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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DMRTC1B_chrX_72771890_72853803 | 72840969 | C | CAAGGAAG others(1): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0003 | a0003c0005 | a0003c0005t0021 | a0003c0005t0021g0025 | 1 | 26 | 0.0385 | 8 | c.-94 others(25): Show |
DMRTC1B | ENSG00000184911.15 | transcript | ENST00000334036.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DMRTC1B_chrX_72771890_72853803 | 72841080 | T | TAAGAAAG others(1): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00642.hp1 HG01074.hp2 others(19): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0002g0021 others(19): Show |
22 | 26 | 0.8462 | 8 | c.-94 others(25): Show |
DMRTC1B | ENSG00000184911.15 | transcript | ENST00000334036.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DMRTC1B_chrX_72771890_72853803 | 72845590 | C | CCCACCCA others(1): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0004 | a0004c0004 | a0004c0004t0006 | a0004c0004t0006g0007 | 1 | 26 | 0.0385 | 8 | c.123 others(21): Show |
DMRTC1B | ENSG00000184911.15 | transcript | ENST00000334036.10 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DMRTC1_chrX_72867025_72948837 | 72900298 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00673.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(23): Show |
26 | 54 | 0.4815 | 8 | c.-94 others(27): Show |
DMRTC1 | ENSG00000269502.6 | transcript | ENST00000615063.2 | protein_coding | 1/6 | chrX | TogoVar | |||||||
DMRTC1_chrX_72867025_72948837 | 72900298 | C | CAAAAAAC others(1): Show |
intron_variant | MODIFIER | HG01516.hp1 HG01516.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0041 a0001c0001t0003g0042 |
2 | 54 | 0.0370 | 8 | c.-94 others(27): Show |
DMRTC1 | ENSG00000269502.6 | transcript | ENST00000615063.2 | protein_coding | 1/6 | chrX | TogoVar | |||||||
DMRTC1_chrX_72867025_72948837 | 72943873 | G | GGAGGAGG others(1): Show |
upstream_gene_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0009 | 1 | 54 | 0.0185 | 8 | c.-39 others(17): Show |
DMRTC1 | ENSG00000269502.6 | transcript | ENST00000615063.2 | protein_coding | 37 | chrX | TogoVar | |||||||
DMTN_chr8_22051814_22087525 | 22054103 | T | TACACACA others(1): Show |
upstream_gene_variant | MODIFIER | HG00733.hp2 HG01169.hp2 HG01516.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0010 | a0001c0001t0001g0176 a0001c0001t0001g0270 a0001c0001t0008g0179 others(5): Show |
8 | 324 | 0.0247 | 8 | c.-32 others(19): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 2710 | chr8 | TogoVar | |||||||
DMTN_chr8_22051814_22087525 | 22078798 | G | GTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(178): Show |
a0001a0003 | a0001c0001a0001c0006a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0014 others(161): Show |
181 | 324 | 0.5586 | 8 | c.836 others(25): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DMTN_chr8_22051814_22087525 | 22079265 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01099.hp1 HG02622.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0003g0083 |
3 | 324 | 0.0093 | 8 | c.836 others(23): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119077754 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00642.hp1 NA19240.hp2 |
a0001a0010 | a0001c0001a0010c0013 | a0001c0001t0002a0010c0013t0009 | a0001c0001t0002g0053 a0010c0013t0009g0229 |
2 | 238 | 0.0084 | 8 | c.87+ others(23): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 1/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119077754 | A | AGTGTTTG others(1): Show |
intron_variant | MODIFIER | HG02723.hp2 HG03669.hp2 HG03688.hp1 others(2): Show |
a0001a0018 | a0001c0006a0018c0024 | a0001c0006t0002a0018c0024t0002 | a0001c0006t0002g0017 a0001c0006t0002g0018 a0001c0006t0002g0019 others(2): Show |
5 | 238 | 0.0210 | 8 | c.87+ others(23): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 1/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119082020 | T | TATATACA others(1): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01361.hp1 HG01517.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0198 a0001c0002t0001g0157 a0001c0002t0001g0174 others(1): Show |
4 | 238 | 0.0168 | 8 | c.87+ others(25): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 1/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119085333 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02976.hp2 HG03209.hp1 others(1): Show |
a0001a0022 | a0001c0002a0022c0039 | a0001c0002t0005a0001c0002t0021a0022c0039t0001 | a0001c0002t0005g0037 a0001c0002t0005g0216 a0001c0002t0021g0036 others(1): Show |
4 | 238 | 0.0168 | 8 | c.88- others(25): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 1/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119173668 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02896.hp2 HG02897.hp1 others(1): Show |
a0001a0009 | a0001c0004a0009c0010 | a0001c0004t0003a0009c0010t0007 | a0001c0004t0003g0010 a0009c0010t0007g0002 a0009c0010t0007g0003 others(1): Show |
4 | 238 | 0.0168 | 8 | c.668 others(27): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 25/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119173776 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02015.hp1 HG03017.hp1 others(1): Show |
a0001a0008 | a0001c0002a0001c0008a0008c0015 | a0001c0002t0001a0001c0008t0001a0008c0015t0008 | a0001c0002t0001g0095 a0001c0008t0001g0077 a0001c0008t0001g0080 others(1): Show |
4 | 238 | 0.0168 | 8 | c.668 others(27): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 25/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL2_chr15_51442791_51627771 | 51502306 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG01243.hp1 others(14): Show |
a0002a0009a0012 | a0002c0002a0002c0006a0002c0008others(4): Show | a0002c0002t0001a0002c0006t0001a0002c0008t0001others(4): Show | a0002c0002t0001g0226 a0002c0002t0001g0229 a0002c0002t0001g0264 others(14): Show |
17 | 346 | 0.0491 | 8 | c.299 others(25): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 17/43 | chr15 | TogoVar | |||||||
DNA2_chr10_68409064_68476973 | 68427650 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02572.hp1 HG02922.hp2 others(2): Show |
a0001a0009 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0003a0001c0003t0008others(1): Show | a0001c0001t0001g0193 a0001c0002t0003g0016 a0001c0002t0003g0017 others(2): Show |
5 | 326 | 0.0153 | 8 | c.220 others(27): Show |
DNA2 | ENSG00000138346.16 | transcript | ENST00000358410.8 | protein_coding | 14/20 | chr10 | TogoVar | |||||||
DNA2_chr10_68409064_68476973 | 68460030 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00735.hp1 others(53): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(4): Show | a0001c0001t0001g0090 a0001c0002t0001g0092 a0001c0002t0001g0093 others(53): Show |
56 | 326 | 0.1718 | 8 | c.588 others(23): Show |
DNA2 | ENSG00000138346.16 | transcript | ENST00000358410.8 | protein_coding | 4/20 | chr10 | TogoVar | |||||||
DNAAF10_chr2_68124805_68162527 | 68130107 | G | GATATATA others(1): Show |
3_prime_UTR_variant | MODIFIER | HG00642.hp1 HG00733.hp1 HG01257.hp2 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0009a0002c0002t0031 | a0001c0001t0004g0008 a0001c0001t0004g0031 a0001c0001t0004g0059 others(11): Show |
21 | 432 | 0.0486 | 8 | c.*11 others(19): Show |
DNAAF10 | ENSG00000243667.7 | transcript | ENST00000295121.11 | protein_coding | 8/8 | 1130 | chr2 | TogoVar | ||||||
DNAAF11_chr8_132565416_132680545 | 132593332 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG00733.hp1 HG00738.hp1 HG00738.hp2 others(26): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(2): Show | a0001c0001t0001g0125 a0001c0001t0001g0140 a0001c0001t0001g0163 others(26): Show |
29 | 276 | 0.1051 | 8 | c.114 others(27): Show |
DNAAF11 | ENSG00000129295.10 | transcript | ENST00000620350.5 | protein_coding | 10/11 | chr8 | TogoVar | |||||||
DNAAF11_chr8_132565416_132680545 | 132602744 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02257.hp1 HG02486.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0047 a0002c0002t0001g0050 a0002c0002t0001g0051 |
3 | 276 | 0.0109 | 8 | c.114 others(27): Show |
DNAAF11 | ENSG00000129295.10 | transcript | ENST00000620350.5 | protein_coding | 10/11 | chr8 | TogoVar | |||||||
DNAAF1_chr16_84140308_84182918 | 84168827 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00609.hp1 others(126): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0004a0001c0008others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0334 a0001c0001t0002g0013 a0001c0001t0002g0014 others(119): Show |
129 | 456 | 0.2829 | 8 | c.103 others(27): Show |
DNAAF1 | ENSG00000154099.18 | transcript | ENST00000378553.10 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DNAAF2_chr14_49620174_49640244 | 49630234 | C | CAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(76): Show |
a0002a0003a0007others(2): Show | a0002c0002a0002c0012a0003c0003others(3): Show | a0002c0002t0001a0002c0012t0001a0003c0003t0006others(3): Show | a0002c0002t0001g0001 a0002c0002t0001g0006 a0002c0002t0001g0019 others(19): Show |
79 | 352 | 0.2244 | 8 | c.186 others(27): Show |
DNAAF2 | ENSG00000165506.15 | transcript | ENST00000298292.13 | protein_coding | 1/2 | chr14 | TogoVar | |||||||
DNAAF2_chr14_49620174_49640244 | 49630669 | C | CCACACAC others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01069.hp1 HG01109.hp2 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0006 a0002c0002t0001g0086 a0002c0002t0001g0087 |
10 | 352 | 0.0284 | 8 | c.186 others(27): Show |
DNAAF2 | ENSG00000165506.15 | transcript | ENST00000298292.13 | protein_coding | 1/2 | chr14 | TogoVar | |||||||
DNAAF3_chr19_55153665_55171613 | 55168386 | C | CATATATA others(1): Show |
upstream_gene_variant | MODIFIER | HG02602.hp2 NA18747.hp1 NA20905.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0004 a0001c0004t0001g0022 a0001c0004t0001g0034 |
3 | 398 | 0.0075 | 8 | c.-18 others(19): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 1774 | chr19 | TogoVar | |||||||
DNAAF3_chr19_55153665_55171613 | 55168404 | T | TAGAGAGA others(1): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 HG01074.hp2 NA18522.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0004t0001g0035 |
3 | 398 | 0.0075 | 8 | c.-18 others(19): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 1792 | chr19 | TogoVar | |||||||
DNAAF3_chr19_55153665_55171613 | 55168406 | T | TAGAGAGA others(1): Show |
upstream_gene_variant | MODIFIER | HG01496.hp1 HG02698.hp2 NA19012.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004a0001c0007 | a0001c0001t0001a0001c0004t0001a0001c0007t0001 | a0001c0001t0001g0001 a0001c0001t0001g0028 a0001c0004t0001g0004 others(2): Show |
5 | 398 | 0.0126 | 8 | c.-18 others(19): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 1794 | chr19 | TogoVar | |||||||
DNAAF3_chr19_55153665_55171613 | 55168406 | T | TATAGAGA others(1): Show |
upstream_gene_variant | MODIFIER | HG01256.hp1 HG01952.hp2 NA18990.hp1 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0003 a0001c0001t0001g0047 a0001c0004t0001g0004 others(1): Show |
5 | 398 | 0.0126 | 8 | c.-18 others(19): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 1794 | chr19 | TogoVar | |||||||
DNAAF3_chr19_55153665_55171613 | 55168406 | T | TATATAGA others(1): Show |
upstream_gene_variant | MODIFIER | NA18612.hp2 NA18947.hp2 NA18980.hp2 |
a0001 | a0001c0001a0001c0004a0001c0010 | a0001c0001t0001a0001c0004t0001a0001c0010t0001 | a0001c0001t0001g0112 a0001c0004t0001g0070 a0001c0010t0001g0068 |
3 | 398 | 0.0075 | 8 | c.-18 others(19): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 1794 | chr19 | TogoVar | |||||||
DNAAF3_chr19_55153665_55171613 | 55168406 | T | TATATATA others(1): Show |
upstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02004.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0014 a0001c0001t0001g0124 a0001c0001t0001g0152 others(2): Show |
5 | 398 | 0.0126 | 8 | c.-18 others(19): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 1794 | chr19 | TogoVar | |||||||
DNAAF3_chr19_55153665_55171613 | 55169933 | G | GTATTTAT others(1): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG01070.hp2 others(42): Show |
a0001a0002a0006 | a0001c0001a0001c0004a0002c0003others(1): Show | a0001c0001t0001a0001c0004t0001a0002c0003t0001others(2): Show | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0025 others(27): Show |
45 | 398 | 0.1131 | 8 | c.-34 others(19): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 3321 | chr19 | TogoVar | |||||||
DNAAF3_chr19_55153665_55171613 | 55170850 | T | TTCTCTCT others(1): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 HG03130.hp2 HG03453.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 a0001c0001t0001g0090 a0001c0001t0001g0098 |
5 | 398 | 0.0126 | 8 | c.-43 others(19): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 4238 | chr19 | TogoVar | |||||||
DNAAF4_chr15_55425308_55513234 | 55433920 | A | ATAATATA others(1): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02965.hp2 HG03579.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0249 a0002c0002t0002g0250 a0002c0002t0002g0251 others(2): Show |
5 | 338 | 0.0148 | 8 | c.104 others(25): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 8/9 | chr15 | TogoVar | |||||||
DNAAF4_chr15_55425308_55513234 | 55448519 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG03017.hp2 NA18972.hp1 NA18975.hp2 others(7): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0013 a0003c0003t0001g0017 a0003c0003t0001g0019 others(7): Show |
10 | 338 | 0.0296 | 8 | c.783 others(25): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 6/9 | chr15 | TogoVar | |||||||
DNAAF4_chr15_55425308_55513234 | 55455387 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02056.hp1 HG02056.hp2 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0002a0003c0003t0001others(1): Show | a0001c0001t0001g0103 a0001c0001t0001g0149 a0001c0001t0001g0164 others(8): Show |
11 | 338 | 0.0325 | 8 | c.638 others(25): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 5/9 | chr15 | TogoVar | |||||||
DNAAF4_chr15_55425308_55513234 | 55463170 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01167.hp2 HG01243.hp1 others(10): Show |
a0003a0005 | a0003c0003a0005c0004 | a0003c0003t0001a0003c0003t0002a0005c0004t0003 | a0003c0003t0001g0010 a0003c0003t0001g0021 a0003c0003t0001g0131 others(10): Show |
13 | 338 | 0.0385 | 8 | c.637 others(25): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 5/9 | chr15 | TogoVar | |||||||
DNAAF4_chr15_55425308_55513234 | 55463172 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01943.hp1 HG03239.hp2 others(2): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0006 | a0001c0001t0002a0002c0002t0001a0006c0006t0001 | a0001c0001t0002g0264 a0002c0002t0001g0087 a0002c0002t0001g0220 others(2): Show |
5 | 338 | 0.0148 | 8 | c.637 others(25): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 5/9 | chr15 | TogoVar | |||||||
DNAAF4_chr15_55425308_55513234 | 55463172 | T | TCTCACAC others(1): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02970.hp1 HG03195.hp1 |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0209 a0002c0002t0004g0210 a0002c0002t0004g0291 |
3 | 338 | 0.0089 | 8 | c.637 others(25): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 5/9 | chr15 | TogoVar | |||||||
DNAAF4_chr15_55425308_55513234 | 55465391 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG03209.hp1 others(1): Show |
a0004a0005 | a0004c0005a0005c0004 | a0004c0005t0007a0005c0004t0003 | a0004c0005t0007g0285 a0004c0005t0007g0290 a0005c0004t0003g0258 others(1): Show |
4 | 338 | 0.0118 | 8 | c.637 others(25): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 5/9 | chr15 | TogoVar | |||||||
DNAAF4_chr15_55425308_55513234 | 55473198 | A | AAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00609.hp2 HG02132.hp1 others(11): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0002 | a0001c0001t0001g0116 a0001c0001t0001g0125 a0001c0001t0001g0167 others(11): Show |
14 | 338 | 0.0414 | 8 | c.406 others(25): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 4/9 | chr15 | TogoVar | |||||||
DNAAF4_chr15_55425308_55513234 | 55473369 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00738.hp2 HG01069.hp1 others(5): Show |
a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0274 a0004c0005t0002g0276 a0004c0005t0002g0277 others(5): Show |
8 | 338 | 0.0237 | 8 | c.406 others(25): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 4/9 | chr15 | TogoVar | |||||||
DNAAF6_chrX_107201611_107249247 | 107212652 | C | CATTTTAG others(1): Show |
intron_variant | MODIFIER | NA19054.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0097 | 1 | 296 | 0.0034 | 8 | c.-3- others(21): Show |
DNAAF6 | ENSG00000080572.14 | transcript | ENST00000372453.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DNAAF6_chrX_107201611_107249247 | 107220902 | C | CCTTTCTT others(1): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 296 | 0.0034 | 8 | c.333 others(25): Show |
DNAAF6 | ENSG00000080572.14 | transcript | ENST00000372453.8 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3310333 | A | AAAAGAAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00544.hp1 HG00558.hp1 others(51): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(13): Show | a0001c0001t0001g0208 a0001c0001t0001g0226 a0001c0001t0001g0227 others(51): Show |
54 | 362 | 0.1492 | 8 | c.167 others(27): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 20/36 | chr20 | TogoVar | |||||||
DNAAF9_chr20_3244306_3412669 | 3332900 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01243.hp2 HG01255.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 others(11): Show |
14 | 362 | 0.0387 | 8 | c.982 others(23): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 10/36 | chr20 | TogoVar | |||||||
DNAAF9_chr20_3244306_3412669 | 3336252 | G | GTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02630.hp1 HG02895.hp2 others(5): Show |
a0001 | a0001c0003 | a0001c0003t0004a0001c0003t0012 | a0001c0003t0004g0047 a0001c0003t0004g0049 a0001c0003t0004g0051 others(5): Show |
8 | 362 | 0.0221 | 8 | c.982 others(25): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 10/36 | chr20 | TogoVar | |||||||
DNAAF9_chr20_3244306_3412669 | 3349192 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02630.hp1 HG02647.hp2 others(10): Show |
a0001a0010 | a0001c0003a0010c0019 | a0001c0003t0004a0001c0003t0005a0001c0003t0009others(2): Show | a0001c0003t0004g0011 a0001c0003t0004g0047 a0001c0003t0004g0049 others(10): Show |
13 | 362 | 0.0359 | 8 | c.691 others(23): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 7/36 | chr20 | TogoVar | |||||||
DNAAF9_chr20_3244306_3412669 | 3352846 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01358.hp1 HG01433.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0312 a0001c0001t0007g0313 a0001c0001t0007g0315 |
3 | 362 | 0.0083 | 8 | c.691 others(25): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 7/36 | chr20 | TogoVar | |||||||
DNAAF9_chr20_3244306_3412669 | 3397323 | G | GTTTTTTG others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(73): Show |
a0001a0005a0007others(2): Show | a0001c0003a0001c0006a0001c0008others(4): Show | a0001c0003t0004a0001c0003t0005a0001c0003t0009others(10): Show | a0001c0003t0004g0007 a0001c0003t0004g0011 a0001c0003t0004g0013 others(73): Show |
76 | 362 | 0.2099 | 8 | c.83+ others(25): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 1/36 | chr20 | TogoVar | |||||||
DNAH10_chr12_123757301_123940714 | 123765564 | T | TTATCTAT others(1): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG01099.hp2 others(32): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0002a0001c0003others(21): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0002others(21): Show | a0001c0001t0001g0052 a0001c0001t0001g0064 a0001c0002t0002g0072 others(32): Show |
35 | 170 | 0.2059 | 8 | c.215 others(25): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 1/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |