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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
VPS16_chr20_2835745_2871732 | 2842844 | C | CGATAGAT others(161): Show |
intron_variant | MODIFIER | HG02071.hp2 HG03654.hp2 NA18966.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0009a0001c0002t0001g0077a0001c0002t0001g0087 | 4 | 408 | 0.0098 | 168 | c.53+ others(183): Show |
VPS16 | ENSG00000215305.10 | transcript | ENST00000380445.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
WDR87_chr19_37879823_37911594 | 37881038 | A | AATATATA others(161): Show |
downstream_gene_variant | MODIFIER | HG01255.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0173 | 1 | 330 | 0.0030 | 168 | c.*38 others(179): Show |
WDR87 | ENSG00000171804.11 | transcript | ENST00000447313.7 | protein_coding | 3784 | chr19 | TogoVar | ||||||
WDR87_chr19_37879823_37911594 | 37881038 | A | AATATATA others(161): Show |
downstream_gene_variant | MODIFIER | HG03239.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0004 | 1 | 330 | 0.0030 | 168 | c.*38 others(179): Show |
WDR87 | ENSG00000171804.11 | transcript | ENST00000447313.7 | protein_coding | 3784 | chr19 | TogoVar | ||||||
XRCC2_chr7_152639776_152681141 | 152674711 | A | ATTTTAAA others(161): Show |
intron_variant | MODIFIER | HG01074.hp2 HG02258.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0048a0001c0001t0049a0001c0001t0050 | a0001c0001t0048g0208a0001c0001t0049g0206a0001c0001t0050g0207 | 3 | 394 | 0.0076 | 168 | c.39+ others(183): Show |
XRCC2 | ENSG00000196584.4 | transcript | ENST00000359321.2 | protein_coding | 1/2 | chr7 | TogoVar | ||||||
YEATS2_chr3_183692797_183817624 | 183712214 | T | TTTATTTT others(161): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0079 | 1 | 310 | 0.0032 | 168 | c.-19 others(185): Show |
YEATS2 | ENSG00000163872.16 | transcript | ENST00000305135.10 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
YEATS2_chr3_183692797_183817624 | 183712214 | T | TTTATTTT others(161): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0141 | 1 | 310 | 0.0032 | 168 | c.-19 others(185): Show |
YEATS2 | ENSG00000163872.16 | transcript | ENST00000305135.10 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
YJU2B_chr19_13742895_13768289 | 13764287 | A | ACGTGGAA others(161): Show |
downstream_gene_variant | MODIFIER | HG01081.hp2 HG01934.hp1 HG02523.hp2 others(12): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0002a0001c0001t0001g0040a0001c0001t0001g0099others(11): Show | 15 | 432 | 0.0347 | 168 | c.*12 others(179): Show |
YJU2B | ENSG00000104957.14 | transcript | ENST00000221554.13 | protein_coding | 999 | chr19 | TogoVar | ||||||
ZAN_chr7_100728595_100802797 | 100783803 | C | CACACACA others(161): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00609.hp1 HG00639.hp2 others(24): Show |
a0002a0003a0004others(6): Show | a0002c0002a0003c0077a0004c0004others(7): Show | a0002c0002t0002a0003c0077t0001a0004c0004t0001others(7): Show | a0002c0002t0002g0001a0002c0002t0002g0012a0002c0002t0002g0034others(23): Show | 27 | 308 | 0.0877 | 168 | c.662 others(185): Show |
ZAN | ENSG00000146839.19 | transcript | ENST00000613979.5 | protein_coding | 35/47 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ZC3H12B_chrX_65029826_65512887 | 65450477 | G | GTATATAT others(161): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0117 | 1 | 165 | 0.0061 | 168 | c.-15 others(189): Show |
ZC3H12B | ENSG00000102053.13 | transcript | ENST00000338957.5 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ZC4H2_chrX_64910807_64981450 | 64954356 | T | TTATATAT others(161): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0016 | 1 | 208 | 0.0048 | 168 | c.53+ others(185): Show |
ZC4H2 | ENSG00000126970.17 | transcript | ENST00000374839.8 | protein_coding | 1/4 | chrX | TogoVar | ||||||
ZFPM1_chr16_88448280_88542031 | 88460982 | G | GGAGGGGC others(161): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0002 | a0002c0027 | a0002c0027t0006 | a0002c0027t0006g0109 | 1 | 318 | 0.0031 | 168 | c.40+ others(183): Show |
ZFPM1 | ENSG00000179588.9 | transcript | ENST00000319555.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ZFPM1_chr16_88448280_88542031 | 88460995 | G | GCCTGGTG others(161): Show |
intron_variant | MODIFIER | HG00738.hp1 HG00741.hp2 HG03669.hp2 |
a0000a0002a0039 | a0000c0035a0002c0010a0039c0057 | a0000c0035t0001a0002c0010t0001a0039c0057t0006 | a0000c0035t0001g0093a0002c0010t0001g0129a0039c0057t0006g0130 | 3 | 318 | 0.0094 | 168 | c.40+ others(183): Show |
ZFPM1 | ENSG00000179588.9 | transcript | ENST00000319555.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ZFPM1_chr16_88448280_88542031 | 88461004 | G | GGACCGAG others(161): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01099.hp1 HG01192.hp1 others(11): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0012a0001c0022others(5): Show | a0001c0001t0005a0001c0012t0005a0001c0022t0011others(9): Show | a0001c0001t0005g0312a0001c0012t0005g0311a0001c0022t0011g0280others(11): Show | 14 | 318 | 0.0440 | 168 | c.40+ others(183): Show |
ZFPM1 | ENSG00000179588.9 | transcript | ENST00000319555.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ZFPM1_chr16_88448280_88542031 | 88461040 | G | GAGGGGCG others(161): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0033 | 1 | 318 | 0.0031 | 168 | c.40+ others(183): Show |
ZFPM1 | ENSG00000179588.9 | transcript | ENST00000319555.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ZNF182_chrX_47969851_48008989 | 47971402 | T | TGTATACA others(161): Show |
downstream_gene_variant | MODIFIER | HG01099.hp1 HG01106.hp1 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0002a0001c0001t0005g0011 | 3 | 270 | 0.0111 | 168 | c.*47 others(179): Show |
ZNF182 | ENSG00000147118.12 | transcript | ENST00000376943.8 | protein_coding | 3448 | chrX | TogoVar | ||||||
ZNF182_chrX_47969851_48008989 | 47971480 | T | TGTATACG others(161): Show |
downstream_gene_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0022 | 1 | 270 | 0.0037 | 168 | c.*46 others(179): Show |
ZNF182 | ENSG00000147118.12 | transcript | ENST00000376943.8 | protein_coding | 3370 | chrX | TogoVar | ||||||
ZNF365_chr10_62369369_62407450 | 62369791 | T | TATATATG others(161): Show |
upstream_gene_variant | MODIFIER | HG01070.hp1 HG03516.hp1 |
a0003 | a0003c0003 | a0003c0003t0010 | a0003c0003t0010g0022 | 2 | 350 | 0.0057 | 168 | c.-46 others(179): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 4577 | chr10 | TogoVar | ||||||
ZNF385D_chr3_21407218_21756210 | 21424301 | T | TTATATAT others(161): Show |
intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0196 | 1 | 256 | 0.0039 | 168 | c.853 others(183): Show |
ZNF385D | ENSG00000151789.13 | transcript | ENST00000281523.8 | protein_coding | 6/7 | chr3 | TogoVar | ||||||
ZNF512B_chr20_63951704_63974930 | 63970945 | T | TCCTTTTC others(161): Show |
upstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0128 | 1 | 356 | 0.0028 | 168 | c.-11 others(179): Show |
ZNF512B | ENSG00000196700.9 | transcript | ENST00000369888.6 | protein_coding | 1016 | chr20 | TogoVar | ||||||
ZNF628_chr19_55471617_55489487 | 55472111 | G | GGAACCCT others(161): Show |
upstream_gene_variant | MODIFIER | HG02080.hp1 NA18944.hp1 NA19072.hp2 |
a0008a0018a0019 | a0008c0037a0018c0046a0019c0021 | a0008c0037t0001a0018c0046t0001a0019c0021t0001 | a0008c0037t0001g0022a0018c0046t0001g0009a0019c0021t0001g0002 | 3 | 422 | 0.0071 | 168 | c.-47 others(179): Show |
ZNF628 | ENSG00000197483.11 | transcript | ENST00000598519.2 | protein_coding | 4505 | chr19 | TogoVar | ||||||
ZNF628_chr19_55471617_55489487 | 55472255 | C | CAGGAAGG others(161): Show |
upstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 422 | 0.0024 | 168 | c.-46 others(179): Show |
ZNF628 | ENSG00000197483.11 | transcript | ENST00000598519.2 | protein_coding | 4361 | chr19 | TogoVar | ||||||
ZNF644_chr1_90910304_91027035 | 90950287 | A | AAAGAGAA others(161): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0069 | 1 | 314 | 0.0032 | 168 | c.45- others(183): Show |
ZNF644 | ENSG00000122482.22 | transcript | ENST00000337393.10 | protein_coding | 2/5 | chr1 | TogoVar | ||||||
ZNF676_chr19_22174089_22201951 | 22181015 | A | AAAAGCTT others(161): Show |
disruptive_inframe_insertion | MODERATE | NA19067.hp2 | a0009 | a0009c0014 | a0009c0014t0001 | a0009c0014t0001g0130 | 1 | 439 | 0.0023 | 168 | c.701 others(175): Show |
p.Phe others(181): Show |
ZNF676 | ENSG00000196109.9 | transcript | ENST00000397121.3 | protein_coding | 3/3 | 1019/2946 | 701/1767 | 234/588 | chr19 | TogoVar | ||
ZNF676_chr19_22174089_22201951 | 22181015 | A | AAAAGCTT others(161): Show |
disruptive_inframe_insertion | MODERATE | HG01099.hp2 | a0011 | a0011c0024 | a0011c0024t0002 | a0011c0024t0002g0242 | 1 | 439 | 0.0023 | 168 | c.701 others(175): Show |
p.Phe others(181): Show |
ZNF676 | ENSG00000196109.9 | transcript | ENST00000397121.3 | protein_coding | 3/3 | 1019/2946 | 701/1767 | 234/588 | chr19 | TogoVar | ||
ZNF708_chr19_21286160_21334410 | 21290583 | T | TAAAAATC others(161): Show |
downstream_gene_variant | MODIFIER | HG02886.hp2 | a0006 | a0006c0006 | a0006c0006t0007 | a0006c0006t0007g0299 | 1 | 346 | 0.0029 | 168 | c.*26 others(179): Show |
ZNF708 | ENSG00000182141.10 | transcript | ENST00000356929.3 | protein_coding | 576 | chr19 | TogoVar | ||||||
ZNF804B_chr7_88754700_89343528 | 89219901 | G | GTGTGTGC others(161): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0016 | a0016c0033 | a0016c0033t0001 | a0016c0033t0001g0003 | 1 | 166 | 0.0060 | 168 | c.249 others(185): Show |
ZNF804B | ENSG00000182348.7 | transcript | ENST00000333190.5 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ZNF804B_chr7_88754700_89343528 | 89219994 | T | TATATGCA others(161): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0003 | a0003c0005 | a0003c0005t0022 | a0003c0005t0022g0157 | 1 | 166 | 0.0060 | 168 | c.249 others(185): Show |
ZNF804B | ENSG00000182348.7 | transcript | ENST00000333190.5 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ZNF804B_chr7_88754700_89343528 | 89219994 | T | TATATGTA others(161): Show |
intron_variant | MODIFIER | NA18945.hp1 NA18968.hp2 NA18992.hp1 others(1): Show |
a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0011a0004c0006t0001g0012a0004c0006t0001g0039others(1): Show | 4 | 166 | 0.0241 | 168 | c.249 others(185): Show |
ZNF804B | ENSG00000182348.7 | transcript | ENST00000333190.5 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ZNF804B_chr7_88754700_89343528 | 89220002 | T | TACATATA others(161): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02451.hp2 HG02717.hp1 others(6): Show |
a0002a0004a0005others(1): Show | a0002c0002a0002c0022a0002c0034others(3): Show | a0002c0002t0001a0002c0022t0001a0002c0034t0001others(3): Show | a0002c0002t0001g0081a0002c0002t0001g0082a0002c0002t0001g0124others(6): Show | 9 | 166 | 0.0542 | 168 | c.249 others(185): Show |
ZNF804B | ENSG00000182348.7 | transcript | ENST00000333190.5 | protein_coding | 2/3 | chr7 | TogoVar | ||||||
ZNF804B_chr7_88754700_89343528 | 89220013 | G | GTGTGCAT others(161): Show |
intron_variant | MODIFIER | HG01346.hp2 HG02257.hp2 HG02602.hp1 others(2): Show |
a0001a0010 | a0001c0001a0001c0010a0010c0012 | a0001c0001t0002a0001c0010t0002a0010c0012t0001 | a0001c0001t0002g0080a0001c0001t0002g0164a0001c0010t0002g0026others(2): Show | 5 | 166 | 0.0301 | 168 | c.249 others(185): Show |
ZNF804B | ENSG00000182348.7 | transcript | ENST00000333190.5 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ZSWIM5_chr1_45011399_45211605 | 45044796 | T | TATATAAA others(161): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0115 | 1 | 234 | 0.0043 | 168 | c.143 others(187): Show |
ZSWIM5 | ENSG00000162415.7 | transcript | ENST00000359600.6 | protein_coding | 5/13 | chr1 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95126815 | C | CAAAATAT others(162): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0020 | 1 | 248 | 0.0040 | 169 | c.245 others(190): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 19/30 | chr13 | TogoVar | ||||||
ABLIM3_chr5_149136493_149265542 | 149169085 | A | ACCCCTCA others(162): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0154 | 1 | 258 | 0.0039 | 169 | c.14- others(186): Show |
ABLIM3 | ENSG00000173210.21 | transcript | ENST00000309868.12 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ABR_chr17_998519_1184981 | 1064003 | T | TTATGCAT others(162): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 337 | 0.0030 | 169 | c.118 others(188): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1064498 | G | GTTATGTG others(162): Show |
intron_variant | MODIFIER | HG01928.hp1 HG02647.hp2 |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0087 | a0001c0001t0018g0111a0001c0001t0087g0311 | 2 | 337 | 0.0059 | 169 | c.118 others(188): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1064797 | T | TTGTTATG others(162): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00642.hp2 HG01070.hp1 others(46): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0015 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0054a0001c0001t0001g0063a0001c0001t0001g0064others(46): Show | 49 | 337 | 0.1454 | 169 | c.118 others(188): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1064797 | T | TTGTTATG others(162): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02055.hp1 HG02970.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0009 | a0001c0001t0001g0224a0001c0001t0005g0296a0001c0001t0009g0032others(1): Show | 4 | 337 | 0.0119 | 169 | c.118 others(188): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1065218 | T | TAGACACT others(162): Show |
intron_variant | MODIFIER | NA19068.hp1 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0201a0001c0001t0010g0261 | 2 | 337 | 0.0059 | 169 | c.118 others(188): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1065218 | T | TAGACACT others(162): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00597.hp2 HG00609.hp1 others(97): Show |
a0001a0005 | a0001c0001a0001c0003a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(42): Show | a0001c0001t0001g0061a0001c0001t0001g0098a0001c0001t0001g0157others(97): Show | 100 | 337 | 0.2967 | 169 | c.118 others(188): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1065225 | T | TGTTATGT others(162): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 337 | 0.0030 | 169 | c.118 others(188): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1117961 | C | CCCAGCGT others(162): Show |
intron_variant | MODIFIER | HG02155.hp1 HG03710.hp2 NA18983.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0157a0001c0001t0002g0088a0001c0001t0006g0141others(2): Show | 5 | 337 | 0.0148 | 169 | c.246 others(186): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | ||||||
ACTRT3_chr3_169761921_169774561 | 169769250 | G | GCCCCACC others(162): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0046 | 1 | 418 | 0.0024 | 169 | c.200 others(182): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1/1 | chr3 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100011300 | G | GGGGAGGG others(162): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0003 | a0003c0013 | a0003c0013t0001 | a0003c0013t0001g0189 | 1 | 228 | 0.0044 | 169 | c.259 others(190): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 18/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100011336 | G | GGGAAGGA others(162): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0002 | a0002c0070 | a0002c0070t0067 | a0002c0070t0067g0164 | 1 | 228 | 0.0044 | 169 | c.259 others(190): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 18/21 | chr15 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1240206 | C | CCCTCCCG others(162): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0072 | 1 | 106 | 0.0094 | 169 | c.136 others(188): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133111675 | C | CACCACGG others(162): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0084 | 1 | 368 | 0.0027 | 169 | c.401 others(186): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | chr10 | TogoVar | ||||||
ADGRB3_chr6_68630282_69394506 | 69100857 | G | GGAAGGAA others(162): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 120 | 0.0083 | 169 | c.248 others(190): Show |
ADGRB3 | ENSG00000135298.15 | transcript | ENST00000370598.6 | protein_coding | 17/31 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ADGRE2_chr19_14727392_14783560 | 14774674 | T | TTTTCTTT others(162): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0118 | 1 | 218 | 0.0046 | 169 | c.32- others(182): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 2/20 | chr19 | TogoVar | ||||||
ADGRE2_chr19_14727392_14783560 | 14774674 | T | TTTTCTTT others(162): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0030 | 1 | 218 | 0.0046 | 169 | c.32- others(182): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 2/20 | chr19 | TogoVar | ||||||
AFDN_chr6_167821911_167977023 | 167976475 | G | GGGTCATT others(162): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(63): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0005others(2): Show | a0001c0002t0001a0001c0003t0001a0001c0005t0001others(3): Show | a0001c0002t0001g0117a0001c0003t0001g0007a0001c0003t0001g0008others(62): Show | 66 | 326 | 0.2025 | 169 | c.*65 others(180): Show |
AFDN | ENSG00000130396.22 | transcript | ENST00000683244.1 | protein_coding | 4453 | chr6 | TogoVar |