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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATXN1_chr6_16294112_16766460 | 16689520 | T | TTTC | intron_variant | MODIFIER | HG00423.hp2 HG00642.hp1 HG01074.hp1 others(24): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0008a0001c0010others(13): Show | a0001c0001t0001a0001c0001t0030a0001c0008t0001others(21): Show | a0001c0001t0001g0105 a0001c0001t0030g0021 a0001c0008t0001g0009 others(24): Show |
27 | 180 | 0.1500 | 3 | c.-61 others(24): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16706736 | A | AAAC | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00423.hp1 others(125): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0008a0001c0010others(28): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(74): Show | a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0045 others(125): Show |
128 | 150 | 0.8533 | 3 | c.-61 others(24): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16723216 | C | CCTT | intron_variant | MODIFIER | HG01243.hp2 HG02257.hp1 HG02280.hp2 others(7): Show |
a0001a0002 | a0001c0012a0001c0019a0001c0033others(4): Show | a0001c0012t0048a0001c0019t0001a0001c0033t0001others(6): Show | a0001c0012t0048g0031 a0001c0019t0001g0024 a0001c0033t0001g0012 others(7): Show |
10 | 180 | 0.0556 | 3 | c.-61 others(24): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16731454 | C | CTTT | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00609.hp2 others(21): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0010a0002c0003others(9): Show | a0001c0001t0001a0001c0001t0044a0001c0010t0004others(15): Show | a0001c0001t0001g0123 a0001c0001t0001g0178 a0001c0001t0044g0118 others(21): Show |
24 | 69 | 0.3478 | 3 | c.-61 others(24): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16752909 | T | TAGC | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG02055.hp2 others(18): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0010a0002c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(16): Show | a0001c0001t0001g0083 a0001c0001t0001g0103 a0001c0001t0002g0076 others(18): Show |
21 | 180 | 0.1167 | 3 | c.-61 others(20): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16759530 | G | GTTT | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00597.hp1 others(18): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0010a0001c0041others(8): Show | a0001c0001t0002a0001c0010t0004a0001c0041t0036others(13): Show | a0001c0001t0002g0020 a0001c0010t0004g0086 a0001c0041t0036g0095 others(18): Show |
21 | 94 | 0.2234 | 3 | c.-73 others(22): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16761484 | T | TCTC | upstream_gene_variant | MODIFIER | HG00642.hp1 HG01168.hp2 HG01496.hp1 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0008a0001c0010others(3): Show | a0001c0001t0030a0001c0008t0046a0001c0010t0023others(3): Show | a0001c0001t0030g0021 a0001c0008t0046g0062 a0001c0010t0023g0023 others(3): Show |
6 | 171 | 0.0351 | 3 | c.-91 others(12): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 25 | chr6 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111464247 | G | GTGT | intron_variant | MODIFIER | HG02145.hp2 HG04204.hp2 NA18985.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0037 a0002c0002t0001g0047 a0002c0002t0001g0087 others(2): Show |
5 | 88 | 0.0568 | 3 | c.289 others(20): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111465767 | C | CAAA | intron_variant | MODIFIER | HG01361.hp2 HG02071.hp1 HG02132.hp1 others(17): Show |
a0001a0003 | a0001c0003a0001c0010a0003c0005 | a0001c0003t0001a0001c0003t0003a0001c0010t0001others(1): Show | a0001c0003t0001g0140 a0001c0003t0001g0141 a0001c0003t0001g0142 others(17): Show |
20 | 103 | 0.1942 | 3 | c.284 others(22): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111467307 | C | CTTT | intron_variant | MODIFIER | HG01168.hp2 HG01361.hp2 HG02071.hp1 others(14): Show |
a0001a0003a0006others(1): Show | a0001c0003a0001c0010a0003c0004others(4): Show | a0001c0003t0001a0001c0010t0001a0003c0004t0003others(4): Show | a0001c0003t0001g0180 a0001c0003t0001g0191 a0001c0003t0001g0194 others(14): Show |
17 | 87 | 0.1954 | 3 | c.284 others(22): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111468696 | C | CTTT | intron_variant | MODIFIER | HG01169.hp2 HG01243.hp2 HG01943.hp2 others(39): Show |
a0001a0003a0006others(4): Show | a0001c0001a0001c0003a0003c0004others(8): Show | a0001c0001t0003a0001c0003t0001a0003c0004t0003others(9): Show | a0001c0001t0003g0029 a0001c0003t0001g0139 a0001c0003t0001g0146 others(39): Show |
42 | 142 | 0.2958 | 3 | c.284 others(22): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111483410 | C | CAAA | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(75): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0007others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(11): Show | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 others(75): Show |
78 | 237 | 0.3291 | 3 | c.252 others(22): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111493418 | C | CAAA | intron_variant | MODIFIER | HG02027.hp2 HG02135.hp2 HG02145.hp1 others(10): Show |
a0001a0003 | a0001c0003a0001c0007a0003c0005 | a0001c0003t0001a0001c0003t0003a0001c0007t0007others(2): Show | a0001c0003t0001g0140 a0001c0003t0001g0151 a0001c0003t0001g0156 others(10): Show |
13 | 158 | 0.0823 | 3 | c.193 others(22): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111495308 | C | CAAA | intron_variant | MODIFIER | HG01928.hp1 HG01952.hp1 HG02132.hp2 others(5): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0001a0002c0002t0001a0002c0002t0003 | a0001c0003t0001g0144 a0002c0002t0001g0036 a0002c0002t0001g0067 others(5): Show |
8 | 193 | 0.0415 | 3 | c.193 others(22): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111535999 | C | CAAA | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(30): Show |
a0003a0004a0005others(4): Show | a0003c0004a0003c0005a0003c0006others(7): Show | a0003c0004t0003a0003c0004t0005a0003c0004t0008others(9): Show | a0003c0004t0003g0015 a0003c0004t0003g0016 a0003c0004t0003g0017 others(30): Show |
33 | 277 | 0.1191 | 3 | c.572 others(22): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111537582 | C | CAAA | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
a0003a0004a0005others(5): Show | a0003c0004a0003c0005a0003c0006others(8): Show | a0003c0004t0003a0003c0004t0005a0003c0004t0008others(10): Show | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | 295 | 0.1390 | 3 | c.572 others(22): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111553600 | A | ATTT | intron_variant | MODIFIER | HG01884.hp2 HG02451.hp1 HG02559.hp2 others(2): Show |
a0002a0005 | a0002c0002a0005c0021 | a0002c0002t0001a0002c0002t0003a0005c0021t0001 | a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 others(2): Show |
5 | 250 | 0.0200 | 3 | c.348 others(18): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111572011 | C | CAAA | intron_variant | MODIFIER | HG00099.hp1 HG00597.hp2 HG00642.hp2 others(74): Show |
a0001a0003a0007others(2): Show | a0001c0001a0001c0003a0001c0007others(6): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0003others(8): Show | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0003t0001g0139 others(74): Show |
77 | 279 | 0.2760 | 3 | c.252 others(22): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111582351 | C | CAGA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(292): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0003a0001c0007others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0002g0217 others(292): Show |
295 | 296 | 0.9966 | 3 | c.251 others(22): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111584377 | C | CAAA | intron_variant | MODIFIER | HG00099.hp2 HG01081.hp2 HG01169.hp1 others(26): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0019others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0002g0217 a0001c0001t0002g0219 a0001c0001t0002g0222 others(26): Show |
29 | 48 | 0.6042 | 3 | c.251 others(22): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111588991 | C | CAAA | intron_variant | MODIFIER | HG01071.hp2 HG01168.hp1 HG01256.hp2 others(25): Show |
a0001a0002a0008 | a0001c0001a0001c0003a0001c0019others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0003t0003others(3): Show | a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0224 others(25): Show |
28 | 51 | 0.5490 | 3 | c.251 others(20): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111591756 | T | TTTG | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(81): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0002a0001c0003t0001a0002c0002t0001others(5): Show | a0001c0001t0002g0238 a0001c0003t0001g0181 a0001c0003t0001g0185 others(81): Show |
84 | 295 | 0.2847 | 3 | c.251 others(20): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111592782 | C | CAAA | intron_variant | MODIFIER | HG01993.hp2 HG03492.hp1 HG03710.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0226 a0001c0001t0004g0227 a0001c0001t0004g0240 others(7): Show |
10 | 87 | 0.1149 | 3 | c.251 others(20): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111598993 | C | CTGT | disruptive_inframe_insertion | MODERATE | HG01168.hp2 HG01169.hp2 HG02055.hp2 others(11): Show |
a0003a0006 | a0003c0006a0006c0009 | a0003c0006t0003a0006c0009t0003 | a0003c0006t0003g0107 a0003c0006t0003g0108 a0003c0006t0003g0109 others(11): Show |
14 | 110 | 0.1273 | 3 | c.41_ others(8): Show |
p.Gln others(5): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/25 | 322/4347 | 41/3468 | 14/1155 | chr12 | TogoVar | |||
ATXN2_chr12_111447214_111604315 | 111600434 | C | CTTT | upstream_gene_variant | MODIFIER | HG02970.hp1 HG03098.hp2 HG03471.hp2 others(3): Show |
a0003a0011 | a0003c0004a0011c0013 | a0003c0004t0003a0003c0004t0005a0011c0013t0005 | a0003c0004t0003g0015 a0003c0004t0003g0016 a0003c0004t0003g0017 others(3): Show |
6 | 168 | 0.0357 | 3 | c.-14 others(14): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1120 | chr12 | TogoVar | |||||||
ATXN3_chr14_92053552_92111582 | 92057412 | A | AAAC | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp1 others(141): Show |
a0003a0004a0005others(27): Show | a0003c0026a0004c0003a0005c0006others(38): Show | a0003c0026t0017a0004c0003t0001a0004c0003t0020others(54): Show | a0003c0026t0017g0020 a0003c0026t0017g0021 a0003c0026t0017g0022 others(137): Show |
144 | 400 | 0.3600 | 3 | c.*69 others(14): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 1139 | chr14 | TogoVar | |||||||
ATXN3_chr14_92053552_92111582 | 92060266 | A | ATTT | 3_prime_UTR_variant | MODIFIER | HG03195.hp1 HG03225.hp1 NA19000.hp2 others(1): Show |
a0026a0029a0031 | a0026c0034a0026c0045a0029c0036others(1): Show | a0026c0034t0001a0026c0045t0021a0029c0036t0044others(1): Show | a0026c0034t0001g0283 a0026c0045t0021g0191 a0029c0036t0044g0125 others(1): Show |
4 | 379 | 0.0106 | 3 | c.*40 others(14): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 11/11 | 4053 | chr14 | TogoVar | ||||||
ATXN3_chr14_92053552_92111582 | 92060268 | A | ATTT | 3_prime_UTR_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG01169.hp2 others(10): Show |
a0004a0009a0014others(7): Show | a0004c0003a0009c0009a0014c0019others(7): Show | a0004c0003t0001a0009c0009t0001a0014c0019t0008others(7): Show | a0004c0003t0001g0313 a0009c0009t0001g0151 a0014c0019t0008g0160 others(10): Show |
13 | 293 | 0.0444 | 3 | c.*40 others(14): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 11/11 | 4051 | chr14 | TogoVar | ||||||
ATXN3_chr14_92053552_92111582 | 92060270 | A | ATTT | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG01070.hp1 HG01358.hp1 others(5): Show |
a0002a0014a0017others(1): Show | a0002c0007a0014c0019a0017c0015others(1): Show | a0002c0007t0004a0014c0019t0008a0014c0019t0021others(2): Show | a0002c0007t0004g0010 a0002c0007t0004g0329 a0014c0019t0008g0158 others(4): Show |
8 | 119 | 0.0672 | 3 | c.*40 others(14): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 11/11 | 4049 | chr14 | TogoVar | ||||||
ATXN3_chr14_92053552_92111582 | 92066093 | A | AAAT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp1 others(112): Show |
a0004a0006a0008others(20): Show | a0004c0003a0006c0005a0006c0051others(28): Show | a0004c0003t0001a0004c0003t0020a0004c0003t0045others(38): Show | a0004c0003t0001g0003 a0004c0003t0001g0039 a0004c0003t0001g0044 others(109): Show |
115 | 400 | 0.2875 | 3 | c.992 others(20): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 10/10 | chr14 | TogoVar | |||||||
ATXN3_chr14_92053552_92111582 | 92066097 | A | AAAT | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01109.hp1 others(22): Show |
a0003a0006a0009others(9): Show | a0003c0026a0006c0052a0009c0037others(9): Show | a0003c0026t0017a0006c0052t0011a0009c0037t0011others(11): Show | a0003c0026t0017g0020 a0003c0026t0017g0021 a0003c0026t0017g0022 others(22): Show |
25 | 285 | 0.0877 | 3 | c.992 others(20): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 10/10 | chr14 | TogoVar | |||||||
ATXN3_chr14_92053552_92111582 | 92066774 | A | ATTT | intron_variant | MODIFIER | HG02145.hp1 HG02486.hp1 HG06807.hp2 others(3): Show |
a0004a0014a0021others(1): Show | a0004c0003a0014c0021a0021c0027others(1): Show | a0004c0003t0045a0014c0021t0001a0021c0027t0015others(1): Show | a0004c0003t0045g0105 a0014c0021t0001g0014 a0021c0027t0015g0377 others(2): Show |
6 | 197 | 0.0305 | 3 | c.992 others(20): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 10/10 | chr14 | TogoVar | |||||||
ATXN3_chr14_92053552_92111582 | 92095099 | T | TAAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp1 others(124): Show |
a0004a0006a0008others(22): Show | a0004c0003a0006c0005a0006c0051others(32): Show | a0004c0003t0001a0004c0003t0002a0004c0003t0020others(47): Show | a0004c0003t0001g0003 a0004c0003t0001g0039 a0004c0003t0001g0044 others(120): Show |
127 | 350 | 0.3629 | 3 | c.234 others(18): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 3/10 | chr14 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105604255 | C | CAAA | downstream_gene_variant | MODIFIER | HG01257.hp2 HG01978.hp1 HG02572.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0025a0001c0001t0027others(1): Show | a0001c0001t0008g0094 a0001c0001t0025g0072 a0001c0001t0025g0215 others(2): Show |
5 | 81 | 0.0617 | 3 | c.*35 others(14): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 516 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105619531 | T | TATA | intron_variant | MODIFIER | HG02056.hp2 HG02135.hp2 HG03490.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004a0001c0012 | a0001c0001t0002a0001c0001t0007a0001c0001t0055others(2): Show | a0001c0001t0002g0214 a0001c0001t0007g0001 a0001c0001t0055g0098 others(2): Show |
5 | 226 | 0.0221 | 3 | c.151 others(20): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 9/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105624649 | C | CAAA | intron_variant | MODIFIER | HG01168.hp2 HG02559.hp1 HG03098.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0075 others(7): Show |
10 | 18 | 0.5556 | 3 | c.120 others(20): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 7/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105641212 | C | CTTT | intron_variant | MODIFIER | HG02451.hp1 HG02559.hp2 HG03540.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007a0001c0001t0010others(1): Show | a0001c0001t0004g0135 a0001c0001t0007g0117 a0001c0001t0007g0196 others(2): Show |
5 | 194 | 0.0258 | 3 | c.862 others(20): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 5/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105646770 | C | CAAA | intron_variant | MODIFIER | HG02559.hp2 HG02572.hp2 HG02723.hp1 others(14): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0010 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(8): Show | a0001c0001t0001g0217 a0001c0001t0004g0135 a0001c0001t0004g0137 others(14): Show |
17 | 89 | 0.1910 | 3 | c.579 others(20): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 4/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105648926 | A | ATTT | intron_variant | MODIFIER | HG02559.hp2 HG02572.hp2 HG02723.hp1 others(14): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0010 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(8): Show | a0001c0001t0001g0217 a0001c0001t0004g0135 a0001c0001t0004g0137 others(14): Show |
17 | 250 | 0.0680 | 3 | c.579 others(20): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 4/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105657702 | C | CAAA | intron_variant | MODIFIER | HG01167.hp1 HG01243.hp1 HG02055.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0012others(6): Show | a0001c0001t0001g0155 a0001c0001t0001g0217 a0001c0001t0001g0218 others(10): Show |
13 | 162 | 0.0802 | 3 | c.578 others(20): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 4/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105685044 | G | GATA | intron_variant | MODIFIER | HG00323.hp2 HG00738.hp1 HG00741.hp2 others(45): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0006c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0006 a0001c0001t0001g0030 a0001c0001t0001g0043 others(45): Show |
48 | 88 | 0.5455 | 3 | c.356 others(22): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105704585 | T | TCTC | intron_variant | MODIFIER | HG01256.hp2 HG01258.hp2 HG01496.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0235 a0001c0001t0001g0241 a0001c0001t0001g0242 others(1): Show |
4 | 248 | 0.0161 | 3 | c.356 others(22): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105709877 | C | CTTT | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 HG02572.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(2): Show | a0001c0001t0001g0202 a0001c0001t0004g0203 a0001c0001t0008g0058 others(2): Show |
5 | 201 | 0.0249 | 3 | c.356 others(22): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105771201 | G | GATA | intron_variant | MODIFIER | HG00558.hp2 HG00735.hp1 HG00735.hp2 others(64): Show |
a0001a0002a0003 | a0001c0001a0001c0007a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0030 others(64): Show |
67 | 86 | 0.7791 | 3 | c.355 others(22): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105778510 | C | CAAA | intron_variant | MODIFIER | HG02572.hp1 HG03209.hp2 HG03239.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0010a0001c0001t0011others(3): Show | a0001c0001t0009g0013 a0001c0001t0010g0095 a0001c0001t0011g0169 others(3): Show |
6 | 177 | 0.0339 | 3 | c.355 others(22): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105778525 | A | AAAC | intron_variant | MODIFIER | HG01243.hp1 HG02280.hp2 HG02451.hp1 others(19): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0075 a0001c0001t0001g0218 a0001c0001t0001g0223 others(19): Show |
22 | 222 | 0.0991 | 3 | c.355 others(22): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105790647 | T | TATC | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02055.hp1 others(6): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0045 a0001c0001t0002g0145 a0001c0001t0003g0056 others(6): Show |
9 | 250 | 0.0360 | 3 | c.251 others(20): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105835149 | G | GTTT | intron_variant | MODIFIER | HG01256.hp1 HG02559.hp2 HG02895.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(3): Show | a0001c0001t0001g0144 a0001c0001t0001g0155 a0001c0001t0001g0218 others(6): Show |
9 | 15 | 0.6000 | 3 | c.250 others(22): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105845204 | C | CAAA | intron_variant | MODIFIER | HG00738.hp2 HG01069.hp1 HG01169.hp2 others(21): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0119 a0001c0001t0001g0129 a0001c0001t0001g0150 others(21): Show |
24 | 58 | 0.4138 | 3 | c.250 others(22): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105864456 | C | CAAA | intron_variant | MODIFIER | HG00642.hp1 HG02145.hp2 HG02602.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0011 a0001c0001t0001g0086 a0001c0001t0002g0009 others(5): Show |
8 | 51 | 0.1569 | 3 | c.250 others(22): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar |