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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TTC16_chr9_127711079_127736590 | 127720831 | T | TTCCCCCT others(1071): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0138 | 1 | 334 | 0.0030 | 1078 | c.657 others(1093): Show |
TTC16 | ENSG00000167094.16 | transcript | ENST00000373289.4 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
U2AF2_chr19_55650035_55679716 | 55670466 | C | CCGTGCAC others(1071): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0261 | 1 | 394 | 0.0025 | 1078 | c.129 others(1095): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
U2AF2_chr19_55650035_55679716 | 55670515 | C | CCCGTGCA others(1071): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0262 | 1 | 394 | 0.0025 | 1078 | c.129 others(1095): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
VIPR2_chr7_159023175_159149867 | 159129910 | T | TGGGGGGT others(1071): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0084 | 1 | 336 | 0.0030 | 1078 | c.151 others(1097): Show |
VIPR2 | ENSG00000106018.14 | transcript | ENST00000262178.7 | protein_coding | 2/12 | chr7 | TogoVar | ||||||
ZDHHC20_chr13_21367571_21464303 | 21377660 | A | ACGTGACC others(1071): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0062 | 1 | 302 | 0.0033 | 1078 | c.*40 others(1095): Show |
ZDHHC20 | ENSG00000180776.17 | transcript | ENST00000400590.8 | protein_coding | 12/12 | chr13 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43524176 | A | AAACAGTC others(1072): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0011 | a0011c0029 | a0011c0029t0002 | a0011c0029t0002g0276 | 1 | 306 | 0.0033 | 1079 | c.613 others(1096): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 3/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43524176 | A | AAACAGTC others(1072): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01106.hp1 HG01192.hp1 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0151a0001c0003t0001g0183a0001c0003t0001g0185others(4): Show | 7 | 306 | 0.0229 | 1079 | c.613 others(1096): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 3/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43524176 | A | AAACAGTC others(1072): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02622.hp1 HG02723.hp2 others(8): Show |
a0001a0012 | a0001c0003a0012c0024 | a0001c0003t0001a0001c0003t0004a0012c0024t0001 | a0001c0003t0001g0008a0001c0003t0001g0010a0001c0003t0001g0180others(8): Show | 11 | 306 | 0.0360 | 1079 | c.613 others(1096): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 3/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43524176 | A | AAACAGTC others(1072): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 306 | 0.0033 | 1079 | c.613 others(1096): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 3/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43524176 | A | AAACAGTC others(1072): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00597.hp1 others(90): Show |
a0001a0002a0003others(7): Show | a0001c0002a0001c0003a0001c0005others(13): Show | a0001c0002t0001a0001c0002t0006a0001c0003t0001others(15): Show | a0001c0002t0001g0011a0001c0002t0001g0090a0001c0002t0001g0091others(90): Show | 93 | 306 | 0.3039 | 1079 | c.613 others(1096): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 3/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43524176 | A | AAACAGTC others(1072): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0089 | 1 | 306 | 0.0033 | 1079 | c.613 others(1096): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 3/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43524176 | A | AAACAGTC others(1072): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0116 | 1 | 306 | 0.0033 | 1079 | c.613 others(1096): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 3/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43524176 | A | AAACAGTC others(1072): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01358.hp2 HG01433.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078a0001c0001t0001g0079a0001c0001t0001g0080others(1): Show | 4 | 306 | 0.0131 | 1079 | c.613 others(1096): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 3/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43524176 | A | AAACAGTC others(1072): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(124): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0002a0001c0009others(6): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(7): Show | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(124): Show | 127 | 306 | 0.4150 | 1079 | c.613 others(1096): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 3/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43524176 | A | AAACAGTC others(1072): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02630.hp2 HG02896.hp1 others(2): Show |
a0001a0014 | a0001c0001a0014c0019 | a0001c0001t0003a0014c0019t0003 | a0001c0001t0003g0002a0001c0001t0003g0003a0001c0001t0003g0004others(2): Show | 5 | 306 | 0.0163 | 1079 | c.613 others(1096): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 3/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43524176 | A | AAACAGTC others(1072): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 306 | 0.0033 | 1079 | c.613 others(1096): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 3/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43524176 | A | AAACAGTC others(1072): Show |
intron_variant | MODIFIER | NA18968.hp1 | a0018 | a0018c0016 | a0018c0016t0001 | a0018c0016t0001g0007 | 1 | 306 | 0.0033 | 1079 | c.613 others(1096): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 3/38 | chr12 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACTATA others(1072): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0090 | 1 | 182 | 0.0055 | 1079 | c.505 others(1098): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7864069 | C | CCATTCCC others(1072): Show |
intron_variant | MODIFIER | HG02523.hp2 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0027 | a0001c0001t0001g0054a0001c0001t0027g0072 | 2 | 318 | 0.0063 | 1079 | c.225 others(1096): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7864069 | C | CCATTCCC others(1072): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0009 | a0001c0009t0042 | a0001c0009t0042g0229 | 1 | 318 | 0.0031 | 1079 | c.225 others(1096): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | ||||||
CALN1_chr7_71774491_72417338 | 72114242 | T | TGGGAAGG others(1072): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0025 | 1 | 142 | 0.0070 | 1079 | c.245 others(1096): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20320483 | A | ATATTATA others(1072): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0023 | 1 | 236 | 0.0042 | 1079 | c.342 others(1100): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(1072): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0162 | 1 | 320 | 0.0031 | 1079 | c.380 others(1096): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1072): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0084 | a0084c0043 | a0084c0043t0001 | a0084c0043t0001g0073 | 1 | 252 | 0.0040 | 1079 | c.118 others(1098): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438441 | A | AGGAGGAG others(1072): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0086 | a0086c0045 | a0086c0045t0001 | a0086c0045t0001g0109 | 1 | 252 | 0.0040 | 1079 | c.118 others(1098): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89634612 | C | CCTTCCTT others(1072): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0024 | 1 | 250 | 0.0040 | 1079 | c.105 others(1096): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DTNB_chr2_25372243_25678577 | 25399659 | A | AGATACTT others(1072): Show |
intron_variant | MODIFIER | HG02886.hp2 HG02922.hp1 HG02970.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0009a0001c0001t0001g0032a0001c0001t0001g0048others(3): Show | 6 | 168 | 0.0357 | 1079 | c.157 others(1100): Show |
DTNB | ENSG00000138101.20 | transcript | ENST00000406818.8 | protein_coding | 16/20 | chr2 | TogoVar | ||||||
DTNB_chr2_25372243_25678577 | 25399659 | A | AGATACTT others(1072): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00438.hp1 others(75): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(75): Show | 78 | 168 | 0.4643 | 1079 | c.157 others(1100): Show |
DTNB | ENSG00000138101.20 | transcript | ENST00000406818.8 | protein_coding | 16/20 | chr2 | TogoVar | ||||||
EEF1A2_chr20_63483014_63504083 | 63486870 | C | CCTGCATC others(1072): Show |
downstream_gene_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0028 | 1 | 374 | 0.0027 | 1079 | c.*14 others(1090): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1143 | chr20 | TogoVar | ||||||
FBXL14_chr12_1560993_1599581 | 1574458 | C | CGTGTGGG others(1072): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0150 | 1 | 418 | 0.0024 | 1079 | c.119 others(1098): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167997496 | A | ATCTGCAG others(1072): Show |
upstream_gene_variant | MODIFIER | NA18955.hp2 | a0015 | a0015c0025 | a0015c0025t0001 | a0015c0025t0001g0229 | 1 | 375 | 0.0027 | 1079 | c.-19 others(1090): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 174 | chr6 | TogoVar | ||||||
LDLRAD3_chr11_35939062_36237136 | 36055116 | A | AGTTGGAT others(1072): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 236 | 0.0042 | 1079 | c.193 others(1098): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | ||||||
LDLRAD3_chr11_35939062_36237136 | 36055118 | A | AGTTGGAT others(1072): Show |
intron_variant | MODIFIER | HG02055.hp2 HG06807.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0001 | a0001c0001t0004g0016a0001c0002t0001g0061 | 2 | 236 | 0.0085 | 1079 | c.193 others(1098): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | ||||||
LEO1_chr15_51933025_51976778 | 51972555 | C | CGCTCACG others(1072): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 HG03579.hp1 NA19240.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0283a0001c0001t0001g0284a0001c0001t0001g0285others(1): Show | 4 | 388 | 0.0103 | 1079 | c.-81 others(1088): Show |
LEO1 | ENSG00000166477.13 | transcript | ENST00000299601.10 | protein_coding | 778 | chr15 | TogoVar | ||||||
LEO1_chr15_51933025_51976778 | 51972555 | C | CGCTCACG others(1072): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 HG01106.hp1 HG01496.hp1 others(39): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0001a0003c0007t0001 | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0034others(31): Show | 42 | 388 | 0.1083 | 1079 | c.-81 others(1088): Show |
LEO1 | ENSG00000166477.13 | transcript | ENST00000299601.10 | protein_coding | 778 | chr15 | TogoVar | ||||||
LEO1_chr15_51933025_51976778 | 51972555 | C | CGCTCACG others(1072): Show |
upstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 388 | 0.0026 | 1079 | c.-81 others(1088): Show |
LEO1 | ENSG00000166477.13 | transcript | ENST00000299601.10 | protein_coding | 778 | chr15 | TogoVar | ||||||
LEO1_chr15_51933025_51976778 | 51972555 | C | CGCTCACG others(1072): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 HG01257.hp2 HG02056.hp1 others(20): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0037a0001c0002t0001g0287a0001c0002t0001g0288others(20): Show | 23 | 388 | 0.0593 | 1079 | c.-81 others(1088): Show |
LEO1 | ENSG00000166477.13 | transcript | ENST00000299601.10 | protein_coding | 778 | chr15 | TogoVar | ||||||
MOCS1_chr6_39899170_39939462 | 39926744 | G | GGAAGGAG others(1072): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 272 | 0.0037 | 1079 | c.250 others(1094): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
PKHD1_chr6_51610299_52092613 | 51982182 | A | AGGTGGGG others(1072): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0083 | a0001c0083t0001 | a0001c0083t0001g0125 | 1 | 134 | 0.0075 | 1079 | c.575 others(1100): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | ||||||
RASGEF1C_chr5_180095795_180214211 | 180134844 | C | CCTCTCAC others(1072): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0002 | a0001c0002t0018 | a0001c0002t0018g0060 | 1 | 370 | 0.0027 | 1079 | c.438 others(1096): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 4/13 | chr5 | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92547356 | T | TATTATAA others(1072): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0019 | a0019c0042 | a0019c0042t0001 | a0019c0042t0001g0135 | 1 | 334 | 0.0030 | 1079 | c.45- others(1094): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
SNRNP35_chr12_123453139_123471936 | 123453160 | A | ATATATAT others(1072): Show |
upstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 186 | 0.0054 | 1079 | c.-50 others(1090): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4978 | chr12 | TogoVar | ||||||
TCF3_chr19_1604292_1657615 | 1628666 | A | AGGGGGTG others(1072): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0002 | a0002c0001 | a0002c0001t0054 | a0002c0001t0054g0157 | 1 | 352 | 0.0028 | 1079 | c.299 others(1096): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
TCF3_chr19_1604292_1657615 | 1628699 | A | ACGGGGAT others(1072): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0005 | a0001c0005t0009 | a0001c0005t0009g0018 | 1 | 352 | 0.0028 | 1079 | c.299 others(1096): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
TNFRSF10B_chr8_23015133_23074031 | 23047234 | G | ATAATCCC others(1072): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0021 | 1 | 384 | 0.0026 | 1079 | c.145 others(1096): Show |
TNFRSF10B | ENSG00000120889.13 | transcript | ENST00000276431.9 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168975252 | T | TAAATATA others(1073): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0144 | 1 | 306 | 0.0033 | 1080 | c.130 others(1099): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168975252 | T | TAAATATA others(1073): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0022 | a0001c0022t0001 | a0001c0022t0001g0020 | 1 | 306 | 0.0033 | 1080 | c.130 others(1099): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1288845 | T | TCCGTCCC others(1073): Show |
downstream_gene_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0088 | 1 | 295 | 0.0034 | 1080 | c.*47 others(1091): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3545 | chr1 | TogoVar | ||||||
ADARB1_chr21_45069580_45231560 | 45224494 | G | GGCAGGGC others(1073): Show |
3_prime_UTR_variant | MODIFIER | HG02074.hp2 HG02135.hp2 NA18961.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0053a0001c0001t0111 | a0001c0001t0010g0285a0001c0001t0010g0286a0001c0001t0010g0287others(3): Show | 6 | 350 | 0.0171 | 1080 | c.*22 others(1091): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 11/11 | 2299 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||
ADARB1_chr21_45069580_45231560 | 45224512 | A | AGGAACTG others(1073): Show |
3_prime_UTR_variant | MODIFIER | HG01361.hp2 HG02698.hp1 HG03490.hp2 others(1): Show |
a0001a0004 | a0001c0001a0004c0011 | a0001c0001t0057a0001c0001t0083a0001c0001t0084others(1): Show | a0001c0001t0057g0257a0001c0001t0083g0072a0001c0001t0084g0071others(1): Show | 4 | 350 | 0.0114 | 1080 | c.*23 others(1091): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 11/11 | 2342 | INFO_REALIGN_3_PRIME | chr21 | TogoVar |