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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DMD_chrX_31114222_33216549 | 32214224 | TAAAAAAA | T | intron_variant | MODIFIER | HG00280.hp1 HG00609.hp1 HG00621.hp1 others(86): Show |
a0001a0002a0003others(27): Show | a0001c0001a0001c0002a0001c0022others(43): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(60): Show | a0001c0001t0001g0026a0001c0001t0001g0037a0001c0001t0001g0054others(86): Show | 89 | 126 | 0.7064 | -7 | c.643 others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 44/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32261907 | GTTGTAAA | G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01069.hp1 others(14): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0002c0005others(10): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0026others(13): Show | a0001c0001t0001g0008a0001c0001t0001g0069a0001c0001t0004g0101others(14): Show | 17 | 126 | 0.1349 | -7 | c.629 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 43/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32280158 | ATATACAG | A | intron_variant | MODIFIER | HG03710.hp1 HG03942.hp1 NA18944.hp1 others(3): Show |
a0001a0026 | a0001c0001a0001c0002a0026c0042 | a0001c0001t0001a0001c0001t0008a0001c0002t0001others(1): Show | a0001c0001t0001g0037a0001c0001t0001g0076a0001c0001t0008g0021others(3): Show | 6 | 126 | 0.0476 | -7 | c.629 others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 43/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32312942 | CAAAAAAA | C | intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0009 | a0002c0009t0010 | a0002c0009t0010g0023 | 1 | 126 | 0.0079 | -7 | c.592 others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 41/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32419873 | AAGCATTG | A | intron_variant | MODIFIER | HG01074.hp1 HG01167.hp1 HG01255.hp1 others(28): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0002a0002c0005others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(27): Show | a0001c0001t0001g0037a0001c0001t0002g0032a0001c0002t0001g0115others(28): Show | 31 | 126 | 0.2460 | -7 | c.407 others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 29/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32518997 | CTTTTTTT | C | intron_variant | MODIFIER | HG02922.hp1 NA19043.hp1 |
a0005a0010 | a0005c0007a0010c0031 | a0005c0007t0002a0010c0031t0001 | a0005c0007t0002g0093a0010c0031t0001g0096 | 2 | 126 | 0.0159 | -7 | c.216 others(24): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 17/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32529379 | CTTTTTTT | C | intron_variant | MODIFIER | HG00673.hp1 HG00738.hp1 HG01261.hp1 others(7): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0005a0003c0008others(6): Show | a0001c0001t0004a0001c0001t0008a0002c0005t0001others(7): Show | a0001c0001t0004g0101a0001c0001t0008g0021a0002c0005t0001g0022others(7): Show | 10 | 126 | 0.0794 | -7 | c.216 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 17/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32553451 | TTATTGGG | T | intron_variant | MODIFIER | HG00621.hp1 HG02257.hp2 HG02258.hp1 others(9): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0002c0020others(7): Show | a0001c0001t0001a0001c0002t0001a0002c0020t0030others(8): Show | a0001c0001t0001g0037a0001c0001t0001g0062a0001c0002t0001g0074others(9): Show | 12 | 126 | 0.0952 | -7 | c.199 others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 16/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32585699 | CAAAAAAA | C | intron_variant | MODIFIER | HG02293.hp2 HG02717.hp1 HG02723.hp1 others(6): Show |
a0002a0003a0005others(5): Show | a0002c0009a0003c0008a0003c0014others(6): Show | a0002c0009t0001a0003c0008t0012a0003c0014t0010others(6): Show | a0002c0009t0001g0065a0003c0008t0012g0117a0003c0014t0010g0015others(6): Show | 9 | 126 | 0.0714 | -7 | c.160 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 13/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32628289 | TTTTTTTA | T | intron_variant | MODIFIER | HG02895.hp1 | a0002 | a0002c0059 | a0002c0059t0012 | a0002c0059t0012g0055 | 1 | 126 | 0.0079 | -7 | c.133 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 11/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32679902 | CTTTTTTT | C | intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0009 | a0002c0009t0010 | a0002c0009t0010g0023 | 1 | 126 | 0.0079 | -7 | c.960 others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 9/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32759853 | GGGGGGGC | G | intron_variant | MODIFIER | HG00642.hp1 HG01109.hp1 HG01952.hp1 others(1): Show |
a0001a0002a0004 | a0001c0001a0002c0009a0004c0004 | a0001c0001t0001a0002c0009t0010a0004c0004t0001 | a0001c0001t0001g0018a0002c0009t0010g0023a0004c0004t0001g0064others(1): Show | 4 | 126 | 0.0318 | -7 | c.649 others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 7/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32778867 | GTCATGTA | G | intron_variant | MODIFIER | HG02145.hp1 HG02451.hp1 HG02572.hp1 others(7): Show |
a0002a0003a0010others(5): Show | a0002c0020a0003c0008a0003c0014others(6): Show | a0002c0020t0028a0002c0020t0030a0003c0008t0012others(7): Show | a0002c0020t0028g0010a0002c0020t0030g0125a0003c0008t0012g0117others(7): Show | 10 | 126 | 0.0794 | -7 | c.649 others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 7/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32819005 | GTTTTTTT | G | intron_variant | MODIFIER | NA18988.hp1 | a0004 | a0004c0011 | a0004c0011t0002 | a0004c0011t0002g0035 | 1 | 126 | 0.0079 | -7 | c.358 others(24): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 5/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32885827 | GAAAAAAA | G | intron_variant | MODIFIER | NA19068.hp1 | a0006 | a0006c0032 | a0006c0032t0003 | a0006c0032t0003g0077 | 1 | 126 | 0.0079 | -7 | c.94- others(24): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32887745 | CAAAAAAA | C | intron_variant | MODIFIER | HG01256.hp1 HG01358.hp1 |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0002 | a0003c0003t0001g0033a0003c0003t0002g0043 | 2 | 126 | 0.0159 | -7 | c.94- others(24): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32927363 | CTTTTTTT | C | intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0056 | 1 | 126 | 0.0079 | -7 | c.94- others(24): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32951421 | TATGATTC | T | intron_variant | MODIFIER | NA18984.hp1 | a0031 | a0031c0047 | a0031c0047t0005 | a0031c0047t0005g0081 | 1 | 126 | 0.0079 | -7 | c.93+ others(24): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32969027 | CAAAAAAA | C | intron_variant | MODIFIER | HG01255.hp1 HG02965.hp1 |
a0002 | a0002c0012a0002c0052 | a0002c0012t0002a0002c0052t0025 | a0002c0012t0002g0122a0002c0052t0025g0095 | 2 | 126 | 0.0159 | -7 | c.93+ others(24): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32980368 | CAAAAAAA | C | intron_variant | MODIFIER | HG01256.hp1 HG02965.hp1 HG03195.hp2 others(3): Show |
a0002a0003a0010 | a0002c0009a0002c0020a0002c0052others(3): Show | a0002c0009t0010a0002c0020t0030a0002c0052t0025others(3): Show | a0002c0009t0010g0023a0002c0020t0030g0125a0002c0052t0025g0095others(3): Show | 6 | 126 | 0.0476 | -7 | c.93+ others(24): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33024982 | CACTAGTT | C | intron_variant | MODIFIER | HG01258.hp1 | a0020 | a0020c0034 | a0020c0034t0001 | a0020c0034t0001g0013 | 1 | 126 | 0.0079 | -7 | c.32- others(22): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33026313 | CAAAAAAA | C | intron_variant | MODIFIER | HG00738.hp1 HG01243.hp1 HG01256.hp1 others(11): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0009a0003c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(9): Show | a0001c0001t0001g0026a0001c0001t0001g0054a0001c0001t0002g0024others(11): Show | 14 | 126 | 0.1111 | -7 | c.32- others(22): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33124476 | GAAAAAAA | G | intron_variant | MODIFIER | HG02895.hp1 | a0002 | a0002c0059 | a0002c0059t0012 | a0002c0059t0012g0055 | 1 | 126 | 0.0079 | -7 | c.31+ others(24): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33129325 | CTTTTTTT | C | intron_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0012 | a0002c0012t0002 | a0002c0012t0002g0098 | 1 | 126 | 0.0079 | -7 | c.31+ others(24): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33190859 | AATATTAT | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(81): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0002a0001c0022others(41): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(60): Show | a0001c0001t0001g0008a0001c0001t0001g0018a0001c0001t0001g0026others(81): Show | 84 | 126 | 0.6667 | -7 | c.31+ others(24): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33190923 | TAATATTA | T | intron_variant | MODIFIER | HG03139.hp1 | a0005 | a0005c0045 | a0005c0045t0018 | a0005c0045t0018g0118 | 1 | 126 | 0.0079 | -7 | c.31+ others(24): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
DMRT1_chr9_836697_974090 | 956571 | AAAAAAAC | A | intron_variant | MODIFIER | HG00597.hp1 HG00735.hp1 HG01109.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0007t0004others(3): Show | a0001c0001t0001g0166a0001c0001t0001g0179a0001c0001t0001g0243others(9): Show | 12 | 306 | 0.0392 | -7 | c.968 others(26): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DMRTC1_chrX_72867025_72948837 | 72879143 | GTTTGTTT | G | intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0001 | 1 | 54 | 0.0185 | -7 | c.-94 others(24): Show |
DMRTC1 | ENSG00000269502.6 | transcript | ENST00000615063.2 | protein_coding | 1/6 | chrX | TogoVar | ||||||
DMRTC1_chrX_72867025_72948837 | 72893164 | CAACAAAA | C | intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0039 | 1 | 54 | 0.0185 | -7 | c.-94 others(26): Show |
DMRTC1 | ENSG00000269502.6 | transcript | ENST00000615063.2 | protein_coding | 1/6 | chrX | TogoVar | ||||||
DMRTC2_chr19_41840042_41857333 | 41854287 | CAGATAAT | C | downstream_gene_variant | MODIFIER | HG01981.hp2 HG02922.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0004 | 3 | 402 | 0.0075 | -7 | c.*25 others(18): Show |
DMRTC2 | ENSG00000142025.16 | transcript | ENST00000269945.8 | protein_coding | 1955 | chr19 | TogoVar | ||||||
DMTN_chr8_22051814_22087525 | 22065827 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(244): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(217): Show | 247 | 324 | 0.7624 | -7 | c.-17 others(24): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DMTN_chr8_22051814_22087525 | 22071087 | TTTATTTA | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(219): Show |
a0001a0003a0005 | a0001c0001a0003c0004a0005c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(10): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(195): Show | 222 | 324 | 0.6852 | -7 | c.604 others(22): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DMXL2_chr15_51442791_51627771 | 51552263 | AGGAGAAC | A | intron_variant | MODIFIER | HG01255.hp2 HG04204.hp1 NA18939.hp1 others(22): Show |
a0002a0017 | a0002c0004a0017c0024 | a0002c0004t0001a0002c0004t0008a0017c0024t0001 | a0002c0004t0001g0006a0002c0004t0001g0297a0002c0004t0001g0298others(21): Show | 25 | 346 | 0.0723 | -7 | c.568 others(24): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 6/43 | chr15 | TogoVar | ||||||
DNA2_chr10_68409064_68476973 | 68437662 | CAAAAACA | C | intron_variant | MODIFIER | HG00639.hp2 HG03130.hp1 HG03209.hp1 others(3): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0022 | a0001c0001t0011a0001c0002t0001a0001c0002t0010others(2): Show | a0001c0001t0011g0199a0001c0002t0001g0139a0001c0002t0001g0140others(3): Show | 6 | 326 | 0.0184 | -7 | c.141 others(24): Show |
DNA2 | ENSG00000138346.16 | transcript | ENST00000358410.8 | protein_coding | 9/20 | chr10 | TogoVar | ||||||
DNA2_chr10_68409064_68476973 | 68461828 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp2 HG00544.hp2 others(76): Show |
a0001a0005 | a0001c0002a0001c0007a0001c0010others(2): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(9): Show | a0001c0002t0001g0093a0001c0002t0001g0094a0001c0002t0001g0095others(76): Show | 79 | 326 | 0.2423 | -7 | c.588 others(24): Show |
DNA2 | ENSG00000138346.16 | transcript | ENST00000358410.8 | protein_coding | 4/20 | chr10 | TogoVar | ||||||
DNAAF10_chr2_68124805_68162527 | 68126985 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02258.hp1 HG02280.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0053 | a0001c0001t0008g0020a0001c0001t0008g0036a0001c0001t0008g0084others(3): Show | 9 | 432 | 0.0208 | -7 | c.*42 others(18): Show |
DNAAF10 | ENSG00000243667.7 | transcript | ENST00000295121.11 | protein_coding | 2819 | chr2 | TogoVar | ||||||
DNAAF4_chr15_55425308_55513234 | 55428484 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00558.hp1 others(49): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0008c0008 | a0001c0001t0001a0002c0002t0001a0008c0008t0001 | a0001c0001t0001g0006a0001c0001t0001g0063a0001c0001t0001g0115others(49): Show | 52 | 338 | 0.1539 | -7 | c.*21 others(18): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 1823 | chr15 | TogoVar | ||||||
DNAAF4_chr15_55425308_55513234 | 55447779 | AGAGAGGG | A | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02257.hp2 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0261a0001c0001t0002g0262a0001c0001t0002g0263others(14): Show | 17 | 338 | 0.0503 | -7 | c.783 others(24): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 6/9 | chr15 | TogoVar | ||||||
DNAAF4_chr15_55425308_55513234 | 55483833 | CTTTTTTT | C | intron_variant | MODIFIER | HG01167.hp2 HG02280.hp1 HG02451.hp2 others(9): Show |
a0004a0005 | a0004c0005a0005c0004 | a0004c0005t0005a0005c0004t0003 | a0004c0005t0005g0288a0005c0004t0003g0323a0005c0004t0003g0324others(9): Show | 12 | 338 | 0.0355 | -7 | c.405 others(24): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 4/9 | chr15 | TogoVar | ||||||
DNAAF6_chrX_107201611_107249247 | 107204752 | AAATAAAT | A | upstream_gene_variant | MODIFIER | HG02280.hp2 HG02630.hp1 HG02647.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0015a0001c0001t0001g0039a0001c0001t0001g0140others(4): Show | 9 | 296 | 0.0304 | -7 | c.-19 others(18): Show |
DNAAF6 | ENSG00000080572.14 | transcript | ENST00000372453.8 | protein_coding | 1858 | chrX | TogoVar | ||||||
DNAAF6_chrX_107201611_107249247 | 107204776 | AAATAAAT | A | upstream_gene_variant | MODIFIER | HG02080.hp1 HG03486.hp2 HG03540.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0209a0001c0001t0001g0210a0001c0001t0002g0003others(9): Show | 13 | 296 | 0.0439 | -7 | c.-19 others(18): Show |
DNAAF6 | ENSG00000080572.14 | transcript | ENST00000372453.8 | protein_coding | 1834 | chrX | TogoVar | ||||||
DNAAF6_chrX_107201611_107249247 | 107204784 | TTTAAATA | T | upstream_gene_variant | MODIFIER | HG02280.hp2 HG02630.hp1 HG02647.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0015a0001c0001t0001g0039a0001c0001t0001g0140others(4): Show | 9 | 296 | 0.0304 | -7 | c.-19 others(18): Show |
DNAAF6 | ENSG00000080572.14 | transcript | ENST00000372453.8 | protein_coding | 1826 | chrX | TogoVar | ||||||
DNAAF6_chrX_107201611_107249247 | 107204808 | TTTAAATA | T | upstream_gene_variant | MODIFIER | HG02080.hp1 HG03486.hp2 HG03540.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0209a0001c0001t0001g0210a0001c0001t0002g0003others(9): Show | 13 | 296 | 0.0439 | -7 | c.-18 others(18): Show |
DNAAF6 | ENSG00000080572.14 | transcript | ENST00000372453.8 | protein_coding | 1802 | chrX | TogoVar | ||||||
DNAAF6_chrX_107201611_107249247 | 107229127 | CTTTTTTT | C | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 296 | 0.0034 | -7 | c.429 others(24): Show |
DNAAF6 | ENSG00000080572.14 | transcript | ENST00000372453.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DNAAF9_chr20_3244306_3412669 | 3317360 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(59): Show |
a0001a0005a0010others(1): Show | a0001c0003a0005c0022a0010c0019others(1): Show | a0001c0003t0004a0001c0003t0005a0001c0003t0012others(5): Show | a0001c0003t0004g0007a0001c0003t0004g0011a0001c0003t0004g0013others(59): Show | 62 | 362 | 0.1713 | -7 | c.146 others(24): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 17/36 | chr20 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3370081 | CTGGAAGG | C | intron_variant | MODIFIER | HG00735.hp2 HG02818.hp2 NA20129.hp1 |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0007a0001c0003t0004g0053a0001c0003t0004g0054 | 3 | 362 | 0.0083 | -7 | c.612 others(24): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 6/36 | chr20 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3389320 | ATTTTTTT | A | intron_variant | MODIFIER | HG00408.hp1 HG02080.hp1 HG02486.hp2 others(4): Show |
a0001 | a0001c0003a0001c0020 | a0001c0003t0006a0001c0020t0024 | a0001c0003t0006g0008a0001c0003t0006g0009a0001c0003t0006g0348others(4): Show | 7 | 362 | 0.0193 | -7 | c.84- others(22): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 1/36 | chr20 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123915209 | GCCTCTCC | G | intron_variant | MODIFIER | HG00738.hp1 HG01071.hp2 HG01169.hp2 others(33): Show |
a0001a0004a0005others(14): Show | a0001c0001a0001c0003a0004c0006others(17): Show | a0001c0001t0001a0001c0003t0002a0004c0006t0001others(17): Show | a0001c0001t0001g0025a0001c0001t0001g0026a0001c0003t0002g0049others(33): Show | 36 | 170 | 0.2118 | -7 | c.107 others(26): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 62/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21726860 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00423.hp2 others(105): Show |
a0001a0002a0004others(84): Show | a0001c0001a0001c0002a0001c0051others(97): Show | a0001c0001t0004a0001c0002t0004a0001c0051t0004others(97): Show | a0001c0001t0004g0253a0001c0001t0004g0277a0001c0002t0004g0296others(105): Show | 108 | 298 | 0.3624 | -7 | c.744 others(24): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 45/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21728237 | CTTTTTTT | C | intron_variant | MODIFIER | HG01109.hp2 HG02109.hp1 HG02280.hp2 others(9): Show |
a0017a0036a0075others(9): Show | a0017c0016a0036c0229a0075c0034others(9): Show | a0017c0016t0003a0036c0229t0005a0075c0034t0001others(9): Show | a0017c0016t0003g0172a0036c0229t0005g0207a0075c0034t0001g0004others(9): Show | 12 | 298 | 0.0403 | -7 | c.744 others(26): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 45/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |