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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASTN2_chr9_116418112_117420057 | 117060444 | GAA | G | intron_variant | MODIFIER | HG02559.hp2 NA19043.hp1 NA21309.hp1 |
a0001a0002 | a0001c0001a0001c0005a0002c0004 | a0001c0001t0002a0001c0005t0005a0002c0004t0006 | a0001c0001t0002g0070a0001c0005t0005g0007a0002c0004t0006g0003 | 3 | 102 | 0.0294 | -2 | c.127 others(23): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 5/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 117084036 | GAA | G | intron_variant | MODIFIER | HG00099.hp1 HG01099.hp2 HG01169.hp2 others(46): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0015a0001c0001t0001g0028a0001c0001t0001g0095others(46): Show | 49 | 102 | 0.4804 | -2 | c.127 others(23): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 5/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 117108438 | AAC | A | intron_variant | MODIFIER | HG01169.hp1 HG01169.hp2 HG02615.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0015a0001c0001t0001g0034a0001c0001t0001g0095others(8): Show | 11 | 102 | 0.1078 | -2 | c.116 others(23): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 4/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 117109355 | TAA | T | intron_variant | MODIFIER | HG01081.hp2 HG01109.hp2 HG01169.hp2 others(17): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0054a0001c0001t0002g0051a0001c0001t0004g0060others(17): Show | 20 | 102 | 0.1961 | -2 | c.116 others(23): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 4/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 117116834 | CAA | C | intron_variant | MODIFIER | HG01081.hp1 HG02572.hp2 HG02965.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0011a0001c0014others(1): Show | a0001c0001t0003a0001c0001t0006a0001c0001t0009others(3): Show | a0001c0001t0003g0013a0001c0001t0006g0016a0001c0001t0009g0086others(3): Show | 6 | 102 | 0.0588 | -2 | c.116 others(23): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 4/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 117119988 | GTA | G | intron_variant | MODIFIER | HG01109.hp1 HG01261.hp1 HG02109.hp2 others(1): Show |
a0001 | a0001c0003a0001c0005a0001c0007 | a0001c0003t0001a0001c0003t0012a0001c0005t0005others(1): Show | a0001c0003t0001g0055a0001c0003t0012g0001a0001c0005t0005g0076others(1): Show | 4 | 102 | 0.0392 | -2 | c.116 others(23): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 4/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 117127672 | GTT | G | intron_variant | MODIFIER | HG01081.hp1 HG01261.hp1 HG02109.hp2 others(10): Show |
a0001 | a0001c0001a0001c0005a0001c0006others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(9): Show | a0001c0001t0002g0018a0001c0001t0003g0013a0001c0001t0005g0077others(10): Show | 13 | 102 | 0.1275 | -2 | c.116 others(23): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 4/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 117134295 | TAC | T | intron_variant | MODIFIER | HG01169.hp2 HG01261.hp2 HG01496.hp1 others(6): Show |
a0001a0003a0007 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(6): Show | a0001c0001t0002g0018a0001c0001t0005g0077a0001c0001t0006g0079others(6): Show | 9 | 102 | 0.0882 | -2 | c.116 others(21): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 4/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 117169208 | GAA | G | intron_variant | MODIFIER | HG01891.hp1 HG02886.hp2 HG02965.hp2 others(1): Show |
a0001 | a0001c0001a0001c0014a0001c0021 | a0001c0001t0001a0001c0001t0016a0001c0014t0017others(1): Show | a0001c0001t0001g0100a0001c0001t0016g0075a0001c0014t0017g0050others(1): Show | 4 | 102 | 0.0392 | -2 | c.101 others(23): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 3/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 117185548 | GCA | G | intron_variant | MODIFIER | HG02451.hp2 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0099a0001c0001t0005g0077 | 2 | 102 | 0.0196 | -2 | c.101 others(23): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 3/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 117192110 | AGT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00639.hp1 others(92): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(50): Show | a0001c0001t0001g0015a0001c0001t0001g0034a0001c0001t0001g0037others(92): Show | 95 | 102 | 0.9314 | -2 | c.101 others(23): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 3/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 117225535 | GTA | G | intron_variant | MODIFIER | HG01099.hp2 HG01934.hp2 HG02451.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0099a0001c0001t0003g0090a0001c0001t0005g0077others(6): Show | 9 | 102 | 0.0882 | -2 | c.631 others(21): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 2/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 117230116 | TAA | T | intron_variant | MODIFIER | HG00639.hp1 HG01081.hp2 HG01109.hp1 others(21): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(19): Show | a0001c0001t0001g0015a0001c0001t0002g0018a0001c0001t0004g0060others(21): Show | 24 | 102 | 0.2353 | -2 | c.631 others(21): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 2/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 117232888 | ATT | A | intron_variant | MODIFIER | HG00639.hp1 HG01109.hp2 HG01261.hp1 others(15): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(13): Show | a0001c0001t0001g0015a0001c0001t0002g0018a0001c0001t0006g0014others(15): Show | 18 | 102 | 0.1765 | -2 | c.631 others(21): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 2/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 117242004 | CTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00639.hp2 others(36): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0037a0001c0001t0002g0040a0001c0001t0003g0063others(36): Show | 39 | 102 | 0.3824 | -2 | c.631 others(21): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 2/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 117293444 | TAA | T | intron_variant | MODIFIER | HG00099.hp2 HG00735.hp2 HG01099.hp2 others(18): Show |
a0001a0006a0007 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(12): Show | a0001c0001t0002g0040a0001c0001t0003g0090a0001c0001t0006g0016others(18): Show | 21 | 102 | 0.2059 | -2 | c.443 others(19): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 1/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 117295592 | CAT | C | intron_variant | MODIFIER | HG01081.hp1 HG01891.hp2 HG02109.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(8): Show | a0001c0001t0001g0037a0001c0001t0002g0051a0001c0001t0007g0087others(8): Show | 11 | 102 | 0.1078 | -2 | c.443 others(19): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 1/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 117296277 | CAA | C | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG01081.hp2 others(43): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(29): Show | a0001c0001t0001g0015a0001c0001t0001g0028a0001c0001t0001g0034others(43): Show | 46 | 102 | 0.4510 | -2 | c.443 others(19): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 1/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 117298702 | ATG | A | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG01099.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0002t0001a0001c0002t0003others(3): Show | a0001c0001t0003g0013a0001c0001t0003g0063a0001c0002t0001g0036others(6): Show | 9 | 102 | 0.0882 | -2 | c.443 others(19): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 1/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 117298732 | GTA | G | intron_variant | MODIFIER | HG03471.hp2 NA18906.hp2 NA21309.hp1 |
a0001a0002 | a0001c0012a0002c0004 | a0001c0012t0001a0002c0004t0001a0002c0004t0006 | a0001c0012t0001g0098a0002c0004t0001g0004a0002c0004t0006g0003 | 3 | 102 | 0.0294 | -2 | c.443 others(19): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 1/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 117311229 | GAA | G | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp1 HG02109.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0015a0001c0001t0002g0051a0001c0001t0002g0070others(9): Show | 12 | 102 | 0.1177 | -2 | c.443 others(21): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 1/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 117319593 | ATT | A | intron_variant | MODIFIER | HG00639.hp1 HG01081.hp1 HG01099.hp2 others(36): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0015a0001c0001t0001g0037a0001c0001t0001g0100others(36): Show | 39 | 102 | 0.3824 | -2 | c.443 others(21): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 1/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 117326758 | CAA | C | intron_variant | MODIFIER | HG01243.hp2 HG02559.hp1 HG02559.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0008others(2): Show | a0001c0001t0002a0001c0001t0007a0001c0003t0007others(3): Show | a0001c0001t0002g0070a0001c0001t0007g0087a0001c0003t0007g0071others(3): Show | 6 | 102 | 0.0588 | -2 | c.443 others(21): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 1/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 117340331 | CAA | C | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG01099.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(9): Show | a0001c0001t0001g0015a0001c0001t0001g0095a0001c0001t0001g0099others(12): Show | 15 | 102 | 0.1471 | -2 | c.443 others(21): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 1/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 117358261 | GAC | G | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG00639.hp2 others(66): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(38): Show | a0001c0001t0001g0028a0001c0001t0001g0034a0001c0001t0001g0054others(66): Show | 69 | 102 | 0.6765 | -2 | c.442 others(21): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 1/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 117364950 | AAC | A | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG01258.hp2 others(13): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(10): Show | a0001c0001t0002g0018a0001c0001t0006g0079a0001c0001t0007g0078others(13): Show | 16 | 102 | 0.1569 | -2 | c.442 others(21): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 1/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 117364998 | CAA | C | intron_variant | MODIFIER | HG00099.hp1 HG01109.hp1 HG02004.hp1 others(7): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(7): Show | a0001c0001t0001g0100a0001c0001t0003g0063a0001c0002t0002g0059others(7): Show | 10 | 102 | 0.0980 | -2 | c.442 others(21): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 1/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 117374369 | TAA | T | intron_variant | MODIFIER | HG01081.hp1 HG01169.hp2 HG01515.hp2 others(5): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0009a0001c0002t0003others(4): Show | a0001c0001t0001g0095a0001c0001t0001g0099a0001c0001t0009g0086others(5): Show | 8 | 102 | 0.0784 | -2 | c.442 others(21): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 1/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 117398000 | CCA | C | intron_variant | MODIFIER | HG02559.hp2 HG02615.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0007 | a0001c0001t0002g0070a0001c0003t0007g0071 | 2 | 102 | 0.0196 | -2 | c.442 others(21): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 1/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 117406857 | AAC | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG01081.hp2 others(15): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0054a0001c0001t0003g0063a0001c0001t0004g0060others(15): Show | 18 | 102 | 0.1765 | -2 | c.442 others(19): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 1/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 117411446 | CAA | C | intron_variant | MODIFIER | HG01099.hp1 HG01099.hp2 HG01169.hp2 others(10): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0011others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(8): Show | a0001c0001t0001g0095a0001c0001t0001g0099a0001c0001t0003g0090others(10): Show | 13 | 102 | 0.1275 | -2 | c.442 others(19): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 1/22 | chr9 | TogoVar | ||||||
ASXL1_chr20_32353331_32444319 | 32361633 | CAA | C | intron_variant | MODIFIER | HG00544.hp2 HG01516.hp2 HG02135.hp2 others(15): Show |
a0001a0002a0003 | a0001c0002a0001c0020a0002c0003others(2): Show | a0001c0002t0002a0001c0020t0001a0002c0003t0001others(3): Show | a0001c0002t0002g0025a0001c0002t0002g0026a0001c0020t0001g0107others(15): Show | 18 | 282 | 0.0638 | -2 | c.57+ others(17): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ASXL1_chr20_32353331_32444319 | 32367077 | TAA | T | intron_variant | MODIFIER | HG00738.hp2 HG01167.hp2 HG01169.hp1 others(10): Show |
a0001a0006 | a0001c0001a0001c0008a0001c0020others(1): Show | a0001c0001t0001a0001c0008t0001a0001c0008t0004others(2): Show | a0001c0001t0001g0122a0001c0001t0001g0123a0001c0001t0001g0124others(10): Show | 13 | 282 | 0.0461 | -2 | c.140 others(17): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ASXL1_chr20_32353331_32444319 | 32370965 | TAA | T | intron_variant | MODIFIER | HG01261.hp2 HG01358.hp2 HG02300.hp1 others(16): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0022a0003c0004others(4): Show | a0001c0001t0017a0001c0022t0001a0003c0004t0003others(6): Show | a0001c0001t0017g0012a0001c0022t0001g0011a0003c0004t0003g0098others(16): Show | 19 | 282 | 0.0674 | -2 | c.252 others(19): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ASXL1_chr20_32353331_32444319 | 32378158 | TTG | T | intron_variant | MODIFIER | HG00741.hp1 HG01074.hp1 HG01109.hp1 others(15): Show |
a0001a0014 | a0001c0001a0001c0002a0014c0023 | a0001c0001t0001a0001c0001t0016a0001c0002t0002others(3): Show | a0001c0001t0001g0161a0001c0001t0001g0172a0001c0001t0001g0192others(15): Show | 18 | 282 | 0.0638 | -2 | c.252 others(19): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ASXL1_chr20_32353331_32444319 | 32384229 | CAG | C | intron_variant | MODIFIER | HG01167.hp1 HG01884.hp1 HG02258.hp1 others(12): Show |
a0001a0005a0011 | a0001c0005a0001c0026a0005c0009others(1): Show | a0001c0005t0001a0001c0005t0015a0001c0026t0001others(2): Show | a0001c0005t0001g0020a0001c0005t0001g0182a0001c0005t0001g0185others(12): Show | 15 | 282 | 0.0532 | -2 | c.252 others(21): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ASXL1_chr20_32353331_32444319 | 32397250 | CTT | C | intron_variant | MODIFIER | HG01167.hp1 HG01243.hp2 HG01884.hp1 others(12): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0008a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0016a0001c0008t0001others(5): Show | a0001c0001t0001g0134a0001c0001t0001g0135a0001c0001t0016g0176others(12): Show | 15 | 282 | 0.0532 | -2 | c.252 others(21): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ASXL1_chr20_32353331_32444319 | 32399747 | CTT | C | intron_variant | MODIFIER | HG01243.hp2 HG01256.hp2 HG01261.hp2 others(23): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0005a0001c0008others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0016others(11): Show | a0001c0001t0001g0015a0001c0001t0001g0084a0001c0001t0001g0134others(23): Show | 26 | 282 | 0.0922 | -2 | c.253 others(21): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ASXL1_chr20_32353331_32444319 | 32411215 | CTT | C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00544.hp1 others(72): Show |
a0001a0008a0010others(2): Show | a0001c0002a0008c0011a0010c0013others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(7): Show | a0001c0002t0001g0241a0001c0002t0001g0253a0001c0002t0002g0013others(72): Show | 75 | 282 | 0.2660 | -2 | c.253 others(21): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ASXL1_chr20_32353331_32444319 | 32413437 | CAA | C | intron_variant | MODIFIER | HG02486.hp1 HG02965.hp1 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0140a0001c0001t0009g0141a0001c0001t0009g0171 | 3 | 282 | 0.0106 | -2 | c.253 others(21): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ASXL1_chr20_32353331_32444319 | 32418168 | ACT | A | intron_variant | MODIFIER | HG01109.hp2 HG02109.hp2 HG02145.hp1 others(5): Show |
a0001 | a0001c0001a0001c0018 | a0001c0001t0001a0001c0001t0004a0001c0018t0001 | a0001c0001t0001g0064a0001c0001t0001g0065a0001c0001t0001g0067others(5): Show | 8 | 282 | 0.0284 | -2 | c.253 others(19): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ASXL1_chr20_32353331_32444319 | 32418809 | CTT | C | intron_variant | MODIFIER | HG01169.hp1 HG02886.hp1 HG02970.hp2 others(8): Show |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0001a0006c0007t0001 | a0001c0001t0001g0108a0001c0001t0001g0109a0001c0001t0001g0125others(8): Show | 11 | 282 | 0.0390 | -2 | c.253 others(19): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ASXL1_chr20_32353331_32444319 | 32422580 | ATT | A | intron_variant | MODIFIER | HG00323.hp1 HG01515.hp1 HG02083.hp1 others(9): Show |
a0001a0003a0010 | a0001c0002a0001c0019a0003c0004others(1): Show | a0001c0002t0002a0001c0002t0005a0001c0019t0012others(2): Show | a0001c0002t0002g0197a0001c0002t0002g0202a0001c0002t0002g0212others(9): Show | 12 | 282 | 0.0426 | -2 | c.253 others(19): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ASXL1_chr20_32353331_32444319 | 32428652 | CTT | C | intron_variant | MODIFIER | HG02165.hp2 HG02258.hp1 HG02280.hp1 others(5): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0002a0001c0005t0001 | a0001c0002t0002g0195a0001c0002t0002g0249a0001c0005t0001g0185others(5): Show | 8 | 282 | 0.0284 | -2 | c.471 others(17): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ASXL2_chr2_25728753_25883487 | 25731440 | GAA | G | downstream_gene_variant | MODIFIER | HG01074.hp1 HG02486.hp2 HG02630.hp1 |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0050 | a0001c0001t0020g0030a0001c0001t0020g0049a0001c0001t0050g0006 | 3 | 222 | 0.0135 | -2 | c.*10 others(15): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 2312 | chr2 | TogoVar | ||||||
ASXL2_chr2_25728753_25883487 | 25744935 | CCA | C | intron_variant | MODIFIER | HG00438.hp2 HG00735.hp2 HG01109.hp2 others(14): Show |
a0001a0002a0010 | a0001c0001a0001c0008a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0014a0001c0001t0017others(9): Show | a0001c0001t0001g0085a0001c0001t0001g0088a0001c0001t0001g0092others(14): Show | 17 | 222 | 0.0766 | -2 | c.186 others(19): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 12/12 | chr2 | TogoVar | ||||||
ASXL2_chr2_25728753_25883487 | 25746506 | GAA | G | intron_variant | MODIFIER | HG01496.hp1 HG02109.hp1 HG02602.hp2 others(7): Show |
a0001a0009 | a0001c0001a0009c0013 | a0001c0001t0005a0001c0001t0016a0001c0001t0019others(1): Show | a0001c0001t0005g0213a0001c0001t0005g0214a0001c0001t0005g0215others(7): Show | 10 | 222 | 0.0451 | -2 | c.186 others(21): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 12/12 | chr2 | TogoVar | ||||||
ASXL2_chr2_25728753_25883487 | 25752853 | GAA | G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00423.hp2 others(79): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0011a0001c0012others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(21): Show | a0001c0001t0002g0009a0001c0001t0002g0010a0001c0001t0002g0011others(79): Show | 82 | 222 | 0.3694 | -2 | c.114 others(19): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 11/12 | chr2 | TogoVar | ||||||
ASXL2_chr2_25728753_25883487 | 25757674 | CAA | C | intron_variant | MODIFIER | HG02109.hp1 HG02109.hp2 HG02602.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0001g0106a0001c0001t0001g0123a0001c0001t0001g0138others(17): Show | 20 | 222 | 0.0901 | -2 | c.940 others(19): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 9/12 | chr2 | TogoVar | ||||||
ASXL2_chr2_25728753_25883487 | 25757921 | CAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00438.hp1 others(67): Show |
a0001a0004a0006others(1): Show | a0001c0001a0001c0008a0004c0004others(2): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0010others(14): Show | a0001c0001t0001g0083a0001c0001t0001g0085a0001c0001t0001g0086others(67): Show | 70 | 222 | 0.3153 | -2 | c.939 others(19): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 9/12 | chr2 | TogoVar |