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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
VEGFD_chrX_15340596_15389413 | 15351027 | ATTTTTTT others(13): Show |
A | intron_variant | MODIFIER | HG02647.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 a0001c0001t0001g0097 |
2 | 90 | 0.0222 | -20 | c.742 others(37): Show |
VEGFD | ENSG00000165197.5 | transcript | ENST00000297904.4 | protein_coding | 5/6 | chrX | TogoVar | |||||||
VEGFD_chrX_15340596_15389413 | 15387063 | CTTTTCTT others(13): Show |
C | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02615.hp2 HG02818.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0162 a0001c0002t0002g0163 a0001c0002t0002g0164 others(2): Show |
5 | 300 | 0.0167 | -20 | c.-31 others(31): Show |
VEGFD | ENSG00000165197.5 | transcript | ENST00000297904.4 | protein_coding | 2651 | chrX | TogoVar | |||||||
VEGFD_chrX_15340596_15389413 | 15387068 | CTTTTCTT others(13): Show |
C | upstream_gene_variant | MODIFIER | HG00323.hp1 HG01081.hp2 HG01099.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0025 a0001c0001t0001g0040 others(4): Show |
7 | 146 | 0.0479 | -20 | c.-31 others(31): Show |
VEGFD | ENSG00000165197.5 | transcript | ENST00000297904.4 | protein_coding | 2656 | chrX | TogoVar | |||||||
VEPH1_chr3_157254742_157508416 | 157272240 | TCTTCCTT others(13): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02818.hp1 HG03579.hp2 |
a0001a0005 | a0001c0001a0005c0013 | a0001c0001t0002a0001c0001t0003a0005c0013t0017 | a0001c0001t0002g0274 a0001c0001t0003g0159 a0005c0013t0017g0298 |
3 | 27 | 0.1111 | -20 | c.212 others(39): Show |
VEPH1 | ENSG00000197415.12 | transcript | ENST00000362010.7 | protein_coding | 12/13 | chr3 | TogoVar | |||||||
VEPH1_chr3_157254742_157508416 | 157378306 | GTATATAT others(13): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG01168.hp2 HG01192.hp1 others(17): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0002c0005others(3): Show | a0001c0001t0001a0002c0003t0002a0002c0005t0001others(5): Show | a0001c0001t0001g0149 a0001c0001t0001g0184 a0002c0003t0002g0004 others(17): Show |
20 | 25 | 0.8000 | -20 | c.112 others(39): Show |
VEPH1 | ENSG00000197415.12 | transcript | ENST00000362010.7 | protein_coding | 7/13 | chr3 | TogoVar | |||||||
VEPH1_chr3_157254742_157508416 | 157389628 | CAGATAGA others(13): Show |
C | intron_variant | MODIFIER | HG00621.hp1 HG02258.hp2 HG02280.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0010a0002c0003t0002 | a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0265 others(2): Show |
5 | 31 | 0.1613 | -20 | c.907 others(37): Show |
VEPH1 | ENSG00000197415.12 | transcript | ENST00000362010.7 | protein_coding | 6/13 | chr3 | TogoVar | |||||||
VEPH1_chr3_157254742_157508416 | 157505823 | GTTTCTTT others(13): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(65): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0010others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(14): Show | a0001c0001t0001g0040 a0001c0001t0001g0102 a0001c0001t0001g0103 others(65): Show |
68 | 240 | 0.2833 | -20 | c.-27 others(31): Show |
VEPH1 | ENSG00000197415.12 | transcript | ENST00000362010.7 | protein_coding | 2408 | chr3 | TogoVar | |||||||
VEZT_chr12_95212807_95307799 | 95240021 | AAAGGAAG others(13): Show |
A | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG02647.hp1 others(3): Show |
a0002a0004 | a0002c0002a0004c0005 | a0002c0002t0001a0004c0005t0005 | a0002c0002t0001g0136 a0004c0005t0005g0220 a0004c0005t0005g0225 others(3): Show |
6 | 228 | 0.0263 | -20 | c.37- others(37): Show |
VEZT | ENSG00000028203.19 | transcript | ENST00000436874.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
VGLL1_chrX_136527215_136561799 | 136532573 | ATTTCTTT others(13): Show |
A | intron_variant | MODIFIER | HG01070.hp1 HG01070.hp2 HG01123.hp2 others(11): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0002t0001a0003c0005t0001 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0011 others(6): Show |
14 | 68 | 0.2059 | -20 | c.-26 others(35): Show |
VGLL1 | ENSG00000102243.13 | transcript | ENST00000370634.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
VGLL3_chr3_86932973_86996149 | 86988640 | CAAAAAAA others(13): Show |
C | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0190 | 1 | 111 | 0.0090 | -20 | c.126 others(37): Show |
VGLL3 | ENSG00000206538.9 | transcript | ENST00000398399.7 | protein_coding | 1/3 | chr3 | TogoVar | |||||||
VGLL4_chr3_11551069_11648915 | 11573296 | AAAGAAAG others(13): Show |
A | intron_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 384 | 0.0026 | -20 | c.273 others(37): Show |
VGLL4 | ENSG00000144560.16 | transcript | ENST00000430365.7 | protein_coding | 2/4 | chr3 | TogoVar | |||||||
VGLL4_chr3_11551069_11648915 | 11573312 | GAAGGAAG others(13): Show |
G | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0154 | 1 | 378 | 0.0026 | -20 | c.273 others(37): Show |
VGLL4 | ENSG00000144560.16 | transcript | ENST00000430365.7 | protein_coding | 2/4 | chr3 | TogoVar | |||||||
VGLL4_chr3_11551069_11648915 | 11573316 | GAAGAAAG others(13): Show |
G | intron_variant | MODIFIER | HG00621.hp1 NA19087.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0217 a0001c0002t0002g0240 |
2 | 354 | 0.0056 | -20 | c.273 others(37): Show |
VGLL4 | ENSG00000144560.16 | transcript | ENST00000430365.7 | protein_coding | 2/4 | chr3 | TogoVar | |||||||
VIL1_chr2_218414123_218458295 | 218415947 | CTCTCTCT others(13): Show |
C | upstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0034 | 1 | 328 | 0.0030 | -20 | c.-32 others(31): Show |
VIL1 | ENSG00000127831.11 | transcript | ENST00000248444.10 | protein_coding | 3175 | chr2 | TogoVar | |||||||
VIL1_chr2_218414123_218458295 | 218415949 | CTCTCTCT others(13): Show |
C | upstream_gene_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0065 | 1 | 317 | 0.0032 | -20 | c.-32 others(31): Show |
VIL1 | ENSG00000127831.11 | transcript | ENST00000248444.10 | protein_coding | 3173 | chr2 | TogoVar | |||||||
VIL1_chr2_218414123_218458295 | 218415951 | CTCTCTCT others(13): Show |
C | upstream_gene_variant | MODIFIER | HG01975.hp1 HG02965.hp1 HG03471.hp1 others(1): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0002a0001c0001t0023a0005c0006t0002 | a0001c0001t0002g0034 a0001c0001t0023g0196 a0005c0006t0002g0103 others(1): Show |
4 | 315 | 0.0127 | -20 | c.-32 others(31): Show |
VIL1 | ENSG00000127831.11 | transcript | ENST00000248444.10 | protein_coding | 3171 | chr2 | TogoVar | |||||||
VIL1_chr2_218414123_218458295 | 218415955 | CTCTCTCT others(13): Show |
C | upstream_gene_variant | MODIFIER | HG02145.hp1 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0050 a0001c0001t0005g0077 |
2 | 308 | 0.0065 | -20 | c.-32 others(31): Show |
VIL1 | ENSG00000127831.11 | transcript | ENST00000248444.10 | protein_coding | 3167 | chr2 | TogoVar | |||||||
VIPR2_chr7_159023175_159149867 | 159138306 | GTTGTGAT others(13): Show |
G | intron_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 334 | 0.0030 | -20 | c.151 others(37): Show |
VIPR2 | ENSG00000106018.14 | transcript | ENST00000262178.7 | protein_coding | 2/12 | chr7 | TogoVar | |||||||
VIRMA_chr8_94482689_94558469 | 94555870 | CATATATA others(13): Show |
C | upstream_gene_variant | MODIFIER | HG00438.hp1 HG01081.hp2 HG01261.hp1 others(26): Show |
a0001a0009 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(4): Show | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0260 others(24): Show |
29 | 37 | 0.7838 | -20 | c.-24 others(31): Show |
VIRMA | ENSG00000164944.12 | transcript | ENST00000297591.10 | protein_coding | 2402 | chr8 | TogoVar | |||||||
VIT_chr2_36691707_36819794 | 36717334 | ATGTGTGT others(13): Show |
A | intron_variant | MODIFIER | HG02572.hp1 HG02735.hp2 HG03130.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0004t0003others(1): Show | a0001c0001t0001g0086 a0001c0001t0001g0178 a0001c0001t0001g0179 others(3): Show |
6 | 31 | 0.1935 | -20 | c.52+ others(33): Show |
VIT | ENSG00000205221.13 | transcript | ENST00000379242.8 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VIT_chr2_36691707_36819794 | 36717407 | GGGGTTTC others(13): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(102): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0043 a0001c0001t0001g0050 a0001c0001t0001g0052 others(100): Show |
105 | 326 | 0.3221 | -20 | c.52+ others(35): Show |
VIT | ENSG00000205221.13 | transcript | ENST00000379242.8 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VKORC1L1_chr7_65868074_65964558 | 65872986 | CCCATCCC others(13): Show |
C | upstream_gene_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0136 | 1 | 348 | 0.0029 | -20 | c.-38 others(29): Show |
VKORC1L1 | ENSG00000196715.7 | transcript | ENST00000360768.5 | protein_coding | 87 | chr7 | TogoVar | |||||||
VKORC1L1_chr7_65868074_65964558 | 65900042 | CGTGTGTG others(13): Show |
C | intron_variant | MODIFIER | HG03669.hp2 NA18993.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0051 a0001c0001t0004g0098 |
2 | 68 | 0.0294 | -20 | c.194 others(39): Show |
VKORC1L1 | ENSG00000196715.7 | transcript | ENST00000360768.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
VMP1_chr17_59702654_59847255 | 59777812 | TCAAAACA others(13): Show |
T | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 135 | 0.0074 | -20 | c.714 others(37): Show |
VMP1 | ENSG00000062716.13 | transcript | ENST00000262291.9 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
VMP1_chr17_59702654_59847255 | 59809484 | ATTTTTTT others(13): Show |
A | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 27 | 0.0370 | -20 | c.795 others(35): Show |
VMP1 | ENSG00000062716.13 | transcript | ENST00000262291.9 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
VNN2_chr6_132738870_132762904 | 132758019 | TTCTTCTT others(13): Show |
T | upstream_gene_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 359 | 0.0028 | -20 | c.-15 others(29): Show |
VNN2 | ENSG00000112303.14 | transcript | ENST00000326499.11 | protein_coding | 116 | chr6 | TogoVar | |||||||
VOPP1_chr7_55465613_55577502 | 55505651 | AAGGGAGG others(13): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(37): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0014 others(37): Show |
40 | 58 | 0.6897 | -20 | c.114 others(37): Show |
VOPP1 | ENSG00000154978.13 | transcript | ENST00000285279.10 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
VOPP1_chr7_55465613_55577502 | 55516922 | ATATATAT others(13): Show |
A | intron_variant | MODIFIER | HG02809.hp1 HG03516.hp1 NA18522.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0265 a0001c0001t0007g0312 a0001c0001t0007g0313 others(1): Show |
4 | 311 | 0.0129 | -20 | c.113 others(37): Show |
VOPP1 | ENSG00000154978.13 | transcript | ENST00000285279.10 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
VOPP1_chr7_55465613_55577502 | 55540398 | AAAATAAA others(13): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG03942.hp2 NA19078.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0002g0263 |
3 | 85 | 0.0353 | -20 | c.55- others(37): Show |
VOPP1 | ENSG00000154978.13 | transcript | ENST00000285279.10 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
VPREB3_chr22_23747743_23759425 | 23755652 | CTCGCCAG others(13): Show |
C | upstream_gene_variant | MODIFIER | NA18987.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023 | 1 | 432 | 0.0023 | -20 | c.-13 others(31): Show |
VPREB3 | ENSG00000128218.8 | transcript | ENST00000248948.4 | protein_coding | 1228 | chr22 | TogoVar | |||||||
VPS13A_chr9_77172534_77426537 | 77392723 | CACTATAT others(13): Show |
C | intron_variant | MODIFIER | HG02647.hp2 NA18989.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0049a0001c0002t0001 | a0001c0001t0049g0184 a0001c0002t0001g0309 |
2 | 344 | 0.0058 | -20 | c.919 others(41): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 68/71 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
VPS13A_chr9_77172534_77426537 | 77399167 | TAAAAAAA others(13): Show |
T | intron_variant | MODIFIER | HG02809.hp1 HG02896.hp2 HG02897.hp2 others(3): Show |
a0001 | a0001c0007a0001c0013a0001c0030 | a0001c0007t0021a0001c0013t0017a0001c0030t0017 | a0001c0007t0021g0001 a0001c0013t0017g0197 a0001c0013t0017g0198 others(2): Show |
6 | 271 | 0.0221 | -20 | c.919 others(39): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 68/71 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99360118 | TTATCTTT others(13): Show |
T | intron_variant | MODIFIER | HG01243.hp1 | a0010 | a0010c0025 | a0010c0025t0010 | a0010c0025t0010g0108 | 1 | 121 | 0.0083 | -20 | c.282 others(41): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99540045 | ATATATAT others(13): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG03130.hp1 |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0010t0005 | a0001c0001t0001g0116 a0001c0010t0005g0048 |
2 | 128 | 0.0156 | -20 | c.474 others(41): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 30/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99540053 | ATATATAT others(13): Show |
A | intron_variant | MODIFIER | HG01884.hp2 | a0011 | a0011c0034 | a0011c0034t0001 | a0011c0034t0001g0063 | 1 | 128 | 0.0078 | -20 | c.474 others(41): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 30/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99640049 | GAGAAAAG others(13): Show |
G | intron_variant | MODIFIER | HG02300.hp1 HG03041.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0061 a0001c0002t0001g0005 |
2 | 71 | 0.0282 | -20 | c.522 others(39): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 33/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13C_chr15_61847389_62065447 | 61858317 | ACTATCTA others(13): Show |
A | intron_variant | MODIFIER | HG02258.hp1 | a0013 | a0013c0016 | a0013c0016t0010 | a0013c0016t0010g0009 | 1 | 105 | 0.0095 | -20 | c.109 others(41): Show |
VPS13C | ENSG00000129003.19 | transcript | ENST00000644861.2 | protein_coding | 82/84 | chr15 | TogoVar | |||||||
VPS13C_chr15_61847389_62065447 | 61858344 | ATCTATCT others(13): Show |
A | intron_variant | MODIFIER | HG02976.hp2 | a0012 | a0012c0011 | a0012c0011t0014 | a0012c0011t0014g0189 | 1 | 350 | 0.0029 | -20 | c.109 others(41): Show |
VPS13C | ENSG00000129003.19 | transcript | ENST00000644861.2 | protein_coding | 82/84 | chr15 | TogoVar | |||||||
VPS13C_chr15_61847389_62065447 | 61961394 | AACACACA others(13): Show |
A | intron_variant | MODIFIER | HG00597.hp2 HG01081.hp2 HG01257.hp1 others(71): Show |
a0003a0004a0008others(4): Show | a0003c0003a0003c0013a0003c0023others(6): Show | a0003c0003t0001a0003c0003t0006a0003c0013t0001others(8): Show | a0003c0003t0001g0001 a0003c0003t0001g0028 a0003c0003t0001g0109 others(69): Show |
74 | 171 | 0.4327 | -20 | c.390 others(37): Show |
VPS13C | ENSG00000129003.19 | transcript | ENST00000644861.2 | protein_coding | 35/84 | chr15 | TogoVar | |||||||
VPS13D_chr1_12225030_12517047 | 12285929 | CTTCCTTT others(13): Show |
C | intron_variant | MODIFIER | HG01256.hp2 HG02965.hp1 HG03225.hp2 |
a0001a0011 | a0001c0001a0011c0023 | a0001c0001t0001a0001c0001t0012a0011c0023t0002 | a0001c0001t0001g0037 a0001c0001t0012g0119 a0011c0023t0002g0036 |
3 | 90 | 0.0333 | -20 | c.563 others(39): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12285975 | TTCCTTTC others(13): Show |
T | intron_variant | MODIFIER | HG02965.hp2 NA18906.hp1 NA19010.hp2 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0005a0001c0003t0016 | a0001c0003t0001g0058 a0001c0003t0005g0050 a0001c0003t0016g0063 |
3 | 151 | 0.0199 | -20 | c.563 others(39): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12381922 | TTTTCTTT others(13): Show |
T | intron_variant | MODIFIER | HG02622.hp1 HG02895.hp2 |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0002a0003c0007t0007 | a0001c0001t0002g0140 a0003c0007t0007g0151 |
2 | 80 | 0.0250 | -20 | c.111 others(40): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12400958 | GCGCGCAC others(13): Show |
G | intron_variant | MODIFIER | NA19057.hp1 NA19068.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0027 | a0001c0002t0002g0029 a0001c0002t0027g0031 |
2 | 133 | 0.0150 | -20 | c.117 others(39): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 61/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS16_chr20_2835745_2871732 | 2840178 | CCGCGCAT others(13): Show |
C | upstream_gene_variant | MODIFIER | HG01243.hp1 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0258 a0001c0001t0001g0259 |
2 | 406 | 0.0049 | -20 | c.-59 others(29): Show |
VPS16 | ENSG00000215305.10 | transcript | ENST00000380445.8 | protein_coding | 566 | chr20 | TogoVar | |||||||
VPS29_chr12_110486083_110507111 | 110492599 | TTTTATTT others(13): Show |
T | intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 34 | 0.0294 | -20 | c.431 others(35): Show |
VPS29 | ENSG00000111237.19 | transcript | ENST00000549578.6 | protein_coding | 3/3 | chr12 | TogoVar | |||||||
VPS35L_chr16_19550703_19706163 | 19570834 | CATATATA others(13): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG01071.hp2 others(17): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0149 others(17): Show |
20 | 38 | 0.5263 | -20 | c.285 others(37): Show |
VPS35L | ENSG00000103544.17 | transcript | ENST00000417362.7 | protein_coding | 3/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VPS35L_chr16_19550703_19706163 | 19673551 | TTTATTCC others(13): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG00621.hp2 HG00733.hp2 others(40): Show |
a0001a0002a0004 | a0001c0002a0001c0007a0002c0014others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0007t0001others(3): Show | a0001c0002t0001g0002 a0001c0002t0001g0012 a0001c0002t0001g0014 others(40): Show |
43 | 282 | 0.1525 | -20 | c.236 others(39): Show |
VPS35L | ENSG00000103544.17 | transcript | ENST00000417362.7 | protein_coding | 27/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VPS35L_chr16_19550703_19706163 | 19679468 | ATTATTTA others(13): Show |
A | intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0012 | 1 | 85 | 0.0118 | -20 | c.236 others(39): Show |
VPS35L | ENSG00000103544.17 | transcript | ENST00000417362.7 | protein_coding | 27/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VPS37A_chr8_17241958_17303024 | 17297714 | AGATATTT others(13): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00558.hp2 others(41): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0004a0001c0001t0021a0001c0001t0034others(2): Show | a0001c0001t0004g0003 a0001c0001t0004g0020 a0001c0001t0004g0021 others(35): Show |
44 | 382 | 0.1152 | -20 | c.*27 others(31): Show |
VPS37A | ENSG00000155975.10 | transcript | ENST00000324849.9 | protein_coding | 12/12 | 11308 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
VPS39_chr15_42153701_42213304 | 42179575 | CAATAAAT others(13): Show |
C | intron_variant | MODIFIER | HG02622.hp2 HG03130.hp1 NA18522.hp1 |
a0001 | a0001c0005a0001c0010 | a0001c0005t0007a0001c0010t0007 | a0001c0005t0007g0035 a0001c0005t0007g0036 a0001c0010t0007g0037 |
3 | 75 | 0.0400 | -20 | c.719 others(37): Show |
VPS39 | ENSG00000166887.16 | transcript | ENST00000318006.10 | protein_coding | 8/24 | chr15 | TogoVar |