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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DCPS_chr11_126299060_126355005 | 126324629 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00544.hp2 others(46): Show |
a0001a0004 | a0001c0002a0004c0012 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(11): Show | a0001c0002t0001g0002 a0001c0002t0001g0011 a0001c0002t0001g0022 others(40): Show |
49 | 176 | 0.2784 | -9 | c.377 others(26): Show |
DCPS | ENSG00000110063.10 | transcript | ENST00000263579.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
DCT_chr13_94431811_94484682 | 94472559 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG01071.hp2 HG01099.hp1 HG01346.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0013 a0001c0001t0003g0015 a0001c0001t0003g0025 others(3): Show |
7 | 333 | 0.0210 | -9 | c.296 others(26): Show |
DCT | ENSG00000080166.16 | transcript | ENST00000377028.10 | protein_coding | 1/7 | chr13 | TogoVar | |||||||
DCT_chr13_94431811_94484682 | 94472564 | ATATATTT others(2): Show |
A | intron_variant | MODIFIER | HG00673.hp1 HG00741.hp2 HG01074.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0017 a0001c0001t0001g0054 a0001c0001t0001g0074 others(5): Show |
8 | 316 | 0.0253 | -9 | c.296 others(26): Show |
DCT | ENSG00000080166.16 | transcript | ENST00000377028.10 | protein_coding | 1/7 | chr13 | TogoVar | |||||||
DCX_chrX_111288779_111417192 | 111414730 | CACACACA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG03942.hp1 NA18977.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 a0001c0001t0001g0146 |
2 | 181 | 0.0110 | -9 | c.-26 others(20): Show |
DCX | ENSG00000077279.21 | transcript | ENST00000636035.2 | protein_coding | 2539 | chrX | TogoVar | |||||||
DDHD1_chr14_53031755_53158323 | 53113390 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02895.hp2 HG02965.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0008a0002c0002t0028 | a0002c0002t0008g0269 a0002c0002t0008g0273 a0002c0002t0008g0275 others(4): Show |
7 | 35 | 0.2000 | -9 | c.839 others(26): Show |
DDHD1 | ENSG00000100523.17 | transcript | ENST00000673822.2 | protein_coding | 1/12 | chr14 | TogoVar | |||||||
DDHD1_chr14_53031755_53158323 | 53123115 | GTTATTAT others(2): Show |
G | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG00673.hp2 others(52): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0002c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0048 a0001c0001t0001g0055 a0001c0001t0001g0140 others(51): Show |
55 | 92 | 0.5978 | -9 | c.839 others(28): Show |
DDHD1 | ENSG00000100523.17 | transcript | ENST00000673822.2 | protein_coding | 1/12 | chr14 | TogoVar | |||||||
DDIAS_chr11_82896736_82939659 | 82898830 | ACTCAAAT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG03579.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0044 a0002c0002t0002g0199 |
3 | 366 | 0.0082 | -9 | c.-31 others(20): Show |
DDIAS | ENSG00000165490.13 | transcript | ENST00000533655.6 | protein_coding | 2905 | chr11 | TogoVar | |||||||
DDIAS_chr11_82896736_82939659 | 82910606 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp1 HG00558.hp1 others(68): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0002c0006others(3): Show | a0001c0001t0002a0002c0002t0002a0002c0006t0002others(3): Show | a0001c0001t0002g0024 a0002c0002t0002g0001 a0002c0002t0002g0004 others(34): Show |
71 | 236 | 0.3008 | -9 | c.-11 others(28): Show |
DDIAS | ENSG00000165490.13 | transcript | ENST00000533655.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
DDIAS_chr11_82896736_82939659 | 82928177 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp2 HG00733.hp1 others(24): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0002a0002c0002t0002a0003c0003t0001others(3): Show | a0001c0001t0002g0043 a0002c0002t0002g0023 a0002c0002t0002g0042 others(18): Show |
27 | 65 | 0.4154 | -9 | c.114 others(24): Show |
DDIAS | ENSG00000165490.13 | transcript | ENST00000533655.6 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
DDOST_chr1_20646777_20666369 | 20646992 | GCCTCCGC others(2): Show |
G | downstream_gene_variant | MODIFIER | NA18950.hp1 NA19006.hp2 NA19077.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 454 | 0.0066 | -9 | c.*53 others(20): Show |
DDOST | ENSG00000244038.11 | transcript | ENST00000602624.7 | protein_coding | 4784 | chr1 | TogoVar | |||||||
DDOST_chr1_20646777_20666369 | 20663035 | CTGGCCAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG02622.hp2 HG02895.hp2 HG03195.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 | 4 | 454 | 0.0088 | -9 | c.-16 others(20): Show |
DDOST | ENSG00000244038.11 | transcript | ENST00000602624.7 | protein_coding | 1667 | chr1 | TogoVar | |||||||
DDR2_chr1_162627464_162792405 | 162763336 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00544.hp2 others(105): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(22): Show | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0019 others(103): Show |
108 | 112 | 0.9643 | -9 | c.109 others(28): Show |
DDR2 | ENSG00000162733.19 | transcript | ENST00000367921.8 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DDR2_chr1_162627464_162792405 | 162788024 | TAAAAAAA others(2): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00423.hp1 others(78): Show |
a0001 | a0001c0002a0001c0003a0001c0006 | a0001c0002t0001a0001c0002t0009a0001c0002t0010others(13): Show | a0001c0002t0001g0015 a0001c0002t0001g0032 a0001c0002t0001g0039 others(78): Show |
81 | 147 | 0.5510 | -9 | c.*77 others(20): Show |
DDR2 | ENSG00000162733.19 | transcript | ENST00000367921.8 | protein_coding | 620 | chr1 | TogoVar | |||||||
DDX10_chr11_108660069_108945927 | 108911553 | CTTCTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00597.hp2 others(43): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(43): Show |
46 | 298 | 0.1544 | -9 | c.230 others(28): Show |
DDX10 | ENSG00000178105.12 | transcript | ENST00000322536.8 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
DDX19A_chr16_70341903_70378383 | 70357366 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG00597.hp2 HG00738.hp2 others(30): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0001 | a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0178 others(25): Show |
33 | 75 | 0.4400 | -9 | c.293 others(26): Show |
DDX19A | ENSG00000168872.17 | transcript | ENST00000302243.12 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DDX19B_chr16_70294186_70340305 | 70339393 | ATATATAT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG01433.hp2 HG02572.hp2 HG02723.hp1 others(1): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0003a0001c0002t0012a0001c0005t0001 | a0001c0002t0003g0024 a0001c0002t0012g0272 a0001c0005t0001g0288 |
4 | 308 | 0.0130 | -9 | c.*58 others(20): Show |
DDX19B | ENSG00000157349.17 | transcript | ENST00000288071.11 | protein_coding | 4089 | chr16 | TogoVar | |||||||
DDX23_chr12_48824756_48857163 | 48848585 | TTTGTTGT others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(126): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0002t0002a0001c0002t0008others(1): Show | a0001c0002t0001g0042 a0001c0002t0001g0158 a0001c0002t0001g0169 others(70): Show |
129 | 337 | 0.3828 | -9 | c.1-2 others(22): Show |
DDX23 | ENSG00000174243.11 | transcript | ENST00000308025.8 | protein_coding | 1/16 | chr12 | TogoVar | |||||||
DDX24_chr14_94043287_94086202 | 94053358 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00738.hp2 HG01169.hp2 others(5): Show |
a0001a0009 | a0001c0002a0009c0008 | a0001c0002t0002a0001c0002t0004a0009c0008t0006 | a0001c0002t0002g0001 a0001c0002t0002g0119 a0001c0002t0002g0133 others(3): Show |
8 | 132 | 0.0606 | -9 | c.217 others(26): Show |
DDX24 | ENSG00000089737.19 | transcript | ENST00000621632.5 | protein_coding | 7/8 | chr14 | TogoVar | |||||||
DDX39A_chr19_14403798_14424341 | 14414325 | TTTATTAT others(2): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02280.hp1 HG02280.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0050 others(4): Show |
11 | 123 | 0.0894 | -9 | c.-4- others(24): Show |
DDX39A | ENSG00000123136.15 | transcript | ENST00000242776.9 | protein_coding | 1/10 | chr19 | TogoVar | |||||||
DDX3X_chrX_41329162_41355274 | 41335422 | GCCAGAAT others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00544.hp2 others(66): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0007 a0001c0001t0002g0070 a0001c0001t0003g0002 others(21): Show |
69 | 299 | 0.2308 | -9 | c.45+ others(24): Show |
DDX3X | ENSG00000215301.11 | transcript | ENST00000644876.2 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DDX46_chr5_134753779_134836121 | 134755607 | AAATATAT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00558.hp2 HG01515.hp2 HG02886.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0030 | a0001c0001t0001g0037 a0001c0001t0001g0150 a0001c0001t0001g0174 others(6): Show |
9 | 334 | 0.0269 | -9 | c.-33 others(20): Show |
DDX46 | ENSG00000145833.16 | transcript | ENST00000452510.7 | protein_coding | 3171 | chr5 | TogoVar | |||||||
DDX46_chr5_134753779_134836121 | 134755609 | ATATATAT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG01243.hp2 HG02015.hp1 HG02630.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008 | a0001c0001t0001g0206 a0001c0001t0001g0295 a0001c0001t0002g0099 others(1): Show |
4 | 260 | 0.0154 | -9 | c.-33 others(20): Show |
DDX46 | ENSG00000145833.16 | transcript | ENST00000452510.7 | protein_coding | 3169 | chr5 | TogoVar | |||||||
DDX49_chr19_18914715_18933630 | 18917233 | CTTTTTTT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG01168.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0016 others(5): Show |
19 | 395 | 0.0481 | -9 | c.-25 others(20): Show |
DDX49 | ENSG00000105671.12 | transcript | ENST00000247003.9 | protein_coding | 2481 | chr19 | TogoVar | |||||||
DDX50_chr10_68896315_68951847 | 68936514 | AAATATAT others(2): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG01109.hp2 HG01515.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0098 a0001c0001t0001g0133 others(4): Show |
7 | 321 | 0.0218 | -9 | c.159 others(26): Show |
DDX50 | ENSG00000107625.14 | transcript | ENST00000373585.8 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DDX50_chr10_68896315_68951847 | 68936516 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG01081.hp2 HG01358.hp2 others(21): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0002 a0001c0001t0001g0091 a0001c0001t0001g0093 others(20): Show |
24 | 249 | 0.0964 | -9 | c.159 others(26): Show |
DDX50 | ENSG00000107625.14 | transcript | ENST00000373585.8 | protein_coding | 11/14 | chr10 | TogoVar | |||||||
DDX55_chr12_123597099_123625943 | 123610605 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG01346.hp2 HG01975.hp1 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0016a0001c0002t0020a0001c0002t0042others(3): Show | a0001c0002t0016g0010 a0001c0002t0016g0045 a0001c0002t0020g0129 others(5): Show |
9 | 188 | 0.0479 | -9 | c.741 others(24): Show |
DDX55 | ENSG00000111364.16 | transcript | ENST00000238146.9 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DECR1_chr8_89996477_90058633 | 90013399 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG01891.hp2 HG02615.hp2 HG02723.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0015 | a0001c0001t0001g0025 a0001c0001t0001g0062 a0001c0001t0001g0207 others(2): Show |
6 | 175 | 0.0343 | -9 | c.70- others(24): Show |
DECR1 | ENSG00000104325.7 | transcript | ENST00000220764.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DEFA1B_chr8_6991766_7004198 | 6993374 | CTTTCTTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00558.hp2 others(55): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 58 | 398 | 0.1457 | -9 | c.*35 others(20): Show |
DEFA1B | ENSG00000240247.8 | transcript | ENST00000382689.8 | protein_coding | 3391 | chr8 | TogoVar | |||||||
DEFB127_chr20_152454_164163 | 153787 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(351): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0012 others(15): Show |
354 | 395 | 0.8962 | -9 | c.-37 others(20): Show |
DEFB127 | ENSG00000088782.5 | transcript | ENST00000382388.4 | protein_coding | 3666 | chr20 | TogoVar | |||||||
DEFB130A_chr8_12305962_12323316 | 12308832 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00642.hp2 HG01071.hp2 HG01243.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0032 a0001c0001t0001g0033 others(5): Show |
13 | 245 | 0.0531 | -9 | c.*21 others(20): Show |
DEFB130A | ENSG00000232948.1 | transcript | ENST00000400079.1 | protein_coding | 2129 | chr8 | TogoVar | |||||||
DEFB134_chr8_11988174_12005752 | 12001882 | CTCTCTTT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG02015.hp1 HG02683.hp2 HG03239.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0002 a0001c0001t0003g0015 |
4 | 445 | 0.0090 | -9 | c.-12 others(20): Show |
DEFB134 | ENSG00000205882.9 | transcript | ENST00000382205.6 | protein_coding | 1131 | chr8 | TogoVar | |||||||
DEFB4A_chr8_7889677_7901716 | 7895024 | TTAGACTG others(2): Show |
T | intron_variant | MODIFIER | HG02572.hp1 HG02630.hp2 HG02683.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0003t0002a0001c0004t0001 | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0003t0002g0006 others(1): Show |
7 | 94 | 0.0745 | -9 | c.58+ others(22): Show |
DEFB4A | ENSG00000171711.3 | transcript | ENST00000302247.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DEK_chr6_18218860_18269530 | 18259394 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01169.hp1 HG01934.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(2): Show | a0001c0001t0001g0258 a0001c0001t0003g0017 a0001c0001t0003g0183 others(9): Show |
13 | 107 | 0.1215 | -9 | c.146 others(24): Show |
DEK | ENSG00000124795.17 | transcript | ENST00000652689.1 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
DENND10_chr10_119099113_119142984 | 119108490 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(125): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(11): Show | a0001c0001t0001g0006 a0001c0001t0001g0019 a0001c0001t0001g0162 others(98): Show |
128 | 372 | 0.3441 | -9 | c.252 others(24): Show |
DENND10 | ENSG00000119979.18 | transcript | ENST00000361432.3 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DENND10_chr10_119099113_119142984 | 119136245 | GGAGTGCA others(2): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(97): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0009others(6): Show | a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0008 others(72): Show |
100 | 372 | 0.2688 | -9 | c.898 others(24): Show |
DENND10 | ENSG00000119979.18 | transcript | ENST00000361432.3 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DENND1A_chr9_123374658_123935126 | 123639039 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG01099.hp1 HG02145.hp2 HG02559.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0019others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(2): Show | a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 others(5): Show |
8 | 65 | 0.1231 | -9 | c.619 others(26): Show |
DENND1A | ENSG00000119522.18 | transcript | ENST00000394215.7 | protein_coding | 9/23 | chr9 | TogoVar | |||||||
DENND1A_chr9_123374658_123935126 | 123859512 | AAGAATTT others(2): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG03041.hp2 |
a0001a0002 | a0001c0019a0002c0007 | a0001c0019t0001a0002c0007t0001 | a0001c0019t0001g0136 a0002c0007t0001g0135 |
2 | 160 | 0.0125 | -9 | c.88+ others(26): Show |
DENND1A | ENSG00000119522.18 | transcript | ENST00000394215.7 | protein_coding | 2/23 | chr9 | TogoVar | |||||||
DENND1A_chr9_123374658_123935126 | 123878706 | CCAATGAT others(2): Show |
C | intron_variant | MODIFIER | HG01168.hp2 HG01243.hp2 HG02109.hp2 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0011 a0001c0001t0001g0126 a0001c0001t0003g0124 others(19): Show |
22 | 160 | 0.1375 | -9 | c.88+ others(22): Show |
DENND1A | ENSG00000119522.18 | transcript | ENST00000394215.7 | protein_coding | 2/23 | chr9 | TogoVar | |||||||
DENND1B_chr1_197499748_197780480 | 197507149 | CATTATTA others(2): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02293.hp2 HG02647.hp1 HG03579.hp1 others(1): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0015a0004c0006t0043 | a0001c0001t0015g0271 a0001c0001t0015g0272 a0001c0001t0015g0273 others(1): Show |
4 | 6 | 0.6667 | -9 | c.*33 others(20): Show |
DENND1B | ENSG00000213047.13 | transcript | ENST00000620048.6 | protein_coding | 23/23 | 3302 | chr1 | TogoVar | ||||||
DENND2B_chr11_8688352_8815674 | 8799918 | TTTATTAT others(2): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00609.hp1 others(28): Show |
a0002a0003a0005 | a0002c0003a0003c0002a0005c0005 | a0002c0003t0001a0002c0003t0002a0002c0003t0007others(3): Show | a0002c0003t0001g0143 a0002c0003t0001g0203 a0002c0003t0001g0213 others(28): Show |
31 | 64 | 0.4844 | -9 | c.-26 others(28): Show |
DENND2B | ENSG00000166444.19 | transcript | ENST00000313726.11 | protein_coding | 1/19 | chr11 | TogoVar | |||||||
DENND2C_chr1_114577850_114675049 | 114627582 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(202): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0006a0001c0011others(11): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(47): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0077 others(193): Show |
205 | 274 | 0.7482 | -9 | c.-20 others(28): Show |
DENND2C | ENSG00000175984.16 | transcript | ENST00000393274.6 | protein_coding | 3/20 | chr1 | TogoVar | |||||||
DENND4A_chr15_65654123_65797293 | 65746369 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG00621.hp1 HG00642.hp2 others(69): Show |
a0001a0005a0009others(1): Show | a0001c0001a0001c0021a0005c0023others(2): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0016others(5): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(68): Show |
72 | 103 | 0.6990 | -9 | c.562 others(26): Show |
DENND4A | ENSG00000174485.16 | transcript | ENST00000443035.8 | protein_coding | 4/32 | chr15 | TogoVar | |||||||
DENND4B_chr1_153924501_153951718 | 153934802 | CCTGCTGC others(2): Show |
C | conservative_inframe_deletion | MODERATE | HG00423.hp2 HG00609.hp1 HG00621.hp1 others(118): Show |
a0002a0007 | a0002c0002a0002c0006a0002c0009others(3): Show | a0002c0002t0001a0002c0002t0005a0002c0002t0006others(5): Show | a0002c0002t0001g0002 a0002c0002t0001g0006 a0002c0002t0001g0007 others(39): Show |
121 | 322 | 0.3758 | -9 | c.272 others(18): Show |
p.Gln others(13): Show |
DENND4B | ENSG00000198837.10 | transcript | ENST00000361217.9 | protein_coding | 18/28 | 3171/5728 | 2722/4491 | 908/1496 | chr1 | TogoVar | |||
DENND4C_chr9_19225693_19379281 | 19322806 | ACAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG01081.hp1 HG01099.hp2 others(24): Show |
a0001a0004 | a0001c0002a0004c0005 | a0001c0002t0003a0001c0002t0005a0001c0002t0027others(5): Show | a0001c0002t0003g0043 a0001c0002t0003g0110 a0001c0002t0003g0111 others(24): Show |
27 | 290 | 0.0931 | -9 | c.180 others(28): Show |
DENND4C | ENSG00000137145.21 | transcript | ENST00000434457.7 | protein_coding | 12/32 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DENND5B_chr12_31377226_31596136 | 31564561 | CTATTATT others(2): Show |
C | intron_variant | MODIFIER | HG03486.hp1 HG03486.hp2 NA19079.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0009a0001c0001t0048a0002c0002t0001 | a0001c0001t0009g0121 a0001c0001t0048g0152 a0002c0002t0001g0074 others(1): Show |
4 | 65 | 0.0615 | -9 | c.127 others(28): Show |
DENND5B | ENSG00000170456.16 | transcript | ENST00000389082.10 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
DENND5B_chr12_31377226_31596136 | 31587526 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00558.hp1 others(87): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0012others(4): Show | a0001c0001t0005a0001c0001t0009a0001c0001t0011others(21): Show | a0001c0001t0005g0151 a0001c0001t0009g0118 a0001c0001t0009g0120 others(87): Show |
90 | 104 | 0.8654 | -9 | c.127 others(26): Show |
DENND5B | ENSG00000170456.16 | transcript | ENST00000389082.10 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
DEPDC1B_chr5_60591912_60705166 | 60653874 | CTTTATGT others(2): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG00673.hp2 HG01167.hp2 others(31): Show |
a0001a0006 | a0001c0001a0001c0003a0006c0005 | a0001c0001t0001a0001c0003t0001a0006c0005t0001 | a0001c0001t0001g0006 a0001c0001t0001g0143 a0001c0001t0001g0144 others(30): Show |
34 | 290 | 0.1172 | -9 | c.315 others(26): Show |
DEPDC1B | ENSG00000035499.13 | transcript | ENST00000265036.10 | protein_coding | 2/10 | chr5 | TogoVar | |||||||
DEPDC5_chr22_31749019_31913033 | 31873789 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01070.hp2 HG01081.hp1 HG01167.hp2 others(8): Show |
a0001 | a0001c0002a0001c0008 | a0001c0002t0003a0001c0008t0003 | a0001c0002t0003g0003 a0001c0002t0003g0177 a0001c0002t0003g0179 others(8): Show |
11 | 159 | 0.0692 | -9 | c.356 others(26): Show |
DEPDC5 | ENSG00000100150.20 | transcript | ENST00000651528.2 | protein_coding | 35/42 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
DEPDC7_chr11_33010878_33038582 | 33035266 | GCCTCTCC others(2): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(316): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(41): Show |
319 | 420 | 0.7595 | -9 | c.*18 others(20): Show |
DEPDC7 | ENSG00000121690.11 | transcript | ENST00000241051.8 | protein_coding | 1685 | chr11 | TogoVar | |||||||
DEPDC7_chr11_33010878_33038582 | 33036536 | TAAAAAAA others(2): Show |
T | downstream_gene_variant | MODIFIER | HG00621.hp2 HG02897.hp1 HG03516.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0010 others(2): Show |
7 | 177 | 0.0395 | -9 | c.*30 others(20): Show |
DEPDC7 | ENSG00000121690.11 | transcript | ENST00000241051.8 | protein_coding | 2955 | chr11 | TogoVar |