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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASMTL_chrX_1398139_1457909 | 1448266 | CACACAAC others(7): Show |
C | intron_variant | MODIFIER | NA18993.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0163 | 1 | 185 | 0.0054 | -14 | c.93+ others(29): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 1/12 | chrX | TogoVar | ||||||
ASNSD1_chr2_189656459_189675831 | 189665596 | GTGTATAT others(7): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG01106.hp2 others(26): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0088a0001c0001t0002g0002a0001c0001t0002g0041others(6): Show | 29 | 340 | 0.0853 | -14 | c.-93 others(29): Show |
ASNSD1 | ENSG00000138381.10 | transcript | ENST00000260952.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ASPHD1_chr16_29895488_29911056 | 29900313 | CGCCCCGC others(7): Show |
C | upstream_gene_variant | MODIFIER | HG01243.hp2 HG02559.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 3 | 394 | 0.0076 | -14 | c.-65 others(23): Show |
ASPHD1 | ENSG00000174939.11 | transcript | ENST00000308748.10 | protein_coding | 174 | chr16 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61704194 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 258 | 0.0039 | -14 | c.103 others(33): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 1/24 | chr8 | TogoVar | ||||||
ASPM_chr1_197079127_197151669 | 197126454 | AAAAAAAA others(7): Show |
A | intron_variant | MODIFIER | HG03139.hp2 NA19043.hp1 |
a0020 | a0020c0019 | a0020c0019t0001 | a0020c0019t0001g0031 | 2 | 296 | 0.0068 | -14 | c.293 others(33): Show |
ASPM | ENSG00000066279.19 | transcript | ENST00000367409.9 | protein_coding | 10/27 | chr1 | TogoVar | ||||||
ASPRV1_chr2_69955089_69966631 | 69962199 | GACACACA others(7): Show |
G | upstream_gene_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 464 | 0.0022 | -14 | c.-77 others(23): Show |
ASPRV1 | ENSG00000244617.3 | transcript | ENST00000320256.6 | protein_coding | 569 | chr2 | TogoVar | ||||||
ASRGL1_chr11_62332448_62398412 | 62362891 | ATTTTTTT others(7): Show |
A | intron_variant | MODIFIER | HG02572.hp2 HG02818.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0176a0001c0001t0003g0181a0001c0001t0003g0182 | 3 | 370 | 0.0081 | -14 | c.491 others(31): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ASRGL1_chr11_62332448_62398412 | 62375428 | TTATATAT others(7): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00544.hp1 others(32): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0018others(31): Show | 35 | 370 | 0.0946 | -14 | c.492 others(33): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ASRGL1_chr11_62332448_62398412 | 62375468 | ATATATAT others(7): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG03491.hp2 HG03492.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0003 | a0001c0001t0003g0141a0001c0001t0003g0149a0001c0001t0003g0165others(4): Show | 7 | 370 | 0.0189 | -14 | c.492 others(33): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ASRGL1_chr11_62332448_62398412 | 62395759 | CTTTTTTT others(7): Show |
C | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00738.hp1 HG01069.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0010a0001c0001t0026 | a0001c0001t0005g0354a0001c0001t0005g0355a0001c0001t0005g0356others(15): Show | 18 | 370 | 0.0487 | -14 | c.*34 others(25): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 2348 | chr11 | TogoVar | ||||||
ASRGL1_chr11_62332448_62398412 | 62396398 | CTCTTCTG others(7): Show |
C | downstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0349 | 1 | 370 | 0.0027 | -14 | c.*41 others(25): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 2987 | chr11 | TogoVar | ||||||
ASS1_chr9_130439961_130506274 | 130501278 | AGTGTGTG others(7): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(77): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0014others(75): Show | 80 | 374 | 0.2139 | -14 | c.*25 others(23): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 5 | chr9 | TogoVar | ||||||
ASS1_chr9_130439961_130506274 | 130504308 | AATCCCAT others(7): Show |
A | downstream_gene_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 374 | 0.0027 | -14 | c.*32 others(25): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 3035 | chr9 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 176942818 | GTGTATAT others(7): Show |
G | intron_variant | MODIFIER | HG02615.hp2 HG02809.hp2 HG03130.hp2 others(3): Show |
a0001 | a0001c0002a0001c0005a0001c0009others(1): Show | a0001c0002t0002a0001c0005t0005a0001c0009t0005others(1): Show | a0001c0002t0002g0084a0001c0005t0005g0059a0001c0005t0005g0102others(3): Show | 6 | 112 | 0.0536 | -14 | c.237 others(33): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 14/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 177002376 | AACACACA others(7): Show |
A | intron_variant | MODIFIER | HG01071.hp1 HG01192.hp2 HG01993.hp1 |
a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0042a0002c0004t0003g0060a0002c0004t0003g0061 | 3 | 112 | 0.0268 | -14 | c.152 others(35): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 8/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 177027713 | AGTGTGTG others(7): Show |
A | intron_variant | MODIFIER | HG01123.hp1 NA20752.hp1 |
a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0089a0002c0004t0003g0095 | 2 | 112 | 0.0179 | -14 | c.112 others(33): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 5/22 | chr1 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116530138 | TATATATA others(7): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG03540.hp2 NA18906.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0022 | a0001c0001t0005a0001c0003t0006a0001c0022t0001 | a0001c0001t0005g0096a0001c0003t0006g0017a0001c0003t0006g0026others(1): Show | 4 | 102 | 0.0392 | -14 | c.335 others(35): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116565379 | CTCTCTCT others(7): Show |
C | intron_variant | MODIFIER | HG02698.hp2 HG03239.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0002t0008 | a0001c0001t0008g0065a0001c0002t0008g0024 | 2 | 102 | 0.0196 | -14 | c.335 others(35): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116565381 | CTCTCTCC others(7): Show |
C | intron_variant | MODIFIER | HG03017.hp2 HG03130.hp2 NA19065.hp2 |
a0001 | a0001c0001a0001c0008a0001c0023 | a0001c0001t0008a0001c0008t0005a0001c0023t0002 | a0001c0001t0008g0008a0001c0008t0005g0081a0001c0023t0002g0069 | 3 | 102 | 0.0294 | -14 | c.335 others(35): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116565383 | CTCTCCAT others(7): Show |
C | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0009 | a0001c0009t0008 | a0001c0009t0008g0088 | 1 | 102 | 0.0098 | -14 | c.335 others(35): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116565385 | CTCCATAT others(7): Show |
C | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0008 | a0001c0008t0005 | a0001c0008t0005g0073 | 1 | 102 | 0.0098 | -14 | c.335 others(35): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116565387 | CCATATAT others(7): Show |
C | intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0017 | a0001c0017t0002 | a0001c0017t0002g0089 | 1 | 102 | 0.0098 | -14 | c.335 others(35): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116607670 | AACACACA others(7): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00735.hp1 HG01109.hp1 others(7): Show |
a0001a0005a0007 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0001g0037a0001c0001t0003g0063a0001c0001t0005g0035others(7): Show | 10 | 102 | 0.0980 | -14 | c.335 others(35): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116608582 | GTTTGAAC others(7): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG01109.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(8): Show | a0001c0001t0001g0034a0001c0001t0001g0037a0001c0001t0001g0100others(13): Show | 16 | 102 | 0.1569 | -14 | c.335 others(33): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116623147 | CTGTGTGT others(7): Show |
C | intron_variant | MODIFIER | HG01081.hp1 HG02965.hp2 |
a0001 | a0001c0001a0001c0014 | a0001c0001t0009a0001c0014t0017 | a0001c0001t0009g0086a0001c0014t0017g0050 | 2 | 102 | 0.0196 | -14 | c.307 others(33): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 17/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116626154 | GTTTTTTT others(7): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02451.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0012others(1): Show | a0001c0001t0001a0001c0001t0016a0001c0003t0001others(3): Show | a0001c0001t0001g0028a0001c0001t0016g0075a0001c0003t0001g0038others(3): Show | 6 | 102 | 0.0588 | -14 | c.307 others(33): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 17/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116707285 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0044 | 1 | 102 | 0.0098 | -14 | c.280 others(35): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 16/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116847020 | AAAAAAAC others(7): Show |
A | intron_variant | MODIFIER | HG01081.hp1 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0015a0001c0001t0009g0086 | 2 | 102 | 0.0196 | -14 | c.204 others(35): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 11/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116852878 | TACACACA others(7): Show |
T | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0085 | 1 | 102 | 0.0098 | -14 | c.204 others(35): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 11/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116861214 | TACACACA others(7): Show |
T | intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0042 | 1 | 102 | 0.0098 | -14 | c.204 others(33): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 11/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116889720 | TACACACA others(7): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG01243.hp2 HG01258.hp2 others(12): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0005a0001c0001t0007a0001c0002t0001others(10): Show | a0001c0001t0005g0077a0001c0001t0007g0087a0001c0002t0001g0057others(12): Show | 15 | 102 | 0.1471 | -14 | c.189 others(35): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 10/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116964216 | GGTGTGTG others(7): Show |
G | intron_variant | MODIFIER | HG01515.hp2 HG03017.hp2 |
a0001a0003 | a0001c0023a0003c0016 | a0001c0023t0002a0003c0016t0004 | a0001c0023t0002g0069a0003c0016t0004g0027 | 2 | 102 | 0.0196 | -14 | c.188 others(35): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 10/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116999548 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp2 |
a0001 | a0001c0002a0001c0008 | a0001c0002t0002a0001c0008t0005 | a0001c0002t0002g0046a0001c0008t0005g0073 | 2 | 102 | 0.0196 | -14 | c.159 others(33): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 7/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 117109343 | TAAATAAA others(7): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG01099.hp1 others(8): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0009others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(5): Show | a0001c0001t0001g0034a0001c0002t0001g0057a0001c0002t0001g0093others(8): Show | 11 | 102 | 0.1078 | -14 | c.116 others(35): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 4/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 117120012 | GTGTGTGT others(7): Show |
G | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0075 | 1 | 102 | 0.0098 | -14 | c.116 others(35): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 4/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 117134285 | TATATATA others(7): Show |
T | intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0090 | 1 | 102 | 0.0098 | -14 | c.116 others(33): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 4/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 117134289 | TATATATA others(7): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG01169.hp1 NA20300.hp2 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0003a0001c0009t0008 | a0001c0001t0001g0034a0001c0001t0003g0063a0001c0009t0008g0088 | 3 | 102 | 0.0294 | -14 | c.116 others(33): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 4/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 117134291 | TATATACA others(7): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG03471.hp2 |
a0001a0002 | a0001c0008a0002c0004 | a0001c0008t0005a0002c0004t0001 | a0001c0008t0005g0073a0002c0004t0001g0004 | 2 | 102 | 0.0196 | -14 | c.116 others(33): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 4/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 117188180 | GAGAGAGA others(7): Show |
G | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0098 | 1 | 102 | 0.0098 | -14 | c.101 others(35): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 3/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 117225535 | GTATATAT others(7): Show |
G | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0003 | a0001c0003t0014 | a0001c0003t0014g0083 | 1 | 102 | 0.0098 | -14 | c.631 others(33): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 2/22 | chr9 | TogoVar | ||||||
ASXL1_chr20_32353331_32444319 | 32378158 | TTGTGTGT others(7): Show |
T | intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0017 | 1 | 282 | 0.0036 | -14 | c.252 others(31): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ASXL1_chr20_32353331_32444319 | 32399745 | CTCTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG00733.hp2 HG01515.hp1 HG01934.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0005 | a0001c0002t0002g0216a0001c0002t0002g0233a0001c0002t0002g0234others(4): Show | 7 | 282 | 0.0248 | -14 | c.253 others(33): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ASXL1_chr20_32353331_32444319 | 32412648 | GGCAATGG others(7): Show |
G | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 |
a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0099a0003c0004t0003g0100 | 2 | 282 | 0.0071 | -14 | c.253 others(33): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ASXL1_chr20_32353331_32444319 | 32418809 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG01099.hp1 HG03540.hp1 NA19054.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0005 | a0001c0002t0002g0252a0001c0002t0002g0269a0001c0002t0005g0259 | 3 | 282 | 0.0106 | -14 | c.253 others(31): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ASXL2_chr2_25728753_25883487 | 25744935 | CCACACAC others(7): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02280.hp1 HG02451.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0024others(1): Show | a0001c0001t0001g0098a0001c0001t0001g0144a0001c0001t0001g0145others(7): Show | 10 | 222 | 0.0451 | -14 | c.186 others(31): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 12/12 | chr2 | TogoVar | ||||||
ASXL2_chr2_25728753_25883487 | 25762665 | GAAAAAAA others(7): Show |
G | intron_variant | MODIFIER | HG03579.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0084a0001c0001t0018g0222 | 2 | 222 | 0.0090 | -14 | c.776 others(31): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 8/12 | chr2 | TogoVar | ||||||
ASXL2_chr2_25728753_25883487 | 25772729 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02602.hp2 HG02647.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0019 | a0001c0001t0005g0213a0001c0001t0005g0214a0001c0001t0005g0215others(5): Show | 8 | 222 | 0.0360 | -14 | c.404 others(31): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 5/12 | chr2 | TogoVar | ||||||
ASXL3_chr18_33573219_33756195 | 33616398 | CTGTGTGT others(7): Show |
C | intron_variant | MODIFIER | HG01071.hp1 HG01433.hp2 HG01928.hp1 others(26): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0008a0001c0016others(6): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(15): Show | a0001c0001t0002g0207a0001c0001t0002g0208a0001c0001t0002g0209others(26): Show | 29 | 220 | 0.1318 | -14 | c.137 others(31): Show |
ASXL3 | ENSG00000141431.14 | transcript | ENST00000269197.12 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ASXL3_chr18_33573219_33756195 | 33713234 | TTTTGTTT others(7): Show |
T | intron_variant | MODIFIER | HG02922.hp2 HG03017.hp2 |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0060 | a0001c0001t0022g0176a0001c0001t0060g0193 | 2 | 220 | 0.0091 | -14 | c.880 others(33): Show |
ASXL3 | ENSG00000141431.14 | transcript | ENST00000269197.12 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ASZ1_chr7_117358222_117432493 | 117379133 | TTATATAT others(7): Show |
T | intron_variant | MODIFIER | NA19091.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0140 | 1 | 306 | 0.0033 | -14 | c.105 others(31): Show |
ASZ1 | ENSG00000154438.8 | transcript | ENST00000284629.7 | protein_coding | 10/12 | chr7 | TogoVar |