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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAMTS17_chr15_99966437_100346975 | 100011300 | G | GGGGAGGG others(1749): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0010 | a0001c0010t0020 | a0001c0010t0020g0018 | 1 | 25 | 0.0400 | 1756 | c.259 others(1777): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 18/21 | chr15 | TogoVar | |||||||
CCDC6_chr10_59783747_59911556 | 59882024 | C | CAGGGGGA others(1749): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0152 | 1 | 261 | 0.0038 | 1756 | c.303 others(1775): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
CFAP61_chr20_20047532_20365698 | 20200349 | C | CTGGTTTG others(1749): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0147 | 1 | 234 | 0.0043 | 1756 | c.193 others(1773): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 17/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CHM_chrX_85856180_86052558 | 85894956 | T | TGAAAACA others(1749): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0244 | 1 | 243 | 0.0041 | 1756 | c.141 others(1773): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 11/14 | chrX | TogoVar | |||||||
COL18A1_chr21_45400165_45518720 | 45500921 | T | TGTTGGGT others(1749): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0032 | a0001c0032t0002 | a0001c0032t0002g0077 | 1 | 236 | 0.0042 | 1756 | c.268 others(1775): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CYSLTR1_chrX_78266468_78332611 | 78269606 | A | AATACAGA others(1749): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 2 | 58 | 0.0345 | 1756 | c.*31 others(1767): Show |
CYSLTR1 | ENSG00000173198.6 | transcript | ENST00000373304.4 | protein_coding | 1861 | chrX | TogoVar | |||||||
DCLK1_chr13_35763652_36136382 | 35958279 | T | TTACTACT others(1749): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0019 | 1 | 137 | 0.0073 | 1756 | c.724 others(1775): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63450548 | A | ACTGCTGG others(1749): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0002 | a0002c0001 | a0002c0001t0028 | a0002c0001t0028g0202 | 1 | 5 | 0.2000 | 1756 | c.297 others(1773): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 1/16 | chr20 | TogoVar | |||||||
LGR6_chr1_202188799_202324761 | 202205211 | C | CACACACA others(1749): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 | 1 | 202 | 0.0050 | 1756 | c.212 others(1775): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364472 | T | TACACCCA others(1749): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0138 | 1 | 216 | 0.0046 | 1756 | c.129 others(1773): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MORN1_chr1_2316253_2396554 | 2325136 | C | CTTCCTTC others(1749): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 72 | 0.0139 | 1756 | c.125 others(1773): Show |
MORN1 | ENSG00000116151.14 | transcript | ENST00000378531.8 | protein_coding | 12/13 | chr1 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196811306 | T | TTCCCTCC others(1749): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 98 | 0.0102 | 1756 | c.773 others(1771): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168614347 | A | ACCTCTTC others(1749): Show |
intron_variant | MODIFIER | NA18945.hp1 NA20752.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0002 | a0001c0001t0004g0129 a0001c0002t0002g0015 |
2 | 115 | 0.0174 | 1756 | c.907 others(1773): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168614347 | A | ACCTCTTC others(1749): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG03209.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0141 a0001c0002t0002g0004 a0001c0002t0002g0036 |
3 | 116 | 0.0259 | 1756 | c.907 others(1773): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168614347 | A | ACCTCTTC others(1749): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 114 | 0.0088 | 1756 | c.907 others(1773): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45500921 | T | TGTTGGGT others(1750): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02630.hp1 HG02895.hp1 |
a0011a0012 | a0011c0099a0012c0037 | a0011c0099t0004a0012c0037t0009 | a0011c0099t0004g0199 a0012c0037t0009g0200 a0012c0037t0009g0201 |
3 | 238 | 0.0126 | 1757 | c.268 others(1776): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45500921 | T | TGTTGGGT others(1750): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0002 | a0002c0012 | a0002c0012t0004 | a0002c0012t0004g0029 | 1 | 236 | 0.0042 | 1757 | c.268 others(1776): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(1750): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 2 | 0.5000 | 1757 | c.44- others(1770): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DGKB_chr7_14140049_14907751 | 14471376 | T | TATATATG others(1750): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0073 | 1 | 117 | 0.0085 | 1757 | c.183 others(1776): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | |||||||
FMN2_chr1_240086883_240480187 | 240185033 | C | CCCCCTTC others(1750): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0017 | a0017c0070 | a0017c0070t0002 | a0017c0070t0002g0093 | 1 | 126 | 0.0079 | 1757 | c.193 others(1776): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586205 | G | GCGGAGGG others(1750): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0101 | 1 | 293 | 0.0034 | 1757 | c.157 others(1772): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(1750): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0064 | a0064c0091 | a0064c0091t0005 | a0064c0091t0005g0263 | 1 | 32 | 0.0313 | 1757 | c.218 others(1772): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCCATCTG others(1750): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0002 | a0002c0016 | a0002c0016t0001 | a0002c0016t0001g0180 | 1 | 12 | 0.0833 | 1757 | c.228 others(1774): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCCATCTG others(1750): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0003 | a0003c0001 | a0003c0001t0002 | a0003c0001t0002g0116 | 1 | 12 | 0.0833 | 1757 | c.228 others(1774): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCCATCTG others(1750): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0086 | 1 | 12 | 0.0833 | 1757 | c.228 others(1774): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATACATA others(1750): Show |
upstream_gene_variant | MODIFIER | HG02895.hp1 | a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0027 | 1 | 8 | 0.1250 | 1757 | c.-20 others(1768): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 492393 | T | TTCCCGGG others(1750): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0183 | 1 | 263 | 0.0038 | 1757 | c.126 others(1776): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | chr16 | TogoVar | |||||||
RIN3_chr14_92508781_92693994 | 92547347 | C | CTTTATTT others(1750): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0002 | a0002c0026 | a0002c0026t0001 | a0002c0026t0001g0145 | 1 | 126 | 0.0079 | 1757 | c.45- others(1772): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917306 | G | GTTCGGCT others(1750): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0119 | 1 | 289 | 0.0035 | 1757 | c.218 others(1774): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | chr12 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113424685 | T | TATCCACC others(1751): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0002 | a0002c0007 | a0002c0007t0094 | a0002c0007t0094g0008 | 1 | 7 | 0.1429 | 1758 | c.775 others(1773): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 5/7 | chr13 | TogoVar | |||||||
CCDC183_chr9_136791338_136812741 | 136803147 | T | TGGGGCCC others(1751): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 109 | 0.0092 | 1758 | c.666 others(1773): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CYSLTR1_chrX_78266468_78332611 | 78269606 | A | AATACAGA others(1751): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 HG02622.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 a0001c0001t0001g0036 |
2 | 58 | 0.0345 | 1758 | c.*31 others(1769): Show |
CYSLTR1 | ENSG00000173198.6 | transcript | ENST00000373304.4 | protein_coding | 1861 | chrX | TogoVar | |||||||
ENTREP2_chr15_29115252_29575979 | 29558678 | C | CCTCCCAC others(1751): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0009 | a0002c0009t0003 | a0002c0009t0003g0044 | 1 | 3 | 0.3333 | 1758 | c.219 others(1777): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586254 | C | CGGAGGGG others(1751): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0212 | 1 | 242 | 0.0041 | 1758 | c.157 others(1773): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | chr17 | TogoVar | |||||||
JAG2_chr14_105135995_105173776 | 105162664 | G | GCCCAGGG others(1751): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0231 | 1 | 361 | 0.0028 | 1758 | c.418 others(1775): Show |
JAG2 | ENSG00000184916.9 | transcript | ENST00000331782.8 | protein_coding | 2/25 | chr14 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132173086 | T | TCCCTCCC others(1751): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0037 | 1 | 17 | 0.0588 | 1758 | c.*11 others(1779): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167997208 | G | GGGGGCGG others(1751): Show |
upstream_gene_variant | MODIFIER | NA19004.hp1 | a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0345 | 1 | 304 | 0.0033 | 1758 | c.-22 others(1769): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 462 | chr6 | TogoVar | |||||||
OSBPL5_chr11_3082107_3170310 | 3097061 | A | AAGGGGGA others(1751): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0002 | a0001c0002t0020 | a0001c0002t0020g0184 | 1 | 2 | 0.5000 | 1758 | c.162 others(1777): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 14/21 | chr11 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(1751): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0125 | 1 | 34 | 0.0294 | 1758 | c.299 others(1773): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
RABL6_chr9_136802948_136846187 | 136803147 | T | TGGGGCCC others(1751): Show |
upstream_gene_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 93 | 0.0108 | 1758 | c.-50 others(1769): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4800 | chr9 | TogoVar | |||||||
SDK1_chr7_3296252_4274000 | 3977052 | A | ACAGAGGG others(1751): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0002 | a0002c0012 | a0002c0012t0016 | a0002c0012t0016g0002 | 1 | 51 | 0.0196 | 1758 | c.199 others(1777): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPAAR_chr9_35904490_35916686 | 35913493 | C | CTGTATGT others(1751): Show |
downstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0005 | 1 | 327 | 0.0031 | 1758 | c.*28 others(1769): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 1808 | chr9 | TogoVar | |||||||
BTNL9_chr5_181035266_181066521 | 181045891 | G | GACACCTC others(1752): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0002 | a0002c0010 | a0002c0010t0003 | a0002c0010t0003g0190 | 1 | 29 | 0.0345 | 1759 | c.109 others(1774): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BTNL9_chr5_181035266_181066521 | 181045891 | G | GACACCTC others(1752): Show |
intron_variant | MODIFIER | NA18960.hp2 NA18974.hp2 NA19079.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 a0001c0001t0001g0229 |
4 | 32 | 0.1250 | 1759 | c.109 others(1774): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45500921 | T | TGTTGGGT others(1752): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0210 | 1 | 236 | 0.0042 | 1759 | c.268 others(1778): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DGKB_chr7_14140049_14907751 | 14471369 | A | ACACACAT others(1752): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0002 | a0001c0002t0031 | a0001c0002t0031g0008 | 1 | 78 | 0.0128 | 1759 | c.183 others(1778): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | |||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCCATCTG others(1752): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0003 | a0003c0001 | a0003c0001t0001 | a0003c0001t0001g0048 | 1 | 12 | 0.0833 | 1759 | c.228 others(1776): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NFATC1_chr18_79390930_79534323 | 79532337 | C | CCCCCCGC others(1752): Show |
downstream_gene_variant | MODIFIER | HG00741.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0206 | 1 | 318 | 0.0031 | 1759 | c.*47 others(1770): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 3015 | chr18 | TogoVar | |||||||
OSBPL5_chr11_3082107_3170310 | 3097061 | A | AAGGGGGA others(1752): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0045 | 1 | 2 | 0.5000 | 1759 | c.162 others(1778): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 14/21 | chr11 | TogoVar | |||||||
SLC38A10_chr17_81239811_81300307 | 81249360 | G | GATGAAGG others(1752): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0007 | a0001c0007t0005 | a0001c0007t0005g0176 | 1 | 94 | 0.0106 | 1759 | c.206 others(1778): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar |