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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP9B_chr18_79064394_79383283 | 79296923 | C | CAGAGAGA others(17): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0039 | a0001c0039t0002 | a0001c0039t0002g0266 | 1 | 296 | 0.0034 | 24 | c.141 others(43): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 13/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATPAF2_chr17_18013021_18044168 | 18019147 | C | CCACACAC others(17): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02165.hp2 HG03491.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 a0001c0001t0001g0139 a0001c0001t0001g0206 others(1): Show |
4 | 29 | 0.1379 | 24 | c.733 others(39): Show |
ATPAF2 | ENSG00000171953.16 | transcript | ENST00000474627.8 | protein_coding | 7/7 | chr17 | TogoVar | |||||||
ATRNL1_chr10_115088365_115953999 | 115381432 | A | ATTTTTTT others(17): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01891.hp1 HG03486.hp2 |
a0001 | a0001c0001a0001c0011 | a0001c0001t0002a0001c0011t0002 | a0001c0001t0002g0113 a0001c0001t0002g0116 a0001c0011t0002g0118 |
3 | 36 | 0.0833 | 24 | c.317 others(45): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 19/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115389550 | A | ATATATGT others(17): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0006 | a0001c0006t0033 | a0001c0006t0033g0035 | 1 | 122 | 0.0082 | 24 | c.317 others(43): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 19/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115442303 | C | CTCTCTCT others(17): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01258.hp2 HG03195.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0014a0001c0002t0001a0001c0002t0005 | a0001c0001t0014g0001 a0001c0002t0001g0046 a0001c0002t0005g0044 |
3 | 87 | 0.0345 | 24 | c.332 others(45): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 21/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115442303 | C | CTCTCTCT others(17): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0127 | 1 | 85 | 0.0118 | 24 | c.332 others(45): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 21/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115528037 | T | TCTTCCTT others(17): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 |
a0002 | a0002c0004 | a0002c0004t0012 | a0002c0004t0012g0025 a0002c0004t0012g0026 |
2 | 79 | 0.0253 | 24 | c.371 others(43): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 25/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115598348 | A | AATTTATT others(17): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01891.hp1 HG02622.hp2 others(7): Show |
a0001 | a0001c0001a0001c0005a0001c0013 | a0001c0001t0002a0001c0001t0010a0001c0001t0015others(6): Show | a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0010g0033 others(7): Show |
10 | 64 | 0.1563 | 24 | c.379 others(45): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115621276 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0003 | a0001c0003t0037 | a0001c0003t0037g0075 | 1 | 80 | 0.0125 | 24 | c.379 others(45): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115738154 | T | TTTTTTTT others(17): Show |
intron_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 90 | 0.0111 | 24 | c.390 others(45): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115856428 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02896.hp2 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0042 | a0001c0001t0010g0017 a0001c0001t0042g0099 |
2 | 8 | 0.2500 | 24 | c.401 others(43): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 28/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115871473 | G | GTATATAT others(17): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0018 | 1 | 109 | 0.0092 | 24 | c.401 others(45): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 28/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRN_chr20_3466018_3656118 | 3576695 | G | GTCTGTCT others(17): Show |
intron_variant | MODIFIER | HG00621.hp2 HG03490.hp1 NA18961.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0027 a0001c0001t0001g0070 |
3 | 37 | 0.0811 | 24 | c.221 others(41): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ATRN_chr20_3466018_3656118 | 3576695 | G | GTCTGTCT others(17): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02922.hp2 HG02965.hp2 others(3): Show |
a0001a0004a0009 | a0001c0001a0004c0016a0009c0030others(1): Show | a0001c0001t0001a0001c0001t0002a0004c0016t0013others(2): Show | a0001c0001t0001g0039 a0001c0001t0002g0002 a0001c0001t0002g0041 others(3): Show |
6 | 40 | 0.1500 | 24 | c.221 others(41): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ATRN_chr20_3466018_3656118 | 3597071 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG00733.hp1 HG00735.hp2 HG00741.hp1 others(6): Show |
a0001a0011 | a0001c0001a0001c0002a0011c0028 | a0001c0001t0001a0001c0001t0013a0001c0002t0006others(1): Show | a0001c0001t0001g0042 a0001c0001t0001g0071 a0001c0001t0001g0072 others(6): Show |
9 | 60 | 0.1500 | 24 | c.346 others(41): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 21/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77556211 | A | AAGGGAGA others(17): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02602.hp1 HG02723.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(1): Show | a0001c0001t0001g0084 a0001c0001t0001g0197 a0001c0001t0003g0162 others(5): Show |
8 | 95 | 0.0842 | 24 | c.669 others(43): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 30/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77585583 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | NA19001.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0184 | 1 | 11 | 0.0909 | 24 | c.621 others(43): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 27/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77651217 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG00609.hp1 NA19055.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0093 a0001c0001t0002g0136 |
2 | 18 | 0.1111 | 24 | c.455 others(41): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 15/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77790990 | C | CTATAAAT others(17): Show |
upstream_gene_variant | MODIFIER | HG02717.hp1 NA19030.hp2 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0007a0001c0009t0006 | a0001c0001t0007g0065 a0001c0009t0006g0195 |
2 | 86 | 0.0233 | 24 | c.-49 others(35): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 4775 | chrX | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142496310 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02622.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0146 a0001c0004t0001g0310 |
2 | 320 | 0.0063 | 24 | c.589 others(39): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 34/46 | chr3 | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142516983 | T | TTATATAT others(17): Show |
intron_variant | MODIFIER | HG01891.hp1 HG03579.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0315 a0001c0004t0001g0317 |
2 | 317 | 0.0063 | 24 | c.438 others(43): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 24/46 | chr3 | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142516984 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | HG01496.hp2 HG03017.hp1 NA19009.hp1 |
a0001 | a0001c0004a0001c0008 | a0001c0004t0001a0001c0008t0001 | a0001c0004t0001g0027 a0001c0004t0001g0152 a0001c0008t0001g0196 |
3 | 154 | 0.0195 | 24 | c.438 others(43): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 24/46 | chr3 | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142528879 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0162 | 1 | 99 | 0.0101 | 24 | c.394 others(43): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 21/46 | chr3 | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142528879 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0012 | a0012c0021 | a0012c0021t0001 | a0012c0021t0001g0318 | 1 | 99 | 0.0101 | 24 | c.394 others(43): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 21/46 | chr3 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16526064 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0003 | a0003c0035 | a0003c0035t0001 | a0003c0035t0001g0115 | 1 | 109 | 0.0092 | 24 | c.-36 others(43): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16526064 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG01255.hp2 HG03130.hp2 |
a0001a0002 | a0001c0008a0002c0039 | a0001c0008t0002a0002c0039t0012 | a0001c0008t0002g0137 a0002c0039t0012g0030 |
2 | 110 | 0.0182 | 24 | c.-36 others(43): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16606867 | T | TTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG01168.hp2 others(11): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0010a0002c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0010t0004others(7): Show | a0001c0001t0001g0045 a0001c0001t0001g0105 a0001c0001t0001g0158 others(11): Show |
14 | 55 | 0.2545 | 24 | c.-48 others(45): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16730483 | G | GTATATAT others(17): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0011 | a0002c0011t0012 | a0002c0011t0012g0135 | 1 | 157 | 0.0064 | 24 | c.-61 others(45): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16730487 | G | GTGTATAT others(17): Show |
intron_variant | MODIFIER | HG01361.hp1 HG02004.hp1 HG02004.hp2 others(1): Show |
a0001a0003a0005 | a0001c0001a0001c0012a0003c0015others(1): Show | a0001c0001t0001a0001c0012t0039a0003c0015t0004others(1): Show | a0001c0001t0001g0045 a0001c0012t0039g0041 a0003c0015t0004g0044 others(1): Show |
4 | 48 | 0.0833 | 24 | c.-61 others(45): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
ATXN2L_chr16_28817999_28842232 | 28822980 | T | TCCTCCCT others(17): Show |
upstream_gene_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 380 | 0.0026 | 24 | c.-28 others(33): Show |
ATXN2L | ENSG00000168488.19 | transcript | ENST00000336783.9 | protein_coding | 18 | chr16 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111566332 | T | TGAGGCAG others(17): Show |
intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0181 | 1 | 296 | 0.0034 | 24 | c.252 others(43): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111576132 | T | TAACATAA others(17): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02572.hp1 HG02818.hp1 others(3): Show |
a0003 | a0003c0006a0003c0012 | a0003c0006t0003a0003c0012t0003 | a0003c0006t0003g0107 a0003c0006t0003g0109 a0003c0006t0003g0116 others(3): Show |
6 | 265 | 0.0226 | 24 | c.252 others(43): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111598951 | C | CTGCTGCT others(17): Show |
disruptive_inframe_insertion | MODERATE | NA18979.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0132 | 1 | 296 | 0.0034 | 24 | c.83_ others(29): Show |
p.Gln others(11): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/25 | 364/4347 | 83/3468 | 28/1155 | chr12 | TogoVar | |||
ATXN3_chr14_92053552_92111582 | 92071010 | C | CCTGCTGC others(17): Show |
conservative_inframe_insertion | MODERATE | HG01081.hp2 HG01255.hp1 HG01891.hp2 others(12): Show |
a0013a0017 | a0013c0013a0013c0063a0013c0065others(1): Show | a0013c0013t0009a0013c0013t0031a0013c0013t0059others(5): Show | a0013c0013t0009g0024 a0013c0013t0009g0025 a0013c0013t0009g0026 others(12): Show |
15 | 116 | 0.1293 | 24 | c.892 others(31): Show |
p.Gln others(13): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 10/11 | 945/6884 | 915/1086 | 305/361 | chr14 | TogoVar | |||
ATXN7L1_chr7_105599772_105881599 | 105692403 | T | TTCCTTCC others(17): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02055.hp2 NA19060.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0015 | a0001c0001t0006g0206 a0001c0001t0006g0248 a0001c0001t0015g0192 |
3 | 246 | 0.0122 | 24 | c.356 others(43): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105692407 | T | TTCCTTCC others(17): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01167.hp2 HG01169.hp2 others(5): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0001g0071 a0001c0001t0001g0119 a0001c0001t0004g0039 others(5): Show |
8 | 224 | 0.0357 | 24 | c.356 others(43): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105692407 | T | TTCCTTCC others(17): Show |
intron_variant | MODIFIER | NA18954.hp1 NA19056.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 a0001c0001t0002g0044 |
2 | 218 | 0.0092 | 24 | c.356 others(43): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105692411 | T | TTCCTTCC others(17): Show |
intron_variant | MODIFIER | NA18945.hp1 NA19054.hp2 |
a0001 | a0001c0001a0001c0012 | a0001c0001t0003a0001c0012t0001 | a0001c0001t0003g0186 a0001c0012t0001g0047 |
2 | 247 | 0.0081 | 24 | c.356 others(43): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105692411 | T | TTCCTTCC others(17): Show |
intron_variant | MODIFIER | HG01069.hp1 HG02280.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0032 | a0001c0001t0001g0150 a0001c0001t0032g0065 |
2 | 247 | 0.0081 | 24 | c.356 others(43): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105692424 | T | TCCCTCCC others(17): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0002 | a0002c0002 | a0002c0002t0026 | a0002c0002t0026g0212 | 1 | 132 | 0.0076 | 24 | c.356 others(43): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105740784 | T | TTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00735.hp1 HG00741.hp1 others(60): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0011 a0001c0001t0001g0029 a0001c0001t0001g0045 others(60): Show |
63 | 153 | 0.4118 | 24 | c.355 others(43): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105784458 | A | ACACACAC others(17): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0007 | a0007c0010 | a0007c0010t0027 | a0007c0010t0027g0204 | 1 | 249 | 0.0040 | 24 | c.355 others(41): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105878166 | T | TTTCCTTC others(17): Show |
upstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 247 | 0.0040 | 24 | c.-16 others(35): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 1568 | chr7 | TogoVar | |||||||
AURKB_chr17_8199734_8215575 | 8214607 | T | TATATATA others(17): Show |
upstream_gene_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 213 | 0.0047 | 24 | c.-41 others(35): Show |
AURKB | ENSG00000178999.13 | transcript | ENST00000585124.6 | protein_coding | 4033 | chr17 | TogoVar | |||||||
AURKB_chr17_8199734_8215575 | 8214607 | T | TATATATA others(17): Show |
upstream_gene_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 213 | 0.0047 | 24 | c.-41 others(35): Show |
AURKB | ENSG00000178999.13 | transcript | ENST00000585124.6 | protein_coding | 4033 | chr17 | TogoVar | |||||||
AURKC_chr19_57226023_57240548 | 57239587 | T | TAGAGAGA others(17): Show |
downstream_gene_variant | MODIFIER | HG00558.hp1 HG00597.hp1 HG00738.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0044 |
18 | 104 | 0.1731 | 24 | c.*41 others(35): Show |
AURKC | ENSG00000105146.14 | transcript | ENST00000302804.12 | protein_coding | 4040 | chr19 | TogoVar | |||||||
AUTS2_chr7_69593475_70798506 | 69614314 | C | CTCTTTCT others(17): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0007 | a0001c0007t0006 | a0001c0007t0006g0027 | 1 | 34 | 0.0294 | 24 | 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 | 69614322 | T | TTCTTTCT others(17): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 76 | 0.0132 | 24 | 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 | 69870447 | T | TTATATAT others(17): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0002 | a0002c0002 | a0002c0002t0026 | a0002c0002t0026g0011 | 1 | 59 | 0.0169 | 24 | c.310 others(43): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | chr7 | TogoVar | |||||||
AUTS2_chr7_69593475_70798506 | 69870448 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00741.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0044 a0001c0001t0001g0058 a0001c0001t0003g0072 others(10): Show |
13 | 31 | 0.4194 | 24 | c.310 others(43): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |