| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ITGB1BP1_chr2_9398475_9428528 | 9406423 | T | TTGTCACT others(537): Show |
3_prime_UTR_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0164 | a0001c0001t0164g0168 | 1 | 276 | 0.0036 | 544 | c.*41 others(553): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 410 | chr2 | TogoVar | |||||
| KIF3B_chr20_32272651_32340011 | 32323070 | T | TTATATAC others(537): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01169.hp2 HG02451.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0007 | a0001c0002t0004g0040a0001c0002t0004g0041a0001c0002t0004g0042others(5): Show | 8 | 242 | 0.0331 | 544 | c.174 others(563): Show |
KIF3B | ENSG00000101350.8 | transcript | ENST00000375712.4 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| KLHDC4_chr16_87702812_87770986 | 87739088 | C | CCTCATCC others(537): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0269 | 1 | 380 | 0.0026 | 544 | c.507 others(561): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 5/11 | chr16 | TogoVar | ||||||
| KLHDC4_chr16_87702812_87770986 | 87739088 | C | CCTCATCC others(537): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02615.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0265a0001c0001t0001g0267a0001c0001t0001g0268others(2): Show | 5 | 380 | 0.0132 | 544 | c.507 others(561): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 5/11 | chr16 | TogoVar | ||||||
| LRGUK_chr7_134122340_134269595 | 134190878 | A | AAAGCAGT others(537): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0111 | 1 | 220 | 0.0046 | 544 | c.133 others(561): Show |
LRGUK | ENSG00000155530.4 | transcript | ENST00000285928.3 | protein_coding | 11/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| MAP3K15_chrX_19355059_19520508 | 19477972 | A | AGAGAGAG others(537): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0154 | 1 | 163 | 0.0061 | 544 | c.525 others(561): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 3/28 | chrX | TogoVar | ||||||
| MBD3L3_chr19_7051207_7063676 | 7061804 | A | ATATATAA others(537): Show |
upstream_gene_variant | MODIFIER | HG01358.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0022 | 1 | 288 | 0.0035 | 544 | c.-32 others(555): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 3129 | chr19 | TogoVar | ||||||
| MBD3L3_chr19_7051207_7063676 | 7061838 | T | TATAATAT others(537): Show |
upstream_gene_variant | MODIFIER | NA20805.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0005 | 1 | 288 | 0.0035 | 544 | c.-32 others(555): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 3163 | chr19 | TogoVar | ||||||
| MERTK_chr2_111893607_112034561 | 111944498 | A | AATTCCTT others(537): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG00735.hp1 others(16): Show |
a0001a0002a0004 | a0001c0001a0002c0006a0004c0004 | a0001c0001t0001a0002c0006t0001a0004c0004t0001 | a0001c0001t0001g0094a0001c0001t0001g0095a0001c0001t0001g0096others(16): Show | 19 | 288 | 0.0660 | 544 | c.483 others(559): Show |
MERTK | ENSG00000153208.19 | transcript | ENST00000295408.9 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| MINK1_chr17_4828340_4903061 | 4852769 | T | TGGGGGAG others(537): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp2 others(59): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0002c0010others(1): Show | a0001c0001t0002a0001c0001t0009a0001c0001t0024others(9): Show | a0001c0001t0002g0277a0001c0001t0009g0276a0001c0001t0024g0205others(59): Show | 62 | 360 | 0.1722 | 544 | c.57+ others(561): Show |
MINK1 | ENSG00000141503.17 | transcript | ENST00000355280.11 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| MINK1_chr17_4828340_4903061 | 4852769 | T | TGGGGGAG others(537): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0272 | 1 | 360 | 0.0028 | 544 | c.57+ others(561): Show |
MINK1 | ENSG00000141503.17 | transcript | ENST00000355280.11 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| MINK1_chr17_4828340_4903061 | 4852776 | G | GTGTGGTT others(537): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0317 | 1 | 360 | 0.0028 | 544 | c.57+ others(561): Show |
MINK1 | ENSG00000141503.17 | transcript | ENST00000355280.11 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| MINK1_chr17_4828340_4903061 | 4852802 | G | GTGGGGGA others(537): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0119 | 1 | 360 | 0.0028 | 544 | c.57+ others(561): Show |
MINK1 | ENSG00000141503.17 | transcript | ENST00000355280.11 | protein_coding | 1/31 | chr17 | TogoVar | ||||||
| MSLN_chr16_755734_773862 | 767634 | C | CGCGTGGA others(537): Show |
intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 388 | 0.0026 | 544 | c.159 others(561): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| MTTP_chr4_99569824_99628997 | 99589009 | A | ACATATAT others(537): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0105 | 1 | 364 | 0.0028 | 544 | c.394 others(559): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| MUC4_chr3_195741771_195816929 | 195771122 | G | GGTATTCC others(537): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0098 | a0098c0027 | a0098c0027t0001 | a0098c0027t0001g0199 | 1 | 249 | 0.0040 | 544 | c.132 others(563): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 5/24 | chr3 | TogoVar | ||||||
| MUC4_chr3_195741771_195816929 | 195771122 | G | GGTATTCC others(537): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 NA19004.hp1 |
a0019a0021 | a0019c0014a0021c0097 | a0019c0014t0001a0021c0097t0001 | a0019c0014t0001g0072a0019c0014t0001g0100a0021c0097t0001g0118 | 3 | 249 | 0.0121 | 544 | c.132 others(563): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 5/24 | chr3 | TogoVar | ||||||
| MUC4_chr3_195741771_195816929 | 195771146 | C | CGGGTTGG others(537): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0076 | a0076c0168 | a0076c0168t0001 | a0076c0168t0001g0082 | 1 | 249 | 0.0040 | 544 | c.132 others(563): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 5/24 | chr3 | TogoVar | ||||||
| MUC4_chr3_195741771_195816929 | 195771146 | C | CGGGTTGG others(537): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0101 | a0101c0123 | a0101c0123t0001 | a0101c0123t0001g0183 | 1 | 249 | 0.0040 | 544 | c.132 others(563): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 5/24 | chr3 | TogoVar | ||||||
| MUC4_chr3_195741771_195816929 | 195771146 | C | CGGGTTGG others(537): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00597.hp1 others(17): Show |
a0002a0022a0106others(9): Show | a0002c0002a0002c0098a0002c0099others(13): Show | a0002c0002t0001a0002c0098t0001a0002c0099t0001others(13): Show | a0002c0002t0001g0002a0002c0002t0001g0120a0002c0002t0001g0167others(16): Show | 20 | 249 | 0.0803 | 544 | c.132 others(563): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 5/24 | chr3 | TogoVar | ||||||
| MUC4_chr3_195741771_195816929 | 195771146 | C | CGGGTTGG others(537): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00609.hp2 HG02004.hp1 others(2): Show |
a0124a0125a0126others(2): Show | a0124c0080a0125c0082a0126c0081others(2): Show | a0124c0080t0001a0125c0082t0001a0126c0081t0001others(2): Show | a0124c0080t0001g0201a0125c0082t0001g0200a0126c0081t0001g0202others(2): Show | 5 | 249 | 0.0201 | 544 | c.132 others(563): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 5/24 | chr3 | TogoVar | ||||||
| MYNN_chr3_169768396_169794716 | 169770602 | A | AATATAAA others(537): Show |
upstream_gene_variant | MODIFIER | NA18612.hp2 NA18971.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0047a0001c0002t0002g0052 | 2 | 350 | 0.0057 | 544 | c.-28 others(555): Show |
MYNN | ENSG00000085274.16 | transcript | ENST00000349841.10 | protein_coding | 2793 | chr3 | TogoVar | ||||||
| MYRIP_chr3_39804609_40265321 | 40084517 | G | GTAGATAA others(537): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0049 | 1 | 170 | 0.0059 | 544 | c.332 others(563): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| MYRIP_chr3_39804609_40265321 | 40084643 | C | CGATAGAT others(537): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0002 | a0002c0005 | a0002c0005t0004 | a0002c0005t0004g0169 | 1 | 170 | 0.0059 | 544 | c.332 others(563): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| MYT1L_chr2_1784113_2336275 | 1952717 | T | TCCTTCCT others(537): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0003 | a0001c0003t0025 | a0001c0003t0025g0055 | 1 | 104 | 0.0096 | 544 | c.153 others(561): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 8/24 | chr2 | TogoVar | ||||||
| MYT1L_chr2_1784113_2336275 | 1952717 | T | TCCTTCCT others(537): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00673.hp2 NA18971.hp2 |
a0001 | a0001c0003a0001c0019 | a0001c0003t0001a0001c0019t0002 | a0001c0003t0001g0023a0001c0003t0001g0041a0001c0019t0002g0061 | 3 | 104 | 0.0289 | 544 | c.153 others(561): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 8/24 | chr2 | TogoVar | ||||||
| MYT1L_chr2_1784113_2336275 | 1952717 | T | TCCTTCCT others(537): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0021 | 1 | 104 | 0.0096 | 544 | c.153 others(561): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 8/24 | chr2 | TogoVar | ||||||
| MYT1_chr20_64159452_64247253 | 64176280 | C | CCTGTAGC others(537): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0222 | 1 | 223 | 0.0045 | 544 | c.-99 others(563): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| NEU4_chr2_241804193_241822413 | 241806988 | A | ACCTTCCC others(537): Show |
upstream_gene_variant | MODIFIER | HG01517.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0032 | 1 | 319 | 0.0031 | 544 | c.-22 others(555): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 2204 | chr2 | TogoVar | ||||||
| NGEF_chr2_232873701_233018256 | 232995356 | C | CTGTATAT others(537): Show |
intron_variant | MODIFIER | NA18953.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0350 | 1 | 362 | 0.0028 | 544 | c.-75 others(563): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
| NPEPL1_chr20_58687800_58720844 | 58695018 | T | TGTTGCGT others(537): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 398 | 0.0025 | 544 | c.507 others(559): Show |
NPEPL1 | ENSG00000215440.12 | transcript | ENST00000356091.11 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| NT5DC3_chr12_103767310_103846234 | 103768606 | G | GGAGGGAG others(537): Show |
downstream_gene_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0004 | a0001c0004t0060 | a0001c0004t0060g0341 | 1 | 386 | 0.0026 | 544 | c.*92 others(555): Show |
NT5DC3 | ENSG00000111696.12 | transcript | ENST00000392876.8 | protein_coding | 3703 | chr12 | TogoVar | ||||||
| NXN_chr17_794310_984776 | 841628 | A | AAGCAGGT others(537): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 242 | 0.0041 | 544 | c.361 others(563): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
| OR11H4_chr14_20234286_20249349 | 20237654 | A | ATAGTATA others(537): Show |
upstream_gene_variant | MODIFIER | HG01175.hp2 HG01361.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0052a0001c0001t0002g0192 | 2 | 439 | 0.0046 | 544 | c.-16 others(555): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1631 | chr14 | TogoVar | ||||||
| OR2T6_chr1_248370746_248396811 | 248384550 | G | GAAAGCAC others(537): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02723.hp2 NA20129.hp2 others(1): Show |
a0002 | a0002c0005 | a0002c0005t0013 | a0002c0005t0013g0018 | 4 | 403 | 0.0099 | 544 | c.-15 others(561): Show |
OR2T6 | ENSG00000198104.4 | transcript | ENST00000641644.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| OSGIN1_chr16_83948240_83971332 | 83951890 | T | TCCCTCCC others(537): Show |
upstream_gene_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0160 | 1 | 350 | 0.0029 | 544 | c.-15 others(555): Show |
OSGIN1 | ENSG00000140961.14 | transcript | ENST00000393306.6 | protein_coding | 1349 | chr16 | TogoVar | ||||||
| PALLD_chr4_168492052_168933441 | 168793121 | G | GTGTGTGC others(537): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0064 | 1 | 156 | 0.0064 | 544 | c.196 others(565): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PAX1_chr20_21700664_21723481 | 21721646 | T | TATGTATT others(537): Show |
downstream_gene_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0061 | 1 | 400 | 0.0025 | 544 | c.*70 others(555): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3166 | chr20 | TogoVar | ||||||
| PITPNM1_chr11_67486768_67510363 | 67499572 | T | TCCATCCA others(537): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01069.hp2 HG01071.hp1 others(30): Show |
a0001a0004a0009others(1): Show | a0001c0001a0001c0008a0004c0029others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0008t0001others(3): Show | a0001c0001t0001g0007a0001c0001t0001g0010a0001c0001t0001g0018others(14): Show | 33 | 300 | 0.1100 | 544 | c.117 others(561): Show |
PITPNM1 | ENSG00000110697.13 | transcript | ENST00000356404.8 | protein_coding | 8/23 | chr11 | TogoVar | ||||||
| PITPNM1_chr11_67486768_67510363 | 67499572 | T | TCCATCCA others(537): Show |
intron_variant | MODIFIER | HG03704.hp1 NA18747.hp1 NA19011.hp1 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0028a0002c0003t0001g0060a0002c0003t0001g0061 | 4 | 300 | 0.0133 | 544 | c.117 others(561): Show |
PITPNM1 | ENSG00000110697.13 | transcript | ENST00000356404.8 | protein_coding | 8/23 | chr11 | TogoVar | ||||||
| PITPNM1_chr11_67486768_67510363 | 67499576 | T | TCCATCCA others(537): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02630.hp1 HG02647.hp2 others(12): Show |
a0001 | a0001c0002a0001c0025 | a0001c0002t0001a0001c0025t0001 | a0001c0002t0001g0005a0001c0002t0001g0035a0001c0002t0001g0136others(1): Show | 15 | 300 | 0.0500 | 544 | c.117 others(561): Show |
PITPNM1 | ENSG00000110697.13 | transcript | ENST00000356404.8 | protein_coding | 8/23 | chr11 | TogoVar | ||||||
| PITPNM1_chr11_67486768_67510363 | 67499576 | T | TCCATCCA others(537): Show |
intron_variant | MODIFIER | HG01243.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 2 | 300 | 0.0067 | 544 | c.117 others(561): Show |
PITPNM1 | ENSG00000110697.13 | transcript | ENST00000356404.8 | protein_coding | 8/23 | chr11 | TogoVar | ||||||
| PITPNM1_chr11_67486768_67510363 | 67499576 | T | TCCATCCA others(537): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0027 | a0001c0027t0001 | a0001c0027t0001g0126 | 1 | 300 | 0.0033 | 544 | c.117 others(561): Show |
PITPNM1 | ENSG00000110697.13 | transcript | ENST00000356404.8 | protein_coding | 8/23 | chr11 | TogoVar | ||||||
| PITPNM1_chr11_67486768_67510363 | 67499576 | T | TCCATCCA others(537): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0039 | 1 | 300 | 0.0033 | 544 | c.117 others(561): Show |
PITPNM1 | ENSG00000110697.13 | transcript | ENST00000356404.8 | protein_coding | 8/23 | chr11 | TogoVar | ||||||
| PITPNM1_chr11_67486768_67510363 | 67499576 | T | TCCATCCA others(537): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0024 | a0001c0024t0001 | a0001c0024t0001g0041 | 1 | 300 | 0.0033 | 544 | c.117 others(561): Show |
PITPNM1 | ENSG00000110697.13 | transcript | ENST00000356404.8 | protein_coding | 8/23 | chr11 | TogoVar | ||||||
| PKP3_chr11_389209_409908 | 401197 | C | CGCCCCGC others(537): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0162 | 1 | 216 | 0.0046 | 544 | c.173 others(561): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PNPLA7_chr9_137454952_137555402 | 137503786 | G | GAAAAAAG others(537): Show |
intron_variant | MODIFIER | HG02965.hp1 NA18906.hp1 |
a0007 | a0007c0018 | a0007c0018t0001 | a0007c0018t0001g0099a0007c0018t0001g0112 | 2 | 188 | 0.0106 | 544 | c.147 others(563): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | ||||||
| PPP2R5C_chr14_101756709_101932977 | 101918477 | G | GCCCCCCA others(537): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0127 | 1 | 138 | 0.0073 | 544 | c.160 others(561): Show |
PPP2R5C | ENSG00000078304.20 | transcript | ENST00000694906.1 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| PRPF31_chr19_54110754_54136713 | 54133808 | C | CTCCACCT others(537): Show |
downstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 227 | 0.0044 | 544 | c.*23 others(555): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2096 | chr19 | TogoVar | ||||||
| PXDN_chr2_1626887_1749515 | 1720212 | A | AGAGGGAG others(537): Show |
intron_variant | MODIFIER | NA18947.hp2 NA18973.hp1 NA18998.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0093a0001c0001t0002g0094a0001c0001t0002g0115 | 3 | 322 | 0.0093 | 544 | c.200 others(563): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar |