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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CRISP2_chr6_49687359_49718543 | 49702139 | CTATATAT others(20): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG02055.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0054 | 2 | 3 | 0.6667 | -27 | c.67- others(42): Show |
CRISP2 | ENSG00000124490.14 | transcript | ENST00000339139.5 | protein_coding | 4/9 | chr6 | TogoVar | |||||||
CROCC2_chr2_240901336_240998311 | 240985153 | CCACACAC others(20): Show |
C | intron_variant | MODIFIER | HG02258.hp1 | a0016 | a0016c0073 | a0016c0073t0007 | a0016c0073t0007g0232 | 1 | 217 | 0.0046 | -27 | c.455 others(46): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 28/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CRTAC1_chr10_97860000_98035621 | 98029491 | AGCGGCGG others(20): Show |
A | intron_variant | MODIFIER | HG02809.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 a0001c0001t0001g0201 |
2 | 130 | 0.0154 | -27 | c.24+ others(40): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 1/14 | chr10 | TogoVar | |||||||
CSF2RA_chrX_1263814_1314935 | 1290102 | TTTTTGTT others(20): Show |
T | intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0118 | 1 | 157 | 0.0064 | -27 | c.474 others(42): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19667011 | GAAAGAAA others(20): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG03688.hp1 |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0009a0002c0004t0013 | a0001c0002t0009g0003 a0002c0004t0013g0219 |
2 | 233 | 0.0086 | -27 | c.-39 others(48): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19667015 | GAAAGGAA others(20): Show |
G | intron_variant | MODIFIER | HG01099.hp2 HG01975.hp1 HG02886.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0007a0001c0002t0012others(3): Show | a0001c0001t0001g0040 a0001c0002t0007g0037 a0001c0002t0012g0175 others(3): Show |
6 | 232 | 0.0259 | -27 | c.-39 others(48): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3011367 | CTGTGATA others(20): Show |
C | intron_variant | MODIFIER | HG02922.hp2 NA20129.hp1 |
a0023a0039 | a0023c0069a0039c0010 | a0023c0069t0043a0039c0010t0068 | a0023c0069t0043g0100 a0039c0010t0068g0084 |
2 | 126 | 0.0159 | -27 | c.802 others(46): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 52/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3083628 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG02886.hp1 HG02965.hp1 HG03130.hp1 others(1): Show |
a0001a0024a0039 | a0001c0026a0001c0039a0024c0052others(1): Show | a0001c0026t0007a0001c0039t0064a0024c0052t0049others(1): Show | a0001c0026t0007g0093 a0001c0039t0064g0080 a0024c0052t0049g0098 others(1): Show |
4 | 126 | 0.0317 | -27 | c.747 others(46): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 49/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3796411 | ATATCTAT others(20): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG01243.hp2 HG02056.hp1 others(4): Show |
a0001a0010a0014others(1): Show | a0001c0002a0001c0003a0001c0007others(4): Show | a0001c0002t0002a0001c0003t0011a0001c0007t0032others(4): Show | a0001c0002t0002g0083 a0001c0003t0011g0026 a0001c0007t0032g0033 others(4): Show |
7 | 98 | 0.0714 | -27 | c.819 others(46): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3817252 | CTTTTTTT others(20): Show |
C | intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0059 | a0001c0059t0001 | a0001c0059t0001g0036 | 1 | 6 | 0.1667 | -27 | c.819 others(46): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4588370 | GAGACAGA others(20): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00735.hp2 HG01071.hp1 others(45): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0003a0001c0005others(41): Show | a0001c0001t0002a0001c0001t0038a0001c0003t0011others(44): Show | a0001c0001t0002g0102 a0001c0001t0002g0125 a0001c0001t0038g0017 others(45): Show |
48 | 126 | 0.3810 | -27 | c.302 others(46): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4742000 | CTTTTTTT others(20): Show |
C | intron_variant | MODIFIER | HG03139.hp2 HG06807.hp2 NA19043.hp1 |
a0001 | a0001c0033a0001c0068a0001c0093 | a0001c0033t0003a0001c0068t0015a0001c0093t0009 | a0001c0033t0003g0059 a0001c0068t0015g0049 a0001c0093t0009g0007 |
3 | 6 | 0.5000 | -27 | c.86- others(46): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4758697 | GCAGGTAA others(20): Show |
G | intron_variant | MODIFIER | HG02622.hp1 | a0002 | a0002c0030 | a0002c0030t0018 | a0002c0030t0018g0122 | 1 | 126 | 0.0079 | -27 | c.86- others(46): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 33659043 | CCATATTT others(20): Show |
C | intron_variant | MODIFIER | HG02723.hp1 | a0016 | a0016c0010 | a0016c0010t0017 | a0016c0010t0017g0064 | 1 | 64 | 0.0156 | -27 | c.425 others(44): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 26/70 | chr1 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 33790676 | TATCTATC others(20): Show |
T | intron_variant | MODIFIER | HG00438.hp2 | a0009 | a0009c0039 | a0009c0039t0014 | a0009c0039t0014g0011 | 1 | 64 | 0.0156 | -27 | c.155 others(46): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 11/70 | chr1 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 33790685 | ATCTATCT others(20): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG02647.hp2 HG02965.hp1 others(2): Show |
a0002a0012a0015others(2): Show | a0002c0043a0012c0019a0015c0023others(2): Show | a0002c0043t0003a0012c0019t0011a0015c0023t0003others(2): Show | a0002c0043t0003g0061 a0012c0019t0011g0017 a0015c0023t0003g0039 others(2): Show |
5 | 64 | 0.0781 | -27 | c.155 others(46): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 11/70 | chr1 | TogoVar | |||||||
CSNK1D_chr17_82237667_82278700 | 82254379 | TCAGCTGA others(20): Show |
T | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0192 | 1 | 318 | 0.0031 | -27 | c.336 others(44): Show |
CSNK1D | ENSG00000141551.15 | transcript | ENST00000314028.11 | protein_coding | 3/8 | chr17 | TogoVar | |||||||
CSNK2A1_chr20_467498_548790 | 485100 | AAAAAAAA others(20): Show |
A | intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 309 | 0.0032 | -27 | c.106 others(46): Show |
CSNK2A1 | ENSG00000101266.19 | transcript | ENST00000217244.9 | protein_coding | 13/13 | chr20 | TogoVar | |||||||
CSRNP3_chr2_165464698_165694407 | 165520770 | TTATATAT others(20): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG00609.hp1 HG01099.hp2 others(35): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0008others(23): Show | a0001c0001t0003g0003 a0001c0001t0003g0013 a0001c0001t0003g0098 others(35): Show |
38 | 112 | 0.3393 | -27 | c.-24 others(44): Show |
CSRNP3 | ENSG00000178662.16 | transcript | ENST00000651982.1 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CSTF2T_chr10_51690486_51704595 | 51697545 | CAGAAAGA others(20): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02965.hp2 HG03579.hp1 |
a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0000 | 2 | 426 | 0.0047 | -27 | c.*12 others(36): Show |
CSTF2T | ENSG00000177613.9 | transcript | ENST00000331173.6 | protein_coding | 1/1 | 127 | chr10 | TogoVar | ||||||
CSTF3_chr11_33079584_33166480 | 33163899 | ATATATAT others(20): Show |
A | upstream_gene_variant | MODIFIER | HG02615.hp1 HG03490.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0205 a0001c0001t0001g0219 a0001c0001t0002g0020 |
3 | 323 | 0.0093 | -27 | c.-26 others(38): Show |
CSTF3 | ENSG00000176102.13 | transcript | ENST00000323959.9 | protein_coding | 2420 | chr11 | TogoVar | |||||||
CSTF3_chr11_33079584_33166480 | 33163901 | ATATATAT others(20): Show |
A | upstream_gene_variant | MODIFIER | HG00642.hp2 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 a0001c0001t0001g0226 |
2 | 300 | 0.0067 | -27 | c.-26 others(38): Show |
CSTF3 | ENSG00000176102.13 | transcript | ENST00000323959.9 | protein_coding | 2422 | chr11 | TogoVar | |||||||
CSTF3_chr11_33079584_33166480 | 33163903 | ATATATAT others(20): Show |
A | upstream_gene_variant | MODIFIER | HG02572.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220 a0001c0001t0001g0225 |
2 | 333 | 0.0060 | -27 | c.-26 others(38): Show |
CSTF3 | ENSG00000176102.13 | transcript | ENST00000323959.9 | protein_coding | 2424 | chr11 | TogoVar | |||||||
CSTF3_chr11_33079584_33166480 | 33163905 | ATATATAT others(20): Show |
A | upstream_gene_variant | MODIFIER | HG00280.hp1 HG02258.hp2 HG02300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0212 |
3 | 349 | 0.0086 | -27 | c.-26 others(38): Show |
CSTF3 | ENSG00000176102.13 | transcript | ENST00000323959.9 | protein_coding | 2426 | chr11 | TogoVar | |||||||
CSTF3_chr11_33079584_33166480 | 33163907 | ATATATAT others(20): Show |
A | upstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 352 | 0.0028 | -27 | c.-26 others(38): Show |
CSTF3 | ENSG00000176102.13 | transcript | ENST00000323959.9 | protein_coding | 2428 | chr11 | TogoVar | |||||||
CTDNEP1_chr17_7238591_7256734 | 7243271 | AGGTTTCT others(20): Show |
A | downstream_gene_variant | MODIFIER | HG02257.hp1 HG02630.hp2 HG02976.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0011 a0002c0003t0001g0007 |
7 | 395 | 0.0177 | -27 | c.*88 others(36): Show |
CTDNEP1 | ENSG00000175826.12 | transcript | ENST00000574322.6 | protein_coding | 319 | chr17 | TogoVar | |||||||
CTDP1_chr18_79674803_79759503 | 79687811 | GAGGTTCT others(20): Show |
G | intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0013 | a0001c0013t0015 | a0001c0013t0015g0196 | 1 | 376 | 0.0027 | -27 | c.315 others(44): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CTDSPL_chr3_37856880_37989469 | 37861599 | CCCCCGAG others(20): Show |
C | upstream_gene_variant | MODIFIER | HG02630.hp1 HG02698.hp1 HG02895.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0151 a0001c0001t0003g0001 a0001c0001t0004g0056 others(7): Show |
11 | 164 | 0.0671 | -27 | c.-60 others(36): Show |
CTDSPL | ENSG00000144677.15 | transcript | ENST00000273179.10 | protein_coding | 280 | chr3 | TogoVar | |||||||
CTNNA2_chr2_79508051_80653780 | 80262901 | CAACAACA others(20): Show |
C | intron_variant | MODIFIER | HG00673.hp2 HG01106.hp1 HG02148.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(5): Show | a0001c0001t0001g0010 a0001c0001t0002g0057 a0001c0003t0001g0005 others(8): Show |
11 | 68 | 0.1618 | -27 | c.105 others(50): Show |
CTNNA2 | ENSG00000066032.19 | transcript | ENST00000402739.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CTNNA2_chr2_79508051_80653780 | 80596279 | GTTTTTTT others(20): Show |
G | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 4 | 0.2500 | -27 | c.218 others(46): Show |
CTNNA2 | ENSG00000066032.19 | transcript | ENST00000402739.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CTNNA3_chr10_65907523_67701195 | 66367868 | AATAATAA others(20): Show |
A | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010 | 1 | 32 | 0.0313 | -27 | c.173 others(48): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 12/17 | chr10 | TogoVar | |||||||
CTNNA3_chr10_65907523_67701195 | 66367871 | AATAATAA others(20): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG02922.hp1 HG02965.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0012a0001c0004t0001others(1): Show | a0001c0001t0001g0015 a0001c0001t0012g0038 a0001c0004t0001g0018 others(1): Show |
4 | 40 | 0.1000 | -27 | c.173 others(48): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 12/17 | chr10 | TogoVar | |||||||
CTNNA3_chr10_65907523_67701195 | 66367874 | AATAATAA others(20): Show |
A | intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0011 | 1 | 42 | 0.0238 | -27 | c.173 others(48): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 12/17 | chr10 | TogoVar | |||||||
CTPS2_chrX_16582999_16717669 | 16704852 | AAGAGAGA others(20): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02572.hp1 HG02723.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0014 | a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 others(2): Show |
5 | 224 | 0.0223 | -27 | c.-39 others(44): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | TogoVar | |||||||
CTSD_chr11_1747755_1768927 | 1754358 | GGAGGGAT others(20): Show |
G | intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0106 | 1 | 380 | 0.0026 | -27 | c.828 others(42): Show |
CTSD | ENSG00000117984.15 | transcript | ENST00000236671.7 | protein_coding | 6/8 | chr11 | TogoVar | |||||||
CTSZ_chr20_58990185_59012254 | 59006759 | GAGGTGGG others(20): Show |
G | intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0181 | 1 | 428 | 0.0023 | -27 | c.143 others(42): Show |
CTSZ | ENSG00000101160.15 | transcript | ENST00000217131.6 | protein_coding | 1/5 | chr20 | TogoVar | |||||||
CTU2_chr16_88701503_88720396 | 88714229 | TGTGGGTG others(20): Show |
T | splice_region_variant others(1): Show |
LOW | HG01891.hp2 HG02258.hp1 HG03453.hp1 others(1): Show |
a0005a0010 | a0005c0006a0010c0014 | a0005c0006t0001a0010c0014t0001 | a0005c0006t0001g0013 a0010c0014t0001g0013 |
4 | 416 | 0.0096 | -27 | c.109 others(41): Show |
CTU2 | ENSG00000174177.13 | transcript | ENST00000453996.7 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CUL2_chr10_35003551_35095341 | 35035351 | TAATATAT others(20): Show |
T | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0110 | 1 | 298 | 0.0034 | -27 | c.878 others(40): Show |
CUL2 | ENSG00000108094.17 | transcript | ENST00000374749.8 | protein_coding | 9/20 | chr10 | TogoVar | |||||||
CWC27_chr5_64763930_65023750 | 64840377 | AAAAAAAA others(20): Show |
A | intron_variant | MODIFIER | HG02723.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0095 a0001c0001t0002g0097 |
2 | 255 | 0.0078 | -27 | c.938 others(46): Show |
CWC27 | ENSG00000153015.17 | transcript | ENST00000381070.8 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CWC27_chr5_64763930_65023750 | 64840387 | AAAAAAAA others(20): Show |
A | intron_variant | MODIFIER | HG04199.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0241 | 1 | 240 | 0.0042 | -27 | c.938 others(46): Show |
CWC27 | ENSG00000153015.17 | transcript | ENST00000381070.8 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CWC27_chr5_64763930_65023750 | 64840389 | AAAAAAAT others(20): Show |
A | intron_variant | MODIFIER | NA19010.hp1 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0056 | 1 | 255 | 0.0039 | -27 | c.938 others(46): Show |
CWC27 | ENSG00000153015.17 | transcript | ENST00000381070.8 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CYB5D1_chr17_7853003_7867282 | 7854843 | GCTGCAAG others(20): Show |
G | upstream_gene_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0001 | 1 | 438 | 0.0023 | -27 | c.-32 others(38): Show |
CYB5D1 | ENSG00000182224.12 | transcript | ENST00000332439.5 | protein_coding | 3159 | chr17 | TogoVar | |||||||
CYB5D2_chr17_4138197_4162697 | 4160168 | TCAGCTCC others(20): Show |
T | downstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 | 1 | 368 | 0.0027 | -27 | c.*30 others(38): Show |
CYB5D2 | ENSG00000167740.10 | transcript | ENST00000301391.8 | protein_coding | 2472 | chr17 | TogoVar | |||||||
CYC1_chr8_144090076_144102525 | 144096762 | TGGCAGTG others(20): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(304): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0004a0003c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(13): Show |
307 | 350 | 0.8771 | -27 | c.772 others(40): Show |
CYC1 | ENSG00000179091.5 | transcript | ENST00000318911.5 | protein_coding | 5/6 | chr8 | TogoVar | |||||||
CYP24A1_chr20_54148446_54178986 | 54154939 | TAAAAAAA others(20): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG02970.hp1 HG03579.hp1 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0006a0001c0003t0027 | a0001c0003t0001g0079 a0001c0003t0006g0050 a0001c0003t0027g0374 |
3 | 30 | 0.1000 | -27 | c.*11 others(42): Show |
CYP24A1 | ENSG00000019186.10 | transcript | ENST00000216862.8 | protein_coding | 11/11 | chr20 | TogoVar | |||||||
CYP27A1_chr2_218777147_218820293 | 218778348 | CTTTTTTT others(20): Show |
C | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02293.hp1 HG02970.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0030 a0001c0001t0001g0053 a0001c0001t0001g0172 others(2): Show |
5 | 17 | 0.2941 | -27 | c.-38 others(38): Show |
CYP27A1 | ENSG00000135929.9 | transcript | ENST00000258415.9 | protein_coding | 3798 | chr2 | TogoVar | |||||||
CYP4F3_chr19_15635897_15667825 | 15656497 | CTATCTAT others(20): Show |
C | intron_variant | MODIFIER | HG02572.hp1 HG03130.hp1 HG03225.hp2 |
a0001 | a0001c0002 | a0001c0002t0023a0001c0002t0044 | a0001c0002t0023g0028 a0001c0002t0023g0318 a0001c0002t0044g0028 |
3 | 422 | 0.0071 | -27 | c.111 others(46): Show |
CYP4F3 | ENSG00000186529.16 | transcript | ENST00000221307.13 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
DAAM2_chr6_39787376_39909869 | 39909258 | GGGGGAGG others(20): Show |
G | downstream_gene_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0092 | 1 | 298 | 0.0034 | -27 | c.*72 others(38): Show |
DAAM2 | ENSG00000146122.17 | transcript | ENST00000274867.9 | protein_coding | 4390 | chr6 | TogoVar | |||||||
DAAM2_chr6_39787376_39909869 | 39909297 | GGGGGAGA others(20): Show |
G | downstream_gene_variant | MODIFIER | HG02451.hp1 HG03516.hp2 NA18944.hp2 others(7): Show |
a0001 | a0001c0004a0001c0007a0001c0039 | a0001c0004t0021a0001c0004t0031a0001c0007t0013others(2): Show | a0001c0004t0021g0061 a0001c0004t0021g0101 a0001c0004t0031g0293 others(7): Show |
10 | 298 | 0.0336 | -27 | c.*72 others(38): Show |
DAAM2 | ENSG00000146122.17 | transcript | ENST00000274867.9 | protein_coding | 4429 | chr6 | TogoVar | |||||||
DAB2IP_chr9_121646634_121790530 | 121751085 | GCTGCCCG others(20): Show |
G | intron_variant | MODIFIER | NA18940.hp1 NA18940.hp2 NA20300.hp1 |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0001t0020a0001c0011t0016 | a0001c0001t0001g0094 a0001c0001t0020g0062 a0001c0011t0016g0009 |
3 | 218 | 0.0138 | -27 | c.363 others(44): Show |
DAB2IP | ENSG00000136848.19 | transcript | ENST00000408936.8 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |