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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CLSTN3_chr12_7125371_7163945 | 7126510 | G | GGTGGTGT | upstream_gene_variant | MODIFIER | HG01123.hp1 HG02723.hp2 HG02738.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0020 a0001c0001t0001g0047 a0001c0001t0001g0106 others(2): Show |
5 | 357 | 0.0140 | 7 | c.-41 others(18): Show |
CLSTN3 | ENSG00000139182.15 | transcript | ENST00000266546.11 | protein_coding | 3860 | chr12 | TogoVar | |||||||
CLTCL1_chr22_19174473_19296719 | 19190596 | C | CAAAAAAA | intron_variant | MODIFIER | HG02080.hp1 HG02083.hp1 NA18947.hp2 others(8): Show |
a0005 | a0005c0007 | a0005c0007t0004 | a0005c0007t0004g0315 a0005c0007t0004g0316 a0005c0007t0004g0317 others(8): Show |
11 | 46 | 0.2391 | 7 | c.432 others(24): Show |
CLTCL1 | ENSG00000070371.16 | transcript | ENST00000427926.6 | protein_coding | 27/32 | chr22 | TogoVar | |||||||
CLUAP1_chr16_3496004_3544048 | 3529684 | T | TTATATAA | intron_variant | MODIFIER | HG00738.hp2 HG01167.hp2 HG01496.hp2 others(31): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0060 a0001c0001t0001g0061 others(27): Show |
34 | 345 | 0.0986 | 7 | c.929 others(22): Show |
CLUAP1 | ENSG00000103351.13 | transcript | ENST00000576634.6 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CLUAP1_chr16_3496004_3544048 | 3529684 | T | TTATTATA | intron_variant | MODIFIER | HG01891.hp2 HG02723.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 a0001c0001t0001g0231 a0001c0001t0001g0233 |
3 | 314 | 0.0096 | 7 | c.929 others(22): Show |
CLUAP1 | ENSG00000103351.13 | transcript | ENST00000576634.6 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CLUH_chr17_2684387_2716764 | 2693141 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00735.hp1 others(46): Show |
a0001a0004a0005others(2): Show | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0001others(10): Show | a0001c0001t0001g0012 a0001c0001t0001g0138 a0001c0001t0001g0148 others(33): Show |
49 | 52 | 0.9423 | 7 | c.323 others(24): Show |
CLUH | ENSG00000132361.18 | transcript | ENST00000651024.2 | protein_coding | 19/25 | chr17 | TogoVar | |||||||
CLUL1_chr18_591988_655182 | 626996 | A | AGAGAAAG | intron_variant | MODIFIER | HG02723.hp1 HG03130.hp2 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0074 a0001c0001t0002g0339 a0001c0001t0005g0261 |
3 | 364 | 0.0082 | 7 | c.424 others(22): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 5/9 | chr18 | TogoVar | |||||||
CLVS1_chr8_61282970_61506629 | 61468735 | A | AAAAAAAG | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG01255.hp1 others(30): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 others(30): Show |
33 | 152 | 0.2171 | 7 | c.977 others(26): Show |
CLVS1 | ENSG00000177182.11 | transcript | ENST00000325897.5 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99637962 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(70): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(4): Show | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 others(70): Show |
73 | 118 | 0.6186 | 7 | c.62+ others(24): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99684035 | A | ATTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(68): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(68): Show |
71 | 139 | 0.5108 | 7 | c.62+ others(24): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99833031 | T | TATATATA | intron_variant | MODIFIER | HG01169.hp1 HG01517.hp2 HG02602.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 a0001c0001t0001g0133 a0001c0001t0001g0158 others(3): Show |
6 | 174 | 0.0345 | 7 | c.250 others(26): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 2/8 | chr13 | TogoVar | |||||||
CLYBL_chr13_99601690_99897570 | 99880068 | A | ATATATAT | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG00738.hp2 others(32): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(1): Show | a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0027 others(32): Show |
35 | 137 | 0.2555 | 7 | c.927 others(24): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99880068 | A | ATATATTT | intron_variant | MODIFIER | HG00735.hp1 HG02071.hp1 HG02109.hp2 others(6): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0001a0002c0002t0001a0004c0004t0001others(1): Show | a0001c0001t0001g0018 a0001c0001t0001g0065 a0001c0001t0001g0091 others(6): Show |
9 | 111 | 0.0811 | 7 | c.927 others(24): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99880069 | T | TATATATA | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00639.hp2 others(21): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(3): Show | a0001c0001t0001g0019 a0001c0001t0001g0045 a0001c0001t0001g0049 others(21): Show |
24 | 202 | 0.1188 | 7 | c.927 others(24): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 7/8 | chr13 | TogoVar | |||||||
CLYBL_chr13_99601690_99897570 | 99888276 | G | GTTTTATA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(111): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(7): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 others(111): Show |
114 | 216 | 0.5278 | 7 | c.928 others(24): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CMC1_chr3_28236619_28330142 | 28274214 | T | TTTTTTTG | intron_variant | MODIFIER | HG01496.hp2 HG01934.hp1 HG02145.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0019others(2): Show | a0001c0001t0001g0005 a0001c0001t0010g0255 a0001c0001t0010g0256 others(3): Show |
7 | 336 | 0.0208 | 7 | c.109 others(26): Show |
CMC1 | ENSG00000187118.14 | transcript | ENST00000466830.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMC2_chr16_80961448_81011885 | 80965248 | T | TATATATA | downstream_gene_variant | MODIFIER | HG02056.hp2 HG02074.hp2 HG03942.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0005a0002c0002t0012others(3): Show | a0002c0002t0003g0028 a0002c0002t0003g0030 a0002c0002t0005g0151 others(4): Show |
8 | 395 | 0.0203 | 7 | c.*10 others(20): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 1199 | chr16 | TogoVar | |||||||
CMC2_chr16_80961448_81011885 | 80971562 | T | TATATATA | 3_prime_UTR_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01433.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0018a0001c0001t0106others(2): Show | a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0049 others(9): Show |
14 | 294 | 0.0476 | 7 | c.*45 others(18): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 4/4 | 4530 | chr16 | TogoVar | ||||||
CMC2_chr16_80961448_81011885 | 80974506 | A | AGTGGAGG | 3_prime_UTR_variant | MODIFIER | HG00639.hp2 HG02145.hp2 HG02486.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0021a0002c0002t0084a0002c0002t0085others(1): Show | a0002c0002t0021g0054 a0002c0002t0021g0295 a0002c0002t0084g0290 others(2): Show |
6 | 406 | 0.0148 | 7 | c.*15 others(18): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 4/4 | 1586 | chr16 | TogoVar | ||||||
CMC2_chr16_80961448_81011885 | 80978072 | C | CAAAAAAA | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG02055.hp1 others(14): Show |
a0002 | a0002c0002 | a0002c0002t0009a0002c0002t0025a0002c0002t0027others(5): Show | a0002c0002t0009g0011 a0002c0002t0009g0066 a0002c0002t0009g0067 others(12): Show |
17 | 228 | 0.0746 | 7 | c.154 others(24): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 3/3 | chr16 | TogoVar | |||||||
CMIP_chr16_81439808_81716762 | 81568039 | G | GTGTGTGT | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01256.hp2 others(6): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(1): Show | a0001c0001t0001g0029 a0001c0001t0001g0055 a0001c0001t0001g0129 others(6): Show |
9 | 128 | 0.0703 | 7 | c.301 others(26): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CMIP_chr16_81439808_81716762 | 81598968 | C | CAAAAAAA | intron_variant | MODIFIER | HG00621.hp2 HG01243.hp2 HG02970.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0056 a0001c0001t0001g0121 a0001c0001t0001g0193 others(4): Show |
7 | 156 | 0.0449 | 7 | c.301 others(24): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CMPK1_chr1_47328790_47383839 | 47365633 | C | CAAAAAAA | intron_variant | MODIFIER | HG01167.hp1 HG01891.hp1 HG02486.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007a0001c0001t0012 | a0001c0001t0006g0012 a0001c0001t0006g0097 a0001c0001t0006g0128 others(6): Show |
10 | 13 | 0.7692 | 7 | c.172 others(24): Show |
CMPK1 | ENSG00000162368.15 | transcript | ENST00000371873.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CMSS1_chr3_99812862_100186732 | 99957693 | C | CTTTTTTT | intron_variant | MODIFIER | HG00738.hp2 HG01346.hp2 HG01981.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0149 others(2): Show |
5 | 36 | 0.1389 | 7 | c.64+ others(26): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMSS1_chr3_99812862_100186732 | 100074675 | A | ATTTTTTT | intron_variant | MODIFIER | HG02602.hp2 HG03195.hp2 HG03540.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(1): Show | a0001c0001t0001g0037 a0001c0001t0001g0158 a0001c0001t0001g0168 others(4): Show |
7 | 23 | 0.3043 | 7 | c.65- others(24): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMTM4_chr16_66609750_66701743 | 66700907 | T | TAAAAAAA | upstream_gene_variant | MODIFIER | HG01109.hp2 HG02145.hp2 HG02630.hp2 others(4): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0002 | a0001c0002t0002g0029 a0001c0002t0002g0037 a0001c0002t0002g0043 others(4): Show |
7 | 14 | 0.5000 | 7 | c.-43 others(18): Show |
CMTM4 | ENSG00000183723.13 | transcript | ENST00000394106.7 | protein_coding | 4165 | chr16 | TogoVar | |||||||
CMTM8_chr3_32233680_32375321 | 32295455 | C | CAAAAAAA | intron_variant | MODIFIER | HG00323.hp2 HG01074.hp1 HG01433.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002 a0001c0001t0001g0034 a0001c0001t0001g0054 others(4): Show |
7 | 202 | 0.0347 | 7 | c.147 others(26): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMTM8_chr3_32233680_32375321 | 32319074 | A | ATTTTTTT | intron_variant | MODIFIER | HG01261.hp2 HG01943.hp2 HG01978.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0126 a0001c0001t0001g0156 a0001c0001t0001g0237 others(5): Show |
8 | 66 | 0.1212 | 7 | 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 | 32319075 | T | TATATATA | intron_variant | MODIFIER | HG00741.hp2 HG01071.hp2 HG01074.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0322 |
3 | 320 | 0.0094 | 7 | c.148 others(26): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 1/3 | chr3 | TogoVar | |||||||
CMYA5_chr5_79684836_79805222 | 79688942 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02451.hp2 HG02572.hp1 others(9): Show |
a0002a0003a0005others(6): Show | a0002c0106a0003c0003a0005c0005others(7): Show | a0002c0106t0007a0003c0003t0005a0005c0005t0004others(7): Show | a0002c0106t0007g0029 a0003c0003t0005g0035 a0005c0005t0004g0017 others(8): Show |
12 | 53 | 0.2264 | 7 | c.-96 others(16): Show |
CMYA5 | ENSG00000164309.15 | transcript | ENST00000446378.3 | protein_coding | 893 | chr5 | TogoVar | |||||||
CMYA5_chr5_79684836_79805222 | 79701090 | C | CCAAAAAA | intron_variant | MODIFIER | HG02559.hp1 HG02630.hp2 HG02895.hp2 others(9): Show |
a0003a0012a0013others(3): Show | a0003c0003a0003c0034a0012c0015others(4): Show | a0003c0003t0005a0003c0003t0008a0003c0034t0012others(6): Show | a0003c0003t0005g0020 a0003c0003t0008g0018 a0003c0034t0012g0021 others(9): Show |
12 | 156 | 0.0769 | 7 | c.149 others(26): Show |
CMYA5 | ENSG00000164309.15 | transcript | ENST00000446378.3 | protein_coding | 1/12 | chr5 | TogoVar | |||||||
CMYA5_chr5_79684836_79805222 | 79726909 | A | ATTTTTTT | intron_variant | MODIFIER | HG02258.hp2 HG02280.hp1 HG02559.hp2 others(16): Show |
a0008a0013a0024others(6): Show | a0008c0008a0013c0016a0024c0025others(6): Show | a0008c0008t0001a0008c0008t0002a0008c0008t0004others(9): Show | a0008c0008t0001g0138 a0008c0008t0001g0311 a0008c0008t0001g0340 others(16): Show |
19 | 175 | 0.1086 | 7 | c.150 others(24): Show |
CMYA5 | ENSG00000164309.15 | transcript | ENST00000446378.3 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 86940132 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00558.hp1 others(31): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 others(31): Show |
34 | 54 | 0.6296 | 7 | c.431 others(22): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 86951581 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG01257.hp2 HG02486.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0037 a0001c0001t0001g0081 others(6): Show |
9 | 11 | 0.8182 | 7 | c.431 others(26): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 87036594 | T | TAAAAAAA | intron_variant | MODIFIER | HG01261.hp2 HG02723.hp1 HG03225.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0001 | a0001c0001t0001g0038 a0001c0001t0001g0088 a0001c0001t0001g0118 others(2): Show |
5 | 62 | 0.0806 | 7 | c.431 others(26): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 87087245 | A | ACGTATAT | intron_variant | MODIFIER | HG01070.hp1 HG03579.hp1 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0083 a0003c0003t0001g0006 |
2 | 152 | 0.0132 | 7 | 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 | 87136711 | T | TAAATATA | intron_variant | MODIFIER | HG00099.hp2 HG00741.hp2 HG01099.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 others(2): Show |
5 | 152 | 0.0329 | 7 | c.432 others(26): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | chr8 | TogoVar | |||||||
CNBD1_chr8_86861415_87387859 | 87136733 | T | TATATATA | intron_variant | MODIFIER | HG00741.hp1 HG02895.hp1 NA18939.hp1 others(2): Show |
a0001a0007 | a0001c0001a0007c0011 | a0001c0001t0001a0007c0011t0001 | a0001c0001t0001g0031 a0001c0001t0001g0056 a0001c0001t0001g0129 others(2): Show |
5 | 134 | 0.0373 | 7 | c.432 others(26): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | chr8 | TogoVar | |||||||
CNBD1_chr8_86861415_87387859 | 87136780 | T | TAAATATA | intron_variant | MODIFIER | HG01070.hp1 HG03516.hp1 |
a0002a0008 | a0002c0002a0008c0010 | a0002c0002t0001a0008c0010t0002 | a0002c0002t0001g0083 a0008c0010t0002g0072 |
2 | 143 | 0.0140 | 7 | c.432 others(26): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | chr8 | TogoVar | |||||||
CNBD1_chr8_86861415_87387859 | 87136969 | A | ATATATAT | intron_variant | MODIFIER | HG01167.hp2 HG02486.hp1 HG02723.hp1 others(6): Show |
a0001a0002a0003 | a0001c0001a0002c0005a0003c0003 | a0001c0001t0001a0001c0001t0003a0002c0005t0001others(1): Show | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0081 others(6): Show |
9 | 76 | 0.1184 | 7 | c.432 others(26): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 87136995 | A | ATATATAT | intron_variant | MODIFIER | HG01243.hp1 HG02257.hp1 HG02622.hp2 |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0005c0007t0002 | a0001c0001t0001g0019 a0001c0001t0001g0079 a0005c0007t0002g0144 |
3 | 78 | 0.0385 | 7 | c.432 others(26): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 87137083 | A | ATATATAT | intron_variant | MODIFIER | NA18951.hp2 NA18980.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 a0001c0001t0001g0127 |
2 | 149 | 0.0134 | 7 | c.432 others(26): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 87256016 | T | TATATATA | intron_variant | MODIFIER | HG01256.hp1 HG01515.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 a0001c0001t0001g0135 |
2 | 138 | 0.0145 | 7 | c.771 others(26): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 6/10 | chr8 | TogoVar | |||||||
CNBD1_chr8_86861415_87387859 | 87386549 | A | AGAGAAAT | downstream_gene_variant | MODIFIER | HG02622.hp2 HG02809.hp1 HG03486.hp2 others(2): Show |
a0001a0003a0005others(1): Show | a0001c0001a0003c0003a0005c0007others(1): Show | a0001c0001t0002a0003c0003t0002a0005c0007t0002others(1): Show | a0001c0001t0002g0003 a0001c0001t0002g0069 a0003c0003t0002g0007 others(2): Show |
5 | 152 | 0.0329 | 7 | c.*39 others(18): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 3691 | chr8 | TogoVar | |||||||
CNDP1_chr18_74529500_74592212 | 74587627 | C | CACCACTT | downstream_gene_variant | MODIFIER | NA19058.hp2 NA19065.hp1 NA19087.hp1 |
a0001a0005 | a0001c0001a0005c0019 | a0001c0001t0002a0001c0001t0018a0005c0019t0029 | a0001c0001t0002g0230 a0001c0001t0018g0140 a0005c0019t0029g0052 |
3 | 388 | 0.0077 | 7 | c.*30 others(18): Show |
CNDP1 | ENSG00000150656.15 | transcript | ENST00000358821.8 | protein_coding | 416 | chr18 | TogoVar | |||||||
CNGA3_chr2_98341456_98403601 | 98367169 | T | TTATTTTC | intron_variant | MODIFIER | HG00597.hp1 HG00621.hp2 HG01243.hp2 others(21): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(3): Show | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(19): Show |
24 | 334 | 0.0719 | 7 | c.-37 others(24): Show |
CNGA3 | ENSG00000144191.12 | transcript | ENST00000272602.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNGA3_chr2_98341456_98403601 | 98367170 | T | TATTTTCC | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG01071.hp1 others(13): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0007 a0001c0001t0001g0044 a0001c0001t0001g0049 others(12): Show |
16 | 330 | 0.0485 | 7 | c.-37 others(24): Show |
CNGA3 | ENSG00000144191.12 | transcript | ENST00000272602.7 | protein_coding | 1/7 | chr2 | TogoVar | |||||||
CNKSR2_chrX_21369418_21659689 | 21495783 | C | CAAAAAAA | intron_variant | MODIFIER | HG02015.hp1 HG02615.hp2 HG02886.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0157 a0001c0001t0003g0060 a0001c0001t0005g0117 others(5): Show |
8 | 44 | 0.1818 | 7 | c.682 others(24): Show |
CNKSR2 | ENSG00000149970.16 | transcript | ENST00000379510.5 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CNKSR3_chr6_154382515_154515685 | 154424731 | C | CATGTTCA | intron_variant | MODIFIER | HG02080.hp2 HG02615.hp1 HG03710.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0006a0001c0001t0075a0001c0001t0076others(6): Show | a0001c0001t0006g0127 a0001c0001t0006g0170 a0001c0001t0006g0172 others(8): Show |
11 | 340 | 0.0324 | 7 | c.730 others(24): Show |
CNKSR3 | ENSG00000153721.19 | transcript | ENST00000607772.6 | protein_coding | 7/12 | chr6 | TogoVar | |||||||
CNN1_chr19_11533851_11555323 | 11534836 | G | GAGAAGAA | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG01081.hp1 others(32): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001a0001c0002t0002 | a0001c0001t0002g0014 a0001c0001t0002g0022 a0001c0001t0002g0054 others(24): Show |
35 | 378 | 0.0926 | 7 | c.-40 others(18): Show |
CNN1 | ENSG00000130176.8 | transcript | ENST00000252456.7 | protein_coding | 4014 | chr19 | TogoVar | |||||||
CNN2_chr19_1021608_1044065 | 1031339 | G | GGGGGGGA | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(121): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0021 a0001c0001t0001g0044 a0001c0001t0001g0053 others(68): Show |
124 | 386 | 0.3212 | 7 | c.185 others(22): Show |
CNN2 | ENSG00000064666.15 | transcript | ENST00000263097.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |