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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PIP4K2A_chr10_22529854_22719578 | 22616017 | TGCTGCCC others(17): Show |
T | intron_variant | MODIFIER | HG01070.hp1 HG01358.hp2 HG01496.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0128a0001c0001t0001g0133a0001c0002t0001g0049others(9): Show | 12 | 206 | 0.0583 | -24 | c.145 others(41): Show |
PIP4K2A | ENSG00000150867.14 | transcript | ENST00000376573.9 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
PIP4P2_chr8_90988802_91045859 | 91011019 | GAGATAGA others(17): Show |
G | intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0022 | 1 | 342 | 0.0029 | -24 | c.487 others(41): Show |
PIP4P2 | ENSG00000155099.8 | transcript | ENST00000285419.8 | protein_coding | 4/6 | chr8 | TogoVar | ||||||
PIP4P2_chr8_90988802_91045859 | 91040388 | ACACCATC others(17): Show |
A | intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 342 | 0.0029 | -24 | c.106 others(39): Show |
PIP4P2 | ENSG00000155099.8 | transcript | ENST00000285419.8 | protein_coding | 1/6 | chr8 | TogoVar | ||||||
PIP5K1A_chr1_151193552_151254531 | 151253953 | CAAAAAAA others(17): Show |
C | downstream_gene_variant | MODIFIER | HG03239.hp2 HG03688.hp2 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0316a0001c0001t0008g0317a0001c0001t0008g0318 | 3 | 334 | 0.0090 | -24 | c.*60 others(35): Show |
PIP5K1A | ENSG00000143398.20 | transcript | ENST00000368888.9 | protein_coding | 4423 | chr1 | TogoVar | ||||||
PIP5K1C_chr19_3625183_3705468 | 3643201 | AGCGGATG others(17): Show |
A | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0023 | a0001c0023t0039 | a0001c0023t0039g0327 | 1 | 332 | 0.0030 | -24 | c.164 others(39): Show |
PIP5K1C | ENSG00000186111.11 | transcript | ENST00000335312.8 | protein_coding | 13/17 | chr19 | TogoVar | ||||||
PIP_chr7_143127077_143144739 | 143134183 | CATATATA others(17): Show |
C | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 340 | 0.0029 | -24 | c.96- others(37): Show |
PIP | ENSG00000159763.4 | transcript | ENST00000291009.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
PISD_chr22_31613491_31667215 | 31624712 | GACACACA others(17): Show |
G | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 | 1 | 328 | 0.0031 | -24 | c.322 others(41): Show |
PISD | ENSG00000241878.12 | transcript | ENST00000439502.7 | protein_coding | 3/7 | chr22 | TogoVar | ||||||
PISD_chr22_31613491_31667215 | 31637152 | AAAAAAAA others(17): Show |
A | intron_variant | MODIFIER | HG02622.hp2 HG02970.hp1 HG03209.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0021 | a0001c0001t0006g0066a0001c0001t0006g0067a0001c0001t0006g0095others(4): Show | 7 | 328 | 0.0213 | -24 | c.321 others(43): Show |
PISD | ENSG00000241878.12 | transcript | ENST00000439502.7 | protein_coding | 3/7 | chr22 | TogoVar | ||||||
PISD_chr22_31613491_31667215 | 31637158 | AAAAAAAA others(17): Show |
A | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0093 | 1 | 328 | 0.0031 | -24 | c.321 others(43): Show |
PISD | ENSG00000241878.12 | transcript | ENST00000439502.7 | protein_coding | 3/7 | chr22 | TogoVar | ||||||
PISD_chr22_31613491_31667215 | 31637160 | AAAAAATA others(17): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02257.hp2 HG02559.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0023 | a0001c0001t0002g0024a0001c0001t0002g0025a0001c0001t0023g0026 | 3 | 328 | 0.0092 | -24 | c.321 others(43): Show |
PISD | ENSG00000241878.12 | transcript | ENST00000439502.7 | protein_coding | 3/7 | chr22 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67373892 | GATATATA others(17): Show |
G | upstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0192 | 1 | 218 | 0.0046 | -24 | c.-42 others(35): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 3388 | chr17 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67408673 | TCTTTCTT others(17): Show |
T | intron_variant | MODIFIER | HG02083.hp2 HG03654.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0046a0001c0001t0005g0157 | 2 | 218 | 0.0092 | -24 | c.48+ others(41): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PITPNC1_chr17_67372281_67702256 | 67425197 | GCACACGC others(17): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG01433.hp2 HG01517.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0009others(2): Show | a0001c0001t0002g0207a0001c0001t0005g0152a0001c0001t0009g0194others(3): Show | 6 | 218 | 0.0275 | -24 | c.48+ others(41): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PITPNC1_chr17_67372281_67702256 | 67425203 | GCACACAC others(17): Show |
G | intron_variant | MODIFIER | HG00673.hp1 HG01934.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009 | a0001c0001t0003g0006a0001c0001t0009g0080 | 2 | 218 | 0.0092 | -24 | c.48+ others(41): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PITPNC1_chr17_67372281_67702256 | 67442204 | CATATATA others(17): Show |
C | intron_variant | MODIFIER | HG01884.hp1 NA18953.hp2 NA18983.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0091a0001c0001t0004g0099a0001c0001t0004g0130 | 3 | 218 | 0.0138 | -24 | c.48+ others(41): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PITPNC1_chr17_67372281_67702256 | 67513353 | GTATCTAT others(17): Show |
G | intron_variant | MODIFIER | HG03041.hp1 HG03098.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006a0001c0001t0013 | a0001c0001t0005g0110a0001c0001t0006g0176a0001c0001t0013g0083 | 3 | 218 | 0.0138 | -24 | c.49- others(41): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PITPNC1_chr17_67372281_67702256 | 67583889 | GTGTGTGT others(17): Show |
G | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0048 | 1 | 218 | 0.0046 | -24 | c.366 others(41): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PITPNM2_chr12_122978480_123156090 | 123017984 | TTTCCTTC others(17): Show |
T | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 230 | 0.0044 | -24 | c.79- others(39): Show |
PITPNM2 | ENSG00000090975.14 | transcript | ENST00000320201.10 | protein_coding | 3/25 | chr12 | TogoVar | ||||||
PITPNM2_chr12_122978480_123156090 | 123128264 | CAAAAAAA others(17): Show |
C | intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0161 | 1 | 230 | 0.0044 | -24 | c.-19 others(45): Show |
PITPNM2 | ENSG00000090975.14 | transcript | ENST00000320201.10 | protein_coding | 1/25 | chr12 | TogoVar | ||||||
PITPNM3_chr17_6446263_6561555 | 6448977 | TCCGTAAA others(17): Show |
T | downstream_gene_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0138 | 1 | 218 | 0.0046 | -24 | c.*63 others(35): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 2285 | chr17 | TogoVar | ||||||
PITPNM3_chr17_6446263_6561555 | 6452047 | ATACAGTT others(17): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0138 | 1 | 218 | 0.0046 | -24 | c.*32 others(35): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 20/20 | 3267 | chr17 | TogoVar | |||||
PIWIL1_chr12_130332887_130377637 | 130372597 | CAAAAAAA others(17): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(98): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0020a0001c0001t0038others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0011others(73): Show | 101 | 425 | 0.2377 | -24 | c.*94 others(33): Show |
PIWIL1 | ENSG00000125207.7 | transcript | ENST00000245255.7 | protein_coding | 21/21 | 943 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||
PIWIL2_chr8_22270316_22362568 | 22351440 | CATATATA others(17): Show |
C | intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 296 | 0.0034 | -24 | c.240 others(43): Show |
PIWIL2 | ENSG00000197181.12 | transcript | ENST00000356766.11 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PKD1L1_chr7_47769614_47953466 | 47864576 | TTTTCTTT others(17): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG01981.hp2 HG03579.hp1 others(1): Show |
a0013a0016a0028others(1): Show | a0013c0020a0016c0022a0028c0078others(1): Show | a0013c0020t0001a0016c0022t0001a0028c0078t0001others(1): Show | a0013c0020t0001g0039a0016c0022t0001g0231a0028c0078t0001g0014others(1): Show | 4 | 306 | 0.0131 | -24 | c.414 others(41): Show |
PKD1L1 | ENSG00000158683.10 | transcript | ENST00000289672.7 | protein_coding | 26/56 | chr7 | TogoVar | ||||||
PKD1L1_chr7_47769614_47953466 | 47943161 | AAAATATA others(17): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG01109.hp1 others(73): Show |
a0001a0002a0003others(31): Show | a0001c0013a0002c0019a0002c0156others(45): Show | a0001c0013t0001a0002c0019t0001a0002c0156t0001others(46): Show | a0001c0013t0001g0016a0002c0019t0001g0261a0002c0019t0001g0276others(73): Show | 76 | 306 | 0.2484 | -24 | c.160 others(39): Show |
PKD1L1 | ENSG00000158683.10 | transcript | ENST00000289672.7 | protein_coding | 2/56 | chr7 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71945297 | TATATATA others(17): Show |
T | intron_variant | MODIFIER | NA18999.hp2 | a0005 | a0005c0003 | a0005c0003t0001 | a0005c0003t0001g0183 | 1 | 308 | 0.0033 | -24 | c.371 others(43): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71945305 | TACACACA others(17): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00741.hp2 others(34): Show |
a0001a0002a0004others(7): Show | a0001c0001a0002c0002a0004c0005others(8): Show | a0001c0001t0001a0002c0002t0001a0004c0005t0001others(8): Show | a0001c0001t0001g0211a0001c0001t0001g0218a0001c0001t0001g0228others(34): Show | 37 | 308 | 0.1201 | -24 | c.371 others(43): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71964309 | CTTTTTTT others(17): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(88): Show |
a0001a0002a0007others(24): Show | a0001c0001a0002c0002a0002c0044others(28): Show | a0001c0001t0001a0002c0002t0001a0002c0044t0001others(29): Show | a0001c0001t0001g0199a0001c0001t0001g0206a0002c0002t0001g0051others(88): Show | 91 | 308 | 0.2955 | -24 | c.246 others(41): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 15/29 | chr16 | TogoVar | ||||||
PKD2L1_chr10_100283149_100335228 | 100321663 | AAAAGAAA others(17): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG01081.hp1 HG01106.hp1 others(10): Show |
a0001a0006a0007others(1): Show | a0001c0001a0001c0002a0006c0007others(2): Show | a0001c0001t0001a0001c0002t0001a0006c0007t0001others(2): Show | a0001c0001t0001g0076a0001c0001t0001g0084a0001c0001t0001g0095others(10): Show | 13 | 306 | 0.0425 | -24 | c.349 others(41): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
PKD2L1_chr10_100283149_100335228 | 100321734 | AGAAAGAA others(17): Show |
A | intron_variant | MODIFIER | NA18944.hp2 NA18998.hp1 |
a0002a0003 | a0002c0003a0003c0004 | a0002c0003t0001a0003c0004t0001 | a0002c0003t0001g0171a0003c0004t0001g0170 | 2 | 306 | 0.0065 | -24 | c.349 others(41): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
PKD2L1_chr10_100283149_100335228 | 100321738 | AGAAAGAA others(17): Show |
A | intron_variant | MODIFIER | HG01168.hp1 HG01168.hp2 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087a0001c0001t0001g0088a0001c0001t0001g0163 | 3 | 306 | 0.0098 | -24 | c.349 others(41): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
PKD2L1_chr10_100283149_100335228 | 100321742 | AGAAAGAA others(17): Show |
A | intron_variant | MODIFIER | HG01517.hp1 HG02735.hp2 HG03209.hp2 |
a0001a0004a0006 | a0001c0001a0004c0022a0006c0007 | a0001c0001t0001a0004c0022t0001a0006c0007t0001 | a0001c0001t0001g0202a0004c0022t0001g0217a0006c0007t0001g0024 | 3 | 306 | 0.0098 | -24 | c.349 others(41): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
PKD2L1_chr10_100283149_100335228 | 100321750 | AGAAAGAA others(17): Show |
A | intron_variant | MODIFIER | HG04184.hp1 | a0008 | a0008c0012 | a0008c0012t0001 | a0008c0012t0001g0017 | 1 | 306 | 0.0033 | -24 | c.349 others(41): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
PKD2L1_chr10_100283149_100335228 | 100321788 | GAGGGAGG others(17): Show |
G | intron_variant | MODIFIER | HG03704.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0207 | 1 | 306 | 0.0033 | -24 | c.349 others(41): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
PKDCC_chr2_42043021_42063517 | 42060668 | TGGGAAGG others(17): Show |
T | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02559.hp1 |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0036 | 2 | 432 | 0.0046 | -24 | c.*29 others(35): Show |
PKDCC | ENSG00000162878.13 | transcript | ENST00000294964.6 | protein_coding | 2152 | chr2 | TogoVar | ||||||
PKHD1L1_chr8_109357461_109542207 | 109389499 | AGTGTGTG others(17): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 NA18944.hp1 others(1): Show |
a0004a0028 | a0004c0004a0028c0057 | a0004c0004t0001a0004c0004t0041a0028c0057t0001 | a0004c0004t0001g0241a0004c0004t0001g0242a0004c0004t0041g0243others(1): Show | 4 | 282 | 0.0142 | -24 | c.697 others(39): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 8/77 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PKHD1L1_chr8_109357461_109542207 | 109538093 | AGGCTGGA others(17): Show |
A | downstream_gene_variant | MODIFIER | HG02572.hp2 HG03130.hp1 HG03225.hp2 others(1): Show |
a0016a0060 | a0016c0013a0060c0044 | a0016c0013t0012a0060c0044t0012 | a0016c0013t0012g0136a0016c0013t0012g0137a0016c0013t0012g0138others(1): Show | 4 | 282 | 0.0142 | -24 | c.*80 others(35): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 887 | chr8 | TogoVar | ||||||
PKIB_chr6_122605405_122731373 | 122677842 | TCTTCCTT others(17): Show |
T | intron_variant | MODIFIER | HG00099.hp2 NA19055.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0039a0001c0001t0004g0268a0001c0001t0004g0269 | 3 | 312 | 0.0096 | -24 | c.-9+ others(39): Show |
PKIB | ENSG00000135549.16 | transcript | ENST00000368452.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PKIB_chr6_122605405_122731373 | 122719716 | TACACACA others(17): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG02615.hp2 HG02630.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0007a0001c0001t0004g0104a0001c0001t0004g0143others(4): Show | 7 | 312 | 0.0224 | -24 | c.169 others(41): Show |
PKIB | ENSG00000135549.16 | transcript | ENST00000368452.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PKLR_chr1_155284293_155306438 | 155290989 | AAATAATA others(17): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG03491.hp1 NA18980.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027a0001c0001t0001g0030a0001c0001t0001g0063others(4): Show | 9 | 311 | 0.0289 | -24 | c.161 others(41): Show |
PKLR | ENSG00000143627.19 | transcript | ENST00000342741.6 | protein_coding | 10/10 | chr1 | TogoVar | ||||||
PKM_chr15_72194029_72236190 | 72209435 | ATATATGT others(17): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG01081.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0013a0001c0001t0001g0045a0001c0001t0001g0062others(18): Show | 22 | 370 | 0.0595 | -24 | c.565 others(39): Show |
PKM | ENSG00000067225.21 | transcript | ENST00000335181.10 | protein_coding | 5/10 | chr15 | TogoVar | ||||||
PKN2_chr1_88679273_88841255 | 88820180 | CTATATAT others(17): Show |
C | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0158 | 1 | 330 | 0.0030 | -24 | c.228 others(43): Show |
PKN2 | ENSG00000065243.20 | transcript | ENST00000370521.8 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PKNOX1_chr21_42969562_43038931 | 43018474 | CCACACAC others(17): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00642.hp2 HG02056.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0025a0001c0001t0047others(1): Show | a0001c0001t0002g0187a0001c0001t0002g0194a0001c0001t0002g0213others(5): Show | 8 | 362 | 0.0221 | -24 | c.720 others(39): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PKNOX2_chr11_125159751_125438389 | 125189435 | GTGTGTGT others(17): Show |
G | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0176 | 1 | 222 | 0.0045 | -24 | c.-20 others(45): Show |
PKNOX2 | ENSG00000165495.16 | transcript | ENST00000298282.14 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PKNOX2_chr11_125159751_125438389 | 125222780 | TGTGTGTA others(17): Show |
T | intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0132 | 1 | 222 | 0.0045 | -24 | c.-20 others(45): Show |
PKNOX2 | ENSG00000165495.16 | transcript | ENST00000298282.14 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PKP1_chr1_201278506_201337989 | 201316133 | CGGACGGA others(17): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(45): Show |
a0001a0002 | a0001c0003a0001c0005a0001c0019others(1): Show | a0001c0003t0003a0001c0003t0014a0001c0003t0036others(11): Show | a0001c0003t0003g0003a0001c0003t0003g0006a0001c0003t0003g0009others(33): Show | 48 | 334 | 0.1437 | -24 | c.702 others(39): Show |
PKP1 | ENSG00000081277.13 | transcript | ENST00000367324.8 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PKP3_chr11_389209_409908 | 399366 | ACCCCCCC others(17): Show |
A | intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0148 | 1 | 216 | 0.0046 | -24 | c.127 others(41): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PKP3_chr11_389209_409908 | 402113 | CCCCCGGC others(17): Show |
C | intron_variant | MODIFIER | HG02886.hp2 | a0018 | a0018c0026 | a0018c0026t0004 | a0018c0026t0004g0092 | 1 | 216 | 0.0046 | -24 | c.173 others(41): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PKP3_chr11_389209_409908 | 402436 | GGCTCCAC others(17): Show |
G | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 216 | 0.0046 | -24 | c.173 others(41): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | chr11 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 402551 | CGACCCCC others(17): Show |
C | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0006 | 1 | 216 | 0.0046 | -24 | c.173 others(41): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |