view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DLC1_chr8_13078361_13519851 | 13120356 | A | AAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01071.hp2 HG01081.hp2 others(9): Show |
a0001a0006a0007 | a0001c0001a0006c0007a0007c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0039others(2): Show | a0001c0001t0001g0089 a0001c0001t0001g0103 a0001c0001t0001g0115 others(9): Show |
12 | 37 | 0.3243 | 23 | c.134 others(42): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 5/17 | chr8 | TogoVar | |||||||
DLC1_chr8_13078361_13519851 | 13128901 | T | TAATTATG others(16): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(202): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0004a0001c0011others(45): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(96): Show | a0001c0001t0001g0006 a0001c0001t0001g0047 a0001c0001t0001g0059 others(202): Show |
205 | 210 | 0.9762 | 23 | c.134 others(44): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 5/17 | chr8 | TogoVar | |||||||
DLC1_chr8_13078361_13519851 | 13219380 | T | TTACATTT others(16): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00423.hp2 others(111): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0004a0001c0011others(29): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(62): Show | a0001c0001t0001g0006 a0001c0001t0001g0059 a0001c0001t0001g0068 others(111): Show |
114 | 190 | 0.6000 | 23 | c.134 others(44): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 5/17 | chr8 | TogoVar | |||||||
DLC1_chr8_13078361_13519851 | 13219385 | T | TTTCATAT others(16): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0088 | 1 | 76 | 0.0132 | 23 | c.134 others(44): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 5/17 | chr8 | TogoVar | |||||||
DLC1_chr8_13078361_13519851 | 13297282 | T | TAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG03453.hp2 HG03492.hp1 NA18970.hp2 others(2): Show |
a0001a0003a0004 | a0001c0001a0001c0004a0003c0003others(1): Show | a0001c0001t0001a0001c0004t0003a0001c0004t0016others(2): Show | a0001c0001t0001g0111 a0001c0004t0003g0125 a0001c0004t0016g0053 others(2): Show |
5 | 12 | 0.4167 | 23 | c.134 others(42): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 5/17 | chr8 | TogoVar | |||||||
DLG1_chr3_197037560_197303612 | 197127457 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0265 | 1 | 210 | 0.0048 | 23 | c.116 others(42): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 11/24 | chr3 | TogoVar | |||||||
DLG1_chr3_197037560_197303612 | 197158634 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0258 | 1 | 94 | 0.0106 | 23 | c.484 others(40): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 5/24 | chr3 | TogoVar | |||||||
DLG1_chr3_197037560_197303612 | 197231929 | A | ACTGTGAC others(16): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00609.hp1 HG00733.hp2 others(60): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0100 others(60): Show |
63 | 330 | 0.1909 | 23 | c.319 others(42): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 4/24 | chr3 | TogoVar | |||||||
DLG2_chr11_83450173_85632344 | 84307695 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0011 | 1 | 8 | 0.1250 | 23 | c.520 others(42): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 7/27 | chr11 | TogoVar | |||||||
DLG2_chr11_83450173_85632344 | 84506079 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 2 | 0.5000 | 23 | c.519 others(42): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 7/27 | chr11 | TogoVar | |||||||
DLG2_chr11_83450173_85632344 | 84624857 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0005 | 1 | 3 | 0.3333 | 23 | c.358 others(42): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 6/27 | chr11 | TogoVar | |||||||
DLG2_chr11_83450173_85632344 | 85122959 | A | ATTATATA others(16): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0013 | 1 | 10 | 0.1000 | 23 | c.283 others(42): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 5/27 | chr11 | TogoVar | |||||||
DLG4_chr17_7182187_7222627 | 7207719 | A | ACAGCACA others(16): Show |
intron_variant | MODIFIER | HG03139.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0146a0001c0001t0147 | a0001c0001t0146g0326 a0001c0001t0147g0325 |
2 | 376 | 0.0053 | 23 | c.96+ others(36): Show |
DLG4 | ENSG00000132535.22 | transcript | ENST00000399506.9 | protein_coding | 2/19 | chr17 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 3720888 | C | CCAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02895.hp1 HG03516.hp2 NA20300.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0004a0001c0002t0008a0001c0003t0033others(1): Show | a0001c0001t0004g0016 a0001c0002t0008g0037 a0001c0003t0033g0077 others(1): Show |
4 | 41 | 0.0976 | 23 | c.159 others(42): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 7/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 3741020 | C | CCACCACC others(16): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02451.hp2 HG02486.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0044 a0001c0001t0002g0017 a0001c0001t0002g0047 others(12): Show |
15 | 73 | 0.2055 | 23 | c.135 others(42): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 6/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 4082510 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0004 | a0001c0004t0032 | a0001c0004t0032g0065 | 1 | 6 | 0.1667 | 23 | c.-15 others(44): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 2/12 | chr18 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 748118 | G | GCGGGTCT others(16): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0026 | 1 | 39 | 0.0256 | 23 | c.18+ others(40): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | chr8 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 881666 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0003 | a0001c0003t0017 | a0001c0003t0017g0004 | 1 | 26 | 0.0385 | 23 | c.19- others(40): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | chr8 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 960237 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01071.hp1 HG02258.hp2 HG02818.hp2 others(3): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0011others(2): Show | a0001c0002t0002a0001c0003t0001a0001c0003t0006others(3): Show | a0001c0002t0002g0022 a0001c0003t0001g0025 a0001c0003t0006g0033 others(3): Show |
6 | 13 | 0.4615 | 23 | c.73+ others(40): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP3_chr1_34860436_34934650 | 34906016 | T | TATATATA others(16): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 15 | 0.0667 | 23 | c.-51 others(38): Show |
DLGAP3 | ENSG00000116544.12 | transcript | ENST00000373347.6 | protein_coding | 2/11 | chr1 | TogoVar | |||||||
DLGAP4_chr20_36301339_36533633 | 36525216 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0006 | a0006c0008 | a0006c0008t0027 | a0006c0008t0027g0078 | 1 | 60 | 0.0167 | 23 | c.260 others(40): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DMBX1_chr1_46484836_46521216 | 46501215 | T | TTCCTTCC others(16): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0122 | 1 | 428 | 0.0023 | 23 | c.-12 others(40): Show |
DMBX1 | ENSG00000197587.12 | transcript | ENST00000360032.4 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DMC1_chr22_38513948_38575183 | 38531885 | A | ATTAATTC others(16): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 HG03579.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 a0001c0001t0002g0017 a0001c0001t0002g0018 others(1): Show |
4 | 322 | 0.0124 | 23 | c.836 others(40): Show |
DMC1 | ENSG00000100206.11 | transcript | ENST00000216024.7 | protein_coding | 12/13 | chr22 | TogoVar | |||||||
DMC1_chr22_38513948_38575183 | 38557956 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG03195.hp2 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 a0001c0001t0001g0259 |
2 | 135 | 0.0148 | 23 | c.327 others(40): Show |
DMC1 | ENSG00000100206.11 | transcript | ENST00000216024.7 | protein_coding | 5/13 | chr22 | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31162356 | T | TAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0003 | a0003c0003 | a0003c0003t0017 | a0003c0003t0017g0087 | 1 | 11 | 0.0909 | 23 | c.105 others(44): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 74/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31816822 | A | ACACACAC others(16): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0031 | a0031c0037 | a0031c0037t0004 | a0031c0037t0004g0067 | 1 | 123 | 0.0081 | 23 | c.730 others(42): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 50/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31822653 | G | GGGTGTGT others(16): Show |
intron_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0029 | 1 | 28 | 0.0357 | 23 | c.720 others(42): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 49/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31961740 | G | GTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0003 | a0003c0008 | a0003c0008t0018 | a0003c0008t0018g0001 | 1 | 77 | 0.0130 | 23 | c.661 others(42): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 45/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31961742 | T | TTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01515.hp1 HG02647.hp1 HG02922.hp2 others(4): Show |
a0001a0002a0005others(1): Show | a0001c0002a0002c0005a0002c0013others(3): Show | a0001c0002t0002a0002c0005t0001a0002c0013t0002others(4): Show | a0001c0002t0002g0052 a0002c0005t0001g0088 a0002c0013t0002g0094 others(4): Show |
7 | 125 | 0.0560 | 23 | c.661 others(42): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 45/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32050974 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02258.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0017 | a0001c0001t0002g0019 a0003c0003t0017g0087 |
2 | 87 | 0.0230 | 23 | c.643 others(44): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 44/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32132993 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02922.hp2 |
a0002a0025 | a0002c0058a0025c0026 | a0002c0058t0003a0025c0026t0001 | a0002c0058t0003g0051 a0025c0026t0001g0126 |
2 | 14 | 0.1429 | 23 | c.643 others(44): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 44/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32280144 | G | GTATATAT others(16): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0053 | a0001c0053t0001 | a0001c0053t0001g0096 | 1 | 100 | 0.0100 | 23 | c.629 others(42): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 43/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32292302 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01934.hp1 NA18965.hp1 |
a0004a0030 | a0004c0004a0030c0047 | a0004c0004t0001a0030c0047t0013 | a0004c0004t0001g0084 a0030c0047t0013g0005 |
2 | 21 | 0.0952 | 23 | c.611 others(42): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 42/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32312942 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | NA18965.hp1 | a0030 | a0030c0047 | a0030c0047t0013 | a0030c0047t0013g0005 | 1 | 28 | 0.0357 | 23 | c.592 others(42): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 41/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32385620 | T | TAATTTTA others(16): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(96): Show |
a0001a0002a0003others(26): Show | a0001c0001a0001c0002a0001c0021others(46): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(62): Show | a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0020 others(96): Show |
99 | 126 | 0.7857 | 23 | c.467 others(40): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 33/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32628258 | A | ATTTTTTT others(16): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0026 | a0026c0024 | a0026c0024t0008 | a0026c0024t0008g0105 | 1 | 41 | 0.0244 | 23 | c.133 others(44): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 11/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32777276 | T | TGGGGGGG others(16): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0010 | a0010c0014 | a0010c0014t0001 | a0010c0014t0001g0014 | 1 | 126 | 0.0079 | 23 | c.649 others(42): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 7/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32777277 | T | TGGCGGGG others(16): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0020 | a0002c0020t0019 | a0002c0020t0019g0006 | 1 | 4 | 0.2500 | 23 | c.649 others(42): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 7/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32777277 | T | TGGGGGGG others(16): Show |
intron_variant | MODIFIER | HG02135.hp1 NA18747.hp1 NA19085.hp1 |
a0001a0003 | a0001c0001a0003c0061 | a0001c0001t0001a0001c0001t0010a0003c0061t0001 | a0001c0001t0001g0071 a0001c0001t0010g0008 a0003c0061t0001g0072 |
3 | 6 | 0.5000 | 23 | c.649 others(42): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 7/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32777277 | T | TGGGGGGG others(16): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0021 | 1 | 4 | 0.2500 | 23 | c.649 others(42): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 7/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32939204 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0077 | 1 | 126 | 0.0079 | 23 | c.93+ others(40): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32969027 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 34 | 0.0294 | 23 | c.93+ others(40): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | |||||||
DMRT1_chr9_836697_974090 | 842230 | G | GTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0303 a0001c0001t0004g0304 |
2 | 98 | 0.0204 | 23 | c.354 others(36): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DMTN_chr8_22051814_22087525 | 22079301 | T | TATATATA others(16): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 145 | 0.0069 | 23 | c.836 others(38): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 10/15 | chr8 | TogoVar | |||||||
DNAAF11_chr8_132565416_132680545 | 132669940 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0006 | a0006c0011 | a0006c0011t0009 | a0006c0011t0009g0032 | 1 | 143 | 0.0070 | 23 | c.10+ others(38): Show |
DNAAF11 | ENSG00000129295.10 | transcript | ENST00000620350.5 | protein_coding | 1/11 | chr8 | TogoVar | |||||||
DNAAF1_chr16_84140308_84182918 | 84148596 | C | CTCTCTTT others(16): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00738.hp2 HG01070.hp2 others(10): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0002g0189 a0001c0001t0003g0190 a0001c0001t0003g0191 others(10): Show |
13 | 90 | 0.1444 | 23 | c.125 others(38): Show |
DNAAF1 | ENSG00000154099.18 | transcript | ENST00000378553.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DNAAF1_chr16_84140308_84182918 | 84148596 | C | CTCTTTTT others(16): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0203 | 1 | 78 | 0.0128 | 23 | c.125 others(38): Show |
DNAAF1 | ENSG00000154099.18 | transcript | ENST00000378553.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DNAAF1_chr16_84140308_84182918 | 84148596 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG01074.hp2 others(47): Show |
a0001a0002a0004others(7): Show | a0001c0001a0001c0008a0002c0002others(9): Show | a0001c0001t0002a0001c0008t0001a0002c0002t0001others(10): Show | a0001c0001t0002g0250 a0001c0001t0002g0261 a0001c0001t0002g0263 others(43): Show |
50 | 127 | 0.3937 | 23 | c.125 others(38): Show |
DNAAF1 | ENSG00000154099.18 | transcript | ENST00000378553.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DNAAF3_chr19_55153665_55171613 | 55170873 | T | TCTCTCTC others(16): Show |
upstream_gene_variant | MODIFIER | HG02818.hp2 HG02895.hp2 NA18943.hp1 others(3): Show |
a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0002 a0003c0002t0001g0006 a0003c0002t0001g0008 others(2): Show |
6 | 388 | 0.0155 | 23 | c.-43 others(34): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 4261 | chr19 | TogoVar | |||||||
DNAAF9_chr20_3244306_3412669 | 3252809 | G | GGAACCTC others(16): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0205 | 1 | 360 | 0.0028 | 23 | c.342 others(40): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 36/36 | chr20 | TogoVar |