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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DACT1_chr14_58632962_58653321 | 58652856 | TCCTTCCT others(3): Show |
T | downstream_gene_variant | MODIFIER | HG03239.hp2 NA18949.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0003 a0001c0007t0001g0023 |
2 | 388 | 0.0052 | -10 | c.*57 others(21): Show |
DACT1 | ENSG00000165617.16 | transcript | ENST00000395153.8 | protein_coding | 4536 | chr14 | TogoVar | |||||||
DACT2_chr6_168301904_168324777 | 168311583 | TCCACACA others(3): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00597.hp2 others(32): Show |
a0001a0002a0006others(5): Show | a0001c0001a0002c0003a0002c0005others(6): Show | a0001c0001t0001a0002c0003t0003a0002c0003t0006others(7): Show | a0001c0001t0001g0290 a0002c0003t0003g0007 a0002c0003t0003g0024 others(24): Show |
35 | 476 | 0.0735 | -10 | c.247 others(25): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
DACT2_chr6_168301904_168324777 | 168320161 | CTTTTTTT others(3): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG02647.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 a0001c0001t0001g0267 |
2 | 476 | 0.0042 | -10 | c.-53 others(19): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 385 | chr6 | TogoVar | |||||||
DACT2_chr6_168301904_168324777 | 168321826 | TCTTCTTC others(3): Show |
T | upstream_gene_variant | MODIFIER | NA18943.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0252 | 1 | 476 | 0.0021 | -10 | c.-22 others(21): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 2050 | chr6 | TogoVar | |||||||
DACT2_chr6_168301904_168324777 | 168321949 | TCTTCCTC others(3): Show |
T | upstream_gene_variant | MODIFIER | HG01243.hp1 HG02451.hp2 HG02723.hp1 others(3): Show |
a0007 | a0007c0010 | a0007c0010t0002a0007c0010t0007 | a0007c0010t0002g0189 a0007c0010t0007g0008 |
6 | 476 | 0.0126 | -10 | c.-23 others(21): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 2173 | chr6 | TogoVar | |||||||
DACT3_chr19_46642551_46666182 | 46646883 | CATATAGT others(3): Show |
C | downstream_gene_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0142 | 1 | 460 | 0.0022 | -10 | c.*15 others(21): Show |
DACT3 | ENSG00000197380.11 | transcript | ENST00000391916.7 | protein_coding | 667 | chr19 | TogoVar | |||||||
DACT3_chr19_46642551_46666182 | 46651644 | TTGTGTGT others(3): Show |
T | intron_variant | MODIFIER | HG01258.hp1 NA18989.hp1 NA18989.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0171 a0001c0001t0001g0210 a0001c0001t0001g0259 others(2): Show |
5 | 460 | 0.0109 | -10 | c.499 others(27): Show |
DACT3 | ENSG00000197380.11 | transcript | ENST00000391916.7 | protein_coding | 3/3 | chr19 | TogoVar | |||||||
DAD1_chr14_22559907_22594224 | 22581743 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0068 | 1 | 386 | 0.0026 | -10 | c.212 others(27): Show |
DAD1 | ENSG00000129562.11 | transcript | ENST00000250498.9 | protein_coding | 1/2 | chr14 | TogoVar | |||||||
DAG1_chr3_49465267_49540615 | 49497436 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(106): Show |
a0001a0007a0008 | a0001c0001a0001c0007a0001c0012others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(8): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0043 others(105): Show |
109 | 238 | 0.4580 | -10 | c.-11 others(31): Show |
DAG1 | ENSG00000173402.13 | transcript | ENST00000308775.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DAG1_chr3_49465267_49540615 | 49504567 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01243.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0228 a0001c0001t0003g0234 |
2 | 238 | 0.0084 | -10 | c.-11 others(29): Show |
DAG1 | ENSG00000173402.13 | transcript | ENST00000308775.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DAGLB_chr7_6404129_6452954 | 6407843 | GTTTTTTT others(3): Show |
G | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG00735.hp2 others(16): Show |
a0002a0005 | a0002c0003a0002c0009a0005c0007 | a0002c0003t0001a0002c0009t0001a0005c0007t0001 | a0002c0003t0001g0015 a0002c0003t0001g0023 a0002c0003t0001g0031 others(16): Show |
19 | 380 | 0.0500 | -10 | c.*19 others(21): Show |
DAGLB | ENSG00000164535.15 | transcript | ENST00000297056.11 | protein_coding | 1285 | chr7 | TogoVar | |||||||
DAO_chr12_108875092_108906043 | 108875232 | TACACACA others(3): Show |
T | upstream_gene_variant | MODIFIER | HG00438.hp1 NA18940.hp1 NA18999.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0108 a0001c0001t0001g0204 others(1): Show |
4 | 388 | 0.0103 | -10 | c.-50 others(21): Show |
DAO | ENSG00000110887.8 | transcript | ENST00000228476.8 | protein_coding | 4859 | chr12 | TogoVar | |||||||
DAO_chr12_108875092_108906043 | 108875272 | CACACACA others(3): Show |
C | upstream_gene_variant | MODIFIER | HG02145.hp2 HG02451.hp1 HG02886.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0002 | a0001c0001t0001g0113 a0001c0001t0003g0217 a0001c0002t0002g0012 others(1): Show |
4 | 388 | 0.0103 | -10 | c.-49 others(21): Show |
DAO | ENSG00000110887.8 | transcript | ENST00000228476.8 | protein_coding | 4819 | chr12 | TogoVar | |||||||
DAO_chr12_108875092_108906043 | 108895352 | CATGTGTG others(3): Show |
C | intron_variant | MODIFIER | HG02572.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0309 a0001c0001t0001g0311 |
2 | 388 | 0.0052 | -10 | c.612 others(25): Show |
DAO | ENSG00000110887.8 | transcript | ENST00000228476.8 | protein_coding | 7/10 | chr12 | TogoVar | |||||||
DAO_chr12_108875092_108906043 | 108901486 | TTGTGTGT others(3): Show |
T | downstream_gene_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 388 | 0.0026 | -10 | c.*95 others(19): Show |
DAO | ENSG00000110887.8 | transcript | ENST00000228476.8 | protein_coding | 444 | chr12 | TogoVar | |||||||
DAPK1_chr9_87492867_87713634 | 87518099 | GTTGTTGT others(3): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(105): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(14): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(26): Show | a0001c0001t0001g0056 a0001c0001t0001g0070 a0001c0001t0001g0072 others(105): Show |
108 | 236 | 0.4576 | -10 | c.62+ others(27): Show |
DAPK1 | ENSG00000196730.13 | transcript | ENST00000408954.8 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DAPK1_chr9_87492867_87713634 | 87547576 | AGAGTGTG others(3): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00609.hp1 others(86): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0004others(20): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(37): Show | a0001c0001t0001g0028 a0001c0001t0001g0050 a0001c0001t0001g0070 others(86): Show |
89 | 236 | 0.3771 | -10 | c.62+ others(27): Show |
DAPK1 | ENSG00000196730.13 | transcript | ENST00000408954.8 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DAPK1_chr9_87492867_87713634 | 87548913 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG01192.hp2 HG02257.hp1 others(7): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(6): Show | a0001c0001t0001g0139 a0001c0002t0001g0148 a0001c0002t0001g0149 others(7): Show |
10 | 236 | 0.0424 | -10 | c.62+ others(27): Show |
DAPK1 | ENSG00000196730.13 | transcript | ENST00000408954.8 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DAPK1_chr9_87492867_87713634 | 87571488 | CACACACC others(3): Show |
C | intron_variant | MODIFIER | HG02809.hp1 | a0003 | a0003c0007 | a0003c0007t0002 | a0003c0007t0002g0194 | 1 | 236 | 0.0042 | -10 | c.63- others(27): Show |
DAPK1 | ENSG00000196730.13 | transcript | ENST00000408954.8 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DAPK1_chr9_87492867_87713634 | 87575213 | CAATAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00609.hp2 others(49): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(13): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(19): Show | a0001c0001t0001g0003 a0001c0001t0001g0078 a0001c0001t0001g0102 others(49): Show |
52 | 236 | 0.2203 | -10 | c.63- others(27): Show |
DAPK1 | ENSG00000196730.13 | transcript | ENST00000408954.8 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DAPK1_chr9_87492867_87713634 | 87576553 | GTTTGTTT others(3): Show |
G | intron_variant | MODIFIER | HG02257.hp1 HG02630.hp1 HG03225.hp1 others(5): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0002t0003a0001c0005t0003others(5): Show | a0001c0001t0001g0139 a0001c0002t0003g0122 a0001c0005t0003g0118 others(5): Show |
8 | 236 | 0.0339 | -10 | c.63- others(27): Show |
DAPK1 | ENSG00000196730.13 | transcript | ENST00000408954.8 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DAPK1_chr9_87492867_87713634 | 87662560 | GTTTTTTT others(3): Show |
G | intron_variant | MODIFIER | HG00609.hp2 HG03490.hp1 NA19007.hp1 others(1): Show |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0001a0001c0004t0001a0001c0005t0001 | a0001c0001t0001g0080 a0001c0001t0001g0204 a0001c0004t0001g0097 others(1): Show |
4 | 236 | 0.0170 | -10 | c.192 others(29): Show |
DAPK1 | ENSG00000196730.13 | transcript | ENST00000408954.8 | protein_coding | 18/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DAPK1_chr9_87492867_87713634 | 87692952 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02071.hp1 HG02896.hp1 others(4): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0002c0011others(2): Show | a0001c0001t0001a0002c0003t0001a0002c0011t0002others(2): Show | a0001c0001t0001g0157 a0001c0001t0001g0196 a0002c0003t0001g0216 others(4): Show |
7 | 236 | 0.0297 | -10 | c.241 others(29): Show |
DAPK1 | ENSG00000196730.13 | transcript | ENST00000408954.8 | protein_coding | 21/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DAPK2_chr15_63902036_64051485 | 63925678 | GCACACAC others(3): Show |
G | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0020 | 1 | 214 | 0.0047 | -10 | c.812 others(25): Show |
DAPK2 | ENSG00000035664.11 | transcript | ENST00000457488.6 | protein_coding | 8/11 | chr15 | TogoVar | |||||||
DAPK2_chr15_63902036_64051485 | 63989188 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02293.hp1 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 a0001c0001t0001g0119 |
2 | 214 | 0.0094 | -10 | c.93- others(25): Show |
DAPK2 | ENSG00000035664.11 | transcript | ENST00000457488.6 | protein_coding | 2/11 | chr15 | TogoVar | |||||||
DAPK2_chr15_63902036_64051485 | 64002916 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00735.hp1 HG01070.hp1 others(21): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(6): Show | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 others(21): Show |
24 | 214 | 0.1122 | -10 | c.93- others(27): Show |
DAPK2 | ENSG00000035664.11 | transcript | ENST00000457488.6 | protein_coding | 2/11 | chr15 | TogoVar | |||||||
DAPK2_chr15_63902036_64051485 | 64046680 | TCTGCGCG others(3): Show |
T | upstream_gene_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 214 | 0.0047 | -10 | c.-39 others(19): Show |
DAPK2 | ENSG00000035664.11 | transcript | ENST00000457488.6 | protein_coding | 196 | chr15 | TogoVar | |||||||
DAPL1_chr2_158790317_158820990 | 158791981 | TTCTTTCT others(3): Show |
T | upstream_gene_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0020 | 1 | 360 | 0.0028 | -10 | c.-33 others(21): Show |
DAPL1 | ENSG00000163331.12 | transcript | ENST00000309950.8 | protein_coding | 3335 | chr2 | TogoVar | |||||||
DAPL1_chr2_158790317_158820990 | 158805694 | TATTAATT others(3): Show |
T | intron_variant | MODIFIER | HG00597.hp1 NA18612.hp1 NA18972.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0060 others(1): Show |
8 | 360 | 0.0222 | -10 | c.146 others(27): Show |
DAPL1 | ENSG00000163331.12 | transcript | ENST00000309950.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DAPL1_chr2_158790317_158820990 | 158816561 | CCACACAC others(3): Show |
C | downstream_gene_variant | MODIFIER | HG00423.hp1 HG01891.hp2 HG02040.hp1 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001a0002c0002t0002 | a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0130 others(9): Show |
16 | 360 | 0.0444 | -10 | c.*74 others(19): Show |
DAPL1 | ENSG00000163331.12 | transcript | ENST00000309950.8 | protein_coding | 572 | chr2 | TogoVar | |||||||
DAPP1_chr4_99811827_99875190 | 99812688 | GGTGTGTG others(3): Show |
G | upstream_gene_variant | MODIFIER | HG02615.hp1 HG02622.hp2 HG02896.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0003 | a0001c0001t0005g0131 a0001c0001t0005g0132 a0001c0001t0005g0133 others(1): Show |
4 | 366 | 0.0109 | -10 | c.-42 others(21): Show |
DAPP1 | ENSG00000070190.13 | transcript | ENST00000512369.2 | protein_coding | 4138 | chr4 | TogoVar | |||||||
DAPP1_chr4_99811827_99875190 | 99839367 | ATATAGAT others(3): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00642.hp2 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0002a0001c0001t0010a0001c0001t0016others(5): Show | a0001c0001t0002g0031 a0001c0001t0002g0056 a0001c0001t0002g0065 others(21): Show |
27 | 366 | 0.0738 | -10 | c.225 others(25): Show |
DAPP1 | ENSG00000070190.13 | transcript | ENST00000512369.2 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
DAPP1_chr4_99811827_99875190 | 99857699 | TATACACA others(3): Show |
T | intron_variant | MODIFIER | HG03017.hp1 HG03942.hp1 |
a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0160 a0001c0001t0018g0161 |
2 | 366 | 0.0055 | -10 | c.490 others(27): Show |
DAPP1 | ENSG00000070190.13 | transcript | ENST00000512369.2 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
DAPP1_chr4_99811827_99875190 | 99857701 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG01243.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0016a0001c0001t0019a0001c0004t0027 | a0001c0001t0016g0012 a0001c0001t0016g0053 a0001c0001t0016g0054 others(2): Show |
6 | 366 | 0.0164 | -10 | c.490 others(27): Show |
DAPP1 | ENSG00000070190.13 | transcript | ENST00000512369.2 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
DAPP1_chr4_99811827_99875190 | 99866766 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 366 | 0.0027 | -10 | c.774 others(25): Show |
DAPP1 | ENSG00000070190.13 | transcript | ENST00000512369.2 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
DAP_chr5_10674230_10766234 | 10733155 | CGTGTGTG others(3): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG03139.hp1 HG04228.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0048 a0001c0001t0001g0056 others(12): Show |
18 | 372 | 0.0484 | -10 | c.152 others(29): Show |
DAP | ENSG00000112977.16 | transcript | ENST00000230895.11 | protein_coding | 2/3 | chr5 | TogoVar | |||||||
DAP_chr5_10674230_10766234 | 10733198 | GTGTGTGT others(3): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG00673.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0010others(4): Show | a0001c0001t0002g0016 a0001c0001t0002g0110 a0001c0001t0002g0114 others(21): Show |
25 | 372 | 0.0672 | -10 | c.152 others(29): Show |
DAP | ENSG00000112977.16 | transcript | ENST00000230895.11 | protein_coding | 2/3 | chr5 | TogoVar | |||||||
DARS1_chr2_135900881_135990626 | 135902966 | AAAAACAA others(3): Show |
A | downstream_gene_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 378 | 0.0027 | -10 | c.*43 others(21): Show |
DARS1 | ENSG00000115866.11 | transcript | ENST00000264161.9 | protein_coding | 2914 | chr2 | TogoVar | |||||||
DARS1_chr2_135900881_135990626 | 135955673 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02559.hp1 HG02717.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0014others(5): Show | a0001c0001t0001g0080 a0001c0001t0006g0181 a0001c0001t0006g0183 others(10): Show |
13 | 378 | 0.0344 | -10 | c.320 others(27): Show |
DARS1 | ENSG00000115866.11 | transcript | ENST00000264161.9 | protein_coding | 4/15 | chr2 | TogoVar | |||||||
DARS1_chr2_135900881_135990626 | 135959391 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01123.hp2 HG01167.hp2 others(25): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0235 a0001c0001t0002g0287 a0001c0001t0002g0288 others(25): Show |
28 | 378 | 0.0741 | -10 | c.320 others(27): Show |
DARS1 | ENSG00000115866.11 | transcript | ENST00000264161.9 | protein_coding | 4/15 | chr2 | TogoVar | |||||||
DARS1_chr2_135900881_135990626 | 135970252 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02895.hp1 HG03195.hp1 HG03225.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0267 a0001c0002t0009g0268 a0001c0002t0009g0269 others(1): Show |
4 | 378 | 0.0106 | -10 | c.218 others(27): Show |
DARS1 | ENSG00000115866.11 | transcript | ENST00000264161.9 | protein_coding | 3/15 | chr2 | TogoVar | |||||||
DARS2_chr1_173819673_173863546 | 173844669 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG01106.hp1 HG01884.hp2 others(12): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0242 a0001c0001t0001g0256 a0001c0001t0001g0266 others(11): Show |
15 | 344 | 0.0436 | -10 | c.112 others(27): Show |
DARS2 | ENSG00000117593.12 | transcript | ENST00000649689.2 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DARS2_chr1_173819673_173863546 | 173844778 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00733.hp1 HG01070.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0236 others(11): Show |
16 | 344 | 0.0465 | -10 | c.112 others(27): Show |
DARS2 | ENSG00000117593.12 | transcript | ENST00000649689.2 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DARS2_chr1_173819673_173863546 | 173844918 | CGAGTAGC others(3): Show |
C | intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0282 | 1 | 344 | 0.0029 | -10 | c.112 others(27): Show |
DARS2 | ENSG00000117593.12 | transcript | ENST00000649689.2 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DAXX_chr6_33313558_33327959 | 33324882 | CAAAAAAA others(3): Show |
C | upstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG02055.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0006t0001a0001c0006t0002 | a0001c0001t0002g0005 a0001c0006t0001g0034 a0001c0006t0002g0033 |
3 | 375 | 0.0080 | -10 | c.-20 others(21): Show |
DAXX | ENSG00000204209.13 | transcript | ENST00000374542.10 | protein_coding | 1924 | chr6 | TogoVar | |||||||
DAZ1_chrY_23124355_23204008 | 23187709 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 63 | 0.0159 | -10 | c.498 others(27): Show |
DAZ1 | ENSG00000188120.16 | transcript | ENST00000405239.6 | protein_coding | 6/27 | chrY | TogoVar | |||||||
DAZAP2_chr12_51233826_51248933 | 51248430 | ACACACTC others(3): Show |
A | downstream_gene_variant | MODIFIER | HG02723.hp2 NA18954.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007 | a0001c0001t0003g0001 a0001c0001t0007g0039 |
2 | 438 | 0.0046 | -10 | c.*59 others(21): Show |
DAZAP2 | ENSG00000183283.16 | transcript | ENST00000412716.8 | protein_coding | 4498 | chr12 | TogoVar | |||||||
DAZAP2_chr12_51233826_51248933 | 51248434 | ACTCTCTC others(3): Show |
A | downstream_gene_variant | MODIFIER | HG02922.hp1 NA19081.hp1 NA19086.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0002c0002t0001g0007 |
3 | 438 | 0.0069 | -10 | c.*59 others(21): Show |
DAZAP2 | ENSG00000183283.16 | transcript | ENST00000412716.8 | protein_coding | 4502 | chr12 | TogoVar | |||||||
DAZL_chr3_16581792_16610423 | 16607264 | GCTCTGGC others(3): Show |
G | upstream_gene_variant | MODIFIER | HG02717.hp1 HG02809.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0035 | 3 | 446 | 0.0067 | -10 | c.-20 others(21): Show |
DAZL | ENSG00000092345.14 | transcript | ENST00000399444.7 | protein_coding | 1842 | chr3 | TogoVar | |||||||
DAZL_chr3_16581792_16610423 | 16607370 | ATTATATT others(3): Show |
A | upstream_gene_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 446 | 0.0022 | -10 | c.-21 others(21): Show |
DAZL | ENSG00000092345.14 | transcript | ENST00000399444.7 | protein_coding | 1948 | chr3 | TogoVar |