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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACTR3C_chr7_150242212_150328545 | 150327664 | TAAAAG | T | upstream_gene_variant | MODIFIER | HG02109.hp1 HG02615.hp2 HG02630.hp1 others(10): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0009c0010 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0041a0001c0001t0001g0042others(9): Show | 13 | 294 | 0.0442 | -5 | c.-42 others(16): Show |
ACTR3C | ENSG00000106526.12 | transcript | ENST00000683684.1 | protein_coding | 4120 | chr7 | TogoVar | ||||||
ACTR3_chr2_113885089_113967596 | 113928513 | GGGTTT | G | intron_variant | MODIFIER | HG00609.hp2 HG01167.hp1 HG01981.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0026a0001c0001t0005g0326a0001c0001t0005g0327others(12): Show | 16 | 390 | 0.0410 | -5 | c.336 others(22): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACTR5_chr20_38743460_38777520 | 38776912 | TGTGTG | T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(76): Show |
a0002a0008a0010 | a0002c0002a0002c0003a0008c0011others(1): Show | a0002c0002t0001a0002c0003t0001a0008c0011t0001others(1): Show | a0002c0002t0001g0001a0002c0002t0001g0016a0002c0002t0001g0017others(23): Show | 79 | 366 | 0.2159 | -5 | c.*50 others(16): Show |
ACTR5 | ENSG00000101442.10 | transcript | ENST00000243903.6 | protein_coding | 4393 | chr20 | TogoVar | ||||||
ACTR8_chr3_53862066_53887152 | 53863821 | ATTTTT | A | downstream_gene_variant | MODIFIER | HG00621.hp2 HG01981.hp1 HG02004.hp2 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0003g0006a0001c0001t0004g0009a0001c0001t0004g0068others(7): Show | 36 | 432 | 0.0833 | -5 | c.*48 others(16): Show |
ACTR8 | ENSG00000113812.14 | transcript | ENST00000335754.8 | protein_coding | 3244 | chr3 | TogoVar | ||||||
ACTRT1_chrX_128045962_128057403 | 128048203 | ATGTGT | A | downstream_gene_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 285 | 0.0035 | -5 | c.*28 others(16): Show |
ACTRT1 | ENSG00000123165.9 | transcript | ENST00000371124.5 | protein_coding | 2758 | chrX | TogoVar | ||||||
ACTRT3_chr3_169761921_169774561 | 169770275 | GTTATA | G | upstream_gene_variant | MODIFIER | HG02965.hp1 HG03654.hp1 NA18946.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0001a0002c0002t0001a0002c0004t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0038others(2): Show | 5 | 418 | 0.0120 | -5 | c.-76 others(14): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 715 | chr3 | TogoVar | ||||||
ACVR1B_chr12_51946699_52002078 | 51993765 | TAAAAA | T | intron_variant | MODIFIER | HG00621.hp1 HG00639.hp1 HG02132.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0020a0001c0001t0001g0022a0001c0001t0001g0189others(16): Show | 21 | 324 | 0.0648 | -5 | c.139 others(22): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACVR1C_chr2_157521767_157633864 | 157541280 | ATAAAT | A | intron_variant | MODIFIER | HG02280.hp1 HG03098.hp2 HG03471.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0002t0001 | a0001c0001t0012g0191a0001c0001t0012g0192a0001c0002t0001g0030 | 3 | 216 | 0.0139 | -5 | c.110 others(20): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 6/8 | chr2 | TogoVar | ||||||
ACVR1C_chr2_157521767_157633864 | 157562459 | AAAAAT | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(131): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(34): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0013others(130): Show | 134 | 216 | 0.6204 | -5 | c.305 others(22): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | TogoVar | ||||||
ACVR1C_chr2_157521767_157633864 | 157613462 | AATATT | A | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00621.hp2 others(32): Show |
a0001a0002 | a0001c0002a0001c0010a0002c0003 | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(2): Show | a0001c0002t0001g0041a0001c0002t0001g0042a0001c0002t0001g0044others(32): Show | 35 | 216 | 0.1620 | -5 | c.73+ others(22): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | TogoVar | ||||||
ACVR1_chr2_157731446_157881330 | 157732276 | CTCTTT | C | downstream_gene_variant | MODIFIER | HG02109.hp1 HG03098.hp2 HG03195.hp1 others(3): Show |
a0001 | a0001c0006 | a0001c0006t0006 | a0001c0006t0006g0022a0001c0006t0006g0102a0001c0006t0006g0103others(3): Show | 6 | 174 | 0.0345 | -5 | c.*52 others(16): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 4169 | chr2 | TogoVar | ||||||
ACVR1_chr2_157731446_157881330 | 157751692 | ACTTCC | A | intron_variant | MODIFIER | HG00438.hp1 NA18960.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012 | a0001c0001t0002g0129a0001c0001t0012g0011 | 2 | 174 | 0.0115 | -5 | c.126 others(24): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | TogoVar | ||||||
ACVR1_chr2_157731446_157881330 | 157755523 | AATACC | A | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG02145.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(6): Show | a0001c0001t0001g0082a0001c0001t0001g0131a0001c0002t0001g0024others(13): Show | 16 | 174 | 0.0920 | -5 | c.126 others(24): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | TogoVar | ||||||
ACVR1_chr2_157731446_157881330 | 157826651 | CAAAAA | C | intron_variant | MODIFIER | HG02258.hp1 HG02559.hp2 HG03098.hp1 others(3): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0001a0001c0003t0001a0001c0004t0008others(1): Show | a0001c0002t0001g0031a0001c0003t0001g0019a0001c0004t0008g0030others(3): Show | 6 | 174 | 0.0345 | -5 | c.-18 others(24): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | ||||||
ACVR1_chr2_157731446_157881330 | 157826697 | GAAGGA | G | intron_variant | MODIFIER | HG00408.hp2 HG00735.hp1 HG02109.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0002t0001others(2): Show | a0001c0001t0002g0065a0001c0001t0004g0164a0001c0002t0001g0032others(4): Show | 7 | 174 | 0.0402 | -5 | c.-18 others(24): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | ||||||
ACVR1_chr2_157731446_157881330 | 157826864 | GGGAAA | G | intron_variant | MODIFIER | HG02698.hp1 HG03710.hp2 NA20905.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0005 | a0001c0002t0001g0058a0001c0002t0001g0059a0001c0002t0005g0006 | 3 | 174 | 0.0172 | -5 | c.-18 others(24): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | ||||||
ACVR1_chr2_157731446_157881330 | 157851898 | CACACA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00438.hp2 others(47): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(10): Show | a0001c0001t0001g0040a0001c0001t0001g0042a0001c0001t0001g0047others(47): Show | 50 | 174 | 0.2874 | -5 | c.-18 others(26): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | ||||||
ACVR1_chr2_157731446_157881330 | 157863011 | CTTTTT | C | intron_variant | MODIFIER | HG00558.hp2 HG03486.hp2 HG03927.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0013a0001c0002t0004others(1): Show | a0001c0001t0002g0069a0001c0001t0002g0151a0001c0001t0013g0165others(2): Show | 5 | 174 | 0.0287 | -5 | c.-18 others(26): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | ||||||
ACVR2A_chr2_147840029_147935822 | 147908059 | AAAAAG | A | intron_variant | MODIFIER | HG00609.hp1 HG00673.hp1 HG00733.hp2 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007 | a0001c0001t0003g0001a0001c0001t0003g0002a0001c0001t0003g0003others(28): Show | 39 | 338 | 0.1154 | -5 | c.529 others(22): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACVR2B_chr3_38448890_38498142 | 38466311 | TAGCAA | T | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00597.hp1 others(55): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0014a0001c0001t0015others(36): Show | a0001c0001t0008g0006a0001c0001t0008g0008a0001c0001t0008g0032others(47): Show | 58 | 410 | 0.1415 | -5 | c.53- others(22): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 1/10 | chr3 | TogoVar | ||||||
ACVRL1_chr12_51902504_51928361 | 51914716 | TTTTAA | T | intron_variant | MODIFIER | HG00438.hp2 HG00738.hp1 HG00738.hp2 others(57): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(9): Show | a0001c0001t0002g0062a0001c0001t0004g0003a0001c0001t0004g0019others(24): Show | 60 | 438 | 0.1370 | -5 | c.772 others(20): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACYP1_chr14_75048243_75069024 | 75057964 | CAAAAA | C | intron_variant | MODIFIER | HG02622.hp2 HG02723.hp2 HG02965.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0060a0001c0001t0001g0086 | 8 | 322 | 0.0248 | -5 | c.85- others(20): Show |
ACYP1 | ENSG00000119640.9 | transcript | ENST00000238618.8 | protein_coding | 2/2 | chr14 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54007160 | AAAAAG | A | intron_variant | MODIFIER | HG00621.hp1 HG01255.hp1 HG02132.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0001a0001c0001t0001g0246a0001c0001t0001g0250others(5): Show | 8 | 272 | 0.0294 | -5 | c.62+ others(22): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54010737 | CTTTTT | C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(81): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(9): Show | a0001c0001t0001g0115a0001c0001t0001g0117a0001c0001t0001g0118others(81): Show | 84 | 272 | 0.3088 | -5 | c.62+ others(22): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54035009 | CAAAAA | C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00621.hp1 others(36): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0199a0001c0001t0001g0213others(36): Show | 39 | 272 | 0.1434 | -5 | c.63- others(22): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54102638 | CAAAAA | C | intron_variant | MODIFIER | HG01891.hp1 HG02615.hp2 HG02630.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003a0001c0002t0009others(1): Show | a0001c0001t0001g0128a0001c0001t0001g0208a0001c0002t0003g0076others(3): Show | 6 | 272 | 0.0221 | -5 | c.278 others(24): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54119051 | CTTTTT | C | intron_variant | MODIFIER | HG01071.hp2 HG01074.hp2 HG01109.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(3): Show | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(13): Show | 16 | 272 | 0.0588 | -5 | c.278 others(24): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54127750 | CAAAAA | C | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp2 HG02109.hp2 others(15): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0010a0001c0001t0011others(4): Show | a0001c0001t0001g0105a0001c0001t0001g0127a0001c0001t0001g0128others(15): Show | 18 | 272 | 0.0662 | -5 | c.278 others(22): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54177901 | CTTTAT | C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(52): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(7): Show | a0001c0001t0001g0117a0001c0001t0001g0118a0001c0001t0001g0196others(52): Show | 55 | 272 | 0.2022 | -5 | c.404 others(24): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54197942 | ATATTG | A | intron_variant | MODIFIER | HG00438.hp1 HG00738.hp1 HG01070.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(2): Show | a0001c0001t0001g0118a0001c0001t0001g0142a0001c0001t0001g0159others(14): Show | 17 | 272 | 0.0625 | -5 | c.404 others(24): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54199820 | CCACTG | C | intron_variant | MODIFIER | HG01255.hp1 HG01346.hp1 HG02615.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(1): Show | a0001c0001t0001g0193a0001c0001t0001g0233a0001c0001t0001g0263others(5): Show | 8 | 272 | 0.0294 | -5 | c.404 others(24): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54202405 | CTTTTT | C | intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG01891.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0012a0001c0002t0001others(2): Show | a0001c0001t0001g0112a0001c0001t0001g0113a0001c0001t0001g0164others(12): Show | 15 | 272 | 0.0552 | -5 | c.404 others(24): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54202706 | CTTTTT | C | intron_variant | MODIFIER | HG02109.hp2 HG02451.hp2 HG02683.hp2 others(2): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(1): Show | a0001c0001t0001g0261a0001c0002t0002g0103a0001c0002t0003g0080others(2): Show | 5 | 272 | 0.0184 | -5 | c.404 others(24): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54203250 | AATTTT | A | intron_variant | MODIFIER | HG01255.hp1 HG01346.hp1 HG02615.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(1): Show | a0001c0001t0001g0193a0001c0001t0001g0233a0001c0001t0001g0263others(6): Show | 9 | 272 | 0.0331 | -5 | c.404 others(24): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54210141 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG01175.hp1 HG01346.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(1): Show | a0001c0001t0001g0191a0001c0001t0004g0141a0001c0001t0004g0225others(3): Show | 6 | 272 | 0.0221 | -5 | c.404 others(24): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54244724 | CTTGTT | C | intron_variant | MODIFIER | HG00423.hp2 HG02040.hp2 HG02083.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0037a0001c0002t0002g0038a0001c0002t0002g0041others(4): Show | 7 | 272 | 0.0257 | -5 | c.405 others(24): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54246512 | CCATTT | C | intron_variant | MODIFIER | HG01255.hp1 HG01346.hp1 HG02615.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(1): Show | a0001c0001t0001g0193a0001c0001t0001g0233a0001c0001t0001g0263others(5): Show | 8 | 272 | 0.0294 | -5 | c.405 others(24): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54248050 | GTTGTT | G | intron_variant | MODIFIER | HG01243.hp1 HG02965.hp2 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243a0001c0001t0001g0266a0001c0001t0001g0268 | 3 | 272 | 0.0110 | -5 | c.405 others(24): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54260847 | TAAGAC | T | intron_variant | MODIFIER | HG02109.hp2 HG02976.hp1 |
a0003 | a0003c0004 | a0003c0004t0007 | a0003c0004t0007g0003a0003c0004t0007g0004 | 2 | 272 | 0.0074 | -5 | c.405 others(24): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54262674 | ATTTTC | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(118): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0115a0001c0001t0001g0117others(118): Show | 121 | 272 | 0.4449 | -5 | c.405 others(24): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54276654 | CACACA | C | intron_variant | MODIFIER | HG01255.hp1 HG01346.hp1 HG02559.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(1): Show | a0001c0001t0001g0233a0001c0001t0001g0263a0001c0002t0001g0098others(2): Show | 5 | 272 | 0.0184 | -5 | c.405 others(24): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | chr2 | TogoVar | ||||||
ADAD1_chr4_122374011_122434784 | 122378285 | CAAAAA | C | upstream_gene_variant | MODIFIER | HG02056.hp1 HG02056.hp2 HG02647.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0004a0001c0001t0001g0073a0001c0001t0001g0108others(5): Show | 8 | 376 | 0.0213 | -5 | c.-91 others(14): Show |
ADAD1 | ENSG00000164113.11 | transcript | ENST00000296513.7 | protein_coding | 725 | chr4 | TogoVar | ||||||
ADAD1_chr4_122374011_122434784 | 122387134 | ATTTTC | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(369): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(314): Show | 372 | 376 | 0.9894 | -5 | c.529 others(22): Show |
ADAD1 | ENSG00000164113.11 | transcript | ENST00000296513.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ADAD1_chr4_122374011_122434784 | 122395021 | TGTGTG | T | intron_variant | MODIFIER | NA18957.hp1 NA18961.hp1 NA19058.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0301a0001c0001t0001g0302a0001c0001t0001g0303 | 3 | 376 | 0.0080 | -5 | c.599 others(22): Show |
ADAD1 | ENSG00000164113.11 | transcript | ENST00000296513.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ADAD1_chr4_122374011_122434784 | 122407480 | ATTAAT | A | intron_variant | MODIFIER | HG01361.hp1 HG02280.hp2 HG02572.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0016a0001c0001t0001g0043a0001c0001t0001g0044others(2): Show | 6 | 376 | 0.0160 | -5 | c.725 others(20): Show |
ADAD1 | ENSG00000164113.11 | transcript | ENST00000296513.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ADAL_chr15_43325672_43359569 | 43336444 | AGTAAT | A | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp1 others(178): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(18): Show | a0001c0001t0002g0001a0001c0001t0002g0004a0001c0001t0002g0005others(92): Show | 181 | 386 | 0.4689 | -5 | c.195 others(20): Show |
ADAL | ENSG00000168803.16 | transcript | ENST00000562188.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAM10_chr15_58583809_58754707 | 58593149 | ATTTTT | A | 3_prime_UTR_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG01243.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0027a0001c0001t0057others(2): Show | a0001c0001t0008g0191a0001c0001t0008g0209a0001c0001t0008g0215others(9): Show | 12 | 342 | 0.0351 | -5 | c.*43 others(16): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 16/16 | 4393 | chr15 | TogoVar | |||||
ADAM10_chr15_58583809_58754707 | 58720404 | ATTTTT | A | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02559.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0016a0001c0001t0025others(5): Show | a0001c0001t0015g0334a0001c0001t0015g0338a0001c0001t0015g0339others(10): Show | 13 | 342 | 0.0380 | -5 | c.56- others(20): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 1/15 | chr15 | TogoVar | ||||||
ADAM10_chr15_58583809_58754707 | 58729963 | AAAAAC | A | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02559.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0016a0001c0001t0025others(4): Show | a0001c0001t0015g0334a0001c0001t0015g0338a0001c0001t0015g0339others(9): Show | 12 | 342 | 0.0351 | -5 | c.56- others(22): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 1/15 | chr15 | TogoVar | ||||||
ADAM10_chr15_58583809_58754707 | 58735400 | GAATAA | G | intron_variant | MODIFIER | HG02723.hp1 HG02970.hp1 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0063a0001c0001t0064a0001c0001t0065 | a0001c0001t0063g0195a0001c0001t0064g0257a0001c0001t0065g0194 | 3 | 342 | 0.0088 | -5 | c.55+ others(22): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 1/15 | chr15 | TogoVar |