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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DGCR6L_chr22_20309238_20325060 | 20322832 | T | TGTGTGTG others(20): Show |
upstream_gene_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0021 | 1 | 35 | 0.0286 | 27 | c.-28 others(38): Show |
DGCR6L | ENSG00000128185.10 | transcript | ENST00000248879.8 | protein_coding | 2773 | chr22 | TogoVar | |||||||
DGCR6L_chr22_20309238_20325060 | 20322832 | T | TGTGTGTG others(20): Show |
upstream_gene_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 35 | 0.0286 | 27 | c.-28 others(38): Show |
DGCR6L | ENSG00000128185.10 | transcript | ENST00000248879.8 | protein_coding | 2773 | chr22 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14758928 | G | GATGATAG others(20): Show |
intron_variant | MODIFIER | HG02280.hp2 NA18906.hp1 |
a0001a0002 | a0001c0009a0002c0005 | a0001c0009t0002a0002c0005t0011 | a0001c0009t0002g0082 a0002c0005t0011g0079 |
2 | 118 | 0.0169 | 27 | c.71- others(42): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 2/25 | chr7 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14852487 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0131 | 1 | 13 | 0.0769 | 27 | c.-18 others(48): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 1/25 | chr7 | TogoVar | |||||||
DGKH_chr13_42043648_42247896 | 42159244 | C | CTTTTTTT others(20): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG00408.hp1 HG00609.hp2 HG00738.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0249 a0001c0001t0003g0024 a0001c0001t0003g0264 others(5): Show |
8 | 22 | 0.3636 | 27 | c.623 others(38): Show |
DGKH | ENSG00000102780.17 | transcript | ENST00000337343.9 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
DGKI_chr7_137376037_137851974 | 137618151 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0013 | a0001c0013t0003 | a0001c0013t0003g0087 | 1 | 16 | 0.0625 | 27 | c.993 others(44): Show |
DGKI | ENSG00000157680.17 | transcript | ENST00000614521.2 | protein_coding | 8/32 | chr7 | TogoVar | |||||||
DGKI_chr7_137376037_137851974 | 137618151 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0013 | a0001c0013t0040 | a0001c0013t0040g0080 | 1 | 16 | 0.0625 | 27 | c.993 others(44): Show |
DGKI | ENSG00000157680.17 | transcript | ENST00000614521.2 | protein_coding | 8/32 | chr7 | TogoVar | |||||||
DGKI_chr7_137376037_137851974 | 137618152 | T | TATATATA others(20): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0014 | a0001c0014t0004 | a0001c0014t0004g0022 | 1 | 85 | 0.0118 | 27 | c.993 others(44): Show |
DGKI | ENSG00000157680.17 | transcript | ENST00000614521.2 | protein_coding | 8/32 | chr7 | TogoVar | |||||||
DGLUCY_chr14_91109073_91230632 | 91202058 | A | AAATAATA others(20): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01361.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0003g0098 |
3 | 59 | 0.0508 | 27 | c.144 others(46): 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(20): Show |
intron_variant | MODIFIER | HG01169.hp2 HG01256.hp1 HG02451.hp1 others(3): Show |
a0003a0005a0017 | a0003c0003a0005c0009a0017c0027 | a0003c0003t0001a0005c0009t0001a0017c0027t0002 | a0003c0003t0001g0099 a0003c0003t0001g0158 a0005c0009t0001g0145 others(3): Show |
6 | 23 | 0.2609 | 27 | c.156 others(44): Show |
DGLUCY | ENSG00000133943.21 | transcript | ENST00000256324.15 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DGUOK_chr2_73921880_73963946 | 73923662 | A | AAGAAAAG others(20): Show |
upstream_gene_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0095 | 1 | 350 | 0.0029 | 27 | c.-32 others(38): Show |
DGUOK | ENSG00000114956.20 | transcript | ENST00000264093.9 | protein_coding | 3217 | chr2 | TogoVar | |||||||
DHFR_chr5_80621226_80659983 | 80654899 | G | GCAGCGCC others(20): Show |
5_prime_UTR_variant | MODIFIER | HG01496.hp2 HG02257.hp2 HG02451.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0045 a0001c0001t0011g0159 a0001c0001t0011g0160 others(1): Show |
5 | 371 | 0.0135 | 27 | c.-41 others(36): Show |
DHFR | ENSG00000228716.7 | transcript | ENST00000439211.7 | protein_coding | 1/6 | 411 | chr5 | TogoVar | ||||||
DHFR_chr5_80621226_80659983 | 80654908 | G | GCAGCGCC others(20): Show |
5_prime_UTR_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0158 | 1 | 358 | 0.0028 | 27 | c.-42 others(36): Show |
DHFR | ENSG00000228716.7 | transcript | ENST00000439211.7 | protein_coding | 1/6 | 420 | chr5 | TogoVar | ||||||
DHRS4L2_chr14_23983929_24011403 | 24001957 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01168.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0018 a0001c0005t0001g0013 |
2 | 5 | 0.4000 | 27 | c.665 others(42): Show |
DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2227793 | A | AGGGAGGG others(20): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0046 | 1 | 14 | 0.0714 | 27 | c.805 others(44): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 6/6 | chrX | TogoVar | |||||||
DHX15_chr4_24522475_24589554 | 24550094 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 22 | 0.0455 | 27 | c.108 others(46): Show |
DHX15 | ENSG00000109606.13 | transcript | ENST00000336812.5 | protein_coding | 5/13 | chr4 | TogoVar | |||||||
DHX29_chr5_55251055_55312694 | 55260527 | G | GGCCTGGG others(20): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00741.hp1 HG01168.hp2 others(40): Show |
a0001a0002a0005 | a0001c0001a0001c0012a0002c0004others(1): Show | a0001c0001t0002a0001c0012t0002a0002c0004t0004others(1): Show | a0001c0001t0002g0006 a0001c0001t0002g0010 a0001c0001t0002g0011 others(28): Show |
43 | 117 | 0.3675 | 27 | c.396 others(44): Show |
DHX29 | ENSG00000067248.11 | transcript | ENST00000251636.10 | protein_coding | 25/26 | chr5 | TogoVar | |||||||
DHX29_chr5_55251055_55312694 | 55260527 | G | GGCCTGGG others(20): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp1 others(218): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(172): Show |
221 | 295 | 0.7492 | 27 | c.396 others(44): Show |
DHX29 | ENSG00000067248.11 | transcript | ENST00000251636.10 | protein_coding | 25/26 | chr5 | TogoVar | |||||||
DHX9_chr1_182834347_182892982 | 182868520 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0057 | 1 | 158 | 0.0063 | 27 | c.155 others(46): Show |
DHX9 | ENSG00000135829.17 | transcript | ENST00000367549.4 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DIAPH2_chrX_96679842_97609997 | 96807944 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 35 | 0.0286 | 27 | c.447 others(46): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DIAPH2_chrX_96679842_97609997 | 96939668 | A | ATTTTTTT others(20): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0049 | 1 | 104 | 0.0096 | 27 | c.132 others(44): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 12/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DIAPH2_chrX_96679842_97609997 | 97570123 | T | TATATATA others(20): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0146 | 1 | 86 | 0.0116 | 27 | c.324 others(48): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 26/26 | chrX | TogoVar | |||||||
DIAPH3_chr13_59660583_60168928 | 59729810 | A | ATTTTTTT others(20): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 43 | 0.0233 | 27 | c.331 others(48): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 27/27 | chr13 | TogoVar | |||||||
DIAPH3_chr13_59660583_60168928 | 59762052 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG01070.hp1 NA19078.hp2 NA20129.hp1 |
a0001a0003 | a0001c0001a0001c0006a0003c0008 | a0001c0001t0001a0001c0006t0002a0003c0008t0001 | a0001c0001t0001g0174 a0001c0006t0002g0144 a0003c0008t0001g0111 |
3 | 79 | 0.0380 | 27 | c.331 others(48): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 27/27 | chr13 | TogoVar | |||||||
DIAPH3_chr13_59660583_60168928 | 60125394 | A | ATTTTTTT others(20): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 41 | 0.0244 | 27 | c.213 others(44): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 2/27 | chr13 | TogoVar | |||||||
DIAPH3_chr13_59660583_60168928 | 60156940 | T | TATATATA others(20): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0207 | 1 | 203 | 0.0049 | 27 | c.180 others(44): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 1/27 | chr13 | TogoVar | |||||||
DIDO1_chr20_62872743_62931505 | 62929693 | G | GTATATAA others(20): Show |
upstream_gene_variant | MODIFIER | NA18966.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0252 | 1 | 122 | 0.0082 | 27 | c.-34 others(38): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 3189 | chr20 | TogoVar | |||||||
DIDO1_chr20_62872743_62931505 | 62929706 | T | TATATATA others(20): Show |
upstream_gene_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 318 | 0.0031 | 27 | c.-34 others(38): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 3202 | chr20 | TogoVar | |||||||
DIMT1_chr5_62382254_62408905 | 62396139 | G | GTTTTTTT others(20): Show |
intron_variant | MODIFIER | NA18944.hp1 NA18944.hp2 NA18945.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019 a0001c0001t0002g0084 a0001c0001t0002g0107 others(1): Show |
6 | 129 | 0.0465 | 27 | c.447 others(44): Show |
DIMT1 | ENSG00000086189.11 | transcript | ENST00000199320.9 | protein_coding | 6/11 | chr5 | TogoVar | |||||||
DIP2A_chr21_46453891_46575015 | 46477543 | T | TTTGTGTG others(20): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0003 | a0003c0017 | a0003c0017t0001 | a0003c0017t0001g0143 | 1 | 82 | 0.0122 | 27 | c.92- others(42): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DIP2B_chr12_50499985_50753657 | 50501219 | C | CAAAAAAA others(20): Show |
upstream_gene_variant | MODIFIER | HG01192.hp1 HG01243.hp2 HG01978.hp2 others(8): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0011a0001c0001t0015a0001c0001t0016others(7): Show | a0001c0001t0011g0079 a0001c0001t0015g0075 a0001c0001t0016g0085 others(8): Show |
11 | 65 | 0.1692 | 27 | c.-39 others(38): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 3765 | chr12 | TogoVar | |||||||
DIP2B_chr12_50499985_50753657 | 50505001 | T | TGGCGGCG others(20): Show |
5_prime_UTR_variant | MODIFIER | HG01256.hp1 HG03239.hp1 |
a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0084 a0001c0001t0016g0085 |
2 | 246 | 0.0081 | 27 | c.-11 others(36): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/38 | 116 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DIP2B_chr12_50499985_50753657 | 50505022 | C | CGGCGGCG others(20): Show |
5_prime_UTR_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0095 | 1 | 282 | 0.0035 | 27 | c.-11 others(36): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/38 | 116 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DIP2B_chr12_50499985_50753657 | 50593769 | T | TCCCCTCC others(20): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0269 | 1 | 245 | 0.0041 | 27 | c.101 others(46): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DIP2B_chr12_50499985_50753657 | 50593894 | C | CCCTCTCC others(20): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0067 | 1 | 281 | 0.0036 | 27 | c.101 others(46): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 478315 | A | AGGGGAGG others(20): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0030 | 1 | 85 | 0.0118 | 27 | c.158 others(44): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 528340 | A | AGCAGACC others(20): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0009 | a0001c0009t0003 | a0001c0009t0003g0003 | 1 | 88 | 0.0114 | 27 | c.86- others(44): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 557836 | A | AGGCAGGC others(20): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 88 | 0.0114 | 27 | c.86- others(44): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 608602 | C | CCCACACA others(20): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0054 | 1 | 63 | 0.0159 | 27 | c.85+ others(44): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | |||||||
DIPK1A_chr1_92837167_92966462 | 92959902 | A | ATTTTTTT others(20): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 166 | 0.0060 | 27 | c.54+ others(42): Show |
DIPK1A | ENSG00000154511.12 | transcript | ENST00000370310.5 | protein_coding | 1/4 | chr1 | TogoVar | |||||||
DIS3L2_chr2_231956713_232342192 | 232012490 | T | TGTTTTTG others(20): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0018 | a0001c0018t0001 | a0001c0018t0001g0006 | 1 | 302 | 0.0033 | 27 | c.-93 others(44): Show |
DIS3L2 | ENSG00000144535.20 | transcript | ENST00000325385.12 | protein_coding | 1/20 | chr2 | TogoVar | |||||||
DIS3L2_chr2_231956713_232342192 | 232333176 | G | GCCTCCTC others(20): Show |
intron_variant | MODIFIER | HG01257.hp2 HG03098.hp2 |
a0001a0002 | a0001c0001a0002c0008 | a0001c0001t0001a0002c0008t0002 | a0001c0001t0001g0193 a0002c0008t0002g0195 |
2 | 68 | 0.0294 | 27 | c.201 others(44): Show |
DIS3L2 | ENSG00000144535.20 | transcript | ENST00000325385.12 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DIS3L2_chr2_231956713_232342192 | 232333191 | T | TCCTCCTC others(20): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0287 | 1 | 302 | 0.0033 | 27 | c.201 others(44): Show |
DIS3L2 | ENSG00000144535.20 | transcript | ENST00000325385.12 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DIS3L_chr15_66288568_66338898 | 66309094 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0098 | 1 | 11 | 0.0909 | 27 | c.558 others(42): Show |
DIS3L | ENSG00000166938.13 | transcript | ENST00000319212.9 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
DISC1_chr1_231621790_232046272 | 231804503 | G | GCTGGGTA others(20): Show |
intron_variant | MODIFIER | HG02155.hp1 HG02273.hp1 NA18971.hp2 others(2): Show |
a0001a0002a0006 | a0001c0005a0002c0004a0006c0010 | a0001c0005t0011a0002c0004t0003a0002c0004t0004others(1): Show | a0001c0005t0011g0023 a0002c0004t0003g0026 a0002c0004t0003g0028 others(2): Show |
5 | 38 | 0.1316 | 27 | c.179 others(46): Show |
DISC1 | ENSG00000162946.24 | transcript | ENST00000439617.8 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DISP1_chr1_222810039_223010995 | 222936835 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00544.hp1 others(62): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0001c0006others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(7): Show | a0001c0001t0001g0053 a0001c0001t0001g0072 a0001c0001t0001g0096 others(62): Show |
65 | 224 | 0.2902 | 27 | c.-17 others(44): Show |
DISP1 | ENSG00000154309.9 | transcript | ENST00000675850.1 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DISP1_chr1_222810039_223010995 | 222969370 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02080.hp2 HG02976.hp2 HG03654.hp1 others(6): Show |
a0001a0002a0025 | a0001c0002a0002c0003a0025c0032 | a0001c0002t0001a0002c0003t0001a0025c0032t0001 | a0001c0002t0001g0223 a0001c0002t0001g0307 a0002c0003t0001g0082 others(6): Show |
9 | 20 | 0.4500 | 27 | c.510 others(46): Show |
DISP1 | ENSG00000154309.9 | transcript | ENST00000675850.1 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DISP2_chr15_40353219_40383621 | 40358244 | T | TGCCGCCG others(20): Show |
5_prime_UTR_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0003 | 1 | 365 | 0.0027 | 27 | c.-69 others(34): Show |
DISP2 | ENSG00000140323.6 | transcript | ENST00000267889.5 | protein_coding | 1/8 | 42 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
DISP2_chr15_40353219_40383621 | 40374014 | A | AAAAAAAA others(20): Show |
3_prime_UTR_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0003 | a0001c0003t0156 | a0001c0003t0156g0003 | 1 | 146 | 0.0068 | 27 | c.*36 others(38): Show |
DISP2 | ENSG00000140323.6 | transcript | ENST00000267889.5 | protein_coding | 8/8 | 3698 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
DIXDC1_chr11_111932343_112027653 | 111950438 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0216 | 1 | 165 | 0.0061 | 27 | c.60+ others(44): Show |
DIXDC1 | ENSG00000150764.14 | transcript | ENST00000440460.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |