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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CMYA5_chr5_79684836_79805222 | 79741748 | TTATCTC | T | intron_variant | MODIFIER | HG00438.hp1 HG00741.hp2 HG01074.hp2 others(45): Show |
a0002a0014a0021others(3): Show | a0002c0002a0002c0020a0002c0106others(7): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0006others(13): Show | a0002c0002t0001g0008 a0002c0002t0001g0043 a0002c0002t0001g0127 others(45): Show |
48 | 358 | 0.1341 | -6 | c.106 others(27): Show |
CMYA5 | ENSG00000164309.15 | transcript | ENST00000446378.3 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CMYA5_chr5_79684836_79805222 | 79742048 | CTCTTCT | C | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp2 HG00597.hp1 others(48): Show |
a0001a0008a0010others(13): Show | a0001c0001a0001c0013a0001c0033others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0013t0001others(26): Show | a0001c0001t0001g0012 a0001c0001t0001g0064 a0001c0001t0001g0065 others(48): Show |
51 | 358 | 0.1425 | -6 | c.106 others(27): Show |
CMYA5 | ENSG00000164309.15 | transcript | ENST00000446378.3 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 86874986 | TTATATA | T | intron_variant | MODIFIER | HG00558.hp2 HG01070.hp1 HG01167.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(1): Show | a0001c0001t0001g0033 a0001c0001t0001g0112 a0001c0001t0001g0113 others(12): Show |
15 | 152 | 0.0987 | -6 | c.88+ others(21): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 86876183 | TTGTGTG | T | intron_variant | MODIFIER | HG01261.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 a0001c0001t0001g0088 |
2 | 152 | 0.0132 | -6 | c.88+ others(21): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 86894035 | ATTTTTT | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00741.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 others(9): Show |
12 | 152 | 0.0790 | -6 | c.158 others(23): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 86925482 | AGTGTGT | A | intron_variant | MODIFIER | HG01099.hp1 HG01515.hp2 HG02015.hp2 others(8): Show |
a0001a0006 | a0001c0001a0006c0009 | a0001c0001t0001a0006c0009t0001 | a0001c0001t0001g0031 a0001c0001t0001g0047 a0001c0001t0001g0051 others(8): Show |
11 | 152 | 0.0724 | -6 | c.273 others(25): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 86976187 | CTTTTTT | C | intron_variant | MODIFIER | HG00639.hp2 HG02257.hp1 HG02622.hp2 others(3): Show |
a0001a0003a0005 | a0001c0001a0003c0004a0005c0007 | a0001c0001t0001a0003c0004t0001a0005c0007t0002 | a0001c0001t0001g0063 a0001c0001t0001g0079 a0001c0001t0001g0103 others(3): Show |
6 | 152 | 0.0395 | -6 | c.431 others(25): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 87056695 | ATAAAAT | A | intron_variant | MODIFIER | HG00609.hp2 NA19062.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 a0001c0001t0001g0067 |
2 | 152 | 0.0132 | -6 | c.431 others(27): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 87136652 | ATTATAT | A | intron_variant | MODIFIER | HG01257.hp1 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0095 |
2 | 152 | 0.0132 | -6 | c.432 others(25): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 87240065 | AACACAC | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(45): Show |
a0001a0003a0004 | a0001c0001a0003c0004a0004c0003 | a0001c0001t0001a0001c0001t0003a0003c0004t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0015 others(45): Show |
48 | 152 | 0.3158 | -6 | c.771 others(23): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 87281541 | GATATAT | G | intron_variant | MODIFIER | HG01175.hp1 HG01256.hp2 HG01515.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 a0001c0001t0001g0051 a0001c0001t0001g0071 others(1): Show |
4 | 152 | 0.0263 | -6 | c.772 others(23): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 87321785 | TTTTTTC | T | intron_variant | MODIFIER | HG00558.hp1 HG00609.hp2 HG00639.hp2 others(43): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 others(43): Show |
46 | 152 | 0.3026 | -6 | c.104 others(27): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNBP_chr3_129162827_129188896 | 129164210 | CAAAAAA | C | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00558.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0039 others(21): Show |
24 | 430 | 0.0558 | -6 | c.*62 others(17): Show |
CNBP | ENSG00000169714.17 | transcript | ENST00000422453.7 | protein_coding | 3616 | chr3 | TogoVar | |||||||
CNBP_chr3_129162827_129188896 | 129172681 | CAGACAG | C | intron_variant | MODIFIER | HG02622.hp2 NA18940.hp2 NA19030.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0016 | a0001c0001t0001g0042 a0001c0002t0016g0232 a0001c0002t0016g0233 |
3 | 430 | 0.0070 | -6 | c.-14 others(21): Show |
CNBP | ENSG00000169714.17 | transcript | ENST00000422453.7 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
CNBP_chr3_129162827_129188896 | 129172685 | CAGACAG | C | intron_variant | MODIFIER | HG01099.hp1 HG01099.hp2 HG01109.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0009 | a0001c0001t0001g0010 a0001c0001t0001g0185 a0001c0001t0001g0242 others(4): Show |
8 | 430 | 0.0186 | -6 | c.-14 others(21): Show |
CNBP | ENSG00000169714.17 | transcript | ENST00000422453.7 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
CNBP_chr3_129162827_129188896 | 129172695 | GACACAC | G | intron_variant | MODIFIER | HG00423.hp2 HG00673.hp2 HG01361.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0028 a0001c0001t0001g0327 a0001c0001t0003g0240 |
4 | 430 | 0.0093 | -6 | c.-14 others(21): Show |
CNBP | ENSG00000169714.17 | transcript | ENST00000422453.7 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
CNBP_chr3_129162827_129188896 | 129181239 | CAAAAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00609.hp1 HG00639.hp2 others(56): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0166 others(49): Show |
59 | 430 | 0.1372 | -6 | c.-15 others(23): Show |
CNBP | ENSG00000169714.17 | transcript | ENST00000422453.7 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
CNDP1_chr18_74529500_74592212 | 74551361 | AACACAC | A | intron_variant | MODIFIER | HG00741.hp1 HG02148.hp1 HG03017.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0001t0003a0001c0002t0003others(3): Show | a0001c0001t0002g0215 a0001c0001t0003g0074 a0001c0002t0003g0163 others(3): Show |
6 | 390 | 0.0154 | -6 | c.25- others(21): Show |
CNDP1 | ENSG00000150656.15 | transcript | ENST00000358821.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CNDP1_chr18_74529500_74592212 | 74581218 | CTGTGTG | C | intron_variant | MODIFIER | HG00408.hp1 HG01243.hp2 HG01433.hp2 others(14): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0042others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(11): Show | a0001c0001t0001g0134 a0001c0001t0001g0143 a0001c0001t0002g0122 others(14): Show |
17 | 390 | 0.0436 | -6 | c.130 others(23): Show |
CNDP1 | ENSG00000150656.15 | transcript | ENST00000358821.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CNGA1_chr4_47930977_48021681 | 47955173 | CTTTTTT | C | intron_variant | MODIFIER | HG00609.hp2 HG00621.hp1 HG00673.hp1 others(52): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 others(47): Show |
55 | 366 | 0.1503 | -6 | c.-14 others(23): Show |
CNGA1 | ENSG00000198515.16 | transcript | ENST00000514170.7 | protein_coding | 3/10 | chr4 | TogoVar | |||||||
CNGA1_chr4_47930977_48021681 | 47971168 | TTGTGTG | T | intron_variant | MODIFIER | HG01255.hp1 HG02109.hp1 HG02257.hp2 others(15): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 others(15): Show |
18 | 366 | 0.0492 | -6 | c.-15 others(25): Show |
CNGA1 | ENSG00000198515.16 | transcript | ENST00000514170.7 | protein_coding | 3/10 | chr4 | TogoVar | |||||||
CNGA1_chr4_47930977_48021681 | 47983615 | TAAAAGA | T | intron_variant | MODIFIER | HG00423.hp1 HG00609.hp2 HG00621.hp1 others(67): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 others(62): Show |
70 | 366 | 0.1913 | -6 | c.-12 others(25): Show |
CNGA1 | ENSG00000198515.16 | transcript | ENST00000514170.7 | protein_coding | 2/10 | chr4 | TogoVar | |||||||
CNGA1_chr4_47930977_48021681 | 48011412 | TACACAC | T | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG03041.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 others(1): Show |
4 | 366 | 0.0109 | -6 | c.-22 others(23): Show |
CNGA1 | ENSG00000198515.16 | transcript | ENST00000514170.7 | protein_coding | 1/10 | chr4 | TogoVar | |||||||
CNGA1_chr4_47930977_48021681 | 48012558 | CTTTTTT | C | intron_variant | MODIFIER | HG01192.hp1 HG01943.hp2 HG01993.hp1 others(9): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0006 | a0001c0001t0001a0001c0001t0009a0001c0003t0001others(1): Show | a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 others(9): Show |
12 | 366 | 0.0328 | -6 | c.-22 others(25): Show |
CNGA1 | ENSG00000198515.16 | transcript | ENST00000514170.7 | protein_coding | 1/10 | chr4 | TogoVar | |||||||
CNGA1_chr4_47930977_48021681 | 48017863 | CATATAT | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(137): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(8): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0012 others(127): Show |
140 | 366 | 0.3825 | -6 | c.-16 others(17): Show |
CNGA1 | ENSG00000198515.16 | transcript | ENST00000514170.7 | protein_coding | 1183 | chr4 | TogoVar | |||||||
CNGA2_chrX_151729746_151750564 | 151744523 | AGCATTG | A | 3_prime_UTR_variant | MODIFIER | HG00408.hp2 HG00639.hp2 HG00642.hp1 others(43): Show |
a0001a0004a0014 | a0001c0001a0001c0004a0001c0006others(3): Show | a0001c0001t0003a0001c0001t0006a0001c0004t0003others(4): Show | a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0054 others(24): Show |
46 | 336 | 0.1369 | -6 | c.*28 others(13): Show |
CNGA2 | ENSG00000183862.6 | transcript | ENST00000329903.5 | protein_coding | 7/7 | 28 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CNGA2_chrX_151729746_151750564 | 151749311 | CGTGTGT | C | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00558.hp2 others(99): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0006a0001c0010others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0017 others(44): Show |
102 | 336 | 0.3036 | -6 | c.*48 others(17): Show |
CNGA2 | ENSG00000183862.6 | transcript | ENST00000329903.5 | protein_coding | 3748 | chrX | TogoVar | |||||||
CNGA3_chr2_98341456_98403601 | 98400238 | TACACAC | T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00558.hp1 others(22): Show |
a0001a0002a0010 | a0001c0001a0001c0002a0001c0018others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(4): Show | a0001c0001t0001g0012 a0001c0001t0001g0051 a0001c0001t0001g0058 others(21): Show |
25 | 338 | 0.0740 | -6 | c.*29 others(17): Show |
CNGA3 | ENSG00000144191.12 | transcript | ENST00000272602.7 | protein_coding | 1638 | chr2 | TogoVar | |||||||
CNGA4_chr11_6234089_6249479 | 6244585 | TACACAC | T | downstream_gene_variant | MODIFIER | HG01074.hp2 HG01106.hp2 HG01515.hp1 others(13): Show |
a0001a0008a0010others(1): Show | a0001c0002a0008c0020a0010c0011others(1): Show | a0001c0002t0001a0008c0020t0001a0010c0011t0001others(1): Show | a0001c0002t0001g0002 a0001c0002t0001g0009 a0008c0020t0001g0001 others(2): Show |
16 | 412 | 0.0388 | -6 | c.*17 others(15): Show |
CNGA4 | ENSG00000132259.13 | transcript | ENST00000379936.3 | protein_coding | 107 | chr11 | TogoVar | |||||||
CNGB1_chr16_57877340_57976128 | 57879743 | TTCTTTC | T | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02818.hp1 HG03130.hp1 others(5): Show |
a0001a0002a0004 | a0001c0007a0001c0016a0001c0028others(4): Show | a0001c0007t0004a0001c0016t0046a0001c0028t0042others(5): Show | a0001c0007t0004g0046 a0001c0016t0046g0054 a0001c0028t0042g0069 others(5): Show |
8 | 360 | 0.0222 | -6 | c.*44 others(17): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 2596 | chr16 | TogoVar | |||||||
CNGB1_chr16_57877340_57976128 | 57885578 | CTTTCTT | C | intron_variant | MODIFIER | HG02257.hp1 NA18980.hp1 NA19087.hp2 others(1): Show |
a0002a0003a0007others(1): Show | a0002c0011a0003c0008a0007c0021others(1): Show | a0002c0011t0016a0003c0008t0009a0007c0021t0014others(1): Show | a0002c0011t0016g0190 a0003c0008t0009g0146 a0007c0021t0014g0088 others(1): Show |
4 | 360 | 0.0111 | -6 | c.346 others(25): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 32/32 | chr16 | TogoVar | |||||||
CNGB3_chr8_86569179_86748634 | 86600776 | ATTTTTT | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp2 others(100): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0016a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(11): Show | a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0025 others(100): Show |
103 | 288 | 0.3576 | -6 | c.178 others(25): Show |
CNGB3 | ENSG00000170289.13 | transcript | ENST00000320005.6 | protein_coding | 15/17 | chr8 | TogoVar | |||||||
CNGB3_chr8_86569179_86748634 | 86635859 | TATATAC | T | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00544.hp2 others(41): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0004others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0001g0038 a0001c0001t0001g0118 a0001c0001t0001g0133 others(41): Show |
44 | 288 | 0.1528 | -6 | c.117 others(25): Show |
CNGB3 | ENSG00000170289.13 | transcript | ENST00000320005.6 | protein_coding | 10/17 | chr8 | TogoVar | |||||||
CNGB3_chr8_86569179_86748634 | 86635861 | TATACAC | T | intron_variant | MODIFIER | HG00558.hp1 HG01109.hp2 HG01192.hp1 others(6): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0011others(2): Show | a0001c0001t0001a0002c0002t0001a0003c0011t0002others(2): Show | a0001c0001t0001g0152 a0001c0001t0001g0160 a0002c0002t0001g0134 others(6): Show |
9 | 288 | 0.0313 | -6 | c.117 others(25): Show |
CNGB3 | ENSG00000170289.13 | transcript | ENST00000320005.6 | protein_coding | 10/17 | chr8 | TogoVar | |||||||
CNGB3_chr8_86569179_86748634 | 86720813 | CATATAT | C | intron_variant | MODIFIER | HG01070.hp2 HG01081.hp1 HG01884.hp1 others(21): Show |
a0001a0002a0006others(2): Show | a0001c0001a0002c0002a0006c0006others(2): Show | a0001c0001t0001a0001c0001t0005a0002c0002t0001others(4): Show | a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 others(21): Show |
24 | 288 | 0.0833 | -6 | c.338 others(23): Show |
CNGB3 | ENSG00000170289.13 | transcript | ENST00000320005.6 | protein_coding | 3/17 | chr8 | TogoVar | |||||||
CNGB3_chr8_86569179_86748634 | 86735042 | GTTTTTT | G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp1 others(69): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0042 others(69): Show |
72 | 288 | 0.2500 | -6 | c.211 others(23): Show |
CNGB3 | ENSG00000170289.13 | transcript | ENST00000320005.6 | protein_coding | 2/17 | chr8 | TogoVar | |||||||
CNIH3_chr1_224611317_224745554 | 224674272 | GTTTTTT | G | intron_variant | MODIFIER | HG02622.hp1 HG03130.hp1 HG03453.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(3): Show | a0001c0001t0001g0329 a0001c0001t0006g0027 a0001c0001t0007g0025 others(4): Show |
7 | 358 | 0.0196 | -6 | c.82- others(21): Show |
CNIH3 | ENSG00000143786.8 | transcript | ENST00000272133.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNIH3_chr1_224611317_224745554 | 224695357 | AACACAC | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(146): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 others(140): Show |
149 | 358 | 0.4162 | -6 | c.198 others(25): Show |
CNIH3 | ENSG00000143786.8 | transcript | ENST00000272133.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNKSR1_chr1_26172491_26194884 | 26172968 | AAAAAAG | A | upstream_gene_variant | MODIFIER | HG02572.hp2 HG03098.hp2 HG03195.hp2 |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0002a0001c0001t0006a0004c0005t0002 | a0001c0001t0002g0104 a0001c0001t0006g0105 a0004c0005t0002g0102 |
3 | 372 | 0.0081 | -6 | c.-45 others(17): Show |
CNKSR1 | ENSG00000142675.18 | transcript | ENST00000361530.11 | protein_coding | 4522 | chr1 | TogoVar | |||||||
CNKSR2_chrX_21369418_21659689 | 21409228 | TTATATA | T | intron_variant | MODIFIER | HG01167.hp1 HG02027.hp1 HG02809.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(4): Show | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(6): Show |
9 | 163 | 0.0552 | -6 | c.65- others(23): Show |
CNKSR2 | ENSG00000149970.16 | transcript | ENST00000379510.5 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CNKSR2_chrX_21369418_21659689 | 21415833 | TACACAC | T | intron_variant | MODIFIER | HG00140.hp1 HG00735.hp1 HG00741.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0076 a0001c0001t0002g0111 a0001c0001t0002g0112 others(5): Show |
8 | 163 | 0.0491 | -6 | c.65- others(23): Show |
CNKSR2 | ENSG00000149970.16 | transcript | ENST00000379510.5 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CNKSR2_chrX_21369418_21659689 | 21433653 | TACACAC | T | intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019 | 1 | 163 | 0.0061 | -6 | c.431 others(21): Show |
CNKSR2 | ENSG00000149970.16 | transcript | ENST00000379510.5 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CNKSR2_chrX_21369418_21659689 | 21473745 | GTTTTTT | G | intron_variant | MODIFIER | HG02055.hp1 HG02486.hp1 |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0027 | a0001c0001t0022g0033 a0001c0001t0027g0034 |
2 | 163 | 0.0123 | -6 | c.561 others(23): Show |
CNKSR2 | ENSG00000149970.16 | transcript | ENST00000379510.5 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CNKSR2_chrX_21369418_21659689 | 21495783 | CAAAAAA | C | intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0007 | 1 | 163 | 0.0061 | -6 | c.682 others(23): Show |
CNKSR2 | ENSG00000149970.16 | transcript | ENST00000379510.5 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CNKSR2_chrX_21369418_21659689 | 21526786 | ATTGTTG | A | intron_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 163 | 0.0061 | -6 | c.958 others(19): Show |
CNKSR2 | ENSG00000149970.16 | transcript | ENST00000379510.5 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CNKSR2_chrX_21369418_21659689 | 21567795 | GGTGTGT | G | intron_variant | MODIFIER | HG00642.hp1 HG01255.hp1 HG01256.hp1 others(32): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0039 a0001c0001t0001g0052 others(32): Show |
35 | 163 | 0.2147 | -6 | c.160 others(25): Show |
CNKSR2 | ENSG00000149970.16 | transcript | ENST00000379510.5 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CNKSR2_chrX_21369418_21659689 | 21599339 | GGTGTGT | G | intron_variant | MODIFIER | HG00609.hp1 HG02486.hp1 HG02698.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0027 | a0001c0001t0001g0036 a0001c0001t0001g0058 a0001c0001t0004g0129 others(1): Show |
4 | 163 | 0.0245 | -6 | c.197 others(25): Show |
CNKSR2 | ENSG00000149970.16 | transcript | ENST00000379510.5 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CNKSR2_chrX_21369418_21659689 | 21630122 | TAAAGTC | T | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0045 | 1 | 163 | 0.0061 | -6 | c.269 others(27): Show |
CNKSR2 | ENSG00000149970.16 | transcript | ENST00000379510.5 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CNKSR2_chrX_21369418_21659689 | 21632990 | TACACAC | T | intron_variant | MODIFIER | HG00621.hp1 HG02074.hp1 HG02083.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0039 | a0001c0001t0002g0003 a0001c0001t0002g0046 a0001c0001t0002g0047 others(14): Show |
17 | 163 | 0.1043 | -6 | c.269 others(27): Show |
CNKSR2 | ENSG00000149970.16 | transcript | ENST00000379510.5 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CNKSR2_chrX_21369418_21659689 | 21654272 | TAAAAAA | T | 3_prime_UTR_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0086 | 1 | 163 | 0.0061 | -6 | c.*17 others(17): Show |
CNKSR2 | ENSG00000149970.16 | transcript | ENST00000379510.5 | protein_coding | 22/22 | 1768 | INFO_REALIGN_3_PRIME | chrX | TogoVar |