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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
YBEY_chr21_46281342_46302751 | 46292564 | A | AACTCTAG others(806): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0226 | 1 | 404 | 0.0025 | 813 | c.339 others(830): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294622 | A | AGCCACAC others(806): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 404 | 0.0025 | 813 | c.340 others(830): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ZBTB8A_chr1_32534427_32610941 | 32581182 | T | TTATATAT others(806): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0118 | a0001c0001t0118g0268 | 1 | 302 | 0.0033 | 813 | c.-1- others(830): Show |
ZBTB8A | ENSG00000160062.15 | transcript | ENST00000373510.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168975544 | T | TATAAATA others(807): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0215 | 1 | 306 | 0.0033 | 814 | c.130 others(833): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ABCC2_chr10_99777640_99857594 | 99838928 | T | TCCCGGAC others(807): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 336 | 0.0030 | 814 | c.361 others(833): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 25/31 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ABCC2_chr10_99777640_99857594 | 99838928 | T | TCCCGGAC others(807): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 336 | 0.0030 | 814 | c.361 others(833): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 25/31 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ABCC2_chr10_99777640_99857594 | 99838928 | T | TCCCGGAC others(807): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 336 | 0.0030 | 814 | c.361 others(833): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 25/31 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ABCC2_chr10_99777640_99857594 | 99838928 | T | TCCCGGAC others(807): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0243 | 1 | 336 | 0.0030 | 814 | c.361 others(833): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 25/31 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ABCC2_chr10_99777640_99857594 | 99838928 | T | TCCCGGAC others(807): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0245 | 1 | 336 | 0.0030 | 814 | c.361 others(833): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 25/31 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ABCC2_chr10_99777640_99857594 | 99838952 | C | CAGGGGGG others(807): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0192 | 1 | 336 | 0.0030 | 814 | c.361 others(833): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 25/31 | chr10 | TogoVar | |||||||
ABCC2_chr10_99777640_99857594 | 99838952 | C | CAGGGGGG others(807): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0002 | a0002c0003 | a0002c0003t0009 | a0002c0003t0009g0244 | 1 | 336 | 0.0030 | 814 | c.361 others(833): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 25/31 | chr10 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1153808 | A | ACGGGAGG others(807): Show |
intron_variant | MODIFIER | NA18950.hp2 NA18955.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 a0001c0001t0001g0195 |
2 | 337 | 0.0059 | 814 | c.61+ others(831): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1289093 | C | CCGTGTCT others(807): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0144 | 1 | 295 | 0.0034 | 814 | c.*44 others(825): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3297 | chr1 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1289509 | C | CCGTGTCT others(807): Show |
downstream_gene_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0006 | 1 | 295 | 0.0034 | 814 | c.*40 others(825): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2881 | chr1 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100058248 | T | TATCCCGG others(807): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0009 | a0009c0027 | a0009c0027t0001 | a0009c0027t0001g0196 | 1 | 228 | 0.0044 | 814 | c.213 others(833): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 15/21 | chr15 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100058248 | T | TATCCCGG others(807): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0197 | 1 | 228 | 0.0044 | 814 | c.213 others(833): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 15/21 | chr15 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113419038 | C | CCCCTTCC others(807): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 262 | 0.0038 | 814 | c.106 others(833): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
AFF2_chrX_148495617_149005663 | 148581249 | C | CGTATACG others(807): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0002 | a0001c0002t0101 | a0001c0002t0101g0160 | 1 | 169 | 0.0059 | 814 | c.48- others(831): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | chrX | TogoVar | |||||||
ARL13A_chrX_100964708_100995831 | 100972833 | G | GGGCGGGG others(807): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 | 1 | 280 | 0.0036 | 814 | c.-14 others(829): Show |
ARL13A | ENSG00000174225.15 | transcript | ENST00000450049.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ARL13A_chrX_100964708_100995831 | 100972833 | G | GGGCGGGG others(807): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0179 | 1 | 280 | 0.0036 | 814 | c.-14 others(829): Show |
ARL13A | ENSG00000174225.15 | transcript | ENST00000450049.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ARL13A_chrX_100964708_100995831 | 100972833 | G | GGGCGGGG others(807): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02615.hp1 HG02965.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0158 a0001c0001t0002g0023 a0001c0001t0002g0159 others(1): Show |
5 | 280 | 0.0179 | 814 | c.-14 others(829): Show |
ARL13A | ENSG00000174225.15 | transcript | ENST00000450049.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ARL13A_chrX_100964708_100995831 | 100972833 | G | GGGCGGGG others(807): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01257.hp1 HG01361.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0177 a0001c0001t0002g0011 a0001c0001t0002g0172 others(3): Show |
8 | 280 | 0.0286 | 814 | c.-14 others(829): Show |
ARL13A | ENSG00000174225.15 | transcript | ENST00000450049.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ARL13A_chrX_100964708_100995831 | 100972833 | G | GGGCGGGG others(807): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0178 | 1 | 280 | 0.0036 | 814 | c.-14 others(829): Show |
ARL13A | ENSG00000174225.15 | transcript | ENST00000450049.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ARL13A_chrX_100964708_100995831 | 100972833 | G | GGGCGGGG others(807): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG01081.hp2 others(14): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0002a0003c0004t0002 | a0001c0001t0002g0022 a0001c0001t0002g0151 a0001c0001t0002g0152 others(13): Show |
17 | 280 | 0.0607 | 814 | c.-14 others(829): Show |
ARL13A | ENSG00000174225.15 | transcript | ENST00000450049.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ARL13A_chrX_100964708_100995831 | 100972833 | G | GGGCGGGG others(807): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02280.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0026 a0001c0001t0001g0027 others(9): Show |
17 | 280 | 0.0607 | 814 | c.-14 others(829): Show |
ARL13A | ENSG00000174225.15 | transcript | ENST00000450049.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ARL13A_chrX_100964708_100995831 | 100972833 | G | GGGCGGGG others(807): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0033 | 1 | 280 | 0.0036 | 814 | c.-14 others(829): Show |
ARL13A | ENSG00000174225.15 | transcript | ENST00000450049.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ARL13A_chrX_100964708_100995831 | 100972833 | G | GGGCGGGG others(807): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00639.hp1 HG00733.hp2 others(18): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0012 a0002c0002t0001g0024 a0002c0002t0001g0030 others(15): Show |
21 | 280 | 0.0750 | 814 | c.-14 others(829): Show |
ARL13A | ENSG00000174225.15 | transcript | ENST00000450049.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ARL13A_chrX_100964708_100995831 | 100972833 | G | GGGCGGGG others(807): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0200 | 1 | 280 | 0.0036 | 814 | c.-14 others(829): Show |
ARL13A | ENSG00000174225.15 | transcript | ENST00000450049.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ARL13A_chrX_100964708_100995831 | 100972833 | G | GGGCGGGG others(807): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0174 | 1 | 280 | 0.0036 | 814 | c.-14 others(829): Show |
ARL13A | ENSG00000174225.15 | transcript | ENST00000450049.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1435232 | A | AGCGGAGG others(807): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0268 | 1 | 360 | 0.0028 | 814 | c.92- others(827): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 410797 | C | CGGATCCT others(807): Show |
upstream_gene_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0002 | a0001c0002t0019 | a0001c0002t0019g0026 | 1 | 322 | 0.0031 | 814 | c.-18 others(825): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1651 | chr19 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 411082 | C | CCTGCTGG others(807): Show |
upstream_gene_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0135 | a0001c0001t0135g0108 | 1 | 322 | 0.0031 | 814 | c.-21 others(825): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1936 | chr19 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 411301 | G | GCCCCTGC others(807): Show |
upstream_gene_variant | MODIFIER | NA19090.hp1 | a0002 | a0002c0003 | a0002c0003t0008 | a0002c0003t0008g0115 | 1 | 322 | 0.0031 | 814 | c.-23 others(825): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 2155 | chr19 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 411304 | T | TCTGCTGG others(807): Show |
upstream_gene_variant | MODIFIER | NA19000.hp1 | a0009 | a0009c0009 | a0009c0009t0006 | a0009c0009t0006g0150 | 1 | 322 | 0.0031 | 814 | c.-23 others(825): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 2158 | chr19 | TogoVar | |||||||
CACNA1B_chr9_137872782_138129619 | 138018008 | T | TCAGGTGC others(807): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0174 | 1 | 248 | 0.0040 | 814 | c.226 others(833): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CACNA1B_chr9_137872782_138129619 | 138019044 | C | CCAGGTGC others(807): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0005 | a0005c0014 | a0005c0014t0006 | a0005c0014t0006g0142 | 1 | 248 | 0.0040 | 814 | c.226 others(833): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CCDC77_chr12_396644_447642 | 420937 | A | ATACACAC others(807): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG01192.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0153 a0001c0001t0001g0255 a0001c0001t0001g0262 others(4): Show |
7 | 432 | 0.0162 | 814 | c.413 others(831): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | chr12 | TogoVar | |||||||
CCDC77_chr12_396644_447642 | 420937 | A | ATACACAC others(807): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 432 | 0.0023 | 814 | c.413 others(831): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | chr12 | TogoVar | |||||||
CD5_chr11_61097489_61132852 | 61100753 | T | TCACACAC others(807): Show |
upstream_gene_variant | MODIFIER | NA19030.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0131 | 1 | 244 | 0.0041 | 814 | c.-18 others(825): Show |
CD5 | ENSG00000110448.11 | transcript | ENST00000347785.8 | protein_coding | 1735 | chr11 | TogoVar | |||||||
CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(807): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0030 | 1 | 336 | 0.0030 | 814 | c.248 others(831): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(807): Show |
intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0181 | 1 | 336 | 0.0030 | 814 | c.248 others(831): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20337583 | T | TGGATAGA others(807): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0005 | 1 | 236 | 0.0042 | 814 | c.342 others(833): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(807): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0212 | 1 | 270 | 0.0037 | 814 | c.162 others(835): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CUL4A_chr13_113204613_113272108 | 113232154 | G | GTCACCAC others(807): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0288 | 1 | 396 | 0.0025 | 814 | c.513 others(831): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | chr13 | TogoVar | |||||||
DISP3_chr1_11474155_11542551 | 11522563 | G | GCCCAGCC others(807): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0003 | a0003c0003 | a0003c0003t0024 | a0003c0003t0024g0031 | 1 | 358 | 0.0028 | 814 | c.236 others(833): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DISP3_chr1_11474155_11542551 | 11522716 | G | GACCCAGC others(807): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0059 | 1 | 358 | 0.0028 | 814 | c.236 others(833): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | chr1 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 894912 | T | TGGGGGGA others(807): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0026 | 1 | 40 | 0.0250 | 814 | c.19- others(831): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89634611 | C | CCCTTCCT others(807): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 250 | 0.0040 | 814 | c.105 others(831): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
F13A1_chr6_6139084_6325662 | 6261821 | T | TGTGCTCC others(807): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02132.hp2 NA18952.hp2 others(14): Show |
a0001a0002a0007others(1): Show | a0001c0001a0002c0002a0007c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(3): Show | a0001c0001t0001g0172 a0001c0001t0001g0196 a0001c0001t0001g0227 others(14): Show |
17 | 292 | 0.0582 | 814 | c.571 others(831): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 4/14 | chr6 | TogoVar | |||||||
F13A1_chr6_6139084_6325662 | 6261821 | T | TGTGCTCC others(807): Show |
intron_variant | MODIFIER | HG03831.hp2 HG03942.hp1 |
a0001a0007 | a0001c0001a0007c0022 | a0001c0001t0002a0007c0022t0002 | a0001c0001t0002g0158 a0007c0022t0002g0127 |
2 | 292 | 0.0069 | 814 | c.571 others(831): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 4/14 | chr6 | TogoVar |