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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CMTM4_chr16_66609750_66701743 | 66649459 | C | CATCTATC others(9): Show |
intron_variant | MODIFIER | HG02055.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108a0001c0001t0001g0109 | 2 | 320 | 0.0063 | 16 | c.187 others(35): Show |
CMTM4 | ENSG00000183723.13 | transcript | ENST00000394106.7 | protein_coding | 1/3 | chr16 | TogoVar | ||||||
CMTM6_chr3_32476312_32507852 | 32477706 | C | CAAAAAAA others(9): Show |
downstream_gene_variant | MODIFIER | HG01255.hp1 HG02622.hp1 HG03017.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0016others(2): Show | a0001c0001t0001g0038a0001c0001t0008g0077a0001c0001t0016g0152others(2): Show | 6 | 384 | 0.0156 | 16 | c.*62 others(27): Show |
CMTM6 | ENSG00000091317.8 | transcript | ENST00000205636.4 | protein_coding | 3605 | chr3 | TogoVar | ||||||
CMTM7_chr3_32386853_32460528 | 32421062 | C | CCTCCTCT others(9): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03098.hp2 HG03225.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(1): Show | a0001c0001t0001g0293a0001c0001t0005g0294a0001c0001t0008g0242others(1): Show | 4 | 368 | 0.0109 | 16 | c.160 others(35): Show |
CMTM7 | ENSG00000153551.14 | transcript | ENST00000334983.10 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMTM7_chr3_32386853_32460528 | 32430681 | A | ATGTGTGT others(9): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00642.hp2 HG00733.hp1 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0029others(34): Show | 39 | 368 | 0.1060 | 16 | c.160 others(35): Show |
CMTM7 | ENSG00000153551.14 | transcript | ENST00000334983.10 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMTM7_chr3_32386853_32460528 | 32430714 | T | TGTGTGTG others(9): Show |
intron_variant | MODIFIER | HG01070.hp2 HG02148.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0229a0001c0001t0007g0341 | 2 | 368 | 0.0054 | 16 | c.160 others(35): Show |
CMTM7 | ENSG00000153551.14 | transcript | ENST00000334983.10 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMTM8_chr3_32233680_32375321 | 32273129 | A | ATGTGTGT others(9): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00733.hp2 HG00735.hp2 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0035a0001c0001t0001g0036a0001c0001t0001g0047others(38): Show | 41 | 344 | 0.1192 | 16 | c.147 others(35): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMTM8_chr3_32233680_32375321 | 32293077 | G | GTATATAT others(9): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 344 | 0.0029 | 16 | c.147 others(35): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMTM8_chr3_32233680_32375321 | 32293077 | G | GTGTGTGT others(9): Show |
intron_variant | MODIFIER | NA18979.hp1 NA19090.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238a0001c0001t0001g0255 | 2 | 344 | 0.0058 | 16 | c.147 others(35): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMTM8_chr3_32233680_32375321 | 32319074 | A | ATATATAT others(9): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0215 | 1 | 344 | 0.0029 | 16 | c.148 others(35): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMTM8_chr3_32233680_32375321 | 32319074 | A | ATATATAT others(9): Show |
intron_variant | MODIFIER | HG01192.hp1 HG04228.hp2 NA20905.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0053a0001c0001t0001g0185a0001c0001t0001g0337others(1): Show | 4 | 344 | 0.0116 | 16 | c.148 others(35): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMTM8_chr3_32233680_32375321 | 32319074 | A | ATATATTT others(9): Show |
intron_variant | MODIFIER | NA19010.hp1 NA19090.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0099a0001c0001t0002g0205 | 2 | 344 | 0.0058 | 16 | c.148 others(35): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMTM8_chr3_32233680_32375321 | 32361286 | G | GTTTGTTT others(9): Show |
intron_variant | MODIFIER | NA18978.hp2 NA19000.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0044a0001c0001t0002g0275 | 2 | 344 | 0.0058 | 16 | c.321 others(33): 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(9): Show |
upstream_gene_variant | MODIFIER | HG00621.hp1 HG01192.hp1 HG01243.hp1 others(57): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0013a0001c0033others(27): Show | a0001c0001t0001a0001c0001t0002a0001c0013t0003others(34): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0013others(57): Show | 60 | 358 | 0.1676 | 16 | c.-96 others(25): Show |
CMYA5 | ENSG00000164309.15 | transcript | ENST00000446378.3 | protein_coding | 893 | chr5 | TogoVar | ||||||
CMYA5_chr5_79684836_79805222 | 79726909 | A | ATTTTTTT others(9): Show |
intron_variant | MODIFIER | NA18945.hp1 NA18945.hp2 NA18988.hp2 |
a0002a0004 | a0002c0002a0004c0006a0004c0011 | a0002c0002t0001a0004c0006t0001a0004c0011t0001 | a0002c0002t0001g0147a0004c0006t0001g0304a0004c0011t0001g0233 | 3 | 358 | 0.0084 | 16 | c.150 others(33): Show |
CMYA5 | ENSG00000164309.15 | transcript | ENST00000446378.3 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CMYA5_chr5_79684836_79805222 | 79802197 | T | TCCTCTTC others(9): Show |
downstream_gene_variant | MODIFIER | NA18997.hp1 | a0004 | a0004c0006 | a0004c0006t0002 | a0004c0006t0002g0055 | 1 | 358 | 0.0028 | 16 | c.*25 others(27): Show |
CMYA5 | ENSG00000164309.15 | transcript | ENST00000446378.3 | protein_coding | 1976 | chr5 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 86870189 | C | CCTTTTTT others(9): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01109.hp1 HG01243.hp1 others(6): Show |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0001a0004c0003t0001a0004c0003t0002 | a0001c0001t0001g0015a0001c0001t0001g0018a0001c0001t0001g0019others(6): Show | 9 | 152 | 0.0592 | 16 | c.88+ others(31): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 86870189 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01192.hp1 HG01243.hp2 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(3): Show | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0073others(10): Show | 13 | 152 | 0.0855 | 16 | c.88+ others(31): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 86874983 | A | AATCTATA others(9): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0145 | 1 | 152 | 0.0066 | 16 | c.88+ others(31): 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(9): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 152 | 0.0066 | 16 | c.88+ others(31): 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(9): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 152 | 0.0066 | 16 | c.88+ others(31): 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(9): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 152 | 0.0066 | 16 | c.89- others(31): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 86940132 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02717.hp1 HG02896.hp1 others(1): Show |
a0003a0005 | a0003c0004a0005c0007 | a0003c0004t0001a0005c0007t0002 | a0003c0004t0001g0068a0003c0004t0001g0145a0003c0004t0001g0149others(1): Show | 4 | 152 | 0.0263 | 16 | c.431 others(31): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 86989304 | A | AATACATA others(9): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0149 | 1 | 152 | 0.0066 | 16 | c.431 others(35): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 87099065 | A | AAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 152 | 0.0066 | 16 | c.432 others(37): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 87129069 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01192.hp1 HG01192.hp2 others(12): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0001 | a0001c0001t0001g0001a0001c0001t0001g0014a0001c0001t0001g0025others(12): Show | 15 | 152 | 0.0987 | 16 | c.432 others(35): 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(9): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02717.hp1 HG02895.hp1 others(1): Show |
a0001a0003a0008 | a0001c0001a0003c0004a0008c0011 | a0001c0001t0001a0003c0004t0001a0008c0011t0001 | a0001c0001t0001g0033a0003c0004t0001g0145a0003c0004t0001g0149others(1): Show | 4 | 152 | 0.0263 | 16 | c.771 others(33): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD2_chr20_35963590_36035700 | 36007189 | A | AAAATAAA others(9): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02818.hp1 HG02896.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0117a0001c0001t0001g0231a0001c0001t0002g0012others(3): Show | 6 | 268 | 0.0224 | 16 | c.971 others(33): Show |
CNBD2 | ENSG00000149646.12 | transcript | ENST00000373973.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CNBD2_chr20_35963590_36035700 | 36014182 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02280.hp1 HG02615.hp1 others(1): Show |
a0001a0014 | a0001c0001a0014c0011 | a0001c0001t0002a0014c0011t0002 | a0001c0001t0002g0113a0001c0001t0002g0114a0001c0001t0002g0120others(1): Show | 4 | 268 | 0.0149 | 16 | c.126 others(35): Show |
CNBD2 | ENSG00000149646.12 | transcript | ENST00000373973.7 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CNBP_chr3_129162827_129188896 | 129172608 | A | ACAGGCAG others(9): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0372 | 1 | 430 | 0.0023 | 16 | c.-14 others(31): Show |
CNBP | ENSG00000169714.17 | transcript | ENST00000422453.7 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
CNBP_chr3_129162827_129188896 | 129172660 | A | ACAGGCAG others(9): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0361 | 1 | 430 | 0.0023 | 16 | c.-14 others(31): Show |
CNBP | ENSG00000169714.17 | transcript | ENST00000422453.7 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
CNBP_chr3_129162827_129188896 | 129172695 | G | GACACACA others(9): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0263 | 1 | 430 | 0.0023 | 16 | c.-14 others(31): Show |
CNBP | ENSG00000169714.17 | transcript | ENST00000422453.7 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
CNBP_chr3_129162827_129188896 | 129172695 | G | GACAGACA others(9): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 430 | 0.0023 | 16 | c.-14 others(31): Show |
CNBP | ENSG00000169714.17 | transcript | ENST00000422453.7 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
CNBP_chr3_129162827_129188896 | 129181239 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG02622.hp2 HG03942.hp1 |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0016 | a0001c0002t0005g0365a0001c0002t0016g0233 | 2 | 430 | 0.0047 | 16 | c.-15 others(33): Show |
CNBP | ENSG00000169714.17 | transcript | ENST00000422453.7 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
CNBP_chr3_129162827_129188896 | 129181649 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00609.hp1 HG00609.hp2 others(97): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0018others(78): Show | 100 | 430 | 0.2326 | 16 | c.-15 others(33): Show |
CNBP | ENSG00000169714.17 | transcript | ENST00000422453.7 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
CNBP_chr3_129162827_129188896 | 129181655 | A | AAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0219 | 1 | 430 | 0.0023 | 16 | c.-15 others(33): Show |
CNBP | ENSG00000169714.17 | transcript | ENST00000422453.7 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
CNDP1_chr18_74529500_74592212 | 74535580 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG02572.hp1 NA19074.hp1 |
a0001a0016 | a0001c0001a0016c0044 | a0001c0001t0005a0016c0044t0011 | a0001c0001t0005g0357a0016c0044t0011g0356 | 2 | 390 | 0.0051 | 16 | c.24+ others(29): Show |
CNDP1 | ENSG00000150656.15 | transcript | ENST00000358821.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CNDP1_chr18_74529500_74592212 | 74573420 | C | CCATCCAT others(9): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0004 | a0004c0010 | a0004c0010t0002 | a0004c0010t0002g0014 | 1 | 390 | 0.0026 | 16 | c.841 others(33): Show |
CNDP1 | ENSG00000150656.15 | transcript | ENST00000358821.8 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CNDP1_chr18_74529500_74592212 | 74573444 | G | GTATCTAT others(9): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0205 | 1 | 390 | 0.0026 | 16 | c.841 others(33): Show |
CNDP1 | ENSG00000150656.15 | transcript | ENST00000358821.8 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CNGA1_chr4_47930977_48021681 | 47935083 | A | AGAAATAC others(9): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(331): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011others(312): Show | 334 | 366 | 0.9126 | 16 | c.*13 others(27): Show |
CNGA1 | ENSG00000198515.16 | transcript | ENST00000514170.7 | protein_coding | 893 | chr4 | TogoVar | ||||||
CNGA1_chr4_47930977_48021681 | 48012558 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG02886.hp1 HG02970.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0003 | a0001c0001t0003g0076a0001c0003t0003g0075 | 2 | 366 | 0.0055 | 16 | c.-22 others(35): Show |
CNGA1 | ENSG00000198515.16 | transcript | ENST00000514170.7 | protein_coding | 1/10 | chr4 | TogoVar | ||||||
CNGA2_chrX_151729746_151750564 | 151743027 | T | TATGTATA others(9): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02109.hp1 HG02257.hp1 others(1): Show |
a0004a0014 | a0004c0005a0014c0016 | a0004c0005t0005a0014c0016t0005 | a0004c0005t0005g0014a0014c0016t0005g0095 | 4 | 336 | 0.0119 | 16 | c.590 others(29): Show |
CNGA2 | ENSG00000183862.6 | transcript | ENST00000329903.5 | protein_coding | 6/6 | chrX | TogoVar | ||||||
CNGA4_chr11_6234089_6249479 | 6247043 | C | CAAAAAAA others(9): Show |
downstream_gene_variant | MODIFIER | HG01099.hp1 HG01106.hp2 HG01346.hp2 others(3): Show |
a0001a0012 | a0001c0002a0001c0012a0012c0014 | a0001c0002t0001a0001c0012t0001a0012c0014t0001 | a0001c0002t0001g0002a0001c0002t0001g0009a0001c0012t0001g0017others(1): Show | 6 | 412 | 0.0146 | 16 | c.*26 others(27): Show |
CNGA4 | ENSG00000132259.13 | transcript | ENST00000379936.3 | protein_coding | 2565 | chr11 | TogoVar | ||||||
CNGB1_chr16_57877340_57976128 | 57879741 | T | TTTTCTTT others(9): Show |
downstream_gene_variant | MODIFIER | HG02809.hp2 HG03209.hp1 |
a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0001a0002c0005t0001 | a0001c0002t0001g0056a0002c0005t0001g0314 | 2 | 360 | 0.0056 | 16 | c.*44 others(27): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 2598 | chr16 | TogoVar | ||||||
CNGB1_chr16_57877340_57976128 | 57879796 | T | TTTCCTTC others(9): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 NA18954.hp2 NA19056.hp2 |
a0001a0052 | a0001c0001a0001c0002a0052c0106 | a0001c0001t0005a0001c0002t0005a0052c0106t0002 | a0001c0001t0005g0274a0001c0002t0005g0143a0052c0106t0002g0075 | 3 | 360 | 0.0083 | 16 | c.*43 others(27): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 2543 | chr16 | TogoVar | ||||||
CNGB1_chr16_57877340_57976128 | 57879801 | T | TTTCTTTC others(9): Show |
downstream_gene_variant | MODIFIER | HG01175.hp1 | a0045 | a0045c0079 | a0045c0079t0006 | a0045c0079t0006g0194 | 1 | 360 | 0.0028 | 16 | c.*43 others(27): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 2538 | chr16 | TogoVar | ||||||
CNGB1_chr16_57877340_57976128 | 57885557 | C | CCTCTCTC others(9): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01433.hp1 HG02300.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0013a0001c0002t0003a0001c0002t0005others(3): Show | a0001c0001t0013g0206a0001c0002t0003g0050a0001c0002t0005g0142others(4): Show | 7 | 360 | 0.0194 | 16 | c.346 others(35): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 32/32 | chr16 | TogoVar | ||||||
CNGB1_chr16_57877340_57976128 | 57973399 | A | ATGTGCAT others(9): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00597.hp1 others(22): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(15): Show | a0001c0001t0001g0195a0001c0001t0001g0227a0001c0001t0001g0234others(22): Show | 25 | 360 | 0.0694 | 16 | c.-23 others(27): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 2272 | chr16 | TogoVar | ||||||
CNGB1_chr16_57877340_57976128 | 57973399 | A | ATGTGCGT others(9): Show |
upstream_gene_variant | MODIFIER | HG02630.hp1 HG02717.hp1 HG03098.hp2 others(3): Show |
a0002a0006a0009others(2): Show | a0002c0005a0002c0113a0006c0085others(3): Show | a0002c0005t0009a0002c0113t0003a0006c0085t0024others(3): Show | a0002c0005t0009g0104a0002c0113t0003g0318a0006c0085t0024g0209others(3): Show | 6 | 360 | 0.0167 | 16 | c.-23 others(27): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 2272 | chr16 | TogoVar | ||||||
CNGB1_chr16_57877340_57976128 | 57973399 | A | ATGTGTGT others(9): Show |
upstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0016 | a0001c0016t0010 | a0001c0016t0010g0057 | 1 | 360 | 0.0028 | 16 | c.-23 others(27): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 2272 | chr16 | TogoVar | ||||||
CNGB3_chr8_86569179_86748634 | 86594695 | T | TTTTGTTT others(9): Show |
intron_variant | MODIFIER | HG02647.hp2 HG03453.hp1 HG03516.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0006 | a0001c0001t0001g0240a0002c0002t0006g0177a0002c0002t0006g0179others(3): Show | 6 | 288 | 0.0208 | 16 | c.178 others(35): Show |
CNGB3 | ENSG00000170289.13 | transcript | ENST00000320005.6 | protein_coding | 15/17 | chr8 | TogoVar |