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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP8A2_chr13_25366974_26030851 | 25882894 | AGATGATG others(5): Show |
A | intron_variant | MODIFIER | HG02622.hp1 HG02895.hp2 HG03130.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0008a0001c0001t0025a0001c0002t0006others(3): Show | a0001c0001t0008g0073a0001c0001t0025g0009a0001c0002t0006g0119others(3): Show | 6 | 122 | 0.0492 | -12 | c.318 others(33): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 26002848 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG01261.hp2 HG02280.hp1 HG02559.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0017a0001c0001t0040a0001c0003t0061others(4): Show | a0001c0001t0017g0051a0001c0001t0040g0038a0001c0003t0061g0055others(4): Show | 7 | 122 | 0.0574 | -12 | c.337 others(31): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 35/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8B1_chr18_57641426_57808315 | 57653282 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02080.hp1 NA18939.hp1 NA18939.hp2 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0014a0002c0002t0019a0002c0002t0037 | a0002c0002t0014g0207a0002c0002t0014g0229a0002c0002t0014g0237others(7): Show | 10 | 314 | 0.0319 | -12 | c.301 others(29): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 24/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57672883 | AAAGTATA others(5): Show |
A | intron_variant | MODIFIER | HG00738.hp2 | a0012 | a0012c0020 | a0012c0020t0012 | a0012c0020t0012g0173 | 1 | 314 | 0.0032 | -12 | c.182 others(31): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 16/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57672886 | GTATATAT others(5): Show |
G | intron_variant | MODIFIER | HG00558.hp2 HG01884.hp1 HG03486.hp2 others(5): Show |
a0001a0007 | a0001c0001a0001c0018a0007c0011 | a0001c0001t0002a0001c0001t0007a0001c0001t0039others(3): Show | a0001c0001t0002g0298a0001c0001t0007g0206a0001c0001t0007g0219others(5): Show | 8 | 314 | 0.0255 | -12 | c.182 others(31): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 16/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57672921 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 314 | 0.0032 | -12 | c.182 others(31): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 16/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57713188 | TTTCTTTC others(5): Show |
T | intron_variant | MODIFIER | HG00733.hp2 HG01123.hp1 HG01516.hp2 others(2): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0004a0001c0001t0006a0001c0001t0015others(1): Show | a0001c0001t0004g0047a0001c0001t0006g0069a0001c0001t0006g0070others(2): Show | 5 | 314 | 0.0159 | -12 | c.182 others(29): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 2/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57713232 | CTTCCTTC others(5): Show |
C | intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0042 | 1 | 314 | 0.0032 | -12 | c.182 others(29): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 2/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57731308 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0192 | 1 | 314 | 0.0032 | -12 | c.181 others(27): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 2/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57732331 | GTGTGTAT others(5): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00558.hp2 others(78): Show |
a0001a0002a0008 | a0001c0001a0001c0005a0001c0016others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0010a0001c0001t0001g0018a0001c0001t0001g0024others(78): Show | 81 | 314 | 0.2580 | -12 | c.-25 others(27): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57759155 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(16): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0019a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(12): Show | a0001c0001t0001g0131a0001c0001t0004g0047a0001c0001t0004g0128others(16): Show | 19 | 314 | 0.0605 | -12 | c.-25 others(31): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57764263 | TTTCCTTC others(5): Show |
T | intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0286 | 1 | 314 | 0.0032 | -12 | c.-25 others(31): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57764339 | CTTTTTCT others(5): Show |
C | intron_variant | MODIFIER | NA19062.hp1 | a0002 | a0002c0002 | a0002c0002t0014 | a0002c0002t0014g0207 | 1 | 314 | 0.0032 | -12 | c.-25 others(31): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57782803 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG03130.hp1 NA20300.hp1 |
a0001a0006 | a0001c0001a0006c0009 | a0001c0001t0001a0001c0001t0041a0006c0009t0033 | a0001c0001t0001g0121a0001c0001t0041g0192a0006c0009t0033g0080 | 3 | 314 | 0.0096 | -12 | c.-26 others(31): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | ||||||
ATP8B2_chr1_154320525_154356304 | 154355219 | AACACACA others(5): Show |
A | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01192.hp1 HG01433.hp1 others(8): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0003t0002a0001c0004t0004others(1): Show | a0001c0001t0001g0061a0001c0003t0002g0004a0001c0004t0004g0012others(3): Show | 11 | 382 | 0.0288 | -12 | c.*61 others(23): Show |
ATP8B2 | ENSG00000143515.20 | transcript | ENST00000368489.6 | protein_coding | 3916 | chr1 | TogoVar | ||||||
ATP8B3_chr19_1777075_1817276 | 1778866 | TCACACAC others(5): Show |
T | downstream_gene_variant | MODIFIER | HG01261.hp2 HG03834.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062a0001c0001t0001g0085 | 2 | 390 | 0.0051 | -12 | c.*41 others(23): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 3208 | chr19 | TogoVar | ||||||
ATP8B3_chr19_1777075_1817276 | 1788132 | GTGATGGG others(5): Show |
G | intron_variant | MODIFIER | HG04204.hp1 | a0000 | a0000c0054 | a0000c0054t0007 | a0000c0054t0007g0022 | 1 | 390 | 0.0026 | -12 | c.306 others(29): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 24/28 | chr19 | TogoVar | ||||||
ATP8B3_chr19_1777075_1817276 | 1790397 | TCCCTCTC others(5): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(119): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0008others(18): Show | a0001c0001t0001a0001c0001t0006a0001c0004t0001others(25): Show | a0001c0001t0001g0001a0001c0001t0001g0014a0001c0001t0001g0030others(118): Show | 122 | 390 | 0.3128 | -12 | c.237 others(29): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 21/28 | chr19 | TogoVar | ||||||
ATP8B3_chr19_1777075_1817276 | 1795784 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00544.hp1 others(39): Show |
a0001a0002a0003others(2): Show | a0001c0004a0001c0006a0001c0008others(16): Show | a0001c0004t0003a0001c0006t0002a0001c0008t0003others(19): Show | a0001c0004t0003g0124a0001c0006t0002g0045a0001c0008t0003g0169others(39): Show | 42 | 390 | 0.1077 | -12 | c.205 others(27): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 18/28 | chr19 | TogoVar | ||||||
ATP8B3_chr19_1777075_1817276 | 1797468 | TTTTATTT others(5): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp2 others(114): Show |
a0000a0001a0002others(10): Show | a0000c0035a0000c0040a0001c0006others(21): Show | a0000c0035t0007a0000c0040t0008a0001c0006t0004others(27): Show | a0000c0035t0007g0165a0000c0035t0007g0166a0000c0040t0008g0265others(113): Show | 117 | 390 | 0.3000 | -12 | c.155 others(29): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 14/28 | chr19 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 49861444 | GTCTGTCT others(5): Show |
G | intron_variant | MODIFIER | HG02451.hp1 | a0009 | a0009c0009 | a0009c0009t0024 | a0009c0009t0024g0186 | 1 | 254 | 0.0039 | -12 | c.329 others(29): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 27/27 | chr15 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 49872780 | GGGATCCT others(5): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(44): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0003a0001c0001t0010a0001c0001t0015others(18): Show | a0001c0001t0003g0105a0001c0001t0003g0108a0001c0001t0003g0122others(44): Show | 47 | 254 | 0.1850 | -12 | c.302 others(31): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 25/27 | chr15 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 49978739 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0012 | 1 | 254 | 0.0039 | -12 | c.103 others(29): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 12/27 | chr15 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 49978775 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0055 | 1 | 254 | 0.0039 | -12 | c.103 others(29): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 12/27 | chr15 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 49995701 | TTCCCTAA others(5): Show |
T | intron_variant | MODIFIER | HG02027.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0047 | 1 | 254 | 0.0039 | -12 | c.589 others(27): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 9/27 | chr15 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50021118 | TGATAGAT others(5): Show |
T | intron_variant | MODIFIER | HG02027.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0047 | 1 | 254 | 0.0039 | -12 | c.363 others(31): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 6/27 | chr15 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50072921 | CCTCTCTC others(5): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG02451.hp1 HG02602.hp2 others(1): Show |
a0002a0005a0009 | a0002c0002a0005c0005a0009c0009 | a0002c0002t0001a0002c0002t0002a0005c0005t0001others(1): Show | a0002c0002t0001g0151a0002c0002t0002g0066a0005c0005t0001g0094others(1): Show | 4 | 254 | 0.0158 | -12 | c.87+ others(27): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50072970 | CTCTCTCT others(5): Show |
C | intron_variant | MODIFIER | HG01258.hp2 NA19043.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0180a0003c0003t0001g0125 | 2 | 254 | 0.0079 | -12 | c.87+ others(27): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50073011 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG03516.hp2 | a0016 | a0016c0017 | a0016c0017t0001 | a0016c0017t0001g0095 | 1 | 254 | 0.0039 | -12 | c.87+ others(27): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50073015 | TATATACA others(5): Show |
T | intron_variant | MODIFIER | HG00280.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0104 | 1 | 254 | 0.0039 | -12 | c.87+ others(27): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50073017 | TATACACA others(5): Show |
T | intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0031 | 1 | 254 | 0.0039 | -12 | c.87+ others(27): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50073019 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG03041.hp1 HG03195.hp1 others(1): Show |
a0003a0005a0006others(1): Show | a0003c0003a0005c0005a0006c0006others(1): Show | a0003c0003t0001a0005c0005t0001a0006c0006t0004others(1): Show | a0003c0003t0001g0185a0005c0005t0001g0094a0006c0006t0004g0048others(1): Show | 4 | 254 | 0.0158 | -12 | c.87+ others(27): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50098266 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG01515.hp1 HG02080.hp2 HG02451.hp2 others(2): Show |
a0001a0002a0012 | a0001c0001a0002c0002a0012c0013 | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(1): Show | a0001c0001t0001g0174a0001c0001t0003g0171a0001c0001t0003g0235others(2): Show | 5 | 254 | 0.0197 | -12 | c.28+ others(27): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | ||||||
ATP9A_chr20_51591514_51773390 | 51615096 | CGGGGCGG others(5): Show |
C | intron_variant | MODIFIER | HG01106.hp1 HG01884.hp2 HG02717.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0024a0001c0003t0008a0001c0003t0012others(2): Show | a0001c0001t0024g0045a0001c0003t0008g0236a0001c0003t0012g0085others(4): Show | 7 | 312 | 0.0224 | -12 | c.241 others(31): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 22/27 | chr20 | TogoVar | ||||||
ATP9A_chr20_51591514_51773390 | 51638069 | TTTTATAT others(5): Show |
T | intron_variant | MODIFIER | HG00738.hp1 NA18954.hp2 NA18970.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0003g0166a0001c0001t0004g0297a0001c0001t0006g0011others(4): Show | 7 | 312 | 0.0224 | -12 | c.166 others(31): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 15/27 | chr20 | TogoVar | ||||||
ATP9A_chr20_51591514_51773390 | 51638071 | TTATATAT others(5): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0056a0001c0003t0014 | a0001c0002t0056g0092a0001c0003t0014g0152 | 2 | 312 | 0.0064 | -12 | c.166 others(31): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 15/27 | chr20 | TogoVar | ||||||
ATP9A_chr20_51591514_51773390 | 51642725 | CCAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00735.hp1 HG01069.hp2 others(31): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0015a0001c0001t0001g0026a0001c0001t0001g0037others(31): Show | 34 | 312 | 0.1090 | -12 | c.150 others(31): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 14/27 | chr20 | TogoVar | ||||||
ATP9A_chr20_51591514_51773390 | 51642726 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01175.hp2 HG02257.hp2 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0007a0001c0004t0047 | a0001c0003t0007g0224a0001c0004t0047g0181 | 2 | 312 | 0.0064 | -12 | c.150 others(31): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 14/27 | chr20 | TogoVar | ||||||
ATP9A_chr20_51591514_51773390 | 51682577 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG01358.hp2 HG02293.hp1 HG02723.hp1 others(1): Show |
a0001 | a0001c0001a0001c0015 | a0001c0001t0001a0001c0001t0019a0001c0015t0015 | a0001c0001t0001g0168a0001c0001t0019g0248a0001c0001t0019g0308others(1): Show | 4 | 312 | 0.0128 | -12 | c.800 others(29): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 9/27 | chr20 | TogoVar | ||||||
ATP9A_chr20_51591514_51773390 | 51702365 | CGTGTGTG others(5): Show |
C | intron_variant | MODIFIER | HG01106.hp1 HG02055.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0024a0001c0002t0056 | a0001c0001t0024g0045a0001c0002t0056g0092 | 2 | 312 | 0.0064 | -12 | c.437 others(29): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 4/27 | chr20 | TogoVar | ||||||
ATP9A_chr20_51591514_51773390 | 51726889 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0074 | a0001c0001t0074g0141 | 1 | 312 | 0.0032 | -12 | c.214 others(27): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 2/27 | chr20 | TogoVar | ||||||
ATP9A_chr20_51591514_51773390 | 51748907 | TTAGATAG others(5): Show |
T | intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0004 | a0001c0004t0041 | a0001c0004t0041g0182 | 1 | 312 | 0.0032 | -12 | c.69- others(29): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 1/27 | chr20 | TogoVar | ||||||
ATP9A_chr20_51591514_51773390 | 51757555 | ACAGGGCC others(5): Show |
A | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0066 | a0001c0001t0066g0117 | 1 | 312 | 0.0032 | -12 | c.68+ others(29): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 1/27 | chr20 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79118382 | ACGTTTTT others(5): Show |
A | intron_variant | MODIFIER | NA20805.hp1 | a0004 | a0004c0036 | a0004c0036t0001 | a0004c0036t0001g0271 | 1 | 298 | 0.0034 | -12 | c.558 others(29): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 4/29 | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79220230 | GGAGGCTG others(5): Show |
G | intron_variant | MODIFIER | HG00733.hp1 HG00735.hp2 HG01123.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0158a0002c0002t0001g0159a0002c0002t0001g0162others(1): Show | 4 | 298 | 0.0134 | -12 | c.110 others(31): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 11/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79256257 | CTATATAT others(5): Show |
C | intron_variant | MODIFIER | NA19007.hp1 | a0015 | a0015c0027 | a0015c0027t0003 | a0015c0027t0003g0139 | 1 | 298 | 0.0034 | -12 | c.126 others(31): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 12/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79376172 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG01952.hp2 HG02630.hp2 HG02922.hp2 |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0095a0001c0004t0002g0096a0001c0004t0002g0097 | 3 | 298 | 0.0101 | -12 | c.330 others(29): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 29/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATPAF2_chr17_18013021_18044168 | 18017197 | AAAAAAAA others(5): Show |
A | downstream_gene_variant | MODIFIER | HG01934.hp1 HG02257.hp1 HG02647.hp1 others(8): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0005a0003c0004t0005 | a0001c0001t0001g0051a0001c0001t0001g0052a0001c0001t0001g0053others(8): Show | 11 | 328 | 0.0335 | -12 | c.*13 others(23): Show |
ATPAF2 | ENSG00000171953.16 | transcript | ENST00000474627.8 | protein_coding | 823 | chr17 | TogoVar | ||||||
ATPSCKMT_chr5_10220507_10254888 | 10249897 | TAAAAAAA others(5): Show |
T | upstream_gene_variant | MODIFIER | HG01074.hp1 HG01361.hp2 HG02559.hp1 others(3): Show |
a0001 | a0001c0004a0001c0006 | a0001c0004t0002a0001c0004t0013a0001c0006t0002 | a0001c0004t0002g0008a0001c0004t0002g0190a0001c0004t0013g0188others(1): Show | 6 | 358 | 0.0168 | -12 | c.-36 others(19): Show |
ATPSCKMT | ENSG00000150756.14 | transcript | ENST00000511437.6 | protein_coding | 10 | chr5 | TogoVar | ||||||
ATPSCKMT_chr5_10220507_10254888 | 10249923 | AAAAAAAA others(5): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp2 others(54): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0003a0001c0002t0004a0001c0003t0002others(6): Show | a0001c0002t0003g0165a0001c0002t0003g0167a0001c0002t0004g0163others(35): Show | 57 | 358 | 0.1592 | -12 | c.-62 others(19): Show |
ATPSCKMT | ENSG00000150756.14 | transcript | ENST00000511437.6 | protein_coding | 36 | chr5 | TogoVar |