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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CYTH2_chr19_48464369_48487314 | 48482789 | AAGTCCAG others(29): Show |
A | downstream_gene_variant | MODIFIER | HG01243.hp1 HG02630.hp2 HG02922.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0002t0005 | a0001c0001t0008g0018 a0001c0001t0008g0030 a0001c0001t0008g0031 others(3): Show |
9 | 364 | 0.0247 | -36 | c.*35 others(47): Show |
CYTH2 | ENSG00000105443.17 | transcript | ENST00000452733.7 | protein_coding | 476 | chr19 | TogoVar | |||||||
DAB1_chr1_56989778_57429060 | 57273541 | GCCTGCCT others(29): Show |
G | intron_variant | MODIFIER | HG02897.hp2 HG03540.hp2 HG04228.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0016 | a0001c0001t0002g0110 a0001c0001t0006g0106 a0001c0001t0016g0093 |
3 | 127 | 0.0236 | -36 | c.67+ others(53): Show |
DAB1 | ENSG00000173406.16 | transcript | ENST00000371236.7 | protein_coding | 2/14 | chr1 | TogoVar | |||||||
DAB1_chr1_56989778_57429060 | 57273584 | TTCCTTCC others(29): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0039 a0001c0001t0003g0111 |
2 | 136 | 0.0147 | -36 | c.67+ others(53): Show |
DAB1 | ENSG00000173406.16 | transcript | ENST00000371236.7 | protein_coding | 2/14 | chr1 | TogoVar | |||||||
DAB2_chr5_39366677_39429980 | 39366844 | GAAAAATA others(29): Show |
G | downstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243 | 1 | 412 | 0.0024 | -36 | c.*65 others(47): Show |
DAB2 | ENSG00000153071.15 | transcript | ENST00000320816.11 | protein_coding | 4832 | chr5 | TogoVar | |||||||
DACH1_chr13_71432966_71872204 | 71735529 | CACGTATA others(29): Show |
C | intron_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG01109.hp2 others(18): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0011 a0001c0001t0001g0024 a0001c0001t0001g0036 others(18): Show |
21 | 100 | 0.2100 | -36 | c.849 others(55): Show |
DACH1 | ENSG00000276644.5 | transcript | ENST00000613252.5 | protein_coding | 1/10 | chr13 | TogoVar | |||||||
DACH2_chrX_86143451_86837602 | 86205458 | CTCCCTCC others(29): Show |
C | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018 | 1 | 157 | 0.0064 | -36 | c.488 others(55): Show |
DACH2 | ENSG00000126733.22 | transcript | ENST00000373125.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DACH2_chrX_86143451_86837602 | 86274456 | TTTTTTTT others(29): Show |
T | intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0143 | 1 | 166 | 0.0060 | -36 | c.489 others(57): Show |
DACH2 | ENSG00000126733.22 | transcript | ENST00000373125.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DACH2_chrX_86143451_86837602 | 86482538 | TTGGGTAT others(29): Show |
T | intron_variant | MODIFIER | HG02818.hp2 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0108 a0001c0001t0003g0094 |
2 | 166 | 0.0120 | -36 | c.528 others(55): Show |
DACH2 | ENSG00000126733.22 | transcript | ENST00000373125.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DACT2_chr6_168301904_168324777 | 168321835 | TCCTCTTC others(29): Show |
T | upstream_gene_variant | MODIFIER | HG02109.hp1 | a0004 | a0004c0006 | a0004c0006t0003 | a0004c0006t0003g0121 | 1 | 468 | 0.0021 | -36 | c.-22 others(47): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 2059 | chr6 | TogoVar | |||||||
DAGLB_chr7_6404129_6452954 | 6421307 | TCAGGCAG others(29): Show |
T | intron_variant | MODIFIER | HG00738.hp1 HG01074.hp1 HG01081.hp2 others(11): Show |
a0001a0002a0003 | a0001c0001a0002c0009a0003c0005 | a0001c0001t0003a0001c0001t0004a0002c0009t0003others(1): Show | a0001c0001t0003g0003 a0001c0001t0003g0217 a0001c0001t0003g0230 others(10): Show |
14 | 130 | 0.1077 | -36 | c.121 others(53): Show |
DAGLB | ENSG00000164535.15 | transcript | ENST00000297056.11 | protein_coding | 9/14 | chr7 | TogoVar | |||||||
DAPK1_chr9_87492867_87713634 | 87713048 | TGTGTGTG others(29): Show |
T | downstream_gene_variant | MODIFIER | HG02280.hp1 HG02922.hp1 HG02922.hp2 others(2): Show |
a0002a0003 | a0002c0003a0003c0007a0003c0027 | a0002c0003t0002a0002c0003t0006a0003c0007t0002others(1): Show | a0002c0003t0002g0035 a0002c0003t0002g0233 a0002c0003t0006g0045 others(2): Show |
5 | 234 | 0.0214 | -36 | c.*56 others(47): Show |
DAPK1 | ENSG00000196730.13 | transcript | ENST00000408954.8 | protein_coding | 4415 | chr9 | TogoVar | |||||||
DAPL1_chr2_158790317_158820990 | 158791925 | TTCTCTCT others(29): Show |
T | upstream_gene_variant | MODIFIER | HG02896.hp1 HG02896.hp2 HG02897.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0089 a0002c0002t0002g0027 |
3 | 282 | 0.0106 | -36 | c.-34 others(47): Show |
DAPL1 | ENSG00000163331.12 | transcript | ENST00000309950.8 | protein_coding | 3391 | chr2 | TogoVar | |||||||
DAP_chr5_10674230_10766234 | 10733172 | GTGTGTGT others(29): Show |
G | intron_variant | MODIFIER | HG02135.hp2 NA18941.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0098 a0001c0001t0002g0238 |
2 | 370 | 0.0054 | -36 | c.152 others(55): Show |
DAP | ENSG00000112977.16 | transcript | ENST00000230895.11 | protein_coding | 2/3 | chr5 | TogoVar | |||||||
DBH_chr9_133631363_133664329 | 133659859 | CTCTTCCC others(29): Show |
C | downstream_gene_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 400 | 0.0025 | -36 | c.*14 others(47): Show |
DBH | ENSG00000123454.12 | transcript | ENST00000393056.8 | protein_coding | 531 | chr9 | TogoVar | |||||||
DBNL_chr7_44039702_44074456 | 44043021 | GTATACAT others(29): Show |
G | upstream_gene_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 357 | 0.0028 | -36 | c.-17 others(47): Show |
DBNL | ENSG00000136279.21 | transcript | ENST00000448521.6 | protein_coding | 1680 | chr7 | TogoVar | |||||||
DBX2_chr12_45009672_45056099 | 45021849 | ATGATACT others(29): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(272): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(16): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(212): Show |
275 | 414 | 0.6643 | -36 | c.687 others(53): Show |
DBX2 | ENSG00000185610.6 | transcript | ENST00000332700.6 | protein_coding | 3/3 | chr12 | TogoVar | |||||||
DCAKD_chr17_45018344_45056632 | 45024304 | TGTGTGTG others(29): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02258.hp2 HG02280.hp2 HG02572.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0018 | a0001c0001t0010g0033 a0001c0001t0010g0213 a0001c0001t0010g0284 others(5): Show |
9 | 406 | 0.0222 | -36 | c.*93 others(44): Show |
DCAKD | ENSG00000172992.13 | transcript | ENST00000651974.1 | protein_coding | 5/5 | 93 | chr17 | TogoVar | ||||||
DCAKD_chr17_45018344_45056632 | 45051748 | TGGGCGGG others(29): Show |
T | upstream_gene_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 199 | 0.0050 | -36 | c.-53 others(45): Show |
DCAKD | ENSG00000172992.13 | transcript | ENST00000651974.1 | protein_coding | 117 | chr17 | TogoVar | |||||||
DCAKD_chr17_45018344_45056632 | 45051829 | GGGGCCGG others(29): Show |
G | upstream_gene_variant | MODIFIER | HG00621.hp2 HG02074.hp2 HG02155.hp1 others(9): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0038 others(9): Show |
12 | 404 | 0.0297 | -36 | c.-61 others(45): Show |
DCAKD | ENSG00000172992.13 | transcript | ENST00000651974.1 | protein_coding | 198 | chr17 | TogoVar | |||||||
DCC_chr18_52335197_53540899 | 52642026 | ATATATAT others(29): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG01261.hp1 HG02486.hp2 others(3): Show |
a0002a0003 | a0002c0001a0002c0004a0003c0006 | a0002c0001t0001a0002c0001t0002a0002c0004t0003others(1): Show | a0002c0001t0001g0053 a0002c0001t0001g0056 a0002c0001t0002g0018 others(3): Show |
6 | 114 | 0.0526 | -36 | c.92- others(55): Show |
DCC | ENSG00000187323.13 | transcript | ENST00000442544.7 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DCC_chr18_52335197_53540899 | 52927201 | GTATATGT others(29): Show |
G | intron_variant | MODIFIER | HG00738.hp2 HG01993.hp1 HG02080.hp2 others(8): Show |
a0002a0009 | a0002c0001a0002c0004a0009c0019 | a0002c0001t0001a0002c0001t0002a0002c0001t0005others(6): Show | a0002c0001t0001g0067 a0002c0001t0002g0017 a0002c0001t0005g0078 others(8): Show |
11 | 113 | 0.0973 | -36 | c.985 others(53): Show |
DCC | ENSG00000187323.13 | transcript | ENST00000442544.7 | protein_coding | 5/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DCC_chr18_52335197_53540899 | 53047276 | ATATATAT others(29): Show |
A | intron_variant | MODIFIER | HG00673.hp2 HG01106.hp1 HG01261.hp2 others(3): Show |
a0001a0003 | a0001c0003a0001c0008a0003c0006 | a0001c0003t0001a0001c0003t0004a0001c0003t0030others(2): Show | a0001c0003t0001g0058 a0001c0003t0004g0057 a0001c0003t0004g0092 others(3): Show |
6 | 109 | 0.0550 | -36 | c.986 others(55): Show |
DCC | ENSG00000187323.13 | transcript | ENST00000442544.7 | protein_coding | 5/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DCC_chr18_52335197_53540899 | 53047459 | ATATACCA others(29): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG00673.hp2 others(13): Show |
a0001a0003a0008 | a0001c0002a0001c0003a0001c0010others(2): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0005others(9): Show | a0001c0002t0002g0038 a0001c0002t0003g0059 a0001c0002t0005g0028 others(13): Show |
16 | 114 | 0.1404 | -36 | c.986 others(55): Show |
DCC | ENSG00000187323.13 | transcript | ENST00000442544.7 | protein_coding | 5/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DCC_chr18_52335197_53540899 | 53066351 | GTGTATAT others(29): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02080.hp2 HG02486.hp1 others(7): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0032others(6): Show | a0001c0002t0001g0094 a0001c0002t0001g0103 a0001c0002t0002g0005 others(7): Show |
10 | 108 | 0.0926 | -36 | c.126 others(53): Show |
DCC | ENSG00000187323.13 | transcript | ENST00000442544.7 | protein_coding | 7/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DCC_chr18_52335197_53540899 | 53086039 | TCTCCCTC others(29): Show |
T | intron_variant | MODIFIER | HG02080.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0055 | 1 | 106 | 0.0094 | -36 | c.126 others(57): Show |
DCC | ENSG00000187323.13 | transcript | ENST00000442544.7 | protein_coding | 7/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DCC_chr18_52335197_53540899 | 53086045 | TCTCCTTC others(29): Show |
T | intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0097 | 1 | 105 | 0.0095 | -36 | c.126 others(57): Show |
DCC | ENSG00000187323.13 | transcript | ENST00000442544.7 | protein_coding | 7/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DCC_chr18_52335197_53540899 | 53307891 | GTGTATGT others(29): Show |
G | intron_variant | MODIFIER | HG00738.hp2 HG01261.hp2 HG01346.hp2 others(15): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0008others(4): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(12): Show | a0001c0002t0001g0029 a0001c0002t0002g0038 a0001c0002t0005g0028 others(15): Show |
18 | 110 | 0.1636 | -36 | c.205 others(55): Show |
DCC | ENSG00000187323.13 | transcript | ENST00000442544.7 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DCC_chr18_52335197_53540899 | 53351407 | ATATATAT others(29): Show |
A | intron_variant | MODIFIER | HG00597.hp1 HG03831.hp1 HG04199.hp2 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0004 | a0001c0003t0001g0058 a0001c0003t0004g0052 a0001c0003t0004g0077 |
3 | 114 | 0.0263 | -36 | c.235 others(57): Show |
DCC | ENSG00000187323.13 | transcript | ENST00000442544.7 | protein_coding | 15/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DCLK1_chr13_35763652_36136382 | 35914330 | AAAATATA others(29): Show |
A | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0081 | 1 | 136 | 0.0074 | -36 | c.823 others(55): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 4/16 | chr13 | TogoVar | |||||||
DCST1_chr1_155028824_155055930 | 155048733 | CAGAAAAG others(29): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02486.hp2 HG02559.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0030 a0001c0001t0001g0144 others(2): Show |
9 | 304 | 0.0296 | -36 | c.186 others(53): Show |
DCST1 | ENSG00000163357.11 | transcript | ENST00000295542.6 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DCT_chr13_94431811_94484682 | 94465968 | TTATATAT others(29): Show |
T | intron_variant | MODIFIER | NA18995.hp2 NA19012.hp2 NA19070.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0005 |
3 | 39 | 0.0769 | -36 | c.697 others(51): Show |
DCT | ENSG00000080166.16 | transcript | ENST00000377028.10 | protein_coding | 3/7 | chr13 | TogoVar | |||||||
DCT_chr13_94431811_94484682 | 94472536 | ATATATAT others(29): Show |
A | intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 | 1 | 298 | 0.0034 | -36 | c.296 others(53): Show |
DCT | ENSG00000080166.16 | transcript | ENST00000377028.10 | protein_coding | 1/7 | chr13 | TogoVar | |||||||
DCT_chr13_94431811_94484682 | 94472538 | ATATATAT others(29): Show |
A | intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 330 | 0.0030 | -36 | c.296 others(53): Show |
DCT | ENSG00000080166.16 | transcript | ENST00000377028.10 | protein_coding | 1/7 | chr13 | TogoVar | |||||||
DDB1_chr11_61294451_61338105 | 61316942 | GATAGATA others(29): Show |
G | intron_variant | MODIFIER | HG02647.hp1 HG03927.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 a0001c0001t0001g0055 |
2 | 111 | 0.0180 | -36 | c.122 others(53): Show |
DDB1 | ENSG00000167986.15 | transcript | ENST00000301764.12 | protein_coding | 10/26 | chr11 | TogoVar | |||||||
DDX51_chr12_132131594_132149319 | 132134296 | CGTGAAGG others(29): Show |
C | downstream_gene_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 331 | 0.0030 | -36 | c.*49 others(47): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 2297 | chr12 | TogoVar | |||||||
DDX51_chr12_132131594_132149319 | 132134672 | CGCTCCTC others(29): Show |
C | downstream_gene_variant | MODIFIER | HG02257.hp1 | a0004 | a0004c0004 | a0004c0004t0006 | a0004c0004t0006g0030 | 1 | 330 | 0.0030 | -36 | c.*45 others(47): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 1921 | chr12 | TogoVar | |||||||
DDX51_chr12_132131594_132149319 | 132134707 | CGCTCCTC others(29): Show |
C | downstream_gene_variant | MODIFIER | HG01167.hp1 HG02976.hp2 HG03516.hp2 others(3): Show |
a0003a0004 | a0003c0003a0004c0004 | a0003c0003t0008a0004c0004t0006a0004c0004t0008 | a0003c0003t0008g0044 a0004c0004t0006g0030 a0004c0004t0008g0009 |
6 | 322 | 0.0186 | -36 | c.*45 others(47): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 1886 | chr12 | TogoVar | |||||||
DDX51_chr12_132131594_132149319 | 132134954 | GCTACCTC others(29): Show |
G | downstream_gene_variant | MODIFIER | HG02630.hp2 | a0003 | a0003c0006 | a0003c0006t0006 | a0003c0006t0006g0020 | 1 | 315 | 0.0032 | -36 | c.*42 others(47): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 1639 | chr12 | TogoVar | |||||||
DDX51_chr12_132131594_132149319 | 132136034 | CCGGTGCC others(29): Show |
C | downstream_gene_variant | MODIFIER | HG02735.hp2 HG04199.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0002 | 2 | 248 | 0.0081 | -36 | c.*32 others(47): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 559 | chr12 | TogoVar | |||||||
DDX51_chr12_132131594_132149319 | 132136269 | CCCCGAGT others(29): Show |
C | downstream_gene_variant | MODIFIER | HG02109.hp2 HG02257.hp1 HG03130.hp1 others(2): Show |
a0003a0004 | a0003c0006a0004c0004 | a0003c0006t0006a0004c0004t0006 | a0003c0006t0006g0015 a0004c0004t0006g0030 |
5 | 331 | 0.0151 | -36 | c.*29 others(47): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 324 | chr12 | TogoVar | |||||||
DDX51_chr12_132131594_132149319 | 132143818 | CGGCGCCT others(29): Show |
C | disruptive_inframe_deletion | MODERATE | HG00673.hp2 HG00741.hp1 HG01167.hp1 others(15): Show |
a0004a0006 | a0004c0004a0004c0012a0006c0008 | a0004c0004t0006a0004c0004t0008a0004c0004t0021others(4): Show | a0004c0004t0006g0030 a0004c0004t0008g0009 a0004c0004t0021g0075 others(4): Show |
18 | 332 | 0.0542 | -36 | c.360 others(43): Show |
p.Gly others(13): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 2/15 | 418/4702 | 360/2001 | 120/666 | chr12 | TogoVar | |||
DEAF1_chr11_639233_700222 | 647938 | ACCCAGGC others(29): Show |
A | intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0319 | 1 | 344 | 0.0029 | -36 | c.159 others(55): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 11/11 | chr11 | TogoVar | |||||||
DEFA1_chr8_6972649_6985092 | 6974207 | TTTTCTTT others(29): Show |
T | downstream_gene_variant | MODIFIER | HG03239.hp1 HG03704.hp1 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003 | a0002c0002t0002g0002 a0002c0002t0003g0014 |
2 | 31 | 0.0645 | -36 | c.*35 others(47): Show |
DEFA1 | ENSG00000206047.4 | transcript | ENST00000382692.3 | protein_coding | 3441 | chr8 | TogoVar | |||||||
DEFB134_chr8_11988174_12005752 | 12001928 | TTCTTTCT others(29): Show |
T | upstream_gene_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0037 | 2 | 446 | 0.0045 | -36 | c.-13 others(47): Show |
DEFB134 | ENSG00000205882.9 | transcript | ENST00000382205.6 | protein_coding | 1177 | chr8 | TogoVar | |||||||
DEPTOR_chr8_119868722_120055918 | 119991030 | TTTTCTTT others(29): Show |
T | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0003 | 1 | 158 | 0.0063 | -36 | c.605 others(55): Show |
DEPTOR | ENSG00000155792.10 | transcript | ENST00000286234.6 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DESI1_chr22_41593028_41626043 | 41594362 | GGGGTGGG others(29): Show |
G | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00597.hp2 others(58): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0009others(4): Show | a0001c0001t0003g0003 a0001c0001t0003g0013 a0001c0001t0003g0014 others(35): Show |
61 | 302 | 0.2020 | -36 | c.*66 others(47): Show |
DESI1 | ENSG00000100418.8 | transcript | ENST00000263256.7 | protein_coding | 3665 | chr22 | TogoVar | |||||||
DGKG_chr3_186142201_186367234 | 186302460 | CTATATAT others(29): Show |
C | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0168 | 1 | 191 | 0.0052 | -36 | c.145 others(53): Show |
DGKG | ENSG00000058866.15 | transcript | ENST00000265022.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
DGKG_chr3_186142201_186367234 | 186302476 | ATATATAT others(29): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp2 HG00609.hp1 others(82): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0003a0001c0009others(9): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(46): Show | a0001c0002t0001g0074 a0001c0002t0001g0088 a0001c0002t0002g0023 others(82): Show |
85 | 230 | 0.3696 | -36 | c.145 others(53): Show |
DGKG | ENSG00000058866.15 | transcript | ENST00000265022.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
DGKG_chr3_186142201_186367234 | 186302478 | ATATATAT others(29): Show |
A | intron_variant | MODIFIER | HG02572.hp1 HG02895.hp2 HG02896.hp2 others(5): Show |
a0001a0004a0005 | a0001c0002a0001c0003a0001c0018others(2): Show | a0001c0002t0003a0001c0002t0046a0001c0003t0045others(3): Show | a0001c0002t0003g0199 a0001c0002t0003g0200 a0001c0002t0046g0173 others(5): Show |
8 | 219 | 0.0365 | -36 | c.145 others(53): Show |
DGKG | ENSG00000058866.15 | transcript | ENST00000265022.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
DGKH_chr13_42043648_42247896 | 42049052 | CGGGAAGG others(29): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00558.hp2 others(29): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(24): Show | a0001c0001t0001g0299 a0001c0001t0002g0297 a0001c0001t0016g0286 others(29): Show |
32 | 54 | 0.5926 | -36 | c.192 others(51): Show |
DGKH | ENSG00000102780.17 | transcript | ENST00000337343.9 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |