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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
VAV3_chr1_107566161_107970180 | 107575015 | GCACACGC others(8): Show |
G | intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0063 | 1 | 208 | 0.0048 | -15 | c.235 others(32): Show |
VAV3 | ENSG00000134215.16 | transcript | ENST00000370056.9 | protein_coding | 25/26 | chr1 | TogoVar | |||||||
VAV3_chr1_107566161_107970180 | 107749544 | TCACCTTT others(8): Show |
T | disruptive_inframe_deletion | MODERATE | HG03516.hp1 | a0009 | a0009c0015 | a0009c0015t0013 | a0009c0015t0013g0041 | 1 | 208 | 0.0048 | -15 | c.129 others(24): Show |
p.Cys others(19): Show |
VAV3 | ENSG00000134215.16 | transcript | ENST00000370056.9 | protein_coding | 14/27 | 1620/5025 | 1295/2544 | 432/847 | chr1 | TogoVar | |||
VAV3_chr1_107566161_107970180 | 107884405 | TTTATTAT others(8): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00673.hp2 others(28): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0003others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(20): Show | a0001c0001t0002g0182 a0001c0001t0003g0074 a0001c0001t0004g0092 others(28): Show |
31 | 40 | 0.7750 | -15 | c.205 others(32): Show |
VAV3 | ENSG00000134215.16 | transcript | ENST00000370056.9 | protein_coding | 1/26 | chr1 | TogoVar | |||||||
VCPIP1_chr8_66623487_66672231 | 66650860 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0015 | 1 | 161 | 0.0062 | -15 | c.279 others(32): Show |
VCPIP1 | ENSG00000175073.8 | transcript | ENST00000310421.5 | protein_coding | 2/2 | chr8 | TogoVar | |||||||
VEGFC_chr4_176678538_176797922 | 176795319 | AAACACAC others(8): Show |
A | upstream_gene_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 210 | 0.0048 | -15 | c.-30 others(26): Show |
VEGFC | ENSG00000150630.4 | transcript | ENST00000618562.2 | protein_coding | 2398 | chr4 | TogoVar | |||||||
VEGFD_chrX_15340596_15389413 | 15351027 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0080 | 1 | 89 | 0.0112 | -15 | c.742 others(32): Show |
VEGFD | ENSG00000165197.5 | transcript | ENST00000297904.4 | protein_coding | 5/6 | chrX | TogoVar | |||||||
VENTX_chr10_133232855_133246928 | 133236571 | GCCCGCCT others(8): Show |
G | upstream_gene_variant | MODIFIER | NA18957.hp1 | a0013 | a0013c0016 | a0013c0016t0013 | a0013c0016t0013g0004 | 1 | 426 | 0.0023 | -15 | c.-13 others(26): Show |
VENTX | ENSG00000151650.8 | transcript | ENST00000325980.10 | protein_coding | 1283 | chr10 | TogoVar | |||||||
VEPH1_chr3_157254742_157508416 | 157272416 | TTTCTTTC others(8): Show |
T | intron_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0272 | 1 | 302 | 0.0033 | -15 | c.212 others(34): Show |
VEPH1 | ENSG00000197415.12 | transcript | ENST00000362010.7 | protein_coding | 12/13 | chr3 | TogoVar | |||||||
VEZT_chr12_95212807_95307799 | 95225761 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02965.hp1 HG03540.hp2 HG06807.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 others(1): Show |
4 | 239 | 0.0167 | -15 | c.36+ others(30): Show |
VEZT | ENSG00000028203.19 | transcript | ENST00000436874.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
VEZT_chr12_95212807_95307799 | 95225779 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00621.hp2 HG01070.hp2 others(48): Show |
a0001a0003a0009 | a0001c0001a0003c0004a0009c0015 | a0001c0001t0001a0003c0004t0001a0009c0015t0001 | a0001c0001t0001g0004 a0001c0001t0001g0022 a0001c0001t0001g0023 others(45): Show |
51 | 424 | 0.1203 | -15 | c.36+ others(30): Show |
VEZT | ENSG00000028203.19 | transcript | ENST00000436874.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
VGLL1_chrX_136527215_136561799 | 136532571 | ATATTTCT others(8): Show |
A | intron_variant | MODIFIER | NA19089.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 257 | 0.0039 | -15 | c.-26 others(30): Show |
VGLL1 | ENSG00000102243.13 | transcript | ENST00000370634.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
VGLL1_chrX_136527215_136561799 | 136532578 | TTTCTTTC others(8): Show |
T | intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 257 | 0.0039 | -15 | c.-26 others(30): Show |
VGLL1 | ENSG00000102243.13 | transcript | ENST00000370634.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
VGLL1_chrX_136527215_136561799 | 136532649 | CTTTCTTT others(8): Show |
C | intron_variant | MODIFIER | HG02683.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 a0001c0001t0001g0101 |
2 | 252 | 0.0079 | -15 | c.-26 others(30): Show |
VGLL1 | ENSG00000102243.13 | transcript | ENST00000370634.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
VGLL3_chr3_86932973_86996149 | 86995574 | ATAATATA others(8): Show |
A | upstream_gene_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0085 | 1 | 368 | 0.0027 | -15 | c.-48 others(26): Show |
VGLL3 | ENSG00000206538.9 | transcript | ENST00000398399.7 | protein_coding | 4426 | chr3 | TogoVar | |||||||
VHLL_chr1_156293624_156304307 | 156296568 | AAAAAAAA others(8): Show |
A | downstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 386 | 0.0026 | -15 | c.*21 others(26): Show |
VHLL | ENSG00000189030.10 | transcript | ENST00000339922.5 | protein_coding | 2055 | chr1 | TogoVar | |||||||
VIPAS39_chr14_77421675_77462601 | 77442979 | TGCTCTGA others(8): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG02451.hp2 HG02572.hp2 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0007 | a0001c0002t0001g0011 a0001c0002t0001g0028 a0001c0002t0001g0029 others(7): Show |
12 | 242 | 0.0496 | -15 | c.631 others(30): Show |
VIPAS39 | ENSG00000151445.16 | transcript | ENST00000557658.6 | protein_coding | 9/19 | chr14 | TogoVar | |||||||
VIPR2_chr7_159023175_159149867 | 159062666 | AGCAGCAA others(8): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(86): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(19): Show | a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 others(85): Show |
89 | 334 | 0.2665 | -15 | c.358 others(32): Show |
VIPR2 | ENSG00000106018.14 | transcript | ENST00000262178.7 | protein_coding | 4/12 | chr7 | TogoVar | |||||||
VIP_chr6_152745797_152764760 | 152762453 | AATAGTCA others(8): Show |
A | downstream_gene_variant | MODIFIER | HG02809.hp2 HG03041.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 a0001c0001t0002g0057 a0001c0001t0002g0060 |
3 | 430 | 0.0070 | -15 | c.*35 others(26): Show |
VIP | ENSG00000146469.13 | transcript | ENST00000367244.8 | protein_coding | 2694 | chr6 | TogoVar | |||||||
VIT_chr2_36691707_36819794 | 36703909 | GTTTTTTT others(8): Show |
G | intron_variant | MODIFIER | HG00597.hp2 HG01433.hp2 HG01517.hp1 others(9): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0002others(3): Show | a0001c0001t0001g0118 a0001c0001t0001g0145 a0001c0001t0001g0146 others(9): Show |
12 | 324 | 0.0370 | -15 | c.-19 others(32): Show |
VIT | ENSG00000205221.13 | transcript | ENST00000379242.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VKORC1L1_chr7_65868074_65964558 | 65895469 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 348 | 0.0029 | -15 | c.194 others(34): Show |
VKORC1L1 | ENSG00000196715.7 | transcript | ENST00000360768.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
VKORC1L1_chr7_65868074_65964558 | 65895475 | AAAAAAAT others(8): Show |
A | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0221 | 1 | 338 | 0.0030 | -15 | c.194 others(34): Show |
VKORC1L1 | ENSG00000196715.7 | transcript | ENST00000360768.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
VKORC1L1_chr7_65868074_65964558 | 65895477 | AAAAATAT others(8): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG02622.hp1 HG03098.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0024 others(4): Show |
7 | 338 | 0.0207 | -15 | c.194 others(34): Show |
VKORC1L1 | ENSG00000196715.7 | transcript | ENST00000360768.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
VKORC1L1_chr7_65868074_65964558 | 65895479 | AAATATAT others(8): Show |
A | intron_variant | MODIFIER | HG02559.hp1 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 a0001c0001t0001g0023 |
2 | 317 | 0.0063 | -15 | c.194 others(34): Show |
VKORC1L1 | ENSG00000196715.7 | transcript | ENST00000360768.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
VKORC1L1_chr7_65868074_65964558 | 65895481 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | NA18950.hp1 NA18975.hp2 NA18985.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0299 a0001c0001t0005g0303 a0001c0001t0005g0309 others(1): Show |
4 | 286 | 0.0140 | -15 | c.194 others(34): Show |
VKORC1L1 | ENSG00000196715.7 | transcript | ENST00000360768.5 | protein_coding | 1/2 | chr7 | TogoVar | |||||||
VKORC1L1_chr7_65868074_65964558 | 65957908 | TACAGAGT others(8): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00642.hp2 HG00735.hp2 HG01257.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0016a0001c0001t0024others(1): Show | a0001c0001t0006g0013 a0001c0001t0006g0014 a0001c0001t0006g0318 others(20): Show |
23 | 348 | 0.0661 | -15 | c.*36 others(26): Show |
VKORC1L1 | ENSG00000196715.7 | transcript | ENST00000360768.5 | protein_coding | 3/3 | 3609 | chr7 | TogoVar | ||||||
VLDLR_chr9_2616787_2665056 | 2656942 | CAAAAAAA others(8): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02257.hp2 HG02622.hp1 HG02976.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004a0001c0006 | a0001c0001t0121a0001c0004t0087a0001c0006t0026 | a0001c0001t0121g0167 a0001c0004t0087g0318 a0001c0006t0026g0012 |
5 | 76 | 0.0658 | -15 | c.*30 others(26): Show |
VLDLR | ENSG00000147852.17 | transcript | ENST00000382100.8 | protein_coding | 19/19 | 3088 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
VMP1_chr17_59702654_59847255 | 59777812 | TCAAAACA others(8): Show |
T | intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 135 | 0.0074 | -15 | c.714 others(32): Show |
VMP1 | ENSG00000062716.13 | transcript | ENST00000262291.9 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
VN1R1_chr19_57449790_57462140 | 57460984 | GTGGTGTT others(8): Show |
G | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00597.hp1 HG00733.hp2 others(96): Show |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0004g0000 others(3): Show |
99 | 427 | 0.2319 | -15 | c.-45 others(26): Show |
VN1R1 | ENSG00000178201.5 | transcript | ENST00000321039.5 | protein_coding | 3845 | chr19 | TogoVar | |||||||
VNN1_chr6_132675849_132719055 | 132677572 | AAAAAAAA others(8): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00609.hp1 HG01109.hp2 others(31): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0004a0001c0001t0007a0002c0002t0004others(5): Show | a0001c0001t0004g0203 a0001c0001t0004g0204 a0001c0001t0007g0044 others(19): Show |
34 | 416 | 0.0817 | -15 | c.*55 others(26): Show |
VNN1 | ENSG00000112299.8 | transcript | ENST00000367928.5 | protein_coding | 3276 | chr6 | TogoVar | |||||||
VNN2_chr6_132738870_132762904 | 132758000 | TTTCTTCT others(8): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00741.hp2 HG01261.hp1 others(26): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0001g0025 others(10): Show |
29 | 305 | 0.0951 | -15 | c.-13 others(24): Show |
VNN2 | ENSG00000112303.14 | transcript | ENST00000326499.11 | protein_coding | 97 | chr6 | TogoVar | |||||||
VNN2_chr6_132738870_132762904 | 132758961 | TCTCCTTC others(8): Show |
T | upstream_gene_variant | MODIFIER | HG02145.hp2 HG02622.hp2 HG03098.hp2 others(2): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0035 a0002c0004t0001g0063 a0002c0004t0001g0064 others(1): Show |
5 | 433 | 0.0115 | -15 | c.-10 others(26): Show |
VNN2 | ENSG00000112303.14 | transcript | ENST00000326499.11 | protein_coding | 1058 | chr6 | TogoVar | |||||||
VOPP1_chr7_55465613_55577502 | 55505673 | GGGAGGGA others(8): Show |
G | intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0112 | 1 | 316 | 0.0032 | -15 | c.114 others(32): Show |
VOPP1 | ENSG00000154978.13 | transcript | ENST00000285279.10 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
VOPP1_chr7_55465613_55577502 | 55516928 | ATATATTT others(8): Show |
A | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0062 | 1 | 283 | 0.0035 | -15 | c.113 others(32): Show |
VOPP1 | ENSG00000154978.13 | transcript | ENST00000285279.10 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
VOPP1_chr7_55465613_55577502 | 55525789 | TAAAAAAA others(8): Show |
T | intron_variant | MODIFIER | NA19001.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0182 | 1 | 20 | 0.0500 | -15 | c.55- others(30): Show |
VOPP1 | ENSG00000154978.13 | transcript | ENST00000285279.10 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
VOPP1_chr7_55465613_55577502 | 55552021 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp2 others(71): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0069 a0001c0001t0001g0070 others(70): Show |
74 | 220 | 0.3364 | -15 | c.54+ others(32): Show |
VOPP1 | ENSG00000154978.13 | transcript | ENST00000285279.10 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
VPS13A_chr9_77172534_77426537 | 77399167 | TAAAAAAA others(8): Show |
T | intron_variant | MODIFIER | HG02717.hp1 HG02809.hp2 NA19030.hp2 |
a0001 | a0001c0001a0001c0022a0001c0028 | a0001c0001t0016a0001c0022t0022a0001c0028t0050 | a0001c0001t0016g0164 a0001c0022t0022g0007 a0001c0028t0050g0148 |
3 | 268 | 0.0112 | -15 | c.919 others(34): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 68/71 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99271195 | AACTACTA others(8): Show |
A | intron_variant | MODIFIER | HG01106.hp1 HG03834.hp2 |
a0003 | a0003c0006 | a0003c0006t0004 | a0003c0006t0004g0109 a0003c0006t0004g0128 |
2 | 60 | 0.0333 | -15 | c.251 others(34): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 17/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99540044 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0069 | 1 | 132 | 0.0076 | -15 | c.474 others(36): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 30/61 | chr8 | TogoVar | |||||||
VPS13B_chr8_99008274_99882580 | 99540048 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG01433.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0081 a0001c0002t0001g0047 |
2 | 131 | 0.0153 | -15 | c.474 others(36): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 30/61 | chr8 | TogoVar | |||||||
VPS13B_chr8_99008274_99882580 | 99540049 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG01496.hp1 HG01981.hp2 others(2): Show |
a0001a0002a0003 | a0001c0001a0001c0020a0002c0003others(1): Show | a0001c0001t0002a0001c0001t0011a0001c0020t0002others(2): Show | a0001c0001t0002g0070 a0001c0001t0011g0092 a0001c0020t0002g0082 others(2): Show |
5 | 121 | 0.0413 | -15 | c.474 others(36): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 30/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99540051 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | NA18952.hp2 NA19078.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0072 a0001c0001t0004g0118 |
2 | 128 | 0.0156 | -15 | c.474 others(36): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 30/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99639985 | GTAATAAT others(8): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG01106.hp2 HG01496.hp1 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0002a0002c0003a0003c0004others(1): Show | a0001c0002t0001a0002c0003t0003a0003c0004t0001others(1): Show | a0001c0002t0001g0005 a0001c0002t0001g0030 a0002c0003t0003g0057 others(4): Show |
7 | 78 | 0.0897 | -15 | c.522 others(34): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 33/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99640049 | GAGAAAAG others(8): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG01106.hp2 HG03139.hp2 others(1): Show |
a0001a0003a0006others(1): Show | a0001c0002a0003c0004a0006c0027others(1): Show | a0001c0002t0001a0003c0004t0001a0006c0027t0001others(1): Show | a0001c0002t0001g0030 a0003c0004t0001g0065 a0006c0027t0001g0019 others(1): Show |
4 | 73 | 0.0548 | -15 | c.522 others(34): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 33/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99733832 | GCTTTTTA others(8): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp1 |
a0004 | a0004c0022a0004c0023 | a0004c0022t0004a0004c0023t0005 | a0004c0022t0004g0122 a0004c0023t0005g0106 |
2 | 132 | 0.0152 | -15 | c.705 others(36): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 39/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99737106 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG03139.hp2 HG03195.hp1 |
a0002a0004a0017 | a0002c0003a0004c0022a0017c0031 | a0002c0003t0003a0004c0022t0004a0017c0031t0006 | a0002c0003t0003g0059 a0004c0022t0004g0122 a0017c0031t0006g0054 |
3 | 19 | 0.1579 | -15 | c.705 others(36): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 39/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99828392 | CCGTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG01515.hp1 HG01515.hp2 HG01517.hp1 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0009a0002c0003t0007 | a0001c0002t0009g0045 a0002c0003t0007g0017 a0002c0003t0007g0028 |
3 | 49 | 0.0612 | -15 | c.933 others(34): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 51/61 | chr8 | TogoVar | |||||||
VPS13C_chr15_61847389_62065447 | 62037444 | AAATAAAT others(8): Show |
A | intron_variant | MODIFIER | NA18747.hp1 NA18968.hp2 NA18973.hp1 others(3): Show |
a0005a0039 | a0005c0005a0039c0053 | a0005c0005t0004a0039c0053t0004 | a0005c0005t0004g0201 a0005c0005t0004g0202 a0005c0005t0004g0203 others(3): Show |
6 | 346 | 0.0173 | -15 | c.188 others(32): Show |
VPS13C | ENSG00000129003.19 | transcript | ENST00000644861.2 | protein_coding | 3/84 | chr15 | TogoVar | |||||||
VPS13D_chr1_12225030_12517047 | 12285929 | CTTCCTTT others(8): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG02004.hp1 HG02004.hp2 others(4): Show |
a0001 | a0001c0001a0001c0009a0001c0014 | a0001c0001t0001a0001c0001t0006a0001c0001t0010others(3): Show | a0001c0001t0001g0123 a0001c0001t0001g0145 a0001c0001t0006g0130 others(4): Show |
7 | 94 | 0.0745 | -15 | c.563 others(34): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12285980 | TTCCTTTC others(8): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG01256.hp1 others(29): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0009a0001c0002t0002others(9): Show | a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0064 others(29): Show |
32 | 151 | 0.2119 | -15 | c.563 others(34): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12352965 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 19 | 0.0526 | -15 | c.943 others(32): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |