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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCC2_chr10_99777640_99857594 | 99778449 | C | CAGAGAGA others(25): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 HG00673.hp1 HG01123.hp2 others(46): Show |
a0001a0002a0020others(1): Show | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0002t0003a0001c0005t0001others(4): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0137others(46): Show | 49 | 336 | 0.1458 | 32 | c.-43 others(43): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 4190 | chr10 | TogoVar | ||||||
ABCC2_chr10_99777640_99857594 | 99795801 | A | AAGAAAGA others(25): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0279 | 1 | 336 | 0.0030 | 32 | c.633 others(49): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 6/31 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ABCC3_chr17_50629881_50697253 | 50673978 | T | TTCTTTCT others(25): Show |
intron_variant | MODIFIER | HG01261.hp1 NA18968.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0166 | 2 | 342 | 0.0059 | 32 | c.259 others(49): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 19/30 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ABCC3_chr17_50629881_50697253 | 50673978 | T | TTCTTTCT others(25): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0264 | 1 | 342 | 0.0029 | 32 | c.259 others(49): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 19/30 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ABCC3_chr17_50629881_50697253 | 50674030 | C | CTCTTTCT others(25): Show |
intron_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 | 1 | 342 | 0.0029 | 32 | c.259 others(49): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 19/30 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ABCC3_chr17_50629881_50697253 | 50674034 | C | CTCTTTCT others(25): Show |
intron_variant | MODIFIER | HG01167.hp1 NA18991.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0275a0001c0001t0001g0330 | 2 | 342 | 0.0059 | 32 | c.259 others(49): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 19/30 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ABCC4_chr13_95014835_95306451 | 95244596 | T | TGAAAGAA others(25): Show |
intron_variant | MODIFIER | NA18747.hp1 NA18951.hp1 NA18951.hp2 |
a0001a0002 | a0001c0001a0002c0004a0002c0005 | a0001c0001t0001a0002c0004t0001a0002c0005t0002 | a0001c0001t0001g0211a0002c0004t0001g0079a0002c0005t0002g0217 | 3 | 248 | 0.0121 | 32 | c.306 others(49): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 3/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95247918 | G | GCACACAC others(25): Show |
intron_variant | MODIFIER | HG02630.hp1 HG03139.hp2 |
a0001a0002 | a0001c0003a0002c0072 | a0001c0003t0003a0002c0072t0002 | a0001c0003t0003g0135a0002c0072t0002g0041 | 2 | 248 | 0.0081 | 32 | c.75- others(45): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 1/30 | chr13 | TogoVar | ||||||
ABCC5_chr3_183914934_184022884 | 183950088 | G | GATGAACA others(25): Show |
frameshift_variant | HIGH | HG03654.hp1 | a0006 | a0006c0019 | a0006c0019t0002 | a0006c0019t0002g0320 | 1 | 378 | 0.0027 | 32 | c.295 others(41): Show |
p.Ile others(5): Show |
ABCC5 | ENSG00000114770.17 | transcript | ENST00000334444.11 | protein_coding | 21/30 | 3091/5790 | 2981/4314 | 994/1437 | chr3 | TogoVar | ||
ABCC5_chr3_183914934_184022884 | 183956127 | T | TATCACAT others(25): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0319 | 1 | 378 | 0.0027 | 32 | c.248 others(51): Show |
ABCC5 | ENSG00000114770.17 | transcript | ENST00000334444.11 | protein_coding | 17/29 | chr3 | TogoVar | ||||||
ABCC5_chr3_183914934_184022884 | 183957555 | G | GATCCGTG others(25): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01175.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006a0001c0001t0007 | a0001c0001t0005g0190a0001c0001t0006g0002a0001c0001t0006g0015others(12): Show | 16 | 378 | 0.0423 | 32 | c.248 others(51): Show |
ABCC5 | ENSG00000114770.17 | transcript | ENST00000334444.11 | protein_coding | 17/29 | chr3 | TogoVar | ||||||
ABCC5_chr3_183914934_184022884 | 183957727 | C | CATCACAT others(25): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01891.hp2 HG02055.hp2 others(23): Show |
a0001 | a0001c0004 | a0001c0004t0002a0001c0004t0004 | a0001c0004t0002g0070a0001c0004t0002g0304a0001c0004t0004g0112others(23): Show | 26 | 378 | 0.0688 | 32 | c.248 others(51): Show |
ABCC5 | ENSG00000114770.17 | transcript | ENST00000334444.11 | protein_coding | 17/29 | chr3 | TogoVar | ||||||
ABCC5_chr3_183914934_184022884 | 183957743 | T | TGCGGATC others(25): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02559.hp2 |
a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0132a0001c0004t0004g0133a0001c0004t0004g0134 | 3 | 378 | 0.0079 | 32 | c.248 others(51): Show |
ABCC5 | ENSG00000114770.17 | transcript | ENST00000334444.11 | protein_coding | 17/29 | chr3 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21915286 | G | GTATGTAT others(25): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(64): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0032others(63): Show | 67 | 212 | 0.3160 | 32 | c.816 others(47): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 7/39 | chr12 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21941598 | T | TACCTTTA others(25): Show |
upstream_gene_variant | MODIFIER | HG02027.hp1 NA18962.hp1 NA18967.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116a0001c0001t0001g0118a0001c0001t0001g0167 | 3 | 212 | 0.0142 | 32 | c.-53 others(41): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 173 | chr12 | TogoVar | ||||||
ABCF3_chr3_184181199_184199005 | 184191739 | G | GTTCCTTT others(25): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 416 | 0.0024 | 32 | c.156 others(49): Show |
ABCF3 | ENSG00000161204.12 | transcript | ENST00000429586.7 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABCG2_chr4_88085269_88163639 | 88115232 | G | GTCTCTCT others(25): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01884.hp2 HG01952.hp1 others(16): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(4): Show | a0001c0001t0001g0189a0001c0001t0001g0191a0001c0001t0001g0231others(16): Show | 19 | 350 | 0.0543 | 32 | c.842 others(47): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 7/15 | chr4 | TogoVar | ||||||
ABCG2_chr4_88085269_88163639 | 88115256 | C | CTCTCTCT others(25): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0341 | 1 | 350 | 0.0029 | 32 | c.842 others(47): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 7/15 | chr4 | TogoVar | ||||||
ABCG2_chr4_88085269_88163639 | 88115256 | C | CTCTCTCT others(25): Show |
intron_variant | MODIFIER | HG00621.hp2 NA18982.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0008a0002c0002t0002 | a0001c0001t0008g0340a0002c0002t0002g0246 | 2 | 350 | 0.0057 | 32 | c.842 others(47): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 7/15 | chr4 | TogoVar | ||||||
ABCG2_chr4_88085269_88163639 | 88115256 | C | CTCTCTCT others(25): Show |
intron_variant | MODIFIER | HG01952.hp2 HG03139.hp2 NA19054.hp2 |
a0001a0002 | a0001c0005a0002c0002a0002c0004 | a0001c0005t0001a0002c0002t0002a0002c0004t0001 | a0001c0005t0001g0099a0002c0002t0002g0036a0002c0004t0001g0323 | 3 | 350 | 0.0086 | 32 | c.842 others(47): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 7/15 | chr4 | TogoVar | ||||||
ABCG2_chr4_88085269_88163639 | 88115256 | C | CTCTCTCT others(25): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG01106.hp2 others(6): Show |
a0002a0003a0010 | a0002c0002a0003c0003a0010c0009 | a0002c0002t0002a0003c0003t0001a0010c0009t0001 | a0002c0002t0002g0009a0002c0002t0002g0014a0002c0002t0002g0016others(6): Show | 9 | 350 | 0.0257 | 32 | c.842 others(47): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 7/15 | chr4 | TogoVar | ||||||
ABCG2_chr4_88085269_88163639 | 88115256 | C | CTCTCTCT others(25): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01943.hp1 HG01993.hp1 others(5): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0002a0003c0003t0001 | a0001c0001t0001g0223a0001c0001t0001g0263a0002c0002t0002g0017others(4): Show | 8 | 350 | 0.0229 | 32 | c.842 others(47): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 7/15 | chr4 | TogoVar | ||||||
ABCG2_chr4_88085269_88163639 | 88147016 | G | GGAAAGAA others(25): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00642.hp1 HG01109.hp1 others(20): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0002c0002t0001 | a0001c0001t0001g0062a0001c0001t0001g0082a0001c0001t0001g0122others(20): Show | 23 | 350 | 0.0657 | 32 | c.-19 others(49): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 1/15 | chr4 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50870908 | C | CAAGAAAG others(25): Show |
upstream_gene_variant | MODIFIER | HG01517.hp1 HG02615.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0007a0001c0001t0003g0142 | 2 | 376 | 0.0053 | 32 | c.-12 others(43): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1144 | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50870983 | G | GAAAGAAA others(25): Show |
upstream_gene_variant | MODIFIER | HG02071.hp2 NA18612.hp2 |
a0002 | a0002c0002a0002c0004 | a0002c0002t0002a0002c0004t0002 | a0002c0002t0002g0003a0002c0004t0002g0147 | 2 | 376 | 0.0053 | 32 | c.-11 others(43): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1069 | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50870983 | G | GAAAGAAA others(25): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG02055.hp2 HG02135.hp1 others(2): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0007 | a0001c0001t0001a0001c0001t0003a0002c0002t0002others(1): Show | a0001c0001t0001g0061a0001c0001t0003g0192a0002c0002t0002g0345others(2): Show | 5 | 376 | 0.0133 | 32 | c.-11 others(43): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1069 | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50870983 | G | GAAAGAAA others(25): Show |
upstream_gene_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0328 | 1 | 376 | 0.0027 | 32 | c.-11 others(43): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1069 | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50870983 | G | GAAAGAGA others(25): Show |
upstream_gene_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 376 | 0.0027 | 32 | c.-11 others(43): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1069 | chr14 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25322362 | G | GATATATA others(25): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0172 | 1 | 316 | 0.0032 | 32 | c.422 others(47): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 3/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25322381 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0291 | 1 | 316 | 0.0032 | 32 | c.422 others(47): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 3/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25322381 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02895.hp2 |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0006 | a0001c0003t0002g0256a0001c0003t0006g0251 | 2 | 316 | 0.0063 | 32 | c.422 others(47): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 3/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25322381 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG02486.hp1 NA19240.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0002 | a0001c0001t0004g0225a0001c0002t0002g0201 | 2 | 316 | 0.0063 | 32 | c.422 others(47): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 3/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25322381 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0140 | 1 | 316 | 0.0032 | 32 | c.422 others(47): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 3/12 | chr20 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 128034091 | T | TAATCCGA others(25): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0111 | 1 | 344 | 0.0029 | 32 | c.134 others(51): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 12/12 | chr4 | TogoVar | ||||||
ABHD6_chr3_58232792_58299734 | 58286848 | G | GCATATAT others(25): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0187 | 1 | 302 | 0.0033 | 32 | c.837 others(49): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | chr3 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26773215 | C | CTTTTTTT others(25): Show |
intron_variant | MODIFIER | HG00597.hp2 HG02040.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037a0001c0001t0001g0117 | 2 | 358 | 0.0056 | 32 | c.463 others(49): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 3/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26811721 | A | ACAAAGAT others(25): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02738.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0271a0001c0001t0007g0101 | 2 | 358 | 0.0056 | 32 | c.285 others(51): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 2/10 | chr10 | TogoVar | ||||||
ABITRAM_chr9_108929400_108945954 | 108930587 | G | GGCTGAGG others(25): Show |
upstream_gene_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 458 | 0.0022 | 32 | c.-39 others(43): Show |
ABITRAM | ENSG00000119328.12 | transcript | ENST00000322940.11 | protein_coding | 3812 | chr9 | TogoVar | ||||||
ABL2_chr1_179094330_179234677 | 179174532 | G | GTGTGTGT others(25): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0242 | 1 | 350 | 0.0029 | 32 | c.158 others(51): Show |
ABL2 | ENSG00000143322.22 | transcript | ENST00000502732.6 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
ABLIM1_chr10_114426112_114663275 | 114491012 | G | GTGTGTGT others(25): Show |
intron_variant | MODIFIER | HG03017.hp1 HG03927.hp1 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0058 | a0001c0003t0001g0231a0001c0003t0058g0214 | 2 | 256 | 0.0078 | 32 | c.982 others(47): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 7/22 | chr10 | TogoVar | ||||||
ABLIM1_chr10_114426112_114663275 | 114491012 | G | GTGTGTGT others(25): Show |
intron_variant | MODIFIER | HG02071.hp1 NA19065.hp2 NA19091.hp2 |
a0001 | a0001c0003a0001c0010 | a0001c0003t0002a0001c0010t0025 | a0001c0003t0002g0192a0001c0003t0002g0193a0001c0010t0025g0037 | 3 | 256 | 0.0117 | 32 | c.982 others(47): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 7/22 | chr10 | TogoVar | ||||||
ABLIM2_chr4_7960327_8163813 | 7973075 | C | CTGTGTGT others(25): Show |
intron_variant | MODIFIER | HG01069.hp2 HG02451.hp1 HG02965.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0001g0279a0001c0001t0001g0311a0001c0001t0003g0190others(7): Show | 10 | 322 | 0.0311 | 32 | c.182 others(51): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 20/20 | chr4 | TogoVar | ||||||
ABLIM2_chr4_7960327_8163813 | 8066360 | G | GGGAGGGA others(25): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0062 | 1 | 322 | 0.0031 | 32 | c.676 others(49): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 6/20 | chr4 | TogoVar | ||||||
ABLIM2_chr4_7960327_8163813 | 8091545 | A | ATTATTTA others(25): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0226 | 1 | 322 | 0.0031 | 32 | c.339 others(49): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 3/20 | chr4 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1031836 | T | TTCCCCCG others(25): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 337 | 0.0030 | 32 | c.179 others(53): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1031837 | T | TCCCCCGC others(25): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0046 | 1 | 337 | 0.0030 | 32 | c.179 others(53): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1136310 | G | GCTCCACC others(25): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(137): Show |
a0001 | a0001c0001a0001c0002a0001c0010others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0001a0001c0001t0001g0058a0001c0001t0001g0061others(136): Show | 140 | 337 | 0.4154 | 32 | c.62- others(49): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107508438 | C | CTTTTTTT others(25): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0062 | 1 | 186 | 0.0054 | 32 | c.113 others(53): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ABTB3_chr12_107313434_107664642 | 107640967 | G | GAGGAGAG others(25): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 186 | 0.0054 | 32 | c.284 others(49): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACA_chr17_37079992_37411836 | 37163196 | T | TAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG02630.hp2 NA18991.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0069a0001c0003t0001g0078 | 2 | 299 | 0.0067 | 32 | c.508 others(51): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 41/55 | chr17 | TogoVar |