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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UXT_chrX_47646796_47664180 | 47660105 | C | CCCTTCCT others(29): Show |
upstream_gene_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 2 | 290 | 0.0069 | 36 | c.-10 others(47): Show |
UXT | ENSG00000126756.12 | transcript | ENST00000333119.8 | protein_coding | 926 | chrX | TogoVar | ||||||
UXT_chrX_47646796_47664180 | 47660105 | C | CCCTTCCT others(29): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 HG02818.hp2 HG02886.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0011 | 5 | 290 | 0.0172 | 36 | c.-10 others(47): Show |
UXT | ENSG00000126756.12 | transcript | ENST00000333119.8 | protein_coding | 926 | chrX | TogoVar | ||||||
VAV1_chr19_6767708_6862361 | 6814667 | C | CCTTTCTT others(29): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 306 | 0.0033 | 36 | c.205 others(53): Show |
VAV1 | ENSG00000141968.8 | transcript | ENST00000602142.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
VAV1_chr19_6767708_6862361 | 6814671 | C | CCTTCCTT others(29): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 306 | 0.0033 | 36 | c.205 others(53): Show |
VAV1 | ENSG00000141968.8 | transcript | ENST00000602142.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
VAV1_chr19_6767708_6862361 | 6814671 | C | CCTTCCTT others(29): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 306 | 0.0033 | 36 | c.205 others(53): Show |
VAV1 | ENSG00000141968.8 | transcript | ENST00000602142.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
VAV1_chr19_6767708_6862361 | 6814671 | C | CCTTCCTT others(29): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 306 | 0.0033 | 36 | c.205 others(53): Show |
VAV1 | ENSG00000141968.8 | transcript | ENST00000602142.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
VAV1_chr19_6767708_6862361 | 6814671 | C | CCTTCCTT others(29): Show |
intron_variant | MODIFIER | HG02074.hp1 NA18994.hp1 NA19054.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081a0001c0001t0001g0138a0001c0001t0001g0204 | 3 | 306 | 0.0098 | 36 | c.205 others(53): Show |
VAV1 | ENSG00000141968.8 | transcript | ENST00000602142.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
VAV1_chr19_6767708_6862361 | 6814671 | C | CCTTTCTT others(29): Show |
intron_variant | MODIFIER | HG02155.hp1 NA19082.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0281a0001c0001t0001g0286 | 2 | 306 | 0.0065 | 36 | c.205 others(53): Show |
VAV1 | ENSG00000141968.8 | transcript | ENST00000602142.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
VAV1_chr19_6767708_6862361 | 6832527 | C | CTCCTCCC others(29): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 306 | 0.0033 | 36 | c.150 others(53): Show |
VAV1 | ENSG00000141968.8 | transcript | ENST00000602142.6 | protein_coding | 15/26 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
VAV1_chr19_6767708_6862361 | 6832561 | C | CCTTCCTC others(29): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01069.hp1 HG01071.hp2 others(33): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0001g0021others(33): Show | 36 | 306 | 0.1177 | 36 | c.150 others(53): Show |
VAV1 | ENSG00000141968.8 | transcript | ENST00000602142.6 | protein_coding | 15/26 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
VAV1_chr19_6767708_6862361 | 6832571 | C | CTTCCTCC others(29): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02647.hp1 HG03139.hp2 |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0012t0001 | a0001c0001t0001g0109a0001c0001t0001g0282a0001c0012t0001g0135 | 3 | 306 | 0.0098 | 36 | c.150 others(53): Show |
VAV1 | ENSG00000141968.8 | transcript | ENST00000602142.6 | protein_coding | 15/26 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
VAV3_chr1_107566161_107970180 | 107728588 | T | TGTATACG others(29): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0077 | 1 | 210 | 0.0048 | 36 | c.150 others(57): Show |
VAV3 | ENSG00000134215.16 | transcript | ENST00000370056.9 | protein_coding | 15/26 | chr1 | TogoVar | ||||||
VAV3_chr1_107566161_107970180 | 107728600 | C | CGTATACG others(29): Show |
intron_variant | MODIFIER | NA18982.hp2 | a0011 | a0011c0013 | a0011c0013t0001 | a0011c0013t0001g0194 | 1 | 210 | 0.0048 | 36 | c.150 others(57): Show |
VAV3 | ENSG00000134215.16 | transcript | ENST00000370056.9 | protein_coding | 15/26 | chr1 | TogoVar | ||||||
VAV3_chr1_107566161_107970180 | 107728600 | C | CGTATATG others(29): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01975.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0107a0002c0003t0001g0161 | 2 | 210 | 0.0095 | 36 | c.150 others(57): Show |
VAV3 | ENSG00000134215.16 | transcript | ENST00000370056.9 | protein_coding | 15/26 | chr1 | TogoVar | ||||||
VAV3_chr1_107566161_107970180 | 107753513 | C | CACACATA others(29): Show |
intron_variant | MODIFIER | HG01358.hp1 HG02280.hp1 HG02698.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0003a0001c0001t0006a0001c0001t0015others(3): Show | a0001c0001t0003g0070a0001c0001t0006g0013a0001c0001t0015g0092others(3): Show | 6 | 210 | 0.0286 | 36 | c.117 others(55): Show |
VAV3 | ENSG00000134215.16 | transcript | ENST00000370056.9 | protein_coding | 12/26 | chr1 | TogoVar | ||||||
VAV3_chr1_107566161_107970180 | 107753513 | C | CACACATA others(29): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03516.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0014 | a0001c0001t0004g0050a0001c0001t0006g0014a0001c0001t0014g0029 | 3 | 210 | 0.0143 | 36 | c.117 others(55): Show |
VAV3 | ENSG00000134215.16 | transcript | ENST00000370056.9 | protein_coding | 12/26 | chr1 | TogoVar | ||||||
VAV3_chr1_107566161_107970180 | 107952485 | T | TATATATA others(29): Show |
intron_variant | MODIFIER | NA18974.hp1 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0007 | 1 | 210 | 0.0048 | 36 | c.204 others(55): Show |
VAV3 | ENSG00000134215.16 | transcript | ENST00000370056.9 | protein_coding | 1/26 | chr1 | TogoVar | ||||||
VCPIP1_chr8_66623487_66672231 | 66638970 | C | CTCTCTCT others(29): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0215 | 1 | 258 | 0.0039 | 36 | c.279 others(55): Show |
VCPIP1 | ENSG00000175073.8 | transcript | ENST00000310421.5 | protein_coding | 2/2 | chr8 | TogoVar | ||||||
VCPIP1_chr8_66623487_66672231 | 66638970 | C | CTCTCTCT others(29): Show |
intron_variant | MODIFIER | HG02683.hp2 NA19002.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0009a0001c0003t0009 | a0001c0002t0009g0220a0001c0003t0009g0013 | 2 | 258 | 0.0078 | 36 | c.279 others(55): Show |
VCPIP1 | ENSG00000175073.8 | transcript | ENST00000310421.5 | protein_coding | 2/2 | chr8 | TogoVar | ||||||
VCPIP1_chr8_66623487_66672231 | 66638970 | C | CTCTCTCT others(29): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0011 | 1 | 258 | 0.0039 | 36 | c.279 others(55): Show |
VCPIP1 | ENSG00000175073.8 | transcript | ENST00000310421.5 | protein_coding | 2/2 | chr8 | TogoVar | ||||||
VCPIP1_chr8_66623487_66672231 | 66638970 | C | CTCTCTCT others(29): Show |
intron_variant | MODIFIER | NA19001.hp1 NA19066.hp1 |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0009 | a0001c0003t0002g0017a0001c0003t0009g0018 | 2 | 258 | 0.0078 | 36 | c.279 others(55): Show |
VCPIP1 | ENSG00000175073.8 | transcript | ENST00000310421.5 | protein_coding | 2/2 | chr8 | TogoVar | ||||||
VCPIP1_chr8_66623487_66672231 | 66638970 | C | CTCTCTCT others(29): Show |
intron_variant | MODIFIER | HG02738.hp1 NA19004.hp1 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0016a0001c0003t0002g0030 | 2 | 258 | 0.0078 | 36 | c.279 others(55): Show |
VCPIP1 | ENSG00000175073.8 | transcript | ENST00000310421.5 | protein_coding | 2/2 | chr8 | TogoVar | ||||||
VCX2_chrX_8164944_8176267 | 8169859 | T | TCCCCCCT others(29): Show |
downstream_gene_variant | MODIFIER | HG02074.hp1 | a0002 | a0002c0001 | a0002c0001t0014 | a0002c0001t0014g0034 | 1 | 115 | 0.0087 | 36 | c.*17 others(45): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 84 | chrX | TogoVar | ||||||
VCX3A_chrX_6528618_6540118 | 6533181 | T | TCTTCCTC others(29): Show |
downstream_gene_variant | MODIFIER | HG02602.hp1 | a0026 | a0026c0018 | a0026c0018t0013 | a0026c0018t0013g0037 | 1 | 74 | 0.0135 | 36 | c.*56 others(45): Show |
VCX3A | ENSG00000169059.13 | transcript | ENST00000381089.7 | protein_coding | 436 | chrX | TogoVar | ||||||
VCX3A_chrX_6528618_6540118 | 6533242 | A | ACACCACC others(29): Show |
downstream_gene_variant | MODIFIER | NA19000.hp1 NA19087.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001a0001c0001t0002g0039 | 2 | 74 | 0.0270 | 36 | c.*50 others(45): Show |
VCX3A | ENSG00000169059.13 | transcript | ENST00000381089.7 | protein_coding | 375 | chrX | TogoVar | ||||||
VDR_chr12_47836537_47909994 | 47871292 | C | CTCTTTCT others(29): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0009 | a0001c0009t0014 | a0001c0009t0014g0283 | 1 | 358 | 0.0028 | 36 | c.147 others(53): Show |
VDR | ENSG00000111424.12 | transcript | ENST00000549336.6 | protein_coding | 3/9 | chr12 | TogoVar | ||||||
VEGFB_chr11_64229584_64244264 | 64237083 | C | CAGAGAGA others(29): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0040 | 1 | 328 | 0.0031 | 36 | c.375 others(51): Show |
VEGFB | ENSG00000173511.10 | transcript | ENST00000309422.7 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
VEGFB_chr11_64229584_64244264 | 64237085 | A | AAGAGAGA others(29): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 328 | 0.0031 | 36 | c.375 others(49): Show |
VEGFB | ENSG00000173511.10 | transcript | ENST00000309422.7 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
VEGFD_chrX_15340596_15389413 | 15367986 | A | AAAAGAAA others(29): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132a0001c0001t0001g0139 | 2 | 302 | 0.0066 | 36 | c.91- others(51): Show |
VEGFD | ENSG00000165197.5 | transcript | ENST00000297904.4 | protein_coding | 1/6 | chrX | TogoVar | ||||||
VEGFD_chrX_15340596_15389413 | 15381893 | G | GTATTAGT others(29): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(248): Show |
a0000a0001a0002others(2): Show | a0000c0008a0001c0001a0001c0002others(6): Show | a0000c0008t0008a0001c0001t0001a0001c0001t0002others(18): Show | a0000c0008t0008g0090a0001c0001t0001g0001a0001c0001t0001g0003others(223): Show | 251 | 302 | 0.8311 | 36 | c.90+ others(51): Show |
VEGFD | ENSG00000165197.5 | transcript | ENST00000297904.4 | protein_coding | 1/6 | chrX | TogoVar | ||||||
VEPH1_chr3_157254742_157508416 | 157304038 | T | TATATATA others(29): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0082 | 1 | 304 | 0.0033 | 36 | c.201 others(55): Show |
VEPH1 | ENSG00000197415.12 | transcript | ENST00000362010.7 | protein_coding | 11/13 | chr3 | TogoVar | ||||||
VEPH1_chr3_157254742_157508416 | 157304038 | T | TATATATA others(29): Show |
intron_variant | MODIFIER | HG01516.hp2 HG02717.hp1 HG02809.hp2 |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0001a0003c0002t0001 | a0001c0001t0001g0102a0003c0002t0001g0086a0003c0002t0001g0090 | 3 | 304 | 0.0099 | 36 | c.201 others(55): Show |
VEPH1 | ENSG00000197415.12 | transcript | ENST00000362010.7 | protein_coding | 11/13 | chr3 | TogoVar | ||||||
VEPH1_chr3_157254742_157508416 | 157304038 | T | TATATATA others(29): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG04228.hp1 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0010a0002c0003a0003c0015others(1): Show | a0001c0010t0002a0002c0003t0002a0003c0015t0002others(1): Show | a0001c0010t0002g0205a0001c0010t0002g0206a0002c0003t0002g0066others(5): Show | 8 | 304 | 0.0263 | 36 | c.201 others(55): Show |
VEPH1 | ENSG00000197415.12 | transcript | ENST00000362010.7 | protein_coding | 11/13 | chr3 | TogoVar | ||||||
VEPH1_chr3_157254742_157508416 | 157304038 | T | TATATATA others(29): Show |
intron_variant | MODIFIER | NA18975.hp1 NA18999.hp2 |
a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0076a0003c0002t0002g0129 | 2 | 304 | 0.0066 | 36 | c.201 others(55): Show |
VEPH1 | ENSG00000197415.12 | transcript | ENST00000362010.7 | protein_coding | 11/13 | chr3 | TogoVar | ||||||
VGLL4_chr3_11551069_11648915 | 11627230 | A | ACACACAC others(29): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0003 | a0003c0010 | a0003c0010t0026 | a0003c0010t0026g0188 | 1 | 388 | 0.0026 | 36 | c.82+ others(53): Show |
VGLL4 | ENSG00000144560.16 | transcript | ENST00000430365.7 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
VHLL_chr1_156293624_156304307 | 156296607 | T | TATATATA others(29): Show |
downstream_gene_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 388 | 0.0026 | 36 | c.*21 others(47): Show |
VHLL | ENSG00000189030.10 | transcript | ENST00000339922.5 | protein_coding | 2016 | chr1 | TogoVar | ||||||
VILL_chr3_37985786_38012185 | 38007400 | G | GACACACA others(29): Show |
downstream_gene_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 324 | 0.0031 | 36 | c.*34 others(45): Show |
VILL | ENSG00000136059.16 | transcript | ENST00000383759.7 | protein_coding | 216 | chr3 | TogoVar | ||||||
VMAC_chr19_5899872_5915853 | 5907610 | T | TAAAAAAA others(29): Show |
intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 386 | 0.0026 | 36 | c.192 others(53): Show |
VMAC | ENSG00000187650.4 | transcript | ENST00000339485.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
VN1R1_chr19_57449790_57462140 | 57457933 | A | AGTGTGTG others(29): Show |
upstream_gene_variant | MODIFIER | HG01081.hp1 HG01256.hp2 HG01258.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 3 | 430 | 0.0070 | 36 | c.-14 others(47): Show |
VN1R1 | ENSG00000178201.5 | transcript | ENST00000321039.5 | protein_coding | 794 | chr19 | TogoVar | ||||||
VNN2_chr6_132738870_132762904 | 132750497 | G | GTGTATGT others(29): Show |
intron_variant | MODIFIER | HG03130.hp2 NA18967.hp2 NA19000.hp1 others(2): Show |
a0001a0007a0008 | a0001c0002a0007c0014a0008c0016 | a0001c0002t0004a0001c0002t0007a0007c0014t0001others(1): Show | a0001c0002t0004g0135a0001c0002t0004g0137a0001c0002t0007g0136others(2): Show | 5 | 436 | 0.0115 | 36 | c.120 others(53): Show |
VNN2 | ENSG00000112303.14 | transcript | ENST00000326499.11 | protein_coding | 5/6 | chr6 | TogoVar | ||||||
VNN2_chr6_132738870_132762904 | 132750497 | G | GTGTATGT others(29): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0134 | 1 | 436 | 0.0023 | 36 | c.120 others(53): Show |
VNN2 | ENSG00000112303.14 | transcript | ENST00000326499.11 | protein_coding | 5/6 | chr6 | TogoVar | ||||||
VNN2_chr6_132738870_132762904 | 132758000 | T | TTTCTTCT others(29): Show |
upstream_gene_variant | MODIFIER | NA19043.hp2 NA20300.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0082a0002c0004t0001g0062 | 2 | 436 | 0.0046 | 36 | c.-15 others(45): Show |
VNN2 | ENSG00000112303.14 | transcript | ENST00000326499.11 | protein_coding | 97 | chr6 | TogoVar | ||||||
VPS13A_chr9_77172534_77426537 | 77207237 | A | ATATATAT others(29): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0306 | 1 | 348 | 0.0029 | 36 | c.385 others(53): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 5/71 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
VPS13B_chr8_99008274_99882580 | 99270131 | C | CTTTTTTT others(29): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0003 | a0003c0007 | a0003c0007t0005 | a0003c0007t0005g0052 | 1 | 134 | 0.0075 | 36 | c.251 others(55): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 17/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
VPS13B_chr8_99008274_99882580 | 99730741 | A | AGGTACCT others(29): Show |
intron_variant | MODIFIER | HG01496.hp1 HG01978.hp1 |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0097a0002c0003t0003g0098 | 2 | 134 | 0.0149 | 36 | c.705 others(55): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 39/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
VPS13C_chr15_61847389_62065447 | 62037281 | A | ATATATAT others(29): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006 | 1 | 352 | 0.0028 | 36 | c.188 others(53): Show |
VPS13C | ENSG00000129003.19 | transcript | ENST00000644861.2 | protein_coding | 3/84 | chr15 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12396029 | A | ATATATAT others(29): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02622.hp1 HG02895.hp2 |
a0001a0003 | a0001c0001a0001c0005a0003c0007 | a0001c0001t0005a0001c0005t0005a0003c0007t0006 | a0001c0001t0005g0140a0001c0005t0005g0059a0003c0007t0006g0151 | 3 | 154 | 0.0195 | 36 | c.116 others(57): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12433931 | T | TGAGAGAG others(29): Show |
intron_variant | MODIFIER | HG01993.hp1 HG02698.hp1 |
a0001 | a0001c0006 | a0001c0006t0009a0001c0006t0025 | a0001c0006t0009g0013a0001c0006t0025g0003 | 2 | 154 | 0.0130 | 36 | c.123 others(59): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
VPS26A_chr10_69119178_69179412 | 69137862 | G | GATATATA others(29): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0022 | 1 | 336 | 0.0030 | 36 | c.153 others(53): Show |
VPS26A | ENSG00000122958.15 | transcript | ENST00000263559.11 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
VPS35L_chr16_19550703_19706163 | 19666927 | T | TCTTCCTT others(29): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0070 | 1 | 284 | 0.0035 | 36 | c.222 others(55): Show |
VPS35L | ENSG00000103544.17 | transcript | ENST00000417362.7 | protein_coding | 26/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |