view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP6V1B1_chr2_70930900_70970431 | 70934074 | A | ATAT | upstream_gene_variant | MODIFIER | HG02257.hp2 HG02922.hp2 HG02970.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0349 a0001c0001t0006g0350 a0001c0001t0006g0351 others(1): Show |
4 | 435 | 0.0092 | 3 | c.-18 others(14): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 1825 | chr2 | TogoVar | |||||||
ATP6V1B1_chr2_70930900_70970431 | 70950932 | A | ATTT | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00609.hp2 others(62): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(15): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(15): Show | a0001c0001t0001g0027 a0001c0001t0001g0048 a0001c0001t0001g0052 others(51): Show |
65 | 232 | 0.2802 | 3 | c.175 others(20): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATP6V1B2_chr8_20192381_20226696 | 20196736 | A | AAAG | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(77): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0018 others(43): Show |
80 | 393 | 0.2036 | 3 | c.-67 others(12): Show |
ATP6V1B2 | ENSG00000147416.11 | transcript | ENST00000276390.7 | protein_coding | 644 | chr8 | TogoVar | |||||||
ATP6V1B2_chr8_20192381_20226696 | 20216300 | A | ATGT | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01099.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0050 a0001c0001t0001g0057 |
9 | 400 | 0.0225 | 3 | c.107 others(20): Show |
ATP6V1B2 | ENSG00000147416.11 | transcript | ENST00000276390.7 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ATP6V1C1_chr8_103016083_103078051 | 103047464 | A | ACAT | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG02523.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0016 | a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0143 others(3): Show |
8 | 255 | 0.0314 | 3 | c.201 others(20): Show |
ATP6V1C1 | ENSG00000155097.12 | transcript | ENST00000518738.2 | protein_coding | 3/12 | chr8 | TogoVar | |||||||
ATP6V1C2_chr2_10716630_10790110 | 10767159 | C | CTTT | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00544.hp2 others(77): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(2): Show | a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0024 others(75): Show |
80 | 105 | 0.7619 | 3 | c.379 others(20): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATP6V1C2_chr2_10716630_10790110 | 10782829 | C | CAAA | intron_variant | MODIFIER | HG01070.hp2 HG01978.hp1 HG02809.hp1 others(7): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0017 | a0001c0001t0001a0001c0001t0006a0002c0002t0001others(3): Show | a0001c0001t0001g0024 a0001c0001t0001g0173 a0001c0001t0001g0219 others(7): Show |
10 | 47 | 0.2128 | 3 | c.119 others(20): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATP6V1D_chr14_67332872_67364804 | 67340032 | C | CAAA | intron_variant | MODIFIER | HG00673.hp2 HG02027.hp1 HG02071.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 others(8): Show |
12 | 193 | 0.0622 | 3 | c.602 others(18): Show |
ATP6V1D | ENSG00000100554.12 | transcript | ENST00000216442.12 | protein_coding | 8/8 | chr14 | TogoVar | |||||||
ATP6V1D_chr14_67332872_67364804 | 67353479 | T | TTTG | intron_variant | MODIFIER | HG00609.hp2 HG00673.hp2 HG01175.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0040 a0001c0001t0001g0156 a0001c0001t0001g0157 others(11): Show |
20 | 346 | 0.0578 | 3 | c.42- others(16): Show |
ATP6V1D | ENSG00000100554.12 | transcript | ENST00000216442.12 | protein_coding | 1/8 | chr14 | TogoVar | |||||||
ATP6V1E1_chr22_17587136_17633749 | 17589567 | A | ACTT | downstream_gene_variant | MODIFIER | HG00738.hp2 HG01074.hp1 HG01081.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008 | a0001c0001t0004g0010 a0001c0001t0004g0193 a0001c0001t0004g0207 others(20): Show |
27 | 368 | 0.0734 | 3 | c.*31 others(14): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2568 | chr22 | TogoVar | |||||||
ATP6V1E1_chr22_17587136_17633749 | 17605205 | C | CAAA | intron_variant | MODIFIER | HG01071.hp2 HG01433.hp1 HG01978.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0191 a0001c0001t0002g0028 a0001c0001t0002g0262 others(5): Show |
9 | 258 | 0.0349 | 3 | c.277 others(20): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 4/8 | chr22 | TogoVar | |||||||
ATP6V1E1_chr22_17587136_17633749 | 17605693 | C | CTTT | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02559.hp1 others(16): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0002t0009others(1): Show | a0001c0001t0001g0087 a0001c0001t0001g0130 a0001c0001t0001g0168 others(14): Show |
19 | 173 | 0.1098 | 3 | c.277 others(20): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 4/8 | chr22 | TogoVar | |||||||
ATP6V1E1_chr22_17587136_17633749 | 17626325 | A | AAAG | intron_variant | MODIFIER | HG02109.hp1 HG02258.hp2 HG02280.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0046 a0001c0001t0001g0168 a0001c0001t0001g0169 others(8): Show |
11 | 203 | 0.0542 | 3 | c.33+ others(18): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 1/8 | chr22 | TogoVar | |||||||
ATP6V1E2_chr2_46506847_46547577 | 46529771 | G | GATA | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp2 HG00639.hp1 others(70): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0025 others(57): Show |
73 | 408 | 0.1789 | 3 | c.-10 others(22): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 4/4 | chr2 | TogoVar | |||||||
ATP6V1E2_chr2_46506847_46547577 | 46529774 | G | GATA | intron_variant | MODIFIER | HG02886.hp1 HG02976.hp2 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0002g0268 |
3 | 331 | 0.0091 | 3 | c.-10 others(22): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 4/4 | chr2 | TogoVar | |||||||
ATP6V1E2_chr2_46506847_46547577 | 46540436 | C | CAAA | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(244): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(151): Show |
247 | 287 | 0.8606 | 3 | c.-31 others(20): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 2/4 | chr2 | TogoVar | |||||||
ATP6V1FNB_chr7_128861330_128877047 | 128861823 | A | ATTT | upstream_gene_variant | MODIFIER | HG01433.hp1 HG01891.hp2 HG01943.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0002g0002 a0001c0001t0003g0003 a0001c0001t0003g0005 others(5): Show |
21 | 182 | 0.1154 | 3 | c.-45 others(14): Show |
ATP6V1FNB | ENSG00000272899.4 | transcript | ENST00000609480.4 | protein_coding | 4506 | chr7 | TogoVar | |||||||
ATP6V1F_chr7_128857856_128870847 | 128861823 | A | ATTT | upstream_gene_variant | MODIFIER | HG01433.hp2 HG01891.hp2 HG01943.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0022 others(4): Show |
22 | 178 | 0.1236 | 3 | c.-10 others(14): Show |
ATP6V1F | ENSG00000128524.5 | transcript | ENST00000249289.5 | protein_coding | 1032 | chr7 | TogoVar | |||||||
ATP6V1G1_chr9_114582769_114603879 | 114598990 | G | GTTT | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00673.hp2 HG00735.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0010 others(8): Show |
16 | 96 | 0.1667 | 3 | c.*12 others(14): Show |
ATP6V1G1 | ENSG00000136888.8 | transcript | ENST00000374050.4 | protein_coding | 112 | chr9 | TogoVar | |||||||
ATP6V1G1_chr9_114582769_114603879 | 114599522 | C | CTTT | downstream_gene_variant | MODIFIER | HG00323.hp2 HG01074.hp2 HG02132.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0099 a0001c0001t0002g0031 others(8): Show |
12 | 96 | 0.1250 | 3 | c.*17 others(14): Show |
ATP6V1G1 | ENSG00000136888.8 | transcript | ENST00000374050.4 | protein_coding | 644 | chr9 | TogoVar | |||||||
ATP6V1H_chr8_53710543_53848245 | 53718384 | A | ATTT | intron_variant | MODIFIER | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(75): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0024 a0001c0001t0001g0242 a0001c0001t0001g0243 others(73): Show |
78 | 211 | 0.3697 | 3 | c.139 others(22): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | TogoVar | |||||||
ATP6V1H_chr8_53710543_53848245 | 53751116 | T | TACC | intron_variant | MODIFIER | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(68): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0003c0004t0002 | a0001c0001t0001g0066 a0001c0001t0002g0002 a0001c0001t0002g0007 others(67): Show |
71 | 284 | 0.2500 | 3 | c.127 others(22): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | TogoVar | |||||||
ATP6V1H_chr8_53710543_53848245 | 53762262 | T | TAAA | intron_variant | MODIFIER | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(72): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0002a0003c0004t0002 | a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0013 others(71): Show |
75 | 272 | 0.2757 | 3 | c.117 others(22): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | TogoVar | |||||||
ATP6V1H_chr8_53710543_53848245 | 53803353 | C | CAGA | intron_variant | MODIFIER | HG02886.hp1 HG03209.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0259 |
3 | 282 | 0.0106 | 3 | c.580 others(20): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | TogoVar | |||||||
ATP7A_chrX_77905693_78055395 | 77925918 | C | CTTT | intron_variant | MODIFIER | HG01109.hp1 HG02015.hp1 HG02280.hp2 others(6): Show |
a0001a0007 | a0001c0001a0001c0011a0007c0007 | a0001c0001t0001a0001c0001t0005a0001c0011t0005others(1): Show | a0001c0001t0001g0139 a0001c0001t0005g0136 a0001c0001t0005g0137 others(6): Show |
9 | 89 | 0.1011 | 3 | c.-22 others(22): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ATP7A_chrX_77905693_78055395 | 77987444 | T | TGTG | intron_variant | MODIFIER | HG00733.hp1 HG01081.hp1 NA18987.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0170 a0001c0001t0001g0177 a0001c0001t0004g0169 |
3 | 64 | 0.0469 | 3 | c.121 others(18): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | chrX | TogoVar | |||||||
ATP7A_chrX_77905693_78055395 | 78042116 | C | CAAA | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(68): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0003others(1): Show | a0001c0001t0003a0002c0002t0002a0002c0002t0003others(8): Show | a0001c0001t0003g0016 a0001c0001t0003g0017 a0002c0002t0002g0033 others(68): Show |
71 | 180 | 0.3944 | 3 | c.380 others(20): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ATP7A_chrX_77905693_78055395 | 78044255 | C | CAAA | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(77): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0003others(1): Show | a0001c0001t0003a0002c0002t0002a0002c0002t0003others(8): Show | a0001c0001t0003g0016 a0001c0001t0003g0017 a0002c0002t0002g0033 others(76): Show |
80 | 92 | 0.8696 | 3 | c.412 others(20): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ATP7B_chr13_51927669_52016450 | 51953851 | T | TAAA | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00733.hp1 others(12): Show |
a0003a0014 | a0003c0003a0014c0024 | a0003c0003t0004a0003c0003t0016a0003c0003t0021others(1): Show | a0003c0003t0004g0037 a0003c0003t0004g0125 a0003c0003t0004g0130 others(12): Show |
15 | 150 | 0.1000 | 3 | c.244 others(22): Show |
ATP7B | ENSG00000123191.17 | transcript | ENST00000242839.10 | protein_coding | 9/20 | chr13 | TogoVar | |||||||
ATP7B_chr13_51927669_52016450 | 51982005 | A | ATTT | intron_variant | MODIFIER | HG00544.hp2 HG01099.hp1 HG02922.hp2 others(8): Show |
a0003a0008 | a0003c0005a0008c0008 | a0003c0005t0004a0003c0005t0010a0003c0005t0012others(2): Show | a0003c0005t0004g0022 a0003c0005t0004g0023 a0003c0005t0004g0024 others(8): Show |
11 | 185 | 0.0595 | 3 | c.52- others(18): Show |
ATP7B | ENSG00000123191.17 | transcript | ENST00000242839.10 | protein_coding | 1/20 | chr13 | TogoVar | |||||||
ATP7B_chr13_51927669_52016450 | 51992979 | C | CAAA | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG01358.hp1 others(18): Show |
a0001a0002a0003others(4): Show | a0001c0025a0002c0002a0003c0003others(6): Show | a0001c0025t0003a0002c0002t0002a0002c0002t0007others(7): Show | a0001c0025t0003g0147 a0002c0002t0002g0063 a0002c0002t0002g0064 others(18): Show |
21 | 156 | 0.1346 | 3 | c.52- others(20): Show |
ATP7B | ENSG00000123191.17 | transcript | ENST00000242839.10 | protein_coding | 1/20 | chr13 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42439066 | T | TTAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(300): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(62): Show | a0001c0001t0001g0020 a0001c0001t0001g0046 a0001c0001t0001g0047 others(300): Show |
303 | 308 | 0.9838 | 3 | c.312 others(22): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 33/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42446080 | C | CAAA | intron_variant | MODIFIER | HG00423.hp2 HG02145.hp2 HG02451.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0006a0001c0002t0002a0001c0002t0003others(6): Show | a0001c0001t0006g0210 a0001c0001t0006g0252 a0001c0002t0002g0022 others(10): Show |
13 | 27 | 0.4815 | 3 | c.295 others(20): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 31/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42494162 | C | CAAA | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG00735.hp2 others(30): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0050 a0001c0001t0001g0070 a0001c0001t0001g0071 others(30): Show |
33 | 59 | 0.5593 | 3 | c.215 others(22): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 24/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42507729 | C | CAAA | intron_variant | MODIFIER | HG01069.hp2 HG01106.hp2 HG01109.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(10): Show | a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0074 others(23): Show |
26 | 76 | 0.3421 | 3 | c.194 others(20): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 22/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42507780 | T | TAAA | intron_variant | MODIFIER | HG00738.hp1 HG01074.hp1 HG01123.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(9): Show | a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0135 others(15): Show |
18 | 151 | 0.1192 | 3 | c.194 others(20): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 22/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42555139 | A | ATCT | intron_variant | MODIFIER | HG01169.hp1 HG01361.hp1 HG01928.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0048 a0001c0001t0001g0133 a0001c0001t0002g0101 others(6): Show |
9 | 177 | 0.0508 | 3 | c.141 others(20): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 16/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42555210 | G | GCCC | intron_variant | MODIFIER | HG01106.hp2 HG02155.hp2 HG02717.hp1 others(12): Show |
a0001 | a0001c0002a0001c0003a0001c0004 | a0001c0002t0005a0001c0003t0002a0001c0003t0005others(4): Show | a0001c0002t0005g0189 a0001c0003t0002g0167 a0001c0003t0002g0168 others(12): Show |
15 | 298 | 0.0503 | 3 | c.141 others(20): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 16/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42576475 | C | CAAA | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01071.hp2 others(9): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0020 a0001c0001t0002g0014 a0001c0001t0003g0206 others(9): Show |
12 | 73 | 0.1644 | 3 | c.112 others(20): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 12/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42583181 | T | TCTA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(294): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(59): Show | a0001c0001t0001g0020 a0001c0001t0001g0046 a0001c0001t0001g0047 others(294): Show |
297 | 308 | 0.9643 | 3 | c.723 others(20): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 9/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42601033 | C | CTTT | intron_variant | MODIFIER | HG01358.hp2 HG01952.hp1 HG02559.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(8): Show | a0001c0001t0001g0058 a0001c0001t0009g0275 a0001c0001t0010g0289 others(10): Show |
13 | 79 | 0.1646 | 3 | c.410 others(18): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 5/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42612106 | T | TAAA | intron_variant | MODIFIER | HG00280.hp1 HG00733.hp1 HG01069.hp1 others(43): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0004c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0020 a0001c0001t0001g0055 a0001c0001t0002g0015 others(43): Show |
46 | 308 | 0.1494 | 3 | c.409 others(20): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 5/36 | chr4 | TogoVar | |||||||
ATP8A2_chr13_25366974_26030851 | 25385916 | A | ATTT | intron_variant | MODIFIER | HG02886.hp2 HG02896.hp2 NA19030.hp1 others(1): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0008a0001c0001t0064a0001c0008t0013others(1): Show | a0001c0001t0008g0073 a0001c0001t0064g0072 a0001c0008t0013g0074 others(1): Show |
4 | 105 | 0.0381 | 3 | c.76+ others(20): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25408080 | A | ATAT | intron_variant | MODIFIER | HG02630.hp1 HG02723.hp2 HG03098.hp1 others(1): Show |
a0001 | a0001c0001a0001c0007a0001c0017 | a0001c0001t0009a0001c0001t0074a0001c0007t0007others(1): Show | a0001c0001t0009g0065 a0001c0001t0074g0116 a0001c0007t0007g0094 others(1): Show |
4 | 58 | 0.0690 | 3 | c.76+ others(20): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | chr13 | TogoVar | |||||||
ATP8A2_chr13_25366974_26030851 | 25461843 | G | GAGA | intron_variant | MODIFIER | HG01109.hp1 HG02622.hp1 HG02723.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0064a0001c0002t0001a0001c0002t0003others(3): Show | a0001c0001t0064g0072 a0001c0002t0001g0035 a0001c0002t0003g0087 others(4): Show |
7 | 117 | 0.0598 | 3 | c.77- others(18): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25461852 | A | AAGG | intron_variant | MODIFIER | HG00738.hp2 HG01069.hp1 HG01071.hp1 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0008a0001c0001t0010a0001c0001t0013others(24): Show | a0001c0001t0008g0073 a0001c0001t0010g0100 a0001c0001t0013g0006 others(26): Show |
29 | 80 | 0.3625 | 3 | c.77- others(18): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25463124 | G | GTTT | intron_variant | MODIFIER | HG01070.hp1 HG01070.hp2 HG01071.hp2 others(29): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0011others(25): Show | a0001c0001t0002g0079 a0001c0001t0004g0046 a0001c0001t0011g0062 others(29): Show |
32 | 82 | 0.3902 | 3 | c.77- others(18): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25464446 | T | TAAA | intron_variant | MODIFIER | HG00642.hp1 HG00741.hp1 HG01243.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0011others(12): Show | a0001c0001t0001g0036 a0001c0001t0009g0065 a0001c0001t0011g0061 others(12): Show |
15 | 24 | 0.6250 | 3 | c.77- others(18): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25494457 | A | ATGC | intron_variant | MODIFIER | NA18952.hp1 NA18952.hp2 |
a0001 | a0001c0003 | a0001c0003t0007a0001c0003t0027 | a0001c0003t0007g0109 a0001c0003t0027g0047 |
2 | 120 | 0.0167 | 3 | c.221 others(22): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25504746 | C | CAAA | intron_variant | MODIFIER | HG00738.hp1 HG00738.hp2 HG01070.hp2 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0008others(25): Show | a0001c0001t0004g0040 a0001c0001t0004g0046 a0001c0001t0005g0102 others(27): Show |
30 | 70 | 0.4286 | 3 | c.222 others(22): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |