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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0021 others(33): Show |
36 | 298 | 0.1208 | 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 | a0001c0001t0001g0113 a0001c0001t0001g0279 a0001c0012t0001g0135 |
3 | 304 | 0.0099 | 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 | a0001c0001t0014g0080 | 1 | 187 | 0.0053 | 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 | a0012 | a0012c0013 | a0012c0013t0001 | a0012c0013t0001g0195 | 1 | 51 | 0.0196 | 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 | a0002c0003t0001g0107 a0002c0003t0001g0159 |
2 | 52 | 0.0385 | 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 | a0001c0001t0003g0070 a0001c0001t0006g0013 a0001c0001t0015g0093 others(3): Show |
6 | 158 | 0.0380 | 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 | a0001c0001t0004g0049 a0001c0001t0006g0014 a0001c0001t0014g0029 |
3 | 155 | 0.0194 | 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 | a0002c0002t0009g0006 | 1 | 192 | 0.0052 | 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 | 86 | 0.0116 | 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 | a0001c0002t0009g0220 a0001c0003t0009g0013 |
2 | 87 | 0.0230 | 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 | 86 | 0.0116 | 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 | a0001c0003t0002g0017 a0001c0003t0009g0018 |
2 | 87 | 0.0230 | 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 | a0001c0003t0002g0016 a0001c0003t0002g0030 |
2 | 87 | 0.0230 | 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 | a0002c0001t0001 | a0002c0001t0001g0003 | 1 | 74 | 0.0135 | 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 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0037 | 1 | 44 | 0.0227 | 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 | a0001c0001t0002g0001 | 2 | 48 | 0.0417 | 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 | a0001c0009t0014g0281 | 1 | 33 | 0.0303 | 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 | a0009 | a0009c0010 | a0009c0010t0001 | a0009c0010t0001g0040 | 1 | 235 | 0.0043 | 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 | a0001c0001t0001g0062 | 1 | 132 | 0.0076 | 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 | a0001c0001t0001g0112 a0001c0001t0001g0115 |
2 | 79 | 0.0253 | 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(247): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(174): Show |
250 | 300 | 0.8333 | 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 | 119 | 0.0084 | 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 | a0001c0001t0001g0103 a0003c0002t0001g0086 a0003c0002t0001g0088 |
3 | 121 | 0.0248 | 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 | a0001c0010t0002g0205 a0001c0010t0002g0206 a0002c0003t0002g0067 others(5): Show |
8 | 126 | 0.0635 | 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 | a0003c0002t0002g0076 a0003c0002t0002g0131 |
2 | 120 | 0.0167 | 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 | a0004 | a0004c0010 | a0004c0010t0026 | a0004c0010t0026g0190 | 1 | 197 | 0.0051 | 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 | 35 | 0.0286 | 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 | a0001c0001t0001g0052 | 1 | 22 | 0.0455 | 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 | 55 | 0.0182 | 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 | 85 | 0.0353 | 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 |
a0001a0006a0009 | a0001c0002a0006c0014a0009c0016 | a0001c0002t0004a0001c0002t0007a0006c0014t0001others(1): Show | a0001c0002t0004g0136 a0001c0002t0004g0138 a0001c0002t0007g0137 others(2): Show |
5 | 198 | 0.0253 | 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 | a0001c0002t0001g0135 | 1 | 194 | 0.0052 | 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 | a0001c0001t0001g0082 a0002c0004t0001g0062 |
2 | 278 | 0.0072 | 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 | 271 | 0.0037 | 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 | a0003c0007t0005g0049 | 1 | 16 | 0.0625 | 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 | a0002c0003t0003g0100 a0002c0003t0003g0101 |
2 | 124 | 0.0161 | 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 | a0001c0001t0003g0007 | 1 | 350 | 0.0029 | 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 | a0001c0001t0002a0001c0005t0002a0003c0007t0007 | a0001c0001t0002g0140 a0001c0005t0002g0059 a0003c0007t0007g0151 |
3 | 76 | 0.0395 | 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 | a0001c0006t0003a0001c0006t0010 | a0001c0006t0003g0013 a0001c0006t0010g0003 |
2 | 114 | 0.0175 | 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 | a0001c0002t0008g0026 | 1 | 313 | 0.0032 | 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 | 52 | 0.0192 | 36 | c.222 others(55): Show |
VPS35L | ENSG00000103544.17 | transcript | ENST00000417362.7 | protein_coding | 26/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VPS35L_chr16_19550703_19706163 | 19666927 | T | TCTTTCTT others(29): Show |
intron_variant | MODIFIER | HG00609.hp2 HG02698.hp2 HG02970.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0017 a0001c0001t0001g0267 a0001c0003t0001g0064 |
3 | 54 | 0.0556 | 36 | c.222 others(55): Show |
VPS35L | ENSG00000103544.17 | transcript | ENST00000417362.7 | protein_coding | 26/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VPS35L_chr16_19550703_19706163 | 19666927 | T | TCTTTCTT others(29): Show |
intron_variant | MODIFIER | HG03195.hp2 NA20300.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0068 a0001c0003t0001g0172 |
2 | 53 | 0.0377 | 36 | c.222 others(55): Show |
VPS35L | ENSG00000103544.17 | transcript | ENST00000417362.7 | protein_coding | 26/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VPS45_chr1_150062776_150150329 | 150076077 | T | TATATATA others(29): Show |
intron_variant | MODIFIER | HG01891.hp2 HG03139.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0014 a0002c0002t0002g0015 |
2 | 166 | 0.0120 | 36 | c.290 others(51): Show |
VPS45 | ENSG00000136631.16 | transcript | ENST00000644510.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS53_chr17_503668_719839 | 543813 | A | AAGGAAGG others(29): Show |
intron_variant | MODIFIER | HG03831.hp2 NA18940.hp1 NA19080.hp1 |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0023a0003c0004t0059a0003c0004t0063 | a0001c0002t0023g0085 a0003c0004t0059g0020 a0003c0004t0063g0039 |
3 | 199 | 0.0151 | 36 | c.186 others(55): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 17/21 | chr17 | TogoVar | |||||||
VPS53_chr17_503668_719839 | 543813 | A | AAGGAAGG others(29): Show |
intron_variant | MODIFIER | NA18944.hp2 NA18961.hp2 NA19087.hp2 |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0097a0003c0004t0004a0003c0004t0023 | a0001c0002t0097g0223 a0003c0004t0004g0032 a0003c0004t0023g0004 |
3 | 199 | 0.0151 | 36 | c.186 others(55): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 17/21 | chr17 | TogoVar | |||||||
VPS53_chr17_503668_719839 | 662751 | G | GACAAAGA others(29): Show |
intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0002 | a0001c0002t0068 | a0001c0002t0068g0093 | 1 | 125 | 0.0080 | 36 | c.286 others(51): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 4/21 | chr17 | TogoVar | |||||||
VPS53_chr17_503668_719839 | 662751 | G | GAGAAAGA others(29): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0004 | a0004c0008 | a0004c0008t0039 | a0004c0008t0039g0207 | 1 | 125 | 0.0080 | 36 | c.286 others(51): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 4/21 | chr17 | TogoVar | |||||||
VPS53_chr17_503668_719839 | 662834 | A | AAAGAGAA others(29): Show |
intron_variant | MODIFIER | HG02602.hp1 NA19087.hp1 |
a0001 | a0001c0005 | a0001c0005t0010a0001c0005t0048 | a0001c0005t0010g0007 a0001c0005t0048g0005 |
2 | 95 | 0.0211 | 36 | c.286 others(51): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 4/21 | chr17 | TogoVar | |||||||
VPS53_chr17_503668_719839 | 662834 | A | AAAGAGAA others(29): Show |
intron_variant | MODIFIER | HG01981.hp1 NA18612.hp1 |
a0002 | a0002c0003 | a0002c0003t0087a0002c0003t0142 | a0002c0003t0087g0171 a0002c0003t0142g0191 |
2 | 95 | 0.0211 | 36 | c.286 others(51): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 4/21 | chr17 | TogoVar |