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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RPH3AL_chr17_207389_357807 | 304998 | A | AGGGGGAC others(826): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0074 | 1 | 133 | 0.0075 | 833 | c.351 others(852): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
SCARA5_chr8_27864883_27997673 | 27918987 | G | GGAAGGAA others(826): Show |
intron_variant | MODIFIER | HG01891.hp2 NA20129.hp1 |
a0002 | a0002c0017 | a0002c0017t0020 | a0002c0017t0020g0032a0002c0017t0020g0033 | 2 | 314 | 0.0064 | 833 | c.916 others(850): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | ||||||
SEL1L2_chr20_13844247_13995614 | 13934358 | C | CATATATA others(826): Show |
intron_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023 | 1 | 324 | 0.0031 | 833 | c.115 others(850): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
SHROOM2_chrX_9781429_9954443 | 9792159 | T | TAGAATAG others(826): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0061 | 1 | 256 | 0.0039 | 833 | c.165 others(850): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
SLC9A3_chr5_465456_529449 | 487547 | C | CACCGCAC others(826): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0183 | 1 | 218 | 0.0046 | 833 | c.675 others(848): Show |
SLC9A3 | ENSG00000066230.12 | transcript | ENST00000264938.8 | protein_coding | 3/16 | chr5 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157827544 | T | TTATAGTT others(826): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 | 1 | 302 | 0.0033 | 833 | c.12+ others(848): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(826): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0062 | 1 | 322 | 0.0031 | 833 | c.597 others(850): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | ||||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(826): Show |
intron_variant | MODIFIER | HG02040.hp2 NA18944.hp2 NA18945.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0039a0001c0001t0002g0067a0001c0001t0002g0070others(1): Show | 4 | 322 | 0.0124 | 833 | c.597 others(850): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | ||||||
SYK_chr9_90796819_90903549 | 90884880 | T | TGTGTATG others(826): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0178 | 1 | 376 | 0.0027 | 833 | c.158 others(852): Show |
SYK | ENSG00000165025.15 | transcript | ENST00000375754.9 | protein_coding | 11/13 | chr9 | TogoVar | ||||||
TMPRSS9_chr19_2355265_2431261 | 2418721 | T | TCCTTCCC others(826): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 114 | 0.0088 | 833 | c.215 others(850): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
VCX2_chrX_8164944_8176267 | 8169240 | C | CCCTCCCT others(826): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0059 | 1 | 115 | 0.0087 | 833 | c.*79 others(842): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 703 | chrX | TogoVar | ||||||
VCX_chrX_7838171_7849143 | 7844325 | T | TGGTGTGT others(826): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0001 | 1 | 341 | 0.0029 | 833 | c.*30 others(842): Show |
VCX | ENSG00000182583.13 | transcript | ENST00000688183.1 | protein_coding | 183 | chrX | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1173269 | A | ACATCACC others(827): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0095 | 1 | 337 | 0.0030 | 834 | c.61+ others(849): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
AFF2_chrX_148495617_149005663 | 148581231 | T | TACGTGTA others(827): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0004 | a0001c0004t0113 | a0001c0004t0113g0159 | 1 | 169 | 0.0059 | 834 | c.48- others(851): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
AFF2_chrX_148495617_149005663 | 148581249 | C | CATATACG others(827): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0128 | 1 | 169 | 0.0059 | 834 | c.48- others(851): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ANKLE2_chr12_132720503_132766832 | 132759203 | C | CGCTGCGG others(827): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 350 | 0.0029 | 834 | c.181 others(851): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 1/12 | chr12 | TogoVar | ||||||
ANKRD11_chr16_89262630_89495561 | 89341900 | A | ACCCACAG others(827): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0121 | 1 | 310 | 0.0032 | 834 | c.-59 others(853): Show |
ANKRD11 | ENSG00000167522.17 | transcript | ENST00000301030.10 | protein_coding | 2/12 | chr16 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1833035 | G | GAGAGACA others(827): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0005 | a0001c0005t0016 | a0001c0005t0016g0101 | 1 | 363 | 0.0028 | 834 | c.-48 others(851): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
BIRC7_chr20_63230905_63245495 | 63235393 | T | TGGGGGAA others(827): Show |
upstream_gene_variant | MODIFIER | NA19075.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0037 | 1 | 300 | 0.0033 | 834 | c.-70 others(843): Show |
BIRC7 | ENSG00000101197.13 | transcript | ENST00000217169.8 | protein_coding | 511 | chr20 | TogoVar | ||||||
CCDC88C_chr14_91266323_91422820 | 91293498 | A | ACCCGCCA others(827): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 284 | 0.0035 | 834 | c.411 others(851): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(827): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0141 | 1 | 336 | 0.0030 | 834 | c.248 others(851): 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(827): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0013 | a0013c0018 | a0013c0018t0015 | a0013c0018t0015g0033 | 1 | 336 | 0.0030 | 834 | c.248 others(851): 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(827): Show |
intron_variant | MODIFIER | HG02559.hp2 NA18986.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0228a0001c0001t0009g0299 | 2 | 336 | 0.0060 | 834 | c.248 others(851): 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(827): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0280 | 1 | 336 | 0.0030 | 834 | c.248 others(851): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20337583 | T | TGGGTGGG others(827): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(41): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(11): Show | a0001c0001t0001g0203a0001c0001t0001g0208a0001c0001t0002g0063others(41): Show | 44 | 236 | 0.1864 | 834 | c.342 others(853): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
COL21A1_chr6_56051590_56252580 | 56098080 | A | AATATATA others(827): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0026 | 1 | 264 | 0.0038 | 834 | c.181 others(853): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 322177 | G | GGCGAGAG others(827): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0019 | 1 | 88 | 0.0114 | 834 | c.392 others(853): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 31/36 | chr10 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77252992 | C | CCACCACC others(827): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0318 | 1 | 366 | 0.0027 | 834 | c.666 others(851): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
GAPVD1_chr9_125256826_125372207 | 125265636 | C | CTCCTGAC others(827): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0269 | 1 | 340 | 0.0029 | 834 | c.-19 others(853): Show |
GAPVD1 | ENSG00000165219.23 | transcript | ENST00000297933.11 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
GET4_chr7_871554_901436 | 890279 | T | TGAGCGGG others(827): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0135 | 1 | 384 | 0.0026 | 834 | c.467 others(849): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GET4_chr7_871554_901436 | 890279 | T | TGAGCGGG others(827): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0145 | 1 | 384 | 0.0026 | 834 | c.467 others(849): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GET4_chr7_871554_901436 | 890279 | T | TGAGCGGG others(827): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0148 | 1 | 384 | 0.0026 | 834 | c.467 others(849): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GET4_chr7_871554_901436 | 890279 | T | TGAGCGGG others(827): Show |
intron_variant | MODIFIER | NA18939.hp2 NA19068.hp1 NA19079.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0142a0001c0002t0002g0149a0001c0002t0002g0153 | 3 | 384 | 0.0078 | 834 | c.467 others(849): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(827): Show |
upstream_gene_variant | MODIFIER | HG02074.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0206 | 1 | 323 | 0.0031 | 834 | c.-36 others(845): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(827): Show |
upstream_gene_variant | MODIFIER | NA20805.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 1 | 323 | 0.0031 | 834 | c.-36 others(845): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(827): Show |
upstream_gene_variant | MODIFIER | NA18972.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0197 | 1 | 323 | 0.0031 | 834 | c.-36 others(845): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(827): Show |
upstream_gene_variant | MODIFIER | HG03490.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0233 | 1 | 323 | 0.0031 | 834 | c.-36 others(845): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(827): Show |
upstream_gene_variant | MODIFIER | NA19057.hp2 | a0002 | a0002c0002 | a0002c0002t0040 | a0002c0002t0040g0198 | 1 | 323 | 0.0031 | 834 | c.-36 others(845): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(827): Show |
upstream_gene_variant | MODIFIER | HG02896.hp2 HG02897.hp2 |
a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0192a0002c0004t0002g0219 | 2 | 323 | 0.0062 | 834 | c.-36 others(845): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | ||||||
INS_chr11_2154779_2166209 | 2161948 | C | CACCCCTG others(827): Show |
upstream_gene_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 376 | 0.0027 | 834 | c.-79 others(843): Show |
INS | ENSG00000254647.7 | transcript | ENST00000381330.5 | protein_coding | 740 | chr11 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173149 | T | TCTCTCTC others(827): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0051 | 1 | 158 | 0.0063 | 834 | c.*11 others(855): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(827): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255 | 1 | 312 | 0.0032 | 834 | c.-41 others(849): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KDM2B_chr12_121424096_121586023 | 121514828 | C | CTCCCCAC others(827): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0204 | 1 | 270 | 0.0037 | 834 | c.104 others(853): Show |
KDM2B | ENSG00000089094.20 | transcript | ENST00000377071.9 | protein_coding | 9/22 | chr12 | TogoVar | ||||||
KDM2B_chr12_121424096_121586023 | 121514828 | C | CTCCCCAC others(827): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0197 | 1 | 270 | 0.0037 | 834 | c.104 others(853): Show |
KDM2B | ENSG00000089094.20 | transcript | ENST00000377071.9 | protein_coding | 9/22 | chr12 | TogoVar | ||||||
KRT82_chr12_52388931_52411335 | 52409039 | T | TCCTCTCC others(827): Show |
upstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0064 | 1 | 370 | 0.0027 | 834 | c.-27 others(845): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2705 | chr12 | TogoVar | ||||||
KRT82_chr12_52388931_52411335 | 52409039 | T | TCCTCTCC others(827): Show |
upstream_gene_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0063 | 1 | 370 | 0.0027 | 834 | c.-27 others(845): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2705 | chr12 | TogoVar | ||||||
LOC128462377_chr16_89312046_89423292 | 89341900 | A | ACCCACAG others(827): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0040 | 1 | 366 | 0.0027 | 834 | c.10- others(851): Show |
LOC128462377 | ENSG00000288715.2 | transcript | ENST00000711617.1 | protein_coding | 1/1 | chr16 | TogoVar | ||||||
LRP8_chr1_53237364_53333070 | 53283749 | C | CCACTTAC others(827): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0053 | 1 | 296 | 0.0034 | 834 | c.368 others(851): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | ||||||
LRP8_chr1_53237364_53333070 | 53283749 | C | CCACTTAC others(827): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0011 | a0001c0001t0004g0244a0001c0001t0011g0287 | 2 | 296 | 0.0068 | 834 | c.368 others(851): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | ||||||
LRP8_chr1_53237364_53333070 | 53283749 | C | CCACTTAC others(827): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01192.hp2 HG03098.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0012a0002c0002t0021a0002c0002t0049 | a0001c0001t0012g0016a0002c0002t0021g0052a0002c0002t0049g0054 | 3 | 296 | 0.0101 | 834 | c.368 others(851): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar |