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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CLTCL1_chr22_19174473_19296719 | 19295843 | G | GAACTGAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(340): Show |
a0001a0002a0003others(19): Show | a0001c0002a0001c0003a0001c0004others(28): Show | a0001c0002t0001a0001c0003t0001a0001c0004t0001others(29): Show | a0001c0002t0001g0005 a0001c0002t0001g0008 a0001c0002t0001g0009 others(325): Show |
343 | 344 | 0.9971 | 9 | c.-42 others(20): Show |
CLTCL1 | ENSG00000070371.16 | transcript | ENST00000427926.6 | protein_coding | 4125 | chr22 | TogoVar | |||||||
CLUAP1_chr16_3496004_3544048 | 3529595 | T | TATAATAT others(2): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01496.hp2 HG01516.hp1 others(19): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0060 a0001c0001t0001g0066 others(15): Show |
22 | 371 | 0.0593 | 9 | c.929 others(24): Show |
CLUAP1 | ENSG00000103351.13 | transcript | ENST00000576634.6 | protein_coding | 9/11 | chr16 | TogoVar | |||||||
CLUAP1_chr16_3496004_3544048 | 3529714 | A | ATATTATT others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01099.hp1 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0159 a0001c0001t0011g0160 a0001c0001t0011g0161 |
3 | 373 | 0.0080 | 9 | c.929 others(24): Show |
CLUAP1 | ENSG00000103351.13 | transcript | ENST00000576634.6 | protein_coding | 9/11 | chr16 | TogoVar | |||||||
CLUH_chr17_2684387_2716764 | 2693141 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01891.hp2 HG01978.hp1 others(13): Show |
a0001a0010 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0001a0001c0004t0003a0001c0004t0004others(2): Show | a0001c0001t0001g0052 a0001c0001t0001g0127 a0001c0001t0001g0144 others(13): Show |
16 | 19 | 0.8421 | 9 | c.323 others(26): Show |
CLUH | ENSG00000132361.18 | transcript | ENST00000651024.2 | protein_coding | 19/25 | chr17 | TogoVar | |||||||
CLYBL_chr13_99601690_99897570 | 99684035 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01981.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0038 a0001c0001t0001g0076 a0001c0001t0001g0099 others(8): Show |
11 | 79 | 0.1392 | 9 | c.62+ others(26): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99716169 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01981.hp1 HG02109.hp2 others(4): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0008 | a0001c0001t0001a0002c0002t0001a0006c0008t0001 | a0001c0001t0001g0006 a0001c0001t0001g0086 a0001c0001t0001g0154 others(4): Show |
7 | 57 | 0.1228 | 9 | c.63- others(26): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99754416 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00609.hp2 HG01074.hp1 others(21): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(2): Show | a0001c0001t0001g0012 a0001c0001t0001g0048 a0001c0001t0001g0071 others(21): Show |
24 | 143 | 0.1678 | 9 | c.63- others(26): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99794581 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00609.hp1 others(41): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(41): Show |
44 | 78 | 0.5641 | 9 | c.249 others(28): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99833031 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG01928.hp2 HG02572.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 a0001c0001t0001g0218 |
2 | 170 | 0.0118 | 9 | c.250 others(28): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 2/8 | chr13 | TogoVar | |||||||
CMAS_chr12_22041218_22070668 | 22060333 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00544.hp2 others(54): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 a0001c0002t0001g0032 a0001c0002t0001g0056 others(20): Show |
57 | 92 | 0.6196 | 9 | c.694 others(24): Show |
CMAS | ENSG00000111726.13 | transcript | ENST00000229329.7 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CMBL_chr5_10272595_10312902 | 10308390 | A | ATTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00558.hp2 HG00741.hp1 HG02300.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0002a0001c0002t0003 | a0001c0001t0004g0228 a0001c0002t0002g0230 a0001c0002t0002g0239 others(3): Show |
6 | 137 | 0.0438 | 9 | c.-78 others(18): Show |
CMBL | ENSG00000164237.9 | transcript | ENST00000296658.4 | protein_coding | 489 | chr5 | TogoVar | |||||||
CMC2_chr16_80961448_81011885 | 80963722 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG01257.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0047a0001c0001t0113a0002c0002t0025others(4): Show | a0001c0001t0047g0212 a0001c0001t0047g0214 a0001c0001t0113g0204 others(5): Show |
8 | 122 | 0.0656 | 9 | c.*12 others(22): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 2725 | chr16 | TogoVar | |||||||
CMC2_chr16_80961448_81011885 | 80971562 | T | TATATATA others(2): Show |
3_prime_UTR_variant | MODIFIER | HG01257.hp1 HG01258.hp2 HG03540.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0018a0001c0001t0105others(1): Show | a0001c0001t0002g0002 a0001c0001t0002g0037 a0001c0001t0002g0186 others(5): Show |
9 | 289 | 0.0311 | 9 | c.*45 others(20): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 4/4 | 4530 | chr16 | TogoVar | ||||||
CMC2_chr16_80961448_81011885 | 80978072 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp2 others(100): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0004a0002c0002t0005others(38): Show | a0002c0002t0003g0004 a0002c0002t0003g0007 a0002c0002t0003g0028 others(79): Show |
103 | 314 | 0.3280 | 9 | c.154 others(26): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 3/3 | chr16 | TogoVar | |||||||
CMIP_chr16_81439808_81716762 | 81490787 | T | TCTGGGTA others(2): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01433.hp1 HG02109.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0004 a0001c0001t0001g0166 a0001c0001t0001g0167 others(7): Show |
10 | 266 | 0.0376 | 9 | c.300 others(28): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CMIP_chr16_81439808_81716762 | 81568039 | G | GTGTGTGT others(2): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01168.hp1 HG01169.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014a0001c0001t0024others(1): Show | a0001c0001t0001g0048 a0001c0001t0001g0066 a0001c0001t0014g0267 others(2): Show |
5 | 124 | 0.0403 | 9 | c.301 others(28): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CMIP_chr16_81439808_81716762 | 81654231 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01243.hp1 HG02109.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0186 a0001c0001t0004g0095 others(3): Show |
6 | 251 | 0.0239 | 9 | c.639 others(26): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CMKLR2_chr2_206170316_206218371 | 206180734 | C | CATTATTA others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00558.hp2 others(82): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0058 a0001c0001t0001g0073 a0001c0001t0001g0079 others(80): Show |
85 | 95 | 0.8947 | 9 | c.-28 others(26): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
CMKLR2_chr2_206170316_206218371 | 206207728 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00558.hp1 others(44): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(44): Show |
47 | 53 | 0.8868 | 9 | c.-29 others(26): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
CMPK1_chr1_47328790_47383839 | 47365633 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01884.hp2 HG03041.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0018 a0001c0001t0001g0225 a0001c0001t0001g0275 others(4): Show |
8 | 11 | 0.7273 | 9 | c.172 others(26): Show |
CMPK1 | ENSG00000162368.15 | transcript | ENST00000371873.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CMPK1_chr1_47328790_47383839 | 47380250 | G | GTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00673.hp2 HG02080.hp1 HG02258.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0015a0002c0002t0001a0002c0002t0019 | a0001c0001t0015g0124 a0002c0002t0001g0006 a0002c0002t0001g0207 others(6): Show |
10 | 188 | 0.0532 | 9 | c.*35 others(20): Show |
CMPK1 | ENSG00000162368.15 | transcript | ENST00000371873.10 | protein_coding | 1412 | chr1 | TogoVar | |||||||
CMSS1_chr3_99812862_100186732 | 99957693 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01256.hp2 HG02080.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0150 a0001c0001t0002g0152 a0001c0001t0002g0156 others(3): Show |
6 | 37 | 0.1622 | 9 | c.64+ others(28): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMSS1_chr3_99812862_100186732 | 100013214 | G | GTGTTGTT others(2): Show |
intron_variant | MODIFIER | HG02132.hp2 HG02486.hp1 HG02922.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010 | a0001c0001t0001g0162 a0001c0001t0002g0044 a0001c0001t0002g0045 others(5): Show |
8 | 123 | 0.0650 | 9 | c.65- others(28): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMSS1_chr3_99812862_100186732 | 100074675 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG01123.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0001g0020 a0001c0001t0001g0161 a0001c0001t0001g0169 others(20): Show |
23 | 39 | 0.5897 | 9 | c.65- others(26): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMTM2_chr16_66574463_66593275 | 66589896 | A | ATAGAAAC others(2): Show |
downstream_gene_variant | MODIFIER | HG02451.hp1 HG02809.hp1 HG03225.hp2 |
a0002 | a0002c0002a0002c0005 | a0002c0002t0001a0002c0005t0001 | a0002c0002t0001g0026 a0002c0002t0001g0044 a0002c0005t0001g0041 |
3 | 408 | 0.0074 | 9 | c.*17 others(20): Show |
CMTM2 | ENSG00000140932.10 | transcript | ENST00000268595.3 | protein_coding | 1622 | chr16 | TogoVar | |||||||
CMTM5_chr14_23372046_23384772 | 23374733 | T | TCTTTCTT others(2): Show |
upstream_gene_variant | MODIFIER | HG02615.hp2 HG03139.hp1 NA19240.hp1 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0001 | a0001c0002t0001g0001 a0002c0003t0001g0001 |
3 | 413 | 0.0073 | 9 | c.-25 others(20): Show |
CMTM5 | ENSG00000166091.21 | transcript | ENST00000339180.9 | protein_coding | 2312 | chr14 | TogoVar | |||||||
CMTM7_chr3_32386853_32460528 | 32457633 | G | GAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00639.hp1 HG02615.hp1 HG02630.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0001g0306 a0001c0001t0004g0063 a0001c0001t0005g0013 others(7): Show |
11 | 161 | 0.0683 | 9 | c.*33 others(20): Show |
CMTM7 | ENSG00000153551.14 | transcript | ENST00000334983.10 | protein_coding | 2106 | chr3 | TogoVar | |||||||
CMTM8_chr3_32233680_32375321 | 32348529 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00558.hp1 others(146): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(145): Show |
149 | 178 | 0.8371 | 9 | c.148 others(26): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMTM8_chr3_32233680_32375321 | 32362046 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00544.hp1 others(138): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 others(137): Show |
141 | 154 | 0.9156 | 9 | c.321 others(26): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMYA5_chr5_79684836_79805222 | 79688942 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG02809.hp2 HG02976.hp2 HG03490.hp2 others(4): Show |
a0001a0002a0007others(3): Show | a0001c0001a0001c0056a0002c0002others(4): Show | a0001c0001t0001a0001c0056t0001a0002c0002t0006others(4): Show | a0001c0001t0001g0257 a0001c0056t0001g0090 a0002c0002t0006g0120 others(4): Show |
7 | 48 | 0.1458 | 9 | c.-96 others(18): Show |
CMYA5 | ENSG00000164309.15 | transcript | ENST00000446378.3 | protein_coding | 893 | chr5 | TogoVar | |||||||
CMYA5_chr5_79684836_79805222 | 79701090 | C | CCAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00621.hp1 HG00741.hp2 others(63): Show |
a0001a0002a0003others(21): Show | a0001c0001a0001c0033a0002c0002others(28): Show | a0001c0001t0001a0001c0001t0002a0001c0033t0001others(37): Show | a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0013 others(63): Show |
66 | 210 | 0.3143 | 9 | c.149 others(28): Show |
CMYA5 | ENSG00000164309.15 | transcript | ENST00000446378.3 | protein_coding | 1/12 | chr5 | TogoVar | |||||||
CMYA5_chr5_79684836_79805222 | 79714431 | C | CTTTTTCT others(2): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01243.hp2 HG02040.hp2 others(14): Show |
a0001a0002a0004others(3): Show | a0001c0058a0002c0002a0004c0014others(3): Show | a0001c0058t0002a0002c0002t0001a0002c0002t0002others(4): Show | a0001c0058t0002g0339 a0002c0002t0001g0127 a0002c0002t0001g0128 others(14): Show |
17 | 164 | 0.1037 | 9 | c.150 others(28): Show |
CMYA5 | ENSG00000164309.15 | transcript | ENST00000446378.3 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CMYA5_chr5_79684836_79805222 | 79726909 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02451.hp1 HG02615.hp1 others(4): Show |
a0009a0029a0062others(1): Show | a0009c0009a0029c0095a0062c0103others(1): Show | a0009c0009t0001a0009c0009t0014a0029c0095t0003others(2): Show | a0009c0009t0001g0264 a0009c0009t0001g0346 a0009c0009t0001g0357 others(4): Show |
7 | 163 | 0.0429 | 9 | c.150 others(26): Show |
CMYA5 | ENSG00000164309.15 | transcript | ENST00000446378.3 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 86940131 | A | ACTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01167.hp2 HG02486.hp2 others(10): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0005others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0005t0001others(2): Show | a0001c0001t0001g0087 a0002c0002t0001g0083 a0002c0002t0001g0085 others(10): Show |
13 | 152 | 0.0855 | 9 | c.431 others(24): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 86940132 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01069.hp1 HG01109.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0024 others(4): Show |
7 | 27 | 0.2593 | 9 | c.431 others(24): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 86951581 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01069.hp1 HG02647.hp2 others(4): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0100 others(4): Show |
7 | 9 | 0.7778 | 9 | c.431 others(28): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 87072582 | A | AAGTTTCA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00639.hp1 others(20): Show |
a0001a0007 | a0001c0001a0007c0011 | a0001c0001t0001a0007c0011t0001 | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 others(20): Show |
23 | 152 | 0.1513 | 9 | c.431 others(30): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | chr8 | TogoVar | |||||||
CNBD1_chr8_86861415_87387859 | 87129069 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01070.hp1 HG01081.hp1 others(8): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0017 others(8): Show |
11 | 13 | 0.8462 | 9 | c.432 others(28): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 87256016 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02040.hp1 NA18941.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 a0001c0001t0001g0096 a0001c0001t0001g0109 |
3 | 139 | 0.0216 | 9 | c.771 others(28): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 6/10 | chr8 | TogoVar | |||||||
CNBD2_chr20_35963590_36035700 | 36022195 | C | CTTTTTCT others(2): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02738.hp2 HG03516.hp1 others(8): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0002c0002t0002a0003c0003t0001 | a0002c0002t0001g0024 a0002c0002t0001g0041 a0002c0002t0001g0051 others(8): Show |
11 | 100 | 0.1100 | 9 | c.127 others(28): Show |
CNBD2 | ENSG00000149646.12 | transcript | ENST00000373973.7 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CNBP_chr3_129162827_129188896 | 129181649 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02572.hp2 HG02622.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0011a0001c0002t0016 | a0001c0002t0011g0040 a0001c0002t0011g0197 a0001c0002t0011g0198 others(2): Show |
6 | 48 | 0.1250 | 9 | c.-15 others(26): Show |
CNBP | ENSG00000169714.17 | transcript | ENST00000422453.7 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
CNDP1_chr18_74529500_74592212 | 74535580 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00738.hp1 HG01109.hp1 others(32): Show |
a0001a0003a0004others(7): Show | a0001c0001a0003c0009a0003c0016others(16): Show | a0001c0001t0002a0001c0001t0004a0003c0009t0001others(25): Show | a0001c0001t0002g0005 a0001c0001t0004g0007 a0003c0009t0001g0034 others(32): Show |
35 | 46 | 0.7609 | 9 | c.24+ others(22): Show |
CNDP1 | ENSG00000150656.15 | transcript | ENST00000358821.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CNGA3_chr2_98341456_98403601 | 98367167 | G | GTTTATTT others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01167.hp1 HG01169.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 others(8): Show |
14 | 320 | 0.0438 | 9 | c.-37 others(26): Show |
CNGA3 | ENSG00000144191.12 | transcript | ENST00000272602.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNGB1_chr16_57877340_57976128 | 57879811 | T | TCCTTCCT others(2): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 HG01978.hp2 NA20805.hp2 |
a0001a0003 | a0001c0001a0003c0074a0003c0105 | a0001c0001t0007a0003c0074t0009a0003c0105t0014 | a0001c0001t0007g0290 a0003c0074t0009g0177 a0003c0105t0014g0298 |
3 | 184 | 0.0163 | 9 | c.*43 others(20): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 2528 | chr16 | TogoVar | |||||||
CNGB3_chr8_86569179_86748634 | 86693432 | A | ATTTATTT others(2): Show |
intron_variant | MODIFIER | HG02071.hp1 NA18942.hp2 NA18943.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 a0001c0001t0001g0275 a0001c0001t0001g0276 |
3 | 179 | 0.0168 | 9 | c.339 others(28): Show |
CNGB3 | ENSG00000170289.13 | transcript | ENST00000320005.6 | protein_coding | 3/17 | chr8 | TogoVar | |||||||
CNGB3_chr8_86569179_86748634 | 86735144 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00733.hp1 others(21): Show |
a0001a0002a0006others(2): Show | a0001c0001a0002c0002a0006c0006others(2): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(6): Show | a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0003g0171 others(21): Show |
24 | 251 | 0.0956 | 9 | c.211 others(26): Show |
CNGB3 | ENSG00000170289.13 | transcript | ENST00000320005.6 | protein_coding | 2/17 | chr8 | TogoVar | |||||||
CNKSR3_chr6_154382515_154515685 | 154409881 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02895.hp2 NA18944.hp1 NA18951.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0076a0001c0001t0097others(2): Show | a0001c0001t0006g0127 a0001c0001t0006g0170 a0001c0001t0006g0172 others(4): Show |
7 | 244 | 0.0287 | 9 | c.136 others(26): Show |
CNKSR3 | ENSG00000153721.19 | transcript | ENST00000607772.6 | protein_coding | 12/12 | chr6 | TogoVar | |||||||
CNN1_chr19_11533851_11555323 | 11537482 | A | AAATAATA others(2): Show |
upstream_gene_variant | MODIFIER | HG01074.hp1 HG01168.hp2 HG01169.hp1 others(25): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(3): Show | a0001c0001t0001g0151 a0001c0001t0002g0019 a0001c0001t0002g0046 others(21): Show |
28 | 284 | 0.0986 | 9 | c.-14 others(20): Show |
CNN1 | ENSG00000130176.8 | transcript | ENST00000252456.7 | protein_coding | 1368 | chr19 | TogoVar | |||||||
CNN1_chr19_11533851_11555323 | 11537482 | A | AATTAATA others(2): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 HG02451.hp2 HG02486.hp2 others(14): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0002a0003c0007t0002 | a0001c0001t0002g0004 a0001c0001t0002g0073 a0001c0001t0002g0074 others(6): Show |
17 | 273 | 0.0623 | 9 | c.-14 others(20): Show |
CNN1 | ENSG00000130176.8 | transcript | ENST00000252456.7 | protein_coding | 1368 | chr19 | TogoVar | |||||||
CNNM1_chr10_99324356_99399330 | 99356600 | G | GAAAGAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG01943.hp2 others(7): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0144 a0001c0001t0003g0132 a0001c0001t0003g0147 others(7): Show |
10 | 267 | 0.0375 | 9 | c.157 others(26): Show |
CNNM1 | ENSG00000119946.12 | transcript | ENST00000356713.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |