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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATL2_chr2_38288954_38382273 | 38325673 | CACACACA others(19): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00438.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0004a0002c0002t0001 | a0001c0001t0002g0109 a0001c0001t0004g0142 a0001c0001t0004g0144 others(2): Show |
5 | 232 | 0.0216 | -26 | c.364 others(43): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160652889 | TTATATAA others(19): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG02027.hp2 others(17): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0011others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0067 a0001c0001t0001g0118 a0001c0001t0001g0143 others(17): Show |
20 | 107 | 0.1869 | -26 | c.676 others(43): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160755832 | AAAAAAAA others(19): Show |
A | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0008 | a0001c0008t0045 | a0001c0008t0045g0026 | 1 | 211 | 0.0047 | -26 | c.-33 others(47): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 2/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160783572 | CACACACA others(19): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG00673.hp2 others(18): Show |
a0001a0002a0009others(1): Show | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0007others(4): Show | a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 others(18): Show |
21 | 234 | 0.0897 | -26 | c.-33 others(45): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 2/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160822989 | CATATATA others(19): Show |
C | intron_variant | MODIFIER | HG01123.hp2 HG01243.hp1 HG01261.hp1 others(7): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0033others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(6): Show | a0001c0001t0001g0166 a0001c0001t0001g0182 a0001c0001t0002g0206 others(7): Show |
10 | 140 | 0.0714 | -26 | c.-57 others(47): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 1/25 | chr5 | TogoVar | |||||||
ATP11A_chr13_112685038_112892168 | 112686814 | AGATAATC others(19): Show |
A | upstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0041 | 1 | 252 | 0.0040 | -26 | c.-36 others(37): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 3223 | chr13 | TogoVar | |||||||
ATP11A_chr13_112685038_112892168 | 112731303 | GTTAGCTT others(19): Show |
G | intron_variant | MODIFIER | HG02451.hp2 HG02647.hp2 HG02809.hp1 others(11): Show |
a0001 | a0001c0001a0001c0004a0001c0006others(4): Show | a0001c0001t0002a0001c0001t0021a0001c0004t0003others(6): Show | a0001c0001t0002g0050 a0001c0001t0021g0240 a0001c0004t0003g0034 others(11): Show |
14 | 252 | 0.0556 | -26 | c.39+ others(43): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112804068 | CACCTCCC others(19): Show |
C | intron_variant | MODIFIER | HG03710.hp2 | a0002 | a0002c0003 | a0002c0003t0035 | a0002c0003t0035g0031 | 1 | 251 | 0.0040 | -26 | c.163 others(41): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | chr13 | TogoVar | |||||||
ATP11B_chr3_182788504_182926629 | 182924788 | GATAATAC others(19): Show |
G | downstream_gene_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 322 | 0.0031 | -26 | c.*66 others(37): Show |
ATP11B | ENSG00000058063.16 | transcript | ENST00000323116.10 | protein_coding | 3160 | chr3 | TogoVar | |||||||
ATP11C_chrX_139721348_139938053 | 139769281 | CATATATA others(19): Show |
C | intron_variant | MODIFIER | HG01496.hp2 HG02109.hp2 HG02257.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0018 | a0001c0001t0003g0017 a0001c0001t0003g0021 a0001c0001t0003g0022 others(7): Show |
10 | 41 | 0.2439 | -26 | c.221 others(43): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 19/29 | chrX | TogoVar | |||||||
ATP11C_chrX_139721348_139938053 | 139922223 | AATATATA others(19): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG01175.hp1 HG01496.hp1 others(17): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(4): Show | a0001c0001t0001g0068 a0001c0001t0001g0074 a0001c0001t0001g0086 others(17): Show |
20 | 30 | 0.6667 | -26 | c.27+ others(41): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1/29 | chrX | TogoVar | |||||||
ATP13A1_chr19_19640198_19668676 | 19661112 | AAAAAACA others(19): Show |
A | intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 378 | 0.0026 | -26 | c.397 others(43): Show |
ATP13A1 | ENSG00000105726.17 | transcript | ENST00000357324.11 | protein_coding | 1/25 | chr19 | TogoVar | |||||||
ATP2A3_chr17_3918873_3969437 | 3966363 | GTTTTTTT others(19): Show |
G | upstream_gene_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0042 | a0001c0042t0016 | a0001c0042t0016g0306 | 1 | 26 | 0.0385 | -26 | c.-20 others(37): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 1927 | chr17 | TogoVar | |||||||
ATP5F1A_chr18_46075248_46103296 | 46095833 | GACTGGGC others(19): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00544.hp1 others(86): Show |
a0001a0004 | a0001c0001a0001c0004a0004c0006 | a0001c0001t0002a0001c0001t0008a0001c0001t0018others(25): Show | a0001c0001t0002g0001 a0001c0001t0002g0022 a0001c0001t0002g0034 others(53): Show |
89 | 388 | 0.2294 | -26 | c.61- others(39): Show |
ATP5F1A | ENSG00000152234.16 | transcript | ENST00000398752.11 | protein_coding | 1/11 | chr18 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138784227 | TATATATA others(19): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG01074.hp1 others(23): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0007a0001c0008others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(12): Show | a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0024 others(23): Show |
26 | 374 | 0.0695 | -26 | c.-18 others(43): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 2/21 | chr7 | TogoVar | |||||||
ATP6V0D2_chr8_86093910_86159225 | 86145229 | AAGAAAGA others(19): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02056.hp1 HG02129.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0037 a0001c0001t0001g0064 a0001c0001t0001g0102 others(12): Show |
15 | 357 | 0.0420 | -26 | c.639 others(43): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ATP6V1B1_chr2_70930900_70970431 | 70945701 | GATATATA others(19): Show |
G | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 2 | 65 | 0.0308 | -26 | c.174 others(43): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATP6V1E1_chr22_17587136_17633749 | 17631662 | GTGTGTGT others(19): Show |
G | upstream_gene_variant | MODIFIER | HG00733.hp2 HG01168.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027 a0001c0001t0002g0257 |
2 | 336 | 0.0060 | -26 | c.-30 others(37): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2914 | chr22 | TogoVar | |||||||
ATP6V1E1_chr22_17587136_17633749 | 17631692 | ATATATAT others(19): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG00733.hp1 others(23): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0011 others(15): Show |
26 | 365 | 0.0712 | -26 | c.-30 others(37): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2944 | chr22 | TogoVar | |||||||
ATP6V1E1_chr22_17587136_17633749 | 17631696 | ATATATAT others(19): Show |
A | upstream_gene_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 360 | 0.0028 | -26 | c.-30 others(37): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2948 | chr22 | TogoVar | |||||||
ATP6V1E2_chr2_46506847_46547577 | 46518758 | TTGTGTGT others(19): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(239): Show |
a0001a0004a0005 | a0001c0001a0001c0005a0004c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(141): Show |
242 | 261 | 0.9272 | -26 | c.-10 others(45): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 4/4 | chr2 | TogoVar | |||||||
ATP6V1E2_chr2_46506847_46547577 | 46546451 | CATATATA others(19): Show |
C | upstream_gene_variant | MODIFIER | HG00741.hp2 HG02886.hp2 HG03139.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005 | a0001c0001t0001g0072 a0001c0001t0003g0012 a0001c0001t0003g0033 others(7): Show |
10 | 287 | 0.0348 | -26 | c.-46 others(37): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 3875 | chr2 | TogoVar | |||||||
ATP6V1E2_chr2_46506847_46547577 | 46546507 | TATATGTA others(19): Show |
T | upstream_gene_variant | MODIFIER | HG02280.hp1 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0170 a0001c0001t0003g0187 |
2 | 406 | 0.0049 | -26 | c.-46 others(37): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 3931 | chr2 | TogoVar | |||||||
ATP6V1H_chr8_53710543_53848245 | 53755685 | CATATATA others(19): Show |
C | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 182 | 0.0055 | -26 | c.127 others(43): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | TogoVar | |||||||
ATP8A2_chr13_25366974_26030851 | 25829668 | GTATATAT others(19): Show |
G | intron_variant | MODIFIER | HG03130.hp2 NA20129.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0050a0001c0007t0001 | a0001c0001t0050g0025 a0001c0007t0001g0081 |
2 | 12 | 0.1667 | -26 | c.275 others(45): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57661650 | CACATATA others(19): Show |
C | intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0306 | 1 | 312 | 0.0032 | -26 | c.241 others(43): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 21/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57730814 | TATATATA others(19): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(305): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(56): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0010 others(305): Show |
308 | 312 | 0.9872 | -26 | c.181 others(41): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 2/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57753936 | AAAAAAAA others(19): Show |
A | intron_variant | MODIFIER | HG02451.hp1 HG02451.hp2 HG02809.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0083 a0001c0001t0001g0097 a0001c0001t0001g0117 others(8): Show |
11 | 312 | 0.0353 | -26 | c.-25 others(45): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57787400 | GCACTGCG others(19): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG01106.hp2 HG01884.hp2 others(4): Show |
a0001 | a0001c0001a0001c0005a0001c0019 | a0001c0001t0002a0001c0001t0007a0001c0001t0010others(4): Show | a0001c0001t0002g0279 a0001c0001t0007g0210 a0001c0001t0010g0157 others(4): Show |
7 | 280 | 0.0250 | -26 | c.-26 others(45): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | |||||||
ATP8B3_chr19_1777075_1817276 | 1779395 | AAGAGAGA others(19): Show |
A | downstream_gene_variant | MODIFIER | NA18957.hp2 | a0004 | a0004c0016 | a0004c0016t0002 | a0004c0016t0002g0125 | 1 | 388 | 0.0026 | -26 | c.*36 others(37): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 2679 | chr19 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50072962 | CTCTCTCT others(19): Show |
C | intron_variant | MODIFIER | HG01891.hp1 | a0007 | a0007c0008 | a0007c0008t0017 | a0007c0008t0017g0021 | 1 | 237 | 0.0042 | -26 | c.87+ others(41): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50072964 | CTCTCTCT others(19): Show |
C | intron_variant | MODIFIER | HG02109.hp1 | a0013 | a0013c0015 | a0013c0015t0027 | a0013c0015t0027g0153 | 1 | 239 | 0.0042 | -26 | c.87+ others(41): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50072970 | CTCTCTCT others(19): Show |
C | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0245 | 1 | 240 | 0.0042 | -26 | c.87+ others(41): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50073007 | TATATATA others(19): Show |
T | intron_variant | MODIFIER | NA19030.hp1 | a0004 | a0004c0010 | a0004c0010t0005 | a0004c0010t0005g0151 | 1 | 250 | 0.0040 | -26 | c.87+ others(41): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50073009 | TATATATA others(19): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG02602.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0047 a0002c0002t0001g0150 |
2 | 251 | 0.0080 | -26 | c.87+ others(41): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50085877 | TTATATAT others(19): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(35): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0206 a0001c0001t0001g0212 a0001c0001t0001g0213 others(35): Show |
38 | 228 | 0.1667 | -26 | c.29- others(43): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51638069 | TTTTATAT others(19): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp2 HG00639.hp2 others(60): Show |
a0001a0003 | a0001c0001a0001c0006a0001c0013others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0015 a0001c0001t0001g0029 a0001c0001t0001g0037 others(60): Show |
63 | 197 | 0.3198 | -26 | c.166 others(45): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 15/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51638071 | TTATATAT others(19): Show |
T | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0137 | 1 | 165 | 0.0061 | -26 | c.166 others(45): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 15/27 | chr20 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79245667 | GTGACTGT others(19): Show |
G | intron_variant | MODIFIER | HG00323.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0230 | 1 | 209 | 0.0048 | -26 | c.110 others(45): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 11/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79245898 | AGGAGGGC others(19): Show |
A | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0113 | 1 | 296 | 0.0034 | -26 | c.110 others(45): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 11/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79297339 | GAGATGAC others(19): Show |
G | intron_variant | MODIFIER | HG03098.hp2 HG03453.hp2 |
a0011a0012 | a0011c0030a0012c0023 | a0011c0030t0001a0012c0023t0001 | a0011c0030t0001g0253 a0012c0023t0001g0042 |
2 | 296 | 0.0068 | -26 | c.141 others(45): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 13/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77626028 | CATATATA others(19): Show |
C | intron_variant | MODIFIER | HG02080.hp2 NA18944.hp1 NA18945.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0089 a0001c0001t0002g0113 a0001c0001t0002g0118 others(6): Show |
9 | 30 | 0.3000 | -26 | c.513 others(45): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 19/34 | chrX | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105619510 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG02027.hp2 NA18989.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0102 a0001c0001t0008g0046 |
2 | 250 | 0.0080 | -26 | c.151 others(43): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 9/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105619512 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0021 | 1 | 249 | 0.0040 | -26 | c.151 others(43): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 9/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105619518 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0124 | 1 | 239 | 0.0042 | -26 | c.151 others(43): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 9/11 | chr7 | TogoVar | |||||||
AUTS2_chr7_69593475_70798506 | 69602032 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0054 | 1 | 50 | 0.0200 | -26 | c.309 others(43): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69602038 | ATATGTGT others(19): Show |
A | intron_variant | MODIFIER | NA20752.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0016 | a0001c0001t0015g0002 a0001c0001t0016g0003 |
2 | 76 | 0.0263 | -26 | c.309 others(43): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69602040 | ATGTGTGT others(19): Show |
A | intron_variant | MODIFIER | HG02647.hp2 HG02717.hp2 HG03225.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0032a0001c0001t0035a0002c0002t0036 | a0001c0001t0032g0016 a0001c0001t0035g0019 a0002c0002t0036g0017 |
3 | 52 | 0.0577 | -26 | c.309 others(43): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69876484 | GTATATAT others(19): Show |
G | intron_variant | MODIFIER | HG02257.hp1 HG02886.hp1 HG03139.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0004a0002c0002t0001 | a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0004g0048 others(1): Show |
4 | 9 | 0.4444 | -26 | c.310 others(45): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVEN_chr15_33861227_34044204 | 33933520 | CACACAGA others(19): Show |
C | intron_variant | MODIFIER | NA18987.hp2 | a0008 | a0008c0009 | a0008c0009t0002 | a0008c0009t0002g0020 | 1 | 167 | 0.0060 | -26 | c.446 others(45): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar |