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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DGKG_chr3_186142201_186367234 | 186358506 | T | TTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG02809.hp1 HG03139.hp1 HG03453.hp1 others(1): Show |
a0001a0002 | a0001c0003a0001c0018a0002c0001 | a0001c0003t0005a0001c0018t0008a0002c0001t0003others(1): Show | a0001c0003t0005g0108 a0001c0018t0008g0218 a0002c0001t0003g0219 others(1): Show |
4 | 234 | 0.0171 | 18 | c.-24 others(37): Show |
DGKG | ENSG00000058866.15 | transcript | ENST00000265022.8 | protein_coding | 1/24 | chr3 | TogoVar | |||||||
DGKH_chr13_42043648_42247896 | 42049052 | C | CGGGAAGG others(11): Show |
intron_variant | MODIFIER | HG02976.hp2 HG03195.hp1 |
a0001 | a0001c0002 | a0001c0002t0024 | a0001c0002t0024g0003 a0001c0002t0024g0004 |
2 | 316 | 0.0063 | 18 | c.192 others(33): Show |
DGKH | ENSG00000102780.17 | transcript | ENST00000337343.9 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
DGKH_chr13_42043648_42247896 | 42087044 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0006 | a0001c0006t0017 | a0001c0006t0017g0285 | 1 | 316 | 0.0032 | 18 | c.192 others(37): Show |
DGKH | ENSG00000102780.17 | transcript | ENST00000337343.9 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
DGKH_chr13_42043648_42247896 | 42121066 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00609.hp2 HG02055.hp1 others(10): Show |
a0001a0010a0013 | a0001c0001a0001c0003a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0064a0001c0001t0085others(9): Show | a0001c0001t0001g0299 a0001c0001t0064g0267 a0001c0001t0085g0266 others(10): Show |
13 | 316 | 0.0411 | 18 | c.193 others(35): Show |
DGKH | ENSG00000102780.17 | transcript | ENST00000337343.9 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
DGKH_chr13_42043648_42247896 | 42135507 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01106.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0070 | a0001c0001t0002g0153 a0001c0001t0070g0284 |
2 | 316 | 0.0063 | 18 | c.384 others(35): Show |
DGKH | ENSG00000102780.17 | transcript | ENST00000337343.9 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
DGKH_chr13_42043648_42247896 | 42159244 | C | CTTTTTTT others(11): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0084 | a0001c0001t0084g0252 | 1 | 316 | 0.0032 | 18 | c.623 others(30): Show |
DGKH | ENSG00000102780.17 | transcript | ENST00000337343.9 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
DGKH_chr13_42043648_42247896 | 42206975 | T | TTTTCTCT others(11): Show |
intron_variant | MODIFIER | NA18993.hp2 NA18999.hp2 NA19012.hp2 |
a0001 | a0001c0003 | a0001c0003t0006a0001c0003t0105 | a0001c0003t0006g0175 a0001c0003t0006g0305 a0001c0003t0105g0132 |
3 | 316 | 0.0095 | 18 | c.260 others(35): Show |
DGKH | ENSG00000102780.17 | transcript | ENST00000337343.9 | protein_coding | 21/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
DGKH_chr13_42043648_42247896 | 42206975 | T | TTTTCTTT others(11): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0017 | 1 | 316 | 0.0032 | 18 | c.260 others(35): Show |
DGKH | ENSG00000102780.17 | transcript | ENST00000337343.9 | protein_coding | 21/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
DGKH_chr13_42043648_42247896 | 42207025 | T | TTCTTTCT others(11): Show |
intron_variant | MODIFIER | NA19058.hp2 NA19062.hp2 |
a0001 | a0001c0004a0001c0010 | a0001c0004t0014a0001c0010t0050 | a0001c0004t0014g0157 a0001c0010t0050g0301 |
2 | 316 | 0.0063 | 18 | c.260 others(35): Show |
DGKH | ENSG00000102780.17 | transcript | ENST00000337343.9 | protein_coding | 21/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
DGKH_chr13_42043648_42247896 | 42207693 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG01243.hp2 HG03669.hp2 HG03710.hp2 others(3): Show |
a0001a0009 | a0001c0001a0001c0004a0001c0017others(2): Show | a0001c0001t0002a0001c0001t0034a0001c0004t0011others(3): Show | a0001c0001t0002g0233 a0001c0001t0034g0039 a0001c0004t0011g0187 others(3): Show |
6 | 316 | 0.0190 | 18 | c.260 others(37): Show |
DGKH | ENSG00000102780.17 | transcript | ENST00000337343.9 | protein_coding | 21/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
DGKI_chr7_137376037_137851974 | 137436790 | C | CGATAAAT others(11): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0007 | a0001c0007t0041 | a0001c0007t0041g0073 | 1 | 94 | 0.0106 | 18 | c.276 others(37): Show |
DGKI | ENSG00000157680.17 | transcript | ENST00000614521.2 | protein_coding | 28/32 | chr7 | TogoVar | |||||||
DGKI_chr7_137376037_137851974 | 137436790 | C | CGGTAAAT others(11): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02280.hp1 HG02451.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0008a0001c0013others(2): Show | a0001c0001t0007a0001c0008t0020a0001c0013t0039others(3): Show | a0001c0001t0007g0010 a0001c0008t0020g0048 a0001c0013t0039g0068 others(3): Show |
6 | 94 | 0.0638 | 18 | c.276 others(37): Show |
DGKI | ENSG00000157680.17 | transcript | ENST00000614521.2 | protein_coding | 28/32 | chr7 | TogoVar | |||||||
DGKI_chr7_137376037_137851974 | 137472254 | A | AATATATG others(11): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02965.hp1 HG03453.hp2 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0028a0001c0004t0011 | a0001c0002t0028g0039 a0001c0004t0011g0071 a0001c0004t0011g0085 |
3 | 94 | 0.0319 | 18 | c.237 others(37): Show |
DGKI | ENSG00000157680.17 | transcript | ENST00000614521.2 | protein_coding | 23/32 | chr7 | TogoVar | |||||||
DGKI_chr7_137376037_137851974 | 137618151 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG02965.hp2 HG03195.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0037 | a0001c0002t0002g0027 a0001c0003t0037g0036 |
2 | 94 | 0.0213 | 18 | c.993 others(35): Show |
DGKI | ENSG00000157680.17 | transcript | ENST00000614521.2 | protein_coding | 8/32 | chr7 | TogoVar | |||||||
DGKI_chr7_137376037_137851974 | 137618151 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG02622.hp1 HG03225.hp1 |
a0001 | a0001c0002a0001c0007 | a0001c0002t0021a0001c0007t0003 | a0001c0002t0021g0009 a0001c0007t0003g0088 |
2 | 94 | 0.0213 | 18 | c.993 others(35): Show |
DGKI | ENSG00000157680.17 | transcript | ENST00000614521.2 | protein_coding | 8/32 | chr7 | TogoVar | |||||||
DGKI_chr7_137376037_137851974 | 137691803 | T | TTTTTTTG others(11): Show |
intron_variant | MODIFIER | HG02145.hp2 HG03139.hp1 NA21309.hp2 |
a0001 | a0001c0003a0001c0008a0001c0023 | a0001c0003t0046a0001c0008t0015a0001c0023t0009 | a0001c0003t0046g0094 a0001c0008t0015g0055 a0001c0023t0009g0024 |
3 | 94 | 0.0319 | 18 | c.402 others(35): Show |
DGKI | ENSG00000157680.17 | transcript | ENST00000614521.2 | protein_coding | 1/32 | chr7 | TogoVar | |||||||
DGKI_chr7_137376037_137851974 | 137691809 | T | TTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0002 | a0001c0002t0033 | a0001c0002t0033g0008 | 1 | 94 | 0.0106 | 18 | c.402 others(35): Show |
DGKI | ENSG00000157680.17 | transcript | ENST00000614521.2 | protein_coding | 1/32 | chr7 | TogoVar | |||||||
DGKI_chr7_137376037_137851974 | 137846134 | T | TTCTCTCT others(11): Show |
intron_variant | MODIFIER | HG02145.hp2 HG03540.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0034a0001c0003t0046 | a0001c0002t0034g0011 a0001c0003t0046g0094 |
2 | 94 | 0.0213 | 18 | c.401 others(33): Show |
DGKI | ENSG00000157680.17 | transcript | ENST00000614521.2 | protein_coding | 1/32 | chr7 | TogoVar | |||||||
DGKQ_chr4_953887_978569 | 956067 | G | GGTGGCCC others(11): Show |
downstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0008 | 1 | 438 | 0.0023 | 18 | c.*45 others(29): Show |
DGKQ | ENSG00000145214.14 | transcript | ENST00000273814.8 | protein_coding | 2819 | chr4 | TogoVar | |||||||
DGKQ_chr4_953887_978569 | 956105 | C | CGGCCCCT others(11): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00733.hp2 others(56): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0006others(11): Show | a0001c0001t0006a0001c0001t0009a0001c0001t0015others(22): Show | a0001c0001t0006g0011 a0001c0001t0009g0021 a0001c0001t0009g0200 others(36): Show |
59 | 438 | 0.1347 | 18 | c.*45 others(29): Show |
DGKQ | ENSG00000145214.14 | transcript | ENST00000273814.8 | protein_coding | 2781 | chr4 | TogoVar | |||||||
DGKQ_chr4_953887_978569 | 975324 | G | GCTCTCCC others(11): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(134): Show |
a0001a0002a0005others(7): Show | a0001c0001a0001c0002a0001c0005others(15): Show | a0001c0001t0001a0001c0001t0030a0001c0002t0001others(24): Show | a0001c0001t0001g0076 a0001c0001t0030g0085 a0001c0002t0001g0001 others(60): Show |
137 | 438 | 0.3128 | 18 | c.-18 others(29): Show |
DGKQ | ENSG00000145214.14 | transcript | ENST00000273814.8 | protein_coding | 1756 | chr4 | TogoVar | |||||||
DGLUCY_chr14_91109073_91230632 | 91202058 | A | AAATAATA others(11): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00597.hp1 HG01243.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0013a0002c0002 | a0001c0001t0001a0001c0013t0001a0002c0002t0001 | a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0054 others(16): Show |
19 | 216 | 0.0880 | 18 | c.144 others(37): Show |
DGLUCY | ENSG00000133943.21 | transcript | ENST00000256324.15 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DGLUCY_chr14_91109073_91230632 | 91205754 | C | CTCTTCTT others(11): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02647.hp2 HG02965.hp1 others(2): Show |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0001g0014 a0001c0001t0004g0171 a0001c0001t0005g0213 others(2): Show |
5 | 216 | 0.0232 | 18 | c.156 others(35): Show |
DGLUCY | ENSG00000133943.21 | transcript | ENST00000256324.15 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DHCR24_chr1_54844627_54892195 | 54848142 | C | CTGTGTGT others(11): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 HG02630.hp2 HG02818.hp1 others(11): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0003a0001c0002t0005a0001c0003t0005 | a0001c0002t0003g0243 a0001c0002t0005g0010 a0001c0002t0005g0142 others(9): Show |
14 | 386 | 0.0363 | 18 | c.*40 others(29): Show |
DHCR24 | ENSG00000116133.13 | transcript | ENST00000371269.9 | protein_coding | 1484 | chr1 | TogoVar | |||||||
DHCR7_chr11_71429411_71453393 | 71442524 | T | TAAACTCA others(11): Show |
intron_variant | MODIFIER | NA18985.hp1 | a0008 | a0008c0013 | a0008c0013t0001 | a0008c0013t0001g0055 | 1 | 410 | 0.0024 | 18 | c.322 others(33): Show |
DHCR7 | ENSG00000172893.18 | transcript | ENST00000355527.8 | protein_coding | 4/8 | chr11 | TogoVar | |||||||
DHFR_chr5_80621226_80659983 | 80634704 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02922.hp1 HG04204.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0050 | a0001c0001t0003g0182 a0001c0001t0003g0191 a0001c0001t0003g0194 others(1): Show |
4 | 376 | 0.0106 | 18 | c.370 others(33): Show |
DHFR | ENSG00000228716.7 | transcript | ENST00000439211.7 | protein_coding | 4/5 | chr5 | TogoVar | |||||||
DHFR_chr5_80621226_80659983 | 80637285 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01358.hp1 HG01433.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(1): Show | a0001c0001t0001g0124 a0001c0001t0004g0015 a0001c0001t0004g0028 others(2): Show |
8 | 376 | 0.0213 | 18 | c.369 others(33): Show |
DHFR | ENSG00000228716.7 | transcript | ENST00000439211.7 | protein_coding | 4/5 | chr5 | TogoVar | |||||||
DHFR_chr5_80621226_80659983 | 80654899 | G | GCAGCGCC others(11): Show |
5_prime_UTR_variant | MODIFIER | HG02630.hp1 HG03225.hp2 NA19030.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0046 | a0001c0001t0017g0043 a0001c0001t0017g0159 a0001c0001t0046g0160 |
4 | 376 | 0.0106 | 18 | c.-41 others(27): Show |
DHFR | ENSG00000228716.7 | transcript | ENST00000439211.7 | protein_coding | 1/6 | 411 | chr5 | TogoVar | ||||||
DHFR_chr5_80621226_80659983 | 80654905 | G | GCCGCAGC others(11): Show |
5_prime_UTR_variant | MODIFIER | NA18948.hp1 NA18962.hp2 |
a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0267 a0001c0001t0031g0268 |
2 | 376 | 0.0053 | 18 | c.-41 others(27): Show |
DHFR | ENSG00000228716.7 | transcript | ENST00000439211.7 | protein_coding | 1/6 | 417 | chr5 | TogoVar | ||||||
DHFR_chr5_80621226_80659983 | 80654905 | G | GCCGCAGC others(11): Show |
5_prime_UTR_variant | MODIFIER | HG00642.hp1 HG03942.hp2 NA18956.hp2 |
a0001 | a0001c0001 | a0001c0001t0030a0001c0001t0060 | a0001c0001t0030g0264 a0001c0001t0030g0265 a0001c0001t0060g0266 |
3 | 376 | 0.0080 | 18 | c.-41 others(27): Show |
DHFR | ENSG00000228716.7 | transcript | ENST00000439211.7 | protein_coding | 1/6 | 417 | chr5 | TogoVar | ||||||
DHFR_chr5_80621226_80659983 | 80654908 | G | GCAGCGCC others(11): Show |
5_prime_UTR_variant | MODIFIER | HG03139.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0044a0001c0001t0045 | a0001c0001t0044g0157 a0001c0001t0045g0158 |
2 | 376 | 0.0053 | 18 | c.-43 others(27): Show |
DHFR | ENSG00000228716.7 | transcript | ENST00000439211.7 | protein_coding | 1/6 | 420 | chr5 | TogoVar | ||||||
DHFR_chr5_80621226_80659983 | 80654908 | G | GCAGCGCC others(11): Show |
5_prime_UTR_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0061 | a0001c0001t0061g0269 | 1 | 376 | 0.0027 | 18 | c.-42 others(27): Show |
DHFR | ENSG00000228716.7 | transcript | ENST00000439211.7 | protein_coding | 1/6 | 420 | chr5 | TogoVar | ||||||
DHODH_chr16_72003744_72032659 | 72020333 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0153 | 1 | 414 | 0.0024 | 18 | c.518 others(33): Show |
DHODH | ENSG00000102967.12 | transcript | ENST00000219240.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DHRS4L2_chr14_23983929_24011403 | 24001957 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 32 | 0.0313 | 18 | c.665 others(33): Show |
DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DHRS4_chr14_23948770_23974279 | 23949601 | T | TAAAAAAA others(11): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 | a0011 | a0011c0027 | a0011c0027t0014 | a0011c0027t0014g0191 | 1 | 267 | 0.0038 | 18 | c.-41 others(29): Show |
DHRS4 | ENSG00000157326.19 | transcript | ENST00000313250.10 | protein_coding | 4168 | chr14 | TogoVar | |||||||
DHRS7B_chr17_21121964_21196420 | 21138097 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 382 | 0.0026 | 18 | c.20+ others(35): Show |
DHRS7B | ENSG00000109016.18 | transcript | ENST00000395511.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DHRS7B_chr17_21121964_21196420 | 21138099 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG02965.hp2 HG03041.hp2 HG03139.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0361 others(1): Show |
4 | 382 | 0.0105 | 18 | c.20+ others(35): Show |
DHRS7B | ENSG00000109016.18 | transcript | ENST00000395511.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DHRS7B_chr17_21121964_21196420 | 21138101 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0331 | 1 | 382 | 0.0026 | 18 | c.20+ others(35): Show |
DHRS7B | ENSG00000109016.18 | transcript | ENST00000395511.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DHRS7B_chr17_21121964_21196420 | 21140538 | A | ACACACAC others(11): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0366 | 1 | 382 | 0.0026 | 18 | c.20+ others(35): Show |
DHRS7B | ENSG00000109016.18 | transcript | ENST00000395511.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DHRS7B_chr17_21121964_21196420 | 21187094 | G | GATATATA others(11): Show |
intron_variant | MODIFIER | HG02723.hp1 HG02965.hp1 HG03139.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0367 others(1): Show |
4 | 382 | 0.0105 | 18 | c.620 others(35): Show |
DHRS7B | ENSG00000109016.18 | transcript | ENST00000395511.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DHRS7_chr14_60139119_60170398 | 60169133 | C | CAAAAAAA others(11): Show |
upstream_gene_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0107 | 1 | 388 | 0.0026 | 18 | c.-38 others(29): Show |
DHRS7 | ENSG00000100612.14 | transcript | ENST00000557185.6 | protein_coding | 3736 | chr14 | TogoVar | |||||||
DHRS9_chr2_169064563_169101167 | 169078815 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 398 | 0.0025 | 18 | c.-59 others(35): Show |
DHRS9 | ENSG00000073737.17 | transcript | ENST00000674881.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DHRS9_chr2_169064563_169101167 | 169079894 | A | AGAGAGGG others(11): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0175 | 1 | 398 | 0.0025 | 18 | c.-59 others(35): Show |
DHRS9 | ENSG00000073737.17 | transcript | ENST00000674881.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DHRS9_chr2_169064563_169101167 | 169079983 | G | GAAAGAAA others(11): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 398 | 0.0025 | 18 | c.-59 others(35): Show |
DHRS9 | ENSG00000073737.17 | transcript | ENST00000674881.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DHRS9_chr2_169064563_169101167 | 169079983 | G | GAGAGAAA others(11): Show |
intron_variant | MODIFIER | NA18992.hp1 NA19070.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 a0001c0001t0001g0161 |
2 | 398 | 0.0050 | 18 | c.-59 others(35): Show |
DHRS9 | ENSG00000073737.17 | transcript | ENST00000674881.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DHRS9_chr2_169064563_169101167 | 169079983 | G | GAGAGAGA others(11): Show |
intron_variant | MODIFIER | HG02698.hp2 NA19064.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 a0001c0001t0001g0272 |
2 | 398 | 0.0050 | 18 | c.-59 others(35): Show |
DHRS9 | ENSG00000073737.17 | transcript | ENST00000674881.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2282581 | A | AGAGAGAG others(11): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02004.hp1 HG03491.hp2 others(4): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0001a0002c0002t0003a0004c0004t0001others(1): Show | a0001c0001t0001g0049 a0002c0002t0003g0002 a0002c0002t0003g0017 others(4): Show |
7 | 50 | 0.1400 | 18 | c.388 others(35): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | |||||||
DHTKD1_chr10_12063954_12128221 | 12100287 | G | GGTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0286 | 1 | 374 | 0.0027 | 18 | c.175 others(33): Show |
DHTKD1 | ENSG00000181192.12 | transcript | ENST00000263035.9 | protein_coding | 9/16 | chr10 | TogoVar | |||||||
DHTKD1_chr10_12063954_12128221 | 12100287 | G | GTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00544.hp2 others(51): Show |
a0001a0019 | a0001c0001a0001c0006a0019c0032 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0067 a0001c0001t0001g0088 a0001c0001t0001g0102 others(51): Show |
54 | 374 | 0.1444 | 18 | c.175 others(33): Show |
DHTKD1 | ENSG00000181192.12 | transcript | ENST00000263035.9 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DHTKD1_chr10_12063954_12128221 | 12127550 | T | TCCCCCCC others(11): Show |
downstream_gene_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0315 | 1 | 374 | 0.0027 | 18 | c.*66 others(29): Show |
DHTKD1 | ENSG00000181192.12 | transcript | ENST00000263035.9 | protein_coding | 4330 | chr10 | TogoVar |