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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCC9_chr12_21792389_21946426 | 21874137 | C | CA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(206): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(205): Show | 209 | 212 | 0.9859 | 1 | c.209 others(10): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 17/39 | chr12 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21879853 | G | GA | intron_variant | MODIFIER | HG02572.hp1 HG02896.hp1 HG02897.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0069a0001c0001t0002g0043a0001c0001t0004g0023others(5): Show | 8 | 212 | 0.0377 | 1 | c.201 others(10): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 16/39 | chr12 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21887113 | G | GC | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00639.hp1 others(20): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0006a0001c0001t0024others(1): Show | a0001c0001t0001g0007a0001c0001t0001g0026a0001c0001t0001g0072others(20): Show | 23 | 212 | 0.1085 | 1 | c.191 others(9): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 15/39 | chr12 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21895710 | A | AT | intron_variant | MODIFIER | HG01891.hp1 HG02486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044a0001c0001t0001g0047 | 2 | 212 | 0.0094 | 1 | c.161 others(9): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 12/39 | chr12 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21896079 | C | CT | intron_variant | MODIFIER | HG00408.hp1 HG02027.hp2 HG02040.hp2 others(17): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0001t0010a0001c0010t0001 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(17): Show | 20 | 212 | 0.0943 | 1 | c.161 others(9): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 12/39 | chr12 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21897863 | C | CA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(208): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(207): Show | 211 | 212 | 0.9953 | 1 | c.161 others(10): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 12/39 | chr12 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21904180 | A | AT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(208): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(207): Show | 211 | 212 | 0.9953 | 1 | c.161 others(20): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 12/39 | chr12 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21912765 | G | GA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(118): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0008others(118): Show | 121 | 212 | 0.5708 | 1 | c.101 others(9): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 8/39 | chr12 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21913083 | G | GA | intron_variant | MODIFIER | HG00408.hp2 HG02129.hp2 HG03704.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017 | a0001c0001t0001g0040a0001c0001t0001g0137a0001c0001t0001g0138others(5): Show | 8 | 212 | 0.0377 | 1 | c.817 others(7): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 7/39 | chr12 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21915267 | A | AC | intron_variant | MODIFIER | HG00408.hp2 HG02129.hp2 NA18612.hp2 others(5): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0014a0001c0001t0017others(1): Show | a0001c0001t0001g0040a0001c0001t0001g0138a0001c0001t0001g0139others(5): Show | 8 | 212 | 0.0377 | 1 | c.816 others(16): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 7/39 | chr12 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21922751 | C | CT | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00438.hp2 others(94): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(19): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0008others(94): Show | 97 | 212 | 0.4576 | 1 | c.406 others(9): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 5/39 | chr12 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21931397 | T | TA | intron_variant | MODIFIER | HG02055.hp2 HG02965.hp1 HG02965.hp2 others(3): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0012 | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(2): Show | a0001c0001t0001g0032a0001c0002t0001g0184a0001c0002t0001g0185others(3): Show | 6 | 212 | 0.0283 | 1 | c.284 others(9): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 4/39 | chr12 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21942833 | A | AT | upstream_gene_variant | MODIFIER | HG00323.hp2 NA18947.hp2 NA18978.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075a0001c0001t0001g0136a0001c0001t0001g0161others(2): Show | 5 | 212 | 0.0236 | 1 | c.-17 others(12): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 1408 | chr12 | TogoVar | ||||||
ABCD1_chrX_153719856_153749755 | 153720367 | C | CT | upstream_gene_variant | MODIFIER | HG00738.hp1 NA19063.hp1 NA19084.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002a0001c0001t0002g0001 | 3 | 285 | 0.0105 | 1 | c.-49 others(12): Show |
ABCD1 | ENSG00000101986.12 | transcript | ENST00000218104.6 | protein_coding | 4488 | chrX | TogoVar | ||||||
ABCD1_chrX_153719856_153749755 | 153720473 | T | TC | upstream_gene_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 285 | 0.0035 | 1 | c.-47 others(12): Show |
ABCD1 | ENSG00000101986.12 | transcript | ENST00000218104.6 | protein_coding | 4382 | chrX | TogoVar | ||||||
ABCD1_chrX_153719856_153749755 | 153720647 | A | AG | upstream_gene_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 285 | 0.0035 | 1 | c.-46 others(12): Show |
ABCD1 | ENSG00000101986.12 | transcript | ENST00000218104.6 | protein_coding | 4208 | chrX | TogoVar | ||||||
ABCD1_chrX_153719856_153749755 | 153720765 | T | TC | upstream_gene_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 285 | 0.0035 | 1 | c.-45 others(12): Show |
ABCD1 | ENSG00000101986.12 | transcript | ENST00000218104.6 | protein_coding | 4090 | chrX | TogoVar | ||||||
ABCD1_chrX_153719856_153749755 | 153720796 | T | TG | upstream_gene_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0093 | 1 | 285 | 0.0035 | 1 | c.-44 others(12): Show |
ABCD1 | ENSG00000101986.12 | transcript | ENST00000218104.6 | protein_coding | 4059 | chrX | TogoVar | ||||||
ABCD1_chrX_153719856_153749755 | 153720880 | A | AC | upstream_gene_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0093 | 1 | 285 | 0.0035 | 1 | c.-43 others(12): Show |
ABCD1 | ENSG00000101986.12 | transcript | ENST00000218104.6 | protein_coding | 3975 | chrX | TogoVar | ||||||
ABCD1_chrX_153719856_153749755 | 153720886 | A | AG | upstream_gene_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0093 | 1 | 285 | 0.0035 | 1 | c.-43 others(12): Show |
ABCD1 | ENSG00000101986.12 | transcript | ENST00000218104.6 | protein_coding | 3969 | chrX | TogoVar | ||||||
ABCD1_chrX_153719856_153749755 | 153721435 | C | CA | upstream_gene_variant | MODIFIER | HG01891.hp1 HG01891.hp2 HG02074.hp1 others(17): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0041a0001c0001t0001g0052others(11): Show | 20 | 285 | 0.0702 | 1 | c.-38 others(12): Show |
ABCD1 | ENSG00000101986.12 | transcript | ENST00000218104.6 | protein_coding | 3420 | chrX | TogoVar | ||||||
ABCD1_chrX_153719856_153749755 | 153721497 | C | CT | upstream_gene_variant | MODIFIER | NA18955.hp1 NA18985.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0001a0001c0001t0010g0001 | 2 | 285 | 0.0070 | 1 | c.-37 others(12): Show |
ABCD1 | ENSG00000101986.12 | transcript | ENST00000218104.6 | protein_coding | 3358 | chrX | TogoVar | ||||||
ABCD1_chrX_153719856_153749755 | 153722549 | G | GA | upstream_gene_variant | MODIFIER | HG03098.hp1 NA19067.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0002a0001c0001t0003g0004 | 2 | 285 | 0.0070 | 1 | c.-27 others(12): Show |
ABCD1 | ENSG00000101986.12 | transcript | ENST00000218104.6 | protein_coding | 2306 | chrX | TogoVar | ||||||
ABCD1_chrX_153719856_153749755 | 153722759 | G | GT | upstream_gene_variant | MODIFIER | NA18953.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0059 | 1 | 285 | 0.0035 | 1 | c.-25 others(12): Show |
ABCD1 | ENSG00000101986.12 | transcript | ENST00000218104.6 | protein_coding | 2096 | chrX | TogoVar | ||||||
ABCD1_chrX_153719856_153749755 | 153723002 | C | CA | upstream_gene_variant | MODIFIER | NA18953.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0059 | 1 | 285 | 0.0035 | 1 | c.-22 others(12): Show |
ABCD1 | ENSG00000101986.12 | transcript | ENST00000218104.6 | protein_coding | 1853 | chrX | TogoVar | ||||||
ABCD1_chrX_153719856_153749755 | 153723743 | A | AG | upstream_gene_variant | MODIFIER | NA19006.hp1 | a0002 | a0002c0012 | a0002c0012t0011 | a0002c0012t0011g0025 | 1 | 285 | 0.0035 | 1 | c.-15 others(12): Show |
ABCD1 | ENSG00000101986.12 | transcript | ENST00000218104.6 | protein_coding | 1112 | chrX | TogoVar | ||||||
ABCD1_chrX_153719856_153749755 | 153723779 | G | GC | upstream_gene_variant | MODIFIER | NA19006.hp1 | a0002 | a0002c0012 | a0002c0012t0011 | a0002c0012t0011g0025 | 1 | 285 | 0.0035 | 1 | c.-14 others(12): Show |
ABCD1 | ENSG00000101986.12 | transcript | ENST00000218104.6 | protein_coding | 1076 | chrX | TogoVar | ||||||
ABCD1_chrX_153719856_153749755 | 153723796 | T | TC | upstream_gene_variant | MODIFIER | NA19006.hp1 | a0002 | a0002c0012 | a0002c0012t0011 | a0002c0012t0011g0025 | 1 | 285 | 0.0035 | 1 | c.-14 others(12): Show |
ABCD1 | ENSG00000101986.12 | transcript | ENST00000218104.6 | protein_coding | 1059 | chrX | TogoVar | ||||||
ABCD1_chrX_153719856_153749755 | 153723844 | G | GC | upstream_gene_variant | MODIFIER | NA19006.hp1 | a0002 | a0002c0012 | a0002c0012t0011 | a0002c0012t0011g0025 | 1 | 285 | 0.0035 | 1 | c.-14 others(12): Show |
ABCD1 | ENSG00000101986.12 | transcript | ENST00000218104.6 | protein_coding | 1011 | chrX | TogoVar | ||||||
ABCD1_chrX_153719856_153749755 | 153723877 | T | TG | upstream_gene_variant | MODIFIER | NA19006.hp1 | a0002 | a0002c0012 | a0002c0012t0011 | a0002c0012t0011g0025 | 1 | 285 | 0.0035 | 1 | c.-13 others(12): Show |
ABCD1 | ENSG00000101986.12 | transcript | ENST00000218104.6 | protein_coding | 978 | chrX | TogoVar | ||||||
ABCD1_chrX_153719856_153749755 | 153723887 | G | GC | upstream_gene_variant | MODIFIER | NA19006.hp1 | a0002 | a0002c0012 | a0002c0012t0011 | a0002c0012t0011g0025 | 1 | 285 | 0.0035 | 1 | c.-13 others(12): Show |
ABCD1 | ENSG00000101986.12 | transcript | ENST00000218104.6 | protein_coding | 968 | chrX | TogoVar | ||||||
ABCD1_chrX_153719856_153749755 | 153723908 | A | AG | upstream_gene_variant | MODIFIER | NA19006.hp1 | a0002 | a0002c0012 | a0002c0012t0011 | a0002c0012t0011g0025 | 1 | 285 | 0.0035 | 1 | c.-13 others(12): Show |
ABCD1 | ENSG00000101986.12 | transcript | ENST00000218104.6 | protein_coding | 947 | chrX | TogoVar | ||||||
ABCD1_chrX_153719856_153749755 | 153724030 | G | GC | upstream_gene_variant | MODIFIER | NA19006.hp1 | a0002 | a0002c0012 | a0002c0012t0011 | a0002c0012t0011g0025 | 1 | 285 | 0.0035 | 1 | c.-12 others(12): Show |
ABCD1 | ENSG00000101986.12 | transcript | ENST00000218104.6 | protein_coding | 825 | chrX | TogoVar | ||||||
ABCD1_chrX_153719856_153749755 | 153724131 | G | GC | upstream_gene_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0001 | 1 | 285 | 0.0035 | 1 | c.-11 others(12): Show |
ABCD1 | ENSG00000101986.12 | transcript | ENST00000218104.6 | protein_coding | 724 | chrX | TogoVar | ||||||
ABCD1_chrX_153719856_153749755 | 153724179 | T | TC | upstream_gene_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 285 | 0.0035 | 1 | c.-10 others(12): Show |
ABCD1 | ENSG00000101986.12 | transcript | ENST00000218104.6 | protein_coding | 676 | chrX | TogoVar | ||||||
ABCD1_chrX_153719856_153749755 | 153724186 | G | GC | upstream_gene_variant | MODIFIER | NA19006.hp1 | a0002 | a0002c0012 | a0002c0012t0011 | a0002c0012t0011g0025 | 1 | 285 | 0.0035 | 1 | c.-10 others(12): Show |
ABCD1 | ENSG00000101986.12 | transcript | ENST00000218104.6 | protein_coding | 669 | chrX | TogoVar | ||||||
ABCD1_chrX_153719856_153749755 | 153724298 | T | TC | upstream_gene_variant | MODIFIER | NA19006.hp1 | a0002 | a0002c0012 | a0002c0012t0011 | a0002c0012t0011g0025 | 1 | 285 | 0.0035 | 1 | c.-96 others(10): Show |
ABCD1 | ENSG00000101986.12 | transcript | ENST00000218104.6 | protein_coding | 557 | chrX | TogoVar | ||||||
ABCD1_chrX_153719856_153749755 | 153724359 | G | GC | upstream_gene_variant | MODIFIER | NA19006.hp1 | a0002 | a0002c0012 | a0002c0012t0011 | a0002c0012t0011g0025 | 1 | 285 | 0.0035 | 1 | c.-90 others(10): Show |
ABCD1 | ENSG00000101986.12 | transcript | ENST00000218104.6 | protein_coding | 496 | chrX | TogoVar | ||||||
ABCD1_chrX_153719856_153749755 | 153724420 | C | CG | upstream_gene_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 285 | 0.0035 | 1 | c.-84 others(10): Show |
ABCD1 | ENSG00000101986.12 | transcript | ENST00000218104.6 | protein_coding | 435 | chrX | TogoVar | ||||||
ABCD1_chrX_153719856_153749755 | 153724498 | A | AC | upstream_gene_variant | MODIFIER | NA19006.hp1 | a0002 | a0002c0012 | a0002c0012t0011 | a0002c0012t0011g0025 | 1 | 285 | 0.0035 | 1 | c.-76 others(10): Show |
ABCD1 | ENSG00000101986.12 | transcript | ENST00000218104.6 | protein_coding | 357 | chrX | TogoVar | ||||||
ABCD1_chrX_153719856_153749755 | 153724647 | C | CG | upstream_gene_variant | MODIFIER | NA19006.hp1 | a0002 | a0002c0012 | a0002c0012t0011 | a0002c0012t0011g0025 | 1 | 285 | 0.0035 | 1 | c.-62 others(10): Show |
ABCD1 | ENSG00000101986.12 | transcript | ENST00000218104.6 | protein_coding | 208 | chrX | TogoVar | ||||||
ABCD1_chrX_153719856_153749755 | 153724688 | A | AG | upstream_gene_variant | MODIFIER | NA19006.hp1 | a0002 | a0002c0012 | a0002c0012t0011 | a0002c0012t0011g0025 | 1 | 285 | 0.0035 | 1 | c.-57 others(10): Show |
ABCD1 | ENSG00000101986.12 | transcript | ENST00000218104.6 | protein_coding | 167 | chrX | TogoVar | ||||||
ABCD1_chrX_153719856_153749755 | 153724703 | A | AG | upstream_gene_variant | MODIFIER | HG02258.hp1 NA18994.hp1 NA19090.hp1 |
a0001a0004 | a0001c0001a0004c0010 | a0001c0001t0003a0004c0010t0003 | a0001c0001t0003g0011a0001c0001t0003g0023a0004c0010t0003g0092 | 3 | 285 | 0.0105 | 1 | c.-56 others(10): Show |
ABCD1 | ENSG00000101986.12 | transcript | ENST00000218104.6 | protein_coding | 152 | chrX | TogoVar | ||||||
ABCD1_chrX_153719856_153749755 | 153724938 | A | AG | 5_prime_UTR_variant | MODIFIER | NA19006.hp1 | a0002 | a0002c0012 | a0002c0012t0011 | a0002c0012t0011g0025 | 1 | 285 | 0.0035 | 1 | c.-32 others(5): Show |
ABCD1 | ENSG00000101986.12 | transcript | ENST00000218104.6 | protein_coding | 1/10 | 327 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
ABCD1_chrX_153719856_153749755 | 153725363 | T | TA | frameshift_variant others(1): Show |
HIGH | NA19006.hp1 | a0002 | a0002c0012 | a0002c0012t0011 | a0002c0012t0011g0025 | 1 | 285 | 0.0035 | 1 | c.98d others(3): Show |
p.Tyr others(4): Show |
ABCD1 | ENSG00000101986.12 | transcript | ENST00000218104.6 | protein_coding | 1/10 | 510/3669 | 99/2238 | 33/745 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
ABCD1_chrX_153719856_153749755 | 153725387 | G | GC | frameshift_variant | HIGH | NA19006.hp1 | a0002 | a0002c0012 | a0002c0012t0011 | a0002c0012t0011g0025 | 1 | 285 | 0.0035 | 1 | c.125 others(4): Show |
p.Ala others(4): Show |
ABCD1 | ENSG00000101986.12 | transcript | ENST00000218104.6 | protein_coding | 1/10 | 537/3669 | 126/2238 | 42/745 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
ABCD1_chrX_153719856_153749755 | 153725440 | C | CG | frameshift_variant | HIGH | NA19006.hp1 | a0002 | a0002c0012 | a0002c0012t0011 | a0002c0012t0011g0025 | 1 | 285 | 0.0035 | 1 | c.178 others(4): Show |
p.Val others(4): Show |
ABCD1 | ENSG00000101986.12 | transcript | ENST00000218104.6 | protein_coding | 1/10 | 590/3669 | 179/2238 | 60/745 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
ABCD1_chrX_153719856_153749755 | 153725469 | A | AC | frameshift_variant | HIGH | NA19006.hp1 | a0002 | a0002c0012 | a0002c0012t0011 | a0002c0012t0011g0025 | 1 | 285 | 0.0035 | 1 | c.205 others(4): Show |
p.Arg others(4): Show |
ABCD1 | ENSG00000101986.12 | transcript | ENST00000218104.6 | protein_coding | 1/10 | 617/3669 | 206/2238 | 69/745 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
ABCD1_chrX_153719856_153749755 | 153725512 | G | GT | frameshift_variant | HIGH | NA19006.hp1 | a0002 | a0002c0012 | a0002c0012t0011 | a0002c0012t0011g0025 | 1 | 285 | 0.0035 | 1 | c.248 others(4): Show |
p.Arg others(4): Show |
ABCD1 | ENSG00000101986.12 | transcript | ENST00000218104.6 | protein_coding | 1/10 | 660/3669 | 249/2238 | 83/745 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
ABCD1_chrX_153719856_153749755 | 153725808 | A | AC | frameshift_variant | HIGH | NA18992.hp2 | a0003 | a0003c0004 | a0003c0004t0013 | a0003c0004t0013g0062 | 1 | 285 | 0.0035 | 1 | c.544 others(4): Show |
p.Arg others(5): Show |
ABCD1 | ENSG00000101986.12 | transcript | ENST00000218104.6 | protein_coding | 1/10 | 956/3669 | 545/2238 | 182/745 | INFO_REALIGN_3_PRIME | chrX | TogoVar |