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 | 115738126 | ATTTTT | A | intron_variant | MODIFIER | HG00639.hp1 HG01081.hp2 HG01515.hp2 others(9): Show |
a0001 | a0001c0001a0001c0003a0001c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0065a0001c0001t0001g0124a0001c0001t0002g0077others(9): Show | 12 | 128 | 0.0938 | -5 | c.390 others(26): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115760328 | GATGAC | G | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp2 HG00738.hp2 others(17): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0008 | a0001c0001t0002a0001c0001t0008a0001c0001t0013others(11): Show | a0001c0001t0002g0015a0001c0001t0002g0111a0001c0001t0002g0113others(17): Show | 20 | 128 | 0.1563 | -5 | c.390 others(26): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115774425 | CAAAAA | C | intron_variant | MODIFIER | HG00738.hp1 HG01071.hp2 HG01258.hp2 others(35): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0055a0001c0001t0001g0068a0001c0001t0001g0069others(35): Show | 38 | 128 | 0.2969 | -5 | c.390 others(26): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115828322 | AAAAAG | A | intron_variant | MODIFIER | HG02280.hp1 HG02572.hp2 HG02630.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0006a0001c0007others(2): Show | a0001c0001t0007a0001c0001t0008a0001c0006t0013others(3): Show | a0001c0001t0007g0027a0001c0001t0008g0014a0001c0006t0013g0029others(3): Show | 6 | 128 | 0.0469 | -5 | c.390 others(26): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115839514 | CCAATA | C | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG02622.hp2 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0019a0001c0001t0020others(2): Show | a0001c0001t0002g0113a0001c0001t0002g0114a0001c0001t0019g0020others(3): Show | 6 | 128 | 0.0469 | -5 | c.390 others(24): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115869964 | CTTTTT | C | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00738.hp1 others(49): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0036a0001c0001t0001g0068a0001c0001t0001g0069others(49): Show | 52 | 128 | 0.4063 | -5 | c.401 others(26): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 28/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115952722 | ATACTT | A | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01891.hp1 HG02145.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0008 | a0001c0001t0002a0001c0001t0008a0001c0001t0010others(7): Show | a0001c0001t0002g0111a0001c0001t0002g0113a0001c0001t0008g0023others(8): Show | 11 | 128 | 0.0859 | -5 | c.*79 others(16): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 3724 | chr10 | TogoVar | ||||||
ATRN_chr20_3466018_3656118 | 3486380 | TTTTCC | T | intron_variant | MODIFIER | HG00140.hp2 HG00733.hp2 HG00735.hp1 others(45): Show |
a0001a0002a0005others(4): Show | a0001c0003a0001c0005a0001c0006others(9): Show | a0001c0003t0002a0001c0003t0005a0001c0003t0007others(22): Show | a0001c0003t0002g0214a0001c0003t0002g0215a0001c0003t0002g0216others(45): Show | 48 | 220 | 0.2182 | -5 | c.410 others(24): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ATRN_chr20_3466018_3656118 | 3519737 | TGAAAA | T | intron_variant | MODIFIER | HG00741.hp1 HG01109.hp1 HG01243.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0018a0001c0002t0006g0049a0001c0002t0006g0050others(3): Show | 6 | 220 | 0.0273 | -5 | c.411 others(24): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ATRN_chr20_3466018_3656118 | 3528712 | CTAAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00733.hp2 HG00735.hp1 others(45): Show |
a0001a0002a0005others(4): Show | a0001c0003a0001c0005a0001c0006others(9): Show | a0001c0003t0002a0001c0003t0005a0001c0003t0007others(22): Show | a0001c0003t0002g0214a0001c0003t0002g0215a0001c0003t0002g0216others(45): Show | 48 | 220 | 0.2182 | -5 | c.411 others(22): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ATRN_chr20_3466018_3656118 | 3565796 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(161): Show |
a0001a0004a0006others(7): Show | a0001c0001a0001c0002a0001c0007others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(44): Show | a0001c0001t0001g0003a0001c0001t0001g0013a0001c0001t0001g0016others(161): Show | 164 | 220 | 0.7455 | -5 | c.187 others(22): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 11/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ATRN_chr20_3466018_3656118 | 3596712 | AACTTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(165): Show |
a0001a0004a0006others(7): Show | a0001c0001a0001c0002a0001c0007others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(45): Show | a0001c0001t0001g0003a0001c0001t0001g0013a0001c0001t0001g0014others(165): Show | 168 | 220 | 0.7636 | -5 | c.346 others(22): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 21/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ATRN_chr20_3466018_3656118 | 3620219 | AGTTTT | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(43): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0005a0001c0001t0015a0001c0001t0023others(20): Show | a0001c0001t0005g0056a0001c0001t0005g0064a0001c0001t0005g0068others(43): Show | 46 | 220 | 0.2091 | -5 | c.380 others(24): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 24/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ATRN_chr20_3466018_3656118 | 3626397 | TAAAAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00738.hp2 others(107): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0010a0001c0001t0012a0001c0001t0014others(44): Show | a0001c0001t0010g0011a0001c0001t0010g0025a0001c0001t0010g0096others(107): Show | 110 | 220 | 0.5000 | -5 | c.386 others(24): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 25/28 | chr20 | TogoVar | ||||||
ATRN_chr20_3466018_3656118 | 3630916 | CTTTTT | C | intron_variant | MODIFIER | HG01081.hp2 HG01099.hp1 HG01169.hp2 others(9): Show |
a0001a0002a0009others(1): Show | a0001c0002a0001c0013a0002c0004others(2): Show | a0001c0002t0003a0001c0002t0004a0001c0013t0017others(4): Show | a0001c0002t0003g0037a0001c0002t0003g0058a0001c0002t0003g0084others(9): Show | 12 | 220 | 0.0546 | -5 | c.386 others(24): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 25/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ATRX_chrX_77499880_77791216 | 77549955 | AAAATG | A | intron_variant | MODIFIER | HG02602.hp1 HG02965.hp1 HG03239.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011 | a0001c0001t0003g0084a0001c0001t0003g0085a0001c0001t0003g0162others(3): Show | 6 | 218 | 0.0275 | -5 | c.669 others(24): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 30/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77585583 | CAAAAA | C | intron_variant | MODIFIER | NA18955.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0063 | 1 | 218 | 0.0046 | -5 | c.621 others(24): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 27/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77597502 | CAGAGT | C | intron_variant | MODIFIER | HG02280.hp2 | a0006 | a0006c0008 | a0006c0008t0003 | a0006c0008t0003g0203 | 1 | 218 | 0.0046 | -5 | c.595 others(24): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 25/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77600253 | CAATAA | C | intron_variant | MODIFIER | HG02273.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0035 | 1 | 218 | 0.0046 | -5 | c.569 others(22): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 23/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77651217 | CAAAAA | C | intron_variant | MODIFIER | HG02129.hp1 HG02559.hp2 HG02572.hp1 others(10): Show |
a0001 | a0001c0001a0001c0005a0001c0007 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(2): Show | a0001c0001t0002g0145a0001c0001t0002g0189a0001c0001t0005g0069others(10): Show | 13 | 218 | 0.0596 | -5 | c.455 others(22): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 15/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77671164 | AAAAAT | A | intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0112 | 1 | 218 | 0.0046 | -5 | c.380 others(24): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 10/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77678233 | AAAGAG | A | intron_variant | MODIFIER | HG00323.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0027 | 1 | 218 | 0.0046 | -5 | c.373 others(24): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 9/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77716110 | ATTTTT | A | intron_variant | MODIFIER | HG02257.hp2 HG02615.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0007 | a0001c0001t0003g0196a0001c0001t0006g0179a0001c0001t0007g0066 | 3 | 218 | 0.0138 | -5 | c.133 others(22): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 2/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77738547 | CTCTTT | C | intron_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0122 | 1 | 218 | 0.0046 | -5 | c.21- others(22): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 1/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77748530 | TAATTA | T | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0138 | 1 | 218 | 0.0046 | -5 | c.21- others(22): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 1/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77762346 | TAGAAG | T | intron_variant | MODIFIER | HG00558.hp1 HG02015.hp1 NA18962.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0018 | a0001c0001t0002g0142a0001c0001t0002g0189a0001c0001t0004g0185others(4): Show | 7 | 218 | 0.0321 | -5 | c.20+ others(22): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 1/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77774430 | CACTTT | C | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0076 | 1 | 218 | 0.0046 | -5 | c.20+ others(22): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 1/34 | chrX | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142496278 | CTATAT | C | intron_variant | MODIFIER | HG00738.hp2 HG01074.hp1 HG01255.hp1 others(6): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0092a0001c0001t0001g0103a0001c0001t0001g0106others(6): Show | 9 | 322 | 0.0280 | -5 | c.589 others(20): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 34/46 | chr3 | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142531234 | GTTTTA | G | intron_variant | MODIFIER | HG00673.hp1 HG00738.hp2 HG00741.hp1 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026a0001c0001t0001g0085a0001c0001t0001g0086others(38): Show | 41 | 322 | 0.1273 | -5 | c.394 others(24): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 21/46 | chr3 | TogoVar | ||||||
ATXN10_chr22_45666834_45850307 | 45685772 | CATATT | C | intron_variant | MODIFIER | HG02717.hp1 HG02976.hp1 HG03209.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0283a0001c0001t0001g0284a0001c0001t0001g0285others(1): Show | 4 | 316 | 0.0127 | -5 | c.117 others(22): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ATXN10_chr22_45666834_45850307 | 45735812 | CTTTTT | C | intron_variant | MODIFIER | HG01099.hp2 HG01109.hp2 HG01243.hp1 others(34): Show |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0061a0001c0001t0001g0062a0001c0001t0001g0064others(34): Show | 37 | 316 | 0.1171 | -5 | c.895 others(22): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ATXN10_chr22_45666834_45850307 | 45753377 | CTTTTT | C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00741.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0003a0001c0001t0001g0012a0001c0001t0001g0013others(13): Show | 16 | 316 | 0.0506 | -5 | c.117 others(26): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ATXN10_chr22_45666834_45850307 | 45795354 | GATTCT | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp1 others(56): Show |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0003a0001c0001t0001g0009a0001c0001t0001g0013others(56): Show | 59 | 316 | 0.1867 | -5 | c.117 others(26): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ATXN10_chr22_45666834_45850307 | 45819192 | AAATAG | A | intron_variant | MODIFIER | HG00140.hp2 HG01070.hp1 HG01071.hp1 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0074others(32): Show | 35 | 316 | 0.1108 | -5 | c.123 others(26): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ATXN10_chr22_45666834_45850307 | 45837114 | CATATA | C | intron_variant | MODIFIER | HG02572.hp1 HG02818.hp1 HG03540.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0130a0001c0001t0002g0131a0001c0001t0002g0132others(3): Show | 6 | 316 | 0.0190 | -5 | c.123 others(24): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ATXN1_chr6_16294112_16766460 | 16357232 | TTTTTA | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(145): Show |
a0001a0002a0003others(34): Show | a0001c0001a0001c0027a0001c0028others(51): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(91): Show | a0001c0001t0001g0037a0001c0001t0001g0043a0001c0001t0001g0045others(145): Show | 148 | 182 | 0.8132 | -5 | c.-16 others(26): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16402242 | GTTTTT | G | intron_variant | MODIFIER | HG00735.hp1 HG01109.hp2 HG01261.hp2 others(3): Show |
a0002a0007a0010others(3): Show | a0002c0002a0007c0009a0010c0010others(3): Show | a0002c0002t0001a0007c0009t0002a0010c0010t0006others(3): Show | a0002c0002t0001g0071a0007c0009t0002g0164a0010c0010t0006g0008others(3): Show | 6 | 182 | 0.0330 | -5 | c.-16 others(26): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16492543 | TAATAC | T | intron_variant | MODIFIER | HG03098.hp2 HG03453.hp2 |
a0002a0007 | a0002c0004a0007c0009 | a0002c0004t0001a0007c0009t0002 | a0002c0004t0001g0182a0007c0009t0002g0126 | 2 | 182 | 0.0110 | -5 | c.-29 others(24): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 5/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16562453 | AAGGAG | A | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00438.hp1 others(47): Show |
a0001a0002a0003others(12): Show | a0001c0001a0002c0002a0002c0004others(19): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0003others(33): Show | a0001c0001t0001g0043a0001c0001t0001g0105a0001c0001t0001g0123others(47): Show | 50 | 182 | 0.2747 | -5 | c.-36 others(26): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16562483 | GAGGAA | G | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(57): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0027a0002c0002others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(34): Show | a0001c0001t0001g0037a0001c0001t0001g0103a0001c0001t0001g0178others(57): Show | 60 | 182 | 0.3297 | -5 | c.-36 others(26): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16606177 | TAACTC | T | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(131): Show |
a0001a0002a0003others(28): Show | a0001c0001a0001c0027a0001c0029others(46): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(78): Show | a0001c0001t0001g0037a0001c0001t0001g0043a0001c0001t0001g0045others(131): Show | 134 | 182 | 0.7363 | -5 | c.-48 others(26): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16668808 | ATTTAC | A | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02486.hp2 others(2): Show |
a0001a0005a0006others(2): Show | a0001c0001a0005c0006a0006c0008others(2): Show | a0001c0001t0020a0005c0006t0003a0006c0008t0040others(2): Show | a0001c0001t0020g0002a0005c0006t0003g0070a0006c0008t0040g0154others(2): Show | 5 | 182 | 0.0275 | -5 | c.-61 others(26): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16714188 | CACACA | C | intron_variant | MODIFIER | HG01243.hp2 HG02257.hp1 HG02280.hp2 others(9): Show |
a0001a0003a0005others(5): Show | a0001c0027a0001c0029a0003c0003others(7): Show | a0001c0027t0001a0001c0029t0048a0003c0003t0009others(8): Show | a0001c0027t0001g0024a0001c0029t0048g0031a0003c0003t0009g0055others(9): Show | 12 | 182 | 0.0659 | -5 | c.-61 others(26): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
ATXN2L_chr16_28817999_28842232 | 28819391 | CTTTTT | C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00423.hp1 others(80): Show |
a0000a0001a0004others(1): Show | a0000c0019a0001c0001a0001c0007others(3): Show | a0000c0019t0010a0001c0001t0001a0001c0001t0002others(8): Show | a0000c0019t0010g0059a0001c0001t0001g0001a0001c0001t0001g0009others(28): Show | 83 | 382 | 0.2173 | -5 | c.-38 others(16): Show |
ATXN2L | ENSG00000168488.19 | transcript | ENST00000336783.9 | protein_coding | 3607 | chr16 | TogoVar | ||||||
ATXN2L_chr16_28817999_28842232 | 28822934 | GGCCCC | G | upstream_gene_variant | MODIFIER | HG00639.hp1 HG01074.hp2 HG01192.hp1 others(16): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0009 | a0001c0001t0001a0001c0002t0001a0003c0009t0001 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0020others(6): Show | 19 | 382 | 0.0497 | -5 | c.-32 others(14): Show |
ATXN2L | ENSG00000168488.19 | transcript | ENST00000336783.9 | protein_coding | 64 | chr16 | TogoVar | ||||||
ATXN2L_chr16_28817999_28842232 | 28840459 | CTTTTT | C | downstream_gene_variant | MODIFIER | HG00673.hp1 NA18961.hp2 NA18971.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0034others(1): Show | 10 | 382 | 0.0262 | -5 | c.*41 others(16): Show |
ATXN2L | ENSG00000168488.19 | transcript | ENST00000336783.9 | protein_coding | 3228 | chr16 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111447547 | ATGGGG | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(196): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0003a0001c0012others(24): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(33): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009others(196): Show | 199 | 298 | 0.6678 | -5 | c.*52 others(16): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 4666 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111568991 | TTTTTG | T | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(234): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0003a0001c0008others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0002g0222others(234): Show | 237 | 298 | 0.7953 | -5 | c.252 others(24): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111576085 | AATAAC | A | intron_variant | MODIFIER | HG01071.hp2 HG01081.hp2 HG01243.hp1 others(24): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0005others(1): Show | a0001c0001t0002a0001c0003t0001a0003c0005t0001others(1): Show | a0001c0001t0002g0218a0001c0001t0002g0219a0001c0001t0002g0222others(24): Show | 27 | 298 | 0.0906 | -5 | c.252 others(24): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111584377 | CAAAAA | C | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(83): Show |
a0002a0003a0005others(6): Show | a0002c0002a0002c0016a0003c0004others(9): Show | a0002c0002t0001a0002c0002t0003a0002c0016t0001others(11): Show | a0002c0002t0001g0005a0002c0002t0001g0006a0002c0002t0001g0010others(83): Show | 86 | 298 | 0.2886 | -5 | c.251 others(24): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar |