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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TNFSF13B_chr13_108264718_108313478 | 108278578 | C | CTCCTCCT others(777): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0059 | 1 | 384 | 0.0026 | 784 | c.424 others(801): Show |
TNFSF13B | ENSG00000102524.12 | transcript | ENST00000375887.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
TNFSF13B_chr13_108264718_108313478 | 108278578 | C | CTCCTCCT others(777): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0044 | 1 | 384 | 0.0026 | 784 | c.424 others(801): Show |
TNFSF13B | ENSG00000102524.12 | transcript | ENST00000375887.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
TOLLIP_chr11_1269371_1314632 | 1287836 | C | CGCCGCAC others(777): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0120 | 1 | 348 | 0.0029 | 784 | c.519 others(799): Show |
TOLLIP | ENSG00000078902.16 | transcript | ENST00000317204.11 | protein_coding | 4/5 | chr11 | TogoVar | ||||||
TSHZ2_chr20_52967358_53500330 | 53204081 | T | TTATATCA others(777): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0086 | a0001c0001t0086g0125 | 1 | 174 | 0.0058 | 784 | c.41- others(801): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TWIST2_chr2_238843085_238915534 | 238870214 | C | CCACACAC others(777): Show |
intron_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 338 | 0.0030 | 784 | c.*35 others(803): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TWIST2_chr2_238843085_238915534 | 238870214 | C | CCACACAC others(777): Show |
intron_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 338 | 0.0030 | 784 | c.*35 others(803): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TXNDC16_chr14_52425596_52557505 | 52530465 | T | TAATAATA others(777): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 238 | 0.0042 | 784 | c.392 others(801): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | ||||||
USP12_chr13_27061156_27176811 | 27063935 | A | AGGAGAGG others(777): Show |
downstream_gene_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0086 | 1 | 167 | 0.0060 | 784 | c.*53 others(795): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2220 | chr13 | TogoVar | ||||||
USP2_chr11_119350215_119386690 | 119351510 | C | CCTCCTCT others(777): Show |
downstream_gene_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0062 | 1 | 202 | 0.0050 | 784 | c.*53 others(795): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3704 | chr11 | TogoVar | ||||||
VCX3B_chrX_8459830_8471510 | 8467304 | A | AGGGAGGG others(777): Show |
downstream_gene_variant | MODIFIER | HG04228.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0006 | 1 | 271 | 0.0037 | 784 | c.*92 others(793): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 795 | chrX | TogoVar | ||||||
ZBTB34_chr9_126855639_126890878 | 126876197 | T | TCCCCCTT others(777): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 246 | 0.0041 | 784 | c.-10 others(801): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar | ||||||
ZNF627_chr19_11592483_11624161 | 11613145 | C | CCCCTCCC others(777): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0046 | 1 | 322 | 0.0031 | 784 | c.4-1 others(797): Show |
ZNF627 | ENSG00000198551.10 | transcript | ENST00000361113.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ZNF627_chr19_11592483_11624161 | 11613145 | C | CCCTCCCC others(777): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0073 | 1 | 322 | 0.0031 | 784 | c.4-1 others(797): Show |
ZNF627 | ENSG00000198551.10 | transcript | ENST00000361113.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ZNF627_chr19_11592483_11624161 | 11613145 | C | CCCTCCCC others(777): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0035 | 1 | 322 | 0.0031 | 784 | c.4-1 others(797): Show |
ZNF627 | ENSG00000198551.10 | transcript | ENST00000361113.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AGPAT2_chr9_136668143_136692457 | 136675470 | C | CAGCAGGG others(778): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0096 | 1 | 374 | 0.0027 | 785 | c.589 others(800): Show |
AGPAT2 | ENSG00000169692.14 | transcript | ENST00000371696.7 | protein_coding | 4/5 | chr9 | TogoVar | ||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(778): Show |
intron_variant | MODIFIER | HG00597.hp2 HG03209.hp2 NA19004.hp1 |
a0001a0002 | a0001c0001a0001c0011a0002c0002 | a0001c0001t0005a0001c0011t0001a0002c0002t0005 | a0001c0001t0005g0207a0001c0011t0001g0056a0002c0002t0005g0024 | 3 | 238 | 0.0126 | 785 | c.787 others(800): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | ||||||
ARHGAP39_chr8_144524179_144690846 | 144687793 | A | ACCCCGTG others(778): Show |
upstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 246 | 0.0041 | 785 | c.-21 others(796): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1948 | chr8 | TogoVar | ||||||
C4orf50_chr4_5954375_6023431 | 6004599 | A | ATGATGGT others(778): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0004 | a0004c0003 | a0004c0003t0000 | a0004c0003t0000g0094 | 1 | 346 | 0.0029 | 785 | c.963 others(802): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 6940912 | A | AGGGGGTC others(778): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 58 | 0.0172 | 785 | c.234 others(806): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CDH3_chr16_68640310_68705292 | 68641956 | T | TTGCACTC others(778): Show |
upstream_gene_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0249 | 1 | 338 | 0.0030 | 785 | c.-34 others(796): Show |
CDH3 | ENSG00000062038.15 | transcript | ENST00000264012.9 | protein_coding | 3353 | chr16 | TogoVar | ||||||
CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(778): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0149 | 1 | 270 | 0.0037 | 785 | c.162 others(806): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(778): Show |
intron_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0160 | 1 | 270 | 0.0037 | 785 | c.162 others(806): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(778): Show |
intron_variant | MODIFIER | HG00544.hp2 NA19084.hp2 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0007 | a0001c0003t0001g0142a0001c0003t0007g0126 | 2 | 270 | 0.0074 | 785 | c.162 others(806): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
COG3_chr13_45459939_45541701 | 45485412 | A | ACCCCCCC others(778): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 342 | 0.0029 | 785 | c.844 others(802): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL18A1_chr21_45400165_45518720 | 45500533 | A | AGGGTGTG others(778): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02040.hp2 HG02165.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0006 | a0001c0001t0001g0103a0001c0001t0001g0234a0001c0001t0001g0273others(2): Show | 5 | 292 | 0.0171 | 785 | c.268 others(804): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL18A1_chr21_45400165_45518720 | 45500533 | A | AGGGTGTG others(778): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG01255.hp1 others(24): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(9): Show | a0001c0001t0001g0121a0001c0001t0001g0126a0001c0001t0001g0241others(24): Show | 27 | 292 | 0.0925 | 785 | c.268 others(804): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL5A1_chr9_134636803_134849843 | 134657126 | G | GGGGGTGG others(778): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02922.hp2 HG03041.hp1 |
a0001 | a0001c0016 | a0001c0016t0001a0001c0016t0012a0001c0016t0046 | a0001c0016t0001g0022a0001c0016t0012g0021a0001c0016t0046g0020 | 3 | 272 | 0.0110 | 785 | c.109 others(804): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DCDC2_chr6_24166755_24363059 | 24238175 | A | AGGGAGGG others(778): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0002 | a0002c0002 | a0002c0002t0015 | a0002c0002t0015g0106 | 1 | 216 | 0.0046 | 785 | c.923 others(804): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084560 | A | AGTAGTGG others(778): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0016 | a0001c0016t0009 | a0001c0016t0009g0282 | 1 | 298 | 0.0034 | 785 | c.126 others(802): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(778): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0032 | a0032c0041 | a0032c0041t0001 | a0032c0041t0001g0009 | 1 | 252 | 0.0040 | 785 | c.118 others(804): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 659660 | A | AGGGGGTG others(778): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0268 | 1 | 378 | 0.0027 | 785 | c.*49 others(796): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 4539 | chr8 | TogoVar | ||||||
FAM81A_chr15_59433186_59528555 | 59433245 | C | CAGGCGTT others(778): Show |
upstream_gene_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 374 | 0.0027 | 785 | c.-51 others(796): Show |
FAM81A | ENSG00000157470.12 | transcript | ENST00000288228.10 | protein_coding | 4940 | chr15 | TogoVar | ||||||
FBXO47_chr17_38931432_38972403 | 38946735 | T | TATATATG others(778): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 344 | 0.0029 | 785 | c.617 others(802): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 6/10 | chr17 | TogoVar | ||||||
FER_chr5_108742897_109201841 | 108930374 | C | CCCTCCCC others(778): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 138 | 0.0073 | 785 | c.123 others(806): Show |
FER | ENSG00000151422.14 | transcript | ENST00000281092.9 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
FLT3_chr13_27998274_28105576 | 27998945 | T | TTATATGC others(778): Show |
downstream_gene_variant | MODIFIER | NA19065.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0271 | 1 | 292 | 0.0034 | 785 | c.*51 others(796): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4328 | chr13 | TogoVar | ||||||
FLT3_chr13_27998274_28105576 | 27999085 | A | ATGTATAT others(778): Show |
downstream_gene_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 292 | 0.0034 | 785 | c.*49 others(796): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4188 | chr13 | TogoVar | ||||||
FMR1NB_chrX_147976337_148031665 | 147992458 | C | CGGGGGGG others(778): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0168 | 1 | 275 | 0.0036 | 785 | c.278 others(804): Show |
FMR1NB | ENSG00000176988.9 | transcript | ENST00000370467.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
FMR1NB_chrX_147976337_148031665 | 147992469 | C | CCCCCCCC others(778): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 275 | 0.0036 | 785 | c.278 others(804): Show |
FMR1NB | ENSG00000176988.9 | transcript | ENST00000370467.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GAL3ST2_chr2_241771822_241809287 | 241806277 | G | GCCCAGGG others(778): Show |
downstream_gene_variant | MODIFIER | NA20805.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0040 | 1 | 314 | 0.0032 | 785 | c.*21 others(796): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1991 | chr2 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322429 | T | TATATATA others(778): Show |
upstream_gene_variant | MODIFIER | HG01257.hp2 HG01258.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0028 | 2 | 323 | 0.0062 | 785 | c.-26 others(796): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2540 | chr21 | TogoVar | ||||||
LHFPL3_chr7_104323603_104913561 | 104824253 | A | ATATTATA others(778): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0059 | 1 | 86 | 0.0116 | 785 | c.683 others(804): Show |
LHFPL3 | ENSG00000187416.13 | transcript | ENST00000424859.7 | protein_coding | 2/2 | chr7 | TogoVar | ||||||
LHFPL3_chr7_104323603_104913561 | 104824253 | A | ATATTATA others(778): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0083 | 1 | 86 | 0.0116 | 785 | c.683 others(804): Show |
LHFPL3 | ENSG00000187416.13 | transcript | ENST00000424859.7 | protein_coding | 2/2 | chr7 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124507236 | G | GGTAGACA others(778): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 260 | 0.0039 | 785 | c.624 others(802): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LHPP_chr10_124456823_124619141 | 124507256 | G | GGGGGGTA others(778): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 260 | 0.0039 | 785 | c.624 others(802): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LRRIQ1_chr12_85031351_85250105 | 85112497 | T | TAAGAGTT others(778): Show |
intron_variant | MODIFIER | HG02897.hp2 HG03139.hp2 HG03209.hp1 |
a0001a0010 | a0001c0001a0010c0019 | a0001c0001t0001a0010c0019t0001 | a0001c0001t0001g0086a0001c0001t0001g0087a0010c0019t0001g0096 | 3 | 228 | 0.0132 | 785 | c.337 others(804): Show |
LRRIQ1 | ENSG00000133640.20 | transcript | ENST00000393217.7 | protein_coding | 15/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
LRRIQ1_chr12_85031351_85250105 | 85112497 | T | TAAGAGTT others(778): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0094 | 1 | 228 | 0.0044 | 785 | c.337 others(804): Show |
LRRIQ1 | ENSG00000133640.20 | transcript | ENST00000393217.7 | protein_coding | 15/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MROH1_chr8_144143016_144266926 | 144218788 | T | TCTGCTCT others(778): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0095 | 1 | 140 | 0.0071 | 785 | c.114 others(804): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
NRDC_chr1_51784210_51883727 | 51852550 | G | GTTTTAAA others(778): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0007 | 1 | 244 | 0.0041 | 785 | c.342 others(804): Show |
NRDC | ENSG00000078618.23 | transcript | ENST00000352171.12 | protein_coding | 1/30 | chr1 | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 54332334 | A | ATATTATT others(778): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0016 | 1 | 102 | 0.0098 | 785 | c.595 others(802): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 6/37 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54332334 | A | ATATTATT others(778): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0016 | 1 | 94 | 0.0106 | 785 | c.595 others(802): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 6/32 | chr10 | TogoVar |