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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATRNL1_chr10_115088365_115953999 | 115600929 | CTTTTTTT | C | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp2 HG00738.hp2 others(21): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0011others(17): Show | a0001c0001t0002g0015a0001c0001t0002g0111a0001c0001t0002g0113others(21): Show | 24 | 128 | 0.1875 | -7 | c.379 others(28): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115774425 | CAAAAAAA | C | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp2 HG00738.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(8): Show | a0001c0001t0002g0077a0001c0001t0002g0113a0001c0001t0002g0114others(12): Show | 15 | 128 | 0.1172 | -7 | c.390 others(28): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115909621 | TAAAAAAA | T | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG00735.hp2 others(43): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0036a0001c0001t0001g0055a0001c0001t0001g0065others(43): Show | 46 | 128 | 0.3594 | -7 | c.401 others(28): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 28/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRN_chr20_3466018_3656118 | 3630916 | CTTTTTTT | C | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG01943.hp2 others(13): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0007others(4): Show | a0001c0001t0023a0001c0002t0004a0001c0002t0006others(5): Show | a0001c0001t0023g0087a0001c0002t0004g0030a0001c0002t0004g0092others(13): Show | 16 | 220 | 0.0727 | -7 | c.386 others(26): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 25/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ATRX_chrX_77499880_77791216 | 77556221 | GGGAGAGA | G | intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0089 | 1 | 218 | 0.0046 | -7 | c.669 others(26): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 30/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77585583 | CAAAAAAA | C | intron_variant | MODIFIER | HG02683.hp2 NA18990.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0036a0002c0002t0001g0050 | 2 | 218 | 0.0092 | -7 | c.621 others(26): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 27/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77636902 | GAAGAAGA | G | intron_variant | MODIFIER | HG02451.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0005a0001c0001t0008g0006 | 2 | 218 | 0.0092 | -7 | c.455 others(24): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 15/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77651155 | TGCAGTGA | T | intron_variant | MODIFIER | NA18986.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0049 | 1 | 218 | 0.0046 | -7 | c.455 others(24): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 15/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77656239 | AAAAGCCC | A | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0094 | 1 | 218 | 0.0046 | -7 | c.421 others(24): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 13/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77716110 | ATTTTTTT | A | intron_variant | MODIFIER | HG02572.hp1 HG02647.hp1 HG02723.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007 | a0001c0001t0005g0073a0001c0001t0005g0074a0001c0001t0005g0075others(1): Show | 4 | 218 | 0.0184 | -7 | c.133 others(24): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 2/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77760468 | TGGGGGGA | T | intron_variant | MODIFIER | NA19001.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0054 | 1 | 218 | 0.0046 | -7 | c.20+ others(24): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 1/34 | chrX | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142496278 | CTATATAT | C | intron_variant | MODIFIER | HG02056.hp1 HG02895.hp2 HG03942.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0052a0001c0001t0001g0115a0003c0003t0001g0158others(3): Show | 6 | 322 | 0.0186 | -7 | c.589 others(22): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 34/46 | chr3 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16316865 | CTTTTTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00735.hp2 others(25): Show |
a0001a0010a0012others(5): Show | a0001c0001a0001c0027a0010c0039others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0029others(12): Show | a0001c0001t0001g0037a0001c0001t0001g0045a0001c0001t0001g0083others(25): Show | 28 | 182 | 0.1539 | -7 | c.191 others(26): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 7/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16402242 | GTTTTTTT | G | intron_variant | MODIFIER | HG01361.hp1 HG02280.hp1 HG02280.hp2 others(4): Show |
a0001a0002a0006others(2): Show | a0001c0029a0002c0002a0006c0008others(2): Show | a0001c0029t0039a0002c0002t0010a0006c0008t0002others(2): Show | a0001c0029t0039g0041a0002c0002t0010g0015a0006c0008t0002g0013others(4): Show | 7 | 182 | 0.0385 | -7 | c.-16 others(28): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16411125 | CAAAAAAA | C | intron_variant | MODIFIER | HG01361.hp1 HG02055.hp2 HG02280.hp1 others(7): Show |
a0001a0002a0006others(4): Show | a0001c0029a0002c0002a0006c0008others(4): Show | a0001c0029t0039a0002c0002t0010a0006c0008t0002others(4): Show | a0001c0029t0039g0041a0002c0002t0010g0015a0006c0008t0002g0013others(7): Show | 10 | 182 | 0.0550 | -7 | c.-16 others(28): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16569528 | GAAAAAAA | G | intron_variant | MODIFIER | HG01074.hp1 HG01109.hp2 HG02896.hp2 others(2): Show |
a0002a0003a0007others(1): Show | a0002c0002a0003c0051a0007c0009others(2): Show | a0002c0002t0010a0003c0051t0010a0007c0009t0002others(2): Show | a0002c0002t0010g0015a0003c0051t0010g0173a0007c0009t0002g0164others(2): Show | 5 | 182 | 0.0275 | -7 | c.-36 others(28): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16579486 | CCCCCCCA | C | intron_variant | MODIFIER | HG01074.hp1 HG01109.hp2 HG01255.hp2 others(27): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0028a0001c0029others(16): Show | a0001c0001t0020a0001c0028t0015a0001c0029t0048others(23): Show | a0001c0001t0020g0002a0001c0028t0015g0017a0001c0029t0048g0031others(27): Show | 30 | 182 | 0.1648 | -7 | c.-36 others(26): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16714188 | CACACACA | C | intron_variant | MODIFIER | HG00597.hp2 HG00642.hp2 HG01070.hp2 others(25): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0029a0001c0052others(20): Show | a0001c0001t0001a0001c0029t0039a0001c0052t0047others(23): Show | a0001c0001t0001g0043a0001c0001t0001g0045a0001c0029t0039g0041others(25): Show | 28 | 182 | 0.1539 | -7 | c.-61 others(28): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
ATXN2L_chr16_28817999_28842232 | 28822934 | GGCCCCCC | G | upstream_gene_variant | MODIFIER | HG01071.hp1 HG01257.hp1 HG01258.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0002t0001g0007others(1): Show | 6 | 382 | 0.0157 | -7 | c.-32 others(16): Show |
ATXN2L | ENSG00000168488.19 | transcript | ENST00000336783.9 | protein_coding | 64 | chr16 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111465767 | CAAAAAAA | C | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(73): Show |
a0001a0002a0003others(3): Show | a0001c0003a0002c0002a0002c0016others(4): Show | a0001c0003t0001a0002c0002t0001a0002c0002t0003others(5): Show | a0001c0003t0001g0129a0001c0003t0001g0130a0001c0003t0001g0131others(73): Show | 76 | 298 | 0.2550 | -7 | c.284 others(26): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111588991 | CAAAAAAA | C | intron_variant | MODIFIER | HG01884.hp2 HG02145.hp2 HG02559.hp2 others(5): Show |
a0002a0005a0017 | a0002c0002a0005c0009a0017c0024 | a0002c0002t0001a0005c0009t0001a0017c0024t0001 | a0002c0002t0001g0005a0002c0002t0001g0076a0002c0002t0001g0079others(5): Show | 8 | 298 | 0.0269 | -7 | c.251 others(24): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | ||||||
ATXN3_chr14_92053552_92111582 | 92075156 | GTTTTTTT | G | intron_variant | MODIFIER | HG01109.hp1 HG02055.hp1 HG02257.hp2 others(5): Show |
a0004a0016 | a0004c0026a0016c0025 | a0004c0026t0054a0004c0026t0055a0004c0026t0056others(5): Show | a0004c0026t0054g0017a0004c0026t0055g0018a0004c0026t0056g0016others(5): Show | 8 | 402 | 0.0199 | -7 | c.873 others(24): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 9/10 | chr14 | TogoVar | ||||||
ATXN3_chr14_92053552_92111582 | 92089330 | CTCTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp1 others(134): Show |
a0003a0006a0008others(33): Show | a0003c0003a0006c0005a0008c0008others(34): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0004others(76): Show | a0003c0003t0001g0064a0003c0003t0001g0076a0003c0003t0001g0077others(130): Show | 137 | 402 | 0.3408 | -7 | c.388 others(22): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 5/10 | chr14 | TogoVar | ||||||
ATXN3_chr14_92053552_92111582 | 92111050 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG01081.hp2 others(38): Show |
a0002a0007a0010others(13): Show | a0002c0002a0007c0010a0007c0017others(16): Show | a0002c0002t0089a0007c0010t0006a0007c0010t0024others(31): Show | a0002c0002t0089g0382a0007c0010t0006g0381a0007c0010t0024g0126others(38): Show | 41 | 402 | 0.1020 | -7 | c.-45 others(18): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 4469 | chr14 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105619530 | ATTTTTTT | A | intron_variant | MODIFIER | HG00738.hp2 HG01074.hp2 HG01934.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0010a0001c0001t0014others(3): Show | a0001c0001t0003g0071a0001c0001t0010g0111a0001c0001t0014g0038others(4): Show | 7 | 252 | 0.0278 | -7 | c.151 others(24): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 9/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105657702 | CAAAAAAA | C | intron_variant | MODIFIER | HG01192.hp1 HG01255.hp1 HG01515.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0074a0001c0001t0001g0078a0001c0001t0001g0205others(9): Show | 12 | 252 | 0.0476 | -7 | c.578 others(24): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 4/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105693577 | ATCCATCT | A | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp1 HG00673.hp1 others(75): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0008a0001c0012others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0026a0001c0001t0001g0080a0001c0001t0001g0081others(75): Show | 78 | 252 | 0.3095 | -7 | c.356 others(26): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105710401 | CTTTTTTT | C | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 HG02280.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(7): Show | a0001c0001t0001g0205a0001c0001t0001g0222a0001c0001t0004g0203others(10): Show | 13 | 252 | 0.0516 | -7 | c.356 others(26): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105724573 | CAAAAAAA | C | intron_variant | MODIFIER | HG00673.hp2 HG01167.hp2 HG01169.hp2 others(19): Show |
a0001a0005 | a0001c0001a0001c0004a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0017a0001c0001t0001g0033a0001c0001t0001g0085others(19): Show | 22 | 252 | 0.0873 | -7 | c.356 others(26): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105820126 | CAAAAAAA | C | intron_variant | MODIFIER | HG02738.hp1 HG02896.hp1 HG03139.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0001g0145a0001c0001t0004g0246a0001c0001t0005g0248others(3): Show | 6 | 252 | 0.0238 | -7 | c.251 others(26): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105845204 | CAAAAAAA | C | intron_variant | MODIFIER | HG01978.hp2 HG02083.hp2 HG02132.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0043others(1): Show | a0001c0001t0001g0026a0001c0001t0001g0078a0001c0001t0001g0106others(4): Show | 7 | 252 | 0.0278 | -7 | c.250 others(26): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | ||||||
ATXN7L3B_chr12_74532835_74550430 | 74536670 | CTTTTTTT | C | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00544.hp2 others(90): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0016a0001c0001t0029others(10): Show | a0001c0001t0002g0000a0001c0001t0016g0000a0001c0001t0029g0000others(10): Show | 93 | 408 | 0.2279 | -7 | c.-14 others(18): Show |
ATXN7L3B | ENSG00000253719.4 | transcript | ENST00000519948.4 | protein_coding | 1164 | chr12 | TogoVar | ||||||
ATXN7_chr3_63858867_64008462 | 63928324 | CTTATATA | C | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG01993.hp2 others(34): Show |
a0003a0005a0017others(5): Show | a0003c0004a0005c0005a0005c0026others(6): Show | a0003c0004t0003a0003c0004t0022a0003c0004t0023others(8): Show | a0003c0004t0003g0158a0003c0004t0003g0168a0003c0004t0003g0169others(34): Show | 37 | 300 | 0.1233 | -7 | c.394 others(26): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
AUH_chr9_91208823_91366918 | 91251812 | TGGTAAGG | T | intron_variant | MODIFIER | HG00639.hp2 HG01106.hp2 HG01175.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0071a0001c0002t0001g0011a0001c0002t0001g0016others(22): Show | 26 | 358 | 0.0726 | -7 | c.656 others(26): Show |
AUH | ENSG00000148090.12 | transcript | ENST00000375731.9 | protein_coding | 6/9 | chr9 | TogoVar | ||||||
AURKAIP1_chr1_1368736_1380207 | 1370965 | TCAGGCCC | T | downstream_gene_variant | MODIFIER | HG01123.hp2 HG02965.hp2 HG02970.hp1 others(4): Show |
a0001a0007 | a0001c0001a0007c0006 | a0001c0001t0001a0007c0006t0001 | a0001c0001t0001g0004a0001c0001t0001g0019a0007c0006t0001g0013 | 7 | 358 | 0.0196 | -7 | c.*28 others(18): Show |
AURKAIP1 | ENSG00000175756.14 | transcript | ENST00000338338.10 | protein_coding | 2770 | chr1 | TogoVar | ||||||
AURKB_chr17_8199734_8215575 | 8207454 | TCCTCCGC | T | intron_variant | MODIFIER | HG01884.hp2 HG02809.hp2 HG03139.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0020 | 5 | 428 | 0.0117 | -7 | c.207 others(20): Show |
AURKB | ENSG00000178999.13 | transcript | ENST00000585124.6 | protein_coding | 4/8 | chr17 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69670555 | CAAAAAAA | C | intron_variant | MODIFIER | HG01175.hp2 HG01952.hp2 HG02647.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0029a0001c0001t0035 | a0001c0001t0005g0005a0001c0001t0005g0020a0001c0001t0029g0022others(1): Show | 4 | 76 | 0.0526 | -7 | c.309 others(26): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AUTS2_chr7_69593475_70798506 | 69850398 | CAAAAAAA | C | intron_variant | MODIFIER | HG02257.hp2 HG02630.hp1 HG03239.hp1 others(4): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0001g0030a0001c0001t0001g0033a0001c0001t0003g0035others(4): Show | 7 | 76 | 0.0921 | -7 | c.310 others(26): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AUTS2_chr7_69593475_70798506 | 69922064 | CAAAAAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0026a0001c0001t0001g0071a0001c0001t0003g0068 | 3 | 76 | 0.0395 | -7 | c.522 others(26): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70117110 | TTTTTTTG | T | intron_variant | MODIFIER | HG00099.hp2 HG01081.hp2 HG01175.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0005a0001c0001t0009a0001c0001t0018others(9): Show | a0001c0001t0005g0005a0001c0001t0005g0012a0001c0001t0005g0015others(14): Show | 17 | 76 | 0.2237 | -7 | c.523 others(24): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AUTS2_chr7_69593475_70798506 | 70156891 | TAAAAAAA | T | intron_variant | MODIFIER | HG01175.hp2 HG02055.hp2 HG02615.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0029a0001c0001t0035others(3): Show | a0001c0001t0001g0030a0001c0001t0029g0022a0001c0001t0035g0019others(3): Show | 6 | 76 | 0.0790 | -7 | c.660 others(26): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AUTS2_chr7_69593475_70798506 | 70245132 | AAGTGTGT | A | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG01934.hp2 others(2): Show |
a0001a0005 | a0001c0001a0005c0011 | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(1): Show | a0001c0001t0001g0026a0001c0001t0001g0071a0001c0001t0003g0068others(2): Show | 5 | 76 | 0.0658 | -7 | c.660 others(28): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70439538 | CAAAAAAA | C | intron_variant | MODIFIER | HG01952.hp2 HG02165.hp2 HG04199.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0033a0001c0001t0003g0031a0001c0001t0005g0005others(2): Show | 5 | 76 | 0.0658 | -7 | c.690 others(24): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AUTS2_chr7_69593475_70798506 | 70485994 | AAATAAAT | A | intron_variant | MODIFIER | HG02055.hp2 HG02615.hp2 HG02647.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0005a0001c0001t0009a0001c0001t0025others(8): Show | a0001c0001t0005g0020a0001c0001t0009g0006a0001c0001t0009g0008others(9): Show | 12 | 76 | 0.1579 | -7 | c.690 others(26): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AUTS2_chr7_69593475_70798506 | 70724443 | CTTTTTTT | C | intron_variant | MODIFIER | HG01433.hp1 HG02630.hp1 HG03453.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0020a0001c0001t0025 | a0001c0001t0001g0030a0001c0001t0001g0073a0001c0001t0020g0029others(1): Show | 4 | 76 | 0.0526 | -7 | c.742 others(26): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AUTS2_chr7_69593475_70798506 | 70739003 | CTTTTTTT | C | intron_variant | MODIFIER | HG01952.hp2 HG02257.hp2 HG02258.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0001g0074a0001c0001t0005g0005a0001c0001t0006g0010others(2): Show | 5 | 76 | 0.0658 | -7 | c.743 others(26): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AVEN_chr15_33861227_34044204 | 33878454 | TAGGCTAG | T | intron_variant | MODIFIER | HG01081.hp2 HG01346.hp1 HG02258.hp1 others(9): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0004 | a0001c0001t0001a0003c0003t0003a0004c0004t0001 | a0001c0001t0001g0031a0001c0001t0001g0128a0001c0001t0001g0131others(9): Show | 12 | 266 | 0.0451 | -7 | c.446 others(24): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | ||||||
AVEN_chr15_33861227_34044204 | 33899460 | CTTTTTTT | C | intron_variant | MODIFIER | HG00558.hp1 HG01070.hp2 HG01071.hp1 others(14): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0003a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0003c0003t0003others(2): Show | a0001c0001t0001g0031a0001c0001t0001g0129a0001c0001t0001g0137others(14): Show | 17 | 266 | 0.0639 | -7 | c.446 others(26): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | ||||||
AVEN_chr15_33861227_34044204 | 33962919 | CAAAAAAA | C | intron_variant | MODIFIER | HG01081.hp2 HG02109.hp1 HG02559.hp1 others(5): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0001g0132a0001c0001t0001g0139a0001c0001t0001g0140others(5): Show | 8 | 266 | 0.0301 | -7 | c.445 others(26): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | ||||||
AVEN_chr15_33861227_34044204 | 33968099 | TAAAAAAA | T | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01884.hp2 others(4): Show |
a0001a0007 | a0001c0001a0007c0005 | a0001c0001t0001a0007c0005t0007 | a0001c0001t0001g0137a0001c0001t0001g0138a0001c0001t0001g0144others(4): Show | 7 | 266 | 0.0263 | -7 | c.445 others(26): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar |