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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
VPS13A_chr9_77172534_77426537 | 77387147 | AGAC | A | intron_variant | MODIFIER | NA18952.hp1 NA18998.hp1 NA19091.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0014a0001c0002t0045 | a0001c0002t0001g0258 a0001c0002t0014g0262 a0001c0002t0045g0263 |
3 | 346 | 0.0087 | -3 | c.918 others(22): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 68/71 | chr9 | TogoVar | |||||||
VPS13A_chr9_77172534_77426537 | 77399167 | TAAA | T | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(39): Show |
a0001a0009a0012others(1): Show | a0001c0001a0001c0003a0001c0036others(4): Show | a0001c0001t0018a0001c0003t0001a0001c0003t0003others(8): Show | a0001c0001t0018g0044 a0001c0003t0001g0235 a0001c0003t0003g0217 others(39): Show |
42 | 307 | 0.1368 | -3 | c.919 others(22): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 68/71 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
VPS13A_chr9_77172534_77426537 | 77400223 | ATTT | A | intron_variant | MODIFIER | HG00639.hp2 HG01070.hp1 HG01071.hp2 others(28): Show |
a0001a0007 | a0001c0005a0001c0006a0001c0013others(5): Show | a0001c0005t0005a0001c0005t0031a0001c0006t0005others(7): Show | a0001c0005t0005g0016 a0001c0005t0005g0017 a0001c0005t0005g0025 others(28): Show |
31 | 154 | 0.2013 | -3 | c.919 others(22): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 68/71 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
VPS13A_chr9_77172534_77426537 | 77411660 | CAAA | C | intron_variant | MODIFIER | HG01255.hp2 HG01884.hp1 HG02280.hp1 others(3): Show |
a0001 | a0001c0008a0001c0038 | a0001c0008t0010a0001c0038t0010 | a0001c0008t0010g0191 a0001c0008t0010g0192 a0001c0008t0010g0193 others(3): Show |
6 | 92 | 0.0652 | -3 | c.947 others(22): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 71/71 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
VPS13A_chr9_77172534_77426537 | 77414739 | TTAA | T | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG00741.hp1 others(78): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0003a0001c0005others(18): Show | a0001c0001t0003a0001c0001t0029a0001c0003t0003others(27): Show | a0001c0001t0003g0087 a0001c0001t0003g0257 a0001c0001t0003g0267 others(78): Show |
81 | 152 | 0.5329 | -3 | c.947 others(22): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 71/71 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
VPS13A_chr9_77172534_77426537 | 77416278 | AAAG | A | 3_prime_UTR_variant | MODIFIER | HG01109.hp1 HG01175.hp2 HG03471.hp2 |
a0001 | a0001c0014 | a0001c0014t0024a0001c0014t0032 | a0001c0014t0024g0003 a0001c0014t0024g0004 a0001c0014t0032g0006 |
3 | 346 | 0.0087 | -3 | c.*27 others(12): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 72/72 | 277 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
VPS13A_chr9_77172534_77426537 | 77416777 | ACTG | A | 3_prime_UTR_variant | MODIFIER | HG01074.hp1 HG01168.hp2 HG01192.hp2 others(1): Show |
a0001 | a0001c0006 | a0001c0006t0012 | a0001c0006t0012g0002 a0001c0006t0012g0027 a0001c0006t0012g0028 others(1): Show |
4 | 346 | 0.0116 | -3 | c.*77 others(12): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 72/72 | 774 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
VPS13B_chr8_99008274_99882580 | 99027540 | AGTG | A | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(67): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0010others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(21): Show | a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0073 others(67): Show |
70 | 132 | 0.5303 | -3 | c.148 others(22): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 2/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99028522 | ACCC | A | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00423.hp2 others(80): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0002a0001c0010others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(31): Show | a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0073 others(80): Show |
83 | 123 | 0.6748 | -3 | c.148 others(20): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 2/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99127786 | TTTA | T | intron_variant | MODIFIER | HG01243.hp1 HG02895.hp2 HG02897.hp1 |
a0003a0010a0015 | a0003c0033a0010c0025a0015c0032 | a0003c0033t0006a0010c0025t0010a0015c0032t0006 | a0003c0033t0006g0134 a0010c0025t0010g0108 a0015c0032t0006g0133 |
3 | 132 | 0.0227 | -3 | c.120 others(22): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 8/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99128386 | CAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00597.hp1 others(18): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0074 a0001c0001t0001g0113 a0001c0001t0002g0021 others(18): Show |
21 | 22 | 0.9545 | -3 | c.120 others(22): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 8/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99131595 | TTTG | T | intron_variant | MODIFIER | HG01433.hp2 HG01496.hp2 HG01934.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0004 others(3): Show |
6 | 132 | 0.0455 | -3 | c.120 others(22): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 8/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99158393 | TGTG | T | intron_variant | MODIFIER | HG00642.hp2 HG01256.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0016 a0001c0002t0002g0011 |
2 | 132 | 0.0152 | -3 | c.220 others(22): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 15/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99190824 | TTTC | T | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG02976.hp1 |
a0004a0016 | a0004c0022a0004c0023a0016c0024 | a0004c0022t0004a0004c0023t0005a0016c0024t0005 | a0004c0022t0004g0122 a0004c0023t0005g0106 a0016c0024t0005g0123 |
3 | 132 | 0.0227 | -3 | c.233 others(22): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 16/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99206175 | CTTG | C | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG02976.hp1 |
a0004a0016 | a0004c0022a0004c0023a0016c0024 | a0004c0022t0004a0004c0023t0005a0016c0024t0005 | a0004c0022t0004g0122 a0004c0023t0005g0106 a0016c0024t0005g0123 |
3 | 132 | 0.0227 | -3 | c.251 others(24): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 17/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99271195 | AACT | A | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(46): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0008others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(17): Show | a0001c0001t0001g0061 a0001c0001t0001g0073 a0001c0001t0001g0074 others(46): Show |
49 | 107 | 0.4579 | -3 | c.251 others(22): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 17/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99299918 | AAAC | A | intron_variant | MODIFIER | NA18950.hp2 NA18952.hp2 NA19004.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0113 a0001c0001t0002g0070 a0001c0001t0002g0072 |
3 | 132 | 0.0227 | -3 | c.282 others(24): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99348865 | TGGA | T | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG02451.hp1 others(1): Show |
a0001a0004a0016 | a0001c0008a0004c0022a0004c0023others(1): Show | a0001c0008t0005a0004c0022t0004a0004c0023t0005others(1): Show | a0001c0008t0005g0125 a0004c0022t0004g0122 a0004c0023t0005g0106 others(1): Show |
4 | 132 | 0.0303 | -3 | c.282 others(24): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99360119 | TATC | T | intron_variant | MODIFIER | HG01243.hp2 HG02965.hp1 HG03139.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0003a0002c0003t0008 | a0001c0001t0001g0064 a0001c0001t0001g0114 a0002c0003t0003g0058 others(1): Show |
4 | 127 | 0.0315 | -3 | c.282 others(24): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 19/61 | chr8 | TogoVar | |||||||
VPS13B_chr8_99008274_99882580 | 99380789 | ATTT | A | intron_variant | MODIFIER | HG01243.hp1 HG02895.hp2 HG02897.hp1 |
a0003a0010a0015 | a0003c0033a0010c0025a0015c0032 | a0003c0033t0006a0010c0025t0010a0015c0032t0006 | a0003c0033t0006g0134 a0010c0025t0010g0108 a0015c0032t0006g0133 |
3 | 132 | 0.0227 | -3 | c.282 others(22): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99419443 | ATCT | A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(44): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0002a0001c0008others(8): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(12): Show | a0001c0001t0002g0018 a0001c0001t0002g0021 a0001c0001t0002g0026 others(44): Show |
47 | 132 | 0.3561 | -3 | c.308 others(24): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 21/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99426736 | CTTT | C | intron_variant | MODIFIER | HG01106.hp1 HG01981.hp2 HG03834.hp2 others(2): Show |
a0001a0003a0021 | a0001c0001a0003c0006a0021c0026 | a0001c0001t0001a0003c0006t0004a0021c0026t0003 | a0001c0001t0001g0107 a0003c0006t0004g0109 a0003c0006t0004g0127 others(2): Show |
5 | 132 | 0.0379 | -3 | c.308 others(22): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 21/61 | chr8 | TogoVar | |||||||
VPS13B_chr8_99008274_99882580 | 99501950 | TGTC | T | intron_variant | MODIFIER | HG01243.hp1 HG02895.hp2 HG02897.hp1 |
a0003a0010a0015 | a0003c0033a0010c0025a0015c0032 | a0003c0033t0006a0010c0025t0010a0015c0032t0006 | a0003c0033t0006g0134 a0010c0025t0010g0108 a0015c0032t0006g0133 |
3 | 132 | 0.0227 | -3 | c.404 others(18): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 26/61 | chr8 | TogoVar | |||||||
VPS13B_chr8_99008274_99882580 | 99515361 | AGCT | A | intron_variant | MODIFIER | HG02145.hp1 HG02895.hp1 HG02922.hp1 others(1): Show |
a0003 | a0003c0005 | a0003c0005t0004a0003c0005t0006 | a0003c0005t0004g0130 a0003c0005t0004g0132 a0003c0005t0006g0129 others(1): Show |
4 | 127 | 0.0315 | -3 | c.463 others(22): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 29/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99531601 | TGTG | T | intron_variant | MODIFIER | HG02145.hp1 HG02895.hp1 HG02922.hp1 others(1): Show |
a0003 | a0003c0005 | a0003c0005t0004a0003c0005t0006 | a0003c0005t0004g0130 a0003c0005t0004g0132 a0003c0005t0006g0129 others(1): Show |
4 | 132 | 0.0303 | -3 | c.474 others(24): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 30/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99541742 | CTTT | C | intron_variant | MODIFIER | HG01243.hp1 HG02895.hp2 HG02897.hp1 |
a0003a0010a0015 | a0003c0033a0010c0025a0015c0032 | a0003c0033t0006a0010c0025t0010a0015c0032t0006 | a0003c0033t0006g0134 a0010c0025t0010g0108 a0015c0032t0006g0133 |
3 | 132 | 0.0227 | -3 | c.474 others(24): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 30/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99568276 | CTAT | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00423.hp1 others(41): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0002a0001c0008others(8): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(11): Show | a0001c0001t0002g0018 a0001c0001t0002g0021 a0001c0001t0002g0026 others(41): Show |
44 | 130 | 0.3385 | -3 | c.495 others(22): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 31/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99620986 | CAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(39): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0002a0001c0008others(8): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(11): Show | a0001c0001t0002g0021 a0001c0001t0002g0026 a0001c0001t0002g0027 others(39): Show |
42 | 109 | 0.3853 | -3 | c.522 others(24): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 33/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99631185 | CTTG | C | intron_variant | MODIFIER | HG01106.hp1 HG01884.hp1 HG01891.hp1 others(4): Show |
a0003a0004a0016others(1): Show | a0003c0006a0004c0022a0004c0023others(2): Show | a0003c0006t0004a0004c0022t0004a0004c0023t0005others(2): Show | a0003c0006t0004g0109 a0003c0006t0004g0127 a0003c0006t0004g0128 others(4): Show |
7 | 132 | 0.0530 | -3 | c.522 others(24): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 33/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99639985 | GTAA | G | intron_variant | MODIFIER | HG00140.hp2 HG00609.hp1 HG00735.hp2 others(13): Show |
a0001a0002a0012others(2): Show | a0001c0001a0001c0002a0002c0018others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0084 a0001c0001t0002g0051 a0001c0001t0002g0053 others(13): Show |
16 | 87 | 0.1839 | -3 | c.522 others(22): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 33/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99654031 | GATT | G | intron_variant | MODIFIER | HG02145.hp1 HG02895.hp1 HG02922.hp1 others(1): Show |
a0003 | a0003c0005 | a0003c0005t0004a0003c0005t0006 | a0003c0005t0004g0130 a0003c0005t0004g0132 a0003c0005t0006g0129 others(1): Show |
4 | 106 | 0.0377 | -3 | c.590 others(22): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 34/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99669298 | GAGA | G | intron_variant | MODIFIER | HG02145.hp1 HG02895.hp1 HG02922.hp1 others(1): Show |
a0003 | a0003c0005 | a0003c0005t0004a0003c0005t0006 | a0003c0005t0004g0130 a0003c0005t0004g0132 a0003c0005t0006g0129 others(1): Show |
4 | 132 | 0.0303 | -3 | c.604 others(22): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 35/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99725324 | CAGA | C | intron_variant | MODIFIER | HG02145.hp1 HG02895.hp1 HG02922.hp1 others(1): Show |
a0003 | a0003c0005 | a0003c0005t0004a0003c0005t0006 | a0003c0005t0004g0130 a0003c0005t0004g0132 a0003c0005t0006g0129 others(1): Show |
4 | 132 | 0.0303 | -3 | c.705 others(22): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 39/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99745875 | TAAC | T | intron_variant | MODIFIER | HG01891.hp2 HG02976.hp2 |
a0001a0012 | a0001c0001a0012c0028 | a0001c0001t0002a0012c0028t0002 | a0001c0001t0002g0069 a0012c0028t0002g0078 |
2 | 132 | 0.0152 | -3 | c.705 others(24): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 39/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99815559 | GAAT | G | intron_variant | MODIFIER | HG01106.hp1 HG01496.hp1 HG01515.hp2 others(14): Show |
a0002a0003a0021 | a0002c0003a0002c0018a0003c0005others(2): Show | a0002c0003t0003a0002c0003t0007a0002c0003t0008others(4): Show | a0002c0003t0003g0058 a0002c0003t0003g0059 a0002c0003t0003g0099 others(14): Show |
17 | 132 | 0.1288 | -3 | c.809 others(22): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 44/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99816106 | CTCT | C | intron_variant | MODIFIER | HG02145.hp1 HG02895.hp2 HG02897.hp1 others(1): Show |
a0003a0015 | a0003c0005a0003c0033a0015c0032 | a0003c0005t0006a0003c0033t0006a0015c0032t0006 | a0003c0005t0006g0129 a0003c0005t0006g0131 a0003c0033t0006g0134 others(1): Show |
4 | 132 | 0.0303 | -3 | c.809 others(22): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 44/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99821102 | AAAC | A | intron_variant | MODIFIER | HG01099.hp1 HG02300.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0009 | a0001c0002t0001g0005 a0001c0002t0009g0015 |
2 | 131 | 0.0153 | -3 | c.899 others(20): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 49/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99828392 | CCGT | C | intron_variant | MODIFIER | HG01243.hp2 NA19003.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0114 a0001c0001t0002g0033 |
2 | 48 | 0.0417 | -3 | c.933 others(22): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 51/61 | chr8 | TogoVar | |||||||
VPS13B_chr8_99008274_99882580 | 99833222 | TAAC | T | intron_variant | MODIFIER | HG00408.hp2 HG01496.hp1 HG01515.hp2 others(15): Show |
a0002a0013a0021 | a0002c0003a0002c0018a0013c0029others(1): Show | a0002c0003t0003a0002c0003t0007a0002c0003t0008others(3): Show | a0002c0003t0003g0024 a0002c0003t0003g0036 a0002c0003t0003g0057 others(15): Show |
18 | 132 | 0.1364 | -3 | c.961 others(20): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 52/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99856881 | TAAA | T | intron_variant | MODIFIER | HG00408.hp2 HG01496.hp1 HG01515.hp2 others(15): Show |
a0002a0013a0021 | a0002c0003a0002c0018a0013c0029others(1): Show | a0002c0003t0003a0002c0003t0007a0002c0003t0008others(3): Show | a0002c0003t0003g0024 a0002c0003t0003g0036 a0002c0003t0003g0057 others(15): Show |
18 | 132 | 0.1364 | -3 | c.108 others(24): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 56/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99876094 | CTAT | C | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(91): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0002a0001c0008others(25): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(31): Show | a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0073 others(91): Show |
94 | 132 | 0.7121 | -3 | c.*43 others(12): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 62/62 | 434 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
VPS13B_chr8_99008274_99882580 | 99876364 | CTGA | C | 3_prime_UTR_variant | MODIFIER | HG00408.hp2 HG00738.hp1 HG01106.hp1 others(38): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0008a0001c0010others(17): Show | a0001c0001t0004a0001c0008t0005a0001c0010t0005others(20): Show | a0001c0001t0004g0091 a0001c0001t0004g0118 a0001c0008t0005g0124 others(38): Show |
41 | 132 | 0.3106 | -3 | c.*70 others(12): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 62/62 | 703 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
VPS13C_chr15_61847389_62065447 | 61872126 | TAAC | T | intron_variant | MODIFIER | HG02258.hp2 HG02723.hp1 HG02818.hp2 others(2): Show |
a0001a0012 | a0001c0001a0012c0011 | a0001c0001t0003a0012c0011t0014a0012c0011t0028 | a0001c0001t0003g0332 a0012c0011t0014g0188 a0012c0011t0014g0189 others(2): Show |
5 | 350 | 0.0143 | -3 | c.105 others(20): Show |
VPS13C | ENSG00000129003.19 | transcript | ENST00000644861.2 | protein_coding | 78/84 | chr15 | TogoVar | |||||||
VPS13C_chr15_61847389_62065447 | 61914878 | TAAA | T | intron_variant | MODIFIER | HG00609.hp1 NA18977.hp1 NA18988.hp2 others(3): Show |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0001a0004c0004t0001a0004c0004t0008 | a0002c0002t0001g0057 a0004c0004t0001g0033 a0004c0004t0001g0037 others(3): Show |
6 | 122 | 0.0492 | -3 | c.844 others(20): Show |
VPS13C | ENSG00000129003.19 | transcript | ENST00000644861.2 | protein_coding | 61/84 | chr15 | TogoVar | |||||||
VPS13C_chr15_61847389_62065447 | 61942633 | TATA | T | intron_variant | MODIFIER | HG01167.hp1 HG02027.hp1 HG02258.hp2 others(19): Show |
a0001a0006a0012others(4): Show | a0001c0001a0006c0006a0006c0017others(7): Show | a0001c0001t0002a0006c0006t0005a0006c0006t0017others(9): Show | a0001c0001t0002g0323 a0006c0006t0005g0209 a0006c0006t0005g0211 others(19): Show |
22 | 350 | 0.0629 | -3 | c.514 others(20): Show |
VPS13C | ENSG00000129003.19 | transcript | ENST00000644861.2 | protein_coding | 45/84 | chr15 | TogoVar | |||||||
VPS13C_chr15_61847389_62065447 | 61970859 | TAAA | T | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG02258.hp1 others(8): Show |
a0002a0005a0008others(2): Show | a0002c0002a0005c0005a0008c0008others(2): Show | a0002c0002t0001a0005c0005t0004a0008c0008t0001others(3): Show | a0002c0002t0001g0050 a0005c0005t0004g0206 a0008c0008t0001g0143 others(8): Show |
11 | 148 | 0.0743 | -3 | c.275 others(22): Show |
VPS13C | ENSG00000129003.19 | transcript | ENST00000644861.2 | protein_coding | 27/84 | chr15 | TogoVar | |||||||
VPS13C_chr15_61847389_62065447 | 61980183 | CAAA | C | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG01070.hp2 others(11): Show |
a0002a0003a0008others(2): Show | a0002c0002a0003c0003a0008c0008others(2): Show | a0002c0002t0001a0002c0002t0011a0002c0002t0012others(5): Show | a0002c0002t0001g0012 a0002c0002t0001g0053 a0002c0002t0001g0096 others(11): Show |
14 | 126 | 0.1111 | -3 | c.216 others(22): Show |
VPS13C | ENSG00000129003.19 | transcript | ENST00000644861.2 | protein_coding | 22/84 | chr15 | TogoVar | |||||||
VPS13C_chr15_61847389_62065447 | 61980481 | TCAC | T | intron_variant | MODIFIER | HG02258.hp2 HG02723.hp1 HG02976.hp2 others(1): Show |
a0012 | a0012c0011 | a0012c0011t0014a0012c0011t0028 | a0012c0011t0014g0188 a0012c0011t0014g0189 a0012c0011t0014g0190 others(1): Show |
4 | 350 | 0.0114 | -3 | c.216 others(20): Show |
VPS13C | ENSG00000129003.19 | transcript | ENST00000644861.2 | protein_coding | 22/84 | chr15 | TogoVar | |||||||
VPS13C_chr15_61847389_62065447 | 61987545 | AATT | A | intron_variant | MODIFIER | HG01070.hp1 HG01175.hp2 HG02004.hp2 others(13): Show |
a0005a0039 | a0005c0005a0039c0053 | a0005c0005t0004a0005c0005t0018a0039c0053t0004 | a0005c0005t0004g0015 a0005c0005t0004g0017 a0005c0005t0004g0018 others(13): Show |
16 | 350 | 0.0457 | -3 | c.157 others(22): Show |
VPS13C | ENSG00000129003.19 | transcript | ENST00000644861.2 | protein_coding | 18/84 | chr15 | TogoVar | |||||||
VPS13C_chr15_61847389_62065447 | 62004022 | ATGC | A | intron_variant | MODIFIER | HG01167.hp1 HG02027.hp1 HG02647.hp2 others(16): Show |
a0001a0006a0024others(4): Show | a0001c0001a0006c0006a0006c0017others(7): Show | a0001c0001t0003a0001c0001t0009a0006c0006t0005others(9): Show | a0001c0001t0003g0210 a0001c0001t0009g0224 a0006c0006t0005g0209 others(16): Show |
19 | 349 | 0.0544 | -3 | c.129 others(22): Show |
VPS13C | ENSG00000129003.19 | transcript | ENST00000644861.2 | protein_coding | 15/84 | chr15 | TogoVar |