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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DEFA1_chr8_6972649_6985092 | 6974207 | T | TTTTCTTT others(30): Show |
downstream_gene_variant | MODIFIER | HG02451.hp2 HG02615.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0005 | 2 | 31 | 0.0645 | 37 | c.*35 others(48): Show |
DEFA1 | ENSG00000206047.4 | transcript | ENST00000382692.3 | protein_coding | 3441 | chr8 | TogoVar | |||||||
DEFB105A_chr8_7816004_7828880 | 7827033 | T | TATACTAG others(30): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 HG01169.hp2 HG01256.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006a0001c0001t0009 | a0001c0001t0005g0009 a0001c0001t0006g0006 a0001c0001t0009g0013 |
10 | 146 | 0.0685 | 37 | c.-31 others(48): Show |
DEFB105A | ENSG00000186562.8 | transcript | ENST00000334773.7 | protein_coding | 3154 | chr8 | TogoVar | |||||||
DEFB105A_chr8_7816004_7828880 | 7827275 | C | CATATAGT others(30): Show |
upstream_gene_variant | MODIFIER | HG00609.hp2 HG01243.hp1 HG01884.hp2 others(8): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0014a0003c0003t0004 | a0001c0001t0002g0008 a0001c0001t0014g0020 a0003c0003t0004g0005 others(1): Show |
11 | 105 | 0.1048 | 37 | c.-34 others(48): Show |
DEFB105A | ENSG00000186562.8 | transcript | ENST00000334773.7 | protein_coding | 3396 | chr8 | TogoVar | |||||||
DEFB105B_chr8_7482679_7494593 | 7484148 | A | ATAGTATA others(30): Show |
upstream_gene_variant | MODIFIER | NA18747.hp1 NA18747.hp2 NA18952.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 6 | 132 | 0.0455 | 37 | c.-35 others(48): Show |
DEFB105B | ENSG00000186599.8 | transcript | ENST00000335510.7 | protein_coding | 3530 | chr8 | TogoVar | |||||||
DEFB105B_chr8_7482679_7494593 | 7484172 | T | TTAGTGTA others(30): Show |
upstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 129 | 0.0078 | 37 | c.-35 others(48): Show |
DEFB105B | ENSG00000186599.8 | transcript | ENST00000335510.7 | protein_coding | 3506 | chr8 | TogoVar | |||||||
DEFB105B_chr8_7482679_7494593 | 7484423 | A | ACTATATA others(30): Show |
upstream_gene_variant | MODIFIER | HG00673.hp2 HG00741.hp1 HG01168.hp2 others(37): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0019 others(1): Show |
40 | 136 | 0.2941 | 37 | c.-32 others(48): Show |
DEFB105B | ENSG00000186599.8 | transcript | ENST00000335510.7 | protein_coding | 3255 | chr8 | TogoVar | |||||||
DEFB106A_chr8_7820139_7834053 | 7827033 | T | TATACTAG others(30): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01169.hp1 HG01256.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0056 a0001c0001t0001g0057 others(1): Show |
9 | 160 | 0.0563 | 37 | c.50- others(52): Show |
DEFB106A | ENSG00000186579.3 | transcript | ENST00000335186.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DEFB106A_chr8_7820139_7834053 | 7827275 | C | CATATAGT others(30): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01070.hp1 HG01243.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0005 a0001c0001t0001g0059 a0001c0001t0001g0061 others(5): Show |
17 | 110 | 0.1545 | 37 | c.50- others(52): Show |
DEFB106A | ENSG00000186579.3 | transcript | ENST00000335186.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DEFB106B_chr8_7477504_7491400 | 7484148 | A | ATAGTATA others(30): Show |
intron_variant | MODIFIER | HG02300.hp2 HG03490.hp1 HG03710.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0020 a0001c0001t0001g0040 |
6 | 176 | 0.0341 | 37 | c.50- others(52): Show |
DEFB106B | ENSG00000187082.2 | transcript | ENST00000335479.2 | protein_coding | 1/1 | chr8 | TogoVar | |||||||
DEFB106B_chr8_7477504_7491400 | 7484423 | A | ACTATATA others(30): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01243.hp1 HG01884.hp2 others(39): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 others(10): Show |
42 | 178 | 0.2360 | 37 | c.50- others(52): Show |
DEFB106B | ENSG00000187082.2 | transcript | ENST00000335479.2 | protein_coding | 1/1 | chr8 | TogoVar | |||||||
DENND1A_chr9_123374658_123935126 | 123456236 | A | ACACACAC others(30): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01070.hp1 HG01175.hp1 others(5): Show |
a0001a0003 | a0001c0003a0003c0011 | a0001c0003t0001a0001c0003t0009a0001c0003t0015others(1): Show | a0001c0003t0001g0096 a0001c0003t0001g0100 a0001c0003t0001g0119 others(5): Show |
8 | 160 | 0.0500 | 37 | c.118 others(56): Show |
DENND1A | ENSG00000119522.18 | transcript | ENST00000394215.7 | protein_coding | 15/23 | chr9 | TogoVar | |||||||
DENND4C_chr9_19225693_19379281 | 19238624 | T | TCCCCCTC others(30): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0143 | 1 | 272 | 0.0037 | 37 | c.-18 others(54): Show |
DENND4C | ENSG00000137145.21 | transcript | ENST00000434457.7 | protein_coding | 1/32 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DENND4C_chr9_19225693_19379281 | 19246135 | G | GTATGTAC others(30): Show |
intron_variant | MODIFIER | HG02630.hp1 HG03195.hp2 NA20129.hp2 |
a0008a0015 | a0008c0006a0015c0017 | a0008c0006t0015a0015c0017t0015 | a0008c0006t0015g0007 a0008c0006t0015g0009 a0015c0017t0015g0008 |
3 | 290 | 0.0103 | 37 | c.-18 others(56): Show |
DENND4C | ENSG00000137145.21 | transcript | ENST00000434457.7 | protein_coding | 1/32 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DENND5A_chr11_9133825_9270350 | 9199059 | A | AAAAAAAA others(30): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0088 | 1 | 180 | 0.0056 | 37 | c.949 others(54): Show |
DENND5A | ENSG00000184014.9 | transcript | ENST00000328194.8 | protein_coding | 4/22 | chr11 | TogoVar | |||||||
DENND5A_chr11_9133825_9270350 | 9199059 | A | AAAAAAAA others(30): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01517.hp1 HG02280.hp1 others(10): Show |
a0002a0007 | a0002c0002a0007c0012 | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(1): Show | a0002c0002t0001g0061 a0002c0002t0001g0070 a0002c0002t0001g0071 others(10): Show |
13 | 192 | 0.0677 | 37 | c.949 others(54): Show |
DENND5A | ENSG00000184014.9 | transcript | ENST00000328194.8 | protein_coding | 4/22 | chr11 | TogoVar | |||||||
DENND5A_chr11_9133825_9270350 | 9199059 | A | AAAAAAAA others(30): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03098.hp2 NA19043.hp2 |
a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0036 a0001c0004t0003g0082 a0001c0004t0003g0147 |
3 | 182 | 0.0165 | 37 | c.949 others(54): Show |
DENND5A | ENSG00000184014.9 | transcript | ENST00000328194.8 | protein_coding | 4/22 | chr11 | TogoVar | |||||||
DENND5A_chr11_9133825_9270350 | 9199059 | A | AAAAAAAA others(30): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0139 | 1 | 180 | 0.0056 | 37 | c.949 others(54): Show |
DENND5A | ENSG00000184014.9 | transcript | ENST00000328194.8 | protein_coding | 4/22 | chr11 | TogoVar | |||||||
DENND6B_chr22_50304030_50332012 | 50311259 | A | ATACAACC others(30): Show |
3_prime_UTR_variant | MODIFIER | HG01192.hp1 | a0002 | a0002c0002 | a0002c0002t0031 | a0002c0002t0031g0247 | 1 | 324 | 0.0031 | 37 | c.*84 others(46): Show |
DENND6B | ENSG00000205593.12 | transcript | ENST00000413817.8 | protein_coding | 20/20 | 879 | chr22 | TogoVar | ||||||
DENND6B_chr22_50304030_50332012 | 50312714 | C | CGGGGGGC others(30): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0279 | 1 | 321 | 0.0031 | 37 | c.145 others(53): Show |
DENND6B | ENSG00000205593.12 | transcript | ENST00000413817.8 | protein_coding | 17/19 | chr22 | TogoVar | |||||||
DENND6B_chr22_50304030_50332012 | 50312728 | G | GCTGACCC others(30): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0002 | a0002c0008 | a0002c0008t0039 | a0002c0008t0039g0235 | 1 | 324 | 0.0031 | 37 | c.145 others(54): Show |
DENND6B | ENSG00000205593.12 | transcript | ENST00000413817.8 | protein_coding | 17/19 | chr22 | TogoVar | |||||||
DEPDC1B_chr5_60591912_60705166 | 60602162 | G | GGAGGGAA others(30): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00673.hp2 HG01167.hp2 others(27): Show |
a0001a0006 | a0001c0001a0001c0003a0006c0005 | a0001c0001t0001a0001c0003t0001a0006c0005t0001 | a0001c0001t0001g0006 a0001c0001t0001g0143 a0001c0001t0001g0144 others(26): Show |
30 | 290 | 0.1034 | 37 | c.124 others(56): Show |
DEPDC1B | ENSG00000035499.13 | transcript | ENST00000265036.10 | protein_coding | 9/10 | chr5 | TogoVar | |||||||
DEPTOR_chr8_119868722_120055918 | 120002791 | A | AAAAATAT others(30): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0029 | 1 | 42 | 0.0238 | 37 | c.791 others(52): Show |
DEPTOR | ENSG00000155792.10 | transcript | ENST00000286234.6 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DGAT1_chr8_144309584_144331852 | 144313723 | G | GCGCCTCC others(30): Show |
downstream_gene_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0013 | 1 | 280 | 0.0036 | 37 | c.*28 others(48): Show |
DGAT1 | ENSG00000185000.12 | transcript | ENST00000528718.6 | protein_coding | 860 | chr8 | TogoVar | |||||||
DGAT1_chr8_144309584_144331852 | 144313795 | C | CTCCCCGC others(30): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0052 | 1 | 164 | 0.0061 | 37 | c.*27 others(48): Show |
DGAT1 | ENSG00000185000.12 | transcript | ENST00000528718.6 | protein_coding | 788 | chr8 | TogoVar | |||||||
DGCR6L_chr22_20309238_20325060 | 20322832 | T | TGTGTGTG others(30): Show |
upstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 | 1 | 35 | 0.0286 | 37 | c.-28 others(48): Show |
DGCR6L | ENSG00000128185.10 | transcript | ENST00000248879.8 | protein_coding | 2773 | chr22 | TogoVar | |||||||
DGCR6L_chr22_20309238_20325060 | 20322832 | T | TGTGTGTG others(30): Show |
upstream_gene_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 | 1 | 35 | 0.0286 | 37 | c.-28 others(48): Show |
DGCR6L | ENSG00000128185.10 | transcript | ENST00000248879.8 | protein_coding | 2773 | chr22 | TogoVar | |||||||
DGCR6L_chr22_20309238_20325060 | 20322832 | T | TGTGTGTG others(30): Show |
upstream_gene_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 35 | 0.0286 | 37 | c.-28 others(48): Show |
DGCR6L | ENSG00000128185.10 | transcript | ENST00000248879.8 | protein_coding | 2773 | chr22 | TogoVar | |||||||
DGCR6L_chr22_20309238_20325060 | 20322832 | T | TGTGTGTG others(30): Show |
upstream_gene_variant | MODIFIER | HG02818.hp1 NA18950.hp1 NA18967.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0002g0003 |
4 | 38 | 0.1053 | 37 | c.-28 others(48): Show |
DGCR6L | ENSG00000128185.10 | transcript | ENST00000248879.8 | protein_coding | 2773 | chr22 | TogoVar | |||||||
DGCR6L_chr22_20309238_20325060 | 20322832 | T | TGTGTGTG others(30): Show |
upstream_gene_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 35 | 0.0286 | 37 | c.-28 others(48): Show |
DGCR6L | ENSG00000128185.10 | transcript | ENST00000248879.8 | protein_coding | 2773 | chr22 | TogoVar | |||||||
DGKD_chr2_233349494_233477098 | 233397028 | C | CGAGAGGA others(30): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0128 | 1 | 259 | 0.0039 | 37 | c.348 others(54): Show |
DGKD | ENSG00000077044.11 | transcript | ENST00000264057.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DGKH_chr13_42043648_42247896 | 42159244 | C | CTTTTTTT others(30): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0222 | 1 | 15 | 0.0667 | 37 | c.623 others(48): Show |
DGKH | ENSG00000102780.17 | transcript | ENST00000337343.9 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
DGKK_chrX_50360409_50475825 | 50447331 | T | TATATATA others(30): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 229 | 0.0044 | 37 | c.645 others(56): Show |
DGKK | ENSG00000274588.2 | transcript | ENST00000611977.2 | protein_coding | 1/27 | chrX | TogoVar | |||||||
DHH_chr12_49081656_49099801 | 49098003 | G | GGGTCAGC others(30): Show |
upstream_gene_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 422 | 0.0024 | 37 | c.-34 others(48): Show |
DHH | ENSG00000139549.4 | transcript | ENST00000649637.2 | protein_coding | 3203 | chr12 | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2314352 | G | GGAGGGAG others(30): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0035 | 1 | 33 | 0.0303 | 37 | c.287 others(56): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | |||||||
DHX34_chr19_47344315_47387704 | 47377540 | G | GGAGGGTG others(30): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00639.hp2 others(38): Show |
a0001a0005a0006others(3): Show | a0001c0002a0005c0007a0006c0009others(3): Show | a0001c0002t0003a0001c0002t0005a0001c0002t0010others(7): Show | a0001c0002t0003g0019 a0001c0002t0003g0036 a0001c0002t0003g0037 others(34): Show |
41 | 380 | 0.1079 | 37 | c.270 others(54): Show |
DHX34 | ENSG00000134815.19 | transcript | ENST00000328771.9 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
DHX58_chr17_42096411_42117714 | 42106247 | A | AAAGGAAA others(30): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0088 | 1 | 350 | 0.0029 | 37 | c.998 others(52): Show |
DHX58 | ENSG00000108771.13 | transcript | ENST00000251642.8 | protein_coding | 8/13 | chr17 | TogoVar | |||||||
DIAPH1_chr5_141510021_141624000 | 141622367 | A | AGGCCAAG others(30): Show |
upstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0127 | 1 | 334 | 0.0030 | 37 | c.-34 others(48): Show |
DIAPH1 | ENSG00000131504.18 | transcript | ENST00000389054.8 | protein_coding | 3368 | chr5 | TogoVar | |||||||
DIAPH2_chrX_96679842_97609997 | 96939668 | A | ATTTTTTT others(30): Show |
intron_variant | MODIFIER | NA18961.hp1 NA18970.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008 | a0001c0001t0001g0009 a0001c0001t0002g0050 a0001c0001t0008g0040 |
3 | 106 | 0.0283 | 37 | c.132 others(54): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 12/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DIAPH3_chr13_59660583_60168928 | 59802667 | A | ATTATTTT others(30): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 26 | 0.0385 | 37 | c.316 others(56): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 25/27 | chr13 | TogoVar | |||||||
DIAPH3_chr13_59660583_60168928 | 60156939 | A | ATATATAT others(30): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0002 | a0002c0004 | a0002c0004t0005 | a0002c0004t0005g0051 | 1 | 98 | 0.0102 | 37 | c.180 others(54): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 1/27 | chr13 | TogoVar | |||||||
DIAPH3_chr13_59660583_60168928 | 60168760 | C | CAGTGGTG others(30): Show |
upstream_gene_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0131 | 1 | 206 | 0.0049 | 37 | c.-49 others(48): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 4833 | chr13 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 439367 | T | TCTTGCCC others(30): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01099.hp2 HG02280.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0003others(10): Show | a0001c0001t0002g0004 a0001c0001t0002g0025 a0001c0002t0001g0059 others(17): Show |
20 | 88 | 0.2273 | 37 | c.394 others(54): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 4/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 608696 | C | CCCCCCCC others(30): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 86 | 0.0116 | 37 | c.85+ others(54): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | |||||||
DIS3L_chr15_66288568_66338898 | 66309094 | A | AAAAAAAA others(30): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01496.hp2 HG04204.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 a0001c0001t0001g0277 a0001c0001t0001g0303 |
3 | 13 | 0.2308 | 37 | c.558 others(52): Show |
DIS3L | ENSG00000166938.13 | transcript | ENST00000319212.9 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
DIS3L_chr15_66288568_66338898 | 66309094 | A | AAAAAAAA others(30): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02074.hp1 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0004a0002c0002t0002 | a0001c0003t0004g0172 a0002c0002t0002g0256 |
2 | 12 | 0.1667 | 37 | c.558 others(52): Show |
DIS3L | ENSG00000166938.13 | transcript | ENST00000319212.9 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
DIS3L_chr15_66288568_66338898 | 66309094 | A | AAAAAAAA others(30): Show |
intron_variant | MODIFIER | HG00639.hp2 HG03098.hp1 HG03490.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0002 | a0001c0001t0005g0327 a0001c0001t0005g0332 a0002c0002t0002g0015 others(4): Show |
8 | 18 | 0.4444 | 37 | c.558 others(52): Show |
DIS3L | ENSG00000166938.13 | transcript | ENST00000319212.9 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
DIS3L_chr15_66288568_66338898 | 66309094 | A | AAAAAAAA others(30): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02615.hp2 NA18973.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0002c0002t0002 | a0001c0001t0001g0018 a0001c0001t0005g0018 a0001c0001t0005g0331 others(1): Show |
4 | 14 | 0.2857 | 37 | c.558 others(52): Show |
DIS3L | ENSG00000166938.13 | transcript | ENST00000319212.9 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
DIS3L_chr15_66288568_66338898 | 66309094 | A | AAAAATAT others(30): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0043 | 1 | 11 | 0.0909 | 37 | c.558 others(52): Show |
DIS3L | ENSG00000166938.13 | transcript | ENST00000319212.9 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
DKKL1_chr19_49358877_49380116 | 49371559 | A | ATGACTTA others(30): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01891.hp1 HG02055.hp1 others(15): Show |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0006 a0004c0004t0001g0117 a0004c0004t0001g0118 others(3): Show |
18 | 393 | 0.0458 | 37 | c.418 others(54): Show |
DKKL1 | ENSG00000104901.7 | transcript | ENST00000221498.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
DLAT_chr11_112020408_112069404 | 112067685 | A | AAAAAAAA others(30): Show |
downstream_gene_variant | MODIFIER | HG01261.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0280 | 1 | 81 | 0.0123 | 37 | c.*51 others(48): Show |
DLAT | ENSG00000150768.18 | transcript | ENST00000280346.11 | protein_coding | 3282 | chr11 | TogoVar |