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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DMP1_chr4_87645280_87669357 | 87667338 | CATATATA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00733.hp1 HG01255.hp2 others(30): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0004a0001c0009others(4): Show | a0001c0002t0004a0001c0002t0005a0001c0002t0010others(7): Show | a0001c0002t0004g0003a0001c0002t0004g0009a0001c0002t0004g0202others(19): Show | 33 | 430 | 0.0767 | -8 | c.*40 others(19): Show |
DMP1 | ENSG00000152592.15 | transcript | ENST00000339673.11 | protein_coding | 2982 | chr4 | TogoVar | ||||||
DMRT1_chr9_836697_974090 | 840722 | GGGGTGTG others(1): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG00673.hp2 others(46): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0088a0001c0001t0001g0089a0001c0001t0001g0189others(46): Show | 49 | 306 | 0.1601 | -8 | c.-11 others(19): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 974 | chr9 | TogoVar | ||||||
DMRT1_chr9_836697_974090 | 911470 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG00621.hp2 HG01167.hp1 HG01169.hp1 others(55): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0137a0001c0001t0001g0138a0001c0001t0001g0200others(55): Show | 58 | 306 | 0.1895 | -8 | c.823 others(25): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DMRT1_chr9_836697_974090 | 926686 | GTAGAGAG others(1): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG01243.hp2 HG02015.hp1 others(9): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0142a0001c0001t0001g0300a0001c0001t0002g0252others(9): Show | 12 | 306 | 0.0392 | -8 | c.967 others(25): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 4/4 | chr9 | TogoVar | ||||||
DMRT3_chr9_971655_996732 | 987412 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02257.hp2 HG02258.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(2): Show | a0001c0001t0004g0059a0001c0001t0006g0020a0001c0001t0007g0056others(4): Show | 10 | 458 | 0.0218 | -8 | c.455 others(25): Show |
DMRT3 | ENSG00000064218.5 | transcript | ENST00000190165.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DMRTC1B_chrX_72771890_72853803 | 72840969 | CAAGGAAG others(1): Show |
C | intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0005 | 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 | |||||
DMRTC1_chrX_72867025_72948837 | 72902909 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0020 | 1 | 54 | 0.0185 | -8 | c.-94 others(27): Show |
DMRTC1 | ENSG00000269502.6 | transcript | ENST00000615063.2 | protein_coding | 1/6 | chrX | TogoVar | ||||||
DMRTC2_chr19_41840042_41857333 | 41851815 | CTTTTTTG others(1): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02922.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014 | 5 | 402 | 0.0124 | -8 | c.*12 others(17): Show |
DMRTC2 | ENSG00000142025.16 | transcript | ENST00000269945.8 | protein_coding | 9/9 | 122 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
DMTF1_chr7_87147453_87201325 | 87159388 | TTCATAAA others(1): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG00597.hp1 HG00609.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0021a0001c0001t0001g0043others(8): Show | 19 | 362 | 0.0525 | -8 | c.-13 others(27): Show |
DMTF1 | ENSG00000135164.19 | transcript | ENST00000331242.12 | protein_coding | 1/17 | chr7 | TogoVar | ||||||
DMTN_chr8_22051814_22087525 | 22065827 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG02886.hp1 HG02896.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071a0001c0001t0001g0124a0001c0001t0001g0125others(3): Show | 6 | 324 | 0.0185 | -8 | c.-17 others(25): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DMTN_chr8_22051814_22087525 | 22079273 | AATAAATA others(1): Show |
A | intron_variant | MODIFIER | HG02630.hp1 HG02717.hp2 HG02970.hp1 others(2): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0007a0001c0001t0013a0001c0007t0007 | a0001c0001t0007g0068a0001c0001t0007g0069a0001c0001t0007g0278others(2): Show | 5 | 324 | 0.0154 | -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 | 119082016 | TATATACA others(1): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG02486.hp1 HG02572.hp2 others(14): Show |
a0001 | a0001c0001a0001c0019a0001c0030others(2): Show | a0001c0001t0002a0001c0019t0011a0001c0030t0001others(2): Show | a0001c0001t0002g0043a0001c0001t0002g0044a0001c0001t0002g0045others(14): Show | 17 | 238 | 0.0714 | -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 | 119082020 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00673.hp2 HG01884.hp1 HG02015.hp1 others(2): Show |
a0001a0008 | a0001c0002a0001c0008a0008c0015 | a0001c0002t0001a0001c0008t0001a0008c0015t0008 | a0001c0002t0001g0103a0001c0008t0001g0077a0001c0008t0001g0080others(2): Show | 5 | 238 | 0.0210 | -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 | 119173692 | GTGTGTGT others(1): Show |
G | intron_variant | MODIFIER | NA18962.hp2 NA18978.hp1 NA19060.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0006 | a0001c0002t0001g0082a0001c0002t0001g0121a0001c0002t0006g0120 | 3 | 238 | 0.0126 | -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 | 119202877 | ATATATTT others(1): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG02683.hp1 |
a0012 | a0012c0016 | a0012c0016t0013 | a0012c0016t0013g0220a0012c0016t0013g0221 | 2 | 238 | 0.0084 | -8 | c.774 others(25): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 32/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DMXL2_chr15_51442791_51627771 | 51547115 | TGATGCCA others(1): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG00741.hp1 others(21): Show |
a0001a0002a0008 | a0001c0001a0002c0017a0008c0037 | a0001c0001t0001a0001c0001t0002a0002c0017t0001others(1): Show | a0001c0001t0001g0048a0001c0001t0001g0060a0001c0001t0001g0061others(21): Show | 24 | 346 | 0.0694 | -8 | c.746 others(23): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 7/43 | chr15 | TogoVar | ||||||
DMXL2_chr15_51442791_51627771 | 51548152 | TGTATTTT others(1): Show |
T | intron_variant | MODIFIER | HG01175.hp1 HG01261.hp1 HG03491.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0242a0002c0002t0001g0243a0002c0002t0001g0262others(1): Show | 4 | 346 | 0.0116 | -8 | c.568 others(23): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 6/43 | chr15 | TogoVar | ||||||
DMXL2_chr15_51442791_51627771 | 51566232 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00597.hp1 others(76): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0016a0002c0011others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0016t0001others(5): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0039others(74): Show | 79 | 346 | 0.2283 | -8 | c.286 others(25): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 3/43 | chr15 | TogoVar | ||||||
DNAAF10_chr2_68124805_68162527 | 68138175 | AAAACAAA others(1): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG01167.hp2 HG01169.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0014 | a0001c0001t0005g0026a0001c0001t0005g0237a0001c0001t0005g0238others(8): Show | 13 | 432 | 0.0301 | -8 | c.633 others(23): Show |
DNAAF10 | ENSG00000243667.7 | transcript | ENST00000295121.11 | protein_coding | 5/7 | chr2 | TogoVar | ||||||
DNAAF11_chr8_132565416_132680545 | 132593332 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG02818.hp2 HG03486.hp1 HG03540.hp2 |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0004t0001 | a0002c0002t0001g0032a0002c0002t0001g0033a0002c0004t0001g0035 | 3 | 276 | 0.0109 | -8 | c.114 others(27): Show |
DNAAF11 | ENSG00000129295.10 | transcript | ENST00000620350.5 | protein_coding | 10/11 | chr8 | TogoVar | ||||||
DNAAF11_chr8_132565416_132680545 | 132595346 | GGGAAAAA others(1): Show |
G | intron_variant | MODIFIER | HG02818.hp2 HG03486.hp1 HG03540.hp2 |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0004t0001 | a0002c0002t0001g0032a0002c0002t0001g0033a0002c0004t0001g0035 | 3 | 276 | 0.0109 | -8 | c.114 others(29): Show |
DNAAF11 | ENSG00000129295.10 | transcript | ENST00000620350.5 | protein_coding | 10/11 | chr8 | TogoVar | ||||||
DNAAF11_chr8_132565416_132680545 | 132602744 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG02630.hp2 HG02818.hp2 HG03486.hp1 others(1): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0004t0001a0002c0004t0010 | a0002c0002t0001g0032a0002c0002t0001g0033a0002c0004t0001g0035others(1): Show | 4 | 276 | 0.0145 | -8 | c.114 others(27): Show |
DNAAF11 | ENSG00000129295.10 | transcript | ENST00000620350.5 | protein_coding | 10/11 | chr8 | TogoVar | ||||||
DNAAF1_chr16_84140308_84182918 | 84146095 | TCAAACAA others(1): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG02809.hp2 HG02818.hp2 others(2): Show |
a0001a0003a0025 | a0001c0001a0003c0025a0025c0031 | a0001c0001t0002a0003c0025t0001a0025c0031t0001 | a0001c0001t0002g0427a0001c0001t0002g0429a0003c0025t0001g0428others(2): Show | 5 | 456 | 0.0110 | -8 | c.124 others(23): Show |
DNAAF1 | ENSG00000154099.18 | transcript | ENST00000378553.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DNAAF1_chr16_84140308_84182918 | 84166370 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00597.hp1 HG01106.hp2 others(53): Show |
a0003a0005a0008others(6): Show | a0003c0005a0003c0007a0003c0025others(9): Show | a0003c0005t0001a0003c0005t0002a0003c0007t0001others(13): Show | a0003c0005t0001g0051a0003c0005t0001g0052a0003c0005t0001g0053others(51): Show | 56 | 456 | 0.1228 | -8 | c.103 others(25): Show |
DNAAF1 | ENSG00000154099.18 | transcript | ENST00000378553.10 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DNAAF2_chr14_49620174_49640244 | 49638371 | AAAAAAAA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01074.hp2 others(12): Show |
a0002a0003a0007 | a0002c0002a0003c0014a0007c0010 | a0002c0002t0001a0003c0014t0002a0007c0010t0001 | a0002c0002t0001g0001a0002c0002t0001g0006a0002c0002t0001g0027others(7): Show | 15 | 352 | 0.0426 | -8 | c.-32 others(19): Show |
DNAAF2 | ENSG00000165506.15 | transcript | ENST00000298292.13 | protein_coding | 3128 | chr14 | TogoVar | ||||||
DNAAF3_chr19_55153665_55171613 | 55162997 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG01261.hp1 HG02074.hp1 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0004a0002c0003a0003c0002others(1): Show | a0001c0004t0001a0002c0003t0001a0003c0002t0001others(1): Show | a0001c0004t0001g0156a0002c0003t0001g0024a0002c0003t0001g0037others(6): Show | 12 | 398 | 0.0302 | -8 | c.323 others(23): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 4/11 | chr19 | TogoVar | ||||||
DNAAF3_chr19_55153665_55171613 | 55168400 | TATATATA others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00544.hp1 HG02132.hp2 HG02165.hp2 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0024a0002c0003t0001g0037a0002c0003t0001g0092 | 4 | 398 | 0.0101 | -8 | c.-18 others(19): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 1788 | chr19 | TogoVar | ||||||
DNAAF3_chr19_55153665_55171613 | 55168404 | TATAGAGA others(1): Show |
T | upstream_gene_variant | MODIFIER | HG02735.hp1 HG02738.hp1 HG02897.hp1 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0002c0006others(2): Show | a0001c0001t0001a0002c0003t0001a0002c0006t0001others(2): Show | a0001c0001t0001g0028a0001c0001t0001g0113a0002c0003t0001g0024others(4): Show | 7 | 398 | 0.0176 | -8 | c.-18 others(19): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 1792 | chr19 | TogoVar | ||||||
DNAAF3_chr19_55153665_55171613 | 55171305 | CCACACAC others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00741.hp2 HG01243.hp1 HG02055.hp1 others(9): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0002 | a0001c0001t0001a0002c0003t0001a0003c0002t0001 | a0001c0001t0001g0019a0001c0001t0001g0101a0002c0003t0001g0024others(6): Show | 12 | 398 | 0.0302 | -8 | c.-47 others(19): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 4693 | chr19 | TogoVar | ||||||
DNAAF4_chr15_55425308_55513234 | 55448517 | AGGGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG01099.hp1 HG01167.hp1 HG01433.hp1 others(6): Show |
a0001a0004a0005 | a0001c0001a0004c0005a0005c0004 | a0001c0001t0001a0004c0005t0001a0004c0005t0003others(1): Show | a0001c0001t0001g0123a0001c0001t0001g0133a0001c0001t0001g0229others(6): Show | 9 | 338 | 0.0266 | -8 | c.783 others(25): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 6/9 | chr15 | TogoVar | ||||||
DNAAF4_chr15_55425308_55513234 | 55448519 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(23): Show |
a0002a0009 | a0002c0002a0009c0009 | a0002c0002t0001a0002c0002t0006a0009c0009t0001 | a0002c0002t0001g0065a0002c0002t0001g0072a0002c0002t0001g0073others(23): Show | 26 | 338 | 0.0769 | -8 | c.783 others(25): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 6/9 | chr15 | TogoVar | ||||||
DNAAF4_chr15_55425308_55513234 | 55483833 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp2 HG01069.hp1 others(10): Show |
a0001a0004a0005 | a0001c0001a0004c0005a0005c0004 | a0001c0001t0001a0004c0005t0002a0005c0004t0003 | a0001c0001t0001g0273a0004c0005t0002g0276a0004c0005t0002g0278others(10): Show | 13 | 338 | 0.0385 | -8 | c.405 others(25): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 4/9 | chr15 | TogoVar | ||||||
DNAAF4_chr15_55425308_55513234 | 55486174 | TTTGGTTG others(1): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02055.hp2 others(20): Show |
a0005 | a0005c0004 | a0005c0004t0003a0005c0004t0005 | a0005c0004t0003g0258a0005c0004t0003g0259a0005c0004t0003g0260others(20): Show | 23 | 338 | 0.0681 | -8 | c.405 others(25): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 4/9 | chr15 | TogoVar | ||||||
DNAAF6_chrX_107201611_107249247 | 107220902 | CCTTTCTT others(1): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG01071.hp2 others(39): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(24): Show | 42 | 296 | 0.1419 | -8 | c.333 others(25): Show |
DNAAF6 | ENSG00000080572.14 | transcript | ENST00000372453.8 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DNAAF6_chrX_107201611_107249247 | 107220953 | TTCTTTTT others(1): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02280.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145a0001c0001t0001g0150a0001c0001t0001g0151others(7): Show | 10 | 296 | 0.0338 | -8 | c.333 others(25): Show |
DNAAF6 | ENSG00000080572.14 | transcript | ENST00000372453.8 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DNAAF8_chr16_4729537_4754396 | 4741241 | AAAAAAAA others(1): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02280.hp2 others(15): Show |
a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0008a0004c0004t0003g0069a0004c0004t0003g0070others(8): Show | 18 | 386 | 0.0466 | -8 | c.783 others(23): Show |
DNAAF8 | ENSG00000166246.14 | transcript | ENST00000299320.10 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DNAAF9_chr20_3244306_3412669 | 3284173 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp2 others(46): Show |
a0001 | a0001c0003a0001c0004a0001c0018 | a0001c0003t0006a0001c0004t0003a0001c0004t0018others(4): Show | a0001c0003t0006g0008a0001c0003t0006g0009a0001c0003t0006g0348others(46): Show | 49 | 362 | 0.1354 | -8 | c.248 others(27): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 27/36 | chr20 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3310333 | AAAAGAAA others(1): Show |
A | intron_variant | MODIFIER | HG02027.hp1 HG02258.hp2 NA18966.hp2 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0081a0001c0004t0003g0102a0001c0004t0003g0106others(2): Show | 5 | 362 | 0.0138 | -8 | c.167 others(27): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 20/36 | chr20 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3332868 | GTGCGTGC others(1): Show |
G | intron_variant | MODIFIER | NA18960.hp2 NA18979.hp1 NA18984.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0154a0001c0002t0002g0155a0001c0002t0002g0171others(1): Show | 4 | 362 | 0.0111 | -8 | c.982 others(23): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 10/36 | chr20 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3344590 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(125): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(12): Show | a0001c0001t0001g0062a0001c0001t0001g0205a0001c0001t0001g0207others(125): Show | 128 | 362 | 0.3536 | -8 | c.790 others(23): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 8/36 | chr20 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3350121 | TCAGACAC others(1): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG00741.hp2 HG02647.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0002a0001c0003t0004others(1): Show | a0001c0001t0001g0264a0001c0002t0002g0157a0001c0003t0004g0007others(4): Show | 7 | 362 | 0.0193 | -8 | c.691 others(25): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 7/36 | chr20 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3365373 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(197): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0006others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(24): Show | a0001c0001t0001g0062a0001c0001t0001g0205a0001c0001t0001g0207others(197): Show | 200 | 362 | 0.5525 | -8 | c.613 others(25): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 6/36 | chr20 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3395293 | TTTTTTCT others(1): Show |
T | intron_variant | MODIFIER | NA18952.hp2 NA18985.hp2 NA18999.hp2 others(6): Show |
a0001a0005a0010 | a0001c0003a0005c0022a0010c0019 | a0001c0003t0005a0005c0022t0005a0010c0019t0005 | a0001c0003t0005g0014a0001c0003t0005g0015a0001c0003t0005g0016others(6): Show | 9 | 362 | 0.0249 | -8 | c.83+ others(25): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 1/36 | chr20 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123768139 | CTCCTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG01168.hp1 HG01169.hp1 others(27): Show |
a0001a0002a0004others(14): Show | a0001c0002a0001c0066a0002c0004others(18): Show | a0001c0002t0002a0001c0066t0001a0002c0004t0002others(18): Show | a0001c0002t0002g0137a0001c0066t0001g0132a0002c0004t0002g0135others(27): Show | 30 | 170 | 0.1765 | -8 | c.298 others(23): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 2/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123787395 | CTCTCTCT others(1): Show |
C | intron_variant | MODIFIER | HG02615.hp1 HG02630.hp2 HG03098.hp2 others(1): Show |
a0031a0032a0051others(1): Show | a0031c0040a0032c0039a0051c0038others(1): Show | a0031c0040t0001a0032c0039t0001a0051c0038t0001others(1): Show | a0031c0040t0001g0017a0032c0039t0001g0018a0051c0038t0001g0119others(1): Show | 4 | 170 | 0.0235 | -8 | c.142 others(25): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 9/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123807187 | ACATCCAT others(1): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG02280.hp2 HG02965.hp2 others(4): Show |
a0011a0026a0036others(2): Show | a0011c0028a0011c0084a0026c0081others(3): Show | a0011c0028t0001a0011c0084t0002a0026c0081t0002others(3): Show | a0011c0028t0001g0067a0011c0028t0001g0084a0011c0084t0002g0104others(4): Show | 7 | 170 | 0.0412 | -8 | c.298 others(27): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 18/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123843570 | CTTATTTA others(1): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG02559.hp2 |
a0061a0062 | a0061c0087a0062c0074 | a0061c0087t0001a0062c0074t0001 | a0061c0087t0001g0162a0062c0074t0001g0010 | 2 | 170 | 0.0118 | -8 | c.536 others(27): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 30/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123847143 | TATCCATC others(1): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG00642.hp1 HG01243.hp1 others(15): Show |
a0001a0002a0005others(8): Show | a0001c0062a0002c0011a0005c0007others(9): Show | a0001c0062t0002a0002c0011t0001a0005c0007t0002others(9): Show | a0001c0062t0002g0112a0002c0011t0001g0003a0005c0007t0002g0006others(15): Show | 18 | 170 | 0.1059 | -8 | c.581 others(25): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 32/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123847218 | TTATCTAT others(1): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00738.hp2 others(20): Show |
a0001a0002a0003others(7): Show | a0001c0002a0001c0003a0001c0062others(11): Show | a0001c0002t0002a0001c0003t0002a0001c0062t0002others(11): Show | a0001c0002t0002g0088a0001c0002t0002g0096a0001c0003t0002g0075others(20): Show | 23 | 170 | 0.1353 | -8 | c.581 others(25): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 32/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123847259 | TATCTATC others(1): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02280.hp1 HG02559.hp1 others(8): Show |
a0001a0007a0009others(5): Show | a0001c0059a0007c0010a0007c0097others(6): Show | a0001c0059t0002a0007c0010t0001a0007c0097t0001others(6): Show | a0001c0059t0002g0014a0007c0010t0001g0127a0007c0097t0001g0126others(8): Show | 11 | 170 | 0.0647 | -8 | c.581 others(25): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 32/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |