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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP8B4_chr15_49853238_50124233 | 50086037 | A | ATTT | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00609.hp2 others(38): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(8): Show | a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0110 others(38): Show |
41 | 189 | 0.2169 | 3 | c.29- others(20): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50086215 | C | CATA | intron_variant | MODIFIER | HG01243.hp1 HG03209.hp1 HG04204.hp1 others(1): Show |
a0001a0005a0015 | a0001c0001a0005c0005a0015c0018 | a0001c0001t0001a0005c0005t0021a0015c0018t0004 | a0001c0001t0001g0087 a0001c0001t0001g0088 a0005c0005t0021g0033 others(1): Show |
4 | 147 | 0.0272 | 3 | c.29- others(20): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50086251 | C | CATA | intron_variant | MODIFIER | HG02897.hp2 NA18953.hp2 NA19065.hp2 |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0006 | a0001c0001t0002a0002c0002t0002a0006c0006t0006 | a0001c0001t0002g0030 a0002c0002t0002g0046 a0006c0006t0006g0111 |
3 | 158 | 0.0190 | 3 | c.29- others(20): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50086271 | A | ATTT | intron_variant | MODIFIER | HG00280.hp1 HG02004.hp2 HG03491.hp2 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0003a0002c0002t0006a0003c0003t0001 | a0001c0001t0003g0118 a0001c0001t0003g0119 a0002c0002t0006g0102 others(1): Show |
4 | 192 | 0.0208 | 3 | c.29- others(20): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50086287 | C | CATA | intron_variant | MODIFIER | HG00558.hp1 HG01074.hp2 HG02080.hp1 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0002a0002c0002t0001a0003c0003t0002 | a0001c0001t0002g0085 a0002c0002t0001g0229 a0003c0003t0002g0058 others(1): Show |
4 | 176 | 0.0227 | 3 | c.29- others(20): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50086307 | A | ATTT | intron_variant | MODIFIER | HG01081.hp2 HG01516.hp2 HG02083.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0008a0003c0003t0001 | a0001c0001t0001g0109 a0001c0001t0008g0120 a0003c0003t0001g0108 others(3): Show |
6 | 188 | 0.0319 | 3 | c.29- others(20): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50086429 | A | ATAT | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG00642.hp2 others(29): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0031others(10): Show | a0001c0001t0001g0143 a0001c0001t0001g0231 a0001c0001t0003g0245 others(29): Show |
32 | 245 | 0.1306 | 3 | c.29- others(20): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50086431 | A | ACTT | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp1 HG02004.hp2 others(5): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0003a0002c0002t0001a0002c0002t0006others(4): Show | a0001c0001t0003g0118 a0001c0001t0003g0119 a0002c0002t0001g0229 others(5): Show |
8 | 85 | 0.0941 | 3 | c.29- others(20): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50086431 | A | ATAT | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00438.hp1 others(66): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0002c0021others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(18): Show | a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0109 others(66): Show |
69 | 146 | 0.4726 | 3 | c.29- others(20): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50086431 | A | ATTT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(67): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0181 others(67): Show |
70 | 147 | 0.4762 | 3 | c.29- others(20): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50086514 | A | AAAT | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp1 HG02004.hp2 others(5): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0003a0002c0002t0001a0002c0002t0006others(4): Show | a0001c0001t0003g0118 a0001c0001t0003g0119 a0002c0002t0001g0229 others(5): Show |
8 | 179 | 0.0447 | 3 | c.29- others(20): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50086749 | T | TATA | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(155): Show |
a0001a0002a0003others(13): Show | a0001c0001a0002c0002a0002c0021others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(49): Show | a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0094 others(155): Show |
158 | 252 | 0.6270 | 3 | c.29- others(20): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50114103 | C | CTTT | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG01074.hp2 others(13): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0094 a0001c0001t0002g0030 a0001c0001t0002g0032 others(13): Show |
16 | 45 | 0.3556 | 3 | c.-43 others(20): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 1/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50119752 | C | CTTT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(30): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0026others(7): Show | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0219 others(30): Show |
33 | 112 | 0.2946 | 3 | c.-67 others(12): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 520 | chr15 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51619869 | C | CAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(73): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(23): Show | a0001c0001t0001g0029 a0001c0001t0001g0036 a0001c0001t0001g0037 others(73): Show |
76 | 265 | 0.2868 | 3 | c.211 others(20): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 19/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51637306 | T | TAAA | intron_variant | MODIFIER | HG01070.hp2 HG01106.hp1 HG01167.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0011others(2): Show | a0001c0001t0003a0001c0001t0008a0001c0001t0009others(8): Show | a0001c0001t0003g0013 a0001c0001t0003g0071 a0001c0001t0008g0083 others(9): Show |
12 | 68 | 0.1765 | 3 | c.166 others(22): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 15/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51644271 | T | TTTC | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(160): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(52): Show | a0001c0001t0001g0015 a0001c0001t0001g0026 a0001c0001t0001g0029 others(160): Show |
163 | 310 | 0.5258 | 3 | c.150 others(22): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 14/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51658516 | C | CTTT | intron_variant | MODIFIER | HG01167.hp2 HG01261.hp2 HG01515.hp2 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0019others(1): Show | a0001c0001t0001g0148 a0001c0001t0002g0031 a0001c0001t0002g0242 others(5): Show |
8 | 96 | 0.0833 | 3 | c.129 others(22): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 13/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51663795 | G | GAAA | intron_variant | MODIFIER | HG00639.hp2 HG01192.hp1 HG01256.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0013 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0285 a0001c0001t0002g0031 a0001c0001t0002g0032 others(19): Show |
22 | 129 | 0.1705 | 3 | c.129 others(22): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 13/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51668086 | T | TGGG | intron_variant | MODIFIER | HG00544.hp2 HG00639.hp2 HG01070.hp2 others(20): Show |
a0001 | a0001c0001a0001c0004a0001c0013 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(11): Show | a0001c0001t0002g0093 a0001c0001t0002g0222 a0001c0001t0002g0276 others(20): Show |
23 | 87 | 0.2644 | 3 | c.129 others(22): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 13/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51668188 | A | AAAC | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(165): Show |
a0001a0003 | a0001c0001a0001c0004a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(54): Show | a0001c0001t0001g0015 a0001c0001t0001g0026 a0001c0001t0001g0029 others(165): Show |
168 | 305 | 0.5508 | 3 | c.129 others(22): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 13/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51680225 | T | TAAA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(66): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004others(6): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(38): Show | a0001c0002t0001g0205 a0001c0002t0003g0039 a0001c0002t0004g0206 others(66): Show |
69 | 165 | 0.4182 | 3 | c.800 others(20): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 9/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51681427 | C | CTTT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(75): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004others(7): Show | a0001c0002t0001a0001c0003t0003a0001c0003t0004others(39): Show | a0001c0002t0001g0205 a0001c0003t0003g0178 a0001c0003t0004g0137 others(75): Show |
78 | 257 | 0.3035 | 3 | c.800 others(20): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 9/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51690109 | C | CAAA | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0030 a0001c0001t0001g0036 a0001c0001t0001g0194 others(22): Show |
25 | 89 | 0.2809 | 3 | c.723 others(18): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 8/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51702992 | T | TTTG | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(196): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(85): Show | a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0030 others(196): Show |
199 | 310 | 0.6419 | 3 | c.437 others(20): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 4/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51716490 | G | GAAA | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00423.hp2 others(35): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(20): Show | a0001c0001t0001g0290 a0001c0001t0003g0169 a0001c0001t0005g0300 others(35): Show |
38 | 119 | 0.3193 | 3 | c.328 others(20): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 3/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51728626 | C | CAAA | intron_variant | MODIFIER | HG01175.hp1 HG01175.hp2 HG01358.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0019a0001c0002t0004others(4): Show | a0001c0001t0002g0275 a0001c0001t0019g0265 a0001c0002t0004g0192 others(4): Show |
7 | 21 | 0.3333 | 3 | c.213 others(20): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 2/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51747098 | G | GTTT | intron_variant | MODIFIER | HG00673.hp1 HG02027.hp2 HG03942.hp2 others(13): Show |
a0001 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(7): Show | a0001c0001t0001g0285 a0001c0001t0002g0272 a0001c0001t0002g0278 others(13): Show |
16 | 134 | 0.1194 | 3 | c.69- others(20): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 1/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51753454 | A | AAAC | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00438.hp1 others(120): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(53): Show | a0001c0001t0001g0015 a0001c0001t0001g0026 a0001c0001t0001g0029 others(120): Show |
123 | 221 | 0.5566 | 3 | c.68+ others(20): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 1/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51753484 | C | CAAA | intron_variant | MODIFIER | HG00438.hp2 HG00673.hp1 HG02027.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(9): Show | a0001c0001t0001g0274 a0001c0001t0001g0285 a0001c0001t0002g0272 others(19): Show |
22 | 310 | 0.0710 | 3 | c.68+ others(20): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 1/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51762705 | C | CTTT | intron_variant | MODIFIER | HG00735.hp2 HG01106.hp1 HG01175.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0009others(15): Show | a0001c0001t0002g0222 a0001c0001t0008g0073 a0001c0001t0009g0004 others(20): Show |
23 | 137 | 0.1679 | 3 | c.68+ others(18): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 1/27 | chr20 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79071049 | C | CTTT | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(78): Show |
a0002a0006a0008others(4): Show | a0002c0002a0002c0005a0002c0032others(7): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0004others(13): Show | a0002c0002t0002g0176 a0002c0002t0002g0177 a0002c0002t0002g0178 others(78): Show |
81 | 230 | 0.3522 | 3 | c.119 others(20): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79071399 | C | CTTT | intron_variant | MODIFIER | HG01952.hp2 HG02055.hp2 HG02258.hp1 others(7): Show |
a0001 | a0001c0001a0001c0004a0001c0014 | a0001c0001t0001a0001c0004t0002a0001c0004t0003others(1): Show | a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0095 others(7): Show |
10 | 11 | 0.9091 | 3 | c.119 others(20): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79092640 | C | CTTT | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG02027.hp2 others(6): Show |
a0001a0004a0013 | a0001c0006a0004c0008a0004c0036others(1): Show | a0001c0006t0003a0004c0008t0001a0004c0036t0001others(1): Show | a0001c0006t0003g0267 a0001c0006t0003g0268 a0004c0008t0001g0001 others(5): Show |
9 | 265 | 0.0340 | 3 | c.120 others(20): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79103285 | T | TTTA | intron_variant | MODIFIER | HG00099.hp1 HG01069.hp1 HG01071.hp1 others(11): Show |
a0001a0004 | a0001c0006a0004c0008a0004c0036 | a0001c0006t0003a0001c0006t0004a0001c0006t0007others(2): Show | a0001c0006t0003g0267 a0001c0006t0003g0268 a0001c0006t0004g0273 others(10): Show |
14 | 168 | 0.0833 | 3 | c.293 others(20): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 2/29 | chr18 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79118384 | G | GTTT | intron_variant | MODIFIER | HG02451.hp2 HG02897.hp1 HG03139.hp2 others(2): Show |
a0001a0013 | a0001c0006a0001c0010a0013c0022 | a0001c0006t0004a0001c0010t0001a0001c0010t0004others(1): Show | a0001c0006t0004g0291 a0001c0006t0004g0293 a0001c0010t0001g0297 others(2): Show |
5 | 288 | 0.0174 | 3 | c.558 others(20): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79118390 | G | GGTT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(44): Show |
a0002a0006a0010others(1): Show | a0002c0002a0002c0005a0002c0033others(3): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(9): Show | a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 others(44): Show |
47 | 149 | 0.3154 | 3 | c.558 others(20): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 4/29 | chr18 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79145170 | C | CGGG | intron_variant | MODIFIER | HG00280.hp1 HG00673.hp2 HG01081.hp2 others(86): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(17): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(27): Show | a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0095 others(86): Show |
89 | 296 | 0.3007 | 3 | c.726 others(20): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79157396 | C | CAAA | intron_variant | MODIFIER | HG01106.hp1 HG01358.hp1 HG01884.hp1 others(16): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0003t0002a0001c0003t0003others(6): Show | a0001c0001t0001g0115 a0001c0001t0001g0140 a0001c0001t0001g0141 others(16): Show |
19 | 124 | 0.1532 | 3 | c.778 others(20): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 7/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79195262 | T | TAGA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(205): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0003a0001c0004others(31): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(48): Show | a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0095 others(204): Show |
208 | 296 | 0.7027 | 3 | c.954 others(20): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79246234 | C | CCTA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(28): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0001c0024others(8): Show | a0001c0001t0001a0001c0006t0007a0001c0024t0004others(8): Show | a0001c0001t0001g0100 a0001c0001t0001g0117 a0001c0006t0007g0290 others(27): Show |
31 | 296 | 0.1047 | 3 | c.110 others(22): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 11/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79264672 | G | GTTT | intron_variant | MODIFIER | HG02109.hp2 HG02559.hp1 HG02717.hp2 others(3): Show |
a0001a0013 | a0001c0001a0001c0010a0001c0014others(3): Show | a0001c0001t0001a0001c0010t0004a0001c0014t0006others(3): Show | a0001c0001t0001g0090 a0001c0010t0004g0276 a0001c0014t0006g0017 others(3): Show |
6 | 109 | 0.0550 | 3 | c.126 others(24): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 12/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79270516 | T | TATA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00544.hp1 others(124): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0003a0001c0006others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(23): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(124): Show |
127 | 296 | 0.4291 | 3 | c.126 others(22): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 12/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79274517 | G | GTGC | intron_variant | MODIFIER | HG02572.hp1 HG02809.hp1 HG02970.hp2 |
a0001 | a0001c0011 | a0001c0011t0006 | a0001c0011t0006g0105 a0001c0011t0006g0106 a0001c0011t0006g0107 |
3 | 296 | 0.0101 | 3 | c.126 others(22): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 12/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79373491 | C | CTTT | intron_variant | MODIFIER | HG01346.hp2 HG02135.hp2 HG03669.hp2 others(5): Show |
a0001a0002a0008 | a0001c0003a0002c0002a0008c0035 | a0001c0003t0002a0002c0002t0002a0008c0035t0002 | a0001c0003t0002g0135 a0002c0002t0002g0197 a0002c0002t0002g0201 others(5): Show |
8 | 211 | 0.0379 | 3 | c.307 others(20): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 27/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79376389 | A | ATTT | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG01891.hp2 others(5): Show |
a0001a0002a0005others(1): Show | a0001c0014a0002c0032a0005c0009others(1): Show | a0001c0014t0006a0002c0032t0005a0005c0009t0005others(1): Show | a0001c0014t0006g0017 a0001c0014t0006g0097 a0002c0032t0005g0189 others(5): Show |
8 | 148 | 0.0541 | 3 | c.330 others(20): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 29/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATPAF1_chr1_46627737_46673364 | 46654528 | T | TTTA | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00597.hp2 others(53): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0002g0004 a0001c0001t0002g0017 a0001c0001t0002g0022 others(30): Show |
56 | 246 | 0.2276 | 3 | c.490 others(18): Show |
ATPAF1 | ENSG00000123472.13 | transcript | ENST00000574428.6 | protein_coding | 4/8 | chr1 | TogoVar | |||||||
ATPAF1_chr1_46627737_46673364 | 46668333 | G | GCCT | 5_prime_UTR_variant | MODIFIER | HG01891.hp2 HG02630.hp1 HG02886.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0013 | 4 | 409 | 0.0098 | 3 | c.-14 others(10): Show |
ATPAF1 | ENSG00000123472.13 | transcript | ENST00000574428.6 | protein_coding | 1/9 | 12 | chr1 | TogoVar | ||||||
ATPAF2_chr17_18013021_18044168 | 18017171 | C | CAAA | downstream_gene_variant | MODIFIER | HG00642.hp2 HG03130.hp1 HG03471.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0257 a0001c0001t0002g0010 a0001c0001t0002g0011 others(3): Show |
6 | 62 | 0.0968 | 3 | c.*13 others(14): Show |
ATPAF2 | ENSG00000171953.16 | transcript | ENST00000474627.8 | protein_coding | 849 | chr17 | TogoVar | |||||||
ATPAF2_chr17_18013021_18044168 | 18027331 | G | GACC | intron_variant | MODIFIER | HG00609.hp1 HG01934.hp1 HG02056.hp1 others(20): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0005a0002c0002t0003others(2): Show | a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 others(20): Show |
23 | 326 | 0.0706 | 3 | c.324 others(18): Show |
ATPAF2 | ENSG00000171953.16 | transcript | ENST00000474627.8 | protein_coding | 3/7 | chr17 | TogoVar |