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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | a0001c0001t0004g0047 a0001c0001t0006g0069 a0001c0001t0006g0070 others(2): Show |
5 | 232 | 0.0216 | -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 | 295 | 0.0034 | -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 | 143 | 0.0070 | -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 |
a0001a0002a0010 | a0001c0001a0001c0005a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0024 others(78): Show |
81 | 207 | 0.3913 | -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(15): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0019a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(11): Show | a0001c0001t0001g0131 a0001c0001t0004g0047 a0001c0001t0004g0128 others(15): Show |
18 | 86 | 0.2093 | -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 | 306 | 0.0033 | -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 | 208 | 0.0048 | -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 |
a0001a0011 | a0001c0001a0011c0010 | a0001c0001t0001a0001c0001t0041a0011c0010t0033 | a0001c0001t0001g0121 a0001c0001t0041g0192 a0011c0010t0033g0080 |
3 | 5 | 0.6000 | -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 | a0001c0001t0001g0058 a0001c0003t0002g0004 a0001c0004t0004g0012 others(3): Show |
11 | 107 | 0.1028 | -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 | a0001c0001t0001g0067 a0001c0001t0001g0091 |
2 | 134 | 0.0149 | -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 | a0014 | a0014c0054 | a0014c0054t0007 | a0014c0054t0007g0026 | 1 | 388 | 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 | a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0033 others(117): Show |
122 | 387 | 0.3152 | -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 | a0001c0004t0003g0126 a0001c0006t0002g0049 a0001c0008t0003g0169 others(39): Show |
42 | 80 | 0.5250 | -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 |
a0001a0002a0003others(11): Show | a0001c0006a0001c0062a0002c0007others(21): Show | a0001c0006t0004a0001c0062t0002a0002c0007t0004others(27): Show | a0001c0006t0004g0372 a0001c0062t0002g0111 a0002c0007t0004g0271 others(110): Show |
117 | 231 | 0.5065 | -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 | 251 | 0.0040 | -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(43): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0003a0001c0001t0010a0001c0001t0015others(18): Show | a0001c0001t0003g0103 a0001c0001t0003g0106 a0001c0001t0003g0118 others(43): Show |
46 | 252 | 0.1825 | -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 | a0001c0001t0015g0006 | 1 | 38 | 0.0263 | -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 | a0001c0001t0002g0056 | 1 | 252 | 0.0040 | -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 | a0003c0003t0002g0041 | 1 | 252 | 0.0040 | -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 | a0003c0003t0002g0041 | 1 | 118 | 0.0085 | -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 | a0002c0002t0001g0150 a0002c0002t0002g0069 a0005c0005t0001g0092 others(1): Show |
4 | 190 | 0.0211 | -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 | a0001c0001t0001g0179 a0003c0003t0001g0125 |
2 | 241 | 0.0083 | -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 | a0016c0017t0001g0093 | 1 | 244 | 0.0041 | -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 | a0002c0002t0006g0102 | 1 | 232 | 0.0043 | -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 | a0001c0001t0016g0067 | 1 | 220 | 0.0045 | -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 | a0003c0003t0001g0184 a0005c0005t0001g0092 a0006c0006t0004g0042 others(1): Show |
4 | 138 | 0.0290 | -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 |
a0001a0002a0014 | a0001c0001a0002c0002a0014c0013 | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(1): Show | a0001c0001t0001g0172 a0001c0001t0003g0170 a0001c0001t0003g0236 others(2): Show |
5 | 12 | 0.4167 | -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 | a0001c0001t0022a0001c0003t0008a0001c0003t0012others(2): Show | a0001c0001t0022g0045 a0001c0003t0008g0235 a0001c0003t0012g0084 others(4): Show |
7 | 310 | 0.0226 | -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 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0003g0169 a0001c0001t0005g0300 a0001c0001t0006g0003 others(4): Show |
7 | 141 | 0.0496 | -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 | a0001c0002t0053a0001c0003t0014 | a0001c0002t0053g0092 a0001c0003t0014g0153 |
2 | 166 | 0.0120 | -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 | a0001c0001t0001g0015 a0001c0001t0001g0036 a0001c0001t0001g0037 others(31): Show |
34 | 130 | 0.2615 | -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 | a0001c0003t0007a0001c0004t0044 | a0001c0003t0007g0223 a0001c0004t0044g0184 |
2 | 223 | 0.0090 | -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 | a0001c0001t0001g0171 a0001c0001t0019g0265 a0001c0001t0019g0308 others(1): Show |
4 | 82 | 0.0488 | -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 | a0001c0001t0022a0001c0002t0053 | a0001c0001t0022g0045 a0001c0002t0053g0092 |
2 | 127 | 0.0157 | -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 | a0001c0001t0071 | a0001c0001t0071g0142 | 1 | 93 | 0.0108 | -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 | a0001c0004t0038 | a0001c0004t0038g0185 | 1 | 283 | 0.0035 | -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 | a0001c0001t0063 | a0001c0001t0063g0120 | 1 | 310 | 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 | 295 | 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 | a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0162 others(1): Show |
4 | 296 | 0.0135 | -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 | a0016 | a0016c0027 | a0016c0027t0003 | a0016c0027t0003g0139 | 1 | 96 | 0.0104 | -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 | a0001c0004t0002g0091 a0001c0004t0002g0092 a0001c0004t0002g0093 |
3 | 117 | 0.0256 | -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 | a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 others(8): Show |
11 | 326 | 0.0337 | -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 | a0001c0004t0002g0008 a0001c0004t0002g0190 a0001c0004t0013g0188 others(1): Show |
6 | 236 | 0.0254 | -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(53): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0003a0001c0002t0004a0001c0003t0002others(6): Show | a0001c0002t0003g0162 a0001c0002t0003g0164 a0001c0002t0004g0160 others(34): Show |
56 | 356 | 0.1573 | -12 | c.-62 others(19): Show |
ATPSCKMT | ENSG00000150756.14 | transcript | ENST00000511437.6 | protein_coding | 36 | chr5 | TogoVar | |||||||
ATRAID_chr2_27207041_27222157 | 27222052 | TGTCACAA others(5): Show |
T | downstream_gene_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 300 | 0.0033 | -12 | c.*51 others(23): Show |
ATRAID | ENSG00000138085.18 | transcript | ENST00000380171.9 | protein_coding | 4896 | chr2 | TogoVar | |||||||
ATRNL1_chr10_115088365_115953999 | 115098453 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG01258.hp1 HG01515.hp2 HG01943.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0029others(4): Show | a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0082 others(7): Show |
10 | 27 | 0.3704 | -12 | c.293 others(29): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115230870 | TGAGAGAG others(5): Show |
T | intron_variant | MODIFIER | HG01081.hp2 HG01361.hp2 HG03834.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0015 | a0001c0001t0001g0094 a0001c0001t0001g0104 a0001c0001t0003g0097 others(1): Show |
4 | 31 | 0.1290 | -12 | c.153 others(33): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 9/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115230911 | GAGAGAGA others(5): Show |
G | intron_variant | MODIFIER | HG02897.hp1 | a0002 | a0002c0004 | a0002c0004t0012 | a0002c0004t0012g0026 | 1 | 123 | 0.0081 | -12 | c.153 others(33): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 9/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115271165 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG01071.hp2 HG02723.hp1 |
a0002 | a0002c0008a0002c0014 | a0002c0008t0011a0002c0014t0009 | a0002c0008t0011g0072 a0002c0014t0009g0071 |
2 | 46 | 0.0435 | -12 | c.210 others(31): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115389540 | GTATATAT others(5): Show |
G | intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0073 | 1 | 36 | 0.0278 | -12 | c.317 others(31): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 19/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |