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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CMTM8_chr3_32233680_32375321 | 32361286 | G | GTTTGTTT others(7): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG02040.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028a0001c0001t0001g0060a0001c0001t0001g0101others(10): Show | 13 | 344 | 0.0378 | 14 | c.321 others(31): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMTM8_chr3_32233680_32375321 | 32362046 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00741.hp1 HG00741.hp2 HG02622.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0160a0001c0001t0001g0234others(1): Show | 4 | 344 | 0.0116 | 14 | c.321 others(31): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMTR1_chr6_37428221_37486508 | 37464892 | C | CTGTGTGT others(7): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0176 | 1 | 358 | 0.0028 | 14 | c.150 others(33): Show |
CMTR1 | ENSG00000137200.13 | transcript | ENST00000373451.9 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CMYA5_chr5_79684836_79805222 | 79688942 | C | CAAAAAAA others(7): Show |
upstream_gene_variant | MODIFIER | NA18984.hp1 | a0068 | a0068c0061 | a0068c0061t0001 | a0068c0061t0001g0005 | 1 | 358 | 0.0028 | 14 | c.-96 others(23): Show |
CMYA5 | ENSG00000164309.15 | transcript | ENST00000446378.3 | protein_coding | 893 | chr5 | TogoVar | ||||||
CMYA5_chr5_79684836_79805222 | 79726909 | A | ATTTTTTT others(7): Show |
intron_variant | MODIFIER | HG04199.hp2 NA18522.hp1 |
a0004a0009 | a0004c0006a0009c0009 | a0004c0006t0001a0009c0009t0001 | a0004c0006t0001g0078a0009c0009t0001g0014 | 2 | 358 | 0.0056 | 14 | c.150 others(31): Show |
CMYA5 | ENSG00000164309.15 | transcript | ENST00000446378.3 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CMYA5_chr5_79684836_79805222 | 79778811 | C | CTGTGTGT others(7): Show |
intron_variant | MODIFIER | NA19080.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0128 | 1 | 358 | 0.0028 | 14 | c.115 others(37): Show |
CMYA5 | ENSG00000164309.15 | transcript | ENST00000446378.3 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 86870189 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02486.hp1 HG03209.hp2 HG03453.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0032a0001c0001t0001g0081a0001c0001t0001g0087others(1): Show | 4 | 152 | 0.0263 | 14 | c.88+ others(29): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 86874986 | T | TTATATAT others(7): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02622.hp2 NA19043.hp1 |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0005c0007t0002 | a0001c0001t0001g0076a0001c0001t0001g0088a0005c0007t0002g0144 | 3 | 152 | 0.0197 | 14 | c.88+ others(29): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 86874986 | T | TTTTATAT others(7): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0006 | 1 | 152 | 0.0066 | 14 | c.88+ others(29): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 86878080 | C | CTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02809.hp1 HG02818.hp1 others(5): Show |
a0001a0008 | a0001c0001a0008c0011 | a0001c0001t0001a0001c0001t0002a0008c0011t0001 | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0001g0037others(5): Show | 8 | 152 | 0.0526 | 14 | c.89- others(29): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 86878105 | T | TGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 152 | 0.0066 | 14 | c.89- others(29): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 86878105 | T | TGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01070.hp2 HG02683.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065a0001c0001t0001g0139a0001c0001t0001g0140others(1): Show | 4 | 152 | 0.0263 | 14 | c.89- others(29): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 86908800 | T | TTTGAGAC others(7): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01257.hp2 HG02630.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0039a0001c0001t0001g0142others(1): Show | 4 | 152 | 0.0263 | 14 | c.272 others(31): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 86951581 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 152 | 0.0066 | 14 | c.431 others(33): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 87129069 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02809.hp1 NA18522.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0103a0001c0001t0001g0104a0001c0001t0002g0069 | 3 | 152 | 0.0197 | 14 | c.432 others(33): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 87241268 | A | ATTTTTTT others(7): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01243.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020a0001c0001t0001g0073 | 2 | 152 | 0.0132 | 14 | c.771 others(31): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 87256015 | A | ATATATAT others(7): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0005 | a0005c0007 | a0005c0007t0002 | a0005c0007t0002g0144 | 1 | 152 | 0.0066 | 14 | c.771 others(33): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 87361689 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | HG01167.hp2 HG03195.hp1 NA19043.hp2 |
a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0082a0002c0005t0001g0084a0002c0005t0001g0086 | 3 | 152 | 0.0197 | 14 | c.130 others(33): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 87377184 | G | GGTACATG others(7): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 152 | 0.0066 | 14 | c.130 others(33): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD2_chr20_35963590_36035700 | 36007527 | C | CCTTGAAA others(7): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0100 | 1 | 268 | 0.0037 | 14 | c.971 others(29): Show |
CNBD2 | ENSG00000149646.12 | transcript | ENST00000373973.7 | protein_coding | 8/11 | chr20 | TogoVar | ||||||
CNBD2_chr20_35963590_36035700 | 36014182 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02818.hp1 HG02896.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0121a0001c0001t0002g0012a0001c0001t0002g0013others(1): Show | 4 | 268 | 0.0149 | 14 | c.126 others(33): Show |
CNBD2 | ENSG00000149646.12 | transcript | ENST00000373973.7 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CNBD2_chr20_35963590_36035700 | 36028685 | G | GTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00544.hp1 others(37): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0005others(4): Show | a0001c0001t0001a0002c0002t0001a0002c0005t0001others(4): Show | a0001c0001t0001g0117a0001c0001t0001g0218a0001c0001t0001g0228others(36): Show | 40 | 268 | 0.1493 | 14 | c.144 others(33): Show |
CNBD2 | ENSG00000149646.12 | transcript | ENST00000373973.7 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CNBD2_chr20_35963590_36035700 | 36035137 | G | GACACACA others(7): Show |
downstream_gene_variant | MODIFIER | HG03491.hp1 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130a0001c0001t0001g0183 | 2 | 268 | 0.0075 | 14 | c.*44 others(25): Show |
CNBD2 | ENSG00000149646.12 | transcript | ENST00000373973.7 | protein_coding | 4438 | chr20 | TogoVar | ||||||
CNBP_chr3_129162827_129188896 | 129172691 | G | GGCAGGCA others(7): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0362 | 1 | 430 | 0.0023 | 14 | c.-14 others(29): Show |
CNBP | ENSG00000169714.17 | transcript | ENST00000422453.7 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
CNBP_chr3_129162827_129188896 | 129172695 | G | GACACACA others(7): Show |
intron_variant | MODIFIER | HG02071.hp1 NA19011.hp1 NA19065.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0001g0043a0001c0001t0004g0143a0001c0001t0006g0047others(1): Show | 4 | 430 | 0.0093 | 14 | c.-14 others(29): Show |
CNBP | ENSG00000169714.17 | transcript | ENST00000422453.7 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
CNBP_chr3_129162827_129188896 | 129181239 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | NA18939.hp1 NA18966.hp2 |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0337a0001c0002t0005g0350 | 2 | 430 | 0.0047 | 14 | c.-15 others(31): Show |
CNBP | ENSG00000169714.17 | transcript | ENST00000422453.7 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
CNBP_chr3_129162827_129188896 | 129181649 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00735.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0010a0001c0001t0001g0034a0001c0001t0001g0185others(23): Show | 28 | 430 | 0.0651 | 14 | c.-15 others(31): Show |
CNBP | ENSG00000169714.17 | transcript | ENST00000422453.7 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
CNDP1_chr18_74529500_74592212 | 74533470 | T | TTCATCTC others(7): Show |
upstream_gene_variant | MODIFIER | NA18983.hp2 | a0009 | a0009c0023 | a0009c0023t0009 | a0009c0023t0009g0040 | 1 | 390 | 0.0026 | 14 | c.-11 others(25): Show |
CNDP1 | ENSG00000150656.15 | transcript | ENST00000358821.8 | protein_coding | 1029 | chr18 | TogoVar | ||||||
CNDP1_chr18_74529500_74592212 | 74535580 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(172): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0008others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(63): Show | a0001c0001t0001g0143a0001c0001t0001g0152a0001c0001t0001g0153others(169): Show | 175 | 390 | 0.4487 | 14 | c.24+ others(27): Show |
CNDP1 | ENSG00000150656.15 | transcript | ENST00000358821.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CNDP1_chr18_74529500_74592212 | 74551361 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02809.hp2 HG03195.hp1 |
a0006a0012a0023 | a0006c0022a0012c0036a0023c0039 | a0006c0022t0001a0012c0036t0002a0023c0039t0011 | a0006c0022t0001g0058a0012c0036t0002g0106a0023c0039t0011g0107 | 3 | 390 | 0.0077 | 14 | c.25- others(29): Show |
CNDP1 | ENSG00000150656.15 | transcript | ENST00000358821.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CNDP1_chr18_74529500_74592212 | 74570218 | T | TAATAATA others(7): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01167.hp2 HG01891.hp2 others(17): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0004a0002c0013others(10): Show | a0001c0001t0031a0002c0004t0001a0002c0004t0002others(15): Show | a0001c0001t0031g0016a0002c0004t0001g0280a0002c0004t0002g0109others(17): Show | 20 | 390 | 0.0513 | 14 | c.757 others(29): Show |
CNDP1 | ENSG00000150656.15 | transcript | ENST00000358821.8 | protein_coding | 6/11 | chr18 | TogoVar | ||||||
CNDP1_chr18_74529500_74592212 | 74575831 | A | ATGTATGT others(7): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG01168.hp1 |
a0002 | a0002c0003a0002c0004 | a0002c0003t0001a0002c0004t0001a0002c0004t0005 | a0002c0003t0001g0223a0002c0004t0001g0064a0002c0004t0005g0138 | 3 | 390 | 0.0077 | 14 | c.842 others(31): Show |
CNDP1 | ENSG00000150656.15 | transcript | ENST00000358821.8 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CNDP1_chr18_74529500_74592212 | 74581218 | C | CTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0012 | a0012c0029 | a0012c0029t0004 | a0012c0029t0004g0012 | 1 | 390 | 0.0026 | 14 | c.130 others(31): Show |
CNDP1 | ENSG00000150656.15 | transcript | ENST00000358821.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CNGA2_chrX_151729746_151750564 | 151743028 | G | GTATATAT others(7): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01891.hp2 HG02109.hp2 others(4): Show |
a0004 | a0004c0005a0004c0024 | a0004c0005t0005a0004c0024t0005 | a0004c0005t0005g0022a0004c0005t0005g0094a0004c0005t0005g0098others(3): Show | 7 | 336 | 0.0208 | 14 | c.590 others(27): Show |
CNGA2 | ENSG00000183862.6 | transcript | ENST00000329903.5 | protein_coding | 6/6 | chrX | TogoVar | ||||||
CNGA4_chr11_6234089_6249479 | 6247043 | C | CAAAAAAA others(7): Show |
downstream_gene_variant | MODIFIER | HG02451.hp2 | a0008 | a0008c0020 | a0008c0020t0001 | a0008c0020t0001g0001 | 1 | 412 | 0.0024 | 14 | c.*26 others(25): Show |
CNGA4 | ENSG00000132259.13 | transcript | ENST00000379936.3 | protein_coding | 2565 | chr11 | TogoVar | ||||||
CNGB1_chr16_57877340_57976128 | 57879741 | T | TTTTTTCT others(7): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG03017.hp1 |
a0001a0002 | a0001c0001a0002c0037 | a0001c0001t0012a0002c0037t0003 | a0001c0001t0012g0212a0002c0037t0003g0023 | 2 | 360 | 0.0056 | 14 | c.*44 others(25): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 2598 | chr16 | TogoVar | ||||||
CNGB1_chr16_57877340_57976128 | 57879788 | T | TCCTTCCT others(7): Show |
downstream_gene_variant | MODIFIER | HG01261.hp2 HG02055.hp2 HG06807.hp1 |
a0001a0002 | a0001c0002a0001c0041a0002c0011 | a0001c0002t0002a0001c0041t0005a0002c0011t0018 | a0001c0002t0002g0183a0001c0041t0005g0028a0002c0011t0018g0341 | 3 | 360 | 0.0083 | 14 | c.*43 others(25): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 2551 | chr16 | TogoVar | ||||||
CNGB1_chr16_57877340_57976128 | 57885557 | C | CCTCTCTC others(7): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01070.hp2 HG01071.hp1 others(11): Show |
a0001a0003a0004others(4): Show | a0001c0002a0001c0004a0001c0027others(8): Show | a0001c0002t0003a0001c0002t0005a0001c0004t0003others(9): Show | a0001c0002t0003g0031a0001c0002t0003g0038a0001c0002t0005g0184others(10): Show | 14 | 360 | 0.0389 | 14 | c.346 others(33): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 32/32 | chr16 | TogoVar | ||||||
CNGB1_chr16_57877340_57976128 | 57973399 | A | ATGCGCGT others(7): Show |
upstream_gene_variant | MODIFIER | NA18944.hp1 NA19002.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0013 | a0001c0001t0003g0208a0001c0001t0013g0206 | 2 | 360 | 0.0056 | 14 | c.-23 others(25): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 2272 | chr16 | TogoVar | ||||||
CNGB1_chr16_57877340_57976128 | 57973399 | A | ATGTGCAT others(7): Show |
upstream_gene_variant | MODIFIER | HG01069.hp1 HG01261.hp1 HG01496.hp1 others(7): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0018others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0235a0001c0001t0001g0260a0001c0001t0002g0252others(7): Show | 10 | 360 | 0.0278 | 14 | c.-23 others(25): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 2272 | chr16 | TogoVar | ||||||
CNGB1_chr16_57877340_57976128 | 57973399 | A | ATGTGCGT others(7): Show |
upstream_gene_variant | MODIFIER | HG01515.hp2 HG01517.hp1 HG01891.hp2 others(9): Show |
a0001a0003a0004others(4): Show | a0001c0003a0001c0004a0001c0007others(8): Show | a0001c0003t0012a0001c0004t0035a0001c0007t0003others(8): Show | a0001c0003t0012g0204a0001c0004t0035g0079a0001c0007t0003g0004others(9): Show | 12 | 360 | 0.0333 | 14 | c.-23 others(25): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 2272 | chr16 | TogoVar | ||||||
CNGB1_chr16_57877340_57976128 | 57973399 | A | ATGTGTGT others(7): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 NA19030.hp2 |
a0001a0009 | a0001c0002a0009c0026 | a0001c0002t0022a0009c0026t0004 | a0001c0002t0022g0062a0009c0026t0004g0059 | 2 | 360 | 0.0056 | 14 | c.-23 others(25): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 2272 | chr16 | TogoVar | ||||||
CNIH2_chr11_66273175_66289206 | 66284466 | T | TAGACGCA others(7): Show |
downstream_gene_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 420 | 0.0024 | 14 | c.*86 others(23): Show |
CNIH2 | ENSG00000174871.11 | transcript | ENST00000311445.7 | protein_coding | 261 | chr11 | TogoVar | ||||||
CNIH3_chr1_224611317_224745554 | 224646142 | A | AAGACGTA others(7): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(228): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0036others(220): Show | 231 | 358 | 0.6453 | 14 | c.81+ others(31): Show |
CNIH3 | ENSG00000143786.8 | transcript | ENST00000272133.4 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
CNKSR2_chrX_21369418_21659689 | 21473745 | G | GTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0151 | 1 | 163 | 0.0061 | 14 | c.561 others(31): Show |
CNKSR2 | ENSG00000149970.16 | transcript | ENST00000379510.5 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CNKSR3_chr6_154382515_154515685 | 154415228 | A | ATTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0004 | a0001c0004t0175 | a0001c0004t0175g0057 | 1 | 342 | 0.0029 | 14 | c.946 others(29): Show |
CNKSR3 | ENSG00000153721.19 | transcript | ENST00000607772.6 | protein_coding | 9/12 | chr6 | TogoVar | ||||||
CNKSR3_chr6_154382515_154515685 | 154495542 | A | ATTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03041.hp1 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0075a0001c0001t0194a0001c0001t0196 | a0001c0001t0075g0051a0001c0001t0194g0342a0001c0001t0196g0341 | 3 | 342 | 0.0088 | 14 | c.52+ others(31): Show |
CNKSR3 | ENSG00000153721.19 | transcript | ENST00000607772.6 | protein_coding | 1/12 | chr6 | TogoVar | ||||||
CNMD_chr13_52698264_52744820 | 52701802 | G | GACACACA others(7): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 HG01243.hp2 HG02015.hp1 others(11): Show |
a0001a0006 | a0001c0001a0006c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0021others(10): Show | 14 | 330 | 0.0424 | 14 | c.*17 others(25): Show |
CNMD | ENSG00000136110.13 | transcript | ENST00000377962.8 | protein_coding | 1461 | chr13 | TogoVar | ||||||
CNN1_chr19_11533851_11555323 | 11547067 | G | GCGGGGGG others(7): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 392 | 0.0026 | 14 | c.390 others(29): Show |
CNN1 | ENSG00000130176.8 | transcript | ENST00000252456.7 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CNN1_chr19_11533851_11555323 | 11553582 | T | TACACACA others(7): Show |
downstream_gene_variant | MODIFIER | NA18959.hp1 NA19065.hp1 NA19077.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 392 | 0.0077 | 14 | c.*37 others(25): Show |
CNN1 | ENSG00000130176.8 | transcript | ENST00000252456.7 | protein_coding | 3260 | chr19 | TogoVar |