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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PALMD_chr1_99641113_99699535 | 99683038 | AAGAAAGA others(43): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00735.hp2 HG00741.hp1 others(35): Show |
a0001a0010 | a0001c0001a0010c0013 | a0001c0001t0001a0010c0013t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(32): Show |
38 | 378 | 0.1005 | -50 | c.252 others(67): Show |
PALMD | ENSG00000099260.12 | transcript | ENST00000263174.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69300898 | TTCCTTCC others(43): Show |
T | intron_variant | MODIFIER | HG02109.hp2 NA18986.hp2 NA19000.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0003g0131 |
3 | 278 | 0.0108 | -50 | c.-27 others(69): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69300900 | CCTTCCTT others(43): Show |
C | intron_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0004 | 1 | 270 | 0.0037 | -50 | c.-27 others(69): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PARVB_chr22_44019302_44177939 | 44122512 | GAGAGAGA others(43): Show |
G | intron_variant | MODIFIER | HG02258.hp2 HG02630.hp2 HG03225.hp1 others(4): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0006others(1): Show | a0001c0001t0008a0001c0001t0009a0001c0001t0023others(4): Show | a0001c0001t0008g0149 a0001c0001t0009g0321 a0001c0001t0023g0109 others(4): Show |
7 | 321 | 0.0218 | -50 | c.376 others(67): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PAX5_chr9_36828269_37039268 | 36973083 | CGGAAAGG others(43): Show |
C | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0002 | a0001c0002t0063 | a0001c0002t0063g0097 | 1 | 216 | 0.0046 | -50 | c.605 others(67): Show |
PAX5 | ENSG00000196092.14 | transcript | ENST00000358127.9 | protein_coding | 5/9 | chr9 | TogoVar | |||||||
PAX5_chr9_36828269_37039268 | 36973085 | GAAAGGAA others(43): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00544.hp2 others(68): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 others(68): Show |
71 | 247 | 0.2874 | -50 | c.605 others(67): Show |
PAX5 | ENSG00000196092.14 | transcript | ENST00000358127.9 | protein_coding | 5/9 | chr9 | TogoVar | |||||||
PAXBP1_chr21_32728899_32776755 | 32771859 | TGAGAGAG others(43): Show |
T | upstream_gene_variant | MODIFIER | HG01256.hp2 HG03710.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0063 |
2 | 338 | 0.0059 | -50 | c.-24 others(59): Show |
PAXBP1 | ENSG00000159086.15 | transcript | ENST00000331923.9 | protein_coding | 105 | chr21 | TogoVar | |||||||
PAXBP1_chr21_32728899_32776755 | 32771899 | AGAGAGAG others(43): Show |
A | upstream_gene_variant | MODIFIER | HG01952.hp1 HG02148.hp2 HG02257.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0028 others(5): Show |
8 | 358 | 0.0223 | -50 | c.-28 others(59): Show |
PAXBP1 | ENSG00000159086.15 | transcript | ENST00000331923.9 | protein_coding | 145 | chr21 | TogoVar | |||||||
PBDC1_chrX_76168062_76183314 | 76178074 | CCCTTGTA others(43): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 291 | 0.0034 | -50 | c.*17 others(59): Show |
PBDC1 | ENSG00000102390.11 | transcript | ENST00000373358.8 | protein_coding | 6/6 | 170 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PBX3_chr9_125742373_125972377 | 125780716 | ACGGGGGG others(43): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG03710.hp1 HG03927.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0171 a0001c0001t0003g0170 a0001c0001t0003g0172 |
3 | 292 | 0.0103 | -50 | c.274 others(69): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45814442 | GGTGAGTG others(43): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(183): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(21): Show | a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0038 others(182): Show |
186 | 290 | 0.6414 | -50 | c.-12 others(71): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45861400 | TGCCCCAG others(43): Show |
T | intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0104 | 1 | 290 | 0.0034 | -50 | c.10+ others(67): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 54307054 | ATATATAT others(43): Show |
A | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 100 | 0.0100 | -50 | c.876 others(69): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 8/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 54307054 | ATATATAT others(43): Show |
A | intron_variant | MODIFIER | HG03579.hp2 | a0028 | a0028c0038 | a0028c0038t0001 | a0028c0038t0001g0093 | 1 | 92 | 0.0109 | -50 | c.876 others(69): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 8/32 | chr10 | TogoVar | |||||||
PCGF3_chr4_700832_775089 | 731848 | TCCCCTCC others(43): Show |
T | intron_variant | MODIFIER | NA18945.hp2 NA18984.hp2 NA18999.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0006 a0001c0001t0007g0304 |
3 | 355 | 0.0085 | -50 | c.-10 others(65): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCSK4_chr19_1476428_1495350 | 1482605 | TTGCACAC others(43): Show |
T | intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0071 | 1 | 398 | 0.0025 | -50 | c.169 others(67): Show |
PCSK4 | ENSG00000115257.15 | transcript | ENST00000300954.10 | protein_coding | 13/14 | chr19 | TogoVar | |||||||
PCSK6_chr15_101298933_101494707 | 101309833 | CCGGCCCC others(43): Show |
C | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0215 | 1 | 334 | 0.0030 | -50 | c.270 others(69): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 20/21 | chr15 | TogoVar | |||||||
PCSK6_chr15_101298933_101494707 | 101312089 | ACCCTCAC others(43): Show |
A | intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0049 | 1 | 290 | 0.0034 | -50 | c.269 others(69): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 20/21 | chr15 | TogoVar | |||||||
PDCD1_chr2_241844884_241863894 | 241846943 | GTGAGTTC others(43): Show |
G | downstream_gene_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0018 | 1 | 406 | 0.0025 | -50 | c.*40 others(61): Show |
PDCD1 | ENSG00000188389.11 | transcript | ENST00000334409.10 | protein_coding | 2940 | chr2 | TogoVar | |||||||
PDCD1_chr2_241844884_241863894 | 241847134 | ATGAGAGC others(43): Show |
A | downstream_gene_variant | MODIFIER | HG01496.hp1 HG03041.hp1 HG03486.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0001a0003c0008t0001 | a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0050 others(1): Show |
4 | 406 | 0.0099 | -50 | c.*38 others(61): Show |
PDCD1 | ENSG00000188389.11 | transcript | ENST00000334409.10 | protein_coding | 2749 | chr2 | TogoVar | |||||||
PDCD1_chr2_241844884_241863894 | 241847173 | TGAATGGG others(43): Show |
T | downstream_gene_variant | MODIFIER | HG02258.hp2 HG03471.hp1 HG03927.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0016g0122 |
4 | 406 | 0.0099 | -50 | c.*38 others(61): Show |
PDCD1 | ENSG00000188389.11 | transcript | ENST00000334409.10 | protein_coding | 2710 | chr2 | TogoVar | |||||||
PDCD1_chr2_241844884_241863894 | 241847638 | AAGCCTTG others(43): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(83): Show |
a0001 | a0001c0001a0001c0006a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0014 others(25): Show |
86 | 402 | 0.2139 | -50 | c.*33 others(61): Show |
PDCD1 | ENSG00000188389.11 | transcript | ENST00000334409.10 | protein_coding | 2245 | chr2 | TogoVar | |||||||
PDCD1_chr2_241844884_241863894 | 241847934 | TTGAGAGC others(43): Show |
T | downstream_gene_variant | MODIFIER | HG02258.hp2 HG03471.hp1 HG03927.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0016g0122 |
4 | 406 | 0.0099 | -50 | c.*30 others(61): Show |
PDCD1 | ENSG00000188389.11 | transcript | ENST00000334409.10 | protein_coding | 1949 | chr2 | TogoVar | |||||||
PDCL2_chr4_55551519_55597245 | 55565886 | AACCCATT others(43): Show |
A | intron_variant | MODIFIER | HG02559.hp1 HG02895.hp2 HG02896.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0085 a0001c0001t0001g0086 others(2): Show |
6 | 374 | 0.0160 | -50 | c.363 others(67): Show |
PDCL2 | ENSG00000163440.12 | transcript | ENST00000295645.9 | protein_coding | 4/5 | chr4 | TogoVar | |||||||
PDE11A_chr2_177618244_178077777 | 177946635 | TGGGGGGG others(43): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00558.hp2 HG00609.hp2 others(33): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0005others(8): Show | a0001c0001t0017a0001c0001t0025a0001c0003t0002others(23): Show | a0001c0001t0017g0095 a0001c0001t0025g0096 a0001c0001t0025g0103 others(33): Show |
36 | 161 | 0.2236 | -50 | c.107 others(71): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 2/19 | chr2 | TogoVar | |||||||
PDE6B_chr4_620573_675782 | 635174 | CGTCCACC others(43): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00621.hp2 others(19): Show |
a0001a0003 | a0001c0001a0001c0012a0001c0029others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0116 others(17): Show |
22 | 305 | 0.0721 | -50 | c.621 others(65): Show |
PDE6B | ENSG00000133256.13 | transcript | ENST00000496514.6 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PDE6B_chr4_620573_675782 | 635479 | CCCTGCCT others(43): Show |
C | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0062 | 1 | 306 | 0.0033 | -50 | c.622 others(65): Show |
PDE6B | ENSG00000133256.13 | transcript | ENST00000496514.6 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PDE6B_chr4_620573_675782 | 651223 | GGCAGTGG others(43): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG01358.hp2 HG01517.hp1 others(3): Show |
a0001a0004a0008 | a0001c0001a0004c0007a0008c0028 | a0001c0001t0002a0001c0001t0006a0004c0007t0008others(1): Show | a0001c0001t0002g0144 a0001c0001t0006g0240 a0004c0007t0008g0237 others(3): Show |
6 | 305 | 0.0197 | -50 | c.712 others(67): Show |
PDE6B | ENSG00000133256.13 | transcript | ENST00000496514.6 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PDE9A_chr21_42648621_42780509 | 42670359 | CACACACA others(43): Show |
C | intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 | 1 | 322 | 0.0031 | -50 | c.70- others(67): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDE9A_chr21_42648621_42780509 | 42670375 | CACATTCA others(43): Show |
C | intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0157 | 1 | 314 | 0.0032 | -50 | c.70- others(67): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDGFRA_chr4_54224293_54303245 | 54276282 | TGAGTAAT others(43): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG02559.hp1 HG02809.hp1 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0028 others(7): Show |
10 | 298 | 0.0336 | -50 | c.178 others(69): Show |
PDGFRA | ENSG00000134853.12 | transcript | ENST00000257290.10 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PDHX_chr11_34911618_35001128 | 34995435 | AAAGGGAA others(43): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0191 | 1 | 312 | 0.0032 | -50 | c.*26 others(59): Show |
PDHX | ENSG00000110435.13 | transcript | ENST00000227868.9 | protein_coding | 11/11 | 265 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PDXK_chr21_43714129_43767299 | 43731656 | TGTTGTGG others(43): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02647.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0026 | a0001c0001t0004g0196 a0001c0001t0026g0031 a0001c0001t0026g0195 |
3 | 356 | 0.0084 | -50 | c.88- others(65): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31849988 | ATATACAC others(43): Show |
A | intron_variant | MODIFIER | HG01358.hp1 HG01884.hp1 HG02055.hp2 others(8): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0007a0001c0062others(5): Show | a0001c0001t0001a0001c0001t0008a0001c0007t0009others(6): Show | a0001c0001t0001g0084 a0001c0001t0001g0098 a0001c0001t0001g0120 others(8): Show |
11 | 214 | 0.0514 | -50 | c.476 others(69): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDZD7_chr10_101002679_101036129 | 101017863 | GAAAGAAA others(43): Show |
G | intron_variant | MODIFIER | HG02630.hp1 | a0004 | a0004c0004 | a0004c0004t0011 | a0004c0004t0011g0101 | 1 | 429 | 0.0023 | -50 | c.152 others(67): Show |
PDZD7 | ENSG00000186862.20 | transcript | ENST00000619208.6 | protein_coding | 9/16 | chr10 | TogoVar | |||||||
PEAK1_chr15_77103158_77425104 | 77300542 | ACACCCAG others(43): Show |
A | intron_variant | MODIFIER | NA19084.hp1 | a0003 | a0003c0003 | a0003c0003t0013 | a0003c0003t0013g0177 | 1 | 324 | 0.0031 | -50 | c.-60 others(71): Show |
PEAK1 | ENSG00000173517.11 | transcript | ENST00000682557.1 | protein_coding | 2/9 | chr15 | TogoVar | |||||||
PEAR1_chr1_156888718_156921429 | 156911154 | TTTTCTTT others(43): Show |
T | intron_variant | MODIFIER | NA19240.hp2 | a0021 | a0021c0055 | a0021c0055t0001 | a0021c0055t0001g0112 | 1 | 382 | 0.0026 | -50 | c.195 others(67): Show |
PEAR1 | ENSG00000187800.14 | transcript | ENST00000292357.8 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PEMT_chr17_17500563_17596708 | 17586197 | GGAAAGAA others(43): Show |
G | intron_variant | MODIFIER | HG02572.hp2 HG02818.hp1 |
a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0015 a0005c0006t0001g0016 |
2 | 339 | 0.0059 | -50 | c.96+ others(65): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | TogoVar | |||||||
PFKFB3_chr10_6197932_6240532 | 6210533 | TGTGTTTT others(43): Show |
T | intron_variant | MODIFIER | HG02258.hp2 HG02965.hp1 HG02976.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0027a0001c0001t0028a0001c0002t0035 | a0001c0001t0027g0035 a0001c0001t0027g0036 a0001c0001t0028g0037 others(1): Show |
4 | 321 | 0.0125 | -50 | c.77- others(65): Show |
PFKFB3 | ENSG00000170525.21 | transcript | ENST00000379775.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKFB3_chr10_6197932_6240532 | 6210860 | ATGTTAGC others(43): Show |
A | intron_variant | MODIFIER | NA18939.hp2 NA19088.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0025 | a0001c0001t0001g0075 a0001c0003t0025g0094 |
2 | 419 | 0.0048 | -50 | c.77- others(65): Show |
PFKFB3 | ENSG00000170525.21 | transcript | ENST00000379775.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59819744 | TTGGGCCG others(43): Show |
T | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0197 | 1 | 248 | 0.0040 | -50 | c.132 others(71): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHF21B_chr22_44876162_45015005 | 44889982 | TACCCCAG others(43): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(92): Show |
a0001a0002a0005 | a0001c0001a0001c0006a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0028 a0001c0001t0001g0040 a0001c0001t0001g0041 others(92): Show |
95 | 298 | 0.3188 | -50 | c.101 others(67): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 8/12 | chr22 | TogoVar | |||||||
PI4K2A_chr10_97635671_97681434 | 97678880 | GGTGTGTG others(43): Show |
G | downstream_gene_variant | MODIFIER | HG02074.hp1 HG03041.hp1 HG03471.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0005a0001c0002t0009others(1): Show | a0001c0001t0001g0144 a0001c0001t0001g0151 a0001c0002t0005g0077 others(3): Show |
6 | 149 | 0.0403 | -50 | c.*51 others(61): Show |
PI4K2A | ENSG00000155252.14 | transcript | ENST00000370631.4 | protein_coding | 2447 | chr10 | TogoVar | |||||||
PID1_chr2_229018973_229276287 | 229139031 | GAAAGAAA others(43): Show |
G | intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0177 | 1 | 245 | 0.0041 | -50 | c.177 others(69): Show |
PID1 | ENSG00000153823.19 | transcript | ENST00000392055.8 | protein_coding | 2/2 | chr2 | TogoVar | |||||||
PID1_chr2_229018973_229276287 | 229139065 | AAGAAAGA others(43): Show |
A | intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 253 | 0.0040 | -50 | c.177 others(69): Show |
PID1 | ENSG00000153823.19 | transcript | ENST00000392055.8 | protein_coding | 2/2 | chr2 | TogoVar | |||||||
PIEZO2_chr18_10665247_11154569 | 10720391 | GTGTGTGT others(43): Show |
G | intron_variant | MODIFIER | HG00438.hp1 NA18941.hp2 NA18994.hp2 |
a0003a0004a0016 | a0003c0012a0004c0022a0016c0027 | a0003c0012t0001a0004c0022t0002a0016c0027t0002 | a0003c0012t0001g0053 a0004c0022t0002g0042 a0016c0027t0002g0013 |
3 | 142 | 0.0211 | -50 | c.503 others(69): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 36/55 | chr18 | TogoVar | |||||||
PIEZO2_chr18_10665247_11154569 | 10720393 | GTGTGTGT others(43): Show |
G | intron_variant | MODIFIER | NA19063.hp1 | a0004 | a0004c0049 | a0004c0049t0002 | a0004c0049t0002g0102 | 1 | 155 | 0.0065 | -50 | c.503 others(69): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 36/55 | chr18 | TogoVar | |||||||
PIGQ_chr16_564968_589109 | 578024 | AGGCCTCA others(43): Show |
A | intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0288 | 1 | 406 | 0.0025 | -50 | c.943 others(65): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PIGU_chr20_34555542_34682092 | 34631722 | CATATATA others(43): Show |
C | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0249 | 1 | 292 | 0.0034 | -50 | c.529 others(67): Show |
PIGU | ENSG00000101464.11 | transcript | ENST00000217446.8 | protein_coding | 6/11 | chr20 | TogoVar | |||||||
PIGU_chr20_34555542_34682092 | 34631737 | ATATATAT others(43): Show |
A | intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0276 | 1 | 318 | 0.0031 | -50 | c.529 others(67): Show |
PIGU | ENSG00000101464.11 | transcript | ENST00000217446.8 | protein_coding | 6/11 | chr20 | TogoVar |