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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
VMP1_chr17_59702654_59847255 | 59794517 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG01256.hp2 HG01981.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0139 a0001c0001t0001g0175 a0001c0001t0001g0220 others(4): Show |
7 | 13 | 0.5385 | -8 | c.715 others(27): Show |
VMP1 | ENSG00000062716.13 | transcript | ENST00000262291.9 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
VMP1_chr17_59702654_59847255 | 59809484 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02615.hp1 HG02630.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 others(7): Show |
10 | 36 | 0.2778 | -8 | c.795 others(23): Show |
VMP1 | ENSG00000062716.13 | transcript | ENST00000262291.9 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
VMP1_chr17_59702654_59847255 | 59817246 | CCTGGGCA others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(178): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(178): Show |
181 | 284 | 0.6373 | -8 | c.913 others(23): Show |
VMP1 | ENSG00000062716.13 | transcript | ENST00000262291.9 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
VN1R4_chr19_53261676_53272723 | 53268125 | GACACACA others(1): Show |
G | upstream_gene_variant | MODIFIER | HG00544.hp1 HG01167.hp2 HG01175.hp1 others(22): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0000 a0002c0002t0001g0000 a0003c0003t0001g0000 |
25 | 67 | 0.3731 | -8 | c.-46 others(17): Show |
VN1R4 | ENSG00000228567.3 | transcript | ENST00000311170.5 | protein_coding | 403 | chr19 | TogoVar | |||||||
VOPP1_chr7_55465613_55577502 | 55482482 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(56): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0009 | a0001c0001t0002g0001 a0001c0001t0002g0010 a0001c0001t0002g0012 others(55): Show |
59 | 277 | 0.2130 | -8 | c.329 others(25): Show |
VOPP1 | ENSG00000154978.13 | transcript | ENST00000285279.10 | protein_coding | 4/4 | chr7 | TogoVar | |||||||
VOPP1_chr7_55465613_55577502 | 55505651 | AAGGGAGG others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(82): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0019 a0001c0001t0001g0068 others(82): Show |
85 | 103 | 0.8252 | -8 | c.114 others(25): Show |
VOPP1 | ENSG00000154978.13 | transcript | ENST00000285279.10 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
VOPP1_chr7_55465613_55577502 | 55516905 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG02723.hp2 HG03471.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0004 | a0001c0001t0001g0128 a0001c0001t0001g0134 a0001c0001t0001g0143 others(10): Show |
13 | 284 | 0.0458 | -8 | c.113 others(25): Show |
VOPP1 | ENSG00000154978.13 | transcript | ENST00000285279.10 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
VOPP1_chr7_55465613_55577502 | 55539899 | GCACACAC others(1): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG01261.hp1 HG01433.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0063 a0001c0001t0001g0064 others(6): Show |
10 | 50 | 0.2000 | -8 | c.55- others(25): Show |
VOPP1 | ENSG00000154978.13 | transcript | ENST00000285279.10 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
VOPP1_chr7_55465613_55577502 | 55540398 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG01433.hp2 HG02572.hp2 HG02647.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0004 | a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 others(8): Show |
11 | 93 | 0.1183 | -8 | c.55- others(25): Show |
VOPP1 | ENSG00000154978.13 | transcript | ENST00000285279.10 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
VOPP1_chr7_55465613_55577502 | 55553756 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp2 others(65): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0021 a0001c0001t0001g0063 others(64): Show |
68 | 72 | 0.9444 | -8 | c.54+ others(25): Show |
VOPP1 | ENSG00000154978.13 | transcript | ENST00000285279.10 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
VPREB3_chr22_23747743_23759425 | 23749348 | CAAAAAAA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(41): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0001a0002c0002t0001a0004c0005t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(6): Show |
44 | 132 | 0.3333 | -8 | c.*35 others(19): Show |
VPREB3 | ENSG00000128218.8 | transcript | ENST00000248948.4 | protein_coding | 3394 | chr22 | TogoVar | |||||||
VPS11_chr11_119062818_119086972 | 119066563 | TAAAAAAA others(1): Show |
T | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02145.hp1 HG02258.hp2 others(4): Show |
a0002 | a0002c0006a0002c0008a0002c0019 | a0002c0006t0002a0002c0008t0002a0002c0019t0002 | a0002c0006t0002g0123 a0002c0006t0002g0124 a0002c0006t0002g0126 others(4): Show |
7 | 269 | 0.0260 | -8 | c.-12 others(19): Show |
VPS11 | ENSG00000160695.16 | transcript | ENST00000621676.5 | protein_coding | 1254 | chr11 | TogoVar | |||||||
VPS11_chr11_119062818_119086972 | 119086692 | TATACACA others(1): Show |
T | downstream_gene_variant | MODIFIER | HG01069.hp2 HG01106.hp2 HG01517.hp1 others(4): Show |
a0001a0008 | a0001c0001a0008c0032 | a0001c0001t0001a0008c0032t0001 | a0001c0001t0001g0027 a0001c0001t0001g0045 a0001c0001t0001g0162 others(4): Show |
7 | 354 | 0.0198 | -8 | c.*50 others(19): Show |
VPS11 | ENSG00000160695.16 | transcript | ENST00000621676.5 | protein_coding | 4721 | chr11 | TogoVar | |||||||
VPS13A_chr9_77172534_77426537 | 77207213 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02717.hp2 HG02976.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0136 a0001c0001t0007g0131 a0001c0001t0007g0140 others(1): Show |
4 | 147 | 0.0272 | -8 | c.385 others(25): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 5/71 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
VPS13A_chr9_77172534_77426537 | 77401329 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG02004.hp1 HG02074.hp2 HG02165.hp1 others(34): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0023others(9): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0016others(16): Show | a0001c0001t0002g0130 a0001c0001t0002g0183 a0001c0001t0003g0087 others(34): Show |
37 | 93 | 0.3978 | -8 | c.919 others(27): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 68/71 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99044853 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00609.hp1 others(38): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0016others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0061 a0001c0001t0001g0084 a0001c0001t0001g0113 others(38): Show |
41 | 52 | 0.7885 | -8 | c.291 others(25): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 3/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99128386 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02976.hp1 others(3): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0007a0004c0023others(2): Show | a0001c0001t0001a0001c0001t0002a0003c0007t0005others(3): Show | a0001c0001t0001g0061 a0001c0001t0002g0069 a0003c0007t0005g0049 others(3): Show |
6 | 7 | 0.8571 | -8 | c.120 others(27): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 8/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99250664 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG01106.hp1 HG01884.hp2 HG01981.hp2 others(6): Show |
a0001a0003a0011others(1): Show | a0001c0001a0003c0004a0003c0006others(3): Show | a0001c0001t0001a0003c0004t0001a0003c0006t0004others(3): Show | a0001c0001t0001g0107 a0003c0004t0001g0066 a0003c0004t0001g0090 others(6): Show |
9 | 23 | 0.3913 | -8 | c.251 others(29): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 17/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99287224 | ATCTGTCT others(1): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00423.hp2 others(25): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0002c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0061 a0001c0001t0001g0073 a0001c0001t0001g0084 others(25): Show |
28 | 132 | 0.2121 | -8 | c.282 others(29): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99287228 | GTCTGTCT others(1): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG01978.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0027 a0001c0002t0002g0001 |
2 | 90 | 0.0222 | -8 | c.282 others(29): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99287232 | GTCTATCT others(1): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(17): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0001c0008others(7): Show | a0001c0001t0002a0001c0002t0001a0001c0008t0005others(7): Show | a0001c0001t0002g0018 a0001c0001t0002g0033 a0001c0001t0002g0043 others(17): Show |
20 | 81 | 0.2469 | -8 | c.282 others(29): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99289032 | TATGAATG others(1): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02895.hp1 HG02922.hp1 others(1): Show |
a0003 | a0003c0005 | a0003c0005t0004a0003c0005t0006 | a0003c0005t0004g0130 a0003c0005t0004g0132 a0003c0005t0006g0129 others(1): Show |
4 | 54 | 0.0741 | -8 | c.282 others(29): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99326452 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG00741.hp2 others(4): Show |
a0001a0003a0010 | a0001c0001a0001c0002a0003c0033others(1): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0002t0001g0047 others(4): Show |
7 | 40 | 0.1750 | -8 | c.282 others(29): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99360120 | ATCTTTCT others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG01515.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0113 a0001c0001t0002g0043 a0001c0001t0002g0053 others(4): Show |
7 | 100 | 0.0700 | -8 | c.282 others(29): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99360204 | CTCTCTCT others(1): Show |
C | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0003a0015 | a0003c0033a0015c0032 | a0003c0033t0006a0015c0032t0006 | a0003c0033t0006g0134 a0015c0032t0006g0133 |
2 | 132 | 0.0152 | -8 | c.282 others(29): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99360208 | CTCTTTCT others(1): Show |
C | intron_variant | MODIFIER | HG02965.hp1 NA19058.hp1 NA19066.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0004a0002c0003t0003a0002c0003t0008 | a0001c0001t0004g0091 a0002c0003t0003g0111 a0002c0003t0008g0071 |
3 | 120 | 0.0250 | -8 | c.282 others(29): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99360240 | CTCCTTCC others(1): Show |
C | intron_variant | MODIFIER | HG01106.hp1 HG01981.hp2 HG02895.hp2 others(3): Show |
a0003a0015a0021 | a0003c0006a0003c0033a0015c0032others(1): Show | a0003c0006t0004a0003c0033t0006a0015c0032t0006others(1): Show | a0003c0006t0004g0109 a0003c0006t0004g0127 a0003c0006t0004g0128 others(3): Show |
6 | 108 | 0.0556 | -8 | c.282 others(29): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99418455 | TTTTCTTT others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp1 others(24): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0035others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(11): Show | a0001c0001t0001g0081 a0001c0001t0002g0032 a0001c0001t0002g0040 others(24): Show |
27 | 75 | 0.3600 | -8 | c.308 others(29): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 21/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99448121 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG02895.hp2 others(2): Show |
a0003a0004a0015others(1): Show | a0003c0033a0004c0022a0004c0023others(2): Show | a0003c0033t0006a0004c0022t0004a0004c0023t0005others(2): Show | a0003c0033t0006g0134 a0004c0022t0004g0122 a0004c0023t0005g0106 others(2): Show |
5 | 53 | 0.0943 | -8 | c.344 others(27): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 23/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99498426 | GATGAGTT others(1): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(59): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0008others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(23): Show | a0001c0001t0001g0107 a0001c0001t0002g0018 a0001c0001t0002g0021 others(59): Show |
62 | 132 | 0.4697 | -8 | c.387 others(27): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 25/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99580984 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG01433.hp1 HG02273.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0081 a0001c0001t0002g0115 |
2 | 19 | 0.1053 | -8 | c.522 others(27): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 33/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99640046 | GAAGAGAA others(1): Show |
G | intron_variant | MODIFIER | HG02300.hp2 HG02965.hp1 NA19004.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0003a0002c0003t0008 | a0001c0001t0002g0044 a0001c0001t0002g0070 a0002c0003t0003g0111 others(1): Show |
4 | 125 | 0.0320 | -8 | c.522 others(27): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 33/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99647395 | CTACAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG01256.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0016 a0001c0002t0002g0011 |
2 | 132 | 0.0152 | -8 | c.590 others(27): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 34/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99691247 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02895.hp2 HG02897.hp1 |
a0003a0010a0015 | a0003c0033a0010c0025a0015c0032 | a0003c0033t0006a0010c0025t0010a0015c0032t0006 | a0003c0033t0006g0134 a0010c0025t0010g0108 a0015c0032t0006g0133 |
3 | 87 | 0.0345 | -8 | c.604 others(27): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 35/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99821103 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG01891.hp2 others(7): Show |
a0001a0003a0012others(1): Show | a0001c0001a0001c0002a0001c0016others(4): Show | a0001c0001t0002a0001c0002t0001a0001c0016t0004others(4): Show | a0001c0001t0002g0044 a0001c0001t0002g0069 a0001c0002t0001g0039 others(7): Show |
10 | 24 | 0.4167 | -8 | c.899 others(25): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 49/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13C_chr15_61847389_62065447 | 61858317 | ACTATCTA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00438.hp1 others(125): Show |
a0001a0002a0003others(17): Show | a0001c0001a0002c0002a0002c0045others(20): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(31): Show | a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0276 others(125): Show |
128 | 232 | 0.5517 | -8 | c.109 others(29): Show |
VPS13C | ENSG00000129003.19 | transcript | ENST00000644861.2 | protein_coding | 82/84 | chr15 | TogoVar | |||||||
VPS13C_chr15_61847389_62065447 | 61961394 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG01346.hp2 others(7): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(2): Show | a0001c0001t0003a0002c0002t0001a0004c0004t0001others(2): Show | a0001c0001t0003g0304 a0002c0002t0001g0058 a0002c0002t0001g0066 others(7): Show |
10 | 107 | 0.0935 | -8 | c.390 others(25): Show |
VPS13C | ENSG00000129003.19 | transcript | ENST00000644861.2 | protein_coding | 35/84 | chr15 | TogoVar | |||||||
VPS13D_chr1_12225030_12517047 | 12227125 | TCAAACAA others(1): Show |
T | upstream_gene_variant | MODIFIER | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(9): Show |
a0001a0006 | a0001c0002a0001c0006a0001c0008others(1): Show | a0001c0002t0001a0001c0006t0003a0001c0006t0010others(2): Show | a0001c0002t0001g0006 a0001c0006t0003g0004 a0001c0006t0003g0007 others(9): Show |
12 | 150 | 0.0800 | -8 | c.-30 others(19): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 2904 | chr1 | TogoVar | |||||||
VPS13D_chr1_12225030_12517047 | 12310857 | TTCCTTCC others(1): Show |
T | intron_variant | MODIFIER | HG01106.hp1 HG01256.hp2 HG02004.hp1 others(4): Show |
a0001a0002a0018 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0012a0001c0001t0015a0001c0002t0004others(3): Show | a0001c0001t0012g0119 a0001c0001t0012g0121 a0001c0001t0015g0069 others(4): Show |
7 | 116 | 0.0603 | -8 | c.665 others(25): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 27/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12381922 | TTTTCTTT others(1): Show |
T | intron_variant | MODIFIER | HG01106.hp2 HG02004.hp1 NA18971.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0012a0001c0002t0002others(1): Show | a0001c0001t0001g0085 a0001c0001t0001g0109 a0001c0001t0001g0110 others(3): Show |
6 | 84 | 0.0714 | -8 | c.111 others(28): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12400962 | GCACACAC others(1): Show |
G | intron_variant | MODIFIER | HG01361.hp2 HG01928.hp2 HG01993.hp2 others(3): Show |
a0001a0004a0008 | a0001c0001a0001c0021a0004c0031others(1): Show | a0001c0001t0006a0001c0021t0013a0004c0031t0014others(1): Show | a0001c0001t0006g0130 a0001c0001t0006g0131 a0001c0001t0006g0138 others(3): Show |
6 | 59 | 0.1017 | -8 | c.117 others(27): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 61/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12456636 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
a0001a0006 | a0001c0001a0001c0006a0001c0008others(1): Show | a0001c0001t0010a0001c0006t0003a0001c0006t0010others(2): Show | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(10): Show |
13 | 22 | 0.5909 | -8 | c.124 others(27): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 66/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS18_chr15_40889450_40908975 | 40902092 | ATTTCTTT others(1): Show |
A | intron_variant | MODIFIER | HG00673.hp2 HG01496.hp1 HG01884.hp1 others(33): Show |
a0001 | a0001c0001a0001c0017 | a0001c0001t0001a0001c0001t0003a0001c0017t0001 | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0030 others(8): Show |
36 | 401 | 0.0898 | -8 | c.219 others(25): Show |
VPS18 | ENSG00000104142.11 | transcript | ENST00000220509.10 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
VPS26A_chr10_69119178_69179412 | 69160127 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00423.hp2 others(19): Show |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0014 | a0001c0002t0006g0004 a0001c0002t0006g0023 a0001c0002t0006g0276 others(15): Show |
22 | 72 | 0.3056 | -8 | c.551 others(25): Show |
VPS26A | ENSG00000122958.15 | transcript | ENST00000263559.11 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VPS26A_chr10_69119178_69179412 | 69165837 | TTGGGAGG others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(115): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(2): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0012 others(96): Show |
118 | 334 | 0.3533 | -8 | c.659 others(23): Show |
VPS26A | ENSG00000122958.15 | transcript | ENST00000263559.11 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VPS26A_chr10_69119178_69179412 | 69176449 | CAAAAAAC others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00423.hp2 others(22): Show |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0014 | a0001c0002t0006g0004 a0001c0002t0006g0023 a0001c0002t0006g0276 others(18): Show |
25 | 334 | 0.0749 | -8 | c.*51 others(19): Show |
VPS26A | ENSG00000122958.15 | transcript | ENST00000263559.11 | protein_coding | 2038 | chr10 | TogoVar | |||||||
VPS26C_chr21_37218422_37272334 | 37235851 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG02015.hp1 HG02293.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0158 a0001c0001t0001g0243 a0001c0001t0001g0244 others(8): Show |
11 | 248 | 0.0444 | -8 | c.352 others(25): Show |
VPS26C | ENSG00000157538.14 | transcript | ENST00000309117.11 | protein_coding | 3/7 | chr21 | TogoVar | |||||||
VPS28_chr8_144418617_144433548 | 144426486 | AGCTCCAC others(1): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG01891.hp1 others(7): Show |
a0001a0002 | a0001c0003a0001c0004a0002c0005 | a0001c0003t0001a0001c0003t0006a0001c0004t0001others(1): Show | a0001c0003t0001g0011 a0001c0003t0001g0054 a0001c0003t0006g0042 others(2): Show |
10 | 406 | 0.0246 | -8 | c.38- others(21): Show |
VPS28 | ENSG00000160948.14 | transcript | ENST00000292510.6 | protein_coding | 2/9 | chr8 | TogoVar | |||||||
VPS29_chr12_110486083_110507111 | 110492599 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(71): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0015 others(23): Show |
74 | 107 | 0.6916 | -8 | c.431 others(23): Show |
VPS29 | ENSG00000111237.19 | transcript | ENST00000549578.6 | protein_coding | 3/3 | chr12 | TogoVar | |||||||
VPS33A_chr12_122224564_122271494 | 122231742 | TTTCTTCT others(1): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02258.hp2 HG02451.hp1 HG02717.hp1 others(8): Show |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0004a0003c0008t0004 | a0001c0001t0004g0005 a0001c0001t0004g0238 a0001c0001t0004g0239 others(6): Show |
11 | 344 | 0.0320 | -8 | c.*49 others(17): Show |
VPS33A | ENSG00000139719.11 | transcript | ENST00000267199.9 | protein_coding | 13/13 | 496 | chr12 | TogoVar |