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 | 32627148 | G | GCCCCC | intron_variant | MODIFIER | HG02976.hp2 | a0005 | a0005c0057 | a0005c0057t0001 | a0005c0057t0001g0109 | 1 | 126 | 0.0079 | 5 | c.133 others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 11/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32628258 | A | ATTTTT | intron_variant | MODIFIER | HG02083.hp1 HG02717.hp1 HG02738.hp1 |
a0001a0008a0012 | a0001c0002a0008c0010a0012c0040 | a0001c0002t0001a0008c0010t0009a0012c0040t0001 | a0001c0002t0001g0025a0008c0010t0009g0004a0012c0040t0001g0048 | 3 | 126 | 0.0238 | 5 | c.133 others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 11/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32649558 | T | TAAAAA | intron_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0026 | a0002c0026t0006 | a0002c0026t0006g0111 | 1 | 126 | 0.0079 | 5 | c.961 others(22): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 9/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32679902 | C | CTTTTT | intron_variant | MODIFIER | HG00609.hp1 HG04204.hp1 |
a0007a0015 | a0007c0019a0015c0056 | a0007c0019t0001a0015c0056t0021 | a0007c0019t0001g0052a0015c0056t0021g0045 | 2 | 126 | 0.0159 | 5 | c.960 others(24): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 9/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32686559 | C | CAAAAA | intron_variant | MODIFIER | HG02723.hp1 | a0003 | a0003c0008 | a0003c0008t0012 | a0003c0008t0012g0117 | 1 | 126 | 0.0079 | 5 | c.960 others(24): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 9/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32708285 | G | GTTTTT | intron_variant | MODIFIER | HG01928.hp1 HG02293.hp1 |
a0001a0005 | a0001c0022a0005c0023 | a0001c0022t0001a0005c0023t0020 | a0001c0022t0001g0036a0005c0023t0020g0110 | 2 | 126 | 0.0159 | 5 | c.650 others(22): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 7/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32754182 | G | GTATTT | intron_variant | MODIFIER | HG00642.hp1 HG01109.hp1 HG01928.hp1 others(32): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0022a0002c0005others(26): Show | a0001c0001t0001a0001c0022t0001a0002c0005t0007others(28): Show | a0001c0001t0001g0018a0001c0001t0001g0026a0001c0001t0001g0037others(32): Show | 35 | 126 | 0.2778 | 5 | c.650 others(24): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 7/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32754768 | T | TGTTAA | intron_variant | MODIFIER | HG01928.hp1 HG02293.hp1 |
a0001a0005 | a0001c0022a0005c0023 | a0001c0022t0001a0005c0023t0020 | a0001c0022t0001g0036a0005c0023t0020g0110 | 2 | 126 | 0.0159 | 5 | c.649 others(24): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 7/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32759843 | T | TGGGGC | intron_variant | MODIFIER | NA18977.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0067 | 1 | 126 | 0.0079 | 5 | c.649 others(24): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 7/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32759843 | T | TGGGGG | intron_variant | MODIFIER | HG02293.hp1 | a0005 | a0005c0023 | a0005c0023t0020 | a0005c0023t0020g0110 | 1 | 126 | 0.0079 | 5 | c.649 others(24): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 7/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32807122 | T | TAAAAA | intron_variant | MODIFIER | HG02723.hp1 | a0003 | a0003c0008 | a0003c0008t0012 | a0003c0008t0012g0117 | 1 | 126 | 0.0079 | 5 | c.649 others(22): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 7/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32809943 | A | AGAAAG | intron_variant | MODIFIER | HG02055.hp1 | a0003 | a0003c0008 | a0003c0008t0015 | a0003c0008t0015g0123 | 1 | 126 | 0.0079 | 5 | c.531 others(20): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 6/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32811178 | T | TAAAAA | intron_variant | MODIFIER | HG02922.hp1 | a0005 | a0005c0007 | a0005c0007t0002 | a0005c0007t0002g0093 | 1 | 126 | 0.0079 | 5 | c.531 others(22): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 6/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32817306 | T | TGTACA | intron_variant | MODIFIER | HG02257.hp2 HG02258.hp1 HG02293.hp2 |
