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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MRPL28_chr16_361969_375538 | 370388 | C | CCCCTACC others(848): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0162 | 1 | 246 | 0.0041 | 855 | c.-8+ others(868): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
MSR1_chr8_16102881_16197651 | 16189475 | A | ATATAAAA others(848): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0003 | a0003c0004 | a0003c0004t0010 | a0003c0004t0010g0062 | 1 | 263 | 0.0038 | 855 | c.-5+ others(870): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195776010 | C | CCATACCT others(848): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0006 | a0006c0008 | a0006c0008t0002 | a0006c0008t0002g0169 | 1 | 230 | 0.0043 | 855 | c.129 others(876): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195777000 | C | CCATACCT others(848): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0049 | a0049c0159 | a0049c0159t0008 | a0049c0159t0008g0220 | 1 | 209 | 0.0048 | 855 | c.129 others(876): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136528393 | G | GGGGGGTG others(848): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0097 | 1 | 139 | 0.0072 | 855 | c.141 others(872): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136528393 | G | GGGGGGTG others(848): Show |
intron_variant | MODIFIER | HG03209.hp1 NA18952.hp1 NA18980.hp2 |
a0001 | a0001c0001a0001c0011 | a0001c0001t0004a0001c0011t0001 | a0001c0001t0004g0048 a0001c0011t0001g0265 a0001c0011t0001g0272 |
3 | 141 | 0.0213 | 855 | c.141 others(872): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136528393 | G | GGGGGGTG others(848): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0215 | 1 | 139 | 0.0072 | 855 | c.141 others(872): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NPHP4_chr1_5857811_5997425 | 5977904 | A | AGAAGAGA others(848): Show |
intron_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0177 | 1 | 4 | 0.2500 | 855 | c.279 others(870): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar | |||||||
NPRL3_chr16_80386_143673 | 81723 | G | GCCTCCTG others(848): Show |
downstream_gene_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0235 | 1 | 340 | 0.0029 | 855 | c.*49 others(866): Show |
NPRL3 | ENSG00000103148.17 | transcript | ENST00000611875.5 | protein_coding | 3662 | chr16 | TogoVar | |||||||
NPRL3_chr16_80386_143673 | 82065 | G | GCCTCCTG others(848): Show |
downstream_gene_variant | MODIFIER | HG02486.hp1 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0028 | 1 | 216 | 0.0046 | 855 | c.*46 others(866): Show |
NPRL3 | ENSG00000103148.17 | transcript | ENST00000611875.5 | protein_coding | 3320 | chr16 | TogoVar | |||||||
PARVB_chr22_44019302_44177939 | 44112686 | G | GGATACAT others(848): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0108 | 1 | 237 | 0.0042 | 855 | c.274 others(872): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45909762 | A | ACCCCCCC others(848): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0219 | 1 | 266 | 0.0038 | 855 | c.471 others(870): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PGAP6_chr16_365788_386978 | 370388 | C | CCCCTACC others(848): Show |
downstream_gene_variant | MODIFIER | HG03239.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 226 | 0.0044 | 855 | c.*15 others(866): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 399 | chr16 | TogoVar | |||||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(848): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01261.hp2 HG01516.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0024others(1): Show | a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0010g0187 others(2): Show |
5 | 23 | 0.2174 | 855 | c.24+ others(872): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(848): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01358.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0176 a0001c0001t0004g0184 |
2 | 20 | 0.1000 | 855 | c.24+ others(872): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
RASGEF1C_chr5_180095795_180214211 | 180134844 | C | CCATCCAC others(848): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0148 | 1 | 2 | 0.5000 | 855 | c.438 others(872): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 4/13 | chr5 | TogoVar | |||||||
RASGEF1C_chr5_180095795_180214211 | 180134844 | C | CCATCCAC others(848): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02723.hp1 HG02895.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0008a0001c0002t0012 | a0001c0002t0008g0342 a0001c0002t0008g0343 a0001c0002t0008g0360 others(2): Show |
5 | 6 | 0.8333 | 855 | c.438 others(872): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 4/13 | chr5 | TogoVar | |||||||
RGS12_chr4_3288021_3444913 | 3341539 | G | GGGGGAGG others(848): Show |
intron_variant | MODIFIER | HG01243.hp1 HG03579.hp2 |
a0004 | a0004c0008a0004c0019 | a0004c0008t0001a0004c0019t0001 | a0004c0008t0001g0015 a0004c0019t0001g0014 |
2 | 299 | 0.0067 | 855 | c.188 others(874): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ROBO2_chr3_77035099_77654964 | 77323064 | T | TATATTAT others(848): Show |
intron_variant | MODIFIER | HG03195.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0014 | a0001c0001t0003g0048 a0001c0001t0014g0082 |
2 | 131 | 0.0153 | 855 | c.389 others(876): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 218142 | T | TCCAAGGC others(848): Show |
intron_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0014 | 1 | 82 | 0.0122 | 855 | c.727 others(872): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 8/9 | chr17 | TogoVar | |||||||
RUFY4_chr2_218064253_218095584 | 218082955 | C | CTGTGTGT others(848): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02559.hp1 HG02630.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0002c0004t0001 | a0001c0001t0002g0156 a0002c0004t0001g0013 a0002c0004t0001g0097 others(2): Show |
8 | 180 | 0.0444 | 855 | c.135 others(872): Show |
RUFY4 | ENSG00000188282.13 | transcript | ENST00000697321.1 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RUFY4_chr2_218064253_218095584 | 218082955 | C | CTGTGTGT others(848): Show |
intron_variant | MODIFIER | NA18953.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 173 | 0.0058 | 855 | c.135 others(872): Show |
RUFY4 | ENSG00000188282.13 | transcript | ENST00000697321.1 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RUFY4_chr2_218064253_218095584 | 218082955 | C | CTGTGTGT others(848): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0175 | 1 | 173 | 0.0058 | 855 | c.135 others(872): Show |
RUFY4 | ENSG00000188282.13 | transcript | ENST00000697321.1 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RUFY4_chr2_218064253_218095584 | 218082955 | C | CTGTGTGT others(848): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0008 | a0008c0020 | a0008c0020t0003 | a0008c0020t0003g0104 | 1 | 173 | 0.0058 | 855 | c.135 others(872): Show |
RUFY4 | ENSG00000188282.13 | transcript | ENST00000697321.1 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RUFY4_chr2_218064253_218095584 | 218082955 | C | CTGTGTGT others(848): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0115 | 1 | 173 | 0.0058 | 855 | c.135 others(872): Show |
RUFY4 | ENSG00000188282.13 | transcript | ENST00000697321.1 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RUFY4_chr2_218064253_218095584 | 218082955 | C | CTGTGTGT others(848): Show |
intron_variant | MODIFIER | HG02056.hp1 HG02155.hp1 NA18954.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0031 a0001c0002t0001g0086 |
3 | 175 | 0.0171 | 855 | c.135 others(872): Show |
RUFY4 | ENSG00000188282.13 | transcript | ENST00000697321.1 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1284171 | G | GGGGGGTT others(848): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0027 | 1 | 164 | 0.0061 | 855 | c.464 others(868): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31431993 | A | ATAGGGTG others(848): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0254 | 1 | 347 | 0.0029 | 855 | c.101 others(872): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432011 | A | AGAGGGTG others(848): Show |
intron_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0238 | 1 | 337 | 0.0030 | 855 | c.101 others(872): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | chr1 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1739952 | C | CAGGGAGT others(848): Show |
upstream_gene_variant | MODIFIER | HG01069.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 434 | 0.0023 | 855 | c.-29 others(866): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 2918 | chr17 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1739952 | C | CAGGGAGT others(848): Show |
upstream_gene_variant | MODIFIER | HG02257.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0033 | 1 | 434 | 0.0023 | 855 | c.-29 others(866): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 2918 | chr17 | TogoVar | |||||||
SLC6A11_chr3_10811228_10945714 | 10873402 | A | ATCCTATC others(848): Show |
intron_variant | MODIFIER | HG02056.hp2 NA19067.hp2 |
a0001 | a0001c0008 | a0001c0008t0011 | a0001c0008t0011g0101 a0001c0008t0011g0102 |
2 | 356 | 0.0056 | 855 | c.757 others(872): Show |
SLC6A11 | ENSG00000132164.10 | transcript | ENST00000254488.7 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SLC6A11_chr3_10811228_10945714 | 10873402 | A | ATCCTATC others(848): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0007 | a0001c0007t0004 | a0001c0007t0004g0300 | 1 | 355 | 0.0028 | 855 | c.757 others(872): Show |
SLC6A11 | ENSG00000132164.10 | transcript | ENST00000254488.7 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SLC6A11_chr3_10811228_10945714 | 10873407 | A | ATCCTATC others(848): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0008 | a0001c0008t0011 | a0001c0008t0011g0099 | 1 | 359 | 0.0028 | 855 | c.757 others(872): Show |
SLC6A11 | ENSG00000132164.10 | transcript | ENST00000254488.7 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 246071948 | T | TTCCTGTT others(848): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0133 | 1 | 130 | 0.0077 | 855 | c.532 others(876): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246072284 | A | ATGCTTCC others(848): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0120 | 1 | 149 | 0.0067 | 855 | c.532 others(876): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SYNDIG1_chr20_24464629_24671616 | 24530039 | A | AATACCCC others(848): Show |
intron_variant | MODIFIER | NA18947.hp1 NA19010.hp2 NA19088.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0103 a0001c0001t0001g0111 a0001c0001t0012g0112 |
3 | 123 | 0.0244 | 855 | c.-78 others(874): Show |
SYNDIG1 | ENSG00000101463.6 | transcript | ENST00000376862.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48620629 | C | CCCATCCT others(848): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0045 | 1 | 190 | 0.0053 | 855 | c.113 others(874): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TCF3_chr19_1604292_1657615 | 1629112 | A | AGGCGGGA others(848): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0118 | 1 | 220 | 0.0045 | 855 | c.299 others(872): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
TNFRSF18_chr1_1198508_1211592 | 1201778 | G | GCCAGTAC others(848): Show |
downstream_gene_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 214 | 0.0047 | 855 | c.*20 others(866): Show |
TNFRSF18 | ENSG00000186891.14 | transcript | ENST00000379268.7 | protein_coding | 1729 | chr1 | TogoVar | |||||||
TP53AIP1_chr11_128930370_128947871 | 128930878 | G | GGGGTTAG others(848): Show |
downstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 371 | 0.0027 | 855 | c.*47 others(866): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4491 | chr11 | TogoVar | |||||||
WDR81_chr17_1719704_1743585 | 1739952 | C | CAGGGAGT others(848): Show |
downstream_gene_variant | MODIFIER | HG01069.hp2 | a0003 | a0003c0011 | a0003c0011t0003 | a0003c0011t0003g0002 | 1 | 418 | 0.0024 | 855 | c.*22 others(866): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 1368 | chr17 | TogoVar | |||||||
WDR81_chr17_1719704_1743585 | 1739952 | C | CAGGGAGT others(848): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 HG02257.hp1 HG02896.hp1 others(1): Show |
a0001 | a0001c0016 | a0001c0016t0003 | a0001c0016t0003g0013 | 4 | 421 | 0.0095 | 855 | c.*22 others(866): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 1368 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1173286 | C | CCAACACA others(849): Show |
intron_variant | MODIFIER | HG01361.hp2 HG01496.hp1 HG03669.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0083 | a0001c0001t0008g0024 a0001c0001t0008g0025 a0001c0001t0083g0331 |
3 | 274 | 0.0109 | 856 | c.61+ others(871): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100011336 | G | GGGAAGGA others(849): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0002 | a0002c0001 | a0002c0001t0054 | a0002c0001t0054g0087 | 1 | 204 | 0.0049 | 856 | c.259 others(877): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 18/21 | chr15 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 835489 | G | GCCCCCAC others(849): Show |
downstream_gene_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 382 | 0.0026 | 856 | c.*36 others(867): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3472 | chr19 | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1185577 | T | TGGCGGGT others(849): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0092 | a0001c0092t0009 | a0001c0092t0009g0311 | 1 | 194 | 0.0052 | 856 | c.300 others(873): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CD2AP_chr6_47472789_47632263 | 47505627 | C | CCCCCCCC others(849): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02809.hp2 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0026a0001c0001t0050a0001c0001t0052 | a0001c0001t0026g0210 a0001c0001t0050g0211 a0001c0001t0052g0288 |
3 | 251 | 0.0120 | 856 | c.165 others(873): Show |
CD2AP | ENSG00000198087.7 | transcript | ENST00000359314.5 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CD2AP_chr6_47472789_47632263 | 47505627 | C | CCCCCCCC others(849): Show |
intron_variant | MODIFIER | HG03486.hp1 NA19043.hp2 |
a0003 | a0003c0004 | a0003c0004t0020 | a0003c0004t0020g0311 a0003c0004t0020g0312 |
2 | 250 | 0.0080 | 856 | c.165 others(873): Show |
CD2AP | ENSG00000198087.7 | transcript | ENST00000359314.5 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CD2AP_chr6_47472789_47632263 | 47505627 | C | CCCCCCCC others(849): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0005 | a0005c0010 | a0005c0010t0020 | a0005c0010t0020g0313 | 1 | 249 | 0.0040 | 856 | c.165 others(873): Show |
CD2AP | ENSG00000198087.7 | transcript | ENST00000359314.5 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |