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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TMPRSS9_chr19_2355265_2431261 | 2377639 | C | CTCTCCCC others(688): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0103 | 1 | 10 | 0.1000 | 695 | c.-25 others(714): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TMPRSS9_chr19_2355265_2431261 | 2377654 | T | TCCCCTCC others(688): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0048 | 1 | 112 | 0.0089 | 695 | c.-25 others(714): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238909034 | A | ATTTGTGG others(688): Show |
intron_variant | MODIFIER | HG03471.hp1 NA19043.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 a0001c0001t0001g0232 a0001c0001t0001g0235 |
3 | 12 | 0.2500 | 695 | c.*36 others(710): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238909034 | A | ATTTGTGG others(688): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00673.hp2 HG01169.hp2 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0170 a0001c0001t0002g0002 a0001c0001t0002g0020 others(27): Show |
31 | 40 | 0.7750 | 695 | c.*36 others(710): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VSIG4_chrX_66016738_66045080 | 66037121 | A | AATATATA others(688): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0018 | 2 | 13 | 0.1538 | 695 | c.55+ others(710): Show |
VSIG4 | ENSG00000155659.15 | transcript | ENST00000374737.9 | protein_coding | 1/7 | chrX | TogoVar | |||||||
ZBTB34_chr9_126855639_126890878 | 126876191 | C | CCCCTTCC others(688): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 237 | 0.0042 | 695 | c.-10 others(712): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168975506 | G | GATAAATA others(689): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0002 | a0002c0003 | a0002c0003t0014 | a0002c0003t0014g0080 | 1 | 253 | 0.0040 | 696 | c.130 others(715): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ACOT13_chr6_24662077_24710046 | 24683759 | T | TTCTAATT others(689): Show |
intron_variant | MODIFIER | HG01169.hp1 NA18954.hp1 |
a0001 | a0001c0002 | a0001c0002t0008a0001c0002t0016 | a0001c0002t0008g0263 a0001c0002t0016g0279 |
2 | 71 | 0.0282 | 696 | c.82- others(713): Show |
ACOT13 | ENSG00000112304.11 | transcript | ENST00000230048.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ACOT13_chr6_24662077_24710046 | 24683759 | T | TTCTACTT others(689): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 70 | 0.0143 | 696 | c.82- others(713): Show |
ACOT13 | ENSG00000112304.11 | transcript | ENST00000230048.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ARSH_chrX_3001546_3039111 | 3037064 | A | AATATTAT others(689): Show |
downstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0205 | 1 | 237 | 0.0042 | 696 | c.*36 others(707): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2954 | chrX | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25757870 | G | GACCACCT others(689): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0190 | 1 | 294 | 0.0034 | 696 | c.655 others(715): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758572 | C | CCACCTGC others(689): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 240 | 0.0042 | 696 | c.655 others(715): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
C20orf96_chr20_265863_295750 | 278938 | G | GGGAGGGG others(689): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0066 | 1 | 401 | 0.0025 | 696 | c.465 others(711): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 5/10 | chr20 | TogoVar | |||||||
C4orf19_chr4_37448925_37598510 | 37585301 | A | AGGAGGGG others(689): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0138 | 1 | 327 | 0.0031 | 696 | c.-22 others(713): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37585525 | T | TGAGGGAG others(689): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0235 | 1 | 261 | 0.0038 | 696 | c.-22 others(713): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CABLES1_chr18_23130485_23265470 | 23218324 | C | CCTCCCGC others(689): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0086 | 1 | 224 | 0.0045 | 696 | c.108 others(715): Show |
CABLES1 | ENSG00000134508.13 | transcript | ENST00000256925.12 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CABP5_chr19_48024383_48049079 | 48043533 | C | CCACCACC others(689): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02165.hp2 HG03710.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0037 a0001c0001t0002g0184 a0001c0001t0002g0185 others(7): Show |
11 | 161 | 0.0683 | 696 | c.63+ others(709): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88888557 | T | TGGGGTGG others(689): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0248 | 1 | 4 | 0.2500 | 696 | c.712 others(713): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
CCNL2_chr1_1380711_1404335 | 1382625 | A | ACCCCTTC others(689): Show |
downstream_gene_variant | MODIFIER | HG01261.hp1 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0204 | 1 | 2 | 0.5000 | 696 | c.*46 others(707): Show |
CCNL2 | ENSG00000221978.13 | transcript | ENST00000400809.8 | protein_coding | 3085 | chr1 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132821594 | C | CTGTGTGC others(689): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0052 | a0052c0037 | a0052c0037t0001 | a0052c0037t0001g0230 | 1 | 244 | 0.0041 | 696 | c.711 others(715): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | |||||||
CFAP47_chrX_35914734_36390317 | 35966332 | T | TGCTAATA others(689): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0023 | a0023c0055 | a0023c0055t0001 | a0023c0055t0001g0207 | 1 | 210 | 0.0048 | 696 | c.141 others(713): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 8/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(689): Show |
intron_variant | MODIFIER | NA18951.hp1 NA18984.hp1 NA18998.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 a0001c0001t0001g0176 a0001c0001t0001g0177 |
3 | 57 | 0.0526 | 696 | c.891 others(711): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
COL4A2_chr13_110302284_110518209 | 110385410 | T | TGTGGATA others(689): Show |
intron_variant | MODIFIER | NA18992.hp1 | a0004 | a0004c0058 | a0004c0058t0001 | a0004c0058t0001g0183 | 1 | 301 | 0.0033 | 696 | c.180 others(715): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110385410 | T | TGTGGATA others(689): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0025 | a0001c0025t0002 | a0001c0025t0002g0339 | 1 | 301 | 0.0033 | 696 | c.180 others(715): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110385410 | T | TGTGGATA others(689): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0002 | a0002c0107 | a0002c0107t0033 | a0002c0107t0033g0174 | 1 | 301 | 0.0033 | 696 | c.180 others(715): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110385546 | T | TTACAGTG others(689): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01258.hp2 |
a0003 | a0003c0044 | a0003c0044t0004 | a0003c0044t0004g0326 a0003c0044t0004g0327 |
2 | 135 | 0.0148 | 696 | c.180 others(715): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110385546 | T | TTACAGTG others(689): Show |
intron_variant | MODIFIER | NA18966.hp2 NA19005.hp2 NA19082.hp2 |
a0001a0002 | a0001c0005a0002c0017 | a0001c0005t0002a0002c0017t0002 | a0001c0005t0002g0322 a0002c0017t0002g0335 a0002c0017t0002g0370 |
3 | 136 | 0.0221 | 696 | c.180 others(715): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110385546 | T | TTACAGTG others(689): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02622.hp1 HG02809.hp1 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0022a0001c0024a0001c0098others(3): Show | a0001c0022t0014a0001c0024t0003a0001c0098t0005others(3): Show | a0001c0022t0014g0037 a0001c0024t0003g0087 a0001c0098t0005g0237 others(3): Show |
6 | 139 | 0.0432 | 696 | c.180 others(715): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110385546 | T | TTACAGTG others(689): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0080 | 1 | 134 | 0.0075 | 696 | c.180 others(715): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110385596 | A | ACAGTGCG others(689): Show |
intron_variant | MODIFIER | NA18987.hp2 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0053 | 1 | 153 | 0.0065 | 696 | c.180 others(715): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110385917 | G | GGATAGGC others(689): Show |
intron_variant | MODIFIER | NA18971.hp2 NA19079.hp1 |
a0001 | a0001c0005 | a0001c0005t0003a0001c0005t0009 | a0001c0005t0003g0052 a0001c0005t0009g0013 |
2 | 291 | 0.0069 | 696 | c.180 others(715): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110385930 | T | TTACAGTG others(689): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0003 | a0003c0112 | a0003c0112t0006 | a0003c0112t0006g0068 | 1 | 184 | 0.0054 | 696 | c.180 others(715): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110385930 | T | TTACAGTG others(689): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0342 | 1 | 184 | 0.0054 | 696 | c.180 others(715): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL9A3_chr20_62812050_62846159 | 62825130 | A | AGGGAGGG others(689): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0166 | 1 | 220 | 0.0045 | 696 | c.630 others(711): Show |
COL9A3 | ENSG00000092758.18 | transcript | ENST00000649368.1 | protein_coding | 12/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
COL9A3_chr20_62812050_62846159 | 62825130 | A | AGGGAGGG others(689): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0025 | a0025c0037 | a0025c0037t0001 | a0025c0037t0001g0124 | 1 | 220 | 0.0045 | 696 | c.630 others(711): Show |
COL9A3 | ENSG00000092758.18 | transcript | ENST00000649368.1 | protein_coding | 12/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
COL9A3_chr20_62812050_62846159 | 62825130 | A | AGGGAGGG others(689): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 220 | 0.0045 | 696 | c.630 others(711): Show |
COL9A3 | ENSG00000092758.18 | transcript | ENST00000649368.1 | protein_coding | 12/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
COMMD9_chr11_36267292_36294424 | 36287120 | T | TACAATGT others(689): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0258 | 1 | 348 | 0.0029 | 696 | c.51+ others(711): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
COMMD9_chr11_36267292_36294424 | 36287120 | T | TACAATGT others(689): Show |
intron_variant | MODIFIER | HG02148.hp2 HG02273.hp1 HG02293.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0016 | 4 | 351 | 0.0114 | 696 | c.51+ others(711): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4174757 | T | TGAGGAAG others(689): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0046 | a0001c0046t0073 | a0001c0046t0073g0091 | 1 | 16 | 0.0625 | 696 | c.416 others(717): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1317877 | G | GTGCGTGA others(689): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0002 | a0002c0001 | a0002c0001t0020 | a0002c0001t0020g0024 | 1 | 38 | 0.0263 | 696 | c.106 others(715): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438425 | A | AAGGAGGA others(689): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0010 | a0010c0207 | a0010c0207t0001 | a0010c0207t0001g0117 | 1 | 224 | 0.0045 | 696 | c.118 others(715): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
DPEP1_chr16_89608642_89643433 | 89619226 | T | TCCCCTCC others(689): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 68 | 0.0147 | 696 | c.-10 others(715): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89634545 | C | CCCCTTCC others(689): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0128 | 1 | 239 | 0.0042 | 696 | c.105 others(713): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DYSF_chr2_71448561_71691763 | 71618390 | T | TGTGTGTG others(689): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0064 | a0001c0064t0001 | a0001c0064t0001g0046 | 1 | 118 | 0.0085 | 696 | c.441 others(715): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 40/54 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DYSF_chr2_71461699_71691763 | 71618390 | T | TGTGTGTG others(689): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0067 | a0001c0067t0001 | a0001c0067t0001g0082 | 1 | 124 | 0.0081 | 696 | c.446 others(715): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EBF2_chr8_25836725_26050413 | 26005387 | A | ATATAATA others(689): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0194 | 1 | 92 | 0.0109 | 696 | c.551 others(715): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 6/15 | chr8 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 519116 | A | AAACCACC others(689): Show |
intron_variant | MODIFIER | HG03491.hp1 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0262 a0001c0001t0001g0263 |
2 | 176 | 0.0114 | 696 | c.238 others(717): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 519116 | A | AAACCACC others(689): Show |
intron_variant | MODIFIER | HG01255.hp2 NA19004.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0043 a0001c0003t0001g0062 |
2 | 176 | 0.0114 | 696 | c.238 others(717): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 519116 | A | AAACCACC others(689): Show |
intron_variant | MODIFIER | NA19072.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0256 | 1 | 175 | 0.0057 | 696 | c.238 others(717): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | |||||||
FBXO47_chr17_38931432_38972403 | 38946669 | T | TAAAAATA others(689): Show |
intron_variant | MODIFIER | NA19078.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0208 | 1 | 217 | 0.0046 | 696 | c.617 others(713): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 6/10 | chr17 | TogoVar |