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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
P2RY2_chr11_73213281_73247427 | 73225664 | A | AGCTTTGT others(29): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00639.hp1 others(82): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0007others(7): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0010others(44): Show | a0001c0001t0002g0019a0001c0001t0002g0057a0001c0001t0002g0091others(70): Show | 85 | 416 | 0.2043 | 36 | c.-19 others(55): Show |
P2RY2 | ENSG00000175591.12 | transcript | ENST00000393597.7 | protein_coding | 1/2 | chr11 | TogoVar | ||||||
P2RY8_chrX_1457581_1542185 | 1509741 | G | GTATCTAT others(29): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 114 | 0.0088 | 36 | c.-25 others(55): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | ||||||
P2RY8_chrX_1457581_1542185 | 1509741 | G | GTATCTAT others(29): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02809.hp1 HG03195.hp1 others(6): Show |
a0001a0002a0010 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(6): Show | a0001c0001t0001g0026a0001c0001t0006g0018a0001c0001t0007g0009others(6): Show | 9 | 114 | 0.0790 | 36 | c.-25 others(55): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | ||||||
P3H2_chr3_189951728_190125897 | 190007965 | C | CACACACA others(29): Show |
intron_variant | MODIFIER | HG00099.hp1 NA18991.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003 | a0001c0002t0002g0043a0001c0002t0003g0111 | 2 | 304 | 0.0066 | 36 | c.481 others(55): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 1/14 | chr3 | TogoVar | ||||||
P3H2_chr3_189951728_190125897 | 190007965 | C | CACACACA others(29): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01496.hp1 HG02109.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0029a0001c0002t0002g0068a0001c0002t0002g0151others(1): Show | 4 | 304 | 0.0132 | 36 | c.481 others(55): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 1/14 | chr3 | TogoVar | ||||||
P3H2_chr3_189951728_190125897 | 190007965 | C | CACACACA others(29): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01257.hp1 HG01517.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0008 | a0001c0002t0003g0174a0001c0002t0008g0035a0001c0002t0008g0105others(2): Show | 5 | 304 | 0.0165 | 36 | c.481 others(55): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 1/14 | chr3 | TogoVar | ||||||
P3H2_chr3_189951728_190125897 | 190041020 | C | CTATATAT others(29): Show |
intron_variant | MODIFIER | HG02809.hp2 HG04184.hp1 NA19066.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0013a0001c0001t0001g0136a0001c0001t0004g0246 | 3 | 304 | 0.0099 | 36 | c.481 others(55): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 1/14 | chr3 | TogoVar | ||||||
P3H2_chr3_189951728_190125897 | 190066158 | T | TATATATA others(29): Show |
intron_variant | MODIFIER | HG03130.hp2 NA21309.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0005a0001c0003t0001 | a0001c0001t0005g0023a0001c0003t0001g0030 | 2 | 304 | 0.0066 | 36 | c.480 others(55): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 1/14 | chr3 | TogoVar | ||||||
PABIR3_chrX_134802237_134859832 | 134828047 | C | CTCTCTCT others(29): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 | 1 | 199 | 0.0050 | 36 | c.190 others(53): Show |
PABIR3 | ENSG00000156500.16 | transcript | ENST00000645433.2 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PABPC1L_chr20_44905060_44944316 | 44931087 | C | CCCTCCCT others(29): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0235 | 1 | 396 | 0.0025 | 36 | c.123 others(53): Show |
PABPC1L | ENSG00000101104.13 | transcript | ENST00000217073.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PACRG_chr6_162722974_163320500 | 163269890 | A | AAAGAAAG others(29): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0012 | 1 | 130 | 0.0077 | 36 | c.614 others(55): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PACSIN2_chr22_42864773_43020149 | 42975457 | A | AATATATA others(29): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0283 | 1 | 294 | 0.0034 | 36 | c.-78 others(55): Show |
PACSIN2 | ENSG00000100266.19 | transcript | ENST00000263246.8 | protein_coding | 1/10 | chr22 | TogoVar | ||||||
PADI1_chr1_17200128_17251007 | 17235265 | A | AGGAAGGA others(29): Show |
intron_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 406 | 0.0025 | 36 | c.131 others(55): Show |
PADI1 | ENSG00000142623.11 | transcript | ENST00000375471.5 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PADI1_chr1_17200128_17251007 | 17235269 | A | AGGAAGGA others(29): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0308 | 1 | 406 | 0.0025 | 36 | c.131 others(55): Show |
PADI1 | ENSG00000142623.11 | transcript | ENST00000375471.5 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PADI1_chr1_17200128_17251007 | 17235277 | A | AGGAAGGA others(29): Show |
intron_variant | MODIFIER | HG00738.hp1 HG00741.hp1 HG01934.hp1 others(9): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0012a0001c0002t0001others(6): Show | a0001c0001t0001g0262a0001c0001t0001g0374a0001c0001t0012g0316others(9): Show | 12 | 406 | 0.0296 | 36 | c.131 others(55): Show |
PADI1 | ENSG00000142623.11 | transcript | ENST00000375471.5 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PADI1_chr1_17200128_17251007 | 17235281 | A | AGGAAGGA others(29): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01891.hp1 HG02809.hp1 |
a0001a0007 | a0001c0001a0007c0023 | a0001c0001t0005a0001c0001t0006a0007c0023t0001 | a0001c0001t0005g0299a0001c0001t0006g0382a0007c0023t0001g0345 | 3 | 406 | 0.0074 | 36 | c.131 others(55): Show |
PADI1 | ENSG00000142623.11 | transcript | ENST00000375471.5 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PADI1_chr1_17200128_17251007 | 17235289 | A | AGGAAGGA others(29): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0342 | 1 | 406 | 0.0025 | 36 | c.131 others(55): Show |
PADI1 | ENSG00000142623.11 | transcript | ENST00000375471.5 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PADI1_chr1_17200128_17251007 | 17241451 | G | GAGGGTTG others(29): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(190): Show |
a0001a0004a0007others(3): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(29): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(185): Show | 193 | 406 | 0.4754 | 36 | c.175 others(53): Show |
PADI1 | ENSG00000142623.11 | transcript | ENST00000375471.5 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PADI1_chr1_17200128_17251007 | 17241543 | A | AGAATCGG others(29): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 406 | 0.0025 | 36 | c.175 others(53): Show |
PADI1 | ENSG00000142623.11 | transcript | ENST00000375471.5 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PADI1_chr1_17200128_17251007 | 17241875 | G | GATGGAAT others(29): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01256.hp2 HG01928.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(1): Show | a0001c0001t0001g0228a0001c0003t0001g0080a0001c0003t0001g0191others(4): Show | 7 | 406 | 0.0172 | 36 | c.175 others(55): Show |
PADI1 | ENSG00000142623.11 | transcript | ENST00000375471.5 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PADI6_chr1_17367196_17406699 | 17379111 | A | ATTTTTTT others(29): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0042 | 1 | 412 | 0.0024 | 36 | c.368 others(51): Show |
PADI6 | ENSG00000276747.1 | transcript | ENST00000619609.1 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PAFAH1B1_chr17_2588654_2690615 | 2664665 | G | GCGCGCTC others(29): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0226 | 1 | 280 | 0.0036 | 36 | c.33- others(49): Show |
PAFAH1B1 | ENSG00000007168.14 | transcript | ENST00000397195.10 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PAH_chr12_102831889_102922244 | 102899858 | C | CAAAAAAA others(29): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 312 | 0.0032 | 36 | c.169 others(53): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196751674 | C | CATATATA others(29): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0158 | 1 | 178 | 0.0056 | 36 | c.-22 others(55): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PAK2_chr3_196734857_196837647 | 196751695 | A | ATATATAT others(29): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0097 | 1 | 178 | 0.0056 | 36 | c.-22 others(55): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196827809 | G | GCAGTTTG others(29): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02055.hp1 HG02622.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0005a0001c0001t0031a0001c0001t0033others(6): Show | a0001c0001t0005g0048a0001c0001t0005g0049a0001c0001t0005g0051others(9): Show | 12 | 178 | 0.0674 | 36 | c.148 others(53): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PAK2_chr3_196734857_196837647 | 196827930 | C | CGTATCAA others(29): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG01255.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0009a0001c0001t0011a0001c0001t0013others(11): Show | a0001c0001t0009g0122a0001c0001t0011g0158a0001c0001t0013g0120others(13): Show | 16 | 178 | 0.0899 | 36 | c.148 others(53): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PAK2_chr3_196734857_196837647 | 196827966 | C | CGTATCAA others(29): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01070.hp2 HG01496.hp1 others(16): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0006a0001c0001t0008a0001c0001t0011others(5): Show | a0001c0001t0006g0062a0001c0001t0008g0068a0001c0001t0011g0152others(16): Show | 19 | 178 | 0.1067 | 36 | c.148 others(53): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PAK2_chr3_196734857_196837647 | 196828055 | C | CTGTTTAC others(29): Show |
intron_variant | MODIFIER | HG00408.hp1 HG02027.hp1 HG02165.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007 | a0001c0001t0003g0010a0001c0001t0003g0136a0001c0001t0003g0138others(5): Show | 8 | 178 | 0.0449 | 36 | c.148 others(53): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PAK2_chr3_196734857_196837647 | 196834252 | C | CAAAAAAA others(29): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0017 | 1 | 178 | 0.0056 | 36 | c.*58 others(47): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1606 | chr3 | TogoVar | ||||||
PAK4_chr19_39120786_39184404 | 39130073 | G | GAGGGTCA others(29): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(105): Show |
a0001a0006a0007 | a0001c0001a0001c0007a0001c0019others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0002g0279a0001c0001t0002g0280a0001c0001t0002g0282others(105): Show | 108 | 368 | 0.2935 | 36 | c.-96 others(53): Show |
PAK4 | ENSG00000130669.17 | transcript | ENST00000360442.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PALD1_chr10_70473767_70573450 | 70508843 | C | CTGTGTGT others(29): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00642.hp2 HG00735.hp2 others(15): Show |
a0001a0002a0006others(4): Show | a0001c0001a0001c0004a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(9): Show | a0001c0001t0001g0046a0001c0001t0001g0108a0001c0001t0001g0180others(15): Show | 18 | 308 | 0.0584 | 36 | c.-29 others(55): Show |
PALD1 | ENSG00000107719.10 | transcript | ENST00000263563.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PALD1_chr10_70473767_70573450 | 70508854 | T | TGTGTGTG others(29): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01123.hp2 HG02055.hp1 others(1): Show |
a0001a0022 | a0001c0001a0022c0027 | a0001c0001t0001a0001c0001t0044a0022c0027t0009 | a0001c0001t0001g0074a0001c0001t0001g0250a0001c0001t0044g0267others(1): Show | 4 | 308 | 0.0130 | 36 | c.-29 others(55): Show |
PALD1 | ENSG00000107719.10 | transcript | ENST00000263563.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PALD1_chr10_70473767_70573450 | 70508854 | T | TGTGTGTG others(29): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01169.hp2 HG01175.hp1 others(9): Show |
a0001a0004a0009 | a0001c0001a0004c0005a0009c0011 | a0001c0001t0001a0001c0001t0003a0001c0001t0025others(3): Show | a0001c0001t0001g0069a0001c0001t0001g0174a0001c0001t0001g0253others(9): Show | 12 | 308 | 0.0390 | 36 | c.-29 others(55): Show |
PALD1 | ENSG00000107719.10 | transcript | ENST00000263563.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PALLD_chr4_168492052_168933441 | 168625500 | G | GAGATAGA others(29): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG01074.hp1 others(11): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0007a0001c0001t0001g0059a0001c0001t0002g0110others(11): Show | 14 | 156 | 0.0897 | 36 | c.909 others(55): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PALLD_chr4_168492052_168933441 | 168625502 | G | GATAGATA others(29): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0002 | a0002c0017 | a0002c0017t0003 | a0002c0017t0003g0084 | 1 | 156 | 0.0064 | 36 | c.909 others(55): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PALLD_chr4_168492052_168933441 | 168625502 | G | GATATATA others(29): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02965.hp1 HG03540.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0010a0001c0004t0006others(1): Show | a0001c0001t0001g0051a0001c0002t0010g0092a0001c0004t0006g0096others(1): Show | 4 | 156 | 0.0256 | 36 | c.909 others(55): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PALM2AKAP2_chr9_109775198_110177512 | 110006320 | C | CTATCTTT others(29): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0006 | a0001c0006t0007 | a0001c0006t0007g0187 | 1 | 222 | 0.0045 | 36 | c.497 others(53): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 6/10 | chr9 | TogoVar | ||||||
PALM2AKAP2_chr9_109775198_110177512 | 110076492 | C | CATATATA others(29): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01192.hp2 HG01255.hp1 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0004a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(3): Show | a0001c0001t0001g0214a0001c0001t0006g0163a0001c0001t0011g0170others(4): Show | 7 | 222 | 0.0315 | 36 | c.583 others(55): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PALM2AKAP2_chr9_109775198_110177512 | 110135164 | A | AAAAAAAA others(29): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 222 | 0.0045 | 36 | c.583 others(51): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PALM3_chr19_14048367_14067076 | 14067060 | A | ATATTAAT others(29): Show |
upstream_gene_variant | MODIFIER | HG01123.hp2 HG02723.hp2 HG02809.hp2 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0002others(1): Show | a0001c0001t0002a0002c0003t0001a0003c0002t0001others(2): Show | a0001c0001t0002g0118a0002c0003t0001g0004a0003c0002t0001g0117others(4): Show | 12 | 438 | 0.0274 | 36 | c.-50 others(47): Show |
PALM3 | ENSG00000187867.10 | transcript | ENST00000669674.2 | protein_coding | 4985 | chr19 | TogoVar | ||||||
PALM3_chr19_14048367_14067076 | 14067065 | A | AATATATT others(29): Show |
upstream_gene_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 438 | 0.0023 | 36 | c.-50 others(47): Show |
PALM3 | ENSG00000187867.10 | transcript | ENST00000669674.2 | protein_coding | 4990 | chr19 | TogoVar | ||||||
PALS2_chr7_24568452_24699193 | 24638322 | C | CTTTTTTT others(29): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0079 | a0001c0001t0079g0287 | 1 | 378 | 0.0027 | 36 | c.118 others(53): Show |
PALS2 | ENSG00000105926.16 | transcript | ENST00000222644.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
PAM16_chr16_4335251_4356321 | 4344329 | C | CGTGAGAG others(29): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02451.hp2 HG02809.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050a0001c0001t0001g0236a0001c0001t0001g0240 | 4 | 367 | 0.0109 | 36 | c.4-1 others(49): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | ||||||
PAM16_chr16_4335251_4356321 | 4344368 | G | GTGTGAGA others(29): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(233): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(146): Show | 236 | 367 | 0.6431 | 36 | c.4-1 others(49): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | ||||||
PAM16_chr16_4335251_4356321 | 4344551 | C | CGTGAGAG others(29): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02572.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185a0001c0001t0001g0186 | 2 | 367 | 0.0055 | 36 | c.4-1 others(49): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | ||||||
PAM_chr5_102750305_103034716 | 102814526 | T | TATATATA others(29): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02572.hp1 NA20905.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0002 | a0001c0001t0003g0062a0001c0001t0003g0063a0001c0002t0002g0064 | 3 | 188 | 0.0160 | 36 | c.-37 others(57): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PAM_chr5_102750305_103034716 | 102885094 | T | TATATATA others(29): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0004 | a0004c0007 | a0004c0007t0002 | a0004c0007t0002g0038 | 1 | 188 | 0.0053 | 36 | c.211 others(55): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 3/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PANK3_chr5_168543495_168584368 | 168565866 | A | AATATATA others(29): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0320 | 1 | 416 | 0.0024 | 36 | c.635 others(51): Show |
PANK3 | ENSG00000120137.7 | transcript | ENST00000239231.7 | protein_coding | 3/6 | chr5 | TogoVar | ||||||
PANK3_chr5_168543495_168584368 | 168565868 | A | AAAAAATA others(29): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00735.hp1 HG01175.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0028 | a0001c0001t0001g0246a0001c0001t0001g0271a0001c0001t0001g0318others(1): Show | 4 | 416 | 0.0096 | 36 | c.635 others(51): Show |
PANK3 | ENSG00000120137.7 | transcript | ENST00000239231.7 | protein_coding | 3/6 | chr5 | TogoVar |