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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PAK5_chr20_9532370_9844076 | 9618915 | GTTTTTTT others(8): Show |
G | intron_variant | MODIFIER | HG03490.hp1 NA18972.hp2 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0002a0002c0001t0023 | a0001c0002t0002g0139 a0002c0001t0023g0041 |
2 | 208 | 0.0096 | -15 | c.204 others(34): Show |
PAK5 | ENSG00000101349.17 | transcript | ENST00000353224.10 | protein_coding | 3/9 | chr20 | TogoVar | |||||||
PAK5_chr20_9532370_9844076 | 9677073 | GTGTGTGT others(8): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00438.hp2 others(31): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0004a0001c0006others(5): Show | a0001c0002t0002a0001c0004t0004a0001c0006t0002others(12): Show | a0001c0002t0002g0094 a0001c0002t0002g0146 a0001c0002t0002g0158 others(31): Show |
34 | 208 | 0.1635 | -15 | c.-11 others(34): Show |
PAK5 | ENSG00000101349.17 | transcript | ENST00000353224.10 | protein_coding | 2/9 | chr20 | TogoVar | |||||||
PAK6_chr15_40234063_40282487 | 40257466 | GACCACGT others(8): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02451.hp2 HG02559.hp1 others(17): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0009a0001c0001t0010a0001c0001t0015others(8): Show | a0001c0001t0009g0391 a0001c0001t0010g0372 a0001c0001t0010g0388 others(16): Show |
20 | 426 | 0.0470 | -15 | c.-6+ others(30): Show |
PAK6 | ENSG00000137843.12 | transcript | ENST00000560346.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PALB2_chr16_23598165_23646310 | 23623501 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 326 | 0.0031 | -15 | c.283 others(32): Show |
PALB2 | ENSG00000083093.11 | transcript | ENST00000261584.9 | protein_coding | 8/12 | chr16 | TogoVar | |||||||
PALD1_chr10_70473767_70573450 | 70505603 | TCAAAACA others(8): Show |
T | intron_variant | MODIFIER | HG01074.hp2 HG01099.hp1 HG01884.hp1 others(14): Show |
a0001a0005a0009others(2): Show | a0001c0001a0001c0004a0001c0029others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0084 a0001c0001t0002g0306 a0001c0001t0004g0027 others(14): Show |
17 | 308 | 0.0552 | -15 | c.-29 others(34): Show |
PALD1 | ENSG00000107719.10 | transcript | ENST00000263563.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PALLD_chr4_168492052_168933441 | 168596923 | ATAGCACT others(8): Show |
A | intron_variant | MODIFIER | HG01099.hp2 HG01175.hp2 HG01346.hp2 others(3): Show |
a0001a0002a0004 | a0001c0001a0002c0007a0002c0012others(1): Show | a0001c0001t0004a0002c0007t0001a0002c0007t0004others(3): Show | a0001c0001t0004g0060 a0002c0007t0001g0025 a0002c0007t0004g0027 others(3): Show |
6 | 156 | 0.0385 | -15 | c.909 others(34): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PALLD_chr4_168492052_168933441 | 168670765 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG03540.hp2 NA19240.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0006 | a0001c0001t0001g0051 a0002c0003t0006g0113 |
2 | 156 | 0.0128 | -15 | c.108 others(34): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PALM2AKAP2_chr9_109775198_110177512 | 109873442 | AAAAATAA others(8): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp1 others(35): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(11): Show | a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0028 others(35): Show |
38 | 222 | 0.1712 | -15 | c.126 others(32): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PALM2AKAP2_chr9_109775198_110177512 | 109922421 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 222 | 0.0045 | -15 | c.258 others(32): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PALM2AKAP2_chr9_109775198_110177512 | 109949239 | GTCTCCTC others(8): Show |
G | intron_variant | MODIFIER | NA18994.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0130 | 1 | 222 | 0.0045 | -15 | c.496 others(34): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PALM2AKAP2_chr9_109775198_110177512 | 110014800 | AAAAATGT others(8): Show |
A | intron_variant | MODIFIER | HG01081.hp2 HG02280.hp1 HG02451.hp2 others(7): Show |
a0001a0002a0005 | a0001c0001a0001c0007a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(4): Show | a0001c0001t0001g0101 a0001c0001t0001g0202 a0001c0001t0006g0163 others(7): Show |
10 | 222 | 0.0451 | -15 | c.497 others(32): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PALM2AKAP2_chr9_109775198_110177512 | 110014802 | AAATGTAT others(8): Show |
A | intron_variant | MODIFIER | HG02056.hp1 NA18982.hp1 NA19002.hp2 others(2): Show |
a0002a0003a0014 | a0002c0002a0003c0003a0014c0018 | a0002c0002t0003a0003c0003t0001a0014c0018t0001 | a0002c0002t0003g0003 a0002c0002t0003g0124 a0003c0003t0001g0042 others(2): Show |
5 | 222 | 0.0225 | -15 | c.497 others(32): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PALMD_chr1_99641113_99699535 | 99649470 | GAGAAGAG others(8): Show |
G | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0313 | 1 | 380 | 0.0026 | -15 | c.45+ others(30): Show |
PALMD | ENSG00000099260.12 | transcript | ENST00000263174.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PALMD_chr1_99641113_99699535 | 99652659 | AGAAAGGA others(8): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00639.hp2 others(38): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0003 a0001c0001t0001g0037 a0001c0001t0001g0039 others(37): Show |
41 | 380 | 0.1079 | -15 | c.45+ others(30): Show |
PALMD | ENSG00000099260.12 | transcript | ENST00000263174.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PALMD_chr1_99641113_99699535 | 99652684 | GGAAAGGA others(8): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG02896.hp1 HG02897.hp2 |
a0002a0007 | a0002c0003a0007c0015 | a0002c0003t0001a0007c0015t0001 | a0002c0003t0001g0353 a0002c0003t0001g0354 a0007c0015t0001g0139 |
3 | 380 | 0.0079 | -15 | c.45+ others(30): Show |
PALMD | ENSG00000099260.12 | transcript | ENST00000263174.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PALMD_chr1_99641113_99699535 | 99683084 | GAGAGAGA others(8): Show |
G | intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 380 | 0.0026 | -15 | c.252 others(32): Show |
PALMD | ENSG00000099260.12 | transcript | ENST00000263174.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PALM_chr19_703935_753329 | 741504 | AGGGGTGA others(8): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(210): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0003a0001c0004others(10): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(33): Show | a0001c0002t0001g0009 a0001c0002t0001g0142 a0001c0002t0001g0149 others(204): Show |
213 | 404 | 0.5272 | -15 | c.634 others(32): Show |
PALM | ENSG00000099864.18 | transcript | ENST00000338448.10 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PALM_chr19_703935_753329 | 750188 | CTTTTTTT others(8): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(111): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0003a0001c0014others(7): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0010others(21): Show | a0001c0002t0001g0028 a0001c0002t0001g0060 a0001c0002t0001g0110 others(110): Show |
114 | 404 | 0.2822 | -15 | c.*33 others(26): Show |
PALM | ENSG00000099864.18 | transcript | ENST00000338448.10 | protein_coding | 1860 | chr19 | TogoVar | |||||||
PALS2_chr7_24568452_24699193 | 24662768 | GAAAAAAA others(8): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00544.hp1 others(240): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(90): Show | a0001c0001t0001g0098 a0001c0001t0001g0182 a0001c0001t0001g0183 others(236): Show |
243 | 378 | 0.6429 | -15 | c.652 others(30): Show |
PALS2 | ENSG00000105926.16 | transcript | ENST00000222644.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PALS2_chr7_24568452_24699193 | 24672196 | CTGTTTTG others(8): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01361.hp2 others(21): Show |
a0001 | a0001c0001a0001c0004a0001c0010 | a0001c0001t0002a0001c0001t0009a0001c0001t0013others(11): Show | a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 others(20): Show |
24 | 378 | 0.0635 | -15 | c.111 others(34): Show |
PALS2 | ENSG00000105926.16 | transcript | ENST00000222644.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PAMR1_chr11_35426827_35530616 | 35450129 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 378 | 0.0027 | -15 | c.821 others(32): Show |
PAMR1 | ENSG00000149090.13 | transcript | ENST00000619888.5 | protein_coding | 6/10 | chr11 | TogoVar | |||||||
PAMR1_chr11_35426827_35530616 | 35523185 | TTTTTCTT others(8): Show |
T | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0324 | 1 | 378 | 0.0027 | -15 | c.73+ others(30): Show |
PAMR1 | ENSG00000149090.13 | transcript | ENST00000619888.5 | protein_coding | 1/10 | chr11 | TogoVar | |||||||
PAMR1_chr11_35426827_35530616 | 35525923 | GGGGCCAT others(8): Show |
G | upstream_gene_variant | MODIFIER | HG02109.hp1 HG02451.hp2 HG02809.hp1 others(5): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0005a0004c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0330 a0001c0001t0001g0360 a0001c0001t0002g0331 others(5): Show |
8 | 378 | 0.0212 | -15 | c.-35 others(24): Show |
PAMR1 | ENSG00000149090.13 | transcript | ENST00000619888.5 | protein_coding | 308 | chr11 | TogoVar | |||||||
PANK1_chr10_89577988_89650242 | 89595832 | AAATATAT others(8): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG02280.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0020 | 2 | 366 | 0.0055 | -15 | c.900 others(32): Show |
PANK1 | ENSG00000152782.19 | transcript | ENST00000307534.10 | protein_coding | 3/6 | chr10 | TogoVar | |||||||
PANK1_chr10_89577988_89650242 | 89595834 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG01257.hp1 HG02738.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 a0001c0001t0001g0132 |
2 | 366 | 0.0055 | -15 | c.900 others(32): Show |
PANK1 | ENSG00000152782.19 | transcript | ENST00000307534.10 | protein_coding | 3/6 | chr10 | TogoVar | |||||||
PANK3_chr5_168543495_168584368 | 168577343 | GATTCAAT others(8): Show |
G | intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 | 1 | 416 | 0.0024 | -15 | c.28+ others(30): Show |
PANK3 | ENSG00000120137.7 | transcript | ENST00000239231.7 | protein_coding | 1/6 | chr5 | TogoVar | |||||||
PANK4_chr1_2503537_2531596 | 2503721 | GGCCCCAG others(8): Show |
G | downstream_gene_variant | MODIFIER | NA19078.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0180 | 1 | 399 | 0.0025 | -15 | c.*51 others(26): Show |
PANK4 | ENSG00000157881.16 | transcript | ENST00000378466.9 | protein_coding | 4815 | chr1 | TogoVar | |||||||
PAOX_chr10_133374262_133396694 | 133375529 | AAAAAGCC others(8): Show |
A | upstream_gene_variant | MODIFIER | HG02615.hp2 HG03209.hp1 HG03540.hp1 |
a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0025 | 3 | 346 | 0.0087 | -15 | c.-37 others(26): Show |
PAOX | ENSG00000148832.16 | transcript | ENST00000278060.10 | protein_coding | 3732 | chr10 | TogoVar | |||||||
PAPLN_chr14_73232506_73279623 | 73251065 | CCCCTTCC others(8): Show |
C | intron_variant | MODIFIER | HG02572.hp1 HG02723.hp1 HG02818.hp2 others(4): Show |
a0001a0014 | a0001c0006a0001c0013a0001c0036others(1): Show | a0001c0006t0002a0001c0013t0001a0001c0036t0001others(1): Show | a0001c0006t0002g0033 a0001c0013t0001g0036 a0001c0036t0001g0035 others(4): Show |
7 | 418 | 0.0168 | -15 | c.589 others(28): Show |
PAPLN | ENSG00000100767.17 | transcript | ENST00000644200.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PAPPA2_chr1_176458175_176850601 | 176845019 | ATTCAGAG others(8): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0012 | 1 | 118 | 0.0085 | -15 | c.*25 others(26): Show |
PAPPA2 | ENSG00000116183.11 | transcript | ENST00000367662.5 | protein_coding | 23/23 | 2569 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PAPPA_chr9_116148791_116407321 | 116374173 | ATGATGAT others(8): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG01192.hp2 HG01981.hp2 others(16): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0001a0001c0002t0009a0001c0002t0010others(12): Show | a0001c0001t0001g0054 a0001c0001t0001g0148 a0001c0001t0001g0198 others(16): Show |
19 | 234 | 0.0812 | -15 | c.460 others(34): Show |
PAPPA | ENSG00000182752.10 | transcript | ENST00000328252.4 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PAPSS2_chr10_87654878_87752705 | 87676872 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0315 | 1 | 372 | 0.0027 | -15 | c.27+ others(32): Show |
PAPSS2 | ENSG00000198682.13 | transcript | ENST00000456849.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69300842 | TTTCTTTC others(8): Show |
T | intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 284 | 0.0035 | -15 | c.-27 others(34): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69300858 | TTTCTTTC others(8): Show |
T | intron_variant | MODIFIER | HG02055.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0188 | 1 | 284 | 0.0035 | -15 | c.-27 others(34): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69301859 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG01257.hp2 HG01346.hp2 HG01943.hp2 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0007a0002c0002t0024 | a0002c0002t0002g0166 a0002c0002t0002g0172 a0002c0002t0002g0201 others(5): Show |
8 | 284 | 0.0282 | -15 | c.-27 others(34): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69322691 | GGAAGAAG others(8): Show |
G | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0126 | 1 | 284 | 0.0035 | -15 | c.-27 others(36): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69322759 | AAGAAGAA others(8): Show |
A | intron_variant | MODIFIER | HG02257.hp2 NA18906.hp1 NA19005.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005 | a0001c0001t0001g0228 a0001c0001t0001g0232 a0001c0001t0004g0141 others(1): Show |
4 | 284 | 0.0141 | -15 | c.-27 others(36): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69342267 | TTTATTAT others(8): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00597.hp1 others(53): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(4): Show | a0002c0002t0001g0032 a0002c0002t0001g0044 a0002c0002t0001g0127 others(53): Show |
56 | 284 | 0.1972 | -15 | c.-11 others(34): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69365046 | AATTTTAT others(8): Show |
A | intron_variant | MODIFIER | HG03453.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 a0001c0001t0001g0237 |
2 | 284 | 0.0070 | -15 | c.51+ others(30): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR9_chr3_142949585_142968674 | 142955442 | TAAAAAAA others(8): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01109.hp1 HG03209.hp1 |
a0001 | a0001c0004 | a0001c0004t0033 | a0001c0004t0033g0000 | 2 | 446 | 0.0045 | -15 | c.*67 others(26): Show |
PAQR9 | ENSG00000188582.10 | transcript | ENST00000340634.6 | protein_coding | 1/1 | 6746 | chr3 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 204905588 | ATGAGTTT others(8): Show |
A | intron_variant | MODIFIER | HG02965.hp1 | a0011 | a0011c0027 | a0011c0027t0015 | a0011c0027t0015g0003 | 1 | 54 | 0.0185 | -15 | c.223 others(34): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 205126752 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00609.hp2 HG01109.hp1 HG02055.hp1 others(5): Show |
a0001a0003a0009others(1): Show | a0001c0001a0001c0003a0003c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0016others(5): Show | a0001c0001t0001g0053 a0001c0001t0002g0005 a0001c0003t0016g0046 others(5): Show |
8 | 54 | 0.1482 | -15 | c.143 others(34): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 205242205 | ATCACCCA others(8): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02630.hp1 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0006others(3): Show | a0001c0001t0004a0001c0003t0003a0002c0006t0007others(3): Show | a0001c0001t0004g0017 a0001c0003t0003g0047 a0002c0006t0007g0013 others(3): Show |
6 | 54 | 0.1111 | -15 | c.214 others(34): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3_chr10_34104561_34820296 | 34185811 | CTATATTA others(8): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01109.hp2 HG02055.hp1 others(17): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0060 a0001c0001t0001g0067 a0001c0001t0001g0073 others(17): Show |
20 | 100 | 0.2000 | -15 | c.342 others(36): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 22/24 | chr10 | TogoVar | |||||||
PARD3_chr10_34104561_34820296 | 34309548 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02055.hp1 HG02145.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0018 | a0001c0001t0003a0001c0001t0006a0001c0001t0012others(5): Show | a0001c0001t0003g0055 a0001c0001t0006g0018 a0001c0001t0012g0054 others(10): Show |
13 | 100 | 0.1300 | -15 | c.306 others(34): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 20/24 | chr10 | TogoVar | |||||||
PARD3_chr10_34104561_34820296 | 34355943 | AAAACAAA others(8): Show |
A | intron_variant | MODIFIER | HG01167.hp2 HG03516.hp2 |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0002c0005t0002 | a0001c0001t0001g0058 a0002c0005t0002g0021 |
2 | 100 | 0.0200 | -15 | c.206 others(34): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 14/24 | chr10 | TogoVar | |||||||
PARD3_chr10_34104561_34820296 | 34371518 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG01358.hp1 HG02523.hp2 HG02622.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0011a0001c0002t0009 | a0001c0001t0001g0082 a0001c0001t0011g0083 a0001c0002t0009g0092 others(1): Show |
4 | 100 | 0.0400 | -15 | c.170 others(32): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 12/24 | chr10 | TogoVar | |||||||
PARD3_chr10_34104561_34820296 | 34429553 | AGTTTTGT others(8): Show |
A | intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0039 | 1 | 100 | 0.0100 | -15 | c.714 others(34): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 5/24 | chr10 | TogoVar | |||||||
PARD3_chr10_34104561_34820296 | 34447480 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG01099.hp2 HG01167.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(9): Show | a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0066 others(16): Show |
19 | 100 | 0.1900 | -15 | c.714 others(32): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 5/24 | chr10 | TogoVar | |||||||
PARD3_chr10_34104561_34820296 | 34447833 | TGAAAGTG others(8): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG01243.hp1 HG02145.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(4): Show | a0001c0001t0001g0058 a0001c0001t0003g0055 a0001c0001t0012g0054 others(7): Show |
10 | 100 | 0.1000 | -15 | c.714 others(32): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 5/24 | chr10 | TogoVar |