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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DIP2C_chr10_269201_694668 | 322535 | T | TTAGAACA others(40): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0062 | 1 | 88 | 0.0114 | 47 | c.392 others(66): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 31/36 | chr10 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 322927 | T | TTAGAACA others(40): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0062 | 1 | 88 | 0.0114 | 47 | c.392 others(66): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 31/36 | chr10 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 323475 | C | CAGTCAGT others(40): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02300.hp1 NA18962.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0072a0001c0002t0001g0056a0001c0002t0002g0055others(1): Show | 4 | 88 | 0.0455 | 47 | c.392 others(66): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 31/36 | chr10 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 429271 | T | TCCCCCCC others(40): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 88 | 0.0114 | 47 | c.395 others(64): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 4/36 | chr10 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 584712 | G | GCGACCTG others(40): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01515.hp1 HG02280.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0002t0001others(7): Show | a0001c0001t0002g0004a0001c0001t0002g0025a0001c0001t0003g0075others(9): Show | 12 | 88 | 0.1364 | 47 | c.86- others(64): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
DIS3L_chr15_66288568_66338898 | 66309094 | A | AAAAATAT others(40): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0320 | 1 | 400 | 0.0025 | 47 | c.558 others(62): Show |
DIS3L | ENSG00000166938.13 | transcript | ENST00000319212.9 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
DLAT_chr11_112020408_112069404 | 112067685 | A | AAAAAAAA others(40): Show |
downstream_gene_variant | MODIFIER | HG02976.hp2 | a0007 | a0007c0008 | a0007c0008t0003 | a0007c0008t0003g0195 | 1 | 336 | 0.0030 | 47 | c.*51 others(58): Show |
DLAT | ENSG00000150768.18 | transcript | ENST00000280346.11 | protein_coding | 3282 | chr11 | TogoVar | ||||||
DLC1_chr8_13078361_13519851 | 13479830 | A | AGAAAAAG others(40): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(42): Show |
a0001a0002a0011others(3): Show | a0001c0001a0001c0004a0001c0011others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(21): Show | a0001c0001t0001g0047a0001c0001t0001g0082a0001c0001t0001g0090others(42): Show | 45 | 212 | 0.2123 | 47 | c.102 others(68): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 2/17 | chr8 | TogoVar | ||||||
DLC1_chr8_13078361_13519851 | 13479833 | A | AGAAAAAG others(40): Show |
intron_variant | MODIFIER | HG03654.hp2 NA19070.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0053a0002c0002t0002 | a0001c0001t0053g0212a0002c0002t0002g0123 | 2 | 212 | 0.0094 | 47 | c.102 others(68): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 2/17 | chr8 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38053567 | C | CGGGAGGT others(40): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0217 | 1 | 298 | 0.0034 | 47 | c.563 others(64): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
DLEC1_chr3_38034208_38129025 | 38084521 | A | AGTAGTAG others(40): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0219 | 1 | 298 | 0.0034 | 47 | c.126 others(64): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
DLG2_chr11_83450173_85632344 | 83753883 | T | TATCATAT others(40): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0011 | a0001c0001t0010g0014a0001c0001t0011g0013 | 2 | 14 | 0.1429 | 47 | c.182 others(68): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 18/27 | chr11 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1247512 | G | GGAGTGAT others(40): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0032 | 1 | 40 | 0.0250 | 47 | c.74- others(64): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1247759 | G | GGAGTGAT others(40): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0002 | a0002c0001 | a0002c0001t0005 | a0002c0001t0005g0035 | 1 | 40 | 0.0250 | 47 | c.74- others(64): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1417628 | C | CCTCCAGG others(40): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0012 | a0001c0012t0004 | a0001c0012t0004g0036 | 1 | 40 | 0.0250 | 47 | c.107 others(66): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1417639 | G | GCACGGGG others(40): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0002 | a0002c0001 | a0002c0001t0003 | a0002c0001t0003g0017 | 1 | 40 | 0.0250 | 47 | c.107 others(66): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1417697 | C | CCACTCCT others(40): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0011 | 1 | 40 | 0.0250 | 47 | c.107 others(66): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1449802 | C | CGTGAAGA others(40): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0031 | 1 | 40 | 0.0250 | 47 | c.107 others(66): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1449841 | A | AGCGGAGC others(40): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02895.hp1 HG03516.hp2 |
a0001a0003 | a0001c0003a0003c0005 | a0001c0003t0001a0003c0005t0004 | a0001c0003t0001g0026a0001c0003t0001g0027a0003c0005t0004g0037 | 3 | 40 | 0.0750 | 47 | c.107 others(66): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1449926 | G | GGTGGCTG others(40): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0011 | a0001c0011t0015 | a0001c0011t0015g0002 | 1 | 40 | 0.0250 | 47 | c.107 others(66): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1450442 | C | CGGCCTCG others(40): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0021 | 1 | 40 | 0.0250 | 47 | c.107 others(66): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DMD_chrX_31114222_33216549 | 32335640 | C | CATAACAT others(40): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0008 | a0008c0010 | a0008c0010t0009 | a0008c0010t0009g0004 | 1 | 126 | 0.0079 | 47 | c.592 others(66): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 41/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32335640 | C | CATAACAT others(40): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00621.hp1 others(82): Show |
a0001a0002a0003others(25): Show | a0001c0001a0001c0002a0001c0022others(38): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(54): Show | a0001c0001t0001g0008a0001c0001t0001g0018a0001c0001t0001g0026others(82): Show | 85 | 126 | 0.6746 | 47 | c.592 others(66): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 41/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32335672 | T | TATGTATA others(40): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02258.hp1 HG02723.hp1 others(4): Show |
a0003a0005a0010others(1): Show | a0003c0003a0003c0008a0005c0057others(3): Show | a0003c0003t0027a0003c0008t0012a0003c0008t0023others(4): Show | a0003c0003t0027g0091a0003c0008t0012g0117a0003c0008t0023g0005others(4): Show | 7 | 126 | 0.0556 | 47 | c.592 others(66): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 41/78 | chrX | TogoVar | ||||||
DMRT1_chr9_836697_974090 | 915745 | A | ATATTTTT others(40): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0002 | a0002c0005 | a0002c0005t0005 | a0002c0005t0005g0023 | 1 | 306 | 0.0033 | 47 | c.823 others(64): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DNAAF5_chr7_721699_791475 | 782170 | C | CGCCTCCC others(40): Show |
intron_variant | MODIFIER | HG02280.hp2 NA19240.hp1 |
a0011a0012 | a0011c0029a0012c0018 | a0011c0029t0010a0012c0018t0010 | a0011c0029t0010g0119a0012c0018t0010g0120 | 2 | 378 | 0.0053 | 47 | c.243 others(66): Show |
DNAAF5 | ENSG00000164818.16 | transcript | ENST00000297440.11 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAAF5_chr7_721699_791475 | 782348 | G | GCGGCGTG others(40): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0002 | a0002c0002 | a0002c0002t0016 | a0002c0002t0016g0251 | 1 | 378 | 0.0027 | 47 | c.243 others(66): Show |
DNAAF5 | ENSG00000164818.16 | transcript | ENST00000297440.11 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAAF5_chr7_721699_791475 | 782395 | C | CTGGCGTG others(40): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0288 | 1 | 378 | 0.0027 | 47 | c.243 others(66): Show |
DNAAF5 | ENSG00000164818.16 | transcript | ENST00000297440.11 | protein_coding | 12/12 | chr7 | TogoVar | ||||||
DNAAF5_chr7_721699_791475 | 782649 | C | CACGCGGC others(40): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02155.hp2 HG03130.hp2 others(3): Show |
a0002 | a0002c0002a0002c0017a0002c0025 | a0002c0002t0001a0002c0017t0001a0002c0025t0001 | a0002c0002t0001g0245a0002c0002t0001g0273a0002c0002t0001g0275others(3): Show | 6 | 378 | 0.0159 | 47 | c.243 others(66): Show |
DNAAF5 | ENSG00000164818.16 | transcript | ENST00000297440.11 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123910707 | C | CAAGGGAC others(40): Show |
intron_variant | MODIFIER | HG01243.hp2 NA20300.hp2 |
a0041a0066 | a0041c0060a0066c0095 | a0041c0060t0001a0066c0095t0001 | a0041c0060t0001g0043a0066c0095t0001g0169 | 2 | 170 | 0.0118 | 47 | c.101 others(64): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123912143 | G | GGGGGGGT others(40): Show |
intron_variant | MODIFIER | NA18522.hp2 NA19030.hp2 |
a0020 | a0020c0022 | a0020c0022t0001 | a0020c0022t0001g0120a0020c0022t0001g0121 | 2 | 170 | 0.0118 | 47 | c.101 others(66): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21789798 | T | TTTCTTTC others(40): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0146 | a0146c0118 | a0146c0118t0001 | a0146c0118t0001g0045 | 1 | 298 | 0.0034 | 47 | c.100 others(66): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 61/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21789808 | T | TCTTTCTT others(40): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0297 | 1 | 298 | 0.0034 | 47 | c.100 others(66): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 61/81 | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21789808 | T | TCTTTCTT others(40): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0209 | a0209c0234 | a0209c0234t0005 | a0209c0234t0005g0212 | 1 | 298 | 0.0034 | 47 | c.100 others(66): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 61/81 | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21789808 | T | TCTTTCTT others(40): Show |
intron_variant | MODIFIER | HG01258.hp2 HG01496.hp2 HG03017.hp1 others(1): Show |
a0011a0033a0181others(1): Show | a0011c0006a0033c0021a0181c0265others(1): Show | a0011c0006t0002a0033c0021t0004a0181c0265t0003others(1): Show | a0011c0006t0002g0248a0033c0021t0004g0152a0181c0265t0003g0147others(1): Show | 4 | 298 | 0.0134 | 47 | c.100 others(66): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 61/81 | chr7 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7725440 | A | ATATATAT others(40): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0005 | a0005c0027 | a0005c0027t0001 | a0005c0027t0001g0134 | 1 | 316 | 0.0032 | 47 | c.229 others(64): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 3/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH2_chr17_7712744_7838742 | 7725440 | A | ATATATAT others(40): Show |
intron_variant | MODIFIER | NA18985.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0224 | 1 | 316 | 0.0032 | 47 | c.229 others(64): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 3/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH2_chr17_7712744_7838742 | 7725440 | A | ATATATAT others(40): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02135.hp1 NA18952.hp2 others(2): Show |
a0003a0007a0010others(2): Show | a0003c0123a0007c0019a0010c0017others(2): Show | a0003c0123t0009a0007c0019t0002a0010c0017t0002others(2): Show | a0003c0123t0009g0143a0007c0019t0002g0041a0010c0017t0002g0042others(2): Show | 5 | 316 | 0.0158 | 47 | c.229 others(64): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 3/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH3_chr16_20928111_21155846 | 21067772 | G | GGGGGGGA others(40): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 | 1 | 234 | 0.0043 | 47 | c.324 others(64): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 23/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 21067772 | G | GGGGGGGA others(40): Show |
intron_variant | MODIFIER | NA19083.hp1 | a0042 | a0042c0082 | a0042c0082t0001 | a0042c0082t0001g0225 | 1 | 234 | 0.0043 | 47 | c.324 others(64): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 23/61 | chr16 | TogoVar | ||||||
DNAI7_chr12_25103289_25200160 | 25120317 | G | GAGAGAGA others(40): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 336 | 0.0030 | 47 | c.124 others(66): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 11/15 | chr12 | TogoVar | ||||||
DNAJB6_chr7_157332004_157422439 | 157357261 | T | TTCCTTTC others(40): Show |
intron_variant | MODIFIER | HG02258.hp1 NA20129.hp1 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0010a0003c0006t0001 | a0001c0001t0010g0336a0003c0006t0001g0337 | 2 | 372 | 0.0054 | 47 | c.-26 others(64): Show |
DNAJB6 | ENSG00000105993.15 | transcript | ENST00000262177.9 | protein_coding | 1/9 | chr7 | TogoVar | ||||||
DNAJC4_chr11_64225548_64239281 | 64237126 | G | GAGAGAGA others(40): Show |
downstream_gene_variant | MODIFIER | HG00673.hp2 NA18959.hp2 NA18962.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 338 | 0.0118 | 47 | c.*29 others(58): Show |
DNAJC4 | ENSG00000110011.14 | transcript | ENST00000628077.3 | protein_coding | 2846 | chr11 | TogoVar | ||||||
DNAJC4_chr11_64225548_64239281 | 64237126 | G | GAGAGAGA others(40): Show |
downstream_gene_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 338 | 0.0030 | 47 | c.*29 others(58): Show |
DNAJC4 | ENSG00000110011.14 | transcript | ENST00000628077.3 | protein_coding | 2846 | chr11 | TogoVar | ||||||
DNASE1L1_chrX_154396236_154414254 | 154396712 | A | ATATATAT others(40): Show |
downstream_gene_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0008 | 1 | 279 | 0.0036 | 47 | c.*59 others(58): Show |
DNASE1L1 | ENSG00000013563.14 | transcript | ENST00000369807.6 | protein_coding | 4523 | chrX | TogoVar | ||||||
DNM3_chr1_171836498_172417717 | 172389304 | G | GATTGATC others(40): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0002 | a0001c0002t0031 | a0001c0002t0031g0047 | 1 | 136 | 0.0074 | 47 | c.252 others(64): Show |
DNM3 | ENSG00000197959.15 | transcript | ENST00000627582.3 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNMT3A_chr2_25222874_25346925 | 25300659 | A | ATATATAT others(40): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0057 | a0001c0001t0057g0218 | 1 | 294 | 0.0034 | 47 | c.73- others(60): Show |
DNMT3A | ENSG00000119772.19 | transcript | ENST00000321117.10 | protein_coding | 2/22 | chr2 | TogoVar | ||||||
DNMT3A_chr2_25222874_25346925 | 25300671 | A | ATATATCT others(40): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0004 | a0001c0004t0198 | a0001c0004t0198g0214 | 1 | 294 | 0.0034 | 47 | c.73- others(60): Show |
DNMT3A | ENSG00000119772.19 | transcript | ENST00000321117.10 | protein_coding | 2/22 | chr2 | TogoVar | ||||||
DOCK1_chr10_126900428_127457516 | 127093239 | C | CTTTCTTT others(40): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0108 | 1 | 136 | 0.0074 | 47 | c.244 others(68): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 23/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DOCK5_chr8_25179689_25420711 | 25210041 | T | TATATGTA others(40): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0004 | a0001c0004t0051 | a0001c0004t0051g0174 | 1 | 210 | 0.0048 | 47 | c.43+ others(64): Show |
DOCK5 | ENSG00000147459.18 | transcript | ENST00000276440.12 | protein_coding | 1/51 | chr8 | TogoVar |