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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DIP2C_chr10_269201_694668 | 345534 | CGCGCATA others(41): Show |
C | intron_variant | MODIFIER | HG01081.hp2 NA20129.hp2 |
a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0076 a0001c0007t0002g0077 |
2 | 88 | 0.0227 | -48 | c.323 others(65): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 26/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 345931 | CTACATAC others(41): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp2 HG00673.hp1 others(59): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0024 others(59): Show |
62 | 87 | 0.7126 | -48 | c.323 others(65): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 26/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 346354 | TCACCCAA others(41): Show |
T | intron_variant | MODIFIER | HG00609.hp2 HG00673.hp1 HG00738.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0002others(9): Show | a0001c0001t0001g0039 a0001c0002t0001g0059 a0001c0003t0002g0021 others(19): Show |
22 | 88 | 0.2500 | -48 | c.323 others(67): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 26/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 358699 | CGGGGGAT others(41): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG01099.hp1 HG01258.hp2 others(6): Show |
a0001 | a0001c0001a0001c0004a0001c0012others(1): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0003others(2): Show | a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0042 others(6): Show |
9 | 88 | 0.1023 | -48 | c.279 others(65): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 22/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 608316 | CACACACA others(41): Show |
C | intron_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0016 | 1 | 88 | 0.0114 | -48 | c.85+ others(65): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | |||||||
DIPK2A_chr3_143966823_143997368 | 143978612 | ATATCTAT others(41): Show |
A | intron_variant | MODIFIER | HG03491.hp1 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0053 | 2 | 324 | 0.0062 | -48 | c.657 others(65): Show |
DIPK2A | ENSG00000181744.9 | transcript | ENST00000315691.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DIPK2A_chr3_143966823_143997368 | 143978634 | ATATATCT others(41): Show |
A | intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0078 | 1 | 406 | 0.0025 | -48 | c.657 others(65): Show |
DIPK2A | ENSG00000181744.9 | transcript | ENST00000315691.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DIS3L2_chr2_231956713_232342192 | 232333179 | TCCTCCTC others(41): Show |
T | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0142 | 1 | 302 | 0.0033 | -48 | c.201 others(65): Show |
DIS3L2 | ENSG00000144535.20 | transcript | ENST00000325385.12 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DLG2_chr11_83450173_85632344 | 84844065 | TTGTGTGT others(41): Show |
T | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 14 | 0.0714 | -48 | c.357 others(69): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 6/27 | chr11 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 3772342 | CTCTCTCT others(41): Show |
C | intron_variant | MODIFIER | HG00099.hp2 NA19043.hp1 |
a0001 | a0001c0005a0001c0006 | a0001c0005t0005a0001c0006t0005 | a0001c0005t0005g0038 a0001c0006t0005g0007 |
2 | 43 | 0.0465 | -48 | c.117 others(69): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 5/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 3833130 | ATTCCTTC others(41): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00639.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0005 a0001c0001t0002g0008 a0001c0001t0003g0071 others(13): Show |
16 | 17 | 0.9412 | -48 | c.958 others(67): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 4/12 | chr18 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1248400 | GGGAGTGA others(41): Show |
G | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0002 | a0001c0002t0027 | a0001c0002t0027g0023 | 1 | 40 | 0.0250 | -48 | c.74- others(65): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1257673 | TGAGGGCC others(41): Show |
T | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0002 | a0001c0002t0027 | a0001c0002t0027g0023 | 1 | 40 | 0.0250 | -48 | c.74- others(63): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP4_chr20_36301339_36533633 | 36390823 | CCCCAGAC others(41): Show |
C | intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0055 | 1 | 142 | 0.0070 | -48 | c.-73 others(67): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31421904 | CACACACA others(41): Show |
C | intron_variant | MODIFIER | HG02976.hp2 HG03209.hp1 |
a0002a0005 | a0002c0025a0005c0056 | a0002c0025t0008a0005c0056t0001 | a0002c0025t0008g0108 a0005c0056t0001g0103 |
2 | 125 | 0.0160 | -48 | c.908 others(69): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 60/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32452297 | AGGAAAGG others(41): Show |
A | intron_variant | MODIFIER | HG02451.hp1 HG02647.hp1 HG02723.hp2 others(2): Show |
a0002a0005a0021others(1): Show | a0002c0005a0005c0007a0005c0056others(2): Show | a0002c0005t0001a0005c0007t0002a0005c0056t0001others(2): Show | a0002c0005t0001g0088 a0005c0007t0002g0089 a0005c0056t0001g0103 others(2): Show |
5 | 125 | 0.0400 | -48 | c.360 others(67): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 26/78 | chrX | TogoVar | |||||||
DNAAF3_chr19_55153665_55171613 | 55160297 | GACAGACA others(41): Show |
G | intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0055 | 1 | 396 | 0.0025 | -48 | c.104 others(65): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 9/11 | chr19 | TogoVar | |||||||
DNAAF6_chrX_107201611_107249247 | 107204721 | TTTATTTA others(41): Show |
T | upstream_gene_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 268 | 0.0037 | -48 | c.-19 others(59): Show |
DNAAF6 | ENSG00000080572.14 | transcript | ENST00000372453.8 | protein_coding | 1889 | chrX | TogoVar | |||||||
DNAAF6_chrX_107201611_107249247 | 107204821 | TTTAAATA others(41): Show |
T | upstream_gene_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 294 | 0.0034 | -48 | c.-18 others(59): Show |
DNAAF6 | ENSG00000080572.14 | transcript | ENST00000372453.8 | protein_coding | 1789 | chrX | TogoVar | |||||||
DNAAF6_chrX_107201611_107249247 | 107204845 | TTTATTTA others(41): Show |
T | upstream_gene_variant | MODIFIER | HG02886.hp2 HG02976.hp2 HG03130.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0034 a0001c0001t0001g0104 a0001c0001t0001g0105 others(2): Show |
6 | 284 | 0.0211 | -48 | c.-18 others(59): Show |
DNAAF6 | ENSG00000080572.14 | transcript | ENST00000372453.8 | protein_coding | 1765 | chrX | TogoVar | |||||||
DNAH14_chr1_224924675_225404286 | 225078795 | TCTCTCTC others(41): Show |
T | intron_variant | MODIFIER | HG02896.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0178 | 1 | 237 | 0.0042 | -48 | c.242 others(65): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 17/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78540879 | ATGGGTGG others(41): Show |
A | intron_variant | MODIFIER | NA20300.hp1 | a0137 | a0137c0108 | a0137c0108t0001 | a0137c0108t0001g0069 | 1 | 211 | 0.0047 | -48 | c.253 others(67): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 17/80 | chr17 | TogoVar | |||||||
DNAH9_chr17_11593470_11974748 | 11941789 | GATAGATA others(41): Show |
G | intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0174 | 1 | 176 | 0.0057 | -48 | c.126 others(67): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 66/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAI2_chr17_74269234_74319884 | 74301850 | AGAAGGAA others(41): Show |
A | intron_variant | MODIFIER | HG02129.hp1 NA18942.hp2 NA18977.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0025 a0001c0001t0001g0049 a0001c0001t0001g0084 others(2): Show |
5 | 374 | 0.0134 | -48 | c.987 others(63): Show |
DNAI2 | ENSG00000171595.14 | transcript | ENST00000311014.11 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAI4_chr1_66807885_66929856 | 66836196 | GAAAGAAA others(41): Show |
G | intron_variant | MODIFIER | HG01934.hp1 HG02976.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0003 a0002c0002t0001g0013 |
2 | 258 | 0.0078 | -48 | c.158 others(65): Show |
DNAI4 | ENSG00000152763.17 | transcript | ENST00000371026.8 | protein_coding | 10/16 | chr1 | TogoVar | |||||||
DNAJC12_chr10_67791669_67843188 | 67819687 | AAAGAAAG others(41): Show |
A | intron_variant | MODIFIER | HG03195.hp1 HG03490.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0005 a0001c0001t0003g0049 |
2 | 278 | 0.0072 | -48 | c.157 others(65): Show |
DNAJC12 | ENSG00000108176.15 | transcript | ENST00000225171.7 | protein_coding | 2/4 | chr10 | TogoVar | |||||||
DNAJC12_chr10_67791669_67843188 | 67819695 | AAAGGAAG others(41): Show |
A | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 a0001c0001t0001g0122 |
2 | 287 | 0.0070 | -48 | c.157 others(65): Show |
DNAJC12 | ENSG00000108176.15 | transcript | ENST00000225171.7 | protein_coding | 2/4 | chr10 | TogoVar | |||||||
DNAJC25_chr9_111626334_111659345 | 111641935 | GGGGGGTT others(41): Show |
G | intron_variant | MODIFIER | HG00733.hp2 HG00738.hp2 HG01074.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 a0001c0001t0001g0055 a0001c0001t0001g0170 others(2): Show |
8 | 410 | 0.0195 | -48 | c.337 others(65): Show |
DNAJC25 | ENSG00000059769.20 | transcript | ENST00000313525.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DNMT3A_chr2_25222874_25346925 | 25300600 | TATATCTA others(41): Show |
T | intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0005 | a0001c0005t0130 | a0001c0005t0130g0123 | 1 | 59 | 0.0169 | -48 | c.73- others(61): Show |
DNMT3A | ENSG00000119772.19 | transcript | ENST00000321117.10 | protein_coding | 2/22 | chr2 | TogoVar | |||||||
DNMT3B_chr20_32757385_32814356 | 32812332 | ACCACCCC others(41): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00438.hp2 others(129): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(16): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(115): Show |
132 | 296 | 0.4459 | -48 | c.*44 others(59): Show |
DNMT3B | ENSG00000088305.19 | transcript | ENST00000328111.6 | protein_coding | 2977 | chr20 | TogoVar | |||||||
DNTTIP1_chr20_45786954_45816418 | 45800688 | AAAAAAAA others(41): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG02015.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0003 | 2 | 410 | 0.0049 | -48 | c.373 others(63): Show |
DNTTIP1 | ENSG00000101457.13 | transcript | ENST00000372622.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DNTTIP1_chr20_45786954_45816418 | 45800690 | AAAAAATA others(41): Show |
A | intron_variant | MODIFIER | HG01943.hp2 HG01981.hp2 HG02027.hp2 others(27): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0003 a0002c0003t0001g0012 a0002c0003t0001g0025 others(9): Show |
30 | 395 | 0.0759 | -48 | c.373 others(63): Show |
DNTTIP1 | ENSG00000101457.13 | transcript | ENST00000372622.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DOC2B_chr17_137789_186650 | 166707 | CGTAGTGA others(41): Show |
C | intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0002 | a0001c0002t0061 | a0001c0002t0061g0078 | 1 | 200 | 0.0050 | -48 | c.454 others(65): Show |
DOC2B | ENSG00000272636.5 | transcript | ENST00000613549.3 | protein_coding | 2/8 | chr17 | TogoVar | |||||||
DOC2B_chr17_137789_186650 | 168667 | GTTCTTGA others(41): Show |
G | intron_variant | MODIFIER | HG00741.hp1 HG01069.hp2 HG01070.hp1 others(26): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0017others(4): Show | a0001c0001t0001g0005 a0001c0001t0001g0093 a0001c0001t0001g0131 others(24): Show |
29 | 338 | 0.0858 | -48 | c.453 others(65): Show |
DOC2B | ENSG00000272636.5 | transcript | ENST00000613549.3 | protein_coding | 2/8 | chr17 | TogoVar | |||||||
DOCK10_chr2_224760090_225047468 | 225016523 | ATGCACAT others(41): Show |
A | intron_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0009 | a0002c0009t0003 | a0002c0009t0003g0105 | 1 | 170 | 0.0059 | -48 | c.123 others(67): Show |
DOCK10 | ENSG00000135905.21 | transcript | ENST00000258390.12 | protein_coding | 1/55 | chr2 | TogoVar | |||||||
DOCK10_chr2_224760090_225047468 | 225035588 | AACACTGA others(41): Show |
A | intron_variant | MODIFIER | NA19240.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0055 | 1 | 169 | 0.0059 | -48 | c.123 others(65): Show |
DOCK10 | ENSG00000135905.21 | transcript | ENST00000258390.12 | protein_coding | 1/55 | chr2 | TogoVar | |||||||
DOCK3_chr3_50669927_51389198 | 50670661 | TGTGTTAA others(41): Show |
T | upstream_gene_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 210 | 0.0048 | -48 | c.-46 others(59): Show |
DOCK3 | ENSG00000088538.13 | transcript | ENST00000266037.10 | protein_coding | 4265 | chr3 | TogoVar | |||||||
DOCK3_chr3_50669927_51389198 | 51016048 | TATATATC others(41): Show |
T | intron_variant | MODIFIER | HG02559.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 a0001c0001t0001g0185 |
2 | 210 | 0.0095 | -48 | c.316 others(67): Show |
DOCK3 | ENSG00000088538.13 | transcript | ENST00000266037.10 | protein_coding | 5/52 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DOCK4_chr7_111721110_112211399 | 112066676 | CATATATA others(41): Show |
C | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0079 | 1 | 81 | 0.0123 | -48 | c.38- others(65): Show |
DOCK4 | ENSG00000128512.24 | transcript | ENST00000428084.6 | protein_coding | 1/52 | chr7 | TogoVar | |||||||
DOCK8_chr9_209865_470255 | 400644 | TCACCACC others(41): Show |
T | intron_variant | MODIFIER | HG01433.hp1 | a0002 | a0002c0100 | a0002c0100t0004 | a0002c0100t0004g0031 | 1 | 208 | 0.0048 | -48 | c.323 others(67): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DOK5_chr20_54470593_54656169 | 54486325 | GATATGTC others(41): Show |
G | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0059 | 1 | 119 | 0.0084 | -48 | c.66+ others(65): Show |
DOK5 | ENSG00000101134.12 | transcript | ENST00000262593.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DONSON_chr21_33572551_33593684 | 33577604 | TACACACA others(41): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02615.hp1 NA18906.hp1 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 a0001c0001t0001g0106 a0001c0001t0001g0225 |
3 | 74 | 0.0405 | -48 | c.*65 others(57): Show |
DONSON | ENSG00000159147.18 | transcript | ENST00000303071.10 | protein_coding | 10/10 | 655 | chr21 | TogoVar | ||||||
DPEP2NB_chr16_68008436_68020911 | 68020799 | ACATATAT others(41): Show |
A | upstream_gene_variant | MODIFIER | HG03041.hp2 HG03225.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0026 |
3 | 360 | 0.0083 | -48 | c.-50 others(59): Show |
DPEP2NB | ENSG00000263201.1 | transcript | ENST00000574912.1 | protein_coding | 4889 | chr16 | TogoVar | |||||||
DPP9_chr19_4670227_4728842 | 4672111 | TTATATAT others(41): Show |
T | downstream_gene_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 170 | 0.0059 | -48 | c.*44 others(59): Show |
DPP9 | ENSG00000142002.19 | transcript | ENST00000262960.14 | protein_coding | 3115 | chr19 | TogoVar | |||||||
DPP9_chr19_4670227_4728842 | 4672249 | ATATTCAT others(41): Show |
A | downstream_gene_variant | MODIFIER | HG01243.hp1 HG02451.hp2 HG02622.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0014 a0001c0001t0001g0029 a0001c0001t0002g0260 others(3): Show |
6 | 309 | 0.0194 | -48 | c.*42 others(59): Show |
DPP9 | ENSG00000142002.19 | transcript | ENST00000262960.14 | protein_coding | 2977 | chr19 | TogoVar | |||||||
DPY30_chr2_32018905_32044805 | 32043266 | TAGAGACC others(41): Show |
T | upstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0231 | 1 | 382 | 0.0026 | -48 | c.-36 others(59): Show |
DPY30 | ENSG00000162961.14 | transcript | ENST00000342166.10 | protein_coding | 3462 | chr2 | TogoVar | |||||||
DRC7_chr16_57689806_57736805 | 57729170 | GTGGGTGG others(41): Show |
G | intron_variant | MODIFIER | HG00609.hp2 HG02083.hp1 |
a0012a0015 | a0012c0024a0015c0032 | a0012c0024t0007a0015c0032t0004 | a0012c0024t0007g0323 a0015c0032t0004g0131 |
2 | 386 | 0.0052 | -48 | c.239 others(65): Show |
DRC7 | ENSG00000159625.15 | transcript | ENST00000360716.8 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DRD4_chr11_632269_645706 | 640056 | TCCCCGGG others(41): Show |
T | disruptive_inframe_deletion | MODERATE | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 420 | 0.0024 | -48 | c.812 others(55): Show |
p.Arg others(13): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 3/4 | 848/1399 | 812/1260 | 271/419 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
DRD4_chr11_632269_645706 | 640065 | TCCCTGCG others(41): Show |
T | conservative_inframe_deletion | MODERATE | HG01346.hp1 NA19087.hp1 NA19091.hp1 |
a0001a0002 | a0001c0002a0002c0015 | a0001c0002t0001a0002c0015t0001 | a0001c0002t0001g0001 a0002c0015t0001g0001 |
3 | 420 | 0.0071 | -48 | c.841 others(55): Show |
p.Ala others(13): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 3/4 | 877/1399 | 841/1260 | 281/419 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
DTD1_chr20_18583054_18771644 | 18708206 | TTTTATAT others(41): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00741.hp1 HG01257.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0019 a0001c0001t0005g0021 a0001c0001t0005g0022 others(4): Show |
7 | 394 | 0.0178 | -48 | c.478 others(67): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |