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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CNTNAP2_chr7_146111801_148425998 | 148403073 | A | AAGAAATT others(2142): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0011 | 1 | 19 | 0.0526 | 2149 | c.371 others(2168): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2142): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0196 | 1 | 4 | 0.2500 | 2149 | c.972 others(2162): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2142): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0197 | 1 | 4 | 0.2500 | 2149 | c.972 others(2162): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2142): Show |
intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0204 | 1 | 4 | 0.2500 | 2149 | c.972 others(2162): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167997457 | G | GGGGGCGG others(2142): Show |
upstream_gene_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 | 1 | 357 | 0.0028 | 2149 | c.-20 others(2160): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 213 | chr6 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2142): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0006 | a0006c0048 | a0006c0048t0006 | a0006c0048t0006g0108 | 1 | 4 | 0.2500 | 2149 | c.515 others(2166): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | |||||||
PDGFA_chr7_492258_524846 | 494645 | G | GGGGGACG others(2142): Show |
downstream_gene_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0197 | 1 | 224 | 0.0045 | 2149 | c.*39 others(2160): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2612 | chr7 | TogoVar | |||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2142): Show |
intron_variant | MODIFIER | HG01496.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0021 a0001c0001t0011g0279 |
2 | 9 | 0.2222 | 2149 | c.-56 others(2168): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PRPF31_chr19_54110754_54136713 | 54133829 | C | CTTCCTCC others(2142): Show |
downstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 73 | 0.0137 | 2149 | c.*23 others(2160): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2117 | chr19 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATATT others(2142): Show |
upstream_gene_variant | MODIFIER | HG02300.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0003 | 1 | 8 | 0.1250 | 2149 | c.-20 others(2160): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATTTA others(2142): Show |
upstream_gene_variant | MODIFIER | HG01099.hp1 HG01978.hp2 HG02735.hp1 |
a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0003 | 3 | 10 | 0.3000 | 2149 | c.-20 others(2160): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATTTA others(2142): Show |
upstream_gene_variant | MODIFIER | HG01175.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0031 | 1 | 8 | 0.1250 | 2149 | c.-20 others(2160): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
USP43_chr17_9640517_9734687 | 9733994 | G | GCTCCGCC others(2142): Show |
downstream_gene_variant | MODIFIER | NA18961.hp2 NA19056.hp2 NA19066.hp1 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0133 a0001c0002t0001g0154 a0001c0003t0001g0075 |
3 | 328 | 0.0091 | 2149 | c.*50 others(2160): Show |
USP43 | ENSG00000154914.17 | transcript | ENST00000285199.12 | protein_coding | 4308 | chr17 | TogoVar | |||||||
ZNF114_chr19_48265081_48292608 | 48282698 | T | TTATTTTA others(2142): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 426 | 0.0023 | 2149 | c.136 others(2164): Show |
ZNF114 | ENSG00000178150.10 | transcript | ENST00000595607.6 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ZNF114_chr19_48265081_48292608 | 48282698 | T | TTATTTTA others(2142): Show |
intron_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 426 | 0.0023 | 2149 | c.136 others(2164): Show |
ZNF114 | ENSG00000178150.10 | transcript | ENST00000595607.6 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113419002 | T | TCCTTCCT others(2143): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 82 | 0.0122 | 2150 | c.106 others(2169): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2143): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0014 | a0014c0033 | a0014c0033t0001 | a0014c0033t0001g0255 | 1 | 50 | 0.0200 | 2150 | c.147 others(2167): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112872978 | G | GCAGTGTG others(2143): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0044 | a0001c0044t0047 | a0001c0044t0047g0134 | 1 | 51 | 0.0196 | 2150 | c.305 others(2167): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 148403073 | A | AAGAAATT others(2143): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0007 | 1 | 19 | 0.0526 | 2150 | c.371 others(2169): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 148403073 | A | AAGAAATT others(2143): Show |
intron_variant | MODIFIER | HG03098.hp1 HG03139.hp1 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0001 | a0001c0001t0001g0003 a0001c0008t0001g0025 |
2 | 20 | 0.1000 | 2150 | c.371 others(2169): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084560 | A | AGTAGTGG others(2143): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0242 | 1 | 158 | 0.0063 | 2150 | c.126 others(2167): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2143): Show |
intron_variant | MODIFIER | HG00741.hp2 NA19065.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0190 a0001c0001t0002g0201 |
2 | 5 | 0.4000 | 2150 | c.972 others(2163): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KCNN3_chr1_154692455_154875281 | 154713957 | C | CATGGTGT others(2143): Show |
intron_variant | MODIFIER | HG02630.hp1 HG03486.hp2 |
a0002a0004 | a0002c0010a0004c0014 | a0002c0010t0109a0004c0014t0086 | a0002c0010t0109g0132 a0004c0014t0086g0049 |
2 | 52 | 0.0385 | 2150 | c.183 others(2167): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
PIP5K1C_chr19_3625183_3705468 | 3649163 | A | ATGCCCAC others(2143): Show |
intron_variant | MODIFIER | HG01981.hp2 NA19065.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0015 | a0001c0001t0002g0262 a0001c0001t0015g0260 |
2 | 251 | 0.0080 | 2150 | c.112 others(2167): Show |
PIP5K1C | ENSG00000186111.11 | transcript | ENST00000335312.8 | protein_coding | 8/17 | chr19 | TogoVar | |||||||
PPP1R14C_chr6_150138044_150255392 | 150167969 | T | TCTCCCCT others(2143): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0192 | 1 | 228 | 0.0044 | 2150 | c.306 others(2169): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3976544 | A | AGGGTCCC others(2143): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0087 | a0001c0087t0009 | a0001c0087t0009g0054 | 1 | 94 | 0.0106 | 2150 | c.199 others(2169): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1346218 | T | TTTTCCCC others(2143): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0015 | a0015c0025 | a0015c0025t0001 | a0015c0025t0001g0034 | 1 | 188 | 0.0053 | 2150 | c.148 others(2171): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCATCACC others(2143): Show |
downstream_gene_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 50 | 0.0200 | 2150 | c.*24 others(2161): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | |||||||
ZNF114_chr19_48265081_48292608 | 48282698 | T | TTATTTTA others(2143): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0365 | 1 | 426 | 0.0023 | 2150 | c.136 others(2165): Show |
ZNF114 | ENSG00000178150.10 | transcript | ENST00000595607.6 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113419002 | T | TCCTTCCT others(2144): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0222 | 1 | 82 | 0.0122 | 2151 | c.106 others(2170): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2144): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 50 | 0.0200 | 2151 | c.147 others(2168): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNR2_chr1_23865515_23918362 | 23884345 | T | TTAGAGGC others(2144): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02109.hp2 HG02451.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0010a0001c0001t0027a0002c0002t0014others(2): Show | a0001c0001t0010g0223 a0001c0001t0027g0221 a0001c0001t0027g0222 others(4): Show |
7 | 131 | 0.0534 | 2151 | c.-45 others(2168): Show |
CNR2 | ENSG00000188822.8 | transcript | ENST00000374472.5 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
CNR2_chr1_23865515_23918362 | 23884345 | T | TTAGAGGC others(2144): Show |
intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02886.hp1 others(4): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0005a0001c0001t0008a0001c0001t0044others(2): Show | a0001c0001t0005g0001 a0001c0001t0008g0215 a0001c0001t0008g0216 others(4): Show |
7 | 131 | 0.0534 | 2151 | c.-45 others(2168): Show |
CNR2 | ENSG00000188822.8 | transcript | ENST00000374472.5 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
CNR2_chr1_23865515_23918362 | 23884345 | T | TTAGAGGC others(2144): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0255 | 1 | 125 | 0.0080 | 2151 | c.-45 others(2168): Show |
CNR2 | ENSG00000188822.8 | transcript | ENST00000374472.5 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
CNR2_chr1_23865515_23918362 | 23884345 | T | TTAGAGGC others(2144): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(104): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(25): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0013 others(104): Show |
107 | 231 | 0.4632 | 2151 | c.-45 others(2168): Show |
CNR2 | ENSG00000188822.8 | transcript | ENST00000374472.5 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
CNR2_chr1_23865515_23918362 | 23884345 | T | TTAGAGGC others(2144): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0197 | 1 | 125 | 0.0080 | 2151 | c.-45 others(2168): Show |
CNR2 | ENSG00000188822.8 | transcript | ENST00000374472.5 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
CNR2_chr1_23865515_23918362 | 23884345 | T | TTAGAGGC others(2144): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02895.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0050a0001c0001t0071 | a0001c0001t0008g0005 a0001c0001t0050g0228 a0001c0001t0071g0227 |
3 | 127 | 0.0236 | 2151 | c.-45 others(2168): Show |
CNR2 | ENSG00000188822.8 | transcript | ENST00000374472.5 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
CNR2_chr1_23865515_23918362 | 23884345 | T | TTAGAGGC others(2144): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01106.hp1 HG01109.hp2 others(8): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0006a0001c0001t0028others(6): Show | a0001c0001t0001g0257 a0001c0001t0006g0256 a0001c0001t0028g0259 others(8): Show |
11 | 135 | 0.0815 | 2151 | c.-45 others(2168): Show |
CNR2 | ENSG00000188822.8 | transcript | ENST00000374472.5 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
CNR2_chr1_23865515_23918362 | 23884345 | T | TTAGAGGC others(2144): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0230 | 1 | 125 | 0.0080 | 2151 | c.-45 others(2168): Show |
CNR2 | ENSG00000188822.8 | transcript | ENST00000374472.5 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
CNR2_chr1_23865515_23918362 | 23884345 | T | TTAGAGGC others(2144): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0002 | a0002c0002 | a0002c0002t0063 | a0002c0002t0063g0258 | 1 | 125 | 0.0080 | 2151 | c.-45 others(2168): Show |
CNR2 | ENSG00000188822.8 | transcript | ENST00000374472.5 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
CNR2_chr1_23865515_23918362 | 23884345 | T | TTAGAGGC others(2144): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0083 | 1 | 125 | 0.0080 | 2151 | c.-45 others(2168): Show |
CNR2 | ENSG00000188822.8 | transcript | ENST00000374472.5 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
CNR2_chr1_23865515_23918362 | 23884345 | T | TTAGAGGC others(2144): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 125 | 0.0080 | 2151 | c.-45 others(2168): Show |
CNR2 | ENSG00000188822.8 | transcript | ENST00000374472.5 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
CNTNAP2_chr7_146111801_148425998 | 148403073 | A | AAGAAATT others(2144): Show |
intron_variant | MODIFIER | HG02451.hp2 HG03225.hp2 |
a0001 | a0001c0001a0001c0018 | a0001c0001t0002a0001c0018t0002 | a0001c0001t0002g0006 a0001c0018t0002g0012 |
2 | 20 | 0.1000 | 2151 | c.371 others(2170): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 148403073 | A | AAGAAATT others(2144): Show |
intron_variant | MODIFIER | HG02486.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0018 a0001c0001t0007g0020 |
2 | 20 | 0.1000 | 2151 | c.371 others(2170): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 148403073 | A | AAGAAATT others(2144): Show |
intron_variant | MODIFIER | HG03098.hp2 NA19030.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0038 a0001c0002t0001g0021 |
2 | 20 | 0.1000 | 2151 | c.371 others(2170): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(2144): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0002 | a0002c0056 | a0002c0056t0001 | a0002c0056t0001g0107 | 1 | 2 | 0.5000 | 2151 | c.126 others(2168): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706449 | C | CATAGATA others(2144): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0244 | 1 | 232 | 0.0043 | 2151 | c.228 others(2168): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706449 | C | CATAGATA others(2144): Show |
upstream_gene_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0040 | a0001c0040t0003 | a0001c0040t0003g0168 | 1 | 288 | 0.0035 | 2151 | c.-49 others(2162): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4751 | chr4 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137355478 | A | AGGAGGAA others(2144): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0017 | a0017c0015 | a0017c0015t0001 | a0017c0015t0001g0073 | 1 | 70 | 0.0143 | 2151 | c.758 others(2166): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | |||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2144): Show |
intron_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0160 | 1 | 4 | 0.2500 | 2151 | c.972 others(2164): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |