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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHRNB3_chr8_42692366_42742407 | 42701226 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01169.hp1 HG02155.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0006 | a0001c0001t0002g0006a0001c0001t0002g0247a0001c0001t0002g0257others(3): Show | 7 | 282 | 0.0248 | 9 | c.52+ others(24): Show |
CHRNB3 | ENSG00000147432.7 | transcript | ENST00000289957.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CHRNB3_chr8_42692366_42742407 | 42717403 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00735.hp1 HG01978.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0002a0001c0001t0001g0044a0001c0001t0001g0090others(6): Show | 10 | 282 | 0.0355 | 9 | c.249 others(26): Show |
CHRNB3 | ENSG00000147432.7 | transcript | ENST00000289957.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CHRND_chr2_232521160_232541664 | 232539624 | C | CGGGCTGG others(2): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00423.hp1 others(116): Show |
a0001a0002a0008others(2): Show | a0001c0001a0001c0002a0001c0013others(5): Show | a0001c0001t0002a0001c0001t0012a0001c0002t0002others(8): Show | a0001c0001t0002g0012a0001c0001t0002g0055a0001c0001t0012g0012others(35): Show | 119 | 438 | 0.2717 | 9 | c.*43 others(20): Show |
CHRND | ENSG00000135902.10 | transcript | ENST00000258385.8 | protein_coding | 2961 | chr2 | TogoVar | ||||||
CHRNG_chr2_232534692_232553115 | 232539624 | C | CGGGCTGG others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00423.hp1 others(107): Show |
a0001a0003a0006others(2): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(9): Show | a0001c0001t0001g0047a0001c0001t0002g0001a0001c0001t0002g0003others(24): Show | 110 | 434 | 0.2535 | 9 | c.-12 others(18): Show |
CHRNG | ENSG00000196811.13 | transcript | ENST00000651502.1 | protein_coding | 67 | chr2 | TogoVar | ||||||
CHST10_chr2_100386860_100422668 | 100416688 | A | AAACAACA others(2): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02717.hp1 HG02896.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0005a0002c0005t0009a0002c0005t0010others(2): Show | a0001c0001t0005g0061a0002c0005t0009g0031a0002c0005t0009g0059others(4): Show | 8 | 364 | 0.0220 | 9 | c.-10 others(26): Show |
CHST10 | ENSG00000115526.11 | transcript | ENST00000264249.8 | protein_coding | 1/6 | chr2 | TogoVar | ||||||
CHST12_chr7_2398611_2453484 | 2411490 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01192.hp2 HG01361.hp2 others(30): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0008a0001c0001t0021a0001c0001t0025others(30): Show | a0001c0001t0008g0266a0001c0001t0021g0092a0001c0001t0025g0087others(30): Show | 33 | 344 | 0.0959 | 9 | c.-78 others(26): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHST12_chr7_2398611_2453484 | 2452693 | C | CTCTCTCC others(2): Show |
downstream_gene_variant | MODIFIER | HG01074.hp2 HG01361.hp1 HG01934.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0021a0001c0001t0037a0001c0001t0094others(7): Show | a0001c0001t0021g0091a0001c0001t0021g0092a0001c0001t0037g0116others(8): Show | 11 | 344 | 0.0320 | 9 | c.*18 others(22): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 4210 | chr7 | TogoVar | ||||||
CHST13_chr3_126519155_126548291 | 126520847 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 HG02280.hp1 HG02622.hp2 others(5): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0004a0001c0001t0001g0023a0001c0001t0001g0101others(1): Show | 8 | 364 | 0.0220 | 9 | c.-34 others(20): Show |
CHST13 | ENSG00000180767.11 | transcript | ENST00000319340.7 | protein_coding | 3307 | chr3 | TogoVar | ||||||
CHST3_chr10_71959395_72018558 | 71964164 | G | GCTCCCCT others(2): Show |
upstream_gene_variant | MODIFIER | HG00558.hp2 HG01069.hp2 HG01070.hp1 others(47): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0011 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0002g0039a0001c0001t0002g0040a0001c0001t0002g0191others(40): Show | 50 | 372 | 0.1344 | 9 | c.-63 others(18): Show |
CHST3 | ENSG00000122863.6 | transcript | ENST00000373115.5 | protein_coding | 230 | chr10 | TogoVar | ||||||
CHST3_chr10_71959395_72018558 | 71967975 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00423.hp2 others(115): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0012others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(21): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(94): Show | 118 | 372 | 0.3172 | 9 | c.-10 others(28): Show |
CHST3 | ENSG00000122863.6 | transcript | ENST00000373115.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CHST4_chr16_71521426_71543748 | 71542925 | G | GTATTATT others(2): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 HG02148.hp1 HG02683.hp2 others(3): Show |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0001a0006c0006t0001 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(2): Show | 6 | 418 | 0.0144 | 9 | c.*50 others(20): Show |
CHST4 | ENSG00000140835.10 | transcript | ENST00000539698.4 | protein_coding | 4178 | chr16 | TogoVar | ||||||
CHST8_chr19_33616953_33778506 | 33618626 | C | CTCTTCTT others(2): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 HG01981.hp2 HG02109.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0024a0001c0001t0001g0028a0001c0001t0001g0030others(8): Show | 11 | 254 | 0.0433 | 9 | c.-38 others(20): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3326 | chr19 | TogoVar | ||||||
CHST8_chr19_33616953_33778506 | 33618632 | T | TTCTTCTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG01261.hp1 HG02559.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0003t0003 | a0001c0001t0001g0235a0001c0001t0001g0239a0001c0001t0001g0244others(7): Show | 10 | 254 | 0.0394 | 9 | c.-38 others(20): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3320 | chr19 | TogoVar | ||||||
CHST9_chr18_26901481_27190308 | 27021975 | A | ATGCCCAG others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(82): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0008a0001c0001t0001g0037a0001c0001t0001g0038others(82): Show | 85 | 262 | 0.3244 | 9 | c.202 others(26): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 4/5 | chr18 | TogoVar | ||||||
CHST9_chr18_26901481_27190308 | 27053130 | G | GGAAGAAG others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00741.hp1 HG01255.hp2 others(18): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0037a0001c0001t0001g0159a0001c0001t0003g0056others(18): Show | 21 | 262 | 0.0802 | 9 | c.122 others(26): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 2/5 | chr18 | TogoVar | ||||||
CHST9_chr18_26901481_27190308 | 27053133 | A | AGAAGAAG others(2): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01081.hp2 HG01123.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0018others(3): Show | a0001c0001t0003g0115a0001c0001t0003g0148a0001c0001t0004g0118others(5): Show | 8 | 262 | 0.0305 | 9 | c.122 others(26): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 2/5 | chr18 | TogoVar | ||||||
CHST9_chr18_26901481_27190308 | 27053218 | G | GGAAGAAG others(2): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02074.hp1 HG02622.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0230a0001c0001t0002g0128a0001c0001t0002g0130others(10): Show | 13 | 262 | 0.0496 | 9 | c.122 others(26): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 2/5 | chr18 | TogoVar | ||||||
CHST9_chr18_26901481_27190308 | 27053256 | A | AAGAAGAA others(2): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02280.hp2 HG03516.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0023a0001c0001t0027a0002c0003t0032 | a0001c0001t0023g0074a0001c0001t0027g0010a0002c0003t0032g0164 | 3 | 262 | 0.0115 | 9 | c.122 others(26): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 2/5 | chr18 | TogoVar | ||||||
CHST9_chr18_26901481_27190308 | 27150538 | C | CTAACTAA others(2): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01167.hp1 HG02257.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017a0001c0001t0028others(3): Show | a0001c0001t0001g0086a0001c0001t0017g0090a0001c0001t0028g0087others(3): Show | 6 | 262 | 0.0229 | 9 | c.-96 others(26): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 1/5 | chr18 | TogoVar | ||||||
CHSY1_chr15_101170727_101257048 | 101204435 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | NA18943.hp2 NA18978.hp1 NA19063.hp2 others(1): Show |
a0002a0003 | a0002c0002a0003c0006 | a0002c0002t0002a0002c0002t0024a0002c0002t0041others(1): Show | a0002c0002t0002g0070a0002c0002t0024g0032a0002c0002t0041g0033others(1): Show | 4 | 422 | 0.0095 | 9 | c.817 others(28): Show |
CHSY1 | ENSG00000131873.7 | transcript | ENST00000254190.4 | protein_coding | 2/2 | chr15 | TogoVar | ||||||
CHSY1_chr15_101170727_101257048 | 101251479 | G | GGCCGCCG others(2): Show |
5_prime_UTR_variant | MODIFIER | HG00558.hp1 NA18954.hp2 NA18993.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0015 | a0002c0002t0015g0051a0002c0002t0015g0052a0002c0002t0015g0053others(1): Show | 4 | 422 | 0.0095 | 9 | c.-32 others(16): Show |
CHSY1 | ENSG00000131873.7 | transcript | ENST00000254190.4 | protein_coding | 1/3 | 24 | chr15 | TogoVar | |||||
CHSY3_chr5_129899465_130191634 | 130062114 | T | TTTGCTAT others(2): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02486.hp2 HG02572.hp1 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0007a0003c0004 | a0001c0001t0006a0002c0007t0009a0003c0004t0004others(1): Show | a0001c0001t0006g0259a0002c0007t0009g0125a0003c0004t0004g0143others(2): Show | 5 | 276 | 0.0181 | 9 | c.108 others(32): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CHUK_chr10_100183300_100234596 | 100208782 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00408.hp1 others(172): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0004t0001a0001c0005t0001others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(123): Show | 175 | 402 | 0.4353 | 9 | c.112 others(26): Show |
CHUK | ENSG00000213341.11 | transcript | ENST00000370397.8 | protein_coding | 10/20 | chr10 | TogoVar | ||||||
CIAPIN1_chr16_57423187_57452385 | 57437512 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02145.hp2 HG03225.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0176a0001c0001t0001g0181a0001c0002t0001g0180 | 3 | 390 | 0.0077 | 9 | c.311 others(24): Show |
CIAPIN1 | ENSG00000005194.15 | transcript | ENST00000394391.9 | protein_coding | 3/8 | chr16 | TogoVar | ||||||
CIB3_chr19_16156368_16178525 | 16159722 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00423.hp1 others(77): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0021others(47): Show | 80 | 378 | 0.2116 | 9 | c.*17 others(20): Show |
CIB3 | ENSG00000141977.9 | transcript | ENST00000269878.8 | protein_coding | 1645 | chr19 | TogoVar | ||||||
CIB4_chr2_26576205_26646366 | 26587304 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02080.hp1 NA18747.hp1 NA18983.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0168a0001c0001t0001g0173others(3): Show | 7 | 344 | 0.0204 | 9 | c.329 others(26): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 4/6 | chr2 | TogoVar | ||||||
CIB4_chr2_26576205_26646366 | 26588978 | T | TTTCTTCT others(2): Show |
intron_variant | MODIFIER | HG00597.hp1 HG02129.hp2 HG02735.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0002c0002t0001a0002c0002t0007others(1): Show | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0082others(10): Show | 13 | 344 | 0.0378 | 9 | c.329 others(26): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 4/6 | chr2 | TogoVar | ||||||
CIB4_chr2_26576205_26646366 | 26589054 | T | TTCTTCTT others(2): Show |
intron_variant | MODIFIER | HG01884.hp1 NA19043.hp1 NA21309.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0001 | 3 | 344 | 0.0087 | 9 | c.329 others(26): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 4/6 | chr2 | TogoVar | ||||||
CIB4_chr2_26576205_26646366 | 26589108 | C | CTCTTCTT others(2): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02080.hp1 HG02809.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0003t0001 | a0001c0001t0001g0006a0001c0001t0002g0126a0002c0003t0001g0332 | 4 | 344 | 0.0116 | 9 | c.329 others(26): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 4/6 | chr2 | TogoVar | ||||||
CIBAR2_chr16_85093358_85117472 | 85110704 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02486.hp2 HG02622.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009a0001c0001t0011others(2): Show | a0001c0001t0003g0218a0001c0001t0003g0233a0001c0001t0009g0227others(4): Show | 8 | 436 | 0.0184 | 9 | c.21- others(22): Show |
CIBAR2 | ENSG00000153789.14 | transcript | ENST00000539556.6 | protein_coding | 1/8 | chr16 | TogoVar | ||||||
CIC_chr19_42264252_42300796 | 42284328 | C | CGCCCCGC others(2): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01069.hp2 HG01071.hp1 others(13): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0007others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(4): Show | a0001c0001t0001g0084a0001c0003t0001g0006a0001c0003t0001g0008others(9): Show | 16 | 196 | 0.0816 | 9 | c.279 others(28): Show |
CIC | ENSG00000079432.9 | transcript | ENST00000681038.1 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CIDEC_chr3_9861714_9885253 | 9874518 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02145.hp1 HG03471.hp2 others(1): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0001 | a0001c0002t0002g0173a0001c0002t0002g0174a0001c0002t0002g0194others(1): Show | 4 | 410 | 0.0098 | 9 | c.207 others(26): Show |
CIDEC | ENSG00000187288.12 | transcript | ENST00000336832.7 | protein_coding | 4/6 | chr3 | TogoVar | ||||||
CIDEC_chr3_9861714_9885253 | 9879161 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02165.hp2 HG03831.hp2 HG04115.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012 | a0001c0001t0003g0021a0001c0001t0003g0055a0001c0001t0003g0056others(4): Show | 9 | 410 | 0.0220 | 9 | c.-13 others(26): Show |
CIDEC | ENSG00000187288.12 | transcript | ENST00000336832.7 | protein_coding | 1/6 | chr3 | TogoVar | ||||||
CIITA_chr16_10872202_10941394 | 10893804 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01175.hp1 HG01361.hp1 others(17): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0015others(8): Show | a0001c0001t0003a0001c0001t0041a0001c0001t0129others(17): Show | a0001c0001t0003g0319a0001c0001t0041g0256a0001c0001t0129g0321others(17): Show | 20 | 392 | 0.0510 | 9 | c.53- others(24): Show |
CIITA | ENSG00000179583.21 | transcript | ENST00000324288.14 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CIP2A_chr3_108544864_108594438 | 108553894 | T | TACAAAAA others(2): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02145.hp1 HG02280.hp1 |
a0001a0010 | a0001c0001a0010c0011 | a0001c0001t0001a0010c0011t0008 | a0001c0001t0001g0109a0001c0001t0001g0111a0010c0011t0008g0143 | 3 | 372 | 0.0081 | 9 | c.232 others(26): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 18/20 | chr3 | TogoVar | ||||||
CIR1_chr2_174343022_174400712 | 174356526 | A | AGGAAGGA others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG01123.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0008 | a0001c0001t0001g0064a0001c0001t0001g0071a0001c0001t0001g0078others(7): Show | 10 | 348 | 0.0287 | 9 | c.485 others(26): Show |
CIR1 | ENSG00000138433.16 | transcript | ENST00000342016.8 | protein_coding | 7/9 | chr2 | TogoVar | ||||||
CISD1_chr10_58264162_58294586 | 58271043 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG00621.hp1 others(100): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0013others(1): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0017others(35): Show | 103 | 386 | 0.2668 | 9 | c.31+ others(24): Show |
CISD1 | ENSG00000122873.12 | transcript | ENST00000333926.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CIT_chr12_119680791_119882320 | 119731840 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0004 | a0004c0018 | a0004c0018t0006 | a0004c0018t0006g0005a0004c0018t0006g0006 | 2 | 236 | 0.0085 | 9 | c.335 others(28): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | TogoVar | ||||||
CIT_chr12_119680791_119882320 | 119862808 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02165.hp1 HG02630.hp1 others(10): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0006others(3): Show | a0001c0002t0002a0001c0002t0013a0001c0002t0014others(7): Show | a0001c0002t0002g0065a0001c0002t0002g0066a0001c0002t0002g0067others(10): Show | 13 | 236 | 0.0551 | 9 | c.239 others(26): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | TogoVar | ||||||
CKAP4_chr12_106232881_106253020 | 106237526 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 HG01071.hp2 HG01106.hp2 others(16): Show |
a0003a0005a0007 | a0003c0003a0005c0006a0007c0011 | a0003c0003t0001a0003c0003t0004a0003c0003t0023others(2): Show | a0003c0003t0001g0009a0003c0003t0001g0035a0003c0003t0001g0042others(8): Show | 19 | 418 | 0.0455 | 9 | c.*14 others(20): Show |
CKAP4 | ENSG00000136026.14 | transcript | ENST00000378026.5 | protein_coding | 354 | chr12 | TogoVar | ||||||
CKMT2_chr5_81228322_81271398 | 81249651 | C | CCATTTTC others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(56): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0241a0001c0001t0002g0016a0001c0001t0002g0017others(48): Show | 59 | 356 | 0.1657 | 9 | c.-20 others(26): Show |
CKMT2 | ENSG00000131730.16 | transcript | ENST00000254035.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CKMT2_chr5_81228322_81271398 | 81249651 | C | CCATTTTT others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00609.hp2 HG01123.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0141a0001c0001t0002g0009a0001c0001t0002g0010others(13): Show | 25 | 356 | 0.0702 | 9 | c.-20 others(26): Show |
CKMT2 | ENSG00000131730.16 | transcript | ENST00000254035.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CKM_chr19_45301413_45327875 | 45320890 | C | CTATTATT others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG01099.hp1 others(31): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(5): Show | a0001c0001t0001g0077a0001c0001t0001g0145a0001c0002t0001g0005others(28): Show | 34 | 392 | 0.0867 | 9 | c.-18 others(26): Show |
CKM | ENSG00000104879.5 | transcript | ENST00000221476.4 | protein_coding | 1/7 | chr19 | TogoVar | ||||||
CLASP1_chr2_121332776_121654462 | 121479020 | A | ACACACAC others(2): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02523.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0081 | a0001c0001t0002g0115a0001c0001t0081g0104 | 2 | 214 | 0.0094 | 9 | c.713 others(26): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 8/40 | chr2 | TogoVar | ||||||
CLASP1_chr2_121332776_121654462 | 121498201 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00639.hp1 HG00738.hp2 others(46): Show |
a0001a0004 | a0001c0002a0001c0006a0004c0004 | a0001c0002t0005a0001c0002t0006a0001c0002t0008others(25): Show | a0001c0002t0005g0145a0001c0002t0005g0146a0001c0002t0005g0147others(46): Show | 49 | 214 | 0.2290 | 9 | c.712 others(26): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 8/40 | chr2 | TogoVar | ||||||
CLASP1_chr2_121332776_121654462 | 121581260 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01981.hp2 HG02132.hp2 HG02165.hp2 others(8): Show |
a0001a0004 | a0001c0002a0004c0004 | a0001c0002t0009a0001c0002t0010a0001c0002t0014others(4): Show | a0001c0002t0009g0155a0001c0002t0009g0189a0001c0002t0010g0183others(8): Show | 11 | 214 | 0.0514 | 9 | c.195 others(28): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 2/40 | chr2 | TogoVar | ||||||
CLASP1_chr2_121332776_121654462 | 121636338 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02027.hp1 HG03471.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0034a0001c0002t0030a0001c0002t0038others(1): Show | a0001c0001t0034g0125a0001c0002t0030g0140a0001c0002t0038g0210others(1): Show | 4 | 214 | 0.0187 | 9 | c.-28 others(30): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 1/40 | chr2 | TogoVar | ||||||
CLASP2_chr3_33491245_33723254 | 33505227 | A | AAACAACA others(2): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02451.hp2 HG02896.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0171a0001c0001t0002g0240a0001c0001t0004g0225others(1): Show | 4 | 278 | 0.0144 | 9 | c.431 others(28): Show |
CLASP2 | ENSG00000163539.19 | transcript | ENST00000682230.1 | protein_coding | 37/38 | chr3 | TogoVar | ||||||
CLASP2_chr3_33491245_33723254 | 33667406 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00597.hp1 others(24): Show |
a0001a0006 | a0001c0001a0001c0006a0001c0015others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0024a0001c0001t0002g0022a0001c0001t0002g0026others(24): Show | 27 | 278 | 0.0971 | 9 | c.645 others(26): Show |
CLASP2 | ENSG00000163539.19 | transcript | ENST00000682230.1 | protein_coding | 6/38 | chr3 | TogoVar | ||||||
CLCA2_chr1_86419171_86461553 | 86444879 | T | TTTGTTGT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00642.hp2 others(38): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0011others(2): Show | a0001c0001t0003a0001c0001t0005a0001c0002t0001others(3): Show | a0001c0001t0003g0046a0001c0001t0003g0167a0001c0001t0003g0168others(23): Show | 41 | 414 | 0.0990 | 9 | c.171 others(26): Show |
CLCA2 | ENSG00000137975.8 | transcript | ENST00000370565.5 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |