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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CTIF_chr18_48534031_48868217 | 48730319 | GGTGTGAG others(29): Show |
G | intron_variant | MODIFIER | HG00621.hp2 HG00639.hp2 HG00642.hp1 others(16): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(13): Show | a0001c0001t0001g0017a0001c0001t0001g0075a0001c0001t0002g0101others(16): Show | 19 | 144 | 0.1319 | -36 | c.584 others(55): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CTIF_chr18_48534031_48868217 | 48730385 | TCCTGCTG others(29): Show |
T | intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0043 | 1 | 144 | 0.0069 | -36 | c.584 others(55): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CTIF_chr18_48534031_48868217 | 48730478 | CGCGGTGT others(29): Show |
C | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0039 | 1 | 144 | 0.0069 | -36 | c.584 others(55): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CTIF_chr18_48534031_48868217 | 48730517 | GGTGTGAG others(29): Show |
G | intron_variant | MODIFIER | HG02132.hp1 HG02135.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0024a0002c0004t0024 | a0001c0001t0024g0107a0002c0004t0024g0113 | 2 | 144 | 0.0139 | -36 | c.584 others(55): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CTIF_chr18_48534031_48868217 | 48730583 | CCCTGTGG others(29): Show |
C | intron_variant | MODIFIER | HG02132.hp1 HG02135.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0024a0002c0004t0024 | a0001c0001t0024g0107a0002c0004t0024g0113 | 2 | 144 | 0.0139 | -36 | c.584 others(55): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CTIF_chr18_48534031_48868217 | 48730607 | TGTGTGAG others(29): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG01081.hp2 HG01243.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0097a0001c0001t0003g0098a0001c0001t0004g0070others(2): Show | 5 | 144 | 0.0347 | -36 | c.584 others(55): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CTIF_chr18_48534031_48868217 | 48730676 | TGCGGTGT others(29): Show |
T | intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0094 | 1 | 144 | 0.0069 | -36 | c.584 others(55): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CTLA4_chr2_203862771_203878965 | 203873327 | CATATATA others(29): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0003 | 1 | 420 | 0.0024 | -36 | c.*53 others(45): Show |
CTLA4 | ENSG00000163599.18 | transcript | ENST00000648405.2 | protein_coding | 4/4 | 536 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
CTNNA2_chr2_79508051_80653780 | 79508955 | GTATATAT others(29): Show |
G | upstream_gene_variant | MODIFIER | HG00673.hp2 HG03098.hp1 HG03688.hp1 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0002a0001c0003t0005a0001c0005t0002 | a0001c0003t0002g0008a0001c0003t0005g0017a0001c0005t0002g0009 | 3 | 68 | 0.0441 | -36 | c.-42 others(47): Show |
CTNNA2 | ENSG00000066032.19 | transcript | ENST00000402739.9 | protein_coding | 4095 | chr2 | TogoVar | ||||||
CTNNA2_chr2_79508051_80653780 | 79521107 | GATATATA others(29): Show |
G | intron_variant | MODIFIER | HG02109.hp1 HG02630.hp1 HG02647.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(1): Show | a0001c0001t0001g0058a0001c0002t0001g0034a0001c0002t0003g0036others(1): Show | 4 | 68 | 0.0588 | -36 | c.-6+ others(51): Show |
CTNNA2 | ENSG00000066032.19 | transcript | ENST00000402739.9 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CTNNA2_chr2_79508051_80653780 | 79930266 | GAAAGAAA others(29): Show |
G | intron_variant | MODIFIER | HG02572.hp1 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0040 | 1 | 68 | 0.0147 | -36 | c.105 others(57): Show |
CTNNA2 | ENSG00000066032.19 | transcript | ENST00000402739.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CTNNA2_chr2_79508051_80653780 | 79930278 | GAGAGAGA others(29): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG02257.hp1 HG03453.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0066a0001c0002t0001g0022a0001c0002t0001g0023 | 3 | 68 | 0.0441 | -36 | c.105 others(57): Show |
CTNNA2 | ENSG00000066032.19 | transcript | ENST00000402739.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CTNNA2_chr2_79508051_80653780 | 80043065 | TTCTTTCT others(29): Show |
T | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0048 | 1 | 68 | 0.0147 | -36 | c.105 others(59): Show |
CTNNA2 | ENSG00000066032.19 | transcript | ENST00000402739.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CTNNA2_chr2_79508051_80653780 | 80043115 | CTTTCTCC others(29): Show |
C | intron_variant | MODIFIER | HG03098.hp2 HG03209.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0042a0001c0003t0001g0005 | 2 | 68 | 0.0294 | -36 | c.105 others(59): Show |
CTNNA2 | ENSG00000066032.19 | transcript | ENST00000402739.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CTNNA2_chr2_79508051_80653780 | 80043119 | CTCCTTCC others(29): Show |
C | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0003 | 1 | 68 | 0.0147 | -36 | c.105 others(59): Show |
CTNNA2 | ENSG00000066032.19 | transcript | ENST00000402739.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CTNNA3_chr10_65907523_67701195 | 66367865 | AATAATAA others(29): Show |
A | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 46 | 0.0217 | -36 | c.173 others(57): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 12/17 | chr10 | TogoVar | ||||||
CTNNA3_chr10_65907523_67701195 | 66367868 | AATAATAA others(29): Show |
A | intron_variant | MODIFIER | HG02965.hp1 HG03195.hp1 NA18960.hp1 others(2): Show |
a0001a0002a0005 | a0001c0001a0001c0007a0002c0002others(1): Show | a0001c0001t0004a0001c0001t0024a0001c0007t0015others(2): Show | a0001c0001t0004g0041a0001c0001t0024g0044a0001c0007t0015g0016others(2): Show | 5 | 46 | 0.1087 | -36 | c.173 others(57): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 12/17 | chr10 | TogoVar | ||||||
CTNNA3_chr10_65907523_67701195 | 66367871 | AATAATAA others(29): Show |
A | intron_variant | MODIFIER | HG03130.hp2 HG06807.hp2 |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0026 | a0002c0002t0003g0039a0002c0002t0026g0046 | 2 | 46 | 0.0435 | -36 | c.173 others(57): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 12/17 | chr10 | TogoVar | ||||||
CTNNA3_chr10_65907523_67701195 | 66367874 | AATAATAA others(29): Show |
A | intron_variant | MODIFIER | HG02145.hp2 | a0003 | a0003c0009 | a0003c0009t0003 | a0003c0009t0003g0036 | 1 | 46 | 0.0217 | -36 | c.173 others(57): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 12/17 | chr10 | TogoVar | ||||||
CTNNA3_chr10_65907523_67701195 | 67302002 | CGAAAGAA others(29): Show |
C | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0018 | 1 | 46 | 0.0217 | -36 | c.580 others(55): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 5/17 | chr10 | TogoVar | ||||||
CTNND2_chr5_10966836_11909446 | 11641671 | TGTGTATA others(29): Show |
T | intron_variant | MODIFIER | HG03471.hp2 NA19043.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0024a0001c0004t0001g0019 | 2 | 26 | 0.0769 | -36 | c.175 others(55): Show |
CTNND2 | ENSG00000169862.21 | transcript | ENST00000304623.13 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
CTNS_chr17_3631760_3668103 | 3656187 | ATGCCCCT others(29): Show |
A | intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0218 | 1 | 372 | 0.0027 | -36 | c.462 others(51): Show |
CTNS | ENSG00000040531.16 | transcript | ENST00000046640.9 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CTNS_chr17_3631760_3668103 | 3656347 | CCTGCCCT others(29): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(352): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(100): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0022others(311): Show | 355 | 372 | 0.9543 | -36 | c.462 others(49): Show |
CTNS | ENSG00000040531.16 | transcript | ENST00000046640.9 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CTSD_chr11_1747755_1768927 | 1754559 | GGGATGGA others(29): Show |
G | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 386 | 0.0026 | -36 | c.827 others(51): Show |
CTSD | ENSG00000117984.15 | transcript | ENST00000236671.7 | protein_coding | 6/8 | chr11 | TogoVar | ||||||
CTSF_chr11_66558464_66573606 | 66569276 | GCAGGTAA others(29): Show |
G | upstream_gene_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0003 | 1 | 412 | 0.0024 | -36 | c.-82 others(45): Show |
CTSF | ENSG00000174080.12 | transcript | ENST00000310325.10 | protein_coding | 671 | chr11 | TogoVar | ||||||
CTSH_chr15_78916058_78950046 | 78932621 | GGCCCTGT others(29): Show |
G | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0264 | 1 | 414 | 0.0024 | -36 | c.406 others(51): Show |
CTSH | ENSG00000103811.18 | transcript | ENST00000220166.10 | protein_coding | 5/11 | chr15 | TogoVar | ||||||
CTSH_chr15_78916058_78950046 | 78932650 | GCTCGCAA others(29): Show |
G | intron_variant | MODIFIER | HG02109.hp2 HG02559.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0255a0001c0002t0001g0256 | 2 | 414 | 0.0048 | -36 | c.406 others(51): Show |
CTSH | ENSG00000103811.18 | transcript | ENST00000220166.10 | protein_coding | 5/11 | chr15 | TogoVar | ||||||
CTSL_chr9_87721119_87736469 | 87734122 | CCAACCTG others(29): Show |
C | downstream_gene_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 388 | 0.0026 | -36 | c.*30 others(47): Show |
CTSL | ENSG00000135047.16 | transcript | ENST00000343150.10 | protein_coding | 2654 | chr9 | TogoVar | ||||||
CTSS_chr1_150725188_150770778 | 150744290 | TTTATATA others(29): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG01981.hp1 HG03654.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164a0001c0001t0001g0168a0001c0001t0001g0196 | 3 | 344 | 0.0087 | -36 | c.896 others(53): Show |
CTSS | ENSG00000163131.12 | transcript | ENST00000368985.8 | protein_coding | 7/7 | chr1 | TogoVar | ||||||
CTSS_chr1_150725188_150770778 | 150744433 | TTTATATA others(29): Show |
T | intron_variant | MODIFIER | HG01433.hp2 HG02622.hp2 HG02896.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0003 | a0001c0001t0003g0034a0001c0001t0003g0269a0001c0001t0003g0271others(4): Show | 8 | 344 | 0.0233 | -36 | c.896 others(53): Show |
CTSS | ENSG00000163131.12 | transcript | ENST00000368985.8 | protein_coding | 7/7 | chr1 | TogoVar | ||||||
CTXN1_chr19_7919491_7931135 | 7924264 | CAGCCCTG others(29): Show |
C | downstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 424 | 0.0024 | -36 | c.*99 others(46): Show |
CTXN1 | ENSG00000178531.6 | transcript | ENST00000318978.6 | protein_coding | 226 | chr19 | TogoVar | ||||||
CUX2_chr12_111029165_111355554 | 111070376 | TCTTCCTT others(29): Show |
T | intron_variant | MODIFIER | HG01099.hp1 HG01884.hp1 HG01891.hp1 others(28): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(10): Show | a0001c0001t0001g0013a0001c0001t0001g0024a0001c0001t0002g0012others(28): Show | 31 | 100 | 0.3100 | -36 | c.63+ others(53): Show |
CUX2 | ENSG00000111249.14 | transcript | ENST00000261726.11 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CUX2_chr12_111029165_111355554 | 111330686 | CATATATA others(29): Show |
C | intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0100 | 1 | 100 | 0.0100 | -36 | c.292 others(55): Show |
CUX2 | ENSG00000111249.14 | transcript | ENST00000261726.11 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CWC22_chr2_179939876_180012297 | 180008451 | TTGCCAAA others(29): Show |
T | upstream_gene_variant | MODIFIER | HG02896.hp1 | a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0032 | 1 | 376 | 0.0027 | -36 | c.-17 others(47): Show |
CWC22 | ENSG00000163510.14 | transcript | ENST00000410053.8 | protein_coding | 1155 | chr2 | TogoVar | ||||||
CWC27_chr5_64763930_65023750 | 65006960 | CAGAAAGA others(29): Show |
C | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0106 | 1 | 260 | 0.0039 | -36 | c.125 others(57): Show |
CWC27 | ENSG00000153015.17 | transcript | ENST00000381070.8 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CWF19L2_chr11_107321360_107462825 | 107460485 | TTATATAT others(29): Show |
T | upstream_gene_variant | MODIFIER | HG00642.hp2 HG01109.hp1 HG01175.hp1 others(18): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0009c0012 | a0001c0001t0005a0001c0001t0011a0002c0002t0008others(1): Show | a0001c0001t0005g0367a0001c0001t0005g0368a0001c0001t0005g0369others(18): Show | 21 | 392 | 0.0536 | -36 | c.-27 others(47): Show |
CWF19L2 | ENSG00000152404.16 | transcript | ENST00000282251.10 | protein_coding | 2661 | chr11 | TogoVar | ||||||
CX3CR1_chr3_39258496_39285036 | 39274230 | ATGATGGC others(29): Show |
A | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0185 | 1 | 420 | 0.0024 | -36 | c.-10 others(53): Show |
CX3CR1 | ENSG00000168329.14 | transcript | ENST00000399220.3 | protein_coding | 1/1 | chr3 | TogoVar | ||||||
CXXC5_chr5_139643349_139688882 | 139676199 | GCCCTCCT others(29): Show |
G | intron_variant | MODIFIER | NA18951.hp2 NA18979.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121a0001c0001t0001g0175 | 2 | 266 | 0.0075 | -36 | c.-16 others(55): Show |
CXXC5 | ENSG00000171604.12 | transcript | ENST00000302517.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CYB5D2_chr17_4138197_4162697 | 4158025 | CTCCCCTT others(29): Show |
C | downstream_gene_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0108 | 1 | 370 | 0.0027 | -36 | c.*94 others(45): Show |
CYB5D2 | ENSG00000167740.10 | transcript | ENST00000301391.8 | protein_coding | 329 | chr17 | TogoVar | ||||||
CYLD_chr16_50737086_50806935 | 50754980 | CATATATA others(29): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(179): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(161): Show | 182 | 302 | 0.6027 | -36 | c.913 others(51): Show |
CYLD | ENSG00000083799.18 | transcript | ENST00000427738.8 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CYP24A1_chr20_54148446_54178986 | 54178668 | AACTTCTC others(29): Show |
A | upstream_gene_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0270 | 1 | 456 | 0.0022 | -36 | c.-51 others(47): Show |
CYP24A1 | ENSG00000019186.10 | transcript | ENST00000216862.8 | protein_coding | 4683 | chr20 | TogoVar | ||||||
CYP2A13_chr19_41083451_41101195 | 41089804 | GTCTCTCT others(29): Show |
G | intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 422 | 0.0024 | -36 | c.344 others(51): Show |
CYP2A13 | ENSG00000197838.5 | transcript | ENST00000330436.4 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CYP2A7_chr19_40870439_40887231 | 40880763 | CAGGACAG others(29): Show |
C | intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0107 | 1 | 398 | 0.0025 | -36 | c.344 others(51): Show |
CYP2A7 | ENSG00000198077.11 | transcript | ENST00000301146.9 | protein_coding | 2/8 | chr19 | TogoVar | ||||||
CYP2A7_chr19_40870439_40887231 | 40880798 | GGAGAGAG others(29): Show |
G | intron_variant | MODIFIER | NA19240.hp2 NA21309.hp2 |
a0020 | a0020c0023 | a0020c0023t0001 | a0020c0023t0001g0120a0020c0023t0001g0121 | 2 | 398 | 0.0050 | -36 | c.344 others(51): Show |
CYP2A7 | ENSG00000198077.11 | transcript | ENST00000301146.9 | protein_coding | 2/8 | chr19 | TogoVar | ||||||
CYP2E1_chr10_133522363_133544123 | 133536725 | ATGGTTGG others(29): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(273): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0001c0009others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006others(63): Show | 276 | 414 | 0.6667 | -36 | c.968 others(51): Show |
CYP2E1 | ENSG00000130649.10 | transcript | ENST00000252945.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CYP2E1_chr10_133522363_133544123 | 133542660 | TTTCTTTC others(29): Show |
T | downstream_gene_variant | MODIFIER | HG02886.hp1 | a0002 | a0002c0007 | a0002c0007t0004 | a0002c0007t0004g0014 | 1 | 414 | 0.0024 | -36 | c.*36 others(47): Show |
CYP2E1 | ENSG00000130649.10 | transcript | ENST00000252945.8 | protein_coding | 3538 | chr10 | TogoVar | ||||||
CYP4F12_chr19_15668087_15702174 | 15674269 | ACTCACTC others(29): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00642.hp2 HG00673.hp1 others(34): Show |
a0001a0002a0006others(2): Show | a0001c0001a0002c0002a0002c0019others(3): Show | a0001c0001t0001a0002c0002t0001a0002c0019t0001others(3): Show | a0001c0001t0001g0138a0002c0002t0001g0004a0002c0002t0001g0014others(14): Show | 37 | 410 | 0.0902 | -36 | c.198 others(51): Show |
CYP4F12 | ENSG00000186204.15 | transcript | ENST00000550308.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CYP4F12_chr19_15668087_15702174 | 15676683 | CTGCTCAC others(29): Show |
C | intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 410 | 0.0024 | -36 | c.199 others(53): Show |
CYP4F12 | ENSG00000186204.15 | transcript | ENST00000550308.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CYRIA_chr2_16544459_16670834 | 16596787 | TGCTCTTG others(29): Show |
T | intron_variant | MODIFIER | HG00609.hp2 HG01261.hp2 HG01884.hp2 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0068a0001c0001t0001g0104a0001c0001t0002g0100others(28): Show | 31 | 290 | 0.1069 | -36 | c.-10 others(53): Show |
CYRIA | ENSG00000197872.11 | transcript | ENST00000381323.7 | protein_coding | 2/11 | chr2 | TogoVar | ||||||
CYTH2_chr19_48464369_48487314 | 48481894 | TGGCAGGT others(29): Show |
T | 3_prime_UTR_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0001 | 1 | 366 | 0.0027 | -36 | c.*26 others(47): Show |
CYTH2 | ENSG00000105443.17 | transcript | ENST00000452733.7 | protein_coding | 12/12 | 2685 | chr19 | TogoVar |