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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CYP4Z1_chr1_47062231_47123318 | 47110125 | C | CAAAAACA others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(217): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0005a0001c0010others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0010 others(175): Show |
220 | 318 | 0.6918 | 8 | c.120 others(27): Show |
CYP4Z1 | ENSG00000186160.5 | transcript | ENST00000334194.4 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CYP51A1_chr7_92107153_92139477 | 92111998 | A | AATACTGC others(1): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG00642.hp1 others(107): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0009 | a0001c0001t0006a0001c0001t0013a0001c0002t0002others(4): Show | a0001c0001t0006g0029 a0001c0001t0006g0062 a0001c0001t0006g0067 others(52): Show |
110 | 392 | 0.2806 | 8 | c.*16 others(19): Show |
CYP51A1 | ENSG00000001630.18 | transcript | ENST00000003100.13 | protein_coding | 154 | chr7 | TogoVar | |||||||
CYP51A1_chr7_92107153_92139477 | 92128428 | C | CTCTGTGT others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02071.hp1 HG02451.hp2 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0026 a0001c0002t0002g0045 a0001c0002t0002g0046 others(4): Show |
11 | 392 | 0.0281 | 8 | c.468 others(23): Show |
CYP51A1 | ENSG00000001630.18 | transcript | ENST00000003100.13 | protein_coding | 3/9 | chr7 | TogoVar | |||||||
CYP51A1_chr7_92107153_92139477 | 92128428 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00597.hp2 HG04184.hp1 NA18945.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0012 a0001c0001t0003g0052 a0001c0001t0003g0150 others(2): Show |
11 | 392 | 0.0281 | 8 | c.468 others(23): Show |
CYP51A1 | ENSG00000001630.18 | transcript | ENST00000003100.13 | protein_coding | 3/9 | chr7 | TogoVar | |||||||
CYP51A1_chr7_92107153_92139477 | 92136536 | A | ATATATAT others(1): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 HG01884.hp1 HG02615.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006 | a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0028 others(5): Show |
21 | 392 | 0.0536 | 8 | c.-21 others(19): Show |
CYP51A1 | ENSG00000001630.18 | transcript | ENST00000003100.13 | protein_coding | 2060 | chr7 | TogoVar | |||||||
CYP7B1_chr8_64585851_64803737 | 64618570 | T | TTCTCTCT others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00438.hp1 others(112): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(36): Show | a0001c0001t0001g0220 a0001c0001t0004g0036 a0001c0001t0004g0067 others(112): Show |
115 | 258 | 0.4457 | 8 | c.260 others(25): Show |
CYP7B1 | ENSG00000172817.4 | transcript | ENST00000310193.4 | protein_coding | 2/5 | chr8 | TogoVar | |||||||
CYP7B1_chr8_64585851_64803737 | 64677813 | T | TTAGCATA others(1): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG02257.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0009a0001c0001t0013a0001c0001t0019others(3): Show | a0001c0001t0009g0093 a0001c0001t0009g0230 a0001c0001t0013g0022 others(11): Show |
14 | 258 | 0.0543 | 8 | c.123 others(27): Show |
CYP7B1 | ENSG00000172817.4 | transcript | ENST00000310193.4 | protein_coding | 1/5 | chr8 | TogoVar | |||||||
CYP7B1_chr8_64585851_64803737 | 64730751 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00741.hp1 HG01106.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(10): Show | a0001c0001t0001g0129 a0001c0001t0001g0163 a0001c0001t0001g0194 others(22): Show |
25 | 258 | 0.0969 | 8 | c.122 others(27): Show |
CYP7B1 | ENSG00000172817.4 | transcript | ENST00000310193.4 | protein_coding | 1/5 | chr8 | TogoVar | |||||||
CYP7B1_chr8_64585851_64803737 | 64778174 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02451.hp1 HG02622.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(4): Show | a0001c0001t0001g0226 a0001c0001t0003g0225 a0001c0001t0008g0223 others(5): Show |
8 | 258 | 0.0310 | 8 | c.122 others(27): Show |
CYP7B1 | ENSG00000172817.4 | transcript | ENST00000310193.4 | protein_coding | 1/5 | chr8 | TogoVar | |||||||
CYREN_chr7_135160785_135175707 | 135172470 | G | GAAAAAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(63): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0024 others(20): Show |
66 | 406 | 0.1626 | 8 | c.-19 others(19): Show |
CYREN | ENSG00000122783.17 | transcript | ENST00000393114.8 | protein_coding | 1764 | chr7 | TogoVar | |||||||
CYRIA_chr2_16544459_16670834 | 16575878 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00733.hp2 others(61): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0016 a0001c0001t0001g0034 a0001c0001t0001g0038 others(60): Show |
64 | 290 | 0.2207 | 8 | c.71- others(25): Show |
CYRIA | ENSG00000197872.11 | transcript | ENST00000381323.7 | protein_coding | 3/11 | chr2 | TogoVar | |||||||
CYRIA_chr2_16544459_16670834 | 16579419 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00738.hp1 HG01070.hp2 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0004 a0001c0001t0001g0021 a0001c0001t0001g0040 others(29): Show |
36 | 290 | 0.1241 | 8 | c.70+ others(23): Show |
CYRIA | ENSG00000197872.11 | transcript | ENST00000381323.7 | protein_coding | 3/11 | chr2 | TogoVar | |||||||
CYRIA_chr2_16544459_16670834 | 16590068 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03516.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0025 a0001c0001t0003g0029 a0001c0001t0003g0225 |
3 | 290 | 0.0103 | 8 | c.-10 others(25): Show |
CYRIA | ENSG00000197872.11 | transcript | ENST00000381323.7 | protein_coding | 2/11 | chr2 | TogoVar | |||||||
CYRIA_chr2_16544459_16670834 | 16610897 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00597.hp2 HG01070.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0052 a0001c0001t0001g0088 a0001c0001t0001g0139 others(10): Show |
13 | 290 | 0.0448 | 8 | c.-11 others(27): Show |
CYRIA | ENSG00000197872.11 | transcript | ENST00000381323.7 | protein_coding | 2/11 | chr2 | TogoVar | |||||||
CYRIB_chr8_129834593_130021560 | 129905201 | G | GGATTGAT others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00735.hp2 HG01256.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0018 | a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0043 others(11): Show |
14 | 288 | 0.0486 | 8 | c.-13 others(25): Show |
CYRIB | ENSG00000153310.22 | transcript | ENST00000694912.1 | protein_coding | 2/13 | chr8 | TogoVar | |||||||
CYSLTR2_chr13_48648929_48716226 | 48687760 | T | TTAAACAA others(1): Show |
intron_variant | MODIFIER | HG02970.hp1 HG03098.hp2 HG03130.hp1 others(2): Show |
a0003 | a0003c0003 | a0003c0003t0007 | a0003c0003t0007g0115 a0003c0003t0007g0116 a0003c0003t0007g0117 others(2): Show |
5 | 318 | 0.0157 | 8 | c.-26 others(27): Show |
CYSLTR2 | ENSG00000152207.8 | transcript | ENST00000682523.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CYSLTR2_chr13_48648929_48716226 | 48695068 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00609.hp2 HG00735.hp2 others(14): Show |
a0001a0010 | a0001c0001a0010c0014 | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(2): Show | a0001c0001t0002g0076 a0001c0001t0006g0027 a0001c0001t0006g0112 others(10): Show |
17 | 318 | 0.0535 | 8 | c.-10 others(27): Show |
CYSLTR2 | ENSG00000152207.8 | transcript | ENST00000682523.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CYSLTR2_chr13_48648929_48716226 | 48695391 | T | TTCTTTCT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00609.hp1 others(105): Show |
a0001a0009 | a0001c0001a0009c0013 | a0001c0001t0002a0001c0001t0003a0001c0001t0015others(5): Show | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0011 others(90): Show |
108 | 318 | 0.3396 | 8 | c.-10 others(27): Show |
CYSLTR2 | ENSG00000152207.8 | transcript | ENST00000682523.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CYSTM1_chr5_140170188_140248789 | 140200557 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01106.hp1 HG01109.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0115 others(23): Show |
26 | 324 | 0.0803 | 8 | c.187 others(25): Show |
CYSTM1 | ENSG00000120306.11 | transcript | ENST00000261811.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CYSTM1_chr5_140170188_140248789 | 140206607 | G | GTTGTTTG others(1): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG01928.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0226 others(8): Show |
11 | 324 | 0.0340 | 8 | c.187 others(27): Show |
CYSTM1 | ENSG00000120306.11 | transcript | ENST00000261811.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CYSTM1_chr5_140170188_140248789 | 140226586 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01109.hp2 HG02258.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0035 a0001c0001t0001g0045 a0001c0001t0002g0141 others(7): Show |
10 | 324 | 0.0309 | 8 | c.188 others(27): Show |
CYSTM1 | ENSG00000120306.11 | transcript | ENST00000261811.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CYTH1_chr17_78669048_78787273 | 78690393 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG02027.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0008 | a0001c0001t0002g0011 a0001c0001t0002g0253 a0001c0001t0002g0307 others(5): Show |
8 | 378 | 0.0212 | 8 | c.891 others(25): Show |
CYTH1 | ENSG00000108669.18 | transcript | ENST00000446868.8 | protein_coding | 11/13 | chr17 | TogoVar | |||||||
CYTH1_chr17_78669048_78787273 | 78701170 | G | GACAGGTT others(1): Show |
intron_variant | MODIFIER | HG02109.hp2 HG03209.hp2 HG03225.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0357 a0001c0002t0010g0358 a0001c0002t0010g0359 others(1): Show |
4 | 378 | 0.0106 | 8 | c.437 others(23): Show |
CYTH1 | ENSG00000108669.18 | transcript | ENST00000446868.8 | protein_coding | 6/13 | chr17 | TogoVar | |||||||
CYTH1_chr17_78669048_78787273 | 78712076 | A | AGAAAGAA others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00558.hp1 HG01074.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0031 | a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0067 others(27): Show |
30 | 378 | 0.0794 | 8 | c.23- others(23): Show |
CYTH1 | ENSG00000108669.18 | transcript | ENST00000446868.8 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
CYTH1_chr17_78669048_78787273 | 78718218 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG02165.hp2 HG02965.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0065 a0001c0001t0003g0077 a0001c0001t0003g0079 others(5): Show |
8 | 378 | 0.0212 | 8 | c.23- others(23): Show |
CYTH1 | ENSG00000108669.18 | transcript | ENST00000446868.8 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
CYTH1_chr17_78669048_78787273 | 78753529 | A | ATAAATAA others(1): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03834.hp1 HG03927.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0009 | a0001c0001t0005g0030 a0001c0001t0005g0042 a0001c0001t0009g0047 |
3 | 378 | 0.0079 | 8 | c.22+ others(25): Show |
CYTH1 | ENSG00000108669.18 | transcript | ENST00000446868.8 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
CYTH1_chr17_78669048_78787273 | 78755491 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02451.hp1 HG02572.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0181 a0001c0001t0001g0189 a0001c0001t0003g0370 others(4): Show |
7 | 378 | 0.0185 | 8 | c.22+ others(25): Show |
CYTH1 | ENSG00000108669.18 | transcript | ENST00000446868.8 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
CYTH3_chr7_6156779_6277624 | 6179780 | C | CCCCACAC others(1): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02630.hp2 HG02895.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0018a0001c0001t0019 | a0001c0001t0014g0213 a0001c0001t0014g0214 a0001c0001t0014g0215 others(3): Show |
6 | 348 | 0.0172 | 8 | c.250 others(25): Show |
CYTH3 | ENSG00000008256.17 | transcript | ENST00000350796.8 | protein_coding | 4/12 | chr7 | TogoVar | |||||||
CYTH3_chr7_6156779_6277624 | 6269588 | A | AGTAGAGA others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00423.hp2 others(297): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(51): Show | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0014 others(297): Show |
300 | 348 | 0.8621 | 8 | c.34+ others(23): Show |
CYTH3 | ENSG00000008256.17 | transcript | ENST00000350796.8 | protein_coding | 1/12 | chr7 | TogoVar | |||||||
CYTH4_chr22_37277508_37320341 | 37282283 | C | CCGTTTGT others(1): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(93): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0009others(16): Show | a0001c0001t0004g0016 a0001c0001t0004g0030 a0001c0001t0004g0032 others(82): Show |
96 | 404 | 0.2376 | 8 | c.-28 others(17): Show |
CYTH4 | ENSG00000100055.21 | transcript | ENST00000248901.11 | protein_coding | 224 | chr22 | TogoVar | |||||||
CYTIP_chr2_157409619_157449089 | 157414581 | C | CAGAGAGA others(1): Show |
downstream_gene_variant | MODIFIER | HG02630.hp1 NA18986.hp2 NA19030.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0114 a0001c0001t0001g0273 a0002c0002t0001g0223 |
3 | 320 | 0.0094 | 8 | c.*10 others(19): Show |
CYTIP | ENSG00000115165.10 | transcript | ENST00000264192.8 | protein_coding | 37 | chr2 | TogoVar | |||||||
CYTIP_chr2_157409619_157449089 | 157434849 | T | TCTCTCTC others(1): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01256.hp1 HG01943.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0030 |
6 | 320 | 0.0188 | 8 | c.175 others(23): Show |
CYTIP | ENSG00000115165.10 | transcript | ENST00000264192.8 | protein_coding | 1/7 | chr2 | TogoVar | |||||||
CYTIP_chr2_157409619_157449089 | 157445477 | G | GGTGTGTG others(1): Show |
upstream_gene_variant | MODIFIER | HG01099.hp2 HG01168.hp1 HG01256.hp2 others(35): Show |
a0001a0002a0006 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0011 a0001c0001t0001g0056 a0001c0001t0001g0057 others(32): Show |
38 | 320 | 0.1188 | 8 | c.-14 others(19): Show |
CYTIP | ENSG00000115165.10 | transcript | ENST00000264192.8 | protein_coding | 1389 | chr2 | TogoVar | |||||||
CYYR1_chr21_26461216_26578286 | 26476585 | C | CATCTATC others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(74): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0052 a0001c0001t0001g0077 a0001c0001t0001g0107 others(73): Show |
77 | 316 | 0.2437 | 8 | c.334 others(25): Show |
CYYR1 | ENSG00000166265.13 | transcript | ENST00000652641.2 | protein_coding | 3/3 | chr21 | TogoVar | |||||||
CYYR1_chr21_26461216_26578286 | 26488240 | A | ACTTACTT others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00738.hp1 HG01099.hp1 others(10): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0084 a0001c0001t0001g0097 a0001c0001t0001g0103 others(10): Show |
13 | 316 | 0.0411 | 8 | c.177 others(25): Show |
CYYR1 | ENSG00000166265.13 | transcript | ENST00000652641.2 | protein_coding | 2/3 | chr21 | TogoVar | |||||||
CYYR1_chr21_26461216_26578286 | 26488240 | A | ACTTCCTT others(1): Show |
intron_variant | MODIFIER | HG01496.hp1 HG01496.hp2 HG01515.hp2 others(38): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0052 a0001c0001t0001g0117 a0001c0001t0001g0199 others(38): Show |
41 | 316 | 0.1298 | 8 | c.177 others(25): Show |
CYYR1 | ENSG00000166265.13 | transcript | ENST00000652641.2 | protein_coding | 2/3 | chr21 | TogoVar | |||||||
CYYR1_chr21_26461216_26578286 | 26504224 | G | GTATTTAT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00544.hp2 others(44): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0002t0001others(10): Show | a0001c0001t0002g0291 a0001c0001t0005g0018 a0001c0001t0005g0099 others(42): Show |
47 | 316 | 0.1487 | 8 | c.177 others(27): Show |
CYYR1 | ENSG00000166265.13 | transcript | ENST00000652641.2 | protein_coding | 2/3 | chr21 | TogoVar | |||||||
CYYR1_chr21_26461216_26578286 | 26511987 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(60): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0027 a0001c0001t0001g0042 a0001c0001t0001g0052 others(60): Show |
63 | 316 | 0.1994 | 8 | c.177 others(27): Show |
CYYR1 | ENSG00000166265.13 | transcript | ENST00000652641.2 | protein_coding | 2/3 | chr21 | TogoVar | |||||||
CYYR1_chr21_26461216_26578286 | 26542284 | T | TGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02622.hp1 HG02622.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(5): Show | a0001c0001t0001g0017 a0001c0001t0002g0200 a0001c0001t0009g0304 others(6): Show |
9 | 316 | 0.0285 | 8 | c.176 others(27): Show |
CYYR1 | ENSG00000166265.13 | transcript | ENST00000652641.2 | protein_coding | 2/3 | chr21 | TogoVar | |||||||
CYYR1_chr21_26461216_26578286 | 26562799 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00738.hp2 HG01168.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0290 others(25): Show |
28 | 316 | 0.0886 | 8 | c.176 others(25): Show |
CYYR1 | ENSG00000166265.13 | transcript | ENST00000652641.2 | protein_coding | 2/3 | chr21 | TogoVar | |||||||
CZIB_chr1_53209099_53225634 | 53224830 | T | TATAGATA others(1): Show |
upstream_gene_variant | MODIFIER | HG02630.hp2 NA18944.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0019 a0001c0001t0002g0032 |
3 | 436 | 0.0069 | 8 | c.-42 others(19): Show |
CZIB | ENSG00000162384.14 | transcript | ENST00000294360.5 | protein_coding | 4197 | chr1 | TogoVar | |||||||
CZIB_chr1_53209099_53225634 | 53224836 | T | TAGACAGA others(1): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 HG02083.hp2 HG02145.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(1): Show |
7 | 436 | 0.0161 | 8 | c.-42 others(19): Show |
CZIB | ENSG00000162384.14 | transcript | ENST00000294360.5 | protein_coding | 4203 | chr1 | TogoVar | |||||||
CZIB_chr1_53209099_53225634 | 53224840 | T | TAGACAGA others(1): Show |
upstream_gene_variant | MODIFIER | HG00621.hp1 HG01074.hp1 HG01168.hp2 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(7): Show |
39 | 436 | 0.0895 | 8 | c.-42 others(19): Show |
CZIB | ENSG00000162384.14 | transcript | ENST00000294360.5 | protein_coding | 4207 | chr1 | TogoVar | |||||||
CZIB_chr1_53209099_53225634 | 53224840 | T | TAGATAGA others(1): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0015 |
20 | 436 | 0.0459 | 8 | c.-42 others(19): Show |
CZIB | ENSG00000162384.14 | transcript | ENST00000294360.5 | protein_coding | 4207 | chr1 | TogoVar | |||||||
D2HGDH_chr2_241729630_241773811 | 241758767 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00609.hp1 others(21): Show |
a0001a0002a0004others(4): Show | a0001c0001a0002c0002a0002c0009others(6): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(13): Show | a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0121 others(19): Show |
24 | 412 | 0.0583 | 8 | c.130 others(27): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
D2HGDH_chr2_241729630_241773811 | 241758769 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00621.hp1 HG00639.hp1 others(55): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0013a0002c0002others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0001g0069 a0001c0001t0001g0128 a0001c0001t0001g0169 others(52): Show |
58 | 412 | 0.1408 | 8 | c.130 others(27): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DAAM1_chr14_59183667_59376403 | 59192149 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00733.hp2 HG02040.hp2 HG03710.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0288 a0001c0002t0001g0173 a0001c0002t0001g0174 |
3 | 298 | 0.0101 | 8 | c.-38 others(25): Show |
DAAM1 | ENSG00000100592.16 | transcript | ENST00000360909.8 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DAAM1_chr14_59183667_59376403 | 59194132 | T | TGATGTTG others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(136): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(42): Show | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0002g0154 others(136): Show |
139 | 298 | 0.4664 | 8 | c.-38 others(25): Show |
DAAM1 | ENSG00000100592.16 | transcript | ENST00000360909.8 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DAAM1_chr14_59183667_59376403 | 59272643 | A | ATATGTAT others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(85): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0003a0001c0002t0001a0001c0002t0002others(24): Show | a0001c0001t0003g0278 a0001c0002t0001g0041 a0001c0002t0001g0099 others(85): Show |
88 | 298 | 0.2953 | 8 | c.183 others(25): Show |
DAAM1 | ENSG00000100592.16 | transcript | ENST00000360909.8 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DAAM1_chr14_59183667_59376403 | 59289767 | G | GATATATA others(1): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01433.hp2 HG01884.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0005 | a0001c0001t0003a0001c0001t0027a0001c0001t0029others(6): Show | a0001c0001t0003g0002 a0001c0001t0003g0180 a0001c0001t0003g0181 others(15): Show |
19 | 298 | 0.0638 | 8 | c.184 others(25): Show |
DAAM1 | ENSG00000100592.16 | transcript | ENST00000360909.8 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar |