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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ALG12_chr22_49895229_49923438 | 49902715 | CTGTGTGT others(69): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0002 | a0001c0002t0031 | a0001c0002t0031g0070 | 1 | 348 | 0.0029 | -76 | c.*10 others(87): Show |
ALG12 | ENSG00000182858.14 | transcript | ENST00000330817.11 | protein_coding | 10/10 | 1047 | chr22 | TogoVar | ||||||
AMTN_chr4_70513569_70537743 | 70516325 | CGTATATA others(69): Show |
C | upstream_gene_variant | MODIFIER | NA18942.hp2 NA19079.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0004 a0002c0003t0001g0010 |
2 | 458 | 0.0044 | -76 | c.-23 others(87): Show |
AMTN | ENSG00000187689.10 | transcript | ENST00000339336.9 | protein_coding | 2243 | chr4 | TogoVar | |||||||
ANGPTL5_chr11_101885674_101921522 | 101889541 | GGTCTGAG others(69): Show |
G | downstream_gene_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0299 | 1 | 422 | 0.0024 | -76 | c.*16 others(87): Show |
ANGPTL5 | ENSG00000187151.7 | transcript | ENST00000334289.7 | protein_coding | 1132 | chr11 | TogoVar | |||||||
ANKFN1_chr17_56148475_56522016 | 56220812 | AAGGAAGG others(69): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG01106.hp2 HG01243.hp2 others(26): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0007others(11): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0029others(17): Show | a0001c0001t0001g0091 a0001c0001t0001g0098 a0001c0001t0001g0099 others(26): Show |
29 | 112 | 0.2589 | -76 | c.13- others(91): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ANKLE2_chr12_132720503_132766832 | 132732152 | CGCTCTGC others(69): Show |
C | intron_variant | MODIFIER | HG03471.hp2 NA21309.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0279 a0003c0003t0001g0330 |
2 | 350 | 0.0057 | -76 | c.189 others(95): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 10/12 | chr12 | TogoVar | |||||||
ANKLE2_chr12_132720503_132766832 | 132732198 | GTCCTGGT others(69): Show |
G | intron_variant | MODIFIER | HG03139.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0278 | 1 | 350 | 0.0029 | -76 | c.189 others(95): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 10/12 | chr12 | TogoVar | |||||||
ANKLE2_chr12_132720503_132766832 | 132733372 | CCTGGTGT others(69): Show |
C | intron_variant | MODIFIER | NA18942.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0162 | 1 | 350 | 0.0029 | -76 | c.189 others(94): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 10/12 | chr12 | TogoVar | |||||||
ANKLE2_chr12_132720503_132766832 | 132738103 | TGCTGTGC others(69): Show |
T | intron_variant | MODIFIER | HG03540.hp1 | a0003 | a0003c0003 | a0003c0003t0018 | a0003c0003t0018g0319 | 1 | 350 | 0.0029 | -76 | c.142 others(95): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 7/12 | chr12 | TogoVar | |||||||
ANKRD11_chr16_89262630_89495561 | 89399979 | TCCTGCGC others(69): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp1 |
a0010 | a0010c0014 | a0010c0014t0003 | a0010c0014t0003g0089 a0010c0014t0003g0271 |
2 | 310 | 0.0065 | -76 | c.-60 others(95): Show |
ANKRD11 | ENSG00000167522.17 | transcript | ENST00000301030.10 | protein_coding | 2/12 | chr16 | TogoVar | |||||||
ANKRD11_chr16_89262630_89495561 | 89400031 | CCGGTCAT others(69): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01256.hp1 HG01433.hp1 others(13): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0024a0002c0002others(4): Show | a0001c0001t0001a0001c0024t0001a0002c0002t0002others(4): Show | a0001c0001t0001g0019 a0001c0001t0001g0151 a0001c0001t0001g0196 others(13): Show |
16 | 310 | 0.0516 | -76 | c.-60 others(95): Show |
ANKRD11 | ENSG00000167522.17 | transcript | ENST00000301030.10 | protein_coding | 2/12 | chr16 | TogoVar | |||||||
ANKRD11_chr16_89262630_89495561 | 89400564 | CGGTCATC others(69): Show |
C | intron_variant | MODIFIER | HG03130.hp2 HG03209.hp2 |
a0013 | a0013c0019 | a0013c0019t0004 | a0013c0019t0004g0083 a0013c0019t0004g0084 |
2 | 310 | 0.0065 | -76 | c.-60 others(95): Show |
ANKRD11 | ENSG00000167522.17 | transcript | ENST00000301030.10 | protein_coding | 2/12 | chr16 | TogoVar | |||||||
ANKRD11_chr16_89262630_89495561 | 89400678 | CGGTCATC others(69): Show |
C | intron_variant | MODIFIER | HG02615.hp2 HG02647.hp1 HG02886.hp1 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0002c0002others(2): Show | a0001c0001t0001a0001c0006t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 others(8): Show |
11 | 310 | 0.0355 | -76 | c.-60 others(95): Show |
ANKRD11 | ENSG00000167522.17 | transcript | ENST00000301030.10 | protein_coding | 2/12 | chr16 | TogoVar | |||||||
ANTXR1_chr2_69008179_69254327 | 69096286 | AAGGGAGG others(69): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG02559.hp1 HG02698.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0059 a0001c0001t0002g0018 a0001c0001t0005g0010 others(5): Show |
8 | 206 | 0.0388 | -76 | c.703 others(93): Show |
ANTXR1 | ENSG00000169604.21 | transcript | ENST00000303714.9 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AOPEP_chr9_94721699_95092159 | 95091841 | AAGACCAA others(69): Show |
A | downstream_gene_variant | MODIFIER | NA18964.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0154 | 1 | 182 | 0.0055 | -76 | c.*51 others(87): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 4683 | chr9 | TogoVar | |||||||
ARHGAP21_chr10_24578614_24728887 | 24655814 | TCTCTGCC others(69): Show |
T | intron_variant | MODIFIER | HG00609.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0179 | 1 | 352 | 0.0028 | -76 | c.268 others(95): Show |
ARHGAP21 | ENSG00000107863.20 | transcript | ENST00000396432.7 | protein_coding | 4/25 | chr10 | TogoVar | |||||||
ARL10_chr5_176360487_176386909 | 176371498 | GCCTGATA others(69): Show |
G | intron_variant | MODIFIER | HG00609.hp2 HG01192.hp2 HG01891.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0010others(8): Show | a0001c0001t0002g0028 a0001c0001t0003g0028 a0001c0001t0010g0105 others(8): Show |
11 | 418 | 0.0263 | -76 | c.562 others(90): Show |
ARL10 | ENSG00000175414.7 | transcript | ENST00000310389.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ASIC2_chr17_33008087_33298295 | 33269675 | CCTCCCTC others(69): Show |
C | intron_variant | MODIFIER | HG01358.hp2 NA18747.hp1 NA18990.hp1 others(2): Show |
a0001a0002 | a0001c0004a0002c0003 | a0001c0004t0001a0002c0003t0001a0002c0003t0002others(1): Show | a0001c0004t0001g0168 a0002c0003t0001g0181 a0002c0003t0002g0180 others(2): Show |
5 | 240 | 0.0208 | -76 | c.708 others(95): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
ASMTL_chrX_1398139_1457909 | 1453754 | AGTGGAGA others(69): Show |
A | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02622.hp1 HG03041.hp1 others(1): Show |
a0003a0014a0017 | a0003c0002a0003c0006a0014c0027others(1): Show | a0003c0002t0001a0003c0006t0001a0014c0027t0001others(1): Show | a0003c0002t0001g0159 a0003c0006t0001g0097 a0014c0027t0001g0160 others(1): Show |
4 | 185 | 0.0216 | -76 | c.-99 others(85): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 846 | chrX | TogoVar | |||||||
AVPI1_chr10_97672424_97692241 | 97678880 | GGTGTGTG others(69): Show |
G | intron_variant | MODIFIER | HG03041.hp1 HG03130.hp2 NA19030.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0195 a0001c0004t0001g0196 a0001c0004t0001g0260 |
3 | 446 | 0.0067 | -76 | c.287 others(91): Show |
AVPI1 | ENSG00000119986.7 | transcript | ENST00000370626.4 | protein_coding | 2/2 | chr10 | TogoVar | |||||||
B3GALT1_chr2_167288001_167879045 | 167512548 | ATATATAT others(69): Show |
A | intron_variant | MODIFIER | HG02615.hp1 HG02717.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0073 a0001c0001t0005g0058 |
2 | 118 | 0.0170 | -76 | c.-41 others(97): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 82972075 | ACACACCA others(69): Show |
A | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0011 | a0001c0011t0010 | a0001c0011t0010g0146 | 1 | 266 | 0.0038 | -76 | c.460 others(93): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
B4GALNT4_chr11_364499_387117 | 374940 | GGAGGAGG others(69): Show |
G | intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0023 | a0001c0023t0002 | a0001c0023t0002g0041 | 1 | 184 | 0.0054 | -76 | c.784 others(91): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | chr11 | TogoVar | |||||||
B4GALNT4_chr11_364499_387117 | 384901 | ACACAGCT others(69): Show |
A | downstream_gene_variant | MODIFIER | HG02559.hp2 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0164 a0001c0001t0005g0165 |
2 | 184 | 0.0109 | -76 | c.*31 others(87): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 2785 | chr11 | TogoVar | |||||||
B4GALNT4_chr11_364499_387117 | 384908 | TGGGCAAG others(69): Show |
T | downstream_gene_variant | MODIFIER | HG02559.hp1 HG03195.hp1 |
a0003 | a0003c0012a0003c0038 | a0003c0012t0002a0003c0038t0001 | a0003c0012t0002g0022 a0003c0038t0001g0021 |
2 | 184 | 0.0109 | -76 | c.*31 others(87): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 2792 | chr11 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159325040 | ATATTATA others(69): Show |
A | intron_variant | MODIFIER | HG03540.hp2 NA19084.hp1 |
a0001a0004 | a0001c0020a0004c0004 | a0001c0020t0001a0004c0004t0001 | a0001c0020t0001g0046 a0004c0004t0001g0109 |
2 | 216 | 0.0093 | -76 | c.621 others(92): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 35/36 | chr2 | TogoVar | |||||||
BCOR_chrX_40046251_40102958 | 40046524 | ATATATAT others(69): Show |
A | downstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0107 | 1 | 257 | 0.0039 | -76 | c.*55 others(87): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 4726 | chrX | TogoVar | |||||||
BDKRB2_chr14_96199839_96249164 | 96243240 | AGCTAGAA others(69): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01346.hp1 others(14): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0015a0001c0001t0019a0001c0001t0029others(5): Show | a0001c0001t0015g0085 a0001c0001t0015g0095 a0001c0001t0015g0216 others(14): Show |
17 | 436 | 0.0390 | -76 | c.*18 others(87): Show |
BDKRB2 | ENSG00000168398.7 | transcript | ENST00000554311.2 | protein_coding | 3/3 | 1847 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
BICD1_chr12_32101847_32388633 | 32346540 | ATATATAT others(69): Show |
A | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0061 | a0001c0001t0061g0226 | 1 | 290 | 0.0035 | -76 | c.276 others(95): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32346562 | ATATATAT others(69): Show |
A | intron_variant | MODIFIER | NA18988.hp1 NA18998.hp1 NA18999.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004 | a0001c0002t0001g0200 a0001c0002t0004g0009 a0001c0002t0004g0171 |
3 | 290 | 0.0103 | -76 | c.276 others(95): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BOK_chr2_241553745_241579131 | 241570652 | AGGAGGGA others(69): Show |
A | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 434 | 0.0023 | -76 | c.513 others(91): Show |
BOK | ENSG00000176720.6 | transcript | ENST00000318407.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BOK_chr2_241553745_241579131 | 241570805 | AGGAGGGA others(69): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp2 others(84): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0014a0001c0001t0016others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0021 others(47): Show |
87 | 434 | 0.2005 | -76 | c.513 others(91): Show |
BOK | ENSG00000176720.6 | transcript | ENST00000318407.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BPIFA3_chr20_33212352_33232806 | 33222559 | GATGGATG others(69): Show |
G | intron_variant | MODIFIER | HG02145.hp2 HG02647.hp1 HG02717.hp2 others(9): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0002a0004c0004t0002 | a0001c0001t0002g0010 a0001c0001t0002g0026 a0004c0004t0002g0020 |
12 | 416 | 0.0289 | -76 | c.128 others(93): Show |
BPIFA3 | ENSG00000131059.12 | transcript | ENST00000375454.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BTBD2_chr19_1980448_2020714 | 2015866 | CGGGAAGG others(69): Show |
C | upstream_gene_variant | MODIFIER | HG02004.hp2 NA19030.hp1 |
a0002a0005 | a0002c0005a0005c0018 | a0002c0005t0002a0005c0018t0001 | a0002c0005t0002g0028 a0005c0018t0001g0125 |
2 | 364 | 0.0055 | -76 | c.-23 others(85): Show |
BTBD2 | ENSG00000133243.10 | transcript | ENST00000255608.9 | protein_coding | 153 | chr19 | TogoVar | |||||||
C13orf46_chr13_113948705_113979076 | 113976139 | ACCCACCA others(69): Show |
A | upstream_gene_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG00741.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007a0001c0001t0019others(5): Show | a0001c0001t0005g0009 a0001c0001t0005g0029 a0001c0001t0005g0080 others(13): Show |
22 | 414 | 0.0531 | -76 | c.-22 others(87): Show |
C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 2064 | chr13 | TogoVar | |||||||
C13orf46_chr13_113948705_113979076 | 113976259 | CACACAGA others(69): Show |
C | upstream_gene_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0082 | a0001c0001t0082g0129 | 1 | 414 | 0.0024 | -76 | c.-23 others(87): Show |
C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 2184 | chr13 | TogoVar | |||||||
C17orf67_chr17_56786913_56838920 | 56811470 | AGCTCGAG others(69): Show |
A | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 292 | 0.0034 | -76 | c.156 others(93): Show |
C17orf67 | ENSG00000214226.9 | transcript | ENST00000397861.7 | protein_coding | 6/7 | chr17 | TogoVar | |||||||
C2CD3_chr11_74007718_74176002 | 74129585 | TCCAGACT others(69): Show |
T | intron_variant | MODIFIER | HG01074.hp2 HG02258.hp1 HG02486.hp1 others(7): Show |
a0004a0014 | a0004c0004a0014c0020 | a0004c0004t0001a0014c0020t0004 | a0004c0004t0001g0036 a0004c0004t0001g0037 a0004c0004t0001g0038 others(7): Show |
10 | 318 | 0.0315 | -76 | c.121 others(95): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 7/32 | chr11 | TogoVar | |||||||
C8orf33_chr8_145047467_145061030 | 145052242 | CCGCCCCG others(69): Show |
C | upstream_gene_variant | MODIFIER | HG00609.hp2 HG00738.hp2 HG01168.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(3): Show |
17 | 406 | 0.0419 | -76 | c.-24 others(85): Show |
C8orf33 | ENSG00000182307.14 | transcript | ENST00000331434.7 | protein_coding | 224 | chr8 | TogoVar | |||||||
CAB39L_chr13_49303650_49449064 | 49318496 | GGGAAAGG others(69): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG00639.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(2): Show | a0001c0001t0001g0154 a0001c0001t0001g0177 a0001c0001t0001g0239 others(18): Show |
21 | 324 | 0.0648 | -76 | c.835 others(93): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 10/10 | chr13 | TogoVar | |||||||
CACNB2_chr10_18135424_18548557 | 18442938 | ATATGTGT others(69): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG01074.hp1 HG01109.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(6): Show | a0001c0001t0001g0034 a0001c0001t0001g0067 a0001c0001t0001g0127 others(15): Show |
18 | 200 | 0.0900 | -76 | c.333 others(95): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18442922 | ATATGTAT others(69): Show |
A | intron_variant | MODIFIER | NA18971.hp1 NA18979.hp2 NA19067.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0065a0001c0002t0004 | a0001c0001t0001g0130 a0001c0001t0065g0172 a0001c0002t0004g0113 |
3 | 302 | 0.0099 | -76 | c.171 others(95): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18442938 | ATATGTGT others(69): Show |
A | intron_variant | MODIFIER | HG00558.hp2 HG00738.hp1 HG01070.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0002a0001c0002t0006others(6): Show | a0001c0001t0001g0139 a0001c0001t0001g0174 a0001c0002t0002g0009 others(23): Show |
26 | 302 | 0.0861 | -76 | c.171 others(95): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CADPS2_chr7_122313411_122891460 | 122705450 | ATATTATC others(69): Show |
A | intron_variant | MODIFIER | HG03453.hp1 HG03516.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0001 | a0001c0001t0002g0076 a0001c0003t0001g0074 |
2 | 126 | 0.0159 | -76 | c.453 others(95): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 2/29 | chr7 | TogoVar | |||||||
CAMK2B_chr7_44212154_44330594 | 44227658 | GTGTAGGG others(69): Show |
G | intron_variant | MODIFIER | HG01074.hp2 HG01123.hp2 HG01433.hp1 |
a0001a0004 | a0001c0001a0001c0007a0004c0016 | a0001c0001t0005a0001c0007t0009a0004c0016t0009 | a0001c0001t0005g0124 a0001c0007t0009g0086 a0004c0016t0009g0006 |
3 | 242 | 0.0124 | -76 | c.146 others(95): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 19/23 | chr7 | TogoVar | |||||||
CAMK2B_chr7_44212154_44330594 | 44227660 | GTAGGGAA others(69): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG02056.hp1 HG02135.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0005others(1): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0030others(5): Show | a0001c0001t0004g0040 a0001c0001t0005g0131 a0001c0001t0005g0159 others(10): Show |
13 | 242 | 0.0537 | -76 | c.146 others(95): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 19/23 | chr7 | TogoVar | |||||||
CAMKMT_chr2_44356947_44777592 | 44409107 | ATATATAT others(69): Show |
A | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 198 | 0.0051 | -76 | c.376 others(95): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CAMSAP2_chr1_200733893_200865704 | 200816838 | ATGTGTGT others(69): Show |
A | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0277 | 1 | 366 | 0.0027 | -76 | c.645 others(93): Show |
CAMSAP2 | ENSG00000118200.15 | transcript | ENST00000358823.7 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMSAP2_chr1_200733893_200865704 | 200817185 | CACACATG others(69): Show |
C | intron_variant | MODIFIER | HG02723.hp2 HG02896.hp1 |
a0004 | a0004c0005 | a0004c0005t0014 | a0004c0005t0014g0023 a0004c0005t0014g0024 |
2 | 366 | 0.0055 | -76 | c.645 others(93): Show |
CAMSAP2 | ENSG00000118200.15 | transcript | ENST00000358823.7 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44181785 | ACACACAC others(69): Show |
A | intron_variant | MODIFIER | HG02965.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0383 | 1 | 460 | 0.0022 | -76 | c.193 others(93): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CARS2_chr13_110636417_110711116 | 110677242 | CCAGACAG others(69): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(153): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0005others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(15): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(139): Show |
156 | 372 | 0.4194 | -76 | c.656 others(91): Show |
CARS2 | ENSG00000134905.17 | transcript | ENST00000257347.9 | protein_coding | 6/14 | chr13 | TogoVar |