c0008a0006c0014 | a0002c0004t0005a0002c0008t0002a0002c0008t0003others(1): Show | a0002c0004t0005g0029a0002c0004t0005g0051a0002c0004t0005g0070others(20): Show | 23 | 288 | 0.0799 | -5 | c.139 others(24): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 17/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38469153 | CAAAAA | C | intron_variant | MODIFIER | HG01433.hp2 HG01515.hp2 HG01517.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(1): Show | a0001c0001t0001g0040a0001c0001t0001g0202a0001c0001t0001g0203others(7): Show | 10 | 288 | 0.0347 | -5 | c.591 others(22): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 7/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38570980 | TATTCA | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00597.hp2 others(31): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0124a0001c0001t0001g0173a0001c0001t0001g0174others(31): Show | 34 | 288 | 0.1181 | -5 | c.70- others(22): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 1/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38610333 | AAAAAG | A | intron_variant | MODIFIER | HG01192.hp1 HG01255.hp1 HG01515.hp2 others(44): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(6): Show | a0001c0001t0001g0172a0001c0001t0001g0174a0001c0001t0001g0176others(44): Show | 47 | 288 | 0.1632 | -5 | c.69+ others(22): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 1/20 | chr7 | TogoVar | ||||||
AMTN_chr4_70513569_70537743 | 70521640 | CTTTTT | C | intron_variant | MODIFIER | HG02074.hp2 HG02109.hp2 HG02145.hp1 others(12): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0001c0001t0003a0005c0006t0001 | a0001c0001t0001g0014a0001c0001t0001g0029a0001c0001t0001g0038others(4): Show | 15 | 458 | 0.0328 | -5 | c.55- others(20): Show |
AMTN | ENSG00000187689.10 | transcript | ENST00000339336.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
AMZ1_chr7_2683202_2724683 | 2704588 | CTTTTT | C | intron_variant | MODIFIER | HG01192.hp2 HG02257.hp2 HG02559.hp1 others(11): Show |
a0001a0002a0006others(2): Show | a0001c0009a0002c0010a0006c0049others(2): Show | a0001c0009t0047a0001c0009t0133a0001c0009t0158others(9): Show | a0001c0009t0047g0152a0001c0009t0047g0153a0001c0009t0133g0143others(11): Show | 14 | 438 | 0.0320 | -5 | c.472 others(22): Show |
AMZ1 | ENSG00000174945.14 | transcript | ENST00000683327.1 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AMZ1_chr7_2683202_2724683 | 2707818 | CTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00544.hp1 others(145): Show |
a0001a0002a0004others(8): Show | a0001c0002a0001c0004a0001c0008others(19): Show | a0001c0002t0003a0001c0002t0004a0001c0002t0005others(72): Show | a0001c0002t0003g0009a0001c0002t0003g0090a0001c0002t0004g0001others(137): Show | 148 | 438 | 0.3379 | -5 | c.473 others(20): Show |
AMZ1 | ENSG00000174945.14 | transcript | ENST00000683327.1 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AMZ1_chr7_2683202_2724683 | 2723004 | TAAAAC | T | downstream_gene_variant | MODIFIER | HG00280.hp2 HG01261.hp2 HG02148.hp2 others(1): Show |
a0001a0002 | a0001c0004a0002c0003 | a0001c0004t0002a0002c0003t0018 | a0001c0004t0002g0218a0001c0004t0002g0312a0001c0004t0002g0407others(1): Show | 4 | 438 | 0.0091 | -5 | c.*10 others(18): Show |
AMZ1 | ENSG00000174945.14 | transcript | ENST00000683327.1 | protein_coding | 3322 | chr7 | TogoVar | ||||||
AMZ2_chr17_68243043_68262155 | 68247336 | CAAAAA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(155): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(4): Show | a0001c0001t0001g0016a0001c0001t0001g0018a0001c0001t0001g0021others(19): Show | 158 | 438 | 0.3607 | -5 | c.-13 others(16): Show |
AMZ2 | ENSG00000196704.14 | transcript | ENST00000359904.8 | protein_coding | 706 | chr17 | TogoVar | ||||||
ANAPC10_chr4_144989576_145103196 | 145011336 | AAAAAT | A | intron_variant | MODIFIER | HG03017.hp2 NA18939.hp2 NA18943.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172a0001c0001t0001g0209a0001c0001t0001g0210others(2): Show | 5 | 336 | 0.0149 | -5 | c.328 others(24): Show |
ANAPC10 | ENSG00000164162.14 | transcript | ENST00000507656.6 | protein_coding | 4/4 | chr4 | TogoVar | ||||||
ANAPC10_chr4_144989576_145103196 | 145026987 | ATTTTT | A | intron_variant | MODIFIER | HG01256.hp1 HG01346.hp1 HG01943.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007 | a0001c0001t0001g0041a0001c0001t0001g0269a0001c0001t0001g0273others(5): Show | 8 | 336 | 0.0238 | -5 | c.328 others(24): Show |
ANAPC10 | ENSG00000164162.14 | transcript | ENST00000507656.6 | protein_coding | 4/4 | chr4 | TogoVar | ||||||
ANAPC16_chr10_72211012_72240860 | 72239415 | CAAAAG | C | downstream_gene_variant | MODIFIER | HG01243.hp1 HG02559.hp2 HG03041.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0197a0001c0001t0002g0253a0001c0001t0002g0254others(1): Show | 4 | 352 | 0.0114 | -5 | c.*63 others(16): Show |
ANAPC16 | ENSG00000166295.9 | transcript | ENST00000299381.5 | protein_coding | 3556 | chr10 | TogoVar | ||||||
ANAPC1_chr2_111762640_111889193 | 111823000 | CTTTTT | C | intron_variant | MODIFIER | HG02258.hp1 HG02280.hp1 HG03130.hp1 others(5): Show |
a0001 | a0001c0002a0001c0008 | a0001c0002t0002a0001c0008t0008 | a0001c0002t0002g0199a0001c0002t0002g0215a0001c0008t0008g0004others(4): Show | 8 | 370 | 0.0216 | -5 | c.281 others(22): Show |
ANAPC1 | ENSG00000153107.13 | transcript | ENST00000341068.8 | protein_coding | 24/47 | chr2 | TogoVar | ||||||
ANAPC1_chr2_111762640_111889193 | 111860918 | TTCTAA | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00733.hp2 others(41): Show |
a0001a0008 | a0001c0004a0001c0007a0001c0011others(2): Show | a0001c0004t0003a0001c0004t0017a0001c0007t0002others(3): Show | a0001c0004t0003g0153a0001c0004t0003g0154a0001c0004t0003g0155others(41): Show | 44 | 370 | 0.1189 | -5 | c.126 others(24): Show |
ANAPC1 | ENSG00000153107.13 | transcript | ENST00000341068.8 | protein_coding | 10/47 | chr2 | TogoVar | ||||||
ANAPC1_chr2_111762640_111889193 | 111873819 | ATAAAT | A | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00609.hp2 others(46): Show |
a0001a0004 | a0001c0003a0001c0007a0004c0030 | a0001c0003t0004a0001c0003t0018a0001c0003t0019others(2): Show | a0001c0003t0004g0262a0001c0003t0004g0263a0001c0003t0004g0264others(46): Show | 49 | 370 | 0.1324 | -5 | c.376 others(20): Show |
ANAPC1 | ENSG00000153107.13 | transcript | ENST00000341068.8 | protein_coding | 3/47 | chr2 | TogoVar | ||||||
ANAPC7_chr12_110367900_110408708 | 110382462 | ATATAT | A | intron_variant | MODIFIER | HG02622.hp2 NA18522.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111a0001c0001t0001g0151a0001c0001t0001g0184 | 3 | 298 | 0.0101 | -5 | c.935 others(20): Show |
ANAPC7 | ENSG00000196510.14 | transcript | ENST00000455511.9 | protein_coding | 7/10 | chr12 | TogoVar | ||||||
ANAPC7_chr12_110367900_110408708 | 110392090 | CACAAA | C | intron_variant | MODIFIER | HG00323.hp1 HG00738.hp2 HG01069.hp1 others(25): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0241a0001c0001t0001g0242a0001c0001t0001g0243others(25): Show | 28 | 298 | 0.0940 | -5 | c.408 others(22): Show |
ANAPC7 | ENSG00000196510.14 | transcript | ENST00000455511.9 | protein_coding | 3/10 | chr12 | TogoVar | ||||||
ANGEL1_chr14_76781009_76817882 | 76786148 | CTTTCT | C | 3_prime_UTR_variant | MODIFIER | NA18940.hp2 NA18969.hp2 NA18972.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0024 | a0001c0001t0013g0029a0001c0001t0013g0123a0001c0001t0013g0124others(2): Show | 6 | 396 | 0.0152 | -5 | c.*30 others(16): Show |
ANGEL1 | ENSG00000013523.11 | transcript | ENST00000251089.8 | protein_coding | 10/10 | 3075 | chr14 | TogoVar | |||||
ANGEL2_chr1_212987182_213020867 | 212996641 | ATATAT | A | intron_variant | MODIFIER | NA18956.hp1 NA18960.hp2 NA19002.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0012a0003c0004t0005 | a0001c0001t0001g0081a0001c0001t0001g0099a0001c0001t0001g0110others(2): Show | 7 | 392 | 0.0179 | -5 | c.148 others(22): Show |
ANGEL2 | ENSG00000174606.14 | transcript | ENST00000366962.8 | protein_coding | 8/8 | chr1 | TogoVar | ||||||
ANGPT1_chr8_107244482_107502918 | 107263354 | CAAAAA | C | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG00621.hp1 others(35): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0017a0001c0001t0001g0167a0001c0001t0001g0197others(35): Show | 38 | 292 | 0.1301 | -5 | c.133 others(22): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 8/8 | chr8 | TogoVar | ||||||
ANGPT1_chr8_107244482_107502918 | 107266711 | CTAATA | C | intron_variant | MODIFIER | HG00642.hp2 HG01071.hp1 HG01081.hp2 others(16): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0003a0001c0001t0004a0001c0001t0012others(1): Show | a0001c0001t0003g0032a0001c0001t0003g0046a0001c0001t0003g0127others(16): Show | 19 | 292 | 0.0651 | -5 | c.120 others(24): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 7/8 | chr8 | TogoVar | ||||||
ANGPT1_chr8_107244482_107502918 | 107371573 | CTTTTT | C | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00597.hp1 others(97): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0009others(97): Show | 100 | 292 | 0.3425 | -5 | c.298 others(24): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
ANGPT1_chr8_107244482_107502918 | 107426098 | ACATGC | A | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG00597.hp2 others(56): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0038a0001c0001t0001g0048a0001c0001t0001g0049others(55): Show | 59 | 292 | 0.2021 | -5 | c.297 others(24): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
ANGPT2_chr8_6494632_6568245 | 6505246 | ATTCTT | A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00673.hp2 others(53): Show |
a0001a0002a0005 | a0001c0003a0001c0004a0001c0005others(9): Show | a0001c0003t0037a0001c0004t0004a0001c0004t0010others(23): Show | a0001c0003t0037g0136a0001c0004t0004g0044a0001c0004t0004g0049others(53): Show | 56 | 336 | 0.1667 | -5 | c.132 others(24): Show |
ANGPT2 | ENSG00000091879.14 | transcript | ENST00000629816.3 | protein_coding | 8/8 | chr8 | TogoVar | ||||||
ANGPT2_chr8_6494632_6568245 | 6505257 | ATGTTT | A | intron_variant | MODIFIER | HG02258.hp1 HG02258.hp2 HG02615.hp1 others(1): Show |
a0001 | a0001c0002a0001c0003a0001c0007others(1): Show | a0001c0002t0003a0001c0003t0040a0001c0007t0078others(1): Show | a0001c0002t0003g0187a0001c0003t0040g0230a0001c0007t0078g0334others(1): Show | 4 | 336 | 0.0119 | -5 | c.132 others(24): Show |
ANGPT2 | ENSG00000091879.14 | transcript | ENST00000629816.3 | protein_coding | 8/8 | chr8 | TogoVar | ||||||
ANGPT2_chr8_6494632_6568245 | 6505490 | ATTCTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(35): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0002a0001c0002t0009a0001c0005t0002others(13): Show | a0001c0001t0002g0197a0001c0002t0009g0003a0001c0005t0002g0054others(35): Show | 38 | 336 | 0.1131 | -5 | c.132 others(24): Show |
ANGPT2 | ENSG00000091879.14 | transcript | ENST00000629816.3 | protein_coding | 8/8 | chr8 | TogoVar | ||||||
ANGPT2_chr8_6494632_6568245 | 6563976 | CTTTTT | C | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00597.hp2 others(32): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0008a0001c0001t0009a0001c0002t0005others(18): Show | a0001c0001t0008g0002a0001c0001t0008g0004a0001c0001t0008g0012others(32): Show | 35 | 336 | 0.1042 | -5 | c.-10 others(16): Show |
ANGPT2 | ENSG00000091879.14 | transcript | ENST00000629816.3 | protein_coding | 732 | chr8 | TogoVar | ||||||
ANGPTL1_chr1_178844535_178876077 | 178856394 | ATTTTT | A | intron_variant | MODIFIER | HG02055.hp2 HG02258.hp1 HG02280.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0013a0001c0003t0004 | a0001c0001t0003g0040a0001c0001t0003g0276a0001c0001t0013g0085others(5): Show | 9 | 424 | 0.0212 | -5 | c.824 others(22): Show |
ANGPTL1 | ENSG00000116194.13 | transcript | ENST00000234816.7 | protein_coding | 3/5 | chr1 | TogoVar | ||||||
ANGPTL4_chr19_8359155_8379370 | 8362831 | CTCCCA | C | upstream_gene_variant | MODIFIER | HG01891.hp1 HG01934.hp1 HG02258.hp1 others(2): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0019a0003c0003t0001g0096 | 5 | 408 | 0.0123 | -5 | c.-14 others(16): Show |
ANGPTL4 | ENSG00000167772.12 | transcript | ENST00000301455.7 | protein_coding | 1323 | chr19 | TogoVar | ||||||
ANGPTL5_chr11_101885674_101921522 | 101911094 | CTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00639.hp1 others(45): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0002a0001c0001t0007a0004c0006t0002 | a0001c0001t0002g0003a0001c0001t0002g0005a0001c0001t0002g0016others(26): Show | 48 | 422 | 0.1137 | -5 | c.-92 others(22): Show |
ANGPTL5 | ENSG00000187151.7 | transcript | ENST00000334289.7 | protein_coding | 1/8 | chr11 | TogoVar | ||||||
ANGPTL6_chr19_10087338_10107678 | 10104312 | TGTGTG | T | upstream_gene_variant | MODIFIER | HG00741.hp1 HG01069.hp2 HG01071.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(9): Show | 19 | 462 | 0.0411 | -5 | c.-17 others(16): Show |
ANGPTL6 | ENSG00000130812.11 | transcript | ENST00000253109.5 | protein_coding | 1635 | chr19 | TogoVar | ||||||
ANHX_chr12_133213312_133240877 | 133225274 | TCTTTC | T | intron_variant | MODIFIER | HG02145.hp1 HG02896.hp2 HG03130.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001a0002c0002t0005 | a0001c0001t0002g0061a0002c0002t0001g0137a0002c0002t0005g0211 | 3 | 442 | 0.0068 | -5 | c.113 others(22): Show |
ANHX | ENSG00000227059.7 | transcript | ENST00000545940.6 | protein_coding | 7/9 | chr12 | TogoVar | ||||||
ANK1_chr8_41648225_41802622 | 41664498 | AAAGAG | A | intron_variant | MODIFIER | HG00423.hp2 HG00639.hp2 HG00738.hp2 others(37): Show |
a0001a0015a0016 | a0001c0004a0001c0009a0001c0016others(4): Show | a0001c0004t0001a0001c0004t0002a0001c0004t0024others(6): Show | a0001c0004t0001g0109a0001c0004t0001g0159a0001c0004t0002g0066others(37): Show | 40 | 278 | 0.1439 | -5 | c.539 others(22): Show |
ANK1 | ENSG00000029534.22 | transcript | ENST00000289734.13 | protein_coding | 39/42 | chr8 | TogoVar | ||||||
ANK1_chr8_41648225_41802622 | 41738077 | CAGAAG | C | intron_variant | MODIFIER | HG02071.hp2 HG02074.hp2 HG02080.hp1 others(3): Show |
a0001 | a0001c0010 | a0001c0010t0002a0001c0010t0003 | a0001c0010t0002g0056a0001c0010t0003g0002a0001c0010t0003g0114others(3): Show | 6 | 278 | 0.0216 | -5 | c.130 others(22): Show |
ANK1 | ENSG00000029534.22 | transcript | ENST00000289734.13 | protein_coding | 2/42 | chr8 | TogoVar | ||||||
ANK1_chr8_41648225_41802622 | 41763884 | TTTTTC | T | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00735.hp1 others(29): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(9): Show | a0001c0001t0001g0191a0001c0001t0001g0214a0001c0001t0002g0063others(29): Show | 32 | 278 | 0.1151 | -5 | c.28- others(20): Show |
ANK1 | ENSG00000029534.22 | transcript | ENST00000289734.13 | protein_coding | 1/42 | chr8 | TogoVar | ||||||
ANK2_chr4_113044653_113388736 | 113048271 | TATATA | T | upstream_gene_variant | MODIFIER | HG03579.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022a0001c0001t0001g0031 | 2 | 178 | 0.0112 | -5 | c.-14 others(16): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 1381 | chr4 | TogoVar | ||||||
ANK2_chr4_113044653_113388736 | 113069057 | TGAAAA | T | intron_variant | MODIFIER | HG00639.hp1 HG02572.hp2 HG02897.hp2 others(1): Show |
a0001a0002a0010 | a0001c0001a0002c0002a0010c0026 | a0001c0001t0001a0002c0002t0001a0010c0026t0001 | a0001c0001t0001g0046a0002c0002t0001g0045a0002c0002t0001g0047others(1): Show | 4 | 178 | 0.0225 | -5 | c.84+ others(22): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 1/45 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ANK2_chr4_113044653_113388736 | 113069076 | GAGAAA | G | intron_variant | MODIFIER | HG02040.hp1 NA18612.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0139 | 2 | 178 | 0.0112 | -5 | c.84+ others(22): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 1/45 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ANK2_chr4_113044653_113388736 | 113140286 | ATTAAT | A | intron_variant | MODIFIER | HG00639.hp2 HG01433.hp1 HG02258.hp2 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0010a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0010t0001others(3): Show | a0001c0001t0001g0023a0001c0001t0001g0110a0001c0001t0001g0121others(7): Show | 10 | 178 | 0.0562 | -5 | c.85- others(22): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 1/45 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ANK2_chr4_113044653_113388736 | 113151901 | CAAAAA | C | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG00609.hp2 others(40): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0002c0002others(8): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(8): Show | a0001c0001t0001g0036a0001c0001t0001g0037a0001c0001t0001g0040others(40): Show | 43 | 178 | 0.2416 | -5 | c.85- others(22): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 1/45 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ANK2_chr4_113044653_113388736 | 113186582 | CTCTCT | C | intron_variant | MODIFIER | HG01884.hp1 HG02258.hp1 HG02293.hp2 others(12): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0004a0001c0007others(4): Show | a0001c0001t0001a0001c0004t0001a0001c0007t0001others(4): Show | a0001c0001t0001g0022a0001c0004t0001g0122a0001c0007t0001g0074others(12): Show | 15 | 178 | 0.0843 | -5 | c.187 others(22): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 2/45 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ANK2_chr4_113044653_113388736 | 113300082 | GTATAT | G | intron_variant | MODIFIER | HG00642.hp1 HG01069.hp1 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0003c0006t0002 | a0001c0001t0001g0009a0003c0006t0002g0129 | 2 | 178 | 0.0112 | -5 | c.247 others(24): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 22/45 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ANK2_chr4_113044653_113388736 | 113315017 | TCTCTA | T | intron_variant | MODIFIER | HG00609.hp1 HG00639.hp1 HG00642.hp2 others(48): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0007others(13): Show | a0001c0001t0001a0001c0004t0001a0001c0007t0001others(15): Show | a0001c0001t0001g0022a0001c0001t0001g0044a0001c0001t0001g0078others(48): Show | 51 | 178 | 0.2865 | -5 | c.269 others(24): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 24/45 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ANK2_chr4_113044653_113388736 | 113326469 | TTAGAG | T | intron_variant | MODIFIER | HG02055.hp2 HG02056.hp2 NA18522.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002a0002c0002t0001g0016a0002c0002t0001g0028others(3): Show | 6 | 178 | 0.0337 | -5 | c.290 others(24): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 26/45 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ANK2_chr4_113044653_113388736 | 113365688 | CTCTTA | C | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp2 HG01106.hp1 others(1): Show |
a0003 | a0003c0006a0003c0020 | a0003c0006t0002a0003c0020t0002 | a0003c0006t0002g0064a0003c0006t0002g0129a0003c0006t0002g0154others(1): Show | 4 | 178 | 0.0225 | -5 | c.110 others(24): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 41/45 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ANK3_chr10_60021298_60394875 | 60118669 | TGAGTG | T | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00544.hp1 others(77): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0007others(33): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(58): Show | a0001c0001t0001g0062a0001c0001t0001g0067a0001c0001t0001g0082others(77): Show | 80 | 192 | 0.4167 | -5 | c.284 others(24): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 25/43 | chr10 | TogoVar | ||||||
ANK3_chr10_60021298_60394875 | 60168534 | CTTGTT | C | intron_variant | MODIFIER | HG02630.hp1 HG02886.hp1 HG02896.hp1 others(1): Show |
a0001a0004a0008 | a0001c0001a0004c0010a0004c0026others(1): Show | a0001c0001t0007a0004c0010t0023a0004c0026t0021others(1): Show | a0001c0001t0007g0180a0004c0010t0023g0037a0004c0026t0021g0026others(1): Show | 4 | 192 | 0.0208 | -5 | c.247 others(24): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 21/43 | chr10 | TogoVar | ||||||
ANK3_chr10_60021298_60394875 | 60187134 | ATTTAT | A | intron_variant | MODIFIER | HG00323.hp1 HG01070.hp1 HG01070.hp2 others(44): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0002a0001c0005others(33): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(40): Show | a0001c0001t0001g0133a0001c0001t0007g0053a0001c0001t0007g0054others(44): Show | 47 | 192 | 0.2448 | -5 | c.188 others(22): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 16/43 | chr10 | TogoVar |