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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHST9_chr18_26901481_27190308 | 26918836 | ACGTGTAC others(5): Show |
A | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0235 | 1 | 262 | 0.0038 | -12 | c.241 others(29): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 5/5 | chr18 | TogoVar | ||||||
CHST9_chr18_26901481_27190308 | 26975725 | GTATATAT others(5): Show |
G | intron_variant | MODIFIER | HG01981.hp1 HG02040.hp1 HG02486.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013a0001c0001t0015others(9): Show | a0001c0001t0001g0240a0001c0001t0013g0220a0001c0001t0015g0224others(10): Show | 13 | 262 | 0.0496 | -12 | c.203 others(31): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 4/5 | chr18 | TogoVar | ||||||
CHST9_chr18_26901481_27190308 | 27014453 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(49): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0045a0001c0001t0001g0048a0001c0001t0001g0086others(49): Show | 52 | 262 | 0.1985 | -12 | c.202 others(29): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 4/5 | chr18 | TogoVar | ||||||
CHST9_chr18_26901481_27190308 | 27052276 | ATGTATAT others(5): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00609.hp1 HG00609.hp2 others(56): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0120a0001c0001t0001g0135a0001c0001t0002g0124others(56): Show | 59 | 262 | 0.2252 | -12 | c.122 others(29): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 2/5 | chr18 | TogoVar | ||||||
CHST9_chr18_26901481_27190308 | 27053130 | GGAAGAAG others(5): Show |
G | intron_variant | MODIFIER | HG02738.hp1 HG02809.hp1 HG02965.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0003g0174a0001c0001t0005g0062a0001c0001t0005g0226others(3): Show | 6 | 262 | 0.0229 | -12 | c.122 others(29): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 2/5 | chr18 | TogoVar | ||||||
CHST9_chr18_26901481_27190308 | 27053256 | AAGAAGGA others(5): Show |
A | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0089 | a0001c0001t0089g0016 | 1 | 262 | 0.0038 | -12 | c.122 others(29): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 2/5 | chr18 | TogoVar | ||||||
CHST9_chr18_26901481_27190308 | 27137304 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG00738.hp1 HG02735.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0002a0001c0001t0004a0001c0001t0010others(4): Show | a0001c0001t0002g0059a0001c0001t0004g0031a0001c0001t0010g0030others(4): Show | 7 | 262 | 0.0267 | -12 | c.121 others(29): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 2/5 | chr18 | TogoVar | ||||||
CHST9_chr18_26901481_27190308 | 27137347 | TGTGTGTG others(5): Show |
T | intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 262 | 0.0038 | -12 | c.121 others(29): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 2/5 | chr18 | TogoVar | ||||||
CHST9_chr18_26901481_27190308 | 27141591 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01256.hp1 HG01943.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0045a0001c0001t0011g0046 | 2 | 262 | 0.0076 | -12 | c.121 others(29): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 2/5 | chr18 | TogoVar | ||||||
CHSY1_chr15_101170727_101257048 | 101186319 | CAAATAAA others(5): Show |
C | intron_variant | MODIFIER | HG00609.hp1 HG00741.hp2 HG01099.hp2 others(31): Show |
a0001a0003a0006 | a0001c0003a0001c0008a0003c0006others(3): Show | a0001c0003t0004a0001c0008t0010a0001c0008t0039others(8): Show | a0001c0003t0004g0089a0001c0008t0010g0034a0001c0008t0010g0035others(31): Show | 34 | 422 | 0.0806 | -12 | c.817 others(29): Show |
CHSY1 | ENSG00000131873.7 | transcript | ENST00000254190.4 | protein_coding | 2/2 | chr15 | TogoVar | ||||||
CHSY1_chr15_101170727_101257048 | 101204435 | AAATAATA others(5): Show |
A | intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0003 | a0001c0003t0053 | a0001c0003t0053g0303 | 1 | 422 | 0.0024 | -12 | c.817 others(31): Show |
CHSY1 | ENSG00000131873.7 | transcript | ENST00000254190.4 | protein_coding | 2/2 | chr15 | TogoVar | ||||||
CHSY1_chr15_101170727_101257048 | 101255803 | CTGTGTGT others(5): Show |
C | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01243.hp2 HG02257.hp2 others(6): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0007a0001c0004t0003 | a0001c0003t0007g0244a0001c0004t0003g0020a0001c0004t0003g0265others(5): Show | 9 | 422 | 0.0213 | -12 | c.-43 others(23): Show |
CHSY1 | ENSG00000131873.7 | transcript | ENST00000254190.4 | protein_coding | 3756 | chr15 | TogoVar | ||||||
CHSY3_chr5_129899465_130191634 | 129908469 | AAGTGATA others(5): Show |
A | intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0005 | a0002c0005t0005 | a0002c0005t0005g0005 | 1 | 276 | 0.0036 | -12 | c.108 others(29): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CHSY3_chr5_129899465_130191634 | 129970398 | TTAGATAG others(5): Show |
T | intron_variant | MODIFIER | HG00597.hp1 HG02135.hp1 HG02258.hp2 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0002a0002c0003a0002c0005others(2): Show | a0001c0002t0001a0002c0003t0005a0002c0005t0001others(3): Show | a0001c0002t0001g0036a0002c0003t0005g0126a0002c0005t0001g0013others(4): Show | 7 | 276 | 0.0254 | -12 | c.108 others(33): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CHSY3_chr5_129899465_130191634 | 130020422 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | HG00597.hp2 HG00621.hp1 HG00735.hp2 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0005others(3): Show | a0001c0001t0002a0001c0002t0001a0002c0005t0001others(3): Show | a0001c0001t0002g0208a0001c0002t0001g0003a0001c0002t0001g0032others(10): Show | 13 | 276 | 0.0471 | -12 | c.108 others(35): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CHSY3_chr5_129899465_130191634 | 130143756 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | HG00597.hp1 NA18955.hp1 NA18992.hp2 others(2): Show |
a0003a0005 | a0003c0004a0003c0006a0005c0010 | a0003c0004t0004a0003c0006t0003a0005c0010t0003 | a0003c0004t0004g0239a0003c0006t0003g0043a0005c0010t0003g0065others(2): Show | 5 | 276 | 0.0181 | -12 | c.108 others(33): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CHSY3_chr5_129899465_130191634 | 130143768 | GTATATAT others(5): Show |
G | intron_variant | MODIFIER | HG02258.hp2 HG02886.hp1 HG03209.hp2 others(2): Show |
a0002a0003 | a0002c0003a0003c0004 | a0002c0003t0005a0003c0004t0004 | a0002c0003t0005g0124a0002c0003t0005g0126a0002c0003t0005g0127others(2): Show | 5 | 276 | 0.0181 | -12 | c.108 others(33): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CHSY3_chr5_129899465_130191634 | 130143798 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | NA19079.hp1 | a0005 | a0005c0010 | a0005c0010t0003 | a0005c0010t0003g0065 | 1 | 276 | 0.0036 | -12 | c.108 others(33): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CHSY3_chr5_129899465_130191634 | 130160897 | TTTTTTTT others(5): Show |
T | intron_variant | MODIFIER | HG02486.hp2 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0143 | 1 | 276 | 0.0036 | -12 | c.108 others(33): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CIAO1_chr2_96261225_96279173 | 96267134 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 404 | 0.0025 | -12 | c.140 others(27): Show |
CIAO1 | ENSG00000144021.3 | transcript | ENST00000488633.2 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CIAPIN1_chr16_57423187_57452385 | 57445834 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | NA19000.hp1 NA19000.hp2 |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0001a0005c0009t0001 | a0001c0001t0001g0171a0005c0009t0001g0172 | 2 | 390 | 0.0051 | -12 | c.-56 others(29): Show |
CIAPIN1 | ENSG00000005194.15 | transcript | ENST00000394391.9 | protein_coding | 1/8 | chr16 | TogoVar | ||||||
CIB2_chr15_78099606_78136445 | 78117246 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG01109.hp2 others(38): Show |
a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(2): Show | a0001c0002t0001g0011a0001c0002t0001g0018a0001c0002t0001g0039others(26): Show | 41 | 390 | 0.1051 | -12 | c.87- others(27): Show |
CIB2 | ENSG00000136425.14 | transcript | ENST00000258930.8 | protein_coding | 2/5 | chr15 | TogoVar | ||||||
CIB3_chr19_16156368_16178525 | 16177902 | AATTAATT others(5): Show |
A | upstream_gene_variant | MODIFIER | HG01123.hp2 HG02615.hp2 HG02895.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080a0001c0001t0001g0081a0001c0001t0001g0082 | 3 | 378 | 0.0079 | -12 | c.-44 others(23): Show |
CIB3 | ENSG00000141977.9 | transcript | ENST00000269878.8 | protein_coding | 4378 | chr19 | TogoVar | ||||||
CIB4_chr2_26576205_26646366 | 26588978 | TTTCTTCT others(5): Show |
T | intron_variant | MODIFIER | HG06807.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0062 | 1 | 344 | 0.0029 | -12 | c.329 others(29): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 4/6 | chr2 | TogoVar | ||||||
CIB4_chr2_26576205_26646366 | 26589048 | TTCTTCTT others(5): Show |
T | intron_variant | MODIFIER | HG01081.hp1 HG01167.hp2 HG01169.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0002 | a0001c0001t0001g0243a0001c0001t0001g0296a0001c0001t0002g0226others(4): Show | 8 | 344 | 0.0233 | -12 | c.329 others(29): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 4/6 | chr2 | TogoVar | ||||||
CIB4_chr2_26576205_26646366 | 26589054 | TTCTTCCT others(5): Show |
T | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0051 | 1 | 344 | 0.0029 | -12 | c.329 others(29): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 4/6 | chr2 | TogoVar | ||||||
CIB4_chr2_26576205_26646366 | 26589066 | CTCTTCCT others(5): Show |
C | intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 344 | 0.0029 | -12 | c.329 others(29): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 4/6 | chr2 | TogoVar | ||||||
CIB4_chr2_26576205_26646366 | 26589096 | TTCTTCTT others(5): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02615.hp2 HG03098.hp1 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0046a0001c0001t0001g0053a0001c0004t0001g0045others(2): Show | 5 | 344 | 0.0145 | -12 | c.329 others(29): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 4/6 | chr2 | TogoVar | ||||||
CIB4_chr2_26576205_26646366 | 26589108 | CTCTTCTT others(5): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG01167.hp2 HG01169.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0003a0002c0002t0002g0002 | 4 | 344 | 0.0116 | -12 | c.329 others(29): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 4/6 | chr2 | TogoVar | ||||||
CIB4_chr2_26576205_26646366 | 26589141 | TCCTTCCC others(5): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02280.hp2 HG02451.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0194a0002c0002t0001g0193a0002c0002t0001g0195others(4): Show | 7 | 344 | 0.0204 | -12 | c.329 others(29): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 4/6 | chr2 | TogoVar | ||||||
CIB4_chr2_26576205_26646366 | 26589153 | CCCTTCCC others(5): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG01167.hp2 HG01169.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0003a0002c0002t0002g0002 | 4 | 344 | 0.0116 | -12 | c.329 others(29): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 4/6 | chr2 | TogoVar | ||||||
CIB4_chr2_26576205_26646366 | 26589159 | CCCTTCTC others(5): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01069.hp2 HG01071.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0060a0001c0001t0001g0064a0001c0001t0001g0065others(7): Show | 11 | 344 | 0.0320 | -12 | c.329 others(29): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 4/6 | chr2 | TogoVar | ||||||
CIB4_chr2_26576205_26646366 | 26590258 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG02630.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0334 | 1 | 344 | 0.0029 | -12 | c.328 others(29): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 4/6 | chr2 | TogoVar | ||||||
CIB4_chr2_26576205_26646366 | 26595895 | GCGCACAC others(5): Show |
G | intron_variant | MODIFIER | HG00741.hp1 HG01099.hp2 HG01515.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(2): Show | a0001c0001t0001g0160a0001c0001t0001g0296a0001c0001t0001g0321others(7): Show | 10 | 344 | 0.0291 | -12 | c.187 others(27): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 3/6 | chr2 | TogoVar | ||||||
CIB4_chr2_26576205_26646366 | 26595897 | GCACACAC others(5): Show |
G | intron_variant | MODIFIER | HG03098.hp2 HG03540.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0299a0002c0002t0001g0319 | 2 | 344 | 0.0058 | -12 | c.187 others(27): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 3/6 | chr2 | TogoVar | ||||||
CIB4_chr2_26576205_26646366 | 26601227 | AAAAAATA others(5): Show |
A | intron_variant | MODIFIER | HG02723.hp2 NA18747.hp2 NA18956.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0192a0001c0001t0001g0206a0001c0004t0001g0050 | 3 | 344 | 0.0087 | -12 | c.187 others(29): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 3/6 | chr2 | TogoVar | ||||||
CIB4_chr2_26576205_26646366 | 26601229 | AAAATATA others(5): Show |
A | intron_variant | MODIFIER | HG01515.hp1 HG02257.hp2 HG02615.hp2 others(4): Show |
a0001a0002 | a0001c0004a0002c0002 | a0001c0004t0001a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0004t0001g0045a0001c0004t0001g0051a0001c0004t0001g0052others(4): Show | 7 | 344 | 0.0204 | -12 | c.187 others(29): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 3/6 | chr2 | TogoVar | ||||||
CIB4_chr2_26576205_26646366 | 26601231 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG01255.hp2 HG02074.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0004a0001c0001t0001g0012a0001c0001t0001g0018others(9): Show | 13 | 344 | 0.0378 | -12 | c.187 others(29): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 3/6 | chr2 | TogoVar | ||||||
CIDEA_chr18_12249361_12282595 | 12252610 | TTATCTAT others(5): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00423.hp2 others(118): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0014a0001c0001t0001g0016others(105): Show | 121 | 448 | 0.2701 | -12 | c.-17 others(23): Show |
CIDEA | ENSG00000176194.18 | transcript | ENST00000320477.10 | protein_coding | 1750 | chr18 | TogoVar | ||||||
CIDEA_chr18_12249361_12282595 | 12260175 | TTTTGTTT others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(415): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(379): Show | 418 | 448 | 0.9330 | -12 | c.39- others(27): Show |
CIDEA | ENSG00000176194.18 | transcript | ENST00000320477.10 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CIDEA_chr18_12249361_12282595 | 12270688 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02717.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190a0001c0001t0001g0404 | 2 | 448 | 0.0045 | -12 | c.331 others(29): Show |
CIDEA | ENSG00000176194.18 | transcript | ENST00000320477.10 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CIDEC_chr3_9861714_9885253 | 9874518 | AAATAATA others(5): Show |
A | intron_variant | MODIFIER | HG02559.hp2 HG02717.hp1 HG02818.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0037a0001c0002t0001g0097a0001c0002t0001g0099others(3): Show | 7 | 410 | 0.0171 | -12 | c.207 others(29): Show |
CIDEC | ENSG00000187288.12 | transcript | ENST00000336832.7 | protein_coding | 4/6 | chr3 | TogoVar | ||||||
CIDEC_chr3_9861714_9885253 | 9883168 | CTTTTTTT others(5): Show |
C | upstream_gene_variant | MODIFIER | HG03139.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 2 | 410 | 0.0049 | -12 | c.-30 others(23): Show |
CIDEC | ENSG00000187288.12 | transcript | ENST00000336832.7 | protein_coding | 2916 | chr3 | TogoVar | ||||||
CIITA_chr16_10872202_10941394 | 10877200 | TTAGTGAT others(5): Show |
T | 5_prime_UTR_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0134 | a0001c0001t0134g0061 | 1 | 392 | 0.0026 | -12 | c.-11 others(21): Show |
CIITA | ENSG00000179583.21 | transcript | ENST00000324288.14 | protein_coding | 1/20 | 106 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||
CIITA_chr16_10872202_10941394 | 10893804 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG00558.hp2 NA18987.hp1 |
a0001 | a0001c0001a0001c0032 | a0001c0001t0003a0001c0032t0002 | a0001c0001t0003g0277a0001c0032t0002g0339 | 2 | 392 | 0.0051 | -12 | c.53- others(27): Show |
CIITA | ENSG00000179583.21 | transcript | ENST00000324288.14 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CIITA_chr16_10872202_10941394 | 10919503 | CTTATTTA others(5): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG02135.hp2 HG02735.hp2 others(10): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0047a0002c0002t0003a0002c0002t0007others(4): Show | a0001c0001t0047g0250a0002c0002t0003g0083a0002c0002t0003g0242others(10): Show | 13 | 392 | 0.0332 | -12 | c.314 others(30): Show |
CIITA | ENSG00000179583.21 | transcript | ENST00000324288.14 | protein_coding | 16/19 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CILK1_chr6_52996303_53066824 | 52997120 | AACACACA others(5): Show |
A | downstream_gene_variant | MODIFIER | HG00323.hp1 NA18978.hp1 NA18987.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0072a0001c0002t0001g0001a0001c0002t0001g0044others(3): Show | 8 | 244 | 0.0328 | -12 | c.*80 others(23): Show |
CILK1 | ENSG00000112144.16 | transcript | ENST00000676107.1 | protein_coding | 4182 | chr6 | TogoVar | ||||||
CILP2_chr19_19533265_19551659 | 19534321 | TACAGACA others(5): Show |
T | upstream_gene_variant | MODIFIER | NA20805.hp1 | a0007 | a0007c0013 | a0007c0013t0001 | a0007c0013t0001g0001 | 1 | 352 | 0.0028 | -12 | c.-40 others(23): Show |
CILP2 | ENSG00000160161.9 | transcript | ENST00000291495.5 | protein_coding | 3943 | chr19 | TogoVar | ||||||
CINP_chr14_102343282_102367890 | 102359227 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0102 | 1 | 420 | 0.0024 | -12 | c.176 others(27): Show |
CINP | ENSG00000100865.15 | transcript | ENST00000216756.11 | protein_coding | 2/4 | chr14 | TogoVar | ||||||
CIPC_chr14_77093258_77122287 | 77119147 | GTTTTTTT others(5): Show |
G | downstream_gene_variant | MODIFIER | HG02895.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0005 | 2 | 426 | 0.0047 | -12 | c.*48 others(23): Show |
CIPC | ENSG00000198894.8 | transcript | ENST00000361786.7 | protein_coding | 1861 | chr14 | TogoVar |