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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DACH2_chrX_86143451_86837602 | 86502035 | C | CTTCCTTC others(17): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02572.hp1 HG03041.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0024 a0001c0001t0001g0113 others(3): Show |
6 | 165 | 0.0364 | 24 | c.528 others(43): Show |
DACH2 | ENSG00000126733.22 | transcript | ENST00000373125.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DACH2_chrX_86143451_86837602 | 86533037 | T | TTTTATTT others(17): Show |
intron_variant | MODIFIER | HG02080.hp1 HG03017.hp1 NA18990.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0100 a0001c0001t0001g0153 |
3 | 164 | 0.0183 | 24 | c.640 others(43): Show |
DACH2 | ENSG00000126733.22 | transcript | ENST00000373125.9 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DACH2_chrX_86143451_86837602 | 86546357 | C | CTCTTCTT others(17): Show |
intron_variant | MODIFIER | HG01515.hp1 HG02074.hp1 HG02735.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0022 a0001c0001t0001g0048 a0001c0001t0001g0055 others(11): Show |
14 | 29 | 0.4828 | 24 | c.640 others(43): Show |
DACH2 | ENSG00000126733.22 | transcript | ENST00000373125.9 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DACH2_chrX_86143451_86837602 | 86599466 | T | TTTTCTTT others(17): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02129.hp1 HG02615.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0142 others(6): Show |
9 | 18 | 0.5000 | 24 | c.641 others(43): Show |
DACH2 | ENSG00000126733.22 | transcript | ENST00000373125.9 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DACH2_chrX_86143451_86837602 | 86667305 | A | AGAAGGAA others(17): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0164 | 1 | 40 | 0.0250 | 24 | c.772 others(43): Show |
DACH2 | ENSG00000126733.22 | transcript | ENST00000373125.9 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DACH2_chrX_86143451_86837602 | 86707912 | T | TAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00673.hp1 HG02056.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0014 a0001c0001t0001g0043 a0001c0001t0001g0049 others(8): Show |
11 | 56 | 0.1964 | 24 | c.932 others(41): Show |
DACH2 | ENSG00000126733.22 | transcript | ENST00000373125.9 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DACT2_chr6_168301904_168324777 | 168310570 | G | GGACTTAT others(17): Show |
intron_variant | MODIFIER | NA19077.hp2 | a0025 | a0025c0028 | a0025c0028t0002 | a0025c0028t0002g0155 | 1 | 474 | 0.0021 | 24 | c.380 others(39): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 2/3 | chr6 | TogoVar | |||||||
DACT2_chr6_168301904_168324777 | 168311594 | A | ACACTCAC others(17): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0253 | 1 | 356 | 0.0028 | 24 | c.247 others(39): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
DACT3_chr19_46642551_46666182 | 46653539 | T | TTTTATTT others(17): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02572.hp1 NA18948.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 a0001c0001t0001g0130 |
3 | 139 | 0.0216 | 24 | c.250 others(39): Show |
DACT3 | ENSG00000197380.11 | transcript | ENST00000391916.7 | protein_coding | 1/3 | chr19 | TogoVar | |||||||
DAG1_chr3_49465267_49540615 | 49528275 | A | ATTTTTTT others(17): Show |
intron_variant | MODIFIER | HG01891.hp1 HG01934.hp2 HG02970.hp1 |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0002a0003c0004t0002 | a0001c0002t0002g0082 a0003c0004t0002g0075 a0003c0004t0002g0081 |
3 | 7 | 0.4286 | 24 | c.286 others(41): Show |
DAG1 | ENSG00000173402.13 | transcript | ENST00000308775.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DAGLB_chr7_6404129_6452954 | 6430250 | C | CATATACA others(17): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0311 | 1 | 89 | 0.0112 | 24 | c.929 others(39): Show |
DAGLB | ENSG00000164535.15 | transcript | ENST00000297056.11 | protein_coding | 6/14 | chr7 | TogoVar | |||||||
DAGLB_chr7_6404129_6452954 | 6430250 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG01943.hp2 HG02015.hp1 HG02630.hp2 others(7): Show |
a0001a0002a0003 | a0001c0002a0002c0003a0003c0005 | a0001c0002t0002a0002c0003t0001a0003c0005t0001 | a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0094 others(7): Show |
10 | 98 | 0.1020 | 24 | c.929 others(39): Show |
DAGLB | ENSG00000164535.15 | transcript | ENST00000297056.11 | protein_coding | 6/14 | chr7 | TogoVar | |||||||
DAOA_chr13_105461045_105496034 | 105493422 | C | CTCTCTCT others(17): Show |
downstream_gene_variant | MODIFIER | NA18960.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 135 | 0.0074 | 24 | c.*26 others(35): Show |
DAOA | ENSG00000182346.22 | transcript | ENST00000375936.9 | protein_coding | 2389 | chr13 | TogoVar | |||||||
DAOA_chr13_105461045_105496034 | 105493422 | C | CTCTCTCT others(17): Show |
downstream_gene_variant | MODIFIER | HG00558.hp1 NA18946.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 a0002c0002t0001g0246 |
2 | 136 | 0.0147 | 24 | c.*26 others(35): Show |
DAOA | ENSG00000182346.22 | transcript | ENST00000375936.9 | protein_coding | 2389 | chr13 | TogoVar | |||||||
DAOA_chr13_105461045_105496034 | 105493422 | C | CTCTCTCT others(17): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 NA18948.hp2 NA18992.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001 a0002c0002t0001g0001 a0002c0002t0001g0002 others(2): Show |
5 | 139 | 0.0360 | 24 | c.*26 others(35): Show |
DAOA | ENSG00000182346.22 | transcript | ENST00000375936.9 | protein_coding | 2389 | chr13 | TogoVar | |||||||
DAOA_chr13_105461045_105496034 | 105493422 | C | CTCTCTCT others(17): Show |
downstream_gene_variant | MODIFIER | HG02698.hp1 HG03688.hp1 HG04115.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0047 a0001c0001t0001g0058 a0002c0002t0001g0001 others(3): Show |
6 | 140 | 0.0429 | 24 | c.*26 others(35): Show |
DAOA | ENSG00000182346.22 | transcript | ENST00000375936.9 | protein_coding | 2389 | chr13 | TogoVar | |||||||
DAOA_chr13_105461045_105496034 | 105493422 | C | CTCTCTCT others(17): Show |
downstream_gene_variant | MODIFIER | HG02135.hp1 HG04199.hp1 NA18940.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0204 a0002c0002t0001g0001 a0002c0002t0001g0013 |
3 | 137 | 0.0219 | 24 | c.*26 others(35): Show |
DAOA | ENSG00000182346.22 | transcript | ENST00000375936.9 | protein_coding | 2389 | chr13 | TogoVar | |||||||
DAOA_chr13_105461045_105496034 | 105493422 | C | CTCTCTCT others(17): Show |
downstream_gene_variant | MODIFIER | HG03491.hp2 NA18984.hp1 NA18998.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0001 | a0001c0001t0001g0207 a0001c0001t0003g0021 a0002c0002t0001g0001 others(1): Show |
4 | 138 | 0.0290 | 24 | c.*26 others(35): Show |
DAOA | ENSG00000182346.22 | transcript | ENST00000375936.9 | protein_coding | 2389 | chr13 | TogoVar | |||||||
DAOA_chr13_105461045_105496034 | 105493422 | C | CTCTCTCT others(17): Show |
downstream_gene_variant | MODIFIER | NA18988.hp1 NA19012.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0038 a0002c0002t0001g0194 |
2 | 136 | 0.0147 | 24 | c.*26 others(35): Show |
DAOA | ENSG00000182346.22 | transcript | ENST00000375936.9 | protein_coding | 2389 | chr13 | TogoVar | |||||||
DAOA_chr13_105461045_105496034 | 105493422 | C | CTCTCTCT others(17): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG02135.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 a0002c0002t0001g0243 |
2 | 136 | 0.0147 | 24 | c.*26 others(35): Show |
DAOA | ENSG00000182346.22 | transcript | ENST00000375936.9 | protein_coding | 2389 | chr13 | TogoVar | |||||||
DAO_chr12_108875092_108906043 | 108903287 | G | GAGAAAGG others(17): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 HG00733.hp2 HG00735.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0037 a0001c0001t0001g0118 a0001c0001t0001g0123 others(14): Show |
19 | 157 | 0.1210 | 24 | c.*27 others(35): Show |
DAO | ENSG00000110887.8 | transcript | ENST00000228476.8 | protein_coding | 2245 | chr12 | TogoVar | |||||||
DAO_chr12_108875092_108906043 | 108903287 | G | GAGGAAGG others(17): Show |
downstream_gene_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG02615.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0086 a0001c0001t0003g0095 a0001c0001t0003g0096 others(1): Show |
4 | 142 | 0.0282 | 24 | c.*27 others(35): Show |
DAO | ENSG00000110887.8 | transcript | ENST00000228476.8 | protein_coding | 2245 | chr12 | TogoVar | |||||||
DAP3_chr1_155684091_155744010 | 155738972 | A | AAAATAAA others(17): Show |
3_prime_UTR_variant | MODIFIER | HG00741.hp2 HG01074.hp1 HG02129.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0016 | a0001c0001t0009g0004 a0001c0001t0009g0008 a0001c0001t0009g0116 others(7): Show |
11 | 137 | 0.0803 | 24 | c.*74 others(33): Show |
DAP3 | ENSG00000132676.16 | transcript | ENST00000368336.10 | protein_coding | 13/13 | 765 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DAPK1_chr9_87492867_87713634 | 87632904 | G | GTATATAT others(17): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03041.hp2 NA19240.hp2 |
a0001a0004 | a0001c0010a0004c0013a0004c0018 | a0001c0010t0001a0004c0013t0001a0004c0018t0001 | a0001c0010t0001g0231 a0004c0013t0001g0223 a0004c0018t0001g0110 |
3 | 112 | 0.0268 | 24 | c.285 others(41): Show |
DAPK1 | ENSG00000196730.13 | transcript | ENST00000408954.8 | protein_coding | 3/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DAPK1_chr9_87492867_87713634 | 87662560 | G | GTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG00609.hp1 NA18948.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 a0001c0001t0001g0141 |
2 | 53 | 0.0377 | 24 | c.192 others(43): Show |
DAPK1 | ENSG00000196730.13 | transcript | ENST00000408954.8 | protein_coding | 18/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DAPK2_chr15_63902036_64051485 | 64033287 | G | GGGAAGGA others(17): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00621.hp2 HG01978.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0006a0001c0001t0030others(1): Show | a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0079 others(10): Show |
13 | 119 | 0.1092 | 24 | c.92+ others(39): Show |
DAPK2 | ENSG00000035664.11 | transcript | ENST00000457488.6 | protein_coding | 2/11 | chr15 | TogoVar | |||||||
DAPK2_chr15_63902036_64051485 | 64036324 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 205 | 0.0049 | 24 | c.92+ others(39): Show |
DAPK2 | ENSG00000035664.11 | transcript | ENST00000457488.6 | protein_coding | 2/11 | chr15 | TogoVar | |||||||
DAPK3_chr19_3953453_3976099 | 3953637 | A | AGGGGGGC others(17): Show |
downstream_gene_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 283 | 0.0035 | 24 | c.*54 others(35): Show |
DAPK3 | ENSG00000167657.14 | transcript | ENST00000545797.7 | protein_coding | 4815 | chr19 | TogoVar | |||||||
DAPK3_chr19_3953453_3976099 | 3953644 | C | CGGGGGGG others(17): Show |
downstream_gene_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 332 | 0.0030 | 24 | c.*54 others(35): Show |
DAPK3 | ENSG00000167657.14 | transcript | ENST00000545797.7 | protein_coding | 4808 | chr19 | TogoVar | |||||||
DAPK3_chr19_3953453_3976099 | 3953645 | G | GGGGGGGG others(17): Show |
downstream_gene_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 251 | 0.0040 | 24 | c.*54 others(35): Show |
DAPK3 | ENSG00000167657.14 | transcript | ENST00000545797.7 | protein_coding | 4807 | chr19 | TogoVar | |||||||
DAPK3_chr19_3953453_3976099 | 3953645 | G | GGGGGGGG others(17): Show |
downstream_gene_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 251 | 0.0040 | 24 | c.*54 others(35): Show |
DAPK3 | ENSG00000167657.14 | transcript | ENST00000545797.7 | protein_coding | 4807 | chr19 | TogoVar | |||||||
DAPP1_chr4_99811827_99875190 | 99814172 | G | GTATCTAT others(17): Show |
upstream_gene_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0093 | 1 | 264 | 0.0038 | 24 | c.-27 others(35): Show |
DAPP1 | ENSG00000070190.13 | transcript | ENST00000512369.2 | protein_coding | 2654 | chr4 | TogoVar | |||||||
DAPP1_chr4_99811827_99875190 | 99814176 | G | GTATCTAT others(17): Show |
upstream_gene_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 1 | 211 | 0.0047 | 24 | c.-27 others(35): Show |
DAPP1 | ENSG00000070190.13 | transcript | ENST00000512369.2 | protein_coding | 2650 | chr4 | TogoVar | |||||||
DAPP1_chr4_99811827_99875190 | 99814180 | G | GTATCTAT others(17): Show |
upstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0022 | 1 | 173 | 0.0058 | 24 | c.-27 others(35): Show |
DAPP1 | ENSG00000070190.13 | transcript | ENST00000512369.2 | protein_coding | 2646 | chr4 | TogoVar | |||||||
DAPP1_chr4_99811827_99875190 | 99865970 | A | ATATAATA others(17): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00544.hp2 others(60): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0008a0001c0001t0009others(3): Show | a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 others(36): Show |
63 | 255 | 0.2471 | 24 | c.687 others(37): Show |
DAPP1 | ENSG00000070190.13 | transcript | ENST00000512369.2 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
DAP_chr5_10674230_10766234 | 10761385 | C | CCGAGGGC others(17): Show |
upstream_gene_variant | MODIFIER | HG02055.hp1 HG03540.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0211 a0001c0001t0002g0155 a0001c0001t0002g0157 |
3 | 246 | 0.0122 | 24 | c.-31 others(33): Show |
DAP | ENSG00000112977.16 | transcript | ENST00000230895.11 | protein_coding | 152 | chr5 | TogoVar | |||||||
DAP_chr5_10674230_10766234 | 10761385 | C | CCGAGGGC others(17): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 HG01255.hp2 HG03831.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0100 others(9): Show |
12 | 255 | 0.0471 | 24 | c.-31 others(33): Show |
DAP | ENSG00000112977.16 | transcript | ENST00000230895.11 | protein_coding | 152 | chr5 | TogoVar | |||||||
DARS2_chr1_173819673_173863546 | 173825449 | C | CATTATTA others(17): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 31 | 0.0323 | 24 | c.127 others(39): Show |
DARS2 | ENSG00000117593.12 | transcript | ENST00000649689.2 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DARS2_chr1_173819673_173863546 | 173842317 | T | TTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 128 | 0.0078 | 24 | c.112 others(43): Show |
DARS2 | ENSG00000117593.12 | transcript | ENST00000649689.2 | protein_coding | 11/16 | chr1 | TogoVar | |||||||
DAW1_chr2_227866631_227929344 | 227913871 | A | ATATCTAT others(17): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0023 | 1 | 221 | 0.0045 | 24 | c.974 others(41): Show |
DAW1 | ENSG00000123977.10 | transcript | ENST00000309931.3 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DAW1_chr2_227866631_227929344 | 227918142 | G | GTCCATCC others(17): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0179 | 1 | 208 | 0.0048 | 24 | c.974 others(39): Show |
DAW1 | ENSG00000123977.10 | transcript | ENST00000309931.3 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DAZAP1_chr19_1402586_1440684 | 1407619 | A | AGCCGCCG others(17): Show |
5_prime_UTR_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG01243.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0022a0001c0001t0031 | a0001c0001t0018g0002 a0001c0001t0018g0079 a0001c0001t0018g0200 others(3): Show |
7 | 105 | 0.0667 | 24 | c.-13 others(33): Show |
DAZAP1 | ENSG00000071626.17 | transcript | ENST00000233078.9 | protein_coding | 1/12 | 111 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
DAZL_chr3_16581792_16610423 | 16609575 | A | AGTGTGTG others(17): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 NA18951.hp1 NA19067.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0006 |
4 | 320 | 0.0125 | 24 | c.-43 others(35): Show |
DAZL | ENSG00000092345.14 | transcript | ENST00000399444.7 | protein_coding | 4153 | chr3 | TogoVar | |||||||
DAZL_chr3_16581792_16610423 | 16609596 | G | GTGTGTGT others(17): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 a0001c0001t0001g0089 |
2 | 146 | 0.0137 | 24 | c.-43 others(35): Show |
DAZL | ENSG00000092345.14 | transcript | ENST00000399444.7 | protein_coding | 4174 | chr3 | TogoVar | |||||||
DAZL_chr3_16581792_16610423 | 16609596 | G | GTGTGTGT others(17): Show |
upstream_gene_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 145 | 0.0069 | 24 | c.-43 others(35): Show |
DAZL | ENSG00000092345.14 | transcript | ENST00000399444.7 | protein_coding | 4174 | chr3 | TogoVar | |||||||
DAZL_chr3_16581792_16610423 | 16609596 | G | GTGTGTGT others(17): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 HG04184.hp1 NA18612.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0004 a0001c0001t0001g0083 a0001c0003t0001g0011 |
3 | 147 | 0.0204 | 24 | c.-43 others(35): Show |
DAZL | ENSG00000092345.14 | transcript | ENST00000399444.7 | protein_coding | 4174 | chr3 | TogoVar | |||||||
DAZL_chr3_16581792_16610423 | 16609596 | G | GTGTGTGT others(17): Show |
upstream_gene_variant | MODIFIER | HG00673.hp2 HG00738.hp2 HG00741.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0023 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0037 others(9): Show |
21 | 165 | 0.1273 | 24 | c.-43 others(35): Show |
DAZL | ENSG00000092345.14 | transcript | ENST00000399444.7 | protein_coding | 4174 | chr3 | TogoVar | |||||||
DBF4B_chr17_44703665_44757264 | 44725684 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01169.hp2 HG02109.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0198 a0001c0001t0001g0213 others(12): Show |
16 | 127 | 0.1260 | 24 | c.225 others(41): Show |
DBF4B | ENSG00000161692.18 | transcript | ENST00000315005.8 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DBF4B_chr17_44703665_44757264 | 44745392 | G | GGGTAATT others(17): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 286 | 0.0035 | 24 | c.831 others(41): Show |
DBF4B | ENSG00000161692.18 | transcript | ENST00000315005.8 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DBNDD1_chr16_89999871_90024456 | 90013262 | T | TAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01978.hp1 HG01993.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0001g0098 a0001c0001t0001g0123 a0001c0001t0001g0124 others(6): Show |
10 | 26 | 0.3846 | 24 | c.32- others(39): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 1/3 | chr16 | TogoVar |