| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| USP50_chr15_50495562_50551666 | 50525656 | G | GTATATAT others(43): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0007 | a0007c0008 | a0007c0008t0003 | a0007c0008t0003g0241 | 1 | 384 | 0.0026 | 50 | c.936 others(67): Show |
USP50 | ENSG00000170236.16 | transcript | ENST00000532404.6 | protein_coding | 6/6 | chr15 | TogoVar | ||||||
| USP50_chr15_50495562_50551666 | 50537896 | G | GAGGGGAG others(43): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00597.hp2 HG01175.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073a0001c0001t0001g0082a0001c0001t0001g0088others(14): Show | 17 | 384 | 0.0443 | 50 | c.803 others(65): Show |
USP50 | ENSG00000170236.16 | transcript | ENST00000532404.6 | protein_coding | 5/6 | chr15 | TogoVar | ||||||
| USP50_chr15_50495562_50551666 | 50537896 | G | GAGGGGAG others(43): Show |
intron_variant | MODIFIER | HG02683.hp1 HG02683.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140a0001c0001t0001g0141 | 2 | 384 | 0.0052 | 50 | c.803 others(65): Show |
USP50 | ENSG00000170236.16 | transcript | ENST00000532404.6 | protein_coding | 5/6 | chr15 | TogoVar | ||||||
| USP50_chr15_50495562_50551666 | 50537906 | G | GAGGGGAG others(43): Show |
intron_variant | MODIFIER | HG00639.hp2 HG04204.hp1 NA18948.hp2 others(3): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0005c0005t0001 | a0001c0001t0001g0021a0001c0001t0001g0074a0001c0001t0001g0146others(3): Show | 6 | 384 | 0.0156 | 50 | c.803 others(65): Show |
USP50 | ENSG00000170236.16 | transcript | ENST00000532404.6 | protein_coding | 5/6 | chr15 | TogoVar | ||||||
| USP53_chr4_119207713_119300518 | 119213660 | A | ATATATAT others(43): Show |
intron_variant | MODIFIER | HG03490.hp2 HG03492.hp2 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0018a0001c0001t0015g0210 | 3 | 380 | 0.0079 | 50 | c.-94 others(67): Show |
USP53 | ENSG00000145390.12 | transcript | ENST00000692078.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| USP53_chr4_119207713_119300518 | 119213660 | A | ATATATAT others(43): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0235 | 1 | 380 | 0.0026 | 50 | c.-94 others(67): Show |
USP53 | ENSG00000145390.12 | transcript | ENST00000692078.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| UTRN_chr6_144280335_144858034 | 144360064 | T | TCCCTTCC others(43): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0008 | a0008c0040 | a0008c0040t0003 | a0008c0040t0003g0128 | 1 | 128 | 0.0078 | 50 | c.80- others(67): Show |
UTRN | ENSG00000152818.20 | transcript | ENST00000367545.8 | protein_coding | 2/74 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| VAMP1_chr12_6457237_6475677 | 6465388 | A | ATATATAT others(43): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01255.hp1 HG02602.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0024 | 3 | 446 | 0.0067 | 50 | c.289 others(65): Show |
VAMP1 | ENSG00000139190.17 | transcript | ENST00000396308.4 | protein_coding | 3/4 | chr12 | TogoVar | ||||||
| VAMP2_chr17_8154149_8167948 | 8163058 | G | GGCGGGGC others(43): Show |
upstream_gene_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 414 | 0.0024 | 50 | c.-18 others(59): Show |
VAMP2 | ENSG00000220205.10 | transcript | ENST00000316509.11 | protein_coding | 111 | chr17 | TogoVar | ||||||
| VAV1_chr19_6767708_6862361 | 6816536 | G | GACACACA others(43): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02280.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0015a0001c0001t0001g0047a0001c0001t0001g0082others(6): Show | 9 | 306 | 0.0294 | 50 | c.205 others(67): Show |
VAV1 | ENSG00000141968.8 | transcript | ENST00000602142.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| VAX2_chr2_70895576_70938446 | 70937122 | G | GAGCCAGA others(43): Show |
downstream_gene_variant | MODIFIER | NA18947.hp2 NA18966.hp2 NA19011.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010a0001c0001t0002g0101a0001c0001t0002g0107 | 4 | 426 | 0.0094 | 50 | c.*39 others(61): Show |
VAX2 | ENSG00000116035.4 | transcript | ENST00000234392.3 | protein_coding | 3677 | chr2 | TogoVar | ||||||
| VCPIP1_chr8_66623487_66672231 | 66638970 | C | CTCTCTCT others(43): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0219 | 1 | 258 | 0.0039 | 50 | c.279 others(69): Show |
VCPIP1 | ENSG00000175073.8 | transcript | ENST00000310421.5 | protein_coding | 2/2 | chr8 | TogoVar | ||||||
| VCX3B_chrX_8459830_8471510 | 8466642 | A | AGGGAGGA others(43): Show |
downstream_gene_variant | MODIFIER | NA19080.hp1 | a0005 | a0005c0010 | a0005c0010t0003 | a0005c0010t0003g0041 | 1 | 271 | 0.0037 | 50 | c.*25 others(59): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 133 | chrX | TogoVar | ||||||
| VCX3B_chrX_8459830_8471510 | 8467312 | A | AGGGGGGA others(43): Show |
downstream_gene_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 271 | 0.0037 | 50 | c.*92 others(59): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 803 | chrX | TogoVar | ||||||
| VCX_chrX_7838171_7849143 | 7844565 | A | AAGAGGAG others(43): Show |
downstream_gene_variant | MODIFIER | NA18955.hp1 | a0023 | a0023c0022 | a0023c0022t0007 | a0023c0022t0007g0001 | 1 | 341 | 0.0029 | 50 | c.*54 others(59): Show |
VCX | ENSG00000182583.13 | transcript | ENST00000688183.1 | protein_coding | 423 | chrX | TogoVar | ||||||
| VEPH1_chr3_157254742_157508416 | 157304038 | T | TATATATA others(43): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0137 | 1 | 304 | 0.0033 | 50 | c.201 others(69): Show |
VEPH1 | ENSG00000197415.12 | transcript | ENST00000362010.7 | protein_coding | 11/13 | chr3 | TogoVar | ||||||
| VNN2_chr6_132738870_132762904 | 132750497 | G | GTGTATGT others(43): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01081.hp2 HG01361.hp2 others(10): Show |
a0001a0003 | a0001c0002a0003c0008 | a0001c0002t0001a0001c0002t0003a0003c0008t0001 | a0001c0002t0001g0007a0001c0002t0001g0153a0001c0002t0001g0165others(2): Show | 13 | 436 | 0.0298 | 50 | c.120 others(67): Show |
VNN2 | ENSG00000112303.14 | transcript | ENST00000326499.11 | protein_coding | 5/6 | chr6 | TogoVar | ||||||
| VNN2_chr6_132738870_132762904 | 132750497 | G | GTGTATGT others(43): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01256.hp2 NA20905.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0050a0001c0002t0001g0159 | 3 | 436 | 0.0069 | 50 | c.120 others(67): Show |
VNN2 | ENSG00000112303.14 | transcript | ENST00000326499.11 | protein_coding | 5/6 | chr6 | TogoVar | ||||||
| VPS13A_chr9_77172534_77426537 | 77207237 | A | ATATATAT others(43): Show |
intron_variant | MODIFIER | HG02165.hp1 NA19005.hp1 |
a0001a0003 | a0001c0002a0003c0010 | a0001c0002t0001a0003c0010t0003 | a0001c0002t0001g0271a0003c0010t0003g0265 | 2 | 348 | 0.0058 | 50 | c.385 others(67): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 5/71 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| VPS13A_chr9_77172534_77426537 | 77207237 | A | ATATATAT others(43): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0187 | 1 | 348 | 0.0029 | 50 | c.385 others(67): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 5/71 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| VPS13A_chr9_77172534_77426537 | 77207239 | A | ATATATAT others(43): Show |
intron_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0309 | 1 | 348 | 0.0029 | 50 | c.385 others(67): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 5/71 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| VPS13B_chr8_99008274_99882580 | 99497079 | T | TATATATA others(43): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00597.hp1 NA18950.hp1 others(2): Show |
a0001a0016 | a0001c0001a0001c0002a0016c0017 | a0001c0001t0002a0001c0002t0001a0016c0017t0001 | a0001c0001t0002g0041a0001c0002t0001g0010a0001c0002t0001g0015others(2): Show | 5 | 134 | 0.0373 | 50 | c.387 others(69): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 25/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| VPS16_chr20_2835745_2871732 | 2865370 | C | CAACACCT others(43): Show |
frameshift_variant others(1): Show |
HIGH | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0348 | 1 | 408 | 0.0025 | 50 | c.217 others(62): Show |
p.Ala others(5): Show |
VPS16 | ENSG00000215305.10 | transcript | ENST00000380445.8 | protein_coding | 22/24 | 2227/2708 | 2197/2520 | 733/839 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |
| VPS53_chr17_503668_719839 | 617920 | G | GTTTCCCG others(43): Show |
intron_variant | MODIFIER | HG02109.hp1 NA21309.hp2 |
a0003 | a0003c0004 | a0003c0004t0003a0003c0004t0081 | a0003c0004t0003g0036a0003c0004t0081g0035 | 2 | 232 | 0.0086 | 50 | c.111 others(69): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 11/21 | chr17 | TogoVar | ||||||
| VPS53_chr17_503668_719839 | 618020 | A | ATTTCCCG others(43): Show |
intron_variant | MODIFIER | HG01928.hp1 HG02040.hp1 HG02056.hp1 others(2): Show |
a0002 | a0002c0003 | a0002c0003t0009a0002c0003t0027 | a0002c0003t0009g0185a0002c0003t0009g0186a0002c0003t0009g0218others(2): Show | 5 | 232 | 0.0216 | 50 | c.111 others(69): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 11/21 | chr17 | TogoVar | ||||||
| VPS53_chr17_503668_719839 | 618120 | A | ATTTCCCG others(43): Show |
intron_variant | MODIFIER | HG01928.hp1 HG02040.hp1 HG02056.hp1 others(2): Show |
a0002 | a0002c0003 | a0002c0003t0009a0002c0003t0027 | a0002c0003t0009g0185a0002c0003t0009g0186a0002c0003t0009g0218others(2): Show | 5 | 232 | 0.0216 | 50 | c.111 others(69): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 11/21 | chr17 | TogoVar | ||||||
| VPS53_chr17_503668_719839 | 618405 | C | CACGCCCC others(43): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00741.hp2 HG01081.hp2 others(45): Show |
a0001a0006 | a0001c0001a0001c0007a0006c0012 | a0001c0001t0002a0001c0001t0011a0001c0001t0015others(28): Show | a0001c0001t0002g0121a0001c0001t0002g0128a0001c0001t0002g0133others(45): Show | 48 | 232 | 0.2069 | 50 | c.111 others(69): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 11/21 | chr17 | TogoVar | ||||||
| VPS53_chr17_503668_719839 | 619566 | A | ATGCACCA others(43): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01106.hp2 HG01109.hp1 others(23): Show |
a0001a0002a0007 | a0001c0001a0002c0003a0002c0010others(1): Show | a0001c0001t0017a0001c0001t0028a0001c0001t0029others(19): Show | a0001c0001t0017g0158a0001c0001t0028g0196a0001c0001t0028g0197others(23): Show | 26 | 232 | 0.1121 | 50 | c.111 others(69): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 11/21 | chr17 | TogoVar | ||||||
| VPS53_chr17_503668_719839 | 619590 | T | TTTCCCGG others(43): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0002 | a0002c0003 | a0002c0003t0145 | a0002c0003t0145g0187 | 1 | 232 | 0.0043 | 50 | c.111 others(69): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 11/21 | chr17 | TogoVar | ||||||
| VPS53_chr17_503668_719839 | 619666 | G | GTGCACCA others(43): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(49): Show |
a0001a0002a0004others(1): Show | a0001c0002a0001c0014a0001c0015others(3): Show | a0001c0002t0017a0001c0002t0035a0001c0002t0038others(41): Show | a0001c0002t0017g0225a0001c0002t0035g0219a0001c0002t0038g0224others(49): Show | 52 | 232 | 0.2241 | 50 | c.111 others(69): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 11/21 | chr17 | TogoVar | ||||||
| VPS53_chr17_503668_719839 | 619670 | A | ACCACCAC others(43): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0101a0001c0001t0102 | a0001c0001t0101g0200a0001c0001t0102g0220 | 2 | 232 | 0.0086 | 50 | c.111 others(69): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 11/21 | chr17 | TogoVar | ||||||
| VPS53_chr17_503668_719839 | 619920 | G | GCCACCAC others(43): Show |
intron_variant | MODIFIER | HG01517.hp2 NA18747.hp2 |
a0001 | a0001c0002a0001c0007 | a0001c0002t0001a0001c0007t0011 | a0001c0002t0001g0094a0001c0007t0011g0105 | 2 | 232 | 0.0086 | 50 | c.111 others(69): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 11/21 | chr17 | TogoVar | ||||||
| VPS54_chr2_63887150_64024428 | 63970244 | T | TATATATA others(43): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG01358.hp1 others(9): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0006others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0005others(3): Show | a0001c0001t0001g0263a0002c0002t0001g0123a0002c0002t0001g0128others(9): Show | 12 | 304 | 0.0395 | 50 | c.458 others(67): Show |
VPS54 | ENSG00000143952.20 | transcript | ENST00000272322.9 | protein_coding | 4/22 | chr2 | TogoVar | ||||||
| VPS8_chr3_184807166_185057604 | 184940270 | T | TTATATAT others(43): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0004 | a0004c0003 | a0004c0003t0003 | a0004c0003t0003g0033 | 1 | 274 | 0.0037 | 50 | c.303 others(65): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 36/47 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| VSIG1_chrX_108040065_108084184 | 108047831 | C | CATATATA others(43): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 281 | 0.0036 | 50 | c.49+ others(65): Show |
VSIG1 | ENSG00000101842.14 | transcript | ENST00000217957.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| VSIG4_chrX_66016738_66045080 | 66037272 | T | TAATATAA others(43): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 218 | 0.0046 | 50 | c.55+ others(65): Show |
VSIG4 | ENSG00000155659.15 | transcript | ENST00000374737.9 | protein_coding | 1/7 | chrX | TogoVar | ||||||
| VSX2_chr14_74234449_74267738 | 74244929 | T | TGAGAGAG others(43): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 422 | 0.0024 | 50 | c.456 others(65): Show |
VSX2 | ENSG00000119614.3 | transcript | ENST00000261980.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| VTI1A_chr10_112442215_112823744 | 112733773 | A | ATTTTATT others(43): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0112 | 1 | 168 | 0.0060 | 50 | c.560 others(69): Show |
VTI1A | ENSG00000151532.15 | transcript | ENST00000393077.3 | protein_coding | 7/7 | chr10 | TogoVar | ||||||
| VTN_chr17_28362284_28375307 | 28364776 | A | AGTAAGGA others(43): Show |
downstream_gene_variant | MODIFIER | NA18979.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0002 | 1 | 390 | 0.0026 | 50 | c.*25 others(61): Show |
VTN | ENSG00000109072.14 | transcript | ENST00000226218.9 | protein_coding | 2507 | chr17 | TogoVar | ||||||
| VWA8_chr13_41561835_41966109 | 41784701 | T | TACATATA others(43): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225 | 1 | 250 | 0.0040 | 50 | c.217 others(67): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 18/44 | chr13 | TogoVar | ||||||
| VWA8_chr13_41561835_41966109 | 41959663 | A | AGTGGCTC others(43): Show |
intron_variant | MODIFIER | NA18992.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0011 | 1 | 250 | 0.0040 | 50 | c.163 others(67): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 1/44 | chr13 | TogoVar | ||||||
| VWF_chr12_5943877_6129670 | 6092616 | A | AGTGAGTG others(43): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0014 | a0014c0056 | a0014c0056t0001 | a0014c0056t0001g0042 | 1 | 288 | 0.0035 | 50 | c.657 others(67): Show |
VWF | ENSG00000110799.14 | transcript | ENST00000261405.10 | protein_coding | 6/51 | chr12 | TogoVar | ||||||
| VWF_chr12_5943877_6129670 | 6092618 | A | AGTGAGAG others(43): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0002 | a0002c0011 | a0002c0011t0001 | a0002c0011t0001g0148 | 1 | 288 | 0.0035 | 50 | c.657 others(67): Show |
VWF | ENSG00000110799.14 | transcript | ENST00000261405.10 | protein_coding | 6/51 | chr12 | TogoVar | ||||||
| WASF2_chr1_27399230_27495167 | 27487644 | T | TTATATAT others(43): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0067 | 1 | 260 | 0.0039 | 50 | c.-44 others(67): Show |
WASF2 | ENSG00000158195.11 | transcript | ENST00000618852.5 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
| WASF3_chr13_26552683_26693948 | 26554125 | T | TTCTTTCT others(43): Show |
upstream_gene_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 294 | 0.0034 | 50 | c.-38 others(61): Show |
WASF3 | ENSG00000132970.14 | transcript | ENST00000335327.6 | protein_coding | 3557 | chr13 | TogoVar | ||||||
| WASF3_chr13_26552683_26693948 | 26559810 | T | TTCTTTCT others(43): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0002 | a0001c0002t0030 | a0001c0002t0030g0232 | 1 | 294 | 0.0034 | 50 | c.-10 others(69): Show |
WASF3 | ENSG00000132970.14 | transcript | ENST00000335327.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| WASHC2C_chr10_45722266_45797964 | 45784269 | T | TATATATA others(43): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0337 | 1 | 380 | 0.0026 | 50 | c.247 others(67): Show |
WASHC2C | ENSG00000172661.20 | transcript | ENST00000623400.4 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| WBP2NL_chr22_41993788_42033475 | 42008088 | C | CTTCCTTT others(43): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02630.hp1 NA18970.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0171a0001c0001t0001g0254a0001c0001t0001g0255others(3): Show | 6 | 388 | 0.0155 | 50 | c.62+ others(65): Show |
WBP2NL | ENSG00000183066.14 | transcript | ENST00000328823.13 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| WBP2NL_chr22_41993788_42033475 | 42008106 | C | CCTTTCCT others(43): Show |
intron_variant | MODIFIER | HG02559.hp2 NA18950.hp1 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0002 | a0001c0001t0001g0189a0004c0004t0002g0347 | 2 | 388 | 0.0052 | 50 | c.62+ others(65): Show |
WBP2NL | ENSG00000183066.14 | transcript | ENST00000328823.13 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| WBP2NL_chr22_41993788_42033475 | 42008111 | C | CCTTTCCT others(43): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0342 | 1 | 388 | 0.0026 | 50 | c.62+ others(65): Show |
WBP2NL | ENSG00000183066.14 | transcript | ENST00000328823.13 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar |