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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP2A3_chr17_3918873_3969437 | 3966363 | GTTTTTTT others(15): Show |
G | upstream_gene_variant | MODIFIER | HG02630.hp1 HG03540.hp2 HG06807.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0003 a0001c0001t0001g0156 a0001c0003t0001g0047 |
3 | 28 | 0.1071 | -22 | c.-20 others(33): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 1927 | chr17 | TogoVar | |||||||
ATP2B4_chr1_203621832_203749081 | 203674637 | CTTTTTTT others(15): Show |
C | intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0003 | a0001c0003t0058 | a0001c0003t0058g0022 | 1 | 26 | 0.0385 | -22 | c.-46 others(41): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP2C1_chr3_130889084_131008150 | 130902284 | GTTTTTTT others(15): Show |
G | intron_variant | MODIFIER | HG02970.hp2 HG02976.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 |
3 | 122 | 0.0246 | -22 | c.6+7 others(35): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATP5MC2_chr12_53660170_53681083 | 53667950 | CACACACA others(15): Show |
C | intron_variant | MODIFIER | NA18987.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 400 | 0.0025 | -22 | c.311 others(39): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 4/4 | chr12 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138784231 | TATACGTA others(15): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG03098.hp1 |
a0001 | a0001c0010a0001c0013 | a0001c0010t0002a0001c0013t0001 | a0001c0010t0002g0035 a0001c0010t0002g0363 a0001c0013t0001g0206 |
3 | 365 | 0.0082 | -22 | c.-18 others(39): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 2/21 | chr7 | TogoVar | |||||||
ATP6V0D2_chr8_86093910_86159225 | 86145233 | AAGAGAGA others(15): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG01346.hp1 HG01993.hp1 others(21): Show |
a0001a0004 | a0001c0001a0001c0004a0004c0009 | a0001c0001t0001a0001c0001t0003a0001c0004t0001others(1): Show | a0001c0001t0001g0010 a0001c0001t0001g0024 a0001c0001t0001g0069 others(21): Show |
24 | 335 | 0.0716 | -22 | c.639 others(39): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ATP6V1B1_chr2_70930900_70970431 | 70945699 | GAGATATA others(15): Show |
G | intron_variant | MODIFIER | HG03139.hp1 HG03516.hp1 |
a0002 | a0002c0006a0002c0011 | a0002c0006t0001a0002c0011t0002 | a0002c0006t0001g0249 a0002c0011t0002g0348 |
2 | 265 | 0.0075 | -22 | c.174 others(39): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATP6V1E1_chr22_17587136_17633749 | 17631698 | ATATATAT others(15): Show |
A | upstream_gene_variant | MODIFIER | HG02622.hp2 HG03453.hp1 |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0043 a0001c0002t0006g0045 |
2 | 352 | 0.0057 | -22 | c.-30 others(33): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2950 | chr22 | TogoVar | |||||||
ATP6V1E1_chr22_17587136_17633749 | 17631700 | ATATATAT others(15): Show |
A | upstream_gene_variant | MODIFIER | HG03139.hp1 NA18974.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0006 | a0001c0001t0004g0193 a0001c0002t0006g0044 |
2 | 366 | 0.0055 | -22 | c.-30 others(33): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2952 | chr22 | TogoVar | |||||||
ATP6V1E2_chr2_46506847_46547577 | 46518758 | TTGTGTGT others(15): Show |
T | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0245 | 1 | 20 | 0.0500 | -22 | c.-10 others(41): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 4/4 | chr2 | TogoVar | |||||||
ATP6V1E2_chr2_46506847_46547577 | 46546511 | TGTATATA others(15): Show |
T | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02630.hp2 HG02897.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0092 a0001c0001t0003g0165 a0001c0001t0003g0169 others(1): Show |
4 | 386 | 0.0104 | -22 | c.-46 others(33): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 3935 | chr2 | TogoVar | |||||||
ATP6V1H_chr8_53710543_53848245 | 53755685 | CATATATA others(15): Show |
C | intron_variant | MODIFIER | HG02630.hp2 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0256 a0001c0001t0003g0004 |
2 | 183 | 0.0109 | -22 | c.127 others(39): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | TogoVar | |||||||
ATP6V1H_chr8_53710543_53848245 | 53819547 | CATATATA others(15): Show |
C | intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 114 | 0.0088 | -22 | c.307 others(39): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42635776 | CACACACA others(15): Show |
C | intron_variant | MODIFIER | HG02922.hp2 HG02970.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 |
3 | 302 | 0.0099 | -22 | c.50- others(37): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/36 | chr4 | TogoVar | |||||||
ATP8A2_chr13_25366974_26030851 | 25829668 | GTATATAT others(15): Show |
G | intron_variant | MODIFIER | HG01175.hp1 HG01358.hp2 HG02015.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0051a0001c0002t0001others(1): Show | a0001c0001t0002g0079 a0001c0001t0051g0053 a0001c0002t0001g0032 others(1): Show |
4 | 14 | 0.2857 | -22 | c.275 others(41): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57672886 | GTATATAT others(15): Show |
G | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0280 | 1 | 167 | 0.0060 | -22 | c.182 others(41): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 16/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57680683 | TCTCACCC others(15): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(150): Show |
a0001a0004a0005others(2): Show | a0001c0001a0001c0006a0001c0013others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0012 others(150): Show |
153 | 312 | 0.4904 | -22 | c.163 others(41): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 15/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57717547 | CAAAAAAA others(15): Show |
C | intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0079 | 1 | 7 | 0.1429 | -22 | c.182 others(41): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 2/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57731308 | AATATATA others(15): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG01346.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0011 | a0001c0001t0004g0113 a0001c0001t0011g0159 |
2 | 144 | 0.0139 | -22 | c.181 others(37): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 2/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57761097 | AAAAATAA others(15): Show |
A | intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 306 | 0.0033 | -22 | c.-25 others(41): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57784654 | ATGCAGGA others(15): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02970.hp2 HG03130.hp1 others(3): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0003a0004c0009others(1): Show | a0001c0001t0001a0001c0001t0041a0003c0003t0022others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0121 a0001c0001t0041g0192 others(3): Show |
6 | 312 | 0.0192 | -22 | c.-26 others(41): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | |||||||
ATP8B3_chr19_1777075_1817276 | 1795784 | TACACACA others(15): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG02486.hp1 HG02717.hp1 others(6): Show |
a0001a0002a0007 | a0001c0006a0002c0003a0002c0007others(2): Show | a0001c0006t0004a0001c0006t0005a0002c0003t0005others(3): Show | a0001c0006t0004g0372 a0001c0006t0005g0368 a0002c0003t0005g0273 others(6): Show |
9 | 47 | 0.1915 | -22 | c.205 others(37): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 18/28 | chr19 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50072921 | CCTCTCTC others(15): Show |
C | intron_variant | MODIFIER | HG02074.hp2 HG02145.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0094 a0001c0001t0002g0056 |
2 | 188 | 0.0106 | -22 | c.87+ others(37): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50072960 | CTCTCTCT others(15): Show |
C | intron_variant | MODIFIER | HG03490.hp1 HG03492.hp2 |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0139 a0003c0003t0003g0140 |
2 | 237 | 0.0084 | -22 | c.87+ others(37): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50073009 | TATATATA others(15): Show |
T | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0090 | 1 | 250 | 0.0040 | -22 | c.87+ others(37): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50073011 | TATATATA others(15): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG02717.hp1 |
a0009 | a0009c0009 | a0009c0009t0001a0009c0009t0024 | a0009c0009t0001g0185 a0009c0009t0024g0186 |
2 | 245 | 0.0082 | -22 | c.87+ others(37): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50073013 | TATATATA others(15): Show |
T | intron_variant | MODIFIER | NA18953.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0030 | 1 | 242 | 0.0041 | -22 | c.87+ others(37): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51638069 | TTTTATAT others(15): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG01257.hp1 HG02683.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(3): Show | a0001c0001t0001g0094 a0001c0001t0001g0237 a0001c0001t0001g0251 others(5): Show |
8 | 142 | 0.0563 | -22 | c.166 others(41): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 15/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51638071 | TTATATAT others(15): Show |
T | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0003 | a0001c0003t0029 | a0001c0003t0029g0107 | 1 | 165 | 0.0061 | -22 | c.166 others(41): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 15/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51642726 | CAAAAAAA others(15): Show |
C | intron_variant | MODIFIER | HG02615.hp1 HG03139.hp1 |
a0001 | a0001c0019a0001c0020 | a0001c0019t0010a0001c0020t0009 | a0001c0019t0010g0123 a0001c0020t0009g0121 |
2 | 223 | 0.0090 | -22 | c.150 others(41): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 14/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51772045 | GTAGAGAA others(15): Show |
G | upstream_gene_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0002 | a0001c0002t0029 | a0001c0002t0029g0044 | 1 | 310 | 0.0032 | -22 | c.-36 others(33): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 3656 | chr20 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79297359 | GAGACACA others(15): Show |
G | intron_variant | MODIFIER | HG02897.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0183 | 1 | 296 | 0.0034 | -22 | c.141 others(41): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 13/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79372175 | CTCCCCTG others(15): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(161): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0003a0001c0004others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(34): Show | a0001c0001t0001g0054 a0001c0001t0001g0086 a0001c0001t0001g0088 others(161): Show |
164 | 293 | 0.5597 | -22 | c.301 others(39): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115230870 | TGAGAGAG others(15): Show |
T | intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0070 | 1 | 28 | 0.0357 | -22 | c.153 others(43): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 9/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115389540 | GTATATAT others(15): Show |
G | intron_variant | MODIFIER | HG01109.hp1 | a0002 | a0002c0008 | a0002c0008t0044 | a0002c0008t0044g0061 | 1 | 36 | 0.0278 | -22 | c.317 others(41): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 19/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115630827 | TACACACA others(15): Show |
T | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0121 | 1 | 30 | 0.0333 | -22 | c.379 others(43): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115837466 | CCACACAC others(15): Show |
C | intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 5 | 0.2000 | -22 | c.390 others(43): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRN_chr20_3466018_3656118 | 3630916 | CTTTTTTT others(15): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(14): Show |
a0001a0003a0005 | a0001c0001a0001c0003a0003c0008others(1): Show | a0001c0001t0005a0001c0001t0013a0001c0003t0005others(3): Show | a0001c0001t0005g0015 a0001c0001t0005g0035 a0001c0001t0005g0060 others(14): Show |
17 | 22 | 0.7727 | -22 | c.386 others(41): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 25/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77556295 | AAGAGGGA others(15): Show |
A | intron_variant | MODIFIER | HG02895.hp1 HG03209.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0066 a0001c0001t0007g0067 a0001c0001t0007g0069 |
3 | 214 | 0.0140 | -22 | c.669 others(41): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 30/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77626028 | CATATATA others(15): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG02257.hp1 HG02559.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(1): Show | a0001c0001t0001g0139 a0001c0001t0003g0085 a0001c0003t0001g0079 others(5): Show |
8 | 29 | 0.2759 | -22 | c.513 others(41): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 19/34 | chrX | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142496278 | CTATATAT others(15): Show |
C | intron_variant | MODIFIER | HG04115.hp2 NA19068.hp2 |
a0002 | a0002c0002a0002c0005 | a0002c0002t0001a0002c0005t0001 | a0002c0002t0001g0257 a0002c0005t0001g0285 |
2 | 23 | 0.0870 | -22 | c.589 others(37): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 34/46 | chr3 | TogoVar | |||||||
ATXN10_chr22_45666834_45850307 | 45749110 | CTAGGCTC others(15): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp1 others(148): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0082 a0001c0001t0001g0088 others(147): Show |
151 | 314 | 0.4809 | -22 | c.117 others(41): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ATXN10_chr22_45666834_45850307 | 45753376 | GCTTTTTT others(15): Show |
G | intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 313 | 0.0032 | -22 | c.117 others(43): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | chr22 | TogoVar | |||||||
ATXN10_chr22_45666834_45850307 | 45753377 | CTTTTTTT others(15): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG00735.hp2 HG01106.hp2 others(17): Show |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0023 a0001c0001t0001g0062 a0001c0001t0001g0063 others(17): Show |
20 | 24 | 0.8333 | -22 | c.117 others(43): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ATXN1L_chr16_71840976_71862328 | 71845028 | CAGTTAAT others(15): Show |
C | upstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0037 | 1 | 416 | 0.0024 | -22 | c.-12 others(33): Show |
ATXN1L | ENSG00000224470.9 | transcript | ENST00000427980.7 | protein_coding | 947 | chr16 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16402242 | GTTTTTTT others(15): Show |
G | intron_variant | MODIFIER | HG02630.hp1 | a0002 | a0002c0030 | a0002c0030t0011 | a0002c0030t0011g0047 | 1 | 3 | 0.3333 | -22 | c.-16 others(43): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16466317 | CAAAAAAA others(15): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02615.hp1 HG03130.hp1 |
a0002 | a0002c0004 | a0002c0004t0003a0002c0004t0049 | a0002c0004t0003g0006 a0002c0004t0003g0114 a0002c0004t0049g0005 |
3 | 32 | 0.0938 | -22 | c.-16 others(43): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111483188 | AACACATA others(15): Show |
A | intron_variant | MODIFIER | NA18981.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0091 | 1 | 192 | 0.0052 | -22 | c.252 others(41): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105619522 | ATATATAT others(15): Show |
A | intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0055 | 1 | 241 | 0.0041 | -22 | c.151 others(39): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 9/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105619524 | ATATATAT others(15): Show |
A | intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0007 | a0001c0007t0033 | a0001c0007t0033g0157 | 1 | 236 | 0.0042 | -22 | c.151 others(39): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 9/11 | chr7 | TogoVar |