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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | a0001c0001t0001g0053a0001c0001t0001g0098a0001c0001t0001g0154others(4): Show | 7 | 218 | 0.0321 | 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 | a0001c0001t0001g0009a0001c0001t0001g0046a0001c0001t0001g0071others(21): Show | 24 | 218 | 0.1101 | 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 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(41): Show | 44 | 218 | 0.2018 | 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 | a0001c0001t0001g0032a0001c0001t0001g0218 | 2 | 218 | 0.0092 | 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 | a0001c0002t0001g0001a0001c0002t0001g0029a0001c0002t0001g0031others(23): Show | 57 | 450 | 0.1267 | 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 | a0001c0001t0004g0230a0001c0002t0002g0232a0001c0002t0002g0241others(3): Show | 6 | 350 | 0.0171 | 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 | a0001c0001t0051a0001c0001t0146a0002c0002t0030others(4): Show | a0001c0001t0051g0216a0001c0001t0051g0218a0001c0001t0146g0206others(5): Show | 8 | 408 | 0.0196 | 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 | a0001c0001t0020a0001c0001t0046a0001c0001t0123others(2): Show | a0001c0001t0020g0034a0001c0001t0020g0185a0001c0001t0020g0190others(5): Show | 9 | 408 | 0.0221 | 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 | a0002c0002t0002a0002c0002t0003a0002c0002t0004others(40): Show | a0002c0002t0002g0003a0002c0002t0002g0005a0002c0002t0002g0022others(79): Show | 103 | 408 | 0.2525 | 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 | a0001c0001t0001g0004a0001c0001t0001g0166a0001c0001t0001g0167others(7): Show | 10 | 268 | 0.0373 | 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 | a0001c0001t0001g0048a0001c0001t0001g0066a0001c0001t0014g0267others(2): Show | 5 | 268 | 0.0187 | 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 | a0001c0001t0001g0004a0001c0001t0001g0186a0001c0001t0004g0095others(3): Show | 6 | 268 | 0.0224 | 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 |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0055a0001c0001t0001g0072a0001c0001t0001g0078others(81): Show | 85 | 322 | 0.2640 | 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 |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0103a0001c0001t0001g0104a0001c0001t0001g0105others(44): Show | 47 | 322 | 0.1460 | 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 | a0001c0001t0001g0019a0001c0001t0001g0227a0001c0001t0001g0277others(4): Show | 8 | 364 | 0.0220 | 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 | a0001c0001t0015a0002c0002t0001a0002c0002t0020 | a0001c0001t0015g0125a0002c0002t0001g0017a0002c0002t0001g0018others(7): Show | 10 | 364 | 0.0275 | 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 | a0001c0001t0002g0150a0001c0001t0002g0152a0001c0001t0002g0156others(3): Show | 6 | 232 | 0.0259 | 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 | a0001c0001t0001g0161a0001c0001t0002g0044a0001c0001t0002g0045others(5): Show | 8 | 232 | 0.0345 | 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 | a0001c0001t0001g0020a0001c0001t0001g0160a0001c0001t0001g0167others(20): Show | 23 | 232 | 0.0991 | 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 | a0002c0002t0001g0026a0002c0002t0001g0044a0002c0005t0001g0041 | 3 | 410 | 0.0073 | 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 | a0001c0002t0001g0001a0002c0003t0001g0001 | 3 | 422 | 0.0071 | 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 | a0001c0001t0001g0310a0001c0001t0004g0301a0001c0001t0005g0009others(7): Show | 11 | 368 | 0.0299 | 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(147): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(147): Show | 150 | 344 | 0.4361 | 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(139): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0009others(139): Show | 142 | 344 | 0.4128 | 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 |
a0001a0002a0008others(3): Show | a0001c0001a0001c0056a0002c0002others(4): Show | a0001c0001t0001a0001c0056t0001a0002c0002t0006others(4): Show | a0001c0001t0001g0257a0001c0056t0001g0086a0002c0002t0006g0120others(4): Show | 7 | 358 | 0.0196 | 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 | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0013others(63): Show | 66 | 358 | 0.1844 | 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 | a0001c0058t0002g0339a0002c0002t0001g0127a0002c0002t0001g0128others(14): Show | 17 | 358 | 0.0475 | 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 |
a0009a0030a0049others(1): Show | a0009c0009a0030c0095a0049c0103others(1): Show | a0009c0009t0001a0009c0009t0014a0030c0095t0003others(2): Show | a0009c0009t0001g0264a0009c0009t0001g0346a0009c0009t0001g0357others(4): Show | 7 | 358 | 0.0196 | 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 |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0005others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0005t0001others(2): Show | a0001c0001t0001g0087a0002c0002t0001g0083a0002c0002t0001g0085others(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 | a0001c0001t0001g0020a0001c0001t0001g0022a0001c0001t0001g0024others(4): Show | 7 | 152 | 0.0461 | 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 | a0001c0001t0001g0015a0001c0001t0001g0020a0001c0001t0001g0100others(4): Show | 7 | 152 | 0.0461 | 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 |
a0001a0008 | a0001c0001a0008c0011 | a0001c0001t0001a0008c0011t0001 | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(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 |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0003 | a0001c0001t0001a0002c0002t0001a0004c0003t0001 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0017others(8): Show | 11 | 152 | 0.0724 | 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 | a0001c0001t0001g0024a0001c0001t0001g0096a0001c0001t0001g0109 | 3 | 152 | 0.0197 | 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 | a0002c0002t0001g0026a0002c0002t0001g0041a0002c0002t0001g0051others(8): Show | 11 | 268 | 0.0410 | 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 | a0001c0002t0011g0022a0001c0002t0011g0230a0001c0002t0011g0231others(2): Show | 6 | 430 | 0.0140 | 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 |
a0001a0004a0006others(11): Show | a0001c0001a0004c0010a0006c0009others(16): Show | a0001c0001t0002a0001c0001t0004a0004c0010t0012others(25): Show | a0001c0001t0002g0005a0001c0001t0004g0007a0004c0010t0012g0081others(32): Show | 35 | 390 | 0.0897 | 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 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(8): Show | 14 | 338 | 0.0414 | 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 | a0001c0001t0007g0290a0003c0074t0009g0177a0003c0105t0014g0298 | 3 | 360 | 0.0083 | 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 | a0001c0001t0001g0274a0001c0001t0001g0275a0001c0001t0001g0276 | 3 | 288 | 0.0104 | 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 | a0001c0001t0001g0160a0001c0001t0001g0163a0001c0001t0003g0171others(21): Show | 24 | 288 | 0.0833 | 9 | c.211 others(26): Show |
CNGB3 | ENSG00000170289.13 | transcript | ENST00000320005.6 | protein_coding | 2/17 | chr8 | TogoVar | ||||||
CNKSR2_chrX_21369418_21659689 | 21495783 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 163 | 0.0061 | 9 | c.682 others(26): Show |
CNKSR2 | ENSG00000149970.16 | transcript | ENST00000379510.5 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chrX | 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 | a0001c0001t0006a0001c0001t0078a0001c0001t0099others(2): Show | a0001c0001t0006g0107a0001c0001t0006g0109a0001c0001t0006g0244others(4): Show | 7 | 342 | 0.0205 | 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 | a0001c0001t0001g0162a0001c0001t0002g0018a0001c0001t0002g0039others(21): Show | 28 | 392 | 0.0714 | 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 | a0001c0001t0002g0004a0001c0001t0002g0066a0001c0001t0002g0068others(6): Show | 17 | 392 | 0.0434 | 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 | a0001c0001t0001g0144a0001c0001t0003g0132a0001c0001t0003g0147others(7): Show | 10 | 320 | 0.0313 | 9 | c.157 others(26): Show |
CNNM1 | ENSG00000119946.12 | transcript | ENST00000356713.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CNNM2_chr10_102913294_103095222 | 102925296 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01978.hp1 HG02074.hp1 HG02083.hp2 others(5): Show |
a0001a0002 | a0001c0003a0001c0007a0002c0004 | a0001c0003t0001a0001c0003t0007a0001c0007t0007others(1): Show | a0001c0003t0001g0124a0001c0003t0001g0127a0001c0003t0001g0170others(5): Show | 8 | 270 | 0.0296 | 9 | c.162 others(28): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CNNM2_chr10_102913294_103095222 | 102940000 | C | CAACAACA others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG00609.hp1 others(94): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0008a0001c0002t0002a0001c0002t0003others(45): Show | a0001c0001t0008g0250a0001c0001t0008g0252a0001c0002t0002g0245others(94): Show | 97 | 270 | 0.3593 | 9 | c.162 others(30): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CNNM2_chr10_102913294_103095222 | 102992273 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00673.hp1 HG00738.hp1 others(12): Show |
a0001a0002 | a0001c0002a0001c0006a0002c0004 | a0001c0002t0004a0001c0002t0013a0001c0002t0052others(3): Show | a0001c0002t0004g0176a0001c0002t0004g0180a0001c0002t0004g0255others(12): Show | 15 | 270 | 0.0556 | 9 | c.162 others(30): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CNOT10_chr3_32680188_32778875 | 32687441 | T | TTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01255.hp2 HG02074.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028a0001c0001t0001g0073a0001c0001t0001g0074others(3): Show | 6 | 354 | 0.0170 | 9 | c.22+ others(24): Show |
CNOT10 | ENSG00000182973.20 | transcript | ENST00000328834.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |