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 | 87653386 | GATATAT | G | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00741.hp1 others(19): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0010others(1): Show | a0001c0002t0004a0001c0002t0005a0001c0002t0021others(4): Show | a0001c0002t0004g0006a0001c0002t0004g0199a0001c0002t0005g0006others(10): Show | 22 | 430 | 0.0512 | -6 | c.-22 others(23): Show |
DMP1 | ENSG00000152592.15 | transcript | ENST00000339673.11 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
DMP1_chr4_87645280_87669357 | 87661204 | ATTTTTT | A | intron_variant | MODIFIER | HG00733.hp2 HG01069.hp1 HG01981.hp2 others(7): Show |
a0001a0003 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0004a0001c0003t0002a0001c0004t0006others(1): Show | a0001c0002t0004g0202a0001c0002t0004g0203a0001c0002t0004g0207others(6): Show | 10 | 430 | 0.0233 | -6 | c.184 others(21): Show |
DMP1 | ENSG00000152592.15 | transcript | ENST00000339673.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
DMP1_chr4_87645280_87669357 | 87665256 | TTGTGTG | T | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00738.hp2 others(30): Show |
a0001a0002a0005 | a0001c0002a0001c0004a0001c0009others(3): Show | a0001c0002t0003a0001c0002t0004a0001c0002t0008others(7): Show | a0001c0002t0003g0011a0001c0002t0003g0020a0001c0002t0003g0029others(26): Show | 33 | 430 | 0.0767 | -6 | c.*19 others(17): Show |
DMP1 | ENSG00000152592.15 | transcript | ENST00000339673.11 | protein_coding | 900 | chr4 | TogoVar | ||||||
DMP1_chr4_87645280_87669357 | 87667338 | CATATAT | C | downstream_gene_variant | MODIFIER | HG00438.hp1 HG01069.hp2 HG01071.hp1 others(13): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0004a0001c0009others(3): Show | a0001c0002t0003a0001c0002t0004a0001c0002t0005others(7): Show | a0001c0002t0003g0020a0001c0002t0003g0027a0001c0002t0003g0043others(11): Show | 16 | 430 | 0.0372 | -6 | c.*40 others(17): Show |
DMP1 | ENSG00000152592.15 | transcript | ENST00000339673.11 | protein_coding | 2982 | chr4 | TogoVar | ||||||
DMRT1_chr9_836697_974090 | 840722 | GGGGTGT | G | upstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01257.hp1 others(13): Show |
a0001 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0137a0001c0001t0001g0138a0001c0001t0001g0207others(13): Show | 16 | 306 | 0.0523 | -6 | c.-11 others(17): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 974 | chr9 | TogoVar | ||||||
DMRT1_chr9_836697_974090 | 862511 | TGGGGAG | T | intron_variant | MODIFIER | HG01515.hp2 NA18962.hp1 NA19005.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0004a0001c0007t0001 | a0001c0001t0001g0127a0001c0001t0004g0129a0001c0007t0001g0246 | 3 | 306 | 0.0098 | -6 | c.538 others(25): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DMRT1_chr9_836697_974090 | 897090 | ATATTAT | A | intron_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG02055.hp1 others(1): Show |
a0002 | a0002c0002a0002c0005 | a0002c0002t0003a0002c0005t0005a0002c0005t0020 | a0002c0002t0003g0234a0002c0005t0005g0021a0002c0005t0005g0023others(1): Show | 4 | 306 | 0.0131 | -6 | c.822 others(23): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DMRT1_chr9_836697_974090 | 906025 | ACACACC | A | intron_variant | MODIFIER | HG00140.hp2 HG00597.hp1 HG00642.hp1 others(28): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0088a0001c0001t0001g0102a0001c0001t0001g0103others(28): Show | 31 | 306 | 0.1013 | -6 | 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 | 907829 | ATGTGTG | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(149): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0006others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(26): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0088others(149): Show | 152 | 306 | 0.4967 | -6 | c.823 others(23): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DMRT1_chr9_836697_974090 | 926686 | GTAGAGA | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(131): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(20): Show | a0001c0001t0001g0002a0001c0001t0001g0088a0001c0001t0001g0089others(131): Show | 134 | 306 | 0.4379 | -6 | c.967 others(23): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 4/4 | chr9 | TogoVar | ||||||
DMRT1_chr9_836697_974090 | 926687 | TAGAGAG | T | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp2 HG02145.hp2 others(19): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(8): Show | a0001c0001t0001g0229a0001c0001t0001g0263a0001c0001t0001g0266others(19): Show | 22 | 306 | 0.0719 | -6 | c.967 others(23): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DMRT1_chr9_836697_974090 | 948903 | AAATAAT | A | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01515.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0009a0002c0002t0005 | a0001c0001t0001g0172a0001c0001t0001g0248a0001c0001t0001g0249others(4): Show | 7 | 306 | 0.0229 | -6 | c.968 others(25): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DMRT3_chr9_971655_996732 | 987412 | CTGTGTG | C | intron_variant | MODIFIER | HG01081.hp2 HG01192.hp2 HG02273.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0026others(2): Show | a0001c0001t0001g0138a0001c0001t0003g0044a0001c0001t0003g0182others(3): Show | 6 | 458 | 0.0131 | -6 | c.455 others(23): Show |
DMRT3 | ENSG00000064218.5 | transcript | ENST00000190165.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DMRTA2_chr1_50412550_50428443 | 50419101 | CCGGCGG | C | disruptive_inframe_deletion | MODERATE | HG00438.hp1 HG00544.hp1 HG00609.hp2 others(52): Show |
a0002a0006 | a0002c0002a0006c0012 | a0002c0002t0001a0002c0002t0002a0002c0002t0005others(1): Show | a0002c0002t0001g0003a0002c0002t0001g0006a0002c0002t0001g0023others(5): Show | 55 | 310 | 0.1774 | -6 | c.118 others(15): Show |
p.Ala others(13): Show |
DMRTA2 | ENSG00000142700.12 | transcript | ENST00000404795.4 | protein_coding | 3/3 | 1528/3080 | 1187/1629 | 396/542 | chr1 | TogoVar | ||
DMRTB1_chr1_53454399_53472488 | 53458073 | CAGAGAG | C | upstream_gene_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02572.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0005a0001c0001t0001g0019a0001c0001t0001g0032others(2): Show | 9 | 394 | 0.0228 | -6 | c.-13 others(17): Show |
DMRTB1 | ENSG00000143006.7 | transcript | ENST00000371445.3 | protein_coding | 1325 | chr1 | TogoVar | ||||||
DMRTB1_chr1_53454399_53472488 | 53464677 | TGCCGCC | T | disruptive_inframe_deletion | MODERATE | HG00438.hp1 NA18954.hp2 NA19064.hp1 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0001 | 3 | 394 | 0.0076 | -6 | c.804 others(13): Show |
p.Pro others(13): Show |
DMRTB1 | ENSG00000143006.7 | transcript | ENST00000371445.3 | protein_coding | 3/4 | 859/1910 | 804/1029 | 268/342 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
DMRTC1B_chrX_72771890_72853803 | 72817876 | ATGTGTG | A | intron_variant | MODIFIER | HG00621.hp1 HG00642.hp1 HG01074.hp2 others(10): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0001a0001c0001t0002g0021a0001c0001t0004g0019others(10): Show | 13 | 26 | 0.5000 | -6 | 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 | 72879147 | GTTTTTT | G | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0028 | 1 | 54 | 0.0185 | -6 | c.-94 others(23): Show |
DMRTC1 | ENSG00000269502.6 | transcript | ENST00000615063.2 | protein_coding | 1/6 | chrX | TogoVar | ||||||
DMRTC1_chrX_72867025_72948837 | 72902909 | GACACAC | G | intron_variant | MODIFIER | HG01109.hp1 HG02257.hp1 HG02572.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0016a0001c0001t0002g0025a0001c0001t0004g0022others(2): Show | 5 | 54 | 0.0926 | -6 | c.-94 others(25): Show |
DMRTC1 | ENSG00000269502.6 | transcript | ENST00000615063.2 | protein_coding | 1/6 | chrX | TogoVar | ||||||
DMTN_chr8_22051814_22087525 | 22065827 | CTTTTTT | C | intron_variant | MODIFIER | HG00735.hp1 HG01175.hp2 HG01243.hp1 others(15): Show |
a0001 | a0001c0001a0001c0006a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0171a0001c0001t0001g0239a0001c0001t0001g0240others(14): Show | 18 | 324 | 0.0556 | -6 | c.-17 others(23): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DMTN_chr8_22051814_22087525 | 22073630 | CAAAAAA | C | intron_variant | MODIFIER | HG00323.hp2 HG02615.hp1 HG02895.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067a0001c0001t0001g0123a0001c0001t0001g0168others(5): Show | 8 | 324 | 0.0247 | -6 | c.730 others(19): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DMTN_chr8_22051814_22087525 | 22079273 | AATAAAT | A | intron_variant | MODIFIER | HG00673.hp1 HG03130.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009 | a0001c0001t0004g0050a0001c0001t0009g0053a0001c0001t0009g0055 | 3 | 324 | 0.0093 | -6 | c.836 others(21): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DMTN_chr8_22051814_22087525 | 22079296 | ATATATT | A | intron_variant | MODIFIER | HG01243.hp1 HG02976.hp2 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0011a0001c0001t0004g0051 | 3 | 324 | 0.0093 | -6 | c.836 others(21): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 10/15 | chr8 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119077754 | AGTGTGT | A | intron_variant | MODIFIER | HG00558.hp1 HG01069.hp1 HG01261.hp2 others(21): Show |
a0001a0002a0023 | a0001c0002a0002c0003a0002c0035others(2): Show | a0001c0002t0001a0002c0003t0001a0002c0003t0004others(5): Show | a0001c0002t0001g0070a0001c0002t0001g0088a0002c0003t0001g0058others(21): Show | 24 | 238 | 0.1008 | -6 | c.87+ others(21): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 1/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DMXL1_chr5_119066087_119254127 | 119081997 | TTATATA | T | intron_variant | MODIFIER | HG02257.hp1 NA18522.hp1 |
a0005 | a0005c0014 | a0005c0014t0005 | a0005c0014t0005g0033a0005c0014t0005g0034 | 2 | 238 | 0.0084 | -6 | 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 | TACACAC | T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00597.hp2 others(9): Show |
a0001a0011a0021 | a0001c0002a0001c0008a0001c0028others(3): Show | a0001c0002t0001a0001c0002t0006a0001c0008t0001others(4): Show | a0001c0002t0001g0082a0001c0002t0001g0083a0001c0002t0001g0101others(9): Show | 12 | 238 | 0.0504 | -6 | 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 | 119173774 | GTGTATA | G | intron_variant | MODIFIER | HG02572.hp2 HG02895.hp1 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0045a0001c0001t0002g0054a0001c0001t0002g0055 | 3 | 238 | 0.0126 | -6 | c.668 others(25): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 25/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DMXL1_chr5_119066087_119254127 | 119174781 | CCTTTCT | C | intron_variant | MODIFIER | HG00609.hp2 HG01069.hp1 HG01261.hp2 others(21): Show |
a0002a0023 | a0002c0003a0002c0035a0023c0029 | a0002c0003t0001a0002c0003t0004a0002c0003t0006others(3): Show | a0002c0003t0001g0058a0002c0003t0001g0062a0002c0003t0001g0063others(21): Show | 24 | 238 | 0.1008 | -6 | c.668 others(23): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 25/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DMXL1_chr5_119066087_119254127 | 119195067 | AAAAAAC | A | intron_variant | MODIFIER | HG00280.hp2 HG01106.hp2 HG01256.hp2 others(2): Show |
a0001a0006 | a0001c0002a0006c0011 | a0001c0002t0001a0006c0011t0001a0006c0011t0004 | a0001c0002t0001g0203a0001c0002t0001g0204a0006c0011t0001g0119others(2): Show | 5 | 238 | 0.0210 | -6 | c.745 others(25): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 30/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DMXL1_chr5_119066087_119254127 | 119215334 | GTCTTGC | G | intron_variant | MODIFIER | HG02895.hp2 HG02896.hp2 HG02897.hp1 others(2): Show |
a0009a0011 | a0009c0010a0011c0018 | a0009c0010t0007a0011c0018t0012a0011c0018t0016 | a0009c0010t0007g0002a0009c0010t0007g0003a0009c0010t0007g0004others(2): Show | 5 | 238 | 0.0210 | -6 | c.792 others(25): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 34/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DMXL2_chr15_51442791_51627771 | 51444350 | CTAACTT | C | downstream_gene_variant | MODIFIER | HG02809.hp2 HG03453.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0161a0001c0001t0002g0173a0001c0001t0002g0178 | 3 | 346 | 0.0087 | -6 | c.*46 others(17): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 3440 | chr15 | TogoVar | ||||||
DMXL2_chr15_51442791_51627771 | 51458894 | TAGCAGC | T | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(169): Show |
a0002a0003a0004others(8): Show | a0002c0002a0002c0004a0002c0006others(20): Show | a0002c0002t0001a0002c0002t0006a0002c0002t0010others(25): Show | a0002c0002t0001g0005a0002c0002t0001g0213a0002c0002t0001g0214others(165): Show | 172 | 346 | 0.4971 | -6 | c.799 others(23): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 34/43 | chr15 | TogoVar | ||||||
DMXL2_chr15_51442791_51627771 | 51566232 | GGTGTGT | G | intron_variant | MODIFIER | HG00323.hp1 HG00609.hp2 HG00642.hp1 others(16): Show |
a0001a0003a0008 | a0001c0001a0001c0007a0001c0018others(2): Show | a0001c0001t0001a0001c0007t0002a0001c0018t0001others(3): Show | a0001c0001t0001g0097a0001c0001t0001g0098a0001c0001t0001g0106others(16): Show | 19 | 346 | 0.0549 | -6 | c.286 others(23): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 3/43 | chr15 | TogoVar | ||||||
DNA2_chr10_68409064_68476973 | 68462555 | ACTTACC | A | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp2 HG00544.hp2 others(90): Show |
a0001a0002a0005others(1): Show | a0001c0002a0001c0004a0001c0007others(6): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(14): Show | a0001c0002t0001g0092a0001c0002t0001g0093a0001c0002t0001g0094others(90): Show | 93 | 326 | 0.2853 | -6 | c.587 others(23): Show |
DNA2 | ENSG00000138346.16 | transcript | ENST00000358410.8 | protein_coding | 4/20 | chr10 | TogoVar | ||||||
DNA2_chr10_68409064_68476973 | 68464829 | CAAAAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp2 HG00544.hp2 others(56): Show |
a0001a0005 | a0001c0002a0001c0007a0005c0013 | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(4): Show | a0001c0002t0001g0093a0001c0002t0001g0094a0001c0002t0001g0095others(56): Show | 59 | 326 | 0.1810 | -6 | c.587 others(21): Show |
DNA2 | ENSG00000138346.16 | transcript | ENST00000358410.8 | protein_coding | 4/20 | chr10 | TogoVar | ||||||
DNA2_chr10_68409064_68476973 | 68467757 | ATTTATT | A | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01952.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0303a0001c0001t0002g0304a0001c0001t0002g0307 | 3 | 326 | 0.0092 | -6 | c.441 others(21): Show |
DNA2 | ENSG00000138346.16 | transcript | ENST00000358410.8 | protein_coding | 3/20 | chr10 | TogoVar | ||||||
DNA2_chr10_68409064_68476973 | 68469390 | CAAAAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp2 HG00544.hp2 others(70): Show |
a0001a0005 | a0001c0002a0001c0007a0005c0013 | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(4): Show | a0001c0002t0001g0092a0001c0002t0001g0093a0001c0002t0001g0094others(70): Show | 73 | 326 | 0.2239 | -6 | c.257 others(21): Show |
DNA2 | ENSG00000138346.16 | transcript | ENST00000358410.8 | protein_coding | 2/20 | chr10 | TogoVar | ||||||
DNAAF10_chr2_68124805_68162527 | 68130104 | TGAGAGA | T | 3_prime_UTR_variant | MODIFIER | HG02145.hp2 HG02965.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0028a0001c0001t0048 | a0001c0001t0028g0099a0001c0001t0028g0113a0001c0001t0048g0265 | 3 | 432 | 0.0069 | -6 | c.*11 others(17): Show |
DNAAF10 | ENSG00000243667.7 | transcript | ENST00000295121.11 | protein_coding | 8/8 | 1128 | chr2 | TogoVar | |||||
DNAAF10_chr2_68124805_68162527 | 68159274 | GTGTGTA | G | upstream_gene_variant | MODIFIER | HG01167.hp1 HG01243.hp1 HG01433.hp2 others(7): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0017a0001c0001t0029a0001c0001t0033others(5): Show | a0001c0001t0017g0260a0001c0001t0017g0261a0001c0001t0017g0263others(7): Show | 10 | 432 | 0.0232 | -6 | c.-18 others(17): Show |
DNAAF10 | ENSG00000243667.7 | transcript | ENST00000295121.11 | protein_coding | 1748 | chr2 | TogoVar | ||||||
DNAAF11_chr8_132565416_132680545 | 132593332 | CATATAT | C | intron_variant | MODIFIER | HG01109.hp1 HG02559.hp2 HG02630.hp2 |
a0002 | a0002c0002a0002c0004a0002c0006 | a0002c0002t0001a0002c0004t0010a0002c0006t0001 | a0002c0002t0001g0232a0002c0004t0010g0014a0002c0006t0001g0010 | 3 | 276 | 0.0109 | -6 | c.114 others(25): Show |
DNAAF11 | ENSG00000129295.10 | transcript | ENST00000620350.5 | protein_coding | 10/11 | chr8 | TogoVar | ||||||
DNAAF11_chr8_132565416_132680545 | 132595347 | GGAAAAA | G | intron_variant | MODIFIER | HG02040.hp2 HG02155.hp2 HG02523.hp1 others(4): Show |
a0002a0004 | a0002c0002a0004c0005 | a0002c0002t0001a0002c0002t0003a0004c0005t0001 | a0002c0002t0001g0084a0002c0002t0001g0086a0002c0002t0001g0087others(4): Show | 7 | 276 | 0.0254 | -6 | c.114 others(27): Show |
DNAAF11 | ENSG00000129295.10 | transcript | ENST00000620350.5 | protein_coding | 10/11 | chr8 | TogoVar | ||||||
DNAAF11_chr8_132565416_132680545 | 132602744 | AATATAT | A | intron_variant | MODIFIER | HG01109.hp1 HG02109.hp2 HG03098.hp2 |
a0002a0003a0008 | a0002c0006a0003c0003a0008c0011 | a0002c0006t0001a0003c0003t0002a0008c0011t0009 | a0002c0006t0001g0010a0003c0003t0002g0056a0008c0011t0009g0031 | 3 | 276 | 0.0109 | -6 | c.114 others(25): Show |
DNAAF11 | ENSG00000129295.10 | transcript | ENST00000620350.5 | protein_coding | 10/11 | chr8 | TogoVar | ||||||
DNAAF11_chr8_132565416_132680545 | 132606669 | CTAATTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00621.hp2 HG00741.hp1 others(51): Show |
a0002a0003a0007others(1): Show | a0002c0002a0002c0004a0002c0006others(3): Show | a0002c0002t0001a0002c0004t0001a0002c0004t0005others(7): Show | a0002c0002t0001g0032a0002c0002t0001g0033a0002c0002t0001g0057others(48): Show | 54 | 276 | 0.1957 | -6 | c.114 others(25): Show |
DNAAF11 | ENSG00000129295.10 | transcript | ENST00000620350.5 | protein_coding | 10/11 | chr8 | TogoVar | ||||||
DNAAF3_chr19_55153665_55171613 | 55168402 | TATATAG | T | upstream_gene_variant | MODIFIER | HG01081.hp2 HG01192.hp1 HG02145.hp2 others(6): Show |
a0002 | a0002c0003a0002c0006 | a0002c0003t0001a0002c0006t0001 | a0002c0003t0001g0010a0002c0003t0001g0012a0002c0003t0001g0041others(4): Show | 9 | 398 | 0.0226 | -6 | c.-18 others(17): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 1790 | chr19 | TogoVar | ||||||
DNAAF3_chr19_55153665_55171613 | 55168404 | TATAGAG | T | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01109.hp2 HG01243.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0006 | a0001c0001t0001a0002c0003t0001a0002c0006t0001 | a0001c0001t0001g0017a0001c0001t0001g0018a0001c0001t0001g0096others(4): Show | 8 | 398 | 0.0201 | -6 | c.-18 others(17): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 1792 | chr19 | TogoVar | ||||||
DNAAF3_chr19_55153665_55171613 | 55168406 | TAGAGAG | T | upstream_gene_variant | MODIFIER | HG00558.hp2 HG01069.hp1 HG01071.hp1 others(10): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0003others(1): Show | a0001c0001t0001a0001c0004t0001a0002c0003t0001others(1): Show | a0001c0001t0001g0018a0001c0001t0001g0043a0001c0001t0001g0065others(8): Show | 13 | 398 | 0.0327 | -6 | c.-18 others(17): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 1794 | chr19 | TogoVar | ||||||
DNAAF3_chr19_55153665_55171613 | 55171305 | CCACACA | C | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00544.hp2 others(65): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0003a0003c0002others(2): Show | a0001c0001t0001a0002c0003t0001a0003c0002t0001others(2): Show | a0001c0001t0001g0003a0001c0001t0001g0013a0001c0001t0001g0020others(20): Show | 68 | 398 | 0.1709 | -6 | c.-47 others(17): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 4693 | chr19 | TogoVar | ||||||
DNAAF4_chr15_55425308_55513234 | 55428484 | CTTTTTT | C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG01069.hp2 HG01109.hp1 others(8): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0011 | a0001c0001t0001a0002c0002t0001a0007c0011t0001 | a0001c0001t0001g0005a0001c0001t0001g0062a0001c0001t0001g0165others(8): Show | 11 | 338 | 0.0325 | -6 | c.*21 others(17): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 1823 | chr15 | TogoVar | ||||||
DNAAF4_chr15_55425308_55513234 | 55431359 | TACACAC | T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(109): Show |
a0002a0003a0004others(1): Show | a0002c0002a0003c0003a0004c0005others(1): Show | a0002c0002t0001a0002c0002t0006a0003c0003t0001others(6): Show | a0002c0002t0001g0065a0002c0002t0001g0067a0002c0002t0001g0068others(109): Show | 112 | 338 | 0.3314 | -6 | c.115 others(23): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 9/9 | chr15 | TogoVar | ||||||
DNAAF4_chr15_55425308_55513234 | 55448517 | AGGGTGT | A | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01891.hp2 others(17): Show |
a0001a0004a0005 | a0001c0001a0004c0005a0004c0007others(1): Show | a0001c0001t0001a0004c0005t0003a0004c0007t0003others(1): Show | a0001c0001t0001g0156a0004c0005t0003g0298a0004c0007t0003g0299others(17): Show | 20 | 338 | 0.0592 | -6 | c.783 others(23): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 6/9 | chr15 | TogoVar |