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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
VCX3B_chrX_8459830_8471510 | 8466117 | G | GAGGTGGA others(23): Show |
disruptive_inframe_insertion | MODERATE | NA19240.hp2 | a0040 | a0040c0029 | a0040c0029t0006 | a0040c0029t0006g0004 | 1 | 251 | 0.0040 | 30 | c.482 others(37): Show |
p.Glu others(43): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 3/3 | 790/1175 | 483/741 | 161/246 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
VCX3B_chrX_8459830_8471510 | 8466117 | G | GAGGTGGA others(23): Show |
conservative_inframe_insertion | MODERATE | HG02451.hp1 HG02622.hp1 NA18906.hp1 |
a0001 | a0001c0009 | a0001c0009t0002 | a0001c0009t0002g0001 a0001c0009t0002g0015 |
3 | 253 | 0.0119 | 30 | c.504 others(37): Show |
p.Ser others(43): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 3/3 | 812/1175 | 505/741 | 169/246 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
VCX3B_chrX_8459830_8471510 | 8466879 | A | AGGGAGGG others(23): Show |
downstream_gene_variant | MODIFIER | HG02451.hp2 HG02922.hp1 NA19240.hp1 |
a0014 | a0014c0012 | a0014c0012t0013 | a0014c0012t0013g0004 | 3 | 267 | 0.0112 | 30 | c.*49 others(39): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 370 | chrX | TogoVar | |||||||
VCX3B_chrX_8459830_8471510 | 8467117 | T | TGGTGTGT others(23): Show |
downstream_gene_variant | MODIFIER | NA19064.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 1 | 217 | 0.0046 | 30 | c.*73 others(39): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 608 | chrX | TogoVar | |||||||
VCX3B_chrX_8459830_8471510 | 8467180 | T | TGTGGGGA others(23): Show |
downstream_gene_variant | MODIFIER | HG03704.hp1 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0007 | 1 | 209 | 0.0048 | 30 | c.*79 others(39): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 671 | chrX | TogoVar | |||||||
VCX3B_chrX_8459830_8471510 | 8467232 | G | GGAGGTGT others(23): Show |
downstream_gene_variant | MODIFIER | NA19080.hp2 NA19087.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0007 | 2 | 266 | 0.0075 | 30 | c.*84 others(39): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 723 | chrX | TogoVar | |||||||
VCX3B_chrX_8459830_8471510 | 8467263 | T | TGGTGTGT others(23): Show |
downstream_gene_variant | MODIFIER | HG03942.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0007 | 1 | 224 | 0.0045 | 30 | c.*88 others(39): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 754 | chrX | TogoVar | |||||||
VCX3B_chrX_8459830_8471510 | 8467358 | T | TGTGTGGG others(23): Show |
downstream_gene_variant | MODIFIER | HG02809.hp2 HG04115.hp1 NA18957.hp2 others(1): Show |
a0015a0028a0031others(1): Show | a0015c0015a0028c0046a0031c0036others(1): Show | a0015c0015t0005a0028c0046t0020a0031c0036t0005others(1): Show | a0015c0015t0005g0004 a0028c0046t0020g0026 a0031c0036t0005g0004 others(1): Show |
4 | 151 | 0.0265 | 30 | c.*97 others(39): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 849 | chrX | TogoVar | |||||||
VCX_chrX_7838171_7849143 | 7843758 | A | AGAACCAC others(23): Show |
conservative_inframe_insertion | MODERATE | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 332 | 0.0030 | 30 | c.385 others(37): Show |
p.Gln others(13): Show |
VCX | ENSG00000182583.13 | transcript | ENST00000688183.1 | protein_coding | 2/2 | 448/781 | 415/621 | 139/206 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
VCX_chrX_7838171_7849143 | 7843783 | G | GTGGAGGA others(23): Show |
conservative_inframe_insertion | MODERATE | NA18955.hp1 NA19074.hp2 |
a0013 | a0013c0012 | a0013c0012t0007 | a0013c0012t0007g0001 | 2 | 305 | 0.0066 | 30 | c.417 others(37): Show |
p.Glu others(43): Show |
VCX | ENSG00000182583.13 | transcript | ENST00000688183.1 | protein_coding | 2/2 | 451/781 | 418/621 | 140/206 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
VCX_chrX_7838171_7849143 | 7843818 | A | AGAACCAC others(23): Show |
conservative_inframe_insertion | MODERATE | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 321 | 0.0031 | 30 | c.445 others(37): Show |
p.Gln others(13): Show |
VCX | ENSG00000182583.13 | transcript | ENST00000688183.1 | protein_coding | 2/2 | 508/781 | 475/621 | 159/206 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
VCX_chrX_7838171_7849143 | 7843870 | G | GAGGTGGA others(23): Show |
conservative_inframe_insertion | MODERATE | HG01928.hp1 HG02109.hp2 NA18973.hp2 |
a0001a0004a0005 | a0001c0001a0004c0004a0005c0005 | a0001c0001t0001a0004c0004t0001a0005c0005t0004 | a0001c0001t0001g0004 a0004c0004t0001g0007 a0005c0005t0004g0006 |
3 | 335 | 0.0090 | 30 | c.505 others(37): Show |
p.Gln others(13): Show |
VCX | ENSG00000182583.13 | transcript | ENST00000688183.1 | protein_coding | 2/2 | 568/781 | 535/621 | 179/206 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
VCX_chrX_7838171_7849143 | 7843878 | G | GGAACCAC others(23): Show |
conservative_inframe_insertion | MODERATE | HG04115.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0001 | 1 | 315 | 0.0032 | 30 | c.504 others(37): Show |
p.Ser others(43): Show |
VCX | ENSG00000182583.13 | transcript | ENST00000688183.1 | protein_coding | 2/2 | 538/781 | 505/621 | 169/206 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
VCX_chrX_7838171_7849143 | 7843933 | A | ATGGAAGA others(23): Show |
conservative_inframe_insertion | MODERATE | HG06807.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0001 | 1 | 295 | 0.0034 | 30 | c.564 others(37): Show |
p.Ser others(43): Show |
VCX | ENSG00000182583.13 | transcript | ENST00000688183.1 | protein_coding | 2/2 | 598/781 | 565/621 | 189/206 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
VCX_chrX_7838171_7849143 | 7843938 | A | AGAACCAC others(23): Show |
disruptive_inframe_insertion | MODERATE | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0001 | 1 | 315 | 0.0032 | 30 | c.551 others(37): Show |
p.Leu others(13): Show |
VCX | ENSG00000182583.13 | transcript | ENST00000688183.1 | protein_coding | 2/2 | 614/781 | 581/621 | 194/206 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
VCX_chrX_7838171_7849143 | 7843968 | G | GGAACCAC others(23): Show |
disruptive_inframe_insertion | MODERATE | HG02280.hp1 NA19240.hp2 |
a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0004 | 2 | 338 | 0.0059 | 30 | c.580 others(37): Show |
p.Pro others(43): Show |
VCX | ENSG00000182583.13 | transcript | ENST00000688183.1 | protein_coding | 2/2 | 614/781 | 581/621 | 194/206 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
VCX_chrX_7838171_7849143 | 7843976 | C | CGAGTCAG others(23): Show |
conservative_inframe_insertion | MODERATE | HG02109.hp1 HG02717.hp1 HG03453.hp1 others(1): Show |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0001 a0004c0004t0001g0002 |
4 | 192 | 0.0208 | 30 | c.594 others(37): Show |
p.Ser others(43): Show |
VCX | ENSG00000182583.13 | transcript | ENST00000688183.1 | protein_coding | 2/2 | 628/781 | 595/621 | 199/206 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
VCX_chrX_7838171_7849143 | 7844201 | T | TGGTGTGA others(23): Show |
downstream_gene_variant | MODIFIER | HG00639.hp1 HG01168.hp1 HG02080.hp2 others(22): Show |
a0002a0003a0007 | a0002c0002a0003c0003a0007c0018 | a0002c0002t0001a0002c0002t0002a0003c0003t0002others(1): Show | a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0002g0001 others(6): Show |
25 | 317 | 0.0789 | 30 | c.*18 others(39): Show |
VCX | ENSG00000182583.13 | transcript | ENST00000688183.1 | protein_coding | 59 | chrX | TogoVar | |||||||
VCX_chrX_7838171_7849143 | 7844222 | G | GGGAGGAA others(23): Show |
downstream_gene_variant | MODIFIER | NA19076.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 1 | 340 | 0.0029 | 30 | c.*20 others(39): Show |
VCX | ENSG00000182583.13 | transcript | ENST00000688183.1 | protein_coding | 80 | chrX | TogoVar | |||||||
VDAC2_chr10_75205796_75236448 | 75227577 | A | ATTTTTTT others(23): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 a0001c0001t0001g0077 |
2 | 73 | 0.0274 | 30 | c.736 others(47): Show |
VDAC2 | ENSG00000165637.14 | transcript | ENST00000332211.11 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VEGFC_chr4_176678538_176797922 | 176739940 | A | AGAATATA others(23): Show |
intron_variant | MODIFIER | HG01256.hp2 HG02896.hp2 HG02897.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0152 a0001c0001t0001g0157 a0001c0001t0002g0183 others(1): Show |
4 | 44 | 0.0909 | 30 | c.148 others(49): Show |
VEGFC | ENSG00000150630.4 | transcript | ENST00000618562.2 | protein_coding | 1/6 | chr4 | TogoVar | |||||||
VEGFC_chr4_176678538_176797922 | 176768491 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 48 | 0.0208 | 30 | c.147 others(49): Show |
VEGFC | ENSG00000150630.4 | transcript | ENST00000618562.2 | protein_coding | 1/6 | chr4 | TogoVar | |||||||
VEPH1_chr3_157254742_157508416 | 157304023 | T | TTATATAT others(23): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0008 | a0008c0020 | a0008c0020t0002 | a0008c0020t0002g0212 | 1 | 92 | 0.0109 | 30 | c.201 others(49): Show |
VEPH1 | ENSG00000197415.12 | transcript | ENST00000362010.7 | protein_coding | 11/13 | chr3 | TogoVar | |||||||
VEPH1_chr3_157254742_157508416 | 157304038 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG02071.hp2 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 a0001c0001t0001g0257 |
2 | 120 | 0.0167 | 30 | c.201 others(49): Show |
VEPH1 | ENSG00000197415.12 | transcript | ENST00000362010.7 | protein_coding | 11/13 | chr3 | TogoVar | |||||||
VEPH1_chr3_157254742_157508416 | 157304038 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01168.hp2 HG01981.hp2 others(10): Show |
a0001a0002a0003 | a0001c0001a0002c0005a0003c0002 | a0001c0001t0001a0001c0001t0009a0001c0001t0014others(2): Show | a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 others(10): Show |
13 | 131 | 0.0992 | 30 | c.201 others(49): Show |
VEPH1 | ENSG00000197415.12 | transcript | ENST00000362010.7 | protein_coding | 11/13 | chr3 | TogoVar | |||||||
VEPH1_chr3_157254742_157508416 | 157304038 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | NA19001.hp1 NA19079.hp1 |
a0002a0004 | a0002c0003a0004c0007 | a0002c0003t0002a0004c0007t0001 | a0002c0003t0002g0101 a0004c0007t0001g0283 |
2 | 120 | 0.0167 | 30 | c.201 others(49): Show |
VEPH1 | ENSG00000197415.12 | transcript | ENST00000362010.7 | protein_coding | 11/13 | chr3 | TogoVar | |||||||
VEPH1_chr3_157254742_157508416 | 157304038 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0013 | a0013c0017 | a0013c0017t0002 | a0013c0017t0002g0014 | 1 | 119 | 0.0084 | 30 | c.201 others(49): Show |
VEPH1 | ENSG00000197415.12 | transcript | ENST00000362010.7 | protein_coding | 11/13 | chr3 | TogoVar | |||||||
VGLL2_chr6_117260558_117278565 | 117271802 | A | AATAGATC others(23): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0046 | 1 | 430 | 0.0023 | 30 | c.914 others(45): Show |
VGLL2 | ENSG00000170162.14 | transcript | ENST00000326274.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
VGLL4_chr3_11551069_11648915 | 11627230 | A | ACACACAC others(23): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01346.hp2 HG01928.hp2 others(26): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0023others(4): Show | a0001c0001t0001g0068 a0001c0001t0001g0175 a0001c0001t0001g0176 others(26): Show |
29 | 225 | 0.1289 | 30 | c.82+ others(47): Show |
VGLL4 | ENSG00000144560.16 | transcript | ENST00000430365.7 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
VGLL4_chr3_11551069_11648915 | 11627230 | A | ACACACAC others(23): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0049 | 1 | 197 | 0.0051 | 30 | c.82+ others(47): Show |
VGLL4 | ENSG00000144560.16 | transcript | ENST00000430365.7 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
VHLL_chr1_156293624_156304307 | 156296607 | T | TATATATA others(23): Show |
downstream_gene_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 35 | 0.0286 | 30 | c.*21 others(41): Show |
VHLL | ENSG00000189030.10 | transcript | ENST00000339922.5 | protein_coding | 2016 | chr1 | TogoVar | |||||||
VILL_chr3_37985786_38012185 | 38007400 | G | GACACACA others(23): Show |
downstream_gene_variant | MODIFIER | HG02717.hp2 HG02970.hp1 |
a0002a0003 | a0002c0004a0003c0003 | a0002c0004t0001a0003c0003t0001 | a0002c0004t0001g0006 a0003c0003t0001g0026 |
2 | 23 | 0.0870 | 30 | c.*34 others(39): Show |
VILL | ENSG00000136059.16 | transcript | ENST00000383759.7 | protein_coding | 216 | chr3 | TogoVar | |||||||
VIPR1_chr3_42497643_42542568 | 42522101 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0253 | 1 | 206 | 0.0049 | 30 | c.292 others(47): Show |
VIPR1 | ENSG00000114812.13 | transcript | ENST00000325123.5 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
VIPR2_chr7_159023175_159149867 | 159025784 | A | ATATTTCT others(23): Show |
downstream_gene_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 334 | 0.0030 | 30 | c.*48 others(41): Show |
VIPR2 | ENSG00000106018.14 | transcript | ENST00000262178.7 | protein_coding | 2390 | chr7 | TogoVar | |||||||
VIPR2_chr7_159023175_159149867 | 159133030 | T | TGGCATAC others(23): Show |
intron_variant | MODIFIER | HG00609.hp2 HG02135.hp2 HG02523.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0007 | a0001c0002t0002g0026 a0001c0002t0002g0145 a0001c0002t0002g0318 others(1): Show |
4 | 316 | 0.0127 | 30 | c.151 others(47): Show |
VIPR2 | ENSG00000106018.14 | transcript | ENST00000262178.7 | protein_coding | 2/12 | chr7 | TogoVar | |||||||
VIRMA_chr8_94482689_94558469 | 94507893 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00735.hp1 HG01069.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0207 others(11): Show |
16 | 344 | 0.0465 | 30 | c.388 others(49): Show |
VIRMA | ENSG00000164944.12 | transcript | ENST00000297591.10 | protein_coding | 15/23 | chr8 | TogoVar | |||||||
VIRMA_chr8_94482689_94558469 | 94556361 | A | AATCTATA others(23): Show |
upstream_gene_variant | MODIFIER | HG02735.hp1 HG03669.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0206 |
2 | 319 | 0.0063 | 30 | c.-29 others(41): Show |
VIRMA | ENSG00000164944.12 | transcript | ENST00000297591.10 | protein_coding | 2893 | chr8 | TogoVar | |||||||
VIRMA_chr8_94482689_94558469 | 94556364 | T | TTATATAT others(23): Show |
upstream_gene_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0279 | 1 | 85 | 0.0118 | 30 | c.-29 others(41): Show |
VIRMA | ENSG00000164944.12 | transcript | ENST00000297591.10 | protein_coding | 2896 | chr8 | TogoVar | |||||||
VKORC1L1_chr7_65868074_65964558 | 65929680 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0070 | 1 | 186 | 0.0054 | 30 | c.195 others(49): Show |
VKORC1L1 | ENSG00000196715.7 | transcript | ENST00000360768.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
VMAC_chr19_5899872_5915853 | 5907610 | T | TAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG00140.hp2 NA19010.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 2 | 56 | 0.0357 | 30 | c.192 others(47): Show |
VMAC | ENSG00000187650.4 | transcript | ENST00000339485.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
VMP1_chr17_59702654_59847255 | 59772950 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0151 | 1 | 17 | 0.0588 | 30 | c.583 others(45): Show |
VMP1 | ENSG00000062716.13 | transcript | ENST00000262291.9 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
VN1R1_chr19_57449790_57462140 | 57457933 | A | AGTGTGTG others(23): Show |
upstream_gene_variant | MODIFIER | HG01358.hp1 HG03831.hp1 NA18992.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0000 a0002c0002t0001g0000 |
3 | 85 | 0.0353 | 30 | c.-14 others(41): Show |
VN1R1 | ENSG00000178201.5 | transcript | ENST00000321039.5 | protein_coding | 794 | chr19 | TogoVar | |||||||
VN1R1_chr19_57449790_57462140 | 57458501 | C | CAAAAAAA others(23): Show |
upstream_gene_variant | MODIFIER | HG03209.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 2 | 149 | 0.0134 | 30 | c.-20 others(41): Show |
VN1R1 | ENSG00000178201.5 | transcript | ENST00000321039.5 | protein_coding | 1362 | chr19 | TogoVar | |||||||
VNN1_chr6_132675849_132719055 | 132717176 | A | AAAAAAAA others(23): Show |
upstream_gene_variant | MODIFIER | HG02451.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 a0001c0001t0001g0209 |
2 | 175 | 0.0114 | 30 | c.-31 others(41): Show |
VNN1 | ENSG00000112299.8 | transcript | ENST00000367928.5 | protein_coding | 3122 | chr6 | TogoVar | |||||||
VNN2_chr6_132738870_132762904 | 132750497 | G | GTGTATGT others(23): Show |
intron_variant | MODIFIER | HG02004.hp1 HG02055.hp2 HG02723.hp2 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0005t0001 | a0001c0002t0001g0053 a0001c0005t0001g0129 |
3 | 196 | 0.0153 | 30 | c.120 others(47): Show |
VNN2 | ENSG00000112303.14 | transcript | ENST00000326499.11 | protein_coding | 5/6 | chr6 | TogoVar | |||||||
VNN2_chr6_132738870_132762904 | 132750497 | G | GTGTATGT others(23): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0134 | 1 | 194 | 0.0052 | 30 | c.120 others(47): Show |
VNN2 | ENSG00000112303.14 | transcript | ENST00000326499.11 | protein_coding | 5/6 | chr6 | TogoVar | |||||||
VPS13B_chr8_99008274_99882580 | 99832341 | A | ATTTTTTT others(23): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG02965.hp1 NA18991.hp1 |
a0002 | a0002c0003 | a0002c0003t0003a0002c0003t0008 | a0002c0003t0003g0036 a0002c0003t0008g0071 |
2 | 52 | 0.0385 | 30 | c.933 others(43): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 51/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12285970 | T | TTCCTCTC others(23): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0021 | a0001c0021t0013 | a0001c0021t0013g0046 | 1 | 152 | 0.0066 | 30 | c.563 others(49): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12396029 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG02071.hp2 HG02523.hp1 NA18906.hp1 others(2): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0002t0008a0001c0003t0005others(2): Show | a0001c0002t0002g0039 a0001c0002t0008g0044 a0001c0003t0005g0050 others(2): Show |
5 | 78 | 0.0641 | 30 | c.116 others(51): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | TogoVar | |||||||
VPS13D_chr1_12225030_12517047 | 12396029 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG01433.hp2 HG06807.hp2 |
a0006a0014 | a0006c0025a0014c0020 | a0006c0025t0003a0014c0020t0023 | a0006c0025t0003g0005 a0014c0020t0023g0077 |
2 | 75 | 0.0267 | 30 | c.116 others(51): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | TogoVar |