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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DHFR_chr5_80621226_80659983 | 80654887 | GCTGCAGC others(20): Show |
G | 5_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(61): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(2): Show | a0001c0001t0004g0004 a0001c0001t0004g0012 a0001c0001t0004g0025 others(43): Show |
64 | 376 | 0.1702 | -27 | c.-42 others(36): Show |
DHFR | ENSG00000228716.7 | transcript | ENST00000439211.7 | protein_coding | 1/6 | 399 | chr5 | TogoVar | ||||||
DHRS12_chr13_51762993_51809163 | 51774223 | GTACATGT others(20): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG01081.hp2 HG01106.hp1 others(26): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0010 | a0001c0001t0003a0002c0002t0001a0002c0002t0003others(1): Show | a0001c0001t0003g0250 a0002c0002t0001g0182 a0002c0002t0003g0013 others(21): Show |
29 | 416 | 0.0697 | -27 | c.364 others(42): Show |
DHRS12 | ENSG00000102796.12 | transcript | ENST00000444610.8 | protein_coding | 5/8 | chr13 | TogoVar | |||||||
DHRS12_chr13_51762993_51809163 | 51774835 | TGTATTCT others(20): Show |
T | intron_variant | MODIFIER | HG02486.hp2 HG02559.hp1 HG02922.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0021 a0002c0002t0003g0179 a0002c0002t0003g0236 |
4 | 412 | 0.0097 | -27 | c.364 others(42): Show |
DHRS12 | ENSG00000102796.12 | transcript | ENST00000444610.8 | protein_coding | 5/8 | chr13 | TogoVar | |||||||
DHRS12_chr13_51762993_51809163 | 51775019 | AGTATTCT others(20): Show |
A | intron_variant | MODIFIER | NA18950.hp2 NA18982.hp1 NA19062.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 a0001c0001t0001g0088 a0001c0001t0001g0111 |
4 | 391 | 0.0102 | -27 | c.364 others(43): Show |
DHRS12 | ENSG00000102796.12 | transcript | ENST00000444610.8 | protein_coding | 5/8 | chr13 | TogoVar | |||||||
DHRS12_chr13_51762993_51809163 | 51775294 | AGTATTCT others(20): Show |
A | intron_variant | MODIFIER | HG02015.hp2 HG02074.hp2 NA19009.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022 a0001c0001t0002g0272 a0001c0001t0002g0291 others(1): Show |
4 | 416 | 0.0096 | -27 | c.364 others(44): Show |
DHRS12 | ENSG00000102796.12 | transcript | ENST00000444610.8 | protein_coding | 5/8 | chr13 | TogoVar | |||||||
DHRS12_chr13_51762993_51809163 | 51775307 | AGTATTCT others(20): Show |
A | intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0289 | 1 | 406 | 0.0025 | -27 | c.364 others(44): Show |
DHRS12 | ENSG00000102796.12 | transcript | ENST00000444610.8 | protein_coding | 5/8 | chr13 | TogoVar | |||||||
DHRS12_chr13_51762993_51809163 | 51775660 | TGTATTCT others(20): Show |
T | intron_variant | MODIFIER | HG02572.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0069 | 1 | 360 | 0.0028 | -27 | c.363 others(44): Show |
DHRS12 | ENSG00000102796.12 | transcript | ENST00000444610.8 | protein_coding | 5/8 | chr13 | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2315796 | TGCTCTTC others(20): Show |
T | intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 48 | 0.0208 | -27 | c.287 others(46): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2397954 | ATAGATAC others(20): Show |
A | intron_variant | MODIFIER | HG02074.hp1 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0003 a0001c0001t0012g0023 |
2 | 48 | 0.0417 | -27 | c.286 others(46): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | |||||||
DHX36_chr3_154267546_154329487 | 154310803 | AAAAATAT others(20): Show |
A | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0230 | 1 | 361 | 0.0028 | -27 | c.642 others(42): Show |
DHX36 | ENSG00000174953.14 | transcript | ENST00000496811.6 | protein_coding | 4/24 | chr3 | TogoVar | |||||||
DIP2A_chr21_46453891_46575015 | 46525863 | CATTATTA others(20): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG03098.hp1 NA18522.hp2 |
a0001 | a0001c0006 | a0001c0006t0014 | a0001c0006t0014g0150 a0001c0006t0014g0171 a0001c0006t0014g0172 |
3 | 12 | 0.2500 | -27 | c.110 others(46): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DIP2B_chr12_50499985_50753657 | 50579645 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0005 | a0002c0005t0006 | a0002c0005t0006g0107 | 1 | 233 | 0.0043 | -27 | c.101 others(46): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | chr12 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 337022 | TGTGTGTG others(20): Show |
T | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 | 1 | 88 | 0.0114 | -27 | c.358 others(46): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 29/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 358720 | CGGGGGTG others(20): Show |
C | intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 87 | 0.0115 | -27 | c.279 others(44): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 22/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 528359 | ACCCAGAA others(20): Show |
A | intron_variant | MODIFIER | HG00597.hp2 HG00673.hp2 HG01081.hp2 others(33): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0026 others(33): Show |
36 | 88 | 0.4091 | -27 | c.86- others(44): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | |||||||
DISP1_chr1_222810039_223010995 | 222936712 | ATATATCA others(20): Show |
A | intron_variant | MODIFIER | HG02135.hp1 NA18963.hp1 NA19068.hp1 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0078 a0001c0005t0001g0079 a0001c0005t0001g0081 |
3 | 346 | 0.0087 | -27 | c.-17 others(44): Show |
DISP1 | ENSG00000154309.9 | transcript | ENST00000675850.1 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DISP1_chr1_222810039_223010995 | 222936835 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG00642.hp1 others(68): Show |
a0001a0002a0007others(6): Show | a0001c0005a0001c0006a0002c0003others(10): Show | a0001c0005t0001a0001c0006t0001a0002c0003t0001others(11): Show | a0001c0005t0001g0076 a0001c0006t0001g0217 a0002c0003t0001g0054 others(66): Show |
71 | 230 | 0.3087 | -27 | c.-17 others(44): Show |
DISP1 | ENSG00000154309.9 | transcript | ENST00000675850.1 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DLC1_chr8_13078361_13519851 | 13188821 | ATATATGT others(20): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02965.hp1 |
a0002a0006 | a0002c0006a0006c0007 | a0002c0006t0007a0006c0007t0017 | a0002c0006t0007g0201 a0006c0007t0017g0029 |
2 | 199 | 0.0101 | -27 | c.134 others(48): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 5/17 | chr8 | TogoVar | |||||||
DLC1_chr8_13078361_13519851 | 13479840 | AGAAGAAG others(20): Show |
A | intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 210 | 0.0048 | -27 | c.102 others(48): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 2/17 | chr8 | TogoVar | |||||||
DLG1_chr3_197037560_197303612 | 197127440 | AAAAAAAA others(20): Show |
A | intron_variant | MODIFIER | HG01192.hp1 HG01358.hp2 HG01516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 a0001c0001t0001g0050 a0001c0001t0001g0067 |
3 | 317 | 0.0095 | -27 | c.116 others(46): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 11/24 | chr3 | TogoVar | |||||||
DLG1_chr3_197037560_197303612 | 197302156 | ATATCTAT others(20): Show |
A | upstream_gene_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0245 | 1 | 319 | 0.0031 | -27 | c.-36 others(38): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 3545 | chr3 | TogoVar | |||||||
DLG2_chr11_83450173_85632344 | 84493110 | GTGTCCAT others(20): Show |
G | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0011 | 1 | 14 | 0.0714 | -27 | c.519 others(46): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 7/27 | chr11 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 759065 | ATTATCAA others(20): Show |
A | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0009 | a0001c0009t0012 | a0001c0009t0012g0006 | 1 | 40 | 0.0250 | -27 | c.18+ others(44): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 848415 | CTGTTCCA others(20): Show |
C | intron_variant | MODIFIER | HG01496.hp2 HG01891.hp2 HG02922.hp1 |
a0001a0003 | a0001c0003a0003c0005 | a0001c0003t0014a0003c0005t0002a0003c0005t0004 | a0001c0003t0014g0020 a0003c0005t0002g0030 a0003c0005t0004g0037 |
3 | 16 | 0.1875 | -27 | c.19- others(44): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1234988 | ATCGTGTC others(20): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG01071.hp1 others(23): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0001c0009others(6): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0006others(20): Show | a0001c0002t0001g0019 a0001c0002t0002g0022 a0001c0002t0006g0011 others(23): Show |
26 | 40 | 0.6500 | -27 | c.74- others(44): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1235227 | GCATGTCT others(20): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG02895.hp2 HG02922.hp1 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0002c0001others(3): Show | a0001c0002t0001a0001c0002t0022a0001c0003t0013others(6): Show | a0001c0002t0001g0015 a0001c0002t0022g0034 a0001c0003t0013g0007 others(6): Show |
9 | 40 | 0.2250 | -27 | c.74- others(44): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1235937 | CACATGGC others(20): Show |
C | intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0008 | 1 | 40 | 0.0250 | -27 | c.74- others(44): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP4_chr20_36301339_36533633 | 36310209 | AAAGAAAG others(20): Show |
A | intron_variant | MODIFIER | HG02040.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0015 | 1 | 142 | 0.0070 | -27 | c.-30 others(46): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DLGAP4_chr20_36301339_36533633 | 36320135 | CCTCTCCC others(20): Show |
C | intron_variant | MODIFIER | HG02809.hp1 HG02922.hp2 |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0011a0004c0007t0029 | a0001c0001t0011g0007 a0004c0007t0029g0057 |
2 | 142 | 0.0141 | -27 | c.-30 others(48): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DLGAP4_chr20_36301339_36533633 | 36380592 | AAAGAGAG others(20): Show |
A | intron_variant | MODIFIER | HG01192.hp2 | a0003 | a0003c0004 | a0003c0004t0006 | a0003c0004t0006g0024 | 1 | 138 | 0.0072 | -27 | c.-73 others(46): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DMAC2L_chr14_50307324_50332957 | 50327103 | AGATCATT others(20): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00423.hp2 HG01934.hp2 HG01993.hp1 others(48): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0008a0002c0002t0015others(3): Show | a0002c0002t0003g0003 a0002c0002t0003g0009 a0002c0002t0003g0018 others(11): Show |
51 | 398 | 0.1281 | -27 | c.*13 others(38): Show |
DMAC2L | ENSG00000125375.18 | transcript | ENST00000557421.7 | protein_coding | 6/6 | 1383 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
DMD_chrX_31114222_33216549 | 31196819 | CAAAAAAA others(20): Show |
C | intron_variant | MODIFIER | HG02683.hp1 | a0013 | a0013c0059 | a0013c0059t0004 | a0013c0059t0004g0065 | 1 | 3 | 0.3333 | -27 | c.980 others(46): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 67/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32280161 | TACAGTAT others(20): Show |
T | intron_variant | MODIFIER | HG01943.hp1 NA18994.hp1 |
a0001a0005 | a0001c0002a0005c0007 | a0001c0002t0001a0005c0007t0001 | a0001c0002t0001g0085 a0005c0007t0001g0073 |
2 | 126 | 0.0159 | -27 | c.629 others(46): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 43/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32480438 | TGTGTGTA others(20): Show |
T | intron_variant | MODIFIER | HG02647.hp1 HG02723.hp2 HG02976.hp2 others(2): Show |
a0002a0005a0024 | a0002c0005a0002c0020a0002c0025others(2): Show | a0002c0005t0001a0002c0020t0019a0002c0025t0008others(2): Show | a0002c0005t0001g0088 a0002c0020t0019g0006 a0002c0025t0008g0108 others(2): Show |
5 | 125 | 0.0400 | -27 | c.280 others(46): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 21/78 | chrX | TogoVar | |||||||
DMKN_chr19_35492220_35518649 | 35511492 | GCCACTGC others(20): Show |
G | disruptive_inframe_deletion | MODERATE | NA18747.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0023 | 1 | 438 | 0.0023 | -27 | c.810 others(34): Show |
p.Gly others(13): Show |
DMKN | ENSG00000161249.21 | transcript | ENST00000339686.8 | protein_coding | 5/16 | 1010/1924 | 810/1431 | 270/476 | chr19 | TogoVar | |||
DMPK_chr19_45764717_45787490 | 45770204 | CCAGCAGC others(20): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG01069.hp2 others(67): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0012others(2): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(4): Show | a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0059 others(19): Show |
70 | 75 | 0.9333 | -27 | c.*25 others(36): Show |
DMPK | ENSG00000104936.20 | transcript | ENST00000291270.9 | protein_coding | 15/15 | 257 | chr19 | TogoVar | ||||||
DMRT1_chr9_836697_974090 | 911470 | ATTTTTTT others(20): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00597.hp1 HG00738.hp2 others(43): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0111 a0001c0001t0001g0147 a0001c0001t0001g0162 others(43): Show |
46 | 61 | 0.7541 | -27 | c.823 others(44): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DMTN_chr8_22051814_22087525 | 22086788 | CCCGCGGG others(20): Show |
C | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02280.hp1 HG02970.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0019 a0002c0002t0006g0020 a0002c0002t0006g0051 |
5 | 322 | 0.0155 | -27 | c.*53 others(38): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 4264 | chr8 | TogoVar | |||||||
DNAAF4_chr15_55425308_55513234 | 55447833 | GGGGAGAG others(20): Show |
G | intron_variant | MODIFIER | NA18972.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0018 | 1 | 336 | 0.0030 | -27 | c.783 others(44): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 6/9 | chr15 | TogoVar | |||||||
DNAH10_chr12_123757301_123940714 | 123911888 | GGGGGGAC others(20): Show |
G | intron_variant | MODIFIER | HG01175.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0135 | 1 | 168 | 0.0060 | -27 | c.101 others(48): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78434390 | AAGCTGGG others(20): Show |
A | intron_variant | MODIFIER | NA18939.hp2 | a0129 | a0129c0164 | a0129c0164t0003 | a0129c0164t0003g0247 | 1 | 250 | 0.0040 | -27 | c.120 others(46): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 74/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78437354 | ATCTACCA others(20): Show |
A | intron_variant | MODIFIER | HG00639.hp1 | a0032 | a0032c0121 | a0032c0121t0001 | a0032c0121t0001g0038 | 1 | 250 | 0.0040 | -27 | c.120 others(46): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 74/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78478689 | TTATTACC others(20): Show |
T | intron_variant | MODIFIER | HG02572.hp1 HG02717.hp2 HG02895.hp2 others(4): Show |
a0004a0010a0080others(2): Show | a0004c0006a0010c0007a0080c0160others(2): Show | a0004c0006t0001a0010c0007t0002a0080c0160t0002others(2): Show | a0004c0006t0001g0148 a0004c0006t0001g0149 a0010c0007t0002g0048 others(4): Show |
7 | 250 | 0.0280 | -27 | c.799 others(44): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 51/80 | chr17 | TogoVar | |||||||
DNAH8_chr6_38710311_39035792 | 38715255 | ACTGCGGA others(20): Show |
A | upstream_gene_variant | MODIFIER | NA18942.hp1 NA19077.hp1 |
a0005 | a0005c0023 | a0005c0023t0001 | a0005c0023t0001g0214 a0005c0023t0001g0215 |
2 | 284 | 0.0070 | -27 | c.-19 others(36): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 55 | chr6 | TogoVar | |||||||
DNAJB6_chr7_157332004_157422439 | 157369753 | TTAACATT others(20): Show |
T | intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 369 | 0.0027 | -27 | c.346 others(44): Show |
DNAJB6 | ENSG00000105993.15 | transcript | ENST00000262177.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAJC11_chr1_6629170_6706816 | 6654277 | GGTCCGCA others(20): Show |
G | intron_variant | MODIFIER | HG02735.hp2 HG04204.hp2 |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0317 a0002c0003t0003g0345 |
2 | 364 | 0.0055 | -27 | c.379 others(42): Show |
DNAJC11 | ENSG00000007923.17 | transcript | ENST00000377577.10 | protein_coding | 4/15 | chr1 | TogoVar | |||||||
DNAJC13_chr3_132412502_132544032 | 132417181 | AGGCACAC others(20): Show |
A | upstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0018 | a0001c0018t0001 | a0001c0018t0001g0068 | 1 | 316 | 0.0032 | -27 | c.-59 others(36): Show |
DNAJC13 | ENSG00000138246.17 | transcript | ENST00000260818.11 | protein_coding | 320 | chr3 | TogoVar | |||||||
DNAJC13_chr3_132412502_132544032 | 132417187 | ACGCCGGA others(20): Show |
A | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG00621.hp1 others(141): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0019a0002c0002others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0118 others(135): Show |
144 | 316 | 0.4557 | -27 | c.-58 others(36): Show |
DNAJC13 | ENSG00000138246.17 | transcript | ENST00000260818.11 | protein_coding | 314 | chr3 | TogoVar | |||||||
DNAJC13_chr3_132412502_132544032 | 132543233 | AGCTATGC others(20): Show |
A | downstream_gene_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 316 | 0.0032 | -27 | c.*49 others(38): Show |
DNAJC13 | ENSG00000138246.17 | transcript | ENST00000260818.11 | protein_coding | 4202 | chr3 | TogoVar | |||||||
DNAJC22_chr12_49341888_49358690 | 49343755 | TTTTTTTT others(20): Show |
T | upstream_gene_variant | MODIFIER | HG01346.hp2 HG02257.hp2 HG02258.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007a0001c0001t0013others(1): Show | a0001c0001t0005g0010 a0001c0001t0007g0003 a0001c0001t0013g0013 others(1): Show |
10 | 360 | 0.0278 | -27 | c.-43 others(38): Show |
DNAJC22 | ENSG00000178401.16 | transcript | ENST00000549441.7 | protein_coding | 3132 | chr12 | TogoVar |