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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP9A_chr20_51591514_51773390 | 51743396 | A | ATTTTTTT | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00544.hp2 others(68): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0015 a0001c0001t0001g0037 a0001c0001t0001g0078 others(68): Show |
71 | 133 | 0.5338 | 7 | c.69- others(24): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 1/27 | chr20 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79071399 | C | CTTTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(95): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0006a0002c0002others(10): Show | a0001c0001t0001a0001c0006t0003a0001c0006t0007others(14): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(95): Show |
98 | 99 | 0.9899 | 7 | c.119 others(24): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79086435 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00735.hp1 HG00741.hp2 others(34): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0010others(10): Show | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0022 others(34): Show |
37 | 38 | 0.9737 | 7 | c.120 others(26): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79144738 | C | CTTATTTT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(204): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0003a0001c0004others(31): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(48): Show | a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0095 others(203): Show |
207 | 296 | 0.6993 | 7 | c.726 others(22): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79203605 | C | CTTCCTAG | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG01891.hp2 others(3): Show |
a0002a0005 | a0002c0032a0005c0009 | a0002c0032t0005a0005c0009t0005 | a0002c0032t0005g0189 a0005c0009t0005g0165 a0005c0009t0005g0166 others(3): Show |
6 | 296 | 0.0203 | 7 | c.955 others(24): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | chr18 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79237214 | G | GCCCCTTC | intron_variant | MODIFIER | HG02074.hp2 NA18979.hp1 NA19091.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0040 |
3 | 296 | 0.0101 | 7 | c.110 others(28): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 11/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79246115 | T | TGTGTGGA | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00733.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 others(5): Show |
8 | 296 | 0.0270 | 7 | c.110 others(26): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 11/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79246262 | T | TGTGTGGA | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00733.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 others(5): Show |
8 | 296 | 0.0270 | 7 | c.110 others(26): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 11/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79367190 | C | CTCCACCG | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp1 HG00609.hp2 others(97): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0003a0001c0010others(9): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0010others(11): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(97): Show |
100 | 296 | 0.3378 | 7 | c.301 others(26): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115260005 | A | AATTGAAG | intron_variant | MODIFIER | HG01071.hp2 HG01109.hp1 HG02280.hp1 others(6): Show |
a0002 | a0002c0004a0002c0008a0002c0014 | a0002c0004t0002a0002c0004t0006a0002c0004t0007others(4): Show | a0002c0004t0002g0011 a0002c0004t0002g0012 a0002c0004t0006g0087 others(6): Show |
9 | 126 | 0.0714 | 7 | c.168 others(26): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 10/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115303221 | G | GTTTTTGT | intron_variant | MODIFIER | HG00639.hp2 HG02717.hp1 HG02723.hp2 others(5): Show |
a0001 | a0001c0005a0001c0007 | a0001c0005t0007a0001c0005t0018a0001c0005t0021others(3): Show | a0001c0005t0007g0002 a0001c0005t0007g0004 a0001c0005t0007g0009 others(5): Show |
8 | 22 | 0.3636 | 7 | c.281 others(26): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 17/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115350334 | C | CAAAAAAA | intron_variant | MODIFIER | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0002t0001a0001c0002t0004others(3): Show | a0001c0001t0003g0097 a0001c0002t0001g0049 a0001c0002t0004g0056 others(4): Show |
7 | 93 | 0.0753 | 7 | c.317 others(28): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 19/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115440638 | A | AGCTAATG | intron_variant | MODIFIER | HG01109.hp1 HG03239.hp2 |
a0001a0002 | a0001c0013a0002c0008 | a0001c0013t0009a0002c0008t0044 | a0001c0013t0009g0079 a0002c0008t0044g0061 |
2 | 126 | 0.0159 | 7 | c.332 others(28): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 21/28 | chr10 | TogoVar | |||||||
ATRNL1_chr10_115088365_115953999 | 115683548 | G | GTTTTTTT | intron_variant | MODIFIER | HG01123.hp1 HG01361.hp2 HG01952.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0009 | a0001c0001t0001a0001c0001t0003a0001c0003t0031others(1): Show | a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0088 others(5): Show |
8 | 43 | 0.1860 | 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 | 115856428 | C | CAAAAAAA | intron_variant | MODIFIER | HG00735.hp1 HG01081.hp2 HG01943.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0063 a0001c0001t0001g0074 a0001c0001t0001g0100 others(19): Show |
22 | 28 | 0.7857 | 7 | c.401 others(26): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 28/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRN_chr20_3466018_3656118 | 3485610 | G | GTTTTTTT | intron_variant | MODIFIER | HG02015.hp2 HG02145.hp2 HG03098.hp1 others(3): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0003a0001c0003t0002others(2): Show | a0001c0001t0001g0163 a0001c0002t0003g0220 a0001c0003t0002g0214 others(3): Show |
6 | 48 | 0.1250 | 7 | c.410 others(26): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77538230 | A | ACACACAC | intron_variant | MODIFIER | HG02615.hp2 NA19080.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0004a0001c0005t0005 | a0001c0001t0004g0114 a0001c0005t0005g0080 |
2 | 126 | 0.0159 | 7 | c.670 others(28): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 30/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77651217 | C | CAAAAAAA | intron_variant | MODIFIER | HG02135.hp1 HG02165.hp2 NA19074.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0117 a0001c0001t0002g0171 a0001c0001t0003g0150 others(2): Show |
5 | 21 | 0.2381 | 7 | c.455 others(24): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 15/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77671167 | A | AAAAATAT | intron_variant | MODIFIER | HG01109.hp1 HG03540.hp1 NA18961.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0010a0001c0001t0014a0002c0002t0001 | a0001c0001t0010g0087 a0001c0001t0014g0179 a0002c0002t0001g0022 others(3): Show |
6 | 68 | 0.0882 | 7 | c.380 others(26): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 10/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77671167 | A | AAATATAT | intron_variant | MODIFIER | HG01081.hp1 HG02257.hp1 HG03209.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0007a0002c0002t0001 | a0001c0001t0003g0085 a0001c0001t0003g0210 a0001c0001t0007g0069 others(2): Show |
5 | 67 | 0.0746 | 7 | c.380 others(26): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 10/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77716110 | A | ATTTTTTT | intron_variant | MODIFIER | HG00621.hp1 HG00673.hp1 HG02486.hp1 others(6): Show |
a0001a0004 | a0001c0001a0004c0010 | a0001c0001t0002a0004c0010t0002 | a0001c0001t0002g0090 a0001c0001t0002g0093 a0001c0001t0002g0126 others(6): Show |
9 | 86 | 0.1047 | 7 | c.133 others(24): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 2/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77716321 | A | ATATATAT | intron_variant | MODIFIER | HG02683.hp2 NA18964.hp2 NA18984.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0107 |
3 | 151 | 0.0199 | 7 | c.133 others(22): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 2/34 | chrX | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142528877 | A | ATTTTTTT | intron_variant | MODIFIER | NA18942.hp2 NA18961.hp2 NA18977.hp1 others(4): Show |
a0001a0011 | a0001c0001a0011c0019 | a0001c0001t0001a0011c0019t0001 | a0001c0001t0001g0007 a0001c0001t0001g0046 a0001c0001t0001g0054 others(4): Show |
7 | 238 | 0.0294 | 7 | c.394 others(26): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 21/46 | chr3 | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142528879 | A | ATTTTTTT | intron_variant | MODIFIER | HG00621.hp1 HG01074.hp1 HG01167.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 a0001c0001t0001g0089 a0001c0001t0001g0109 others(3): Show |
6 | 104 | 0.0577 | 7 | c.394 others(26): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 21/46 | chr3 | TogoVar | |||||||
ATXN10_chr22_45666834_45850307 | 45818626 | G | GCAGGGAT | intron_variant | MODIFIER | HG00738.hp2 HG01884.hp2 HG02258.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0069 a0001c0001t0001g0270 a0001c0001t0001g0296 others(11): Show |
14 | 314 | 0.0446 | 7 | c.123 others(28): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16316865 | C | CTTTTTTT | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG00735.hp1 others(13): Show |
a0001a0002a0003others(2): Show | a0001c0012a0002c0011a0003c0002others(6): Show | a0001c0012t0006a0002c0011t0027a0003c0002t0009others(7): Show | a0001c0012t0006g0014 a0001c0012t0006g0052 a0001c0012t0006g0113 others(13): Show |
16 | 56 | 0.2857 | 7 | c.191 others(26): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 7/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16390680 | T | TACACACA | intron_variant | MODIFIER | HG00408.hp2 HG01081.hp1 HG02257.hp2 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0008a0001c0012others(6): Show | a0001c0001t0001a0001c0008t0011a0001c0012t0006others(6): Show | a0001c0001t0001g0159 a0001c0008t0011g0053 a0001c0012t0006g0008 others(7): Show |
10 | 77 | 0.1299 | 7 | c.-16 others(28): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16440649 | A | AAAAAAAG | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG01346.hp2 others(9): Show |
a0001a0003a0004 | a0001c0001a0003c0002a0003c0009others(3): Show | a0001c0001t0001a0001c0001t0002a0003c0002t0002others(6): Show | a0001c0001t0001g0123 a0001c0001t0002g0020 a0003c0002t0002g0090 others(9): Show |
12 | 133 | 0.0902 | 7 | c.-16 others(28): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16454125 | C | CAAAAAAA | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp2 HG01255.hp1 others(3): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0011a0003c0002others(3): Show | a0001c0001t0002a0002c0011t0007a0003c0002t0043others(3): Show | a0001c0001t0002g0020 a0002c0011t0007g0155 a0003c0002t0043g0175 others(3): Show |
6 | 48 | 0.1250 | 7 | c.-16 others(28): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16509099 | G | GAGGGGGA | intron_variant | MODIFIER | NA18993.hp1 NA18993.hp2 |
a0004 | a0004c0005a0004c0027 | a0004c0005t0002a0004c0027t0001 | a0004c0005t0002g0075 a0004c0027t0001g0064 |
2 | 180 | 0.0111 | 7 | c.-29 others(28): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 5/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16617766 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(64): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0010a0001c0012others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(39): Show | a0001c0001t0001g0037 a0001c0001t0001g0103 a0001c0001t0001g0105 others(64): Show |
67 | 144 | 0.4653 | 7 | c.-48 others(28): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16730507 | A | ATATATAT | intron_variant | MODIFIER | HG01169.hp1 HG01169.hp2 |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0010t0014 | a0001c0001t0001g0108 a0001c0010t0014g0082 |
2 | 179 | 0.0112 | 7 | c.-61 others(28): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16731454 | C | CTTTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG02055.hp1 HG02135.hp2 others(5): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0008a0001c0020others(5): Show | a0001c0001t0001a0001c0008t0001a0001c0020t0015others(5): Show | a0001c0001t0001g0158 a0001c0008t0001g0009 a0001c0020t0015g0125 others(5): Show |
8 | 53 | 0.1509 | 7 | c.-61 others(28): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111553597 | A | ATTTTTTT | intron_variant | MODIFIER | HG02630.hp1 HG02818.hp1 HG02886.hp1 others(2): Show |
a0003a0010 | a0003c0005a0003c0006a0010c0015 | a0003c0005t0003a0003c0006t0003a0010c0015t0003 | a0003c0005t0003g0137 a0003c0006t0003g0109 a0003c0006t0003g0110 others(2): Show |
5 | 287 | 0.0174 | 7 | c.348 others(22): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111553598 | A | ATTTTTTT | intron_variant | MODIFIER | HG01169.hp2 HG02257.hp1 HG02486.hp2 |
a0003a0004 | a0003c0004a0003c0006a0004c0020 | a0003c0004t0003a0003c0006t0003a0004c0020t0003 | a0003c0004t0003g0022 a0003c0006t0003g0112 a0004c0020t0003g0119 |
3 | 279 | 0.0108 | 7 | c.348 others(22): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111553604 | A | AATTTTTT | intron_variant | MODIFIER | HG00597.hp2 HG02056.hp2 HG02129.hp2 others(8): Show |
a0001a0003 | a0001c0003a0003c0005 | a0001c0003t0001a0001c0003t0003a0003c0005t0001others(1): Show | a0001c0003t0001g0146 a0001c0003t0001g0147 a0001c0003t0001g0181 others(8): Show |
11 | 64 | 0.1719 | 7 | c.348 others(22): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111592782 | C | CAAAAAAA | intron_variant | MODIFIER | HG00597.hp1 HG02132.hp2 HG02155.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0002a0001c0003t0001a0002c0002t0001 | a0001c0001t0002g0228 a0001c0001t0002g0248 a0001c0003t0001g0198 others(9): Show |
12 | 89 | 0.1348 | 7 | c.251 others(24): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ATXN3_chr14_92053552_92111582 | 92069083 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp1 others(142): Show |
a0003a0004a0006others(25): Show | a0003c0026a0004c0003a0006c0005others(36): Show | a0003c0026t0017a0004c0003t0001a0004c0003t0002others(53): Show | a0003c0026t0017g0020 a0003c0026t0017g0021 a0003c0026t0017g0022 others(138): Show |
145 | 391 | 0.3708 | 7 | c.991 others(24): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 10/10 | chr14 | TogoVar | |||||||
ATXN3_chr14_92053552_92111582 | 92076939 | C | CAAAAAAA | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01255.hp1 others(17): Show |
a0006a0008a0009others(8): Show | a0006c0052a0008c0039a0009c0037others(8): Show | a0006c0052t0011a0008c0039t0012a0009c0037t0011others(11): Show | a0006c0052t0011g0116 a0008c0039t0012g0132 a0008c0039t0012g0133 others(17): Show |
20 | 240 | 0.0833 | 7 | c.872 others(24): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 9/10 | chr14 | TogoVar | |||||||
ATXN3_chr14_92053552_92111582 | 92086253 | C | CAAAAAAA | intron_variant | MODIFIER | HG01255.hp1 HG02258.hp2 HG02451.hp2 others(15): Show |
a0006a0008a0009others(8): Show | a0006c0005a0008c0039a0009c0037others(8): Show | a0006c0005t0001a0008c0039t0012a0009c0037t0011others(11): Show | a0006c0005t0001g0088 a0008c0039t0012g0132 a0009c0037t0011g0115 others(15): Show |
18 | 196 | 0.0918 | 7 | c.475 others(24): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 6/10 | chr14 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105619140 | G | GTTTTTTT | intron_variant | MODIFIER | HG00741.hp1 HG01168.hp1 HG01175.hp2 others(12): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(10): Show | a0001c0001t0002g0118 a0001c0001t0004g0023 a0001c0001t0005g0165 others(12): Show |
15 | 25 | 0.6000 | 7 | c.151 others(26): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 9/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105619531 | T | TATATATA | intron_variant | MODIFIER | HG00673.hp1 HG02965.hp1 HG03688.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0020others(1): Show | a0001c0001t0001g0006 a0001c0001t0002g0017 a0001c0001t0002g0044 others(2): Show |
5 | 226 | 0.0221 | 7 | c.151 others(24): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 9/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105727767 | T | TATATATA | intron_variant | MODIFIER | HG01981.hp2 HG02055.hp2 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006a0001c0001t0023 | a0001c0001t0005g0165 a0001c0001t0006g0206 a0001c0001t0023g0008 |
3 | 194 | 0.0155 | 7 | c.355 others(26): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105820126 | C | CAAAAAAA | intron_variant | MODIFIER | HG02129.hp1 HG02165.hp2 NA19009.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0147 a0001c0001t0002g0185 a0001c0001t0003g0002 others(3): Show |
6 | 60 | 0.1000 | 7 | c.251 others(26): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | |||||||
ATXN7_chr3_63858867_64008462 | 63952835 | C | CTTTTTTT | intron_variant | MODIFIER | HG00408.hp1 HG01361.hp1 HG01884.hp1 others(20): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0006a0002c0002t0002a0002c0002t0014others(5): Show | a0001c0001t0006g0214 a0001c0001t0006g0216 a0001c0001t0006g0235 others(20): Show |
23 | 88 | 0.2614 | 7 | c.499 others(22): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69611936 | C | CAAAAAAA | intron_variant | MODIFIER | HG01081.hp2 HG01884.hp2 HG01934.hp1 others(9): Show |
a0001a0005 | a0001c0001a0001c0005a0005c0009 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0002g0067 a0001c0001t0004g0042 a0001c0001t0004g0056 others(9): Show |
12 | 35 | 0.3429 | 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 | 70716636 | C | CAAAAAAA | intron_variant | MODIFIER | HG00741.hp2 HG03017.hp2 HG03704.hp1 others(2): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0044 a0001c0001t0003g0033 a0001c0001t0005g0020 others(2): Show |
5 | 12 | 0.4167 | 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 | 70768877 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00597.hp1 HG00597.hp2 others(18): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0034 a0001c0001t0001g0058 a0001c0001t0001g0071 others(18): Show |
21 | 52 | 0.4038 | 7 | c.173 others(24): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVEN_chr15_33861227_34044204 | 33899460 | C | CTTTTTTT | intron_variant | MODIFIER | HG00609.hp2 HG01192.hp1 HG02015.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0239 a0001c0001t0002g0156 a0001c0001t0002g0157 others(5): Show |
8 | 13 | 0.6154 | 7 | c.446 others(26): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33968099 | T | TAAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp2 HG00735.hp1 others(40): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0059 others(40): Show |
43 | 63 | 0.6825 | 7 | c.445 others(26): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar |