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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP7A_chrX_77905693_78055395 | 77907878 | ACT | A | upstream_gene_variant | MODIFIER | HG02615.hp2 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0010 | a0001c0001t0005g0013a0001c0001t0010g0012 | 2 | 233 | 0.0086 | -2 | c.-29 others(13): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2814 | chrX | TogoVar | ||||||
ATP7A_chrX_77905693_78055395 | 77908245 | TTA | T | upstream_gene_variant | MODIFIER | NA19063.hp1 | a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0114 | 1 | 233 | 0.0043 | -2 | c.-26 others(13): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2447 | chrX | TogoVar | ||||||
ATP7A_chrX_77905693_78055395 | 77909986 | CTT | C | upstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0014 | 1 | 233 | 0.0043 | -2 | c.-87 others(11): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 706 | chrX | TogoVar | ||||||
ATP7A_chrX_77905693_78055395 | 77928405 | TAC | T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00544.hp1 others(147): Show |
a0001a0002a0004others(8): Show | a0001c0001a0001c0005a0001c0008others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(29): Show | a0001c0001t0001g0005a0001c0001t0001g0022a0001c0001t0001g0026others(147): Show | 150 | 233 | 0.6438 | -2 | c.-22 others(21): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP7A_chrX_77905693_78055395 | 77931391 | GAA | G | intron_variant | MODIFIER | NA19030.hp2 | a0007 | a0007c0016 | a0007c0016t0007 | a0007c0016t0007g0231 | 1 | 233 | 0.0043 | -2 | c.-22 others(21): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP7A_chrX_77905693_78055395 | 77932303 | GAT | G | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0019 | 1 | 233 | 0.0043 | -2 | c.-22 others(21): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | TogoVar | ||||||
ATP7A_chrX_77905693_78055395 | 77932340 | ATG | A | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0019 | 1 | 233 | 0.0043 | -2 | c.-22 others(21): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | TogoVar | ||||||
ATP7A_chrX_77905693_78055395 | 77937866 | TTC | T | intron_variant | MODIFIER | HG02886.hp1 | a0005 | a0005c0006 | a0005c0006t0008 | a0005c0006t0008g0119 | 1 | 233 | 0.0043 | -2 | c.-22 others(21): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP7A_chrX_77905693_78055395 | 77937887 | TCA | T | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0147 | 1 | 233 | 0.0043 | -2 | c.-22 others(21): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP7A_chrX_77905693_78055395 | 77941075 | TAC | T | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0147 | 1 | 233 | 0.0043 | -2 | c.-22 others(21): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP7A_chrX_77905693_78055395 | 77946729 | TAA | T | intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0008 | 1 | 233 | 0.0043 | -2 | c.-21 others(21): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP7A_chrX_77905693_78055395 | 77950519 | CAT | C | intron_variant | MODIFIER | HG01074.hp1 HG01433.hp1 HG01515.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0029a0002c0002t0003g0030a0002c0002t0003g0031others(1): Show | 4 | 233 | 0.0172 | -2 | c.-21 others(21): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | TogoVar | ||||||
ATP7A_chrX_77905693_78055395 | 77962972 | CAT | C | intron_variant | MODIFIER | HG03831.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0222 | 1 | 233 | 0.0043 | -2 | c.-21 others(19): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP7A_chrX_77905693_78055395 | 77975481 | CTT | C | intron_variant | MODIFIER | HG01069.hp1 HG02809.hp1 HG03710.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0001c0001t0011a0002c0002t0002others(1): Show | a0001c0001t0005g0013a0001c0001t0011g0226a0002c0002t0002g0068others(1): Show | 4 | 233 | 0.0172 | -2 | c.120 others(19): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP7A_chrX_77905693_78055395 | 77981154 | CTT | C | intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 233 | 0.0043 | -2 | c.121 others(19): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP7A_chrX_77905693_78055395 | 77987444 | TTG | T | intron_variant | MODIFIER | HG00597.hp2 HG02080.hp2 NA19067.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0052a0001c0001t0004g0154a0001c0001t0004g0214 | 3 | 233 | 0.0129 | -2 | c.121 others(17): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP7A_chrX_77905693_78055395 | 77995567 | CAA | C | intron_variant | MODIFIER | HG02280.hp2 HG02895.hp1 |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0007a0006c0007t0005 | a0001c0001t0007g0008a0006c0007t0005g0138 | 2 | 233 | 0.0086 | -2 | c.133 others(21): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP7A_chrX_77905693_78055395 | 78002799 | TAC | T | intron_variant | MODIFIER | HG00558.hp2 HG00735.hp1 HG01074.hp1 others(44): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0014others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(13): Show | a0001c0001t0001g0041a0001c0001t0001g0157a0001c0001t0001g0168others(44): Show | 47 | 233 | 0.2017 | -2 | c.154 others(19): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP7A_chrX_77905693_78055395 | 78012176 | CTT | C | intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0184 | 1 | 233 | 0.0043 | -2 | c.217 others(19): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP7A_chrX_77905693_78055395 | 78012590 | TAA | T | intron_variant | MODIFIER | HG01515.hp1 HG03710.hp1 NA18953.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003a0002c0002t0006 | a0002c0002t0002g0067a0002c0002t0002g0068a0002c0002t0003g0031others(1): Show | 4 | 233 | 0.0172 | -2 | c.217 others(19): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP7A_chrX_77905693_78055395 | 78017765 | CTT | C | intron_variant | MODIFIER | HG00621.hp1 HG02922.hp1 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003 | a0002c0002t0002g0037a0002c0002t0003g0083 | 2 | 233 | 0.0086 | -2 | c.262 others(21): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP7A_chrX_77905693_78055395 | 78037980 | GTT | G | intron_variant | MODIFIER | NA19064.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0071 | 1 | 233 | 0.0043 | -2 | c.351 others(19): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP7A_chrX_77905693_78055395 | 78039117 | CAT | C | intron_variant | MODIFIER | HG01243.hp1 HG02258.hp1 HG02559.hp2 others(10): Show |
a0001a0007a0013 | a0001c0001a0007c0016a0013c0011 | a0001c0001t0007a0001c0001t0008a0001c0001t0020others(4): Show | a0001c0001t0007g0004a0001c0001t0007g0006a0001c0001t0007g0007others(10): Show | 13 | 233 | 0.0558 | -2 | c.365 others(19): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 18/22 | chrX | TogoVar | ||||||
ATP7A_chrX_77905693_78055395 | 78040199 | GCC | G | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(77): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(12): Show | a0001c0001t0003g0016a0001c0001t0005g0217a0001c0001t0007g0021others(76): Show | 80 | 233 | 0.3434 | -2 | c.365 others(19): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP7A_chrX_77905693_78055395 | 78042116 | CAA | C | intron_variant | MODIFIER | HG02280.hp2 | a0006 | a0006c0007 | a0006c0007t0005 | a0006c0007t0005g0138 | 1 | 233 | 0.0043 | -2 | c.380 others(19): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP7A_chrX_77905693_78055395 | 78048446 | CAG | C | 3_prime_UTR_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0184 | 1 | 233 | 0.0043 | -2 | c.*18 others(13): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 23/23 | 1879 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
ATP7A_chrX_77905693_78055395 | 78051630 | GCC | G | downstream_gene_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0166 | 1 | 233 | 0.0043 | -2 | c.*50 others(13): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1236 | chrX | TogoVar | ||||||
ATP7B_chr13_51927669_52016450 | 51931299 | CAA | C | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00733.hp1 others(20): Show |
a0002a0003a0005others(4): Show | a0002c0002a0003c0003a0005c0012others(4): Show | a0002c0002t0002a0003c0003t0004a0003c0003t0005others(8): Show | a0002c0002t0002g0136a0003c0003t0004g0037a0003c0003t0004g0125others(20): Show | 23 | 302 | 0.0762 | -2 | c.*34 others(13): Show |
ATP7B | ENSG00000123191.17 | transcript | ENST00000242839.10 | protein_coding | 1369 | chr13 | TogoVar | ||||||
ATP7B_chr13_51927669_52016450 | 51937139 | GAA | G | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00423.hp1 others(137): Show |
a0002a0003a0005others(7): Show | a0002c0002a0002c0014a0002c0019others(15): Show | a0002c0002t0002a0002c0002t0007a0002c0002t0008others(30): Show | a0002c0002t0002g0002a0002c0002t0002g0003a0002c0002t0002g0005others(127): Show | 140 | 302 | 0.4636 | -2 | c.402 others(19): Show |
ATP7B | ENSG00000123191.17 | transcript | ENST00000242839.10 | protein_coding | 19/20 | chr13 | TogoVar | ||||||
ATP7B_chr13_51927669_52016450 | 51940000 | CTT | C | intron_variant | MODIFIER | HG01167.hp2 HG01243.hp1 HG01934.hp1 others(12): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0005others(5): Show | a0001c0001t0001a0001c0001t0022a0002c0002t0002others(6): Show | a0001c0001t0001g0203a0001c0001t0001g0204a0001c0001t0001g0221others(12): Show | 15 | 302 | 0.0497 | -2 | c.355 others(19): Show |
ATP7B | ENSG00000123191.17 | transcript | ENST00000242839.10 | protein_coding | 16/20 | chr13 | TogoVar | ||||||
ATP7B_chr13_51927669_52016450 | 51943934 | ACT | A | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp1 HG02109.hp2 others(17): Show |
a0003a0008a0017 | a0003c0003a0008c0010a0017c0033 | a0003c0003t0005a0003c0003t0006a0003c0003t0013others(2): Show | a0003c0003t0005g0157a0003c0003t0006g0013a0003c0003t0006g0164others(16): Show | 20 | 302 | 0.0662 | -2 | c.324 others(19): Show |
ATP7B | ENSG00000123191.17 | transcript | ENST00000242839.10 | protein_coding | 14/20 | chr13 | TogoVar | ||||||
ATP7B_chr13_51927669_52016450 | 51964108 | AAC | A | intron_variant | MODIFIER | HG01256.hp1 HG01361.hp2 HG01891.hp2 others(4): Show |
a0003a0005 | a0003c0003a0005c0006a0005c0012others(1): Show | a0003c0003t0005a0005c0006t0004a0005c0012t0001others(2): Show | a0003c0003t0005g0018a0005c0006t0004g0121a0005c0006t0004g0154others(3): Show | 7 | 302 | 0.0232 | -2 | c.186 others(19): Show |
ATP7B | ENSG00000123191.17 | transcript | ENST00000242839.10 | protein_coding | 5/20 | chr13 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42405827 | CTG | C | downstream_gene_variant | MODIFIER | HG00639.hp2 HG00735.hp2 HG01081.hp1 others(27): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0008a0001c0001t0009a0001c0001t0011others(8): Show | a0001c0001t0008g0039a0001c0001t0008g0040a0001c0001t0008g0064others(27): Show | 30 | 310 | 0.0968 | -2 | c.*70 others(13): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 2545 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42417336 | CAA | C | intron_variant | MODIFIER | HG02622.hp1 HG02895.hp2 HG02970.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0027 | a0001c0001t0012g0289a0001c0001t0012g0290a0001c0001t0012g0302others(3): Show | 6 | 310 | 0.0194 | -2 | c.330 others(21): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 35/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42433284 | TTC | T | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00423.hp2 others(139): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0027a0001c0001t0002g0014a0001c0001t0002g0015others(139): Show | 142 | 310 | 0.4581 | -2 | c.312 others(21): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 33/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42440335 | GTT | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(98): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0046a0001c0001t0001g0047a0001c0001t0001g0048others(98): Show | 101 | 310 | 0.3258 | -2 | c.312 others(21): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 33/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42448828 | GTT | G | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00558.hp1 others(54): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0003c0006others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(6): Show | a0001c0001t0001g0046a0001c0001t0001g0047a0001c0001t0001g0048others(54): Show | 57 | 310 | 0.1839 | -2 | c.289 others(21): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 30/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42460379 | CTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00558.hp1 others(91): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(25): Show | a0001c0001t0001g0046a0001c0001t0001g0047a0001c0001t0001g0048others(91): Show | 94 | 310 | 0.3032 | -2 | c.261 others(21): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 27/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42461246 | TTC | T | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG01070.hp1 others(41): Show |
a0001a0005 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0004others(18): Show | a0001c0002t0002g0029a0001c0002t0002g0163a0001c0002t0003g0188others(41): Show | 44 | 310 | 0.1419 | -2 | c.261 others(21): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 27/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42468430 | TAC | T | intron_variant | MODIFIER | HG00639.hp1 HG01255.hp1 HG01261.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0007a0001c0001t0025a0001c0002t0002others(2): Show | a0001c0001t0007g0118a0001c0001t0007g0119a0001c0001t0007g0122others(5): Show | 8 | 310 | 0.0258 | -2 | c.232 others(21): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 25/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42472747 | CAA | C | intron_variant | MODIFIER | HG02071.hp1 HG02074.hp2 NA18952.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0002g0044a0001c0001t0002g0049a0001c0001t0002g0051others(16): Show | 19 | 310 | 0.0613 | -2 | c.232 others(21): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 25/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42479996 | TTG | T | intron_variant | MODIFIER | HG02809.hp2 HG02886.hp2 HG03471.hp2 |
a0001 | a0001c0002 | a0001c0002t0008a0001c0002t0020 | a0001c0002t0008g0166a0001c0002t0008g0167a0001c0002t0020g0111 | 3 | 310 | 0.0097 | -2 | c.232 others(21): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 25/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42495625 | TTG | T | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG00735.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(4): Show | a0001c0001t0002g0174a0001c0001t0002g0175a0001c0001t0003g0215others(16): Show | 19 | 310 | 0.0613 | -2 | c.215 others(21): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 24/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42507729 | CAA | C | intron_variant | MODIFIER | HG01099.hp2 HG02257.hp1 HG02818.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0005a0002c0007 | a0001c0001t0004a0002c0005t0004a0002c0005t0031others(1): Show | a0001c0001t0004g0031a0002c0005t0004g0037a0002c0005t0004g0041others(3): Show | 6 | 310 | 0.0194 | -2 | c.194 others(19): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 22/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42507780 | TAA | T | intron_variant | MODIFIER | HG01069.hp2 HG01109.hp2 HG01167.hp1 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(7): Show | a0001c0001t0001g0177a0001c0001t0001g0178a0001c0001t0004g0043others(19): Show | 22 | 310 | 0.0710 | -2 | c.194 others(19): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 22/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42509849 | CAA | C | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG01070.hp1 others(44): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(18): Show | a0001c0001t0002g0181a0001c0001t0002g0182a0001c0001t0002g0183others(44): Show | 47 | 310 | 0.1516 | -2 | c.194 others(21): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 22/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42517291 | CAA | C | intron_variant | MODIFIER | HG01099.hp2 HG01167.hp1 HG01255.hp2 others(22): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005others(1): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0015others(7): Show | a0001c0001t0004g0025a0001c0001t0004g0031a0001c0001t0004g0043others(22): Show | 25 | 310 | 0.0807 | -2 | c.194 others(21): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 22/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42522989 | AAG | A | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG00735.hp2 others(15): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(5): Show | a0001c0001t0002g0174a0001c0001t0002g0175a0001c0001t0003g0215others(15): Show | 18 | 310 | 0.0581 | -2 | c.180 others(19): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 21/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42546463 | GGA | G | intron_variant | MODIFIER | HG02451.hp2 HG02647.hp2 HG03130.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0009a0001c0002t0002a0001c0002t0003others(2): Show | a0001c0001t0009g0223a0001c0002t0002g0029a0001c0002t0003g0188others(2): Show | 5 | 310 | 0.0161 | -2 | c.165 others(21): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 19/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42546581 | TAA | T | intron_variant | MODIFIER | HG01099.hp2 HG02257.hp1 HG02280.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0004a0001c0001t0009a0001c0002t0002others(9): Show | a0001c0001t0004g0031a0001c0001t0009g0223a0001c0002t0002g0029others(12): Show | 15 | 310 | 0.0484 | -2 | c.165 others(21): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 19/36 | chr4 | TogoVar |