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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PAFAH1B2_chr11_117139287_117176045 | 117149430 | G | GGTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0218 | 1 | 432 | 0.0023 | 17 | c.-7- others(32): Show |
PAFAH1B2 | ENSG00000168092.14 | transcript | ENST00000527958.6 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
PAFAH1B2_chr11_117139287_117176045 | 117149430 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01258.hp2 HG01517.hp1 HG02486.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0014a0001c0001t0025others(2): Show | a0001c0001t0006g0014 a0001c0001t0006g0034 a0001c0001t0006g0220 others(7): Show |
13 | 432 | 0.0301 | 17 | c.-7- others(32): Show |
PAFAH1B2 | ENSG00000168092.14 | transcript | ENST00000527958.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PAFAH1B2_chr11_117139287_117176045 | 117168446 | G | GTTTGTTT others(10): Show |
3_prime_UTR_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0086 | a0001c0001t0086g0051 | 1 | 432 | 0.0023 | 17 | c.*75 others(26): Show |
PAFAH1B2 | ENSG00000168092.14 | transcript | ENST00000527958.6 | protein_coding | 6/6 | 751 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PAGE3_chrX_55253415_55269916 | 55262711 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0037 | 1 | 333 | 0.0030 | 17 | c.193 others(32): Show |
PAGE3 | ENSG00000204279.8 | transcript | ENST00000374951.6 | protein_coding | 3/4 | chrX | TogoVar | |||||||
PAH_chr12_102831889_102922244 | 102899858 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02717.hp2 HG02723.hp1 others(2): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0156 a0001c0001t0002g0011 a0001c0001t0004g0232 others(2): Show |
5 | 312 | 0.0160 | 17 | c.169 others(34): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | TogoVar | |||||||
PAIP1_chr5_43521267_43562077 | 43531656 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0303 | 1 | 350 | 0.0029 | 17 | c.125 others(36): Show |
PAIP1 | ENSG00000172239.14 | transcript | ENST00000306846.8 | protein_coding | 9/10 | chr5 | TogoVar | |||||||
PAIP1_chr5_43521267_43562077 | 43531676 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0302 | 1 | 350 | 0.0029 | 17 | c.125 others(36): Show |
PAIP1 | ENSG00000172239.14 | transcript | ENST00000306846.8 | protein_coding | 9/10 | chr5 | TogoVar | |||||||
PAK1_chr11_77317017_77479094 | 77399858 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0024 | 1 | 302 | 0.0033 | 17 | c.-21 others(34): Show |
PAK1 | ENSG00000149269.10 | transcript | ENST00000356341.8 | protein_coding | 1/14 | chr11 | TogoVar | |||||||
PAK1_chr11_77317017_77479094 | 77429056 | T | TAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0190 | 1 | 302 | 0.0033 | 17 | c.-21 others(36): Show |
PAK1 | ENSG00000149269.10 | transcript | ENST00000356341.8 | protein_coding | 1/14 | chr11 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196735294 | C | CAAAAAAA others(10): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 HG04228.hp1 NA19005.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009a0001c0001t0047 | a0001c0001t0004g0025 a0001c0001t0009g0023 a0001c0001t0047g0011 |
3 | 178 | 0.0169 | 17 | c.-48 others(28): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 4562 | chr3 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196759498 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0145 | 1 | 178 | 0.0056 | 17 | c.-22 others(36): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196808557 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0071 | 1 | 178 | 0.0056 | 17 | c.709 others(32): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196833454 | A | ATATATAT others(10): Show |
downstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0051 | 1 | 178 | 0.0056 | 17 | c.*50 others(28): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 808 | chr3 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196833460 | A | ATATATAT others(10): Show |
downstream_gene_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0059 | 1 | 178 | 0.0056 | 17 | c.*50 others(28): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 814 | chr3 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196833468 | A | ATATATAT others(10): Show |
downstream_gene_variant | MODIFIER | HG02074.hp1 NA18971.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0141 |
2 | 178 | 0.0112 | 17 | c.*50 others(28): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 822 | chr3 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196833470 | A | ATATATAT others(10): Show |
downstream_gene_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 178 | 0.0056 | 17 | c.*50 others(28): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 824 | chr3 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196833472 | A | ATATATAT others(10): Show |
downstream_gene_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0062 | 1 | 178 | 0.0056 | 17 | c.*50 others(28): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 826 | chr3 | TogoVar | |||||||
PAK4_chr19_39120786_39184404 | 39148466 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00558.hp1 NA18948.hp1 NA18951.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0309 a0001c0001t0002g0325 a0001c0001t0002g0346 others(1): Show |
4 | 368 | 0.0109 | 17 | c.-95 others(36): Show |
PAK4 | ENSG00000130669.17 | transcript | ENST00000360442.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PAK4_chr19_39120786_39184404 | 39165554 | A | ATAAATAA others(10): Show |
intron_variant | MODIFIER | HG01358.hp2 HG02056.hp2 NA19081.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0280 a0001c0001t0002g0337 a0001c0001t0003g0085 |
3 | 368 | 0.0082 | 17 | c.-95 others(34): Show |
PAK4 | ENSG00000130669.17 | transcript | ENST00000360442.8 | protein_coding | 1/9 | chr19 | TogoVar | |||||||
PAK5_chr20_9532370_9844076 | 9766326 | T | TTGAATAT others(10): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0071 | 1 | 208 | 0.0048 | 17 | c.-16 others(38): Show |
PAK5 | ENSG00000101349.17 | transcript | ENST00000353224.10 | protein_coding | 1/9 | chr20 | TogoVar | |||||||
PAK6_chr15_40234063_40282487 | 40275280 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01081.hp1 HG01167.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0002c0003t0031 | a0001c0001t0003g0001 a0002c0003t0031g0062 a0002c0003t0031g0359 |
4 | 426 | 0.0094 | 17 | c.187 others(34): Show |
PAK6 | ENSG00000137843.12 | transcript | ENST00000560346.6 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAK6_chr15_40234063_40282487 | 40275280 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01070.hp2 HG01074.hp2 others(19): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0010a0001c0001t0013a0001c0001t0014others(13): Show | a0001c0001t0010g0094 a0001c0001t0013g0223 a0001c0001t0013g0395 others(17): Show |
22 | 426 | 0.0516 | 17 | c.187 others(34): Show |
PAK6 | ENSG00000137843.12 | transcript | ENST00000560346.6 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAK6_chr15_40234063_40282487 | 40275282 | T | TTTTTTTT others(10): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0124 | 1 | 426 | 0.0024 | 17 | c.187 others(34): Show |
PAK6 | ENSG00000137843.12 | transcript | ENST00000560346.6 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PALB2_chr16_23598165_23646310 | 23645137 | A | ATATATAT others(10): Show |
upstream_gene_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 326 | 0.0031 | 17 | c.-39 others(28): Show |
PALB2 | ENSG00000083093.11 | transcript | ENST00000261584.9 | protein_coding | 3828 | chr16 | TogoVar | |||||||
PALB2_chr16_23598165_23646310 | 23645137 | A | ATATATAT others(10): Show |
upstream_gene_variant | MODIFIER | HG01168.hp2 NA18961.hp1 NA19011.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 a0001c0001t0001g0185 a0001c0001t0001g0191 |
3 | 326 | 0.0092 | 17 | c.-39 others(28): Show |
PALB2 | ENSG00000083093.11 | transcript | ENST00000261584.9 | protein_coding | 3828 | chr16 | TogoVar | |||||||
PALB2_chr16_23598165_23646310 | 23645137 | A | ATATATAT others(10): Show |
upstream_gene_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 326 | 0.0031 | 17 | c.-39 others(28): Show |
PALB2 | ENSG00000083093.11 | transcript | ENST00000261584.9 | protein_coding | 3828 | chr16 | TogoVar | |||||||
PALD1_chr10_70473767_70573450 | 70529208 | G | GCCCCCCC others(10): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG03669.hp2 | a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0067 | 1 | 308 | 0.0033 | 17 | c.186 others(29): Show |
PALD1 | ENSG00000107719.10 | transcript | ENST00000263563.7 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PALLD_chr4_168492052_168933441 | 168493783 | T | TAAAAAAA others(10): Show |
upstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0081 | 1 | 156 | 0.0064 | 17 | c.-34 others(28): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 3268 | chr4 | TogoVar | |||||||
PALLD_chr4_168492052_168933441 | 168527422 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02257.hp1 HG02486.hp1 others(7): Show |
a0002 | a0002c0003a0002c0006a0002c0007others(3): Show | a0002c0003t0001a0002c0003t0003a0002c0003t0006others(7): Show | a0002c0003t0001g0037 a0002c0003t0003g0033 a0002c0003t0006g0113 others(7): Show |
10 | 156 | 0.0641 | 17 | c.908 others(36): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PALLD_chr4_168492052_168933441 | 168681540 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG03225.hp2 HG06807.hp2 NA18966.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0003a0002c0003t0005 | a0001c0001t0001g0026 a0001c0001t0003g0016 a0002c0003t0005g0133 |
3 | 156 | 0.0192 | 17 | c.115 others(34): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PALLD_chr4_168492052_168933441 | 168759202 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0148 | 1 | 156 | 0.0064 | 17 | c.196 others(38): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PALLD_chr4_168492052_168933441 | 168759202 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 156 | 0.0064 | 17 | c.196 others(38): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PALLD_chr4_168492052_168933441 | 168759202 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0119 | 1 | 156 | 0.0064 | 17 | c.196 others(38): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PALM2AKAP2_chr9_109775198_110177512 | 110011012 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0164 | 1 | 222 | 0.0045 | 17 | c.497 others(34): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 6/10 | chr9 | TogoVar | |||||||
PALM_chr19_703935_753329 | 727243 | C | CGACCCTG others(10): Show |
intron_variant | MODIFIER | HG02886.hp2 HG03195.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004 | 2 | 404 | 0.0050 | 17 | c.138 others(32): Show |
PALM | ENSG00000099864.18 | transcript | ENST00000338448.10 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PALM_chr19_703935_753329 | 749456 | G | GCACCCTG others(10): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG01891.hp1 others(16): Show |
a0001a0002a0006 | a0001c0002a0001c0003a0002c0001others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0006others(9): Show | a0001c0002t0001g0149 a0001c0002t0002g0268 a0001c0002t0006g0029 others(16): Show |
19 | 404 | 0.0470 | 17 | c.*26 others(28): Show |
PALM | ENSG00000099864.18 | transcript | ENST00000338448.10 | protein_coding | 1128 | chr19 | TogoVar | |||||||
PALS1_chr14_67236435_67341061 | 67284429 | T | TAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02886.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0148 a0001c0001t0008g0150 |
2 | 290 | 0.0069 | 17 | c.367 others(34): Show |
PALS1 | ENSG00000072415.10 | transcript | ENST00000261681.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PALS1_chr14_67236435_67341061 | 67284547 | T | TAAAAAAA others(10): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0284 | 1 | 290 | 0.0035 | 17 | c.367 others(34): Show |
PALS1 | ENSG00000072415.10 | transcript | ENST00000261681.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PALS1_chr14_67236435_67341061 | 67300336 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0125 | 1 | 290 | 0.0035 | 17 | c.577 others(34): Show |
PALS1 | ENSG00000072415.10 | transcript | ENST00000261681.9 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PALS2_chr7_24568452_24699193 | 24638322 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01192.hp1 HG02735.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0012a0001c0002t0018others(1): Show | a0001c0002t0004g0362 a0001c0002t0004g0363 a0001c0002t0012g0290 others(3): Show |
6 | 378 | 0.0159 | 17 | c.118 others(34): Show |
PALS2 | ENSG00000105926.16 | transcript | ENST00000222644.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PAM16_chr16_4335251_4356321 | 4344665 | A | AGGGGATT others(10): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0200 | 1 | 367 | 0.0027 | 17 | c.4-1 others(30): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
PAM16_chr16_4335251_4356321 | 4344719 | A | AGGGGATT others(10): Show |
intron_variant | MODIFIER | HG00673.hp1 HG02027.hp1 HG02896.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0001g0140 a0001c0001t0003g0246 |
4 | 367 | 0.0109 | 17 | c.4-1 others(30): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
PAM16_chr16_4335251_4356321 | 4344737 | A | AGGGGATT others(10): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0198 | 1 | 367 | 0.0027 | 17 | c.4-1 others(30): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
PAM_chr5_102750305_103034716 | 102766926 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG03471.hp2 HG03516.hp2 HG04199.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0004 | a0001c0001t0001g0020 a0001c0001t0001g0089 a0001c0001t0001g0103 others(4): Show |
7 | 188 | 0.0372 | 17 | c.-37 others(38): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PAM_chr5_102750305_103034716 | 102795189 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01123.hp1 HG02074.hp1 others(6): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0009 | a0001c0001t0001a0001c0002t0002a0005c0009t0002 | a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0020 others(6): Show |
9 | 188 | 0.0479 | 17 | c.-37 others(38): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PAM_chr5_102750305_103034716 | 102836859 | C | CAGAGAGA others(10): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0092 | 1 | 188 | 0.0053 | 17 | c.-37 others(38): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 1/25 | chr5 | TogoVar | |||||||
PAN3_chr13_28133545_28300335 | 28142511 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0124 | 1 | 252 | 0.0040 | 17 | c.430 others(34): Show |
PAN3 | ENSG00000152520.14 | transcript | ENST00000380958.8 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PANK1_chr10_89577988_89650242 | 89595833 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0006 | a0001c0006t0009 | a0001c0006t0009g0058 | 1 | 366 | 0.0027 | 17 | c.900 others(34): Show |
PANK1 | ENSG00000152782.19 | transcript | ENST00000307534.10 | protein_coding | 3/6 | chr10 | TogoVar | |||||||
PANK1_chr10_89577988_89650242 | 89595833 | A | AAAAAAAT others(10): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0278 | 1 | 366 | 0.0027 | 17 | c.900 others(34): Show |
PANK1 | ENSG00000152782.19 | transcript | ENST00000307534.10 | protein_coding | 3/6 | chr10 | TogoVar | |||||||
PANK1_chr10_89577988_89650242 | 89595833 | A | AAAAATAT others(10): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02818.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 a0001c0001t0001g0236 |
2 | 366 | 0.0055 | 17 | c.900 others(34): Show |
PANK1 | ENSG00000152782.19 | transcript | ENST00000307534.10 | protein_coding | 3/6 | chr10 | TogoVar |