| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CWC27_chr5_64763930_65023750 | 64878470 | TAAAAAAA others(7): Show |
T | intron_variant | MODIFIER | HG01978.hp2 HG03927.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116a0001c0001t0001g0121 | 2 | 260 | 0.0077 | -14 | c.939 others(31): Show |
CWC27 | ENSG00000153015.17 | transcript | ENST00000381070.8 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CWC27_chr5_64763930_65023750 | 64970958 | AGTGTGTG others(7): Show |
A | intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0257 | 1 | 260 | 0.0039 | -14 | c.104 others(31): Show |
CWC27 | ENSG00000153015.17 | transcript | ENST00000381070.8 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CWC27_chr5_64763930_65023750 | 65004861 | CATATATA others(7): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp2 HG01243.hp1 others(12): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0180a0001c0001t0001g0188a0001c0001t0001g0212others(12): Show | 15 | 260 | 0.0577 | -14 | c.125 others(35): Show |
CWC27 | ENSG00000153015.17 | transcript | ENST00000381070.8 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CWC27_chr5_64763930_65023750 | 65004897 | TATATATA others(7): Show |
T | intron_variant | MODIFIER | HG02717.hp2 | a0004 | a0004c0009 | a0004c0009t0001 | a0004c0009t0001g0229 | 1 | 260 | 0.0039 | -14 | c.125 others(35): Show |
CWC27 | ENSG00000153015.17 | transcript | ENST00000381070.8 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CWF19L1_chr10_100227298_100272638 | 100228987 | GCGCGCGC others(7): Show |
G | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02451.hp2 NA20129.hp1 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0276a0002c0003t0002g0277a0002c0003t0002g0278 | 3 | 364 | 0.0082 | -14 | c.*42 others(25): Show |
CWF19L1 | ENSG00000095485.18 | transcript | ENST00000354105.10 | protein_coding | 3310 | chr10 | TogoVar | ||||||
| CWF19L2_chr11_107321360_107462825 | 107330644 | CCACACAC others(7): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(70): Show |
a0002a0010 | a0002c0002a0002c0010a0010c0008 | a0002c0002t0003a0002c0002t0008a0002c0010t0003others(1): Show | a0002c0002t0003g0002a0002c0002t0003g0003a0002c0002t0003g0009others(68): Show | 73 | 392 | 0.1862 | -14 | c.244 others(31): Show |
CWF19L2 | ENSG00000152404.16 | transcript | ENST00000282251.10 | protein_coding | 16/17 | chr11 | TogoVar | ||||||
| CWF19L2_chr11_107321360_107462825 | 107337367 | TTGTGTGT others(7): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(109): Show |
a0001a0002a0012 | a0001c0001a0001c0011a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0011t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0026others(108): Show | 112 | 392 | 0.2857 | -14 | c.220 others(31): Show |
CWF19L2 | ENSG00000152404.16 | transcript | ENST00000282251.10 | protein_coding | 14/17 | chr11 | TogoVar | ||||||
| CWF19L2_chr11_107321360_107462825 | 107402869 | GTGTGTAT others(7): Show |
G | intron_variant | MODIFIER | HG02572.hp2 HG02895.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0008a0001c0001t0006g0318a0001c0001t0006g0320 | 3 | 392 | 0.0077 | -14 | c.161 others(33): Show |
CWF19L2 | ENSG00000152404.16 | transcript | ENST00000282251.10 | protein_coding | 10/17 | chr11 | TogoVar | ||||||
| CWF19L2_chr11_107321360_107462825 | 107425179 | AACACACA others(7): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02109.hp2 HG02280.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0003 | a0001c0001t0002g0358a0002c0002t0003g0353a0002c0002t0003g0354others(7): Show | 10 | 392 | 0.0255 | -14 | c.143 others(33): Show |
CWF19L2 | ENSG00000152404.16 | transcript | ENST00000282251.10 | protein_coding | 8/17 | chr11 | TogoVar | ||||||
| CWF19L2_chr11_107321360_107462825 | 107433880 | TTATATAT others(7): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG00733.hp1 HG00741.hp2 others(13): Show |
a0004a0006a0008others(1): Show | a0004c0004a0006c0006a0008c0009others(1): Show | a0004c0004t0002a0006c0006t0003a0008c0009t0002others(1): Show | a0004c0004t0002g0326a0004c0004t0002g0327a0004c0004t0002g0335others(12): Show | 16 | 392 | 0.0408 | -14 | c.665 others(29): Show |
CWF19L2 | ENSG00000152404.16 | transcript | ENST00000282251.10 | protein_coding | 6/17 | chr11 | TogoVar | ||||||
| CWF19L2_chr11_107321360_107462825 | 107438171 | ATCCTACT others(7): Show |
A | intron_variant | MODIFIER | HG03490.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0009 | 1 | 392 | 0.0026 | -14 | c.664 others(29): Show |
CWF19L2 | ENSG00000152404.16 | transcript | ENST00000282251.10 | protein_coding | 6/17 | chr11 | TogoVar | ||||||
| CWF19L2_chr11_107321360_107462825 | 107460485 | TTATATAT others(7): Show |
T | upstream_gene_variant | MODIFIER | HG00735.hp2 HG01106.hp2 HG01891.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0003 | a0001c0001t0002g0352a0002c0002t0003g0161a0002c0002t0003g0168others(3): Show | 6 | 392 | 0.0153 | -14 | c.-26 others(25): Show |
CWF19L2 | ENSG00000152404.16 | transcript | ENST00000282251.10 | protein_coding | 2661 | chr11 | TogoVar | ||||||
| CWH43_chr4_48981275_49067079 | 49039306 | GATATATA others(7): Show |
G | intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 296 | 0.0034 | -14 | c.180 others(33): Show |
CWH43 | ENSG00000109182.12 | transcript | ENST00000226432.9 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| CX3CR1_chr3_39258496_39285036 | 39283795 | TTATATAT others(7): Show |
T | upstream_gene_variant | MODIFIER | HG01952.hp2 HG02109.hp2 HG02965.hp1 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0002a0003c0003t0002 | a0001c0001t0001g0001a0002c0002t0002g0037a0003c0003t0002g0018 | 4 | 420 | 0.0095 | -14 | c.-38 others(25): Show |
CX3CR1 | ENSG00000168329.14 | transcript | ENST00000399220.3 | protein_coding | 3760 | chr3 | TogoVar | ||||||
| CXADR_chr21_17508043_17575100 | 17529034 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00609.hp1 HG00673.hp2 others(19): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0010 | a0001c0001t0019a0001c0002t0004a0001c0002t0020others(7): Show | a0001c0001t0019g0331a0001c0002t0004g0322a0001c0002t0004g0324others(19): Show | 22 | 352 | 0.0625 | -14 | c.43+ others(31): Show |
CXADR | ENSG00000154639.19 | transcript | ENST00000284878.12 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| CXADR_chr21_17508043_17575100 | 17565282 | GACACACA others(7): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(147): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0003c0010others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0012others(37): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0009others(146): Show | 150 | 352 | 0.4261 | -14 | c.834 others(29): Show |
CXADR | ENSG00000154639.19 | transcript | ENST00000284878.12 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| CXADR_chr21_17508043_17575100 | 17574996 | CACACATA others(7): Show |
C | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02615.hp1 HG02970.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0011 | a0001c0001t0001a0001c0001t0005a0001c0002t0061others(2): Show | a0001c0001t0001g0271a0001c0001t0005g0034a0001c0002t0061g0014others(2): Show | 5 | 352 | 0.0142 | -14 | c.*93 others(25): Show |
CXADR | ENSG00000154639.19 | transcript | ENST00000284878.12 | protein_coding | 4897 | chr21 | TogoVar | ||||||
| CXCL14_chr5_135565679_135583991 | 135571742 | CTTTTTTT others(7): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00597.hp1 HG03041.hp1 HG03139.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0037a0001c0001t0021g0066a0001c0001t0021g0078 | 4 | 402 | 0.0100 | -14 | c.*97 others(22): Show |
CXCL14 | ENSG00000145824.13 | transcript | ENST00000512158.6 | protein_coding | 4/4 | 97 | chr5 | TogoVar | |||||
| CXCL1_chr4_73864393_73876308 | 73867751 | TATATAAA others(7): Show |
T | upstream_gene_variant | MODIFIER | HG01106.hp2 NA19240.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0004a0001c0002t0002g0001 | 2 | 448 | 0.0045 | -14 | c.-17 others(25): Show |
CXCL1 | ENSG00000163739.5 | transcript | ENST00000395761.4 | protein_coding | 1641 | chr4 | TogoVar | ||||||
| CXCL2_chr4_74092040_74104195 | 74099784 | CGTGTGTG others(7): Show |
C | upstream_gene_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 398 | 0.0025 | -14 | c.-67 others(23): Show |
CXCL2 | ENSG00000081041.9 | transcript | ENST00000508487.3 | protein_coding | 590 | chr4 | TogoVar | ||||||
| CXorf49B_chrX_71758349_71772204 | 71759395 | CGCGCGTG others(7): Show |
C | upstream_gene_variant | MODIFIER | HG00642.hp1 HG03927.hp2 HG04204.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001a0002c0002t0001g0001 | 4 | 95 | 0.0421 | -14 | c.-40 others(25): Show |
CXorf49B | ENSG00000215113.7 | transcript | ENST00000542739.3 | protein_coding | 3953 | chrX | TogoVar | ||||||
| CXorf49B_chrX_71758349_71772204 | 71759424 | GCACACAC others(7): Show |
G | upstream_gene_variant | MODIFIER | HG03225.hp1 | a0008 | a0008c0008 | a0008c0008t0001 | a0008c0008t0001g0006 | 1 | 95 | 0.0105 | -14 | c.-39 others(25): Show |
CXorf49B | ENSG00000215113.7 | transcript | ENST00000542739.3 | protein_coding | 3924 | chrX | TogoVar | ||||||
| CXorf58_chrX_23903006_23944509 | 23937402 | CTTTTCTT others(7): Show |
C | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 295 | 0.0034 | -14 | c.786 others(31): Show |
CXorf58 | ENSG00000165182.12 | transcript | ENST00000379211.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| CYB5B_chr16_69419619_69471264 | 69440745 | CGTGTGTG others(7): Show |
C | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074a0001c0001t0001g0075 | 2 | 406 | 0.0049 | -14 | c.175 others(31): Show |
CYB5B | ENSG00000103018.18 | transcript | ENST00000307892.13 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CYB5D1_chr17_7853003_7867282 | 7866253 | ATTTTTTT others(7): Show |
A | downstream_gene_variant | MODIFIER | HG01975.hp2 HG01978.hp2 HG02293.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0001a0001c0001t0012g0001 | 25 | 440 | 0.0568 | -14 | c.*66 others(25): Show |
CYB5D1 | ENSG00000182224.12 | transcript | ENST00000332439.5 | protein_coding | 3972 | chr17 | TogoVar | ||||||
| CYB5R3_chr22_42612840_42654392 | 42650371 | ATCTTTTT others(7): Show |
A | upstream_gene_variant | MODIFIER | HG01433.hp1 HG01891.hp2 HG02809.hp1 others(3): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0031a0001c0003t0002a0002c0002t0031others(3): Show | a0001c0001t0031g0319a0001c0003t0002g0040a0002c0002t0031g0315others(3): Show | 6 | 360 | 0.0167 | -14 | c.-10 others(25): Show |
CYB5R3 | ENSG00000100243.22 | transcript | ENST00000352397.10 | protein_coding | 980 | chr22 | TogoVar | ||||||
| CYB5R4_chr6_83854689_83972423 | 83898053 | TGTTTTTA others(7): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG02257.hp1 HG02257.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007a0001c0001t0008others(6): Show | a0001c0001t0004g0003a0001c0001t0004g0016a0001c0001t0004g0017others(14): Show | 18 | 228 | 0.0790 | -14 | c.330 others(31): Show |
CYB5R4 | ENSG00000065615.14 | transcript | ENST00000369681.10 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CYBB_chrX_37775059_37818461 | 37779487 | TTATATAT others(7): Show |
T | upstream_gene_variant | MODIFIER | HG03453.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0138a0001c0001t0010g0139 | 2 | 246 | 0.0081 | -14 | c.-59 others(23): Show |
CYBB | ENSG00000165168.9 | transcript | ENST00000378588.5 | protein_coding | 571 | chrX | TogoVar | ||||||
| CYBB_chrX_37775059_37818461 | 37795890 | ATGTGTGT others(7): Show |
A | intron_variant | MODIFIER | HG02622.hp2 HG02647.hp1 HG02683.hp2 others(15): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(2): Show | a0001c0001t0001g0098a0001c0001t0002g0006a0001c0001t0002g0013others(10): Show | 18 | 246 | 0.0732 | -14 | c.484 others(27): Show |
CYBB | ENSG00000165168.9 | transcript | ENST00000378588.5 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| CYBRD1_chr2_171517474_171563129 | 171533844 | ACAGGTGT others(7): Show |
A | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0250 | 1 | 394 | 0.0025 | -14 | c.194 others(31): Show |
CYBRD1 | ENSG00000071967.12 | transcript | ENST00000321348.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CYCS_chr7_25113656_25130260 | 25114862 | CAAAAAAA others(7): Show |
C | downstream_gene_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 436 | 0.0023 | -14 | c.*88 others(25): Show |
CYCS | ENSG00000172115.9 | transcript | ENST00000305786.7 | protein_coding | 3793 | chr7 | TogoVar | ||||||
| CYCS_chr7_25113656_25130260 | 25115620 | ATGTATAC others(7): Show |
A | downstream_gene_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 436 | 0.0023 | -14 | c.*80 others(25): Show |
CYCS | ENSG00000172115.9 | transcript | ENST00000305786.7 | protein_coding | 3035 | chr7 | TogoVar | ||||||
| CYFIP1_chr15_22862052_22985368 | 22938923 | TAAAAAAA others(7): Show |
T | intron_variant | MODIFIER | HG03209.hp1 HG03540.hp1 |
a0002a0003 | a0002c0004a0003c0027 | a0002c0004t0013a0003c0027t0013 | a0002c0004t0013g0094a0003c0027t0013g0078 | 2 | 342 | 0.0059 | -14 | c.795 others(29): Show |
CYFIP1 | ENSG00000273749.5 | transcript | ENST00000617928.5 | protein_coding | 8/30 | chr15 | TogoVar | ||||||
| CYFIP1_chr15_22862052_22985368 | 22950738 | GCGACCCG others(7): Show |
G | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0268 | 1 | 342 | 0.0029 | -14 | c.-6- others(29): Show |
CYFIP1 | ENSG00000273749.5 | transcript | ENST00000617928.5 | protein_coding | 1/30 | chr15 | TogoVar | ||||||
| CYFIP1_chr15_22862052_22985368 | 22963546 | TAACATAA others(7): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG01255.hp1 HG01891.hp2 others(1): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0022 | a0001c0001t0006a0001c0002t0007a0004c0022t0015 | a0001c0001t0006g0013a0001c0001t0006g0017a0001c0002t0007g0021others(1): Show | 4 | 342 | 0.0117 | -14 | c.-6- others(31): Show |
CYFIP1 | ENSG00000273749.5 | transcript | ENST00000617928.5 | protein_coding | 1/30 | chr15 | TogoVar | ||||||
| CYFIP1_chr15_22862052_22985368 | 22964274 | CCACACAC others(7): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02257.hp1 HG02451.hp2 others(4): Show |
a0001a0002a0004 | a0001c0002a0002c0003a0002c0004others(1): Show | a0001c0002t0010a0001c0002t0012a0002c0003t0015others(4): Show | a0001c0002t0010g0299a0001c0002t0012g0300a0002c0003t0015g0301others(4): Show | 7 | 342 | 0.0205 | -14 | c.-7+ others(31): Show |
CYFIP1 | ENSG00000273749.5 | transcript | ENST00000617928.5 | protein_coding | 1/30 | chr15 | TogoVar | ||||||
| CYFIP1_chr15_22862052_22985368 | 22964353 | TCACACAC others(7): Show |
T | intron_variant | MODIFIER | HG01884.hp2 NA18940.hp2 NA18975.hp2 |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0008 | a0001c0002t0005g0024a0001c0002t0005g0051a0001c0002t0008g0311 | 3 | 342 | 0.0088 | -14 | c.-7+ others(31): Show |
CYFIP1 | ENSG00000273749.5 | transcript | ENST00000617928.5 | protein_coding | 1/30 | chr15 | TogoVar | ||||||
| CYLC1_chrX_83856146_83891698 | 83856898 | GATATATA others(7): Show |
G | upstream_gene_variant | MODIFIER | HG00733.hp1 NA19030.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0074a0002c0002t0001g0076 | 2 | 208 | 0.0096 | -14 | c.-42 others(25): Show |
CYLC1 | ENSG00000183035.13 | transcript | ENST00000329312.5 | protein_coding | 4247 | chrX | TogoVar | ||||||
| CYLC2_chr9_102990333_103023488 | 103006017 | GACACACA others(7): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG01106.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0055 | a0001c0001t0006g0002a0001c0001t0006g0013a0001c0001t0006g0015others(13): Show | 23 | 448 | 0.0513 | -14 | c.*38 others(23): Show |
CYLC2 | ENSG00000155833.15 | transcript | ENST00000374798.8 | protein_coding | 5/8 | 381 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||
| CYLC2_chr9_102990333_103023488 | 103014256 | TAATATAT others(7): Show |
T | intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0221 | 1 | 448 | 0.0022 | -14 | c.*81 others(33): Show |
CYLC2 | ENSG00000155833.15 | transcript | ENST00000374798.8 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| CYLD_chr16_50737086_50806935 | 50751979 | AACATATA others(7): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(170): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(150): Show | 173 | 302 | 0.5729 | -14 | c.807 others(28): Show |
CYLD | ENSG00000083799.18 | transcript | ENST00000427738.8 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CYP11A1_chr15_74332762_74372646 | 74357690 | CAGAATTC others(7): Show |
C | intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0066 | 1 | 380 | 0.0026 | -14 | c.269 others(31): Show |
CYP11A1 | ENSG00000140459.18 | transcript | ENST00000268053.11 | protein_coding | 1/8 | chr15 | TogoVar | ||||||
| CYP11B1_chr8_142867357_142884825 | 142867394 | CTGTGTGT others(7): Show |
C | downstream_gene_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0010 | a0001c0010t0002 | a0001c0010t0002g0017 | 1 | 428 | 0.0023 | -14 | c.*69 others(25): Show |
CYP11B1 | ENSG00000160882.13 | transcript | ENST00000292427.10 | protein_coding | 4962 | chr8 | TogoVar | ||||||
| CYP17A1_chr10_102825531_102842413 | 102826130 | CTTTTTTT others(7): Show |
C | downstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 442 | 0.0023 | -14 | c.*45 others(25): Show |
CYP17A1 | ENSG00000148795.7 | transcript | ENST00000369887.4 | protein_coding | 4400 | chr10 | TogoVar | ||||||
| CYP19A1_chr15_51203057_51343596 | 51223593 | TCACACAC others(7): Show |
T | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0016 | 1 | 306 | 0.0033 | -14 | c.452 others(31): Show |
CYP19A1 | ENSG00000137869.16 | transcript | ENST00000396402.6 | protein_coding | 4/9 | chr15 | TogoVar | ||||||
| CYP19A1_chr15_51203057_51343596 | 51226090 | GAAAAAAA others(7): Show |
G | intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0280 | 1 | 306 | 0.0033 | -14 | c.451 others(31): Show |
CYP19A1 | ENSG00000137869.16 | transcript | ENST00000396402.6 | protein_coding | 4/9 | chr15 | TogoVar | ||||||
| CYP19A1_chr15_51203057_51343596 | 51293549 | CTCCCTCT others(7): Show |
C | intron_variant | MODIFIER | HG02572.hp1 HG02647.hp2 HG02717.hp1 others(1): Show |
a0001a0002 | a0001c0005a0002c0011 | a0001c0005t0005a0002c0011t0002 | a0001c0005t0005g0019a0001c0005t0005g0025a0001c0005t0005g0153others(1): Show | 4 | 306 | 0.0131 | -14 | c.-39 others(33): Show |
CYP19A1 | ENSG00000137869.16 | transcript | ENST00000396402.6 | protein_coding | 1/9 | chr15 | TogoVar | ||||||
| CYP1A1_chr15_74714542_74730528 | 74715129 | TTATATAT others(7): Show |
T | downstream_gene_variant | MODIFIER | HG02145.hp1 NA18522.hp2 NA18982.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0001a0001c0001t0004g0013 | 3 | 434 | 0.0069 | -14 | c.*53 others(25): Show |
CYP1A1 | ENSG00000140465.15 | transcript | ENST00000379727.8 | protein_coding | 4412 | chr15 | TogoVar | ||||||
| CYP24A1_chr20_54148446_54178986 | 54154939 | TAAAAAAA others(7): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG00597.hp1 others(108): Show |
a0001 | a0001c0003a0001c0004a0001c0005others(5): Show | a0001c0003t0001a0001c0003t0004a0001c0003t0006others(12): Show | a0001c0003t0001g0011a0001c0003t0001g0078a0001c0003t0001g0124others(82): Show | 111 | 456 | 0.2434 | -14 | c.*11 others(29): Show |
CYP24A1 | ENSG00000019186.10 | transcript | ENST00000216862.8 | protein_coding | 11/11 | chr20 | TogoVar | ||||||
| CYP26B1_chr2_72124238_72152862 | 72152005 | CCACACAC others(7): Show |
C | upstream_gene_variant | MODIFIER | HG01243.hp1 HG02135.hp1 HG02647.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0002a0001c0001t0043a0002c0002t0011others(4): Show | a0001c0001t0002g0003a0001c0001t0043g0135a0002c0002t0011g0122others(4): Show | 7 | 312 | 0.0224 | -14 | c.-41 others(25): Show |
CYP26B1 | ENSG00000003137.9 | transcript | ENST00000001146.7 | protein_coding | 4144 | chr2 | TogoVar |