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 | 1449839 | AACTAT | A | intron_variant | MODIFIER | NA18971.hp2 | a0000 | a0000c0007 | a0000c0007t0001 | a0000c0007t0001g0086 | 1 | 185 | 0.0054 | -5 | c.93+ others(20): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 1/12 | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1627633 | CGAAAT | C | intron_variant | MODIFIER | HG01891.hp2 HG02293.hp1 HG02451.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(1): Show | a0001c0001t0001g0035a0001c0001t0001g0203a0001c0001t0001g0212others(3): Show | 6 | 223 | 0.0269 | -5 | c.375 others(18): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ASMT_chrX_1610059_1648081 | 1635425 | ATCTGG | A | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0134 | 1 | 223 | 0.0045 | -5 | c.788 others(22): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 7/8 | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1641562 | CACCCA | C | intron_variant | MODIFIER | NA19072.hp2 | a0010 | a0010c0015 | a0010c0015t0002 | a0010c0015t0002g0179 | 1 | 223 | 0.0045 | -5 | c.911 others(22): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1644220 | TTATTA | T | downstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 223 | 0.0045 | -5 | c.*12 others(16): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 1140 | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1646658 | CTTTCT | C | downstream_gene_variant | MODIFIER | HG01361.hp1 NA19057.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0124a0002c0002t0002g0172 | 2 | 223 | 0.0090 | -5 | c.*36 others(16): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 3578 | chrX | TogoVar | ||||||
ASNSD1_chr2_189656459_189675831 | 189669452 | TATAAC | T | intron_variant | MODIFIER | HG01891.hp1 HG02280.hp2 HG02630.hp1 others(6): Show |
a0001 | a0001c0002a0001c0008 | a0001c0002t0001a0001c0008t0001 | a0001c0002t0001g0016a0001c0002t0001g0030a0001c0002t0001g0057others(3): Show | 9 | 340 | 0.0265 | -5 | c.164 others(22): Show |
ASNSD1 | ENSG00000138381.10 | transcript | ENST00000260952.9 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ASNSD1_chr2_189656459_189675831 | 189672749 | GCTACT | G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(332): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0002a0001c0007others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0006others(126): Show | 335 | 340 | 0.9853 | -5 | c.*20 others(16): Show |
ASNSD1 | ENSG00000138381.10 | transcript | ENST00000260952.9 | protein_coding | 1919 | chr2 | TogoVar | ||||||
ASNSD1_chr2_189656459_189675831 | 189675241 | TAAATC | T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0008others(11): Show | 50 | 340 | 0.1471 | -5 | c.*45 others(16): Show |
ASNSD1 | ENSG00000138381.10 | transcript | ENST00000260952.9 | protein_coding | 4411 | chr2 | TogoVar | ||||||
ASPHD2_chr22_26424260_26450015 | 26435710 | TAAAAG | T | intron_variant | MODIFIER | HG00408.hp1 HG00673.hp2 HG01358.hp1 others(40): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0061a0001c0001t0002g0006a0001c0001t0002g0036others(22): Show | 43 | 428 | 0.1005 | -5 | c.886 others(22): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ASPH_chr8_61495556_61719592 | 61621331 | AAAAAG | A | intron_variant | MODIFIER | HG00558.hp2 HG00609.hp1 HG00621.hp1 others(100): Show |
a0001a0003a0006others(1): Show | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(18): Show | a0001c0001t0001g0019a0001c0001t0001g0078a0001c0001t0001g0079others(99): Show | 103 | 258 | 0.3992 | -5 | c.935 others(22): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 13/24 | chr8 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61628323 | CTTTTT | C | intron_variant | MODIFIER | HG01496.hp2 HG02145.hp2 HG02895.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(1): Show | a0001c0001t0001g0117a0001c0001t0005g0076a0001c0001t0005g0090others(2): Show | 5 | 258 | 0.0194 | -5 | c.934 others(22): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 13/24 | chr8 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61667958 | TATAAC | T | intron_variant | MODIFIER | HG01074.hp1 HG01496.hp2 HG01928.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0085a0001c0001t0002g0122a0001c0001t0006g0127others(2): Show | 5 | 258 | 0.0194 | -5 | c.322 others(24): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 3/24 | chr8 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61704194 | CAAAAA | C | intron_variant | MODIFIER | HG02015.hp2 HG02055.hp1 HG04184.hp2 others(9): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0005a0001c0001t0021others(1): Show | a0001c0001t0001g0130a0001c0001t0001g0131a0001c0001t0001g0132others(9): Show | 12 | 258 | 0.0465 | -5 | c.103 others(24): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 1/24 | chr8 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61706425 | AAAAAG | A | intron_variant | MODIFIER | HG01192.hp2 HG02630.hp1 HG02717.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0018a0001c0001t0001g0071a0001c0001t0002g0015others(3): Show | 6 | 258 | 0.0233 | -5 | c.103 others(22): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 1/24 | chr8 | TogoVar | ||||||
ASPM_chr1_197079127_197151669 | 197089006 | AATAAC | A | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00639.hp2 others(61): Show |
a0002a0016a0024others(3): Show | a0002c0002a0002c0040a0016c0023others(4): Show | a0002c0002t0001a0002c0002t0007a0002c0040t0001others(5): Show | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0010others(41): Show | 64 | 296 | 0.2162 | -5 | c.998 others(22): Show |
ASPM | ENSG00000066279.19 | transcript | ENST00000367409.9 | protein_coding | 25/27 | chr1 | TogoVar | ||||||
ASPM_chr1_197079127_197151669 | 197126463 | AAAAAG | A | intron_variant | MODIFIER | HG01099.hp1 HG01175.hp2 HG02148.hp2 others(8): Show |
a0001a0002a0009others(1): Show | a0001c0001a0001c0003a0001c0008others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0008t0001others(4): Show | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0003t0001g0033others(7): Show | 11 | 296 | 0.0372 | -5 | c.293 others(24): Show |
ASPM | ENSG00000066279.19 | transcript | ENST00000367409.9 | protein_coding | 10/27 | chr1 | TogoVar | ||||||
ASPM_chr1_197079127_197151669 | 197136540 | GAAGTT | G | intron_variant | MODIFIER | HG02818.hp2 HG02976.hp1 HG03041.hp1 |
a0006 | a0006c0013 | a0006c0013t0004 | a0006c0013t0004g0045a0006c0013t0004g0046a0006c0013t0004g0047 | 3 | 296 | 0.0101 | -5 | c.202 others(24): Show |
ASPM | ENSG00000066279.19 | transcript | ENST00000367409.9 | protein_coding | 4/27 | chr1 | TogoVar | ||||||
ASPM_chr1_197079127_197151669 | 197137964 | TTTATC | T | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 HG02965.hp1 others(1): Show |
a0013a0014 | a0013c0025a0014c0024 | a0013c0025t0004a0014c0024t0004 | a0013c0025t0004g0022a0014c0024t0004g0090a0014c0024t0004g0091 | 4 | 296 | 0.0135 | -5 | c.202 others(24): Show |
ASPM | ENSG00000066279.19 | transcript | ENST00000367409.9 | protein_coding | 4/27 | chr1 | TogoVar | ||||||
ASPSCR1_chr17_81972629_82022406 | 81982790 | CTCTTT | C | intron_variant | MODIFIER | HG01884.hp2 HG02280.hp1 HG02630.hp2 others(4): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0002 | a0001c0001t0001g0050a0001c0008t0002g0009a0001c0008t0002g0211others(2): Show | 7 | 366 | 0.0191 | -5 | c.159 others(20): Show |
ASPSCR1 | ENSG00000169696.16 | transcript | ENST00000306739.9 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ASRGL1_chr11_62332448_62398412 | 62333423 | TTTTTG | T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(206): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(204): Show | 209 | 370 | 0.5649 | -5 | c.-42 others(16): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4024 | chr11 | TogoVar | ||||||
ASRGL1_chr11_62332448_62398412 | 62357224 | CTTTTG | C | intron_variant | MODIFIER | HG02258.hp1 HG02970.hp2 HG03492.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0009a0002c0004t0035 | a0001c0001t0001g0066a0001c0001t0009g0347a0002c0004t0035g0183 | 3 | 370 | 0.0081 | -5 | c.491 others(20): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ASRGL1_chr11_62332448_62398412 | 62362709 | ATATAT | A | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00544.hp2 others(90): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0204a0001c0001t0002g0002a0001c0001t0002g0003others(89): Show | 93 | 370 | 0.2514 | -5 | c.491 others(22): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ASRGL1_chr11_62332448_62398412 | 62362730 | AAATAT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(83): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(9): Show | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0003g0004others(83): Show | 86 | 370 | 0.2324 | -5 | c.491 others(22): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ASRGL1_chr11_62332448_62398412 | 62362891 | ATTTTT | A | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG01070.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0201a0001c0001t0002g0214a0001c0001t0002g0215others(15): Show | 18 | 370 | 0.0487 | -5 | c.491 others(22): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ASRGL1_chr11_62332448_62398412 | 62364420 | GATAAA | G | intron_variant | MODIFIER | HG01074.hp2 HG01168.hp2 HG01169.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0228a0001c0001t0002g0231a0001c0001t0002g0232others(4): Show | 7 | 370 | 0.0189 | -5 | c.491 others(22): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ASS1_chr9_130439961_130506274 | 130465049 | TATATA | T | intron_variant | MODIFIER | HG01433.hp1 HG02523.hp2 HG02922.hp1 others(3): Show |
a0001a0003 | a0001c0002a0001c0003a0003c0008others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(2): Show | a0001c0002t0001g0050a0001c0002t0001g0188a0001c0002t0002g0176others(3): Show | 6 | 374 | 0.0160 | -5 | c.420 others(20): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 5/14 | chr9 | TogoVar | ||||||
ASS1_chr9_130439961_130506274 | 130465051 | TATATA | T | intron_variant | MODIFIER | HG02145.hp2 HG02615.hp2 HG02970.hp2 others(7): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0008 | a0001c0001t0001a0001c0002t0001a0003c0008t0001 | a0001c0001t0001g0135a0001c0001t0001g0136a0001c0001t0001g0137others(6): Show | 10 | 374 | 0.0267 | -5 | c.420 others(20): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 5/14 | chr9 | TogoVar | ||||||
ASTE1_chr3_131008875_131031825 | 131017992 | AAAAAG | A | intron_variant | MODIFIER | HG00597.hp1 HG00609.hp2 HG00741.hp1 others(22): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0002a0002c0003t0002 | a0001c0002t0002g0006a0001c0002t0002g0026a0001c0002t0002g0042others(2): Show | 25 | 404 | 0.0619 | -5 | c.151 others(22): Show |
ASTE1 | ENSG00000034533.12 | transcript | ENST00000264992.8 | protein_coding | 4/5 | chr3 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 176864687 | TGTCAA | T | intron_variant | MODIFIER | HG00639.hp1 HG00673.hp2 HG02257.hp1 others(2): Show |
a0003 | a0003c0010 | a0003c0010t0006 | a0003c0010t0006g0030a0003c0010t0006g0031a0003c0010t0006g0038others(2): Show | 5 | 112 | 0.0446 | -5 | c.364 others(22): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 22/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 177078944 | CAATTT | C | intron_variant | MODIFIER | HG00140.hp1 NA20752.hp2 |
a0001a0003 | a0001c0001a0003c0010 | a0001c0001t0002a0003c0010t0006 | a0001c0001t0002g0041a0003c0010t0006g0043 | 2 | 112 | 0.0179 | -5 | c.284 others(24): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 1/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 177159066 | CAAAAA | C | intron_variant | MODIFIER | HG00408.hp1 HG00673.hp2 HG01070.hp1 others(31): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0017others(16): Show | a0001c0001t0001g0014a0001c0001t0001g0016a0001c0001t0001g0023others(31): Show | 34 | 112 | 0.3036 | -5 | c.283 others(22): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 1/22 | chr1 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116423756 | CTTTGT | C | 3_prime_UTR_variant | MODIFIER | HG02559.hp1 HG02615.hp1 HG03139.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0007a0001c0003t0007 | a0001c0001t0007g0078a0001c0001t0007g0087a0001c0003t0007g0071others(1): Show | 4 | 102 | 0.0392 | -5 | c.*20 others(16): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 23/23 | 2090 | chr9 | TogoVar | |||||
ASTN2_chr9_116418112_117420057 | 116429339 | GAAAAA | G | intron_variant | MODIFIER | HG02698.hp2 HG03239.hp1 NA19065.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0008a0001c0002t0008a0001c0009t0008 | a0001c0001t0008g0008a0001c0001t0008g0065a0001c0002t0008g0024others(1): Show | 4 | 102 | 0.0392 | -5 | c.378 others(24): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 22/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116477856 | AAAAAG | A | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG00735.hp2 others(45): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(31): Show | a0001c0001t0001g0028a0001c0001t0002g0040a0001c0001t0002g0051others(45): Show | 48 | 102 | 0.4706 | -5 | c.349 others(24): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 20/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116498424 | AAAAAC | A | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02109.hp1 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(8): Show | a0001c0001t0001g0015a0001c0001t0001g0028a0001c0001t0001g0095others(11): Show | 14 | 102 | 0.1373 | -5 | c.335 others(26): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116557456 | TAAATG | T | intron_variant | MODIFIER | HG02809.hp1 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0037a0001c0001t0005g0035 | 2 | 102 | 0.0196 | -5 | c.335 others(26): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116577537 | AAAAAG | A | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG01109.hp1 others(18): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(10): Show | a0001c0001t0001g0034a0001c0001t0001g0037a0001c0001t0001g0095others(18): Show | 21 | 102 | 0.2059 | -5 | c.335 others(26): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116659185 | TATTTG | T | intron_variant | MODIFIER | HG00639.hp1 HG01891.hp1 HG02109.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0011others(2): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0016others(8): Show | a0001c0001t0001g0015a0001c0001t0001g0028a0001c0001t0001g0100others(10): Show | 13 | 102 | 0.1275 | -5 | c.280 others(24): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 16/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116704811 | TTAAAG | T | intron_variant | MODIFIER | HG00735.hp1 HG01109.hp1 HG01169.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(7): Show | a0001c0001t0001g0034a0001c0001t0001g0037a0001c0001t0001g0099others(12): Show | 15 | 102 | 0.1471 | -5 | c.280 others(26): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 16/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116801585 | CAAAAA | C | intron_variant | MODIFIER | HG01169.hp1 HG01261.hp1 HG02109.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(3): Show | a0001c0001t0001g0034a0001c0001t0002g0070a0001c0001t0007g0078others(4): Show | 7 | 102 | 0.0686 | -5 | c.239 others(24): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 13/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116802083 | CTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG01243.hp2 HG01256.hp1 others(18): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(16): Show | a0001c0001t0001g0054a0001c0001t0001g0099a0001c0001t0005g0035others(18): Show | 21 | 102 | 0.2059 | -5 | c.239 others(24): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 13/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116836570 | AGTTTT | A | intron_variant | MODIFIER | HG00099.hp1 HG01081.hp2 HG01099.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0017others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0034a0001c0001t0001g0054a0001c0001t0003g0063others(12): Show | 15 | 102 | 0.1471 | -5 | c.204 others(26): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 11/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116839881 | ATTTTT | A | intron_variant | MODIFIER | HG01261.hp1 HG02559.hp1 HG02572.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0006a0001c0001t0007a0001c0003t0007others(2): Show | a0001c0001t0006g0079a0001c0001t0007g0078a0001c0001t0007g0087others(3): Show | 6 | 102 | 0.0588 | -5 | c.204 others(26): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 11/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116843516 | AGGGGT | A | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG01243.hp1 others(11): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0007others(5): Show | a0001c0001t0008a0001c0002t0001a0001c0002t0002others(7): Show | a0001c0001t0008g0065a0001c0002t0001g0042a0001c0002t0001g0057others(11): Show | 14 | 102 | 0.1373 | -5 | c.204 others(26): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 11/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116865423 | CAAAAA | C | intron_variant | MODIFIER | HG00735.hp2 HG01496.hp1 HG02572.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(4): Show | a0001c0001t0002g0040a0001c0001t0005g0035a0001c0001t0008g0065others(4): Show | 7 | 102 | 0.0686 | -5 | c.189 others(24): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 10/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116867549 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00735.hp2 others(27): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0028a0001c0001t0001g0054a0001c0001t0001g0099others(27): Show | 30 | 102 | 0.2941 | -5 | c.189 others(24): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 10/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 117013484 | ATATTT | A | intron_variant | MODIFIER | HG01258.hp2 HG01496.hp2 HG01934.hp2 others(10): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(6): Show | a0001c0001t0001g0015a0001c0001t0001g0100a0001c0002t0001g0033others(10): Show | 13 | 102 | 0.1275 | -5 | c.142 others(24): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 6/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 117017230 | CTCTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00639.hp2 others(57): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0034a0001c0001t0001g0037a0001c0001t0001g0054others(57): Show | 60 | 102 | 0.5882 | -5 | c.142 others(24): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 6/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 117060459 | AGGAAG | A | intron_variant | MODIFIER | NA19011.hp2 NA19065.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0002t0002 | a0001c0001t0008g0008a0001c0002t0002g0059 | 2 | 102 | 0.0196 | -5 | c.127 others(26): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 5/22 | chr9 | TogoVar |