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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATRX_chrX_77499880_77791216 | 77671167 | A | AAAAATAT | intron_variant | MODIFIER | HG01109.hp1 HG03540.hp1 NA18961.hp1 others(3): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0009 | a0001c0001t0020a0002c0002t0001a0005c0009t0010 | a0001c0001t0020g0180a0002c0002t0001g0029a0002c0002t0001g0038others(3): Show | 6 | 218 | 0.0275 | 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 | a0001c0001t0003a0001c0001t0007a0001c0001t0011others(1): Show | a0001c0001t0003g0088a0001c0001t0007g0070a0001c0001t0011g0001others(2): Show | 5 | 218 | 0.0229 | 7 | c.380 others(26): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 10/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77671167 | A | ATATATAT | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0178 | 1 | 218 | 0.0046 | 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 | a0001c0001a0004c0011 | a0001c0001t0002a0004c0011t0002 | a0001c0001t0002g0090a0001c0001t0002g0106a0001c0001t0002g0146others(6): Show | 9 | 218 | 0.0413 | 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 | a0002c0002t0001g0036a0002c0002t0001g0044a0002c0002t0001g0109 | 3 | 218 | 0.0138 | 7 | c.133 others(22): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 2/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77716323 | A | AAATATAT | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0201 | 1 | 218 | 0.0046 | 7 | c.133 others(22): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 2/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77716323 | A | ATATATAT | intron_variant | MODIFIER | HG03490.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0026 | 1 | 218 | 0.0046 | 7 | c.133 others(22): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 2/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77735834 | A | AAATAAAT | intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0187 | 1 | 218 | 0.0046 | 7 | c.21- others(24): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 1/34 | chrX | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142528877 | A | ATTTTTTT | intron_variant | MODIFIER | NA18942.hp2 NA18961.hp2 NA18977.hp1 others(4): Show |
a0001a0011 | a0001c0001a0011c0019 | a0001c0001t0001a0011c0019t0001 | a0001c0001t0001g0005a0001c0001t0001g0043a0001c0001t0001g0074others(4): Show | 7 | 322 | 0.0217 | 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 | a0001c0001t0001g0034a0001c0001t0001g0092a0001c0001t0001g0101others(3): Show | 6 | 322 | 0.0186 | 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 | a0001c0001t0001g0068a0001c0001t0001g0271a0001c0001t0001g0297others(11): Show | 14 | 316 | 0.0443 | 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 |
a0002a0004a0010others(4): Show | a0002c0002a0004c0005a0004c0015others(7): Show | a0002c0002t0009a0004c0005t0002a0004c0015t0001others(7): Show | a0002c0002t0009g0094a0004c0005t0002g0075a0004c0005t0002g0096others(13): Show | 16 | 182 | 0.0879 | 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(5): Show | a0001c0001a0002c0004a0003c0003others(6): Show | a0001c0001t0001a0002c0004t0001a0003c0003t0001others(6): Show | a0001c0001t0001g0159a0002c0004t0001g0073a0003c0003t0001g0039others(7): Show | 10 | 182 | 0.0550 | 7 | c.-16 others(28): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16440649 | A | AAAAAAAG | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG01346.hp2 others(9): Show |
a0001a0002a0011others(2): Show | a0001c0001a0002c0002a0002c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(6): Show | a0001c0001t0001g0123a0001c0001t0002g0020a0002c0002t0002g0090others(9): Show | 12 | 182 | 0.0659 | 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 |
a0001a0002a0004others(3): Show | a0001c0001a0002c0002a0004c0005others(3): Show | a0001c0001t0002a0002c0002t0043a0004c0005t0002others(3): Show | a0001c0001t0002g0020a0002c0002t0043g0175a0004c0005t0002g0122others(3): Show | 6 | 182 | 0.0330 | 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 |
a0004a0023 | a0004c0005a0023c0035 | a0004c0005t0002a0023c0035t0001 | a0004c0005t0002g0075a0023c0035t0001g0064 | 2 | 182 | 0.0110 | 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(21): Show | a0001c0001a0001c0027a0001c0029others(29): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(42): Show | a0001c0001t0001g0037a0001c0001t0001g0103a0001c0001t0001g0105others(64): Show | 67 | 182 | 0.3681 | 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 |
a0001a0021 | a0001c0001a0021c0021 | a0001c0001t0001a0021c0021t0014 | a0001c0001t0001g0108a0021c0021t0014g0082 | 2 | 182 | 0.0110 | 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 |
a0001a0004a0008others(4): Show | a0001c0001a0001c0028a0004c0005others(5): Show | a0001c0001t0001a0001c0028t0015a0004c0005t0008others(5): Show | a0001c0001t0001g0158a0001c0028t0015g0125a0004c0005t0008g0068others(5): Show | 8 | 182 | 0.0440 | 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 |
a0003a0013 | a0003c0004a0003c0006a0013c0021 | a0003c0004t0003a0003c0006t0003a0013c0021t0003 | a0003c0004t0003g0096a0003c0004t0003g0097a0003c0004t0003g0103others(2): Show | 5 | 298 | 0.0168 | 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 |
a0003a0008 | a0003c0004a0008c0023 | a0003c0004t0003a0008c0023t0003 | a0003c0004t0003g0099a0003c0004t0003g0110a0008c0023t0003g0119 | 3 | 298 | 0.0101 | 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 | a0001c0003t0001g0131a0001c0003t0001g0132a0001c0003t0001g0166others(8): Show | 11 | 298 | 0.0369 | 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 | a0001c0001t0002g0228a0001c0001t0002g0248a0001c0003t0001g0183others(9): Show | 12 | 298 | 0.0403 | 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(34): Show | a0003c0003a0004c0026a0006c0005others(36): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0004others(83): Show | a0003c0003t0001g0064a0003c0003t0001g0076a0003c0003t0001g0077others(138): Show | 145 | 402 | 0.3607 | 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 |
a0013a0014a0017others(8): Show | a0013c0012a0014c0015a0017c0019others(8): Show | a0013c0012t0002a0014c0015t0026a0014c0015t0035others(14): Show | a0013c0012t0002g0041a0014c0015t0026g0184a0014c0015t0035g0188others(17): Show | 20 | 402 | 0.0498 | 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 |
a0006a0014a0017others(8): Show | a0006c0005a0014c0015a0017c0019others(8): Show | a0006c0005t0004a0014c0015t0026a0014c0015t0035others(13): Show | a0006c0005t0004g0084a0014c0015t0026g0184a0014c0015t0035g0186others(15): Show | 18 | 402 | 0.0448 | 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(13): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(11): Show | a0001c0001t0001g0119a0001c0001t0004g0023a0001c0001t0006g0067others(13): Show | 16 | 252 | 0.0635 | 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 | a0001c0001t0001a0001c0001t0003a0001c0001t0024others(1): Show | a0001c0001t0001g0017a0001c0001t0001g0044a0001c0001t0003g0006others(2): Show | 5 | 252 | 0.0198 | 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 | a0001c0001t0005a0001c0001t0014a0001c0001t0027 | a0001c0001t0005g0206a0001c0001t0014g0166a0001c0001t0027g0008 | 3 | 252 | 0.0119 | 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 | a0001c0001t0001g0185a0001c0001t0002g0002a0001c0001t0002g0142others(3): Show | 6 | 252 | 0.0238 | 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 | a0001c0001t0005a0002c0002t0002a0002c0002t0008others(6): Show | a0001c0001t0005g0213a0001c0001t0005g0216a0001c0001t0005g0235others(20): Show | 23 | 300 | 0.0767 | 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 |
a0001a0004 | a0001c0001a0001c0005a0004c0009 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0002g0067a0001c0001t0004g0042a0001c0001t0004g0056others(9): Show | 12 | 76 | 0.1579 | 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 |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0044a0001c0001t0003g0031a0001c0001t0005g0020others(2): Show | 5 | 76 | 0.0658 | 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 | a0001c0001t0001g0033a0001c0001t0001g0058a0001c0001t0001g0071others(18): Show | 21 | 76 | 0.2763 | 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 | a0001c0001t0001g0098a0001c0001t0002g0043a0001c0001t0002g0054others(5): Show | 8 | 266 | 0.0301 | 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 | a0001c0001t0001g0028a0001c0001t0001g0042a0001c0001t0001g0052others(40): Show | 43 | 266 | 0.1617 | 7 | c.445 others(26): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32497637 | A | ATGTTGAC | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00423.hp2 others(119): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(54): Show | a0001c0001t0001g0012a0001c0001t0001g0048a0001c0001t0001g0176others(119): Show | 122 | 330 | 0.3697 | 7 | c.93+ others(22): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AVL9_chr7_32490489_32593726 | 32546083 | T | TTTTTTTA | intron_variant | MODIFIER | HG01256.hp1 HG02486.hp2 HG02615.hp2 others(12): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(10): Show | a0001c0001t0001g0186a0001c0001t0004g0023a0001c0001t0007g0221others(12): Show | 15 | 330 | 0.0455 | 7 | c.300 others(24): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 3/15 | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32557857 | T | TTTGTTTG | intron_variant | MODIFIER | HG00733.hp1 HG02486.hp1 HG02622.hp1 others(5): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0054a0001c0007t0016 | a0001c0001t0001g0192a0001c0001t0001g0200a0001c0001t0054g0190others(5): Show | 8 | 330 | 0.0242 | 7 | c.610 others(22): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AVL9_chr7_32490489_32593726 | 32557861 | T | TTTGTTTG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(187): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(89): Show | a0001c0001t0001g0012a0001c0001t0001g0048a0001c0001t0001g0176others(187): Show | 190 | 330 | 0.5758 | 7 | c.610 others(22): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AVPR2_chrX_153899673_153912166 | 153902807 | C | CCAACCTG | upstream_gene_variant | MODIFIER | NA18976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 322 | 0.0031 | 7 | c.-21 others(18): Show |
AVPR2 | ENSG00000126895.16 | transcript | ENST00000646375.2 | protein_coding | 1865 | chrX | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179401258 | C | CAAAAAAA | intron_variant | MODIFIER | HG01106.hp2 HG01496.hp1 HG01934.hp2 others(7): Show |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0298a0004c0005t0001g0299a0004c0005t0001g0300others(7): Show | 10 | 356 | 0.0281 | 7 | c.110 others(26): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 11/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AXDND1_chr1_179360971_179559735 | 179437676 | A | AGACAGAG | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp1 HG00733.hp2 others(65): Show |
a0003a0006a0007others(7): Show | a0003c0004a0006c0010a0007c0009others(7): Show | a0003c0004t0001a0006c0010t0001a0007c0009t0001others(7): Show | a0003c0004t0001g0003a0003c0004t0001g0005a0003c0004t0001g0008others(65): Show | 68 | 356 | 0.1910 | 7 | c.156 others(26): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 15/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AXDND1_chr1_179360971_179559735 | 179448109 | T | TTTTTTTA | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp1 HG00733.hp2 others(80): Show |
a0001a0002a0003others(10): Show | a0001c0007a0002c0023a0003c0004others(10): Show | a0001c0007t0001a0002c0023t0001a0003c0004t0001others(10): Show | a0001c0007t0001g0080a0001c0007t0001g0175a0001c0007t0001g0183others(80): Show | 83 | 356 | 0.2332 | 7 | c.179 others(26): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 16/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AXDND1_chr1_179360971_179559735 | 179460020 | C | CCTTCCTT | intron_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG01071.hp2 others(12): Show |
a0003a0008a0009others(1): Show | a0003c0004a0008c0012a0009c0013others(1): Show | a0003c0004t0001a0008c0012t0001a0009c0013t0001others(1): Show | a0003c0004t0001g0173a0003c0004t0001g0177a0003c0004t0001g0179others(12): Show | 15 | 356 | 0.0421 | 7 | c.179 others(26): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 16/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AXIN1_chr16_282440_357723 | 320741 | A | ATTTTTTT | intron_variant | MODIFIER | HG01243.hp2 HG02622.hp1 HG02818.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072a0001c0001t0001g0083a0001c0001t0001g0084others(3): Show | 6 | 378 | 0.0159 | 7 | c.879 others(24): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
AXIN1_chr16_282440_357723 | 351132 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00642.hp1 others(51): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0003a0001c0007others(7): Show | a0001c0001t0002a0001c0001t0010a0001c0001t0013others(18): Show | a0001c0001t0002g0006a0001c0001t0002g0008a0001c0001t0002g0009others(51): Show | 54 | 378 | 0.1429 | 7 | c.-82 others(24): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 1/10 | chr16 | TogoVar | ||||||
AXL_chr19_41214223_41266766 | 41260298 | C | CTTTTTTT | 3_prime_UTR_variant | MODIFIER | HG00639.hp1 HG01496.hp1 HG01891.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0009a0001c0001t0012a0001c0002t0009others(1): Show | a0001c0001t0009g0030a0001c0001t0009g0070a0001c0001t0009g0141others(16): Show | 20 | 314 | 0.0637 | 7 | c.*41 others(16): Show |
AXL | ENSG00000167601.12 | transcript | ENST00000301178.9 | protein_coding | 20/20 | 426 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
AZGP1_chr7_99961730_99981031 | 99968962 | C | CAAAAAAA | intron_variant | MODIFIER | HG00673.hp1 HG00733.hp2 HG01168.hp1 others(40): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0002t0001a0002c0004t0001 | a0001c0001t0001g0008a0001c0001t0001g0012a0001c0001t0001g0024others(15): Show | 43 | 432 | 0.0995 | 7 | c.338 others(22): Show |
AZGP1 | ENSG00000160862.13 | transcript | ENST00000292401.9 | protein_coding | 2/3 | chr7 | TogoVar | ||||||
AZIN2_chr1_33076153_33128492 | 33108342 | C | CTTTTTTT | intron_variant | MODIFIER | HG00673.hp2 NA18946.hp2 NA18948.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0014 | a0001c0001t0003g0006a0001c0001t0003g0011a0001c0001t0003g0096others(5): Show | 13 | 322 | 0.0404 | 7 | c.103 others(26): Show |
AZIN2 | ENSG00000142920.18 | transcript | ENST00000294517.11 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |