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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CMKLR2_chr2_206170316_206218371 | 206172860 | AGGGAGAC others(30): Show |
A | downstream_gene_variant | MODIFIER | HG00408.hp1 HG02647.hp1 NA18944.hp2 others(2): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0004t0001 | a0002c0002t0001g0014a0002c0004t0001g0231a0002c0004t0001g0293others(2): Show | 5 | 322 | 0.0155 | -37 | c.*32 others(48): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 2455 | chr2 | TogoVar | ||||||
CMKLR2_chr2_206170316_206218371 | 206172885 | AGGGAGAC others(30): Show |
A | downstream_gene_variant | MODIFIER | HG02293.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0030 | 1 | 322 | 0.0031 | -37 | c.*32 others(48): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 2430 | chr2 | TogoVar | ||||||
CMKLR2_chr2_206170316_206218371 | 206172910 | AGGGAGAC others(30): Show |
A | downstream_gene_variant | MODIFIER | HG01884.hp2 NA18964.hp2 |
a0002 | a0002c0003a0002c0004 | a0002c0003t0003a0002c0004t0001 | a0002c0003t0003g0023a0002c0004t0001g0303 | 2 | 322 | 0.0062 | -37 | c.*32 others(48): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 2405 | chr2 | TogoVar | ||||||
CMKLR2_chr2_206170316_206218371 | 206172935 | AGGGAGAC others(30): Show |
A | downstream_gene_variant | MODIFIER | HG03490.hp2 NA19009.hp1 |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0004t0001 | a0002c0002t0001g0032a0002c0004t0001g0218 | 2 | 322 | 0.0062 | -37 | c.*32 others(48): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 2380 | chr2 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 87347456 | ATATACAA others(30): Show |
A | intron_variant | MODIFIER | HG02809.hp1 HG03486.hp2 NA18522.hp2 |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0002a0004c0003t0002 | a0001c0001t0002g0003a0001c0001t0002g0069a0004c0003t0002g0007 | 3 | 152 | 0.0197 | -37 | c.104 others(56): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNDP2_chr18_74491363_74528454 | 74514556 | GATGTAAG others(30): Show |
G | intron_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 424 | 0.0024 | -37 | c.903 others(52): Show |
CNDP2 | ENSG00000133313.15 | transcript | ENST00000324262.9 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CNDP2_chr18_74491363_74528454 | 74514577 | GGGCTTAC others(30): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(71): Show |
a0001a0011 | a0001c0001a0001c0003a0011c0018 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0017others(46): Show | 74 | 424 | 0.1745 | -37 | c.903 others(52): Show |
CNDP2 | ENSG00000133313.15 | transcript | ENST00000324262.9 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CNOT4_chr7_135356795_135515102 | 135472503 | AAAAAAAA others(30): Show |
A | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0182 | 1 | 362 | 0.0028 | -37 | c.-92 others(56): Show |
CNOT4 | ENSG00000080802.21 | transcript | ENST00000541284.6 | protein_coding | 1/11 | chr7 | TogoVar | ||||||
CNOT4_chr7_135356795_135515102 | 135495689 | AAAAAGAA others(30): Show |
A | intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0272 | 1 | 362 | 0.0028 | -37 | c.-93 others(56): Show |
CNOT4 | ENSG00000080802.21 | transcript | ENST00000541284.6 | protein_coding | 1/11 | chr7 | TogoVar | ||||||
CNOT6_chr5_180489379_180583358 | 180539551 | CTTTTTTT others(30): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02976.hp1 HG06807.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0022a0001c0003t0022 | a0001c0001t0022g0225a0001c0003t0022g0220a0001c0003t0022g0222 | 3 | 334 | 0.0090 | -37 | c.112 others(56): Show |
CNOT6 | ENSG00000113300.13 | transcript | ENST00000261951.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CNOT7_chr8_17219966_17251857 | 17237145 | ACCCAAGT others(30): Show |
A | intron_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0078 | 1 | 408 | 0.0025 | -37 | c.473 others(50): Show |
CNOT7 | ENSG00000198791.12 | transcript | ENST00000361272.9 | protein_coding | 4/6 | chr8 | TogoVar | ||||||
CNTN1_chr12_40687439_41077415 | 41057028 | TAAATATT others(30): Show |
T | intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0003 | a0001c0003t0011 | a0001c0003t0011g0199 | 1 | 230 | 0.0044 | -37 | c.298 others(58): Show |
CNTN1 | ENSG00000018236.15 | transcript | ENST00000551295.7 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CNTN4_chr3_2093866_3062959 | 2916732 | GGTGGCGG others(30): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02257.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(7): Show | a0001c0001t0003a0001c0001t0009a0001c0002t0001others(8): Show | a0001c0001t0003g0095a0001c0001t0009g0052a0001c0002t0001g0029others(9): Show | 12 | 116 | 0.1035 | -37 | c.120 others(56): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 12/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CNTN5_chr11_99015949_100363885 | 99817332 | AAAGGAAG others(30): Show |
A | intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 66 | 0.0152 | -37 | c.56- others(52): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CNTNAP3B_chr9_41885536_42134426 | 41899082 | ACCCTCGT others(30): Show |
A | intron_variant | MODIFIER | HG02109.hp2 | a0027 | a0027c0026 | a0027c0026t0020 | a0027c0026t0020g0027 | 1 | 108 | 0.0093 | -37 | c.344 others(53): Show |
CNTNAP3B | ENSG00000154529.15 | transcript | ENST00000377561.7 | protein_coding | 21/23 | chr9 | TogoVar | ||||||
COL13A1_chr10_69796906_69964144 | 69936141 | GAAGGAAG others(30): Show |
G | intron_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 324 | 0.0031 | -37 | c.177 others(54): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 32/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
COL26A1_chr7_101357875_101564024 | 101489719 | TTCTTTCT others(30): Show |
T | intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0098 | 1 | 174 | 0.0058 | -37 | c.385 others(56): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL6A1_chr21_45976770_46010048 | 45988023 | CGGGGTCC others(30): Show |
C | intron_variant | MODIFIER | HG03492.hp1 | a0019 | a0019c0032 | a0019c0032t0002 | a0019c0032t0002g0008 | 1 | 128 | 0.0078 | -37 | c.804 others(52): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL6A3_chr2_237319018_237419164 | 237343512 | CTCAAAAA others(30): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01928.hp1 others(2): Show |
a0006a0023a0046others(1): Show | a0006c0007a0023c0032a0046c0065others(1): Show | a0006c0007t0002a0023c0032t0001a0046c0065t0002others(1): Show | a0006c0007t0002g0285a0023c0032t0001g0001a0046c0065t0002g0275others(1): Show | 5 | 322 | 0.0155 | -37 | c.766 others(54): Show |
COL6A3 | ENSG00000163359.17 | transcript | ENST00000295550.9 | protein_coding | 36/43 | chr2 | TogoVar | ||||||
COL6A3_chr2_237319018_237419164 | 237343514 | CAAAAAAA others(30): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00642.hp1 others(63): Show |
a0001a0003a0006others(16): Show | a0001c0002a0001c0004a0001c0037others(27): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(34): Show | a0001c0002t0001g0036a0001c0002t0001g0115a0001c0002t0001g0150others(63): Show | 66 | 322 | 0.2050 | -37 | c.766 others(54): Show |
COL6A3 | ENSG00000163359.17 | transcript | ENST00000295550.9 | protein_coding | 36/43 | chr2 | TogoVar | ||||||
COL6A3_chr2_237319018_237419164 | 237343540 | AAAAAAAA others(30): Show |
A | intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0230 | 1 | 322 | 0.0031 | -37 | c.766 others(54): Show |
COL6A3 | ENSG00000163359.17 | transcript | ENST00000295550.9 | protein_coding | 36/43 | chr2 | TogoVar | ||||||
COLEC11_chr2_3590112_3649644 | 3635077 | CTCCCCTG others(30): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(185): Show |
a0001a0002a0006 | a0001c0001a0001c0014a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0009others(179): Show | 188 | 378 | 0.4974 | -37 | c.203 others(54): Show |
COLEC11 | ENSG00000118004.18 | transcript | ENST00000349077.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COMMD10_chr5_116080025_116298287 | 116129441 | TAATGTAA others(30): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00621.hp2 others(32): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0001a0002c0003t0001g0002a0002c0003t0001g0036others(30): Show | 35 | 350 | 0.1000 | -37 | c.400 others(54): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
COMT_chr22_19936772_19974975 | 19952262 | ACCACTGC others(30): Show |
A | intron_variant | MODIFIER | HG03834.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0026 | 1 | 426 | 0.0024 | -37 | c.-91 others(54): Show |
COMT | ENSG00000093010.15 | transcript | ENST00000361682.11 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
COMT_chr22_19936772_19974975 | 19952275 | AGCCTGGG others(30): Show |
A | intron_variant | MODIFIER | HG03041.hp1 HG03225.hp1 |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0006 | a0001c0003t0003g0392a0001c0003t0006g0393 | 2 | 426 | 0.0047 | -37 | c.-91 others(54): Show |
COMT | ENSG00000093010.15 | transcript | ENST00000361682.11 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
COP1_chr1_175939831_176212286 | 176132771 | CTATATAT others(30): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG01070.hp1 HG01070.hp2 others(31): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0055a0001c0001t0001g0057a0001c0001t0001g0066others(31): Show | 34 | 300 | 0.1133 | -37 | c.968 others(54): Show |
COP1 | ENSG00000143207.21 | transcript | ENST00000367669.8 | protein_coding | 8/19 | chr1 | TogoVar | ||||||
CPHXL_chr16_75709131_75731490 | 75726174 | CTCCACTT others(30): Show |
C | intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0178 | 1 | 388 | 0.0026 | -37 | c.25+ others(50): Show |
CPHXL | ENSG00000283755.2 | transcript | ENST00000640559.2 | protein_coding | 1/2 | chr16 | TogoVar | ||||||
CPLX1_chr4_779957_831129 | 820728 | GCACCCCT others(30): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(141): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0010a0001c0001t0001g0051a0001c0001t0001g0056others(133): Show | 144 | 416 | 0.3462 | -37 | c.31+ others(52): Show |
CPLX1 | ENSG00000168993.15 | transcript | ENST00000304062.11 | protein_coding | 2/3 | chr4 | TogoVar | ||||||
CPLX1_chr4_779957_831129 | 820783 | ACGTGAAC others(30): Show |
A | intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0382 | 1 | 416 | 0.0024 | -37 | c.31+ others(52): Show |
CPLX1 | ENSG00000168993.15 | transcript | ENST00000304062.11 | protein_coding | 2/3 | chr4 | TogoVar | ||||||
CPM_chr12_68846175_68938171 | 68934163 | TAACCGTG others(30): Show |
T | upstream_gene_variant | MODIFIER | NA18940.hp2 NA18968.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0037a0001c0002t0002g0049 | 2 | 340 | 0.0059 | -37 | c.-10 others(48): Show |
CPM | ENSG00000135678.12 | transcript | ENST00000551568.6 | protein_coding | 993 | chr12 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 131814572 | ATTTTTTT others(30): Show |
A | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0072 | 1 | 94 | 0.0106 | -37 | c.180 others(56): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 2/15 | chr3 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89587716 | GCACCCCC others(30): Show |
G | intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 348 | 0.0029 | -37 | c.927 others(52): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CPNE7_chr16_89570758_89602246 | 89587738 | TACACGGC others(30): Show |
T | intron_variant | MODIFIER | NA19057.hp2 NA19080.hp1 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0003a0002c0003t0003 | a0001c0002t0003g0272a0002c0003t0003g0152 | 2 | 348 | 0.0058 | -37 | c.927 others(52): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CPNE7_chr16_89570758_89602246 | 89587786 | CGTGTCAC others(30): Show |
C | intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0034 | 1 | 348 | 0.0029 | -37 | c.927 others(52): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89587818 | CACCCGCG others(30): Show |
C | intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0211 | 1 | 348 | 0.0029 | -37 | c.927 others(52): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CPNE7_chr16_89570758_89602246 | 89587850 | CGTGTTAC others(30): Show |
C | intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0317 | 1 | 348 | 0.0029 | -37 | c.927 others(52): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | chr16 | TogoVar | ||||||
CPNE8_chr12_38647203_38910591 | 38900850 | GCTTTTTA others(30): Show |
G | intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0209 | 1 | 342 | 0.0029 | -37 | c.98+ others(52): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 1/19 | chr12 | TogoVar | ||||||
CPT1C_chr19_49686116_49718731 | 49713185 | AGGAGTCC others(30): Show |
A | intron_variant | MODIFIER | HG01192.hp2 HG01928.hp1 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0002a0002c0003t0001 | a0001c0002t0002g0198a0002c0003t0001g0142 | 2 | 350 | 0.0057 | -37 | c.222 others(54): Show |
CPT1C | ENSG00000169169.15 | transcript | ENST00000598293.6 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CPXM2_chr10_123740639_123896807 | 123800207 | TGGTTCAT others(30): Show |
T | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0288 | 1 | 288 | 0.0035 | -37 | c.654 others(54): Show |
CPXM2 | ENSG00000121898.13 | transcript | ENST00000241305.4 | protein_coding | 4/13 | chr10 | TogoVar | ||||||
CREB3L2_chr7_137869979_138007086 | 137901130 | TGTGTGCA others(30): Show |
T | intron_variant | MODIFIER | HG01175.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0254 | 1 | 288 | 0.0035 | -37 | c.104 others(54): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 8/11 | chr7 | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1308006 | TAGACCTT others(30): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG02622.hp2 HG02897.hp2 others(1): Show |
a0002a0004 | a0002c0003a0002c0004a0004c0010 | a0002c0003t0002a0002c0004t0007a0004c0010t0006 | a0002c0003t0002g0141a0002c0003t0002g0145a0002c0004t0007g0152others(1): Show | 4 | 159 | 0.0252 | -37 | c.112 others(56): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1314898 | CTGCTCAA others(30): Show |
C | downstream_gene_variant | MODIFIER | HG01106.hp1 HG01175.hp1 NA19080.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0055a0001c0001t0004g0057a0001c0001t0004g0114 | 3 | 159 | 0.0189 | -37 | c.*54 others(48): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 4964 | chrX | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3660480 | CTTTTTTT others(30): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG01261.hp1 HG02486.hp2 others(5): Show |
a0001a0002a0020 | a0001c0004a0001c0019a0001c0061others(5): Show | a0001c0004t0063a0001c0019t0078a0001c0061t0001others(5): Show | a0001c0004t0063g0095a0001c0019t0078g0105a0001c0061t0001g0021others(5): Show | 8 | 126 | 0.0635 | -37 | c.101 others(58): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 7/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3926038 | CACACAAA others(30): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG01934.hp2 HG02074.hp2 |
a0002a0004a0035 | a0002c0091a0004c0099a0035c0098 | a0002c0091t0002a0004c0099t0014a0035c0098t0025 | a0002c0091t0002g0114a0004c0099t0014g0020a0035c0098t0025g0019 | 3 | 126 | 0.0238 | -37 | c.818 others(56): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4920897 | AAAAGAAA others(30): Show |
A | intron_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0084 | a0002c0084t0018 | a0002c0084t0018g0087 | 1 | 126 | 0.0079 | -37 | c.85+ others(54): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
CSMD2_chr1_33508998_34170230 | 34082096 | ATCTGGGA others(30): Show |
A | intron_variant | MODIFIER | HG00673.hp1 NA18998.hp1 |
a0009a0010 | a0009c0055a0010c0056 | a0009c0055t0001a0010c0056t0001 | a0009c0055t0001g0049a0010c0056t0001g0047 | 2 | 66 | 0.0303 | -37 | c.404 others(54): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 2/70 | chr1 | TogoVar | ||||||
CSMD2_chr1_33508998_34170230 | 34082114 | GCCTCTGC others(30): Show |
G | intron_variant | MODIFIER | HG02055.hp2 | a0006 | a0006c0016 | a0006c0016t0004 | a0006c0016t0004g0034 | 1 | 66 | 0.0152 | -37 | c.404 others(54): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 2/70 | chr1 | TogoVar | ||||||
CSMD3_chr8_112217928_113441939 | 112494461 | CCTTTCTC others(30): Show |
C | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0002 | 1 | 80 | 0.0125 | -37 | c.508 others(56): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 30/70 | chr8 | TogoVar | ||||||
CSNK1D_chr17_82237667_82278700 | 82254211 | AGCTGAGC others(30): Show |
A | intron_variant | MODIFIER | HG02040.hp1 HG02129.hp2 HG02602.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0214a0001c0001t0006g0212a0001c0001t0006g0213others(4): Show | 7 | 320 | 0.0219 | -37 | c.337 others(53): Show |
CSNK1D | ENSG00000141551.15 | transcript | ENST00000314028.11 | protein_coding | 3/8 | chr17 | TogoVar | ||||||
CSNK2A1_chr20_467498_548790 | 490325 | CTAGTTTT others(30): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02109.hp2 HG02257.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0015a0001c0001t0019a0001c0001t0034others(5): Show | a0001c0001t0015g0278a0001c0001t0015g0281a0001c0001t0019g0007others(12): Show | 15 | 316 | 0.0475 | -37 | c.622 others(52): Show |
CSNK2A1 | ENSG00000101266.19 | transcript | ENST00000217244.9 | protein_coding | 9/13 | chr20 | TogoVar |