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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DIAPH2_chrX_96679842_97609997 | 97300931 | T | TAAAAAAA | intron_variant | MODIFIER | HG00609.hp1 HG01358.hp1 HG01934.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0075 a0001c0001t0002g0041 a0001c0001t0002g0064 others(6): Show |
9 | 38 | 0.2368 | 7 | c.284 others(28): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DIAPH2_chrX_96679842_97609997 | 97334472 | A | AAAAAAAC | intron_variant | MODIFIER | HG00280.hp1 HG00609.hp1 HG00621.hp1 others(131): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0019 others(131): Show |
134 | 135 | 0.9926 | 7 | c.284 others(28): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DIAPH2_chrX_96679842_97609997 | 97486835 | T | TTAAATAC | intron_variant | MODIFIER | HG00280.hp1 HG01106.hp1 HG03017.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0013 | a0001c0001t0002g0012 a0001c0001t0010g0104 a0001c0001t0013g0013 |
3 | 147 | 0.0204 | 7 | c.324 others(28): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 26/26 | chrX | TogoVar | |||||||
DIAPH3_chr13_59660583_60168928 | 59762052 | C | CTTTTTTT | intron_variant | MODIFIER | HG00544.hp2 HG00609.hp2 NA18942.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 others(2): Show |
5 | 81 | 0.0617 | 7 | c.331 others(28): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 27/27 | chr13 | TogoVar | |||||||
DIAPH3_chr13_59660583_60168928 | 59802667 | A | ATTATTTT | intron_variant | MODIFIER | HG00639.hp1 HG01106.hp2 HG02071.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0087 a0001c0002t0001g0071 a0001c0002t0001g0083 others(13): Show |
16 | 41 | 0.3902 | 7 | c.316 others(26): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 25/27 | chr13 | TogoVar | |||||||
DIAPH3_chr13_59660583_60168928 | 59807219 | C | CATTCAGA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(198): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0005others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0034 a0001c0001t0001g0077 a0001c0001t0001g0078 others(198): Show |
201 | 206 | 0.9757 | 7 | c.316 others(26): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 25/27 | chr13 | TogoVar | |||||||
DIAPH3_chr13_59660583_60168928 | 60138785 | G | GGGGAAGA | intron_variant | MODIFIER | HG00621.hp1 HG01070.hp2 HG02040.hp1 others(17): Show |
a0001 | a0001c0001a0001c0006a0001c0010 | a0001c0001t0003a0001c0001t0004a0001c0001t0008others(4): Show | a0001c0001t0003g0008 a0001c0001t0003g0013 a0001c0001t0003g0016 others(17): Show |
20 | 72 | 0.2778 | 7 | c.181 others(24): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 1/27 | chr13 | TogoVar | |||||||
DIO1_chr1_53889187_53916086 | 53898744 | C | CAAAAAAA | intron_variant | MODIFIER | HG02559.hp1 HG02809.hp1 HG03139.hp1 others(5): Show |
a0001 | a0001c0002a0001c0011 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(1): Show | a0001c0002t0001g0125 a0001c0002t0001g0127 a0001c0002t0001g0129 others(5): Show |
8 | 103 | 0.0777 | 7 | c.337 others(24): Show |
DIO1 | ENSG00000211452.12 | transcript | ENST00000361921.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DIP2A_chr21_46453891_46575015 | 46461271 | C | CAAAAAAA | intron_variant | MODIFIER | HG01167.hp2 HG01257.hp2 HG01258.hp2 others(12): Show |
a0001 | a0001c0006a0001c0012a0001c0013others(2): Show | a0001c0006t0001a0001c0006t0004a0001c0006t0007others(5): Show | a0001c0006t0001g0178 a0001c0006t0001g0179 a0001c0006t0001g0180 others(12): Show |
15 | 96 | 0.1563 | 7 | c.91+ others(22): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DIP2A_chr21_46453891_46575015 | 46495242 | C | CTCTTCTT | intron_variant | MODIFIER | HG01168.hp1 HG01192.hp2 HG01257.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0002a0001c0002t0001a0001c0004t0001 | a0001c0001t0002g0156 a0001c0002t0001g0025 a0001c0002t0001g0036 others(8): Show |
11 | 362 | 0.0304 | 7 | c.284 others(24): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DIP2A_chr21_46453891_46575015 | 46506724 | T | TTTCTTTC | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00621.hp1 others(49): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0002a0001c0001t0013a0001c0001t0025others(12): Show | a0001c0001t0002g0028 a0001c0001t0002g0040 a0001c0001t0002g0198 others(49): Show |
52 | 252 | 0.2063 | 7 | c.784 others(24): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 6/37 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DIP2B_chr12_50499985_50753657 | 50501219 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00597.hp1 HG00642.hp2 HG00673.hp2 others(38): Show |
a0001a0005a0006 | a0001c0001a0005c0016a0006c0017 | a0001c0001t0001a0001c0001t0031a0001c0001t0035others(2): Show | a0001c0001t0001g0027 a0001c0001t0001g0115 a0001c0001t0001g0116 others(38): Show |
41 | 95 | 0.4316 | 7 | c.-39 others(18): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 3765 | chr12 | TogoVar | |||||||
DIP2B_chr12_50499985_50753657 | 50503256 | C | CTGGAATG | upstream_gene_variant | MODIFIER | HG02559.hp1 HG02717.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0007 a0001c0001t0007g0008 a0001c0001t0007g0009 |
3 | 282 | 0.0106 | 7 | c.-18 others(18): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1728 | chr12 | TogoVar | |||||||
DIP2B_chr12_50499985_50753657 | 50593784 | C | CCTCCCCT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG01074.hp2 others(25): Show |
a0001a0002a0007 | a0001c0001a0002c0005a0007c0019 | a0001c0001t0006a0001c0001t0010a0001c0001t0011others(15): Show | a0001c0001t0006g0077 a0001c0001t0010g0101 a0001c0001t0011g0078 others(25): Show |
28 | 62 | 0.4516 | 7 | c.101 others(26): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DIP2B_chr12_50499985_50753657 | 50716958 | C | CTTTTTTT | intron_variant | MODIFIER | HG00544.hp1 HG00738.hp1 HG01928.hp2 others(8): Show |
a0001a0007 | a0001c0001a0001c0003a0007c0019 | a0001c0001t0024a0001c0003t0002a0001c0003t0034others(1): Show | a0001c0001t0024g0091 a0001c0003t0002g0019 a0001c0003t0002g0021 others(8): Show |
11 | 24 | 0.4583 | 7 | c.285 others(26): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 23/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DIP2B_chr12_50499985_50753657 | 50730816 | C | CTCATTCT | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00621.hp1 others(52): Show |
a0001 | a0001c0003a0001c0011 | a0001c0003t0002a0001c0003t0033a0001c0003t0034others(2): Show | a0001c0003t0002g0012 a0001c0003t0002g0013 a0001c0003t0002g0014 others(52): Show |
55 | 282 | 0.1950 | 7 | c.364 others(24): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 30/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DIP2B_chr12_50499985_50753657 | 50751304 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00099.hp2 HG01074.hp2 HG01123.hp2 others(19): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0006a0001c0001t0010a0001c0001t0011others(14): Show | a0001c0001t0006g0077 a0001c0001t0010g0090 a0001c0001t0010g0101 others(19): Show |
22 | 76 | 0.2895 | 7 | c.*64 others(18): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 2648 | chr12 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 477453 | T | TAAAGGGA | intron_variant | MODIFIER | HG00673.hp1 HG02027.hp2 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0050 a0001c0003t0002g0060 |
2 | 32 | 0.0625 | 7 | c.158 others(24): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 477528 | G | GGGGAGGA | intron_variant | MODIFIER | HG00609.hp1 HG01934.hp1 HG01975.hp1 others(7): Show |
a0001 | a0001c0002a0001c0004a0001c0006others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(3): Show | a0001c0002t0001g0030 a0001c0002t0001g0052 a0001c0002t0001g0067 others(7): Show |
10 | 85 | 0.1176 | 7 | c.158 others(24): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 477568 | T | TGGGGGGA | intron_variant | MODIFIER | HG00621.hp1 HG00738.hp1 HG01081.hp1 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0024 others(28): Show |
31 | 53 | 0.5849 | 7 | c.158 others(24): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 478171 | G | GGGGAGAA | intron_variant | MODIFIER | HG02071.hp2 HG02155.hp2 HG02165.hp1 others(2): Show |
a0001 | a0001c0002a0001c0003a0001c0004 | a0001c0002t0001a0001c0002t0003a0001c0003t0002others(1): Show | a0001c0002t0001g0067 a0001c0002t0003g0029 a0001c0002t0003g0066 others(2): Show |
5 | 77 | 0.0649 | 7 | c.158 others(24): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 608521 | A | ACACACAT | intron_variant | MODIFIER | HG01081.hp2 HG02280.hp1 HG02717.hp1 others(4): Show |
a0001 | a0001c0002a0001c0005a0001c0007others(3): Show | a0001c0002t0003a0001c0005t0002a0001c0007t0002others(3): Show | a0001c0002t0003g0084 a0001c0005t0002g0006 a0001c0007t0002g0076 others(4): Show |
7 | 54 | 0.1296 | 7 | c.85+ others(24): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | |||||||
DIPK1A_chr1_92837167_92966462 | 92851542 | C | CAAAAAAA | intron_variant | MODIFIER | HG00408.hp1 HG01243.hp1 HG01257.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0057 a0001c0001t0001g0194 a0001c0001t0002g0008 others(16): Show |
19 | 48 | 0.3958 | 7 | c.190 others(22): Show |
DIPK1A | ENSG00000154511.12 | transcript | ENST00000370310.5 | protein_coding | 2/4 | chr1 | TogoVar | |||||||
DIPK1A_chr1_92837167_92966462 | 92922333 | C | CTTTTTTT | intron_variant | MODIFIER | HG00423.hp2 HG01109.hp2 HG02257.hp2 others(19): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0003others(2): Show | a0001c0001t0002g0028 a0001c0001t0002g0072 a0001c0001t0002g0079 others(19): Show |
22 | 146 | 0.1507 | 7 | c.54+ others(24): Show |
DIPK1A | ENSG00000154511.12 | transcript | ENST00000370310.5 | protein_coding | 1/4 | chr1 | TogoVar | |||||||
DIPK1A_chr1_92837167_92966462 | 92959903 | C | CTTTTTTT | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00558.hp2 others(34): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0151 others(34): Show |
37 | 50 | 0.7400 | 7 | c.54+ others(22): Show |
DIPK1A | ENSG00000154511.12 | transcript | ENST00000370310.5 | protein_coding | 1/4 | chr1 | TogoVar | |||||||
DIPK1C_chr18_74429775_74462308 | 74458940 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG03704.hp2 HG03927.hp1 NA18970.hp1 others(5): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0006others(2): Show | a0001c0001t0001a0002c0002t0002a0002c0006t0002others(3): Show | a0001c0001t0001g0039 a0001c0001t0001g0208 a0002c0002t0002g0211 others(4): Show |
8 | 418 | 0.0191 | 7 | c.-16 others(18): Show |
DIPK1C | ENSG00000187773.9 | transcript | ENST00000343998.8 | protein_coding | 1633 | chr18 | TogoVar | |||||||
DIRAS3_chr1_68040962_68055627 | 68048049 | A | AAAAATAT | intron_variant | MODIFIER | HG01261.hp1 HG02004.hp1 HG02135.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(2): Show |
7 | 55 | 0.1273 | 7 | c.-65 others(22): Show |
DIRAS3 | ENSG00000162595.8 | transcript | ENST00000646789.1 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
DIRAS3_chr1_68040962_68055627 | 68048049 | A | AAATATAT | intron_variant | MODIFIER | HG00733.hp2 HG01069.hp1 HG01071.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(1): Show |
10 | 58 | 0.1724 | 7 | c.-65 others(22): Show |
DIRAS3 | ENSG00000162595.8 | transcript | ENST00000646789.1 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
DIRAS3_chr1_68040962_68055627 | 68048049 | A | ATATATAT | intron_variant | MODIFIER | HG02683.hp2 HG02896.hp1 HG03492.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 |
8 | 56 | 0.1429 | 7 | c.-65 others(22): Show |
DIRAS3 | ENSG00000162595.8 | transcript | ENST00000646789.1 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
DIS3L2_chr2_231956713_232342192 | 232270874 | C | CTCTCTCT | intron_variant | MODIFIER | HG02602.hp2 NA18945.hp1 NA18965.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0263 a0001c0001t0001g0284 a0001c0001t0001g0294 |
3 | 291 | 0.0103 | 7 | c.165 others(26): Show |
DIS3L2 | ENSG00000144535.20 | transcript | ENST00000325385.12 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DIS3L2_chr2_231956713_232342192 | 232318128 | A | ACAGAGGC | intron_variant | MODIFIER | HG01891.hp2 HG02145.hp1 HG02258.hp2 others(14): Show |
a0001a0002 | a0001c0001a0002c0004a0002c0011 | a0001c0001t0001a0001c0001t0004a0002c0004t0001others(1): Show | a0001c0001t0001g0193 a0001c0001t0001g0203 a0001c0001t0001g0204 others(14): Show |
17 | 302 | 0.0563 | 7 | c.174 others(28): Show |
DIS3L2 | ENSG00000144535.20 | transcript | ENST00000325385.12 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DISP1_chr1_222810039_223010995 | 222814909 | T | TCGCCCGC | upstream_gene_variant | MODIFIER | HG02135.hp1 HG02258.hp1 HG03516.hp2 |
a0001a0004a0008 | a0001c0005a0004c0010a0008c0017 | a0001c0005t0001a0004c0010t0001a0008c0017t0001 | a0001c0005t0001g0079 a0004c0010t0001g0216 a0008c0017t0001g0215 |
3 | 73 | 0.0411 | 7 | c.-32 others(16): Show |
DISP1 | ENSG00000154309.9 | transcript | ENST00000675850.1 | protein_coding | 129 | chr1 | TogoVar | |||||||
DISP1_chr1_222810039_223010995 | 222937769 | C | CAAGCCAA | intron_variant | MODIFIER | NA18969.hp1 NA19005.hp1 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0262 |
3 | 346 | 0.0087 | 7 | c.-17 others(24): Show |
DISP1 | ENSG00000154309.9 | transcript | ENST00000675850.1 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DISP1_chr1_222810039_223010995 | 222938760 | A | AAGGAAGG | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG00642.hp1 others(53): Show |
a0001a0002a0007others(5): Show | a0001c0005a0001c0006a0001c0007others(10): Show | a0001c0005t0001a0001c0006t0001a0001c0007t0001others(11): Show | a0001c0005t0001g0076 a0001c0006t0001g0217 a0001c0007t0001g0099 others(51): Show |
56 | 287 | 0.1951 | 7 | c.-17 others(24): Show |
DISP1 | ENSG00000154309.9 | transcript | ENST00000675850.1 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DISP1_chr1_222810039_223010995 | 222969370 | C | CAAAAAAA | intron_variant | MODIFIER | HG00280.hp2 HG00738.hp1 HG02523.hp2 others(10): Show |
a0001a0003a0005others(3): Show | a0001c0001a0001c0002a0003c0008others(4): Show | a0001c0001t0001a0001c0002t0001a0003c0008t0001others(4): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0101 others(10): Show |
13 | 24 | 0.5417 | 7 | c.510 others(26): Show |
DISP1 | ENSG00000154309.9 | transcript | ENST00000675850.1 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DISP1_chr1_222810039_223010995 | 222984417 | A | ATATATAT | intron_variant | MODIFIER | HG00558.hp1 HG00597.hp1 HG01175.hp2 others(21): Show |
a0001a0002a0024 | a0001c0002a0001c0005a0001c0023others(3): Show | a0001c0002t0001a0001c0005t0001a0001c0023t0001others(3): Show | a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0303 others(21): Show |
24 | 246 | 0.0976 | 7 | c.539 others(24): Show |
DISP1 | ENSG00000154309.9 | transcript | ENST00000675850.1 | protein_coding | 4/8 | chr1 | TogoVar | |||||||
DISP1_chr1_222810039_223010995 | 222984419 | A | ATATATAT | intron_variant | MODIFIER | HG00621.hp1 HG01934.hp2 HG02004.hp2 others(8): Show |
a0001a0002a0003 | a0001c0005a0001c0007a0002c0003others(1): Show | a0001c0005t0001a0001c0007t0001a0002c0003t0001others(1): Show | a0001c0005t0001g0036 a0001c0005t0001g0233 a0001c0005t0001g0267 others(8): Show |
11 | 154 | 0.0714 | 7 | c.539 others(24): Show |
DISP1 | ENSG00000154309.9 | transcript | ENST00000675850.1 | protein_coding | 4/8 | chr1 | TogoVar | |||||||
DISP1_chr1_222810039_223010995 | 222992864 | A | ATTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00558.hp1 others(112): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0005others(21): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(22): Show | a0001c0001t0001g0003 a0001c0001t0001g0048 a0001c0001t0001g0050 others(112): Show |
115 | 133 | 0.8647 | 7 | c.889 others(22): Show |
DISP1 | ENSG00000154309.9 | transcript | ENST00000675850.1 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DIXDC1_chr11_111932343_112027653 | 111937127 | C | CGGGGGGG | upstream_gene_variant | MODIFIER | HG00544.hp2 HG00621.hp2 HG01099.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0002g0006 a0001c0001t0002g0176 a0001c0001t0002g0180 others(18): Show |
21 | 149 | 0.1409 | 7 | c.-37 others(16): Show |
DIXDC1 | ENSG00000150764.14 | transcript | ENST00000440460.7 | protein_coding | 215 | chr11 | TogoVar | |||||||
DLC1_chr8_13078361_13519851 | 13152821 | G | GTAGAAAA | intron_variant | MODIFIER | HG02109.hp2 HG02559.hp1 NA20300.hp1 |
a0001a0002 | a0001c0001a0001c0011a0002c0006 | a0001c0001t0042a0001c0011t0003a0002c0006t0035 | a0001c0001t0042g0042 a0001c0011t0003g0050 a0002c0006t0035g0016 |
3 | 210 | 0.0143 | 7 | c.134 others(28): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 5/17 | chr8 | TogoVar | |||||||
DLC1_chr8_13078361_13519851 | 13188419 | C | CAAAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG00735.hp2 HG01167.hp1 others(9): Show |
a0001a0002a0008others(3): Show | a0001c0001a0001c0011a0002c0006others(4): Show | a0001c0001t0001a0001c0001t0042a0001c0001t0053others(7): Show | a0001c0001t0001g0072 a0001c0001t0001g0101 a0001c0001t0042g0042 others(9): Show |
12 | 55 | 0.2182 | 7 | c.134 others(28): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 5/17 | chr8 | TogoVar | |||||||
DLC1_chr8_13078361_13519851 | 13319819 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(77): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0004a0001c0011others(23): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(40): Show | a0001c0001t0001g0059 a0001c0001t0001g0069 a0001c0001t0001g0091 others(77): Show |
80 | 125 | 0.6400 | 7 | c.131 others(28): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 4/17 | chr8 | TogoVar | |||||||
DLC1_chr8_13078361_13519851 | 13345547 | C | CTTTTTTT | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG00735.hp2 others(24): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0002c0002others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0004t0003others(14): Show | a0001c0001t0001g0059 a0001c0001t0003g0023 a0001c0001t0003g0074 others(24): Show |
27 | 33 | 0.8182 | 7 | c.131 others(28): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 4/17 | chr8 | TogoVar | |||||||
DLC1_chr8_13078361_13519851 | 13382529 | A | AAAGAAAG | intron_variant | MODIFIER | HG00280.hp2 HG01109.hp1 HG01516.hp2 others(9): Show |
a0001a0003a0004others(4): Show | a0001c0001a0003c0003a0003c0029others(6): Show | a0001c0001t0001a0001c0001t0012a0003c0003t0006others(8): Show | a0001c0001t0001g0069 a0001c0001t0001g0100 a0001c0001t0012g0207 others(9): Show |
12 | 114 | 0.1053 | 7 | c.131 others(28): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 4/17 | chr8 | TogoVar | |||||||
DLC1_chr8_13078361_13519851 | 13468811 | C | CTTTTTTT | intron_variant | MODIFIER | HG00558.hp2 HG02080.hp1 HG02165.hp2 others(8): Show |
a0004a0005 | a0004c0005a0005c0008a0005c0012 | a0004c0005t0002a0004c0005t0033a0005c0008t0001others(2): Show | a0004c0005t0002g0167 a0004c0005t0002g0174 a0004c0005t0002g0176 others(8): Show |
11 | 28 | 0.3929 | 7 | c.102 others(28): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 2/17 | chr8 | TogoVar | |||||||
DLG1_chr3_197037560_197303612 | 197038137 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00544.hp1 HG00621.hp1 HG01070.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0006a0002c0002t0003 | a0001c0001t0002g0127 a0001c0001t0002g0145 a0001c0001t0002g0149 others(10): Show |
13 | 45 | 0.2889 | 7 | c.*64 others(18): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 4422 | chr3 | TogoVar | |||||||
DLG1_chr3_197037560_197303612 | 197127453 | A | ATATATAT | intron_variant | MODIFIER | HG01074.hp1 HG01123.hp1 HG01943.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0002g0160 others(1): Show |
4 | 269 | 0.0149 | 7 | c.116 others(26): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 11/24 | chr3 | TogoVar | |||||||
DLG1_chr3_197037560_197303612 | 197158634 | C | CAAAAAAA | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00609.hp2 others(21): Show |
a0001a0004a0006others(1): Show | a0001c0001a0004c0007a0006c0011others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0040 others(21): Show |
24 | 117 | 0.2051 | 7 | c.484 others(24): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 5/24 | chr3 | TogoVar | |||||||
DLG1_chr3_197037560_197303612 | 197273849 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(154): Show |
a0001a0003a0006others(4): Show | a0001c0001a0001c0003a0003c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 others(154): Show |
157 | 191 | 0.8220 | 7 | c.318 others(24): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 4/24 | chr3 | TogoVar | |||||||
DLG2_chr11_83450173_85632344 | 83753826 | T | TATATATG | intron_variant | MODIFIER | HG01884.hp1 HG02717.hp2 HG03471.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0010 a0001c0001t0002g0001 a0001c0001t0003g0003 others(2): Show |
5 | 9 | 0.5556 | 7 | c.182 others(28): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 18/27 | chr11 | TogoVar |