a0002a0003 | a0002c0009a0003c0003a0003c0008 | a0002c0009t0001a0003c0003t0027a0003c0008t0023 | a0002c0009t0001g0065a0003c0003t0027g0091a0003c0008t0023g0005 | 3 | 126 | 0.0238 | 5 | c.358 others(20): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 5/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32819005 | G | GTTTTT | intron_variant | MODIFIER | HG02647.hp1 | a0002 | a0002c0005 | a0002c0005t0007 | a0002c0005t0007g0092 | 1 | 126 | 0.0079 | 5 | c.358 others(22): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 5/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32819025 | T | TTTTTC | intron_variant | MODIFIER | NA18977.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0067 | 1 | 126 | 0.0079 | 5 | c.358 others(22): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 5/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32827065 | C | CCCACA | intron_variant | MODIFIER | HG02647.hp1 HG02723.hp1 HG03195.hp2 others(1): Show |
a0002a0003a0005 | a0002c0005a0002c0009a0003c0008others(1): Show | a0002c0005t0007a0002c0009t0010a0003c0008t0012others(1): Show | a0002c0005t0007g0092a0002c0009t0010g0023a0003c0008t0012g0117others(1): Show | 4 | 126 | 0.0318 | 5 | c.265 others(22): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 4/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32827065 | C | CCCCCA | intron_variant | MODIFIER | HG02055.hp1 HG02895.hp1 HG03209.hp1 others(1): Show |
a0002a0003a0004 | a0002c0026a0002c0059a0003c0008others(1): Show | a0002c0026t0006a0002c0059t0012a0003c0008t0015others(1): Show | a0002c0026t0006g0111a0002c0059t0012g0055a0003c0008t0015g0123others(1): Show | 4 | 126 | 0.0318 | 5 | c.265 others(22): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 4/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32863509 | C | CAAAAA | intron_variant | MODIFIER | HG02257.hp2 HG02717.hp1 HG02922.hp1 |
a0003a0005a0008 | a0003c0008a0005c0007a0008c0010 | a0003c0008t0023a0005c0007t0002a0008c0010t0009 | a0003c0008t0023g0005a0005c0007t0002g0093a0008c0010t0009g0004 | 3 | 126 | 0.0238 | 5 | c.94- others(22): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32879021 | A | ACAAAC | intron_variant | MODIFIER | NA18948.hp1 NA18955.hp1 NA18995.hp1 others(1): Show |
a0001a0004a0006others(1): Show | a0001c0001a0004c0011a0006c0006others(1): Show | a0001c0001t0016a0004c0011t0001a0006c0006t0001others(1): Show | a0001c0001t0016g0038a0004c0011t0001g0085a0006c0006t0001g0019others(1): Show | 4 | 126 | 0.0318 | 5 | c.94- others(22): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32883823 | C | CAAAAA | intron_variant | MODIFIER | HG02145.hp1 HG03579.hp1 HG04115.hp1 others(1): Show |
a0001a0002a0009others(1): Show | a0001c0001a0002c0012a0009c0013others(1): Show | a0001c0001t0001a0002c0012t0002a0009c0013t0022others(1): Show | a0001c0001t0001g0084a0002c0012t0002g0098a0009c0013t0022g0066others(1): Show | 4 | 126 | 0.0318 | 5 | c.94- others(22): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32885827 | G | GAGAAA | intron_variant | MODIFIER | HG02976.hp2 | a0005 | a0005c0057 | a0005c0057t0001 | a0005c0057t0001g0109 | 1 | 126 | 0.0079 | 5 | c.94- others(22): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32887745 | C | CAAAAA | intron_variant | MODIFIER | HG02257.hp2 HG02735.hp1 HG03486.hp1 |
a0003a0005a0006 | a0003c0008a0005c0053a0006c0006 | a0003c0008t0023a0005c0053t0004a0006c0006t0008 | a0003c0008t0023g0005a0005c0053t0004g0103a0006c0006t0008g0031 | 3 | 126 | 0.0238 | 5 | c.94- others(22): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32887770 | A | AAAAAC | intron_variant | MODIFIER | HG01099.hp1 HG02015.hp1 HG02451.hp1 others(2): Show |
a0001a0003a0005others(2): Show | a0001c0002a0003c0003a0005c0045others(2): Show | a0001c0002t0001a0003c0003t0001a0005c0045t0018others(2): Show | a0001c0002t0001g0105a0003c0003t0001g0050a0005c0045t0018g0118others(2): Show | 5 | 126 | 0.0397 | 5 | c.94- others(22): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32903144 | C | CAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG01243.hp1 HG02135.hp1 others(10): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0002c0009others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0076a0001c0001t0002g0024a0001c0001t0002g0032others(10): Show | 13 | 126 | 0.1032 | 5 | c.94- others(22): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32925150 | T | TTTTTG | intron_variant | MODIFIER | HG03130.hp1 HG03195.hp1 |
a0010a0022 | a0010c0051a0022c0025 | a0010c0051t0011a0022c0025t0006 | a0010c0051t0011g0121a0022c0025t0006g0108 | 2 | 126 | 0.0159 | 5 | c.94- others(22): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33026313 | C | CAAAAA | intron_variant | MODIFIER | HG02486.hp1 HG04115.hp1 NA18945.hp1 |
a0001a0003a0009 | a0001c0001a0003c0003a0009c0013 | a0001c0001t0001a0003c0003t0001a0009c0013t0022 | a0001c0001t0001g0076a0003c0003t0001g0050a0009c0013t0022g0066 | 3 | 126 | 0.0238 | 5 | c.32- others(20): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33033554 | C | CAAAAA | intron_variant | MODIFIER | HG02723.hp2 | a0032 | a0032c0036 | a0032c0036t0004 | a0032c0036t0004g0011 | 1 | 126 | 0.0079 | 5 | c.32- others(22): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33046256 | T | TTAAGA | intron_variant | MODIFIER | HG00280.hp1 HG00609.hp1 HG00621.hp1 others(103): Show |
a0001a0002a0003others(29): Show | a0001c0001a0001c0002a0001c0022others(51): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(72): Show | a0001c0001t0001g0018a0001c0001t0001g0026a0001c0001t0001g0037others(103): Show | 106 | 126 | 0.8413 | 5 | c.32- others(22): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33048694 | T | TAAAAA | intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0104 | 1 | 126 | 0.0079 | 5 | c.32- others(22): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33048694 | T | TTAAAA | intron_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0020 | a0002c0020t0028 | a0002c0020t0028g0010 | 1 | 126 | 0.0079 | 5 | c.32- others(22): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33106054 | C | CACACA | intron_variant | MODIFIER | HG00642.hp1 HG01109.hp1 HG01192.hp1 others(3): Show |
a0001a0004a0009others(1): Show | a0001c0001a0004c0004a0004c0055others(2): Show | a0001c0001t0016a0004c0004t0001a0004c0055t0001others(2): Show | a0001c0001t0016g0038a0004c0004t0001g0064a0004c0004t0001g0083others(3): Show | 6 | 126 | 0.0476 | 5 | c.32- others(22): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33129325 | C | CTTTTT | intron_variant | MODIFIER | HG02717.hp1 HG02723.hp2 |
a0008a0032 | a0008c0010a0032c0036 | a0008c0010t0009a0032c0036t0004 | a0008c0010t0009g0004a0032c0036t0004g0011 | 2 | 126 | 0.0159 | 5 | c.31+ others(22): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33136278 | C | CAAAAA | intron_variant | MODIFIER | HG02145.hp1 HG02451.hp2 HG02976.hp2 others(2): Show |
a0002a0005a0022others(1): Show | a0002c0020a0002c0024a0005c0057others(2): Show | a0002c0020t0030a0002c0024t0011a0005c0057t0001others(2): Show | a0002c0020t0030g0125a0002c0024t0011g0016a0005c0057t0001g0109others(2): Show | 5 | 126 | 0.0397 | 5 | c.31+ others(22): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
DMGDH_chr5_78992564_79074674 | 79033933 | A | AAAAAC | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(68): Show |
a0001a0003a0005 | a0001c0001a0001c0008a0001c0015others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0006a0001c0001t0001g0020a0001c0001t0001g0028others(60): Show | 71 | 372 | 0.1909 | 5 | c.119 others(22): Show |
DMGDH | ENSG00000132837.15 | transcript | ENST00000255189.8 | protein_coding | 7/15 | chr5 | TogoVar | ||||||
DMGDH_chr5_78992564_79074674 | 79046056 | G | GTGTTT | intron_variant | MODIFIER | HG00438.hp1 HG00733.hp1 HG01069.hp2 others(60): Show |
a0002a0003 | a0002c0002a0002c0004a0002c0009others(1): Show | a0002c0002t0001a0002c0004t0001a0002c0009t0001others(1): Show | a0002c0002t0001g0008a0002c0002t0001g0009a0002c0002t0001g0021others(54): Show | 63 | 372 | 0.1694 | 5 | c.746 others(22): Show |
DMGDH | ENSG00000132837.15 | transcript | ENST00000255189.8 | protein_coding | 5/15 | chr5 | TogoVar | ||||||
DMGDH_chr5_78992564_79074674 | 79050248 | C | CAAAAA | intron_variant | MODIFIER | HG00438.hp1 HG00642.hp1 HG01169.hp2 others(10): Show |
a0002a0003a0010 | a0002c0002a0003c0003a0010c0019 | a0002c0002t0001a0003c0003t0001a0010c0019t0001 | a0002c0002t0001g0082a0002c0002t0001g0249a0002c0002t0001g0251others(10): Show | 13 | 372 | 0.0350 | 5 | c.745 others(22): Show |
DMGDH | ENSG00000132837.15 | transcript | ENST00000255189.8 | protein_coding | 5/15 | chr5 | TogoVar | ||||||
DMKN_chr19_35492220_35518649 | 35517718 | C | CTTTTT | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(160): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0026a0001c0051others(27): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(33): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0010others(97): Show | 163 | 442 | 0.3688 | 5 | c.-42 others(16): Show |
DMKN | ENSG00000161249.21 | transcript | ENST00000339686.8 | protein_coding | 4070 | chr19 | TogoVar | ||||||
DMRT1_chr9_836697_974090 | 851045 | A | AAAAAG | intron_variant | MODIFIER | HG00642.hp1 HG00673.hp1 HG01069.hp2 others(3): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0001t0008a0001c0001t0012others(1): Show | a0001c0001t0001g0157a0001c0001t0001g0160a0001c0001t0008g0158others(3): Show | 6 | 306 | 0.0196 | 5 | c.538 others(22): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 2/4 | chr9 | TogoVar | ||||||
DMRT1_chr9_836697_974090 | 863147 | T | TAAAAA | intron_variant | MODIFIER | HG00621.hp1 HG02055.hp2 HG02109.hp1 others(4): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0092a0001c0001t0001g0150a0001c0001t0001g0207others(4): Show | 7 | 306 | 0.0229 | 5 | c.538 others(24): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DMRT1_chr9_836697_974090 | 863149 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(85): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0137a0001c0001t0001g0138a0001c0001t0001g0140others(85): Show | 88 | 306 | 0.2876 | 5 | c.538 others(24): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DMRT1_chr9_836697_974090 | 866163 | C | CAAAAA | intron_variant | MODIFIER | HG00621.hp1 HG01358.hp1 HG01516.hp2 others(7): Show |
a0001a0002a0005 | a0001c0001a0001c0011a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0092a0001c0001t0001g0244a0001c0001t0002g0162others(7): Show | 10 | 306 | 0.0327 | 5 | c.538 others(24): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DMRT1_chr9_836697_974090 | 902304 | T | TTTGGA | intron_variant | MODIFIER | HG00735.hp1 HG01928.hp2 HG02056.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0004a0002c0002t0003others(2): Show | a0001c0001t0002g0086a0001c0001t0002g0087a0001c0001t0004g0181others(7): Show | 10 | 306 | 0.0327 | 5 | c.822 others(22): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 3/4 | chr9 | TogoVar | ||||||
DMRT1_chr9_836697_974090 | 902436 | T | TTATTG | intron_variant | MODIFIER | HG00735.hp1 HG01928.hp2 HG02056.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0004a0002c0002t0003others(2): Show | a0001c0001t0002g0086a0001c0001t0002g0087a0001c0001t0004g0181others(7): Show | 10 | 306 | 0.0327 | 5 | c.822 others(22): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 3/4 | chr9 | TogoVar | ||||||
DMRT1_chr9_836697_974090 | 923477 | A | AGTGTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(240): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0006others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(34): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0088others(240): Show | 243 | 306 | 0.7941 | 5 | c.967 others(22): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DMRT1_chr9_836697_974090 | 941336 | C | CACACA | intron_variant | MODIFIER | HG02895.hp2 HG02896.hp2 HG02897.hp2 |
a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0288a0001c0003t0007g0289a0001c0003t0007g0290 | 3 | 306 | 0.0098 | 5 | c.967 others(24): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 4/4 | chr9 | TogoVar | ||||||
DMRT1_chr9_836697_974090 | 941338 | C | CACACA | intron_variant | MODIFIER | HG02055.hp2 HG02809.hp1 HG02818.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0009 | a0001c0001t0001g0150a0001c0001t0001g0229a0001c0001t0001g0266others(6): Show | 9 | 306 | 0.0294 | 5 | c.967 others(24): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 4/4 | chr9 | TogoVar | ||||||
DMRT1_chr9_836697_974090 | 941338 | C | CCCACA | intron_variant | MODIFIER | HG00140.hp1 HG00621.hp2 HG00639.hp2 others(35): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0138a0001c0001t0001g0239a0001c0001t0001g0296others(35): Show | 38 | 306 | 0.1242 | 5 | c.967 others(24): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DMRTB1_chr1_53454399_53472488 | 53468920 | T | TTTTTA | downstream_gene_variant | MODIFIER | HG00609.hp1 HG00642.hp1 HG00735.hp1 others(71): Show |
a0001a0005a0011 | a0001c0001a0005c0007a0011c0009 | a0001c0001t0001a0001c0001t0005a0005c0007t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0007others(12): Show | 74 | 394 | 0.1878 | 5 | c.*22 others(16): Show |
DMRTB1 | ENSG00000143006.7 | transcript | ENST00000371445.3 | protein_coding | 1433 | chr1 | TogoVar | ||||||
DMRTC1B_chrX_72771890_72853803 | 72841439 | A | AGGAAG | intron_variant | MODIFIER | HG00642.hp1 HG01074.hp2 HG01256.hp2 others(7): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0023a0001c0001t0002g0021a0001c0001t0003g0009others(7): Show | 10 | 26 | 0.3846 | 5 | c.-94 others(22): Show |
DMRTC1B | ENSG00000184911.15 | transcript | ENST00000334036.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar |