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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PCDHGB4_chr5_141382698_141517975 | 141438629 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG01175.hp2 HG01433.hp2 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0053a0001c0001t0001g0058a0001c0001t0001g0088others(27): Show | 30 | 294 | 0.1020 | -12 | c.239 others(33): Show |
PCDHGB4 | ENSG00000253953.3 | transcript | ENST00000519479.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB4_chr5_141382698_141517975 | 141438631 | TATATACA others(5): Show |
T | intron_variant | MODIFIER | HG01255.hp2 HG01346.hp2 |
a0001a0010 | a0001c0001a0010c0012 | a0001c0001t0002a0010c0012t0002 | a0001c0001t0002g0266a0010c0012t0002g0082 | 2 | 294 | 0.0068 | -12 | c.239 others(33): Show |
PCDHGB4 | ENSG00000253953.3 | transcript | ENST00000519479.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB4_chr5_141382698_141517975 | 141455860 | ATTATTTA others(5): Show |
A | intron_variant | MODIFIER | HG01934.hp2 HG02145.hp2 HG02451.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0005a0001c0001t0013a0001c0003t0001 | a0001c0001t0005g0226a0001c0001t0005g0227a0001c0001t0005g0228others(2): Show | 5 | 294 | 0.0170 | -12 | c.239 others(33): Show |
PCDHGB4 | ENSG00000253953.3 | transcript | ENST00000519479.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB4_chr5_141382698_141517975 | 141482956 | CCAGCTAC others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(147): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(147): Show | 150 | 294 | 0.5102 | -12 | c.239 others(33): Show |
PCDHGB4 | ENSG00000253953.3 | transcript | ENST00000519479.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB4_chr5_141382698_141517975 | 141498971 | GGGAAGGA others(5): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(57): Show |
a0001a0006a0009others(1): Show | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0088a0001c0001t0001g0089a0001c0001t0001g0099others(57): Show | 60 | 294 | 0.2041 | -12 | c.245 others(31): Show |
PCDHGB4 | ENSG00000253953.3 | transcript | ENST00000519479.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB5_chr5_141392947_141517975 | 141395542 | TTGTGTGT others(5): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(96): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0008others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(16): Show | a0001c0001t0001g0214a0001c0001t0001g0221a0001c0001t0001g0222others(96): Show | 99 | 300 | 0.3300 | -12 | c.-25 others(23): Show |
PCDHGB5 | ENSG00000276547.2 | transcript | ENST00000617380.2 | protein_coding | 2404 | chr5 | TogoVar | ||||||
PCDHGB5_chr5_141392947_141517975 | 141433358 | CCTATCTA others(5): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG01516.hp1 NA18970.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0004 | a0001c0001t0001g0223a0002c0002t0004g0048a0002c0002t0004g0049 | 3 | 300 | 0.0100 | -12 | c.239 others(33): Show |
PCDHGB5 | ENSG00000276547.2 | transcript | ENST00000617380.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB5_chr5_141392947_141517975 | 141438583 | CATACATA others(5): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG01243.hp2 HG01346.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0263a0001c0001t0002g0003a0001c0001t0002g0005others(5): Show | 8 | 300 | 0.0267 | -12 | c.239 others(33): Show |
PCDHGB5 | ENSG00000276547.2 | transcript | ENST00000617380.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB5_chr5_141392947_141517975 | 141438625 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG01928.hp2 NA19002.hp2 NA19082.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0130a0001c0001t0001g0146a0001c0001t0016g0170 | 3 | 300 | 0.0100 | -12 | c.239 others(33): Show |
PCDHGB5 | ENSG00000276547.2 | transcript | ENST00000617380.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB5_chr5_141392947_141517975 | 141438627 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02723.hp2 NA18522.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0205a0001c0001t0001g0208a0002c0002t0002g0072 | 3 | 300 | 0.0100 | -12 | c.239 others(33): Show |
PCDHGB5 | ENSG00000276547.2 | transcript | ENST00000617380.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB5_chr5_141392947_141517975 | 141438629 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG01175.hp2 HG01433.hp2 others(28): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0009others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(9): Show | a0001c0001t0001g0214a0001c0001t0001g0223a0001c0001t0001g0274others(28): Show | 31 | 300 | 0.1033 | -12 | c.239 others(33): Show |
PCDHGB5 | ENSG00000276547.2 | transcript | ENST00000617380.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB5_chr5_141392947_141517975 | 141438631 | TATATACA others(5): Show |
T | intron_variant | MODIFIER | HG01255.hp2 HG01346.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0258a0001c0001t0003g0259 | 2 | 300 | 0.0067 | -12 | c.239 others(33): Show |
PCDHGB5 | ENSG00000276547.2 | transcript | ENST00000617380.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB5_chr5_141392947_141517975 | 141455860 | ATTATTTA others(5): Show |
A | intron_variant | MODIFIER | HG01934.hp2 HG02145.hp2 HG02451.hp2 others(2): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0007 | a0001c0001t0019a0002c0002t0022a0006c0007t0011 | a0001c0001t0019g0117a0002c0002t0022g0052a0006c0007t0011g0260others(2): Show | 5 | 300 | 0.0167 | -12 | c.239 others(33): Show |
PCDHGB5 | ENSG00000276547.2 | transcript | ENST00000617380.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB5_chr5_141392947_141517975 | 141482956 | CCAGCTAC others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(149): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0004a0001c0008others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0120a0001c0001t0001g0121a0001c0001t0001g0263others(149): Show | 152 | 300 | 0.5067 | -12 | c.239 others(33): Show |
PCDHGB5 | ENSG00000276547.2 | transcript | ENST00000617380.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB5_chr5_141392947_141517975 | 141498971 | GGGAAGGA others(5): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(59): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0153a0001c0001t0001g0189a0001c0001t0002g0116others(59): Show | 62 | 300 | 0.2067 | -12 | c.245 others(31): Show |
PCDHGB5 | ENSG00000276547.2 | transcript | ENST00000617380.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB6_chr5_141403021_141517975 | 141433358 | CCTATCTA others(5): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG01516.hp2 NA18970.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003 | a0001c0001t0001g0096a0002c0002t0003g0216a0002c0002t0003g0217 | 3 | 302 | 0.0099 | -12 | c.241 others(33): Show |
PCDHGB6 | ENSG00000253305.3 | transcript | ENST00000520790.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB6_chr5_141403021_141517975 | 141438583 | CATACATA others(5): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG01243.hp2 HG01346.hp2 others(5): Show |
a0001a0002a0004 | a0001c0006a0002c0003a0002c0005others(1): Show | a0001c0006t0001a0002c0003t0001a0002c0005t0001others(1): Show | a0001c0006t0001g0266a0002c0003t0001g0155a0002c0003t0001g0159others(5): Show | 8 | 302 | 0.0265 | -12 | c.241 others(33): Show |
PCDHGB6 | ENSG00000253305.3 | transcript | ENST00000520790.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB6_chr5_141403021_141517975 | 141438625 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG01928.hp1 NA19002.hp1 NA19082.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0009a0001c0001t0001g0031a0001c0001t0009g0058 | 3 | 302 | 0.0099 | -12 | c.241 others(33): Show |
PCDHGB6 | ENSG00000253305.3 | transcript | ENST00000520790.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB6_chr5_141403021_141517975 | 141438627 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02723.hp2 NA18522.hp2 |
a0002a0005a0011 | a0002c0002a0005c0007a0011c0020 | a0002c0002t0001a0005c0007t0001a0011c0020t0001 | a0002c0002t0001g0220a0005c0007t0001g0152a0011c0020t0001g0283 | 3 | 302 | 0.0099 | -12 | c.241 others(33): Show |
PCDHGB6 | ENSG00000253305.3 | transcript | ENST00000520790.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB6_chr5_141403021_141517975 | 141438629 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG01175.hp1 HG01433.hp2 others(28): Show |
a0001a0003a0007others(1): Show | a0001c0001a0001c0006a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0092a0001c0001t0001g0096a0001c0001t0001g0111others(28): Show | 31 | 302 | 0.1027 | -12 | c.241 others(33): Show |
PCDHGB6 | ENSG00000253305.3 | transcript | ENST00000520790.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB6_chr5_141403021_141517975 | 141438631 | TATATACA others(5): Show |
T | intron_variant | MODIFIER | HG01255.hp2 HG01346.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0104a0001c0001t0002g0105 | 2 | 302 | 0.0066 | -12 | c.241 others(33): Show |
PCDHGB6 | ENSG00000253305.3 | transcript | ENST00000520790.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB6_chr5_141403021_141517975 | 141455860 | ATTATTTA others(5): Show |
A | intron_variant | MODIFIER | HG01934.hp1 HG02145.hp2 HG02451.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0005a0002c0002t0014a0002c0003t0001 | a0001c0001t0005g0264a0001c0001t0005g0265a0001c0001t0005g0277others(2): Show | 5 | 302 | 0.0166 | -12 | c.241 others(33): Show |
PCDHGB6 | ENSG00000253305.3 | transcript | ENST00000520790.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB6_chr5_141403021_141517975 | 141482956 | CCAGCTAC others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(149): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0006a0001c0018others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0272a0001c0001t0001g0279a0001c0001t0001g0280others(149): Show | 152 | 302 | 0.5033 | -12 | c.241 others(33): Show |
PCDHGB6 | ENSG00000253305.3 | transcript | ENST00000520790.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB6_chr5_141403021_141517975 | 141498971 | GGGAAGGA others(5): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00438.hp2 others(57): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0039a0001c0001t0001g0080a0001c0001t0001g0111others(57): Show | 60 | 302 | 0.1987 | -12 | c.247 others(31): Show |
PCDHGB6 | ENSG00000253305.3 | transcript | ENST00000520790.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB7_chr5_141412677_141517975 | 141433358 | CCTATCTA others(5): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG01516.hp1 NA18970.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0261a0001c0001t0003g0039a0001c0001t0003g0040 | 3 | 306 | 0.0098 | -12 | c.241 others(33): Show |
PCDHGB7 | ENSG00000254122.3 | transcript | ENST00000398594.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB7_chr5_141412677_141517975 | 141438571 | TATACATA others(5): Show |
T | intron_variant | MODIFIER | NA18988.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0240 | 1 | 306 | 0.0033 | -12 | c.241 others(33): Show |
PCDHGB7 | ENSG00000254122.3 | transcript | ENST00000398594.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB7_chr5_141412677_141517975 | 141438583 | CATACATA others(5): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG01243.hp1 HG01346.hp2 others(5): Show |
a0001a0003 | a0001c0001a0003c0004a0003c0008 | a0001c0001t0001a0001c0001t0002a0003c0004t0002others(1): Show | a0001c0001t0001g0097a0001c0001t0002g0082a0001c0001t0002g0083others(5): Show | 8 | 306 | 0.0261 | -12 | c.241 others(33): Show |
PCDHGB7 | ENSG00000254122.3 | transcript | ENST00000398594.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB7_chr5_141412677_141517975 | 141438625 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG01928.hp1 NA19002.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0014 | a0001c0002t0001g0203a0001c0002t0014g0200 | 2 | 306 | 0.0065 | -12 | c.241 others(33): Show |
PCDHGB7 | ENSG00000254122.3 | transcript | ENST00000398594.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB7_chr5_141412677_141517975 | 141438627 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02723.hp2 NA18522.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0069a0001c0002t0001g0164a0001c0002t0001g0219 | 3 | 306 | 0.0098 | -12 | c.241 others(33): Show |
PCDHGB7 | ENSG00000254122.3 | transcript | ENST00000398594.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB7_chr5_141412677_141517975 | 141438629 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG01175.hp1 HG01433.hp2 others(30): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0095a0001c0001t0001g0096a0001c0001t0001g0105others(30): Show | 33 | 306 | 0.1078 | -12 | c.241 others(33): Show |
PCDHGB7 | ENSG00000254122.3 | transcript | ENST00000398594.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB7_chr5_141412677_141517975 | 141438631 | TATATACA others(5): Show |
T | intron_variant | MODIFIER | HG01255.hp2 HG01346.hp1 |
a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0229a0002c0003t0004g0232 | 2 | 306 | 0.0065 | -12 | c.241 others(33): Show |
PCDHGB7 | ENSG00000254122.3 | transcript | ENST00000398594.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB7_chr5_141412677_141517975 | 141455860 | ATTATTTA others(5): Show |
A | intron_variant | MODIFIER | HG01934.hp1 HG02145.hp1 HG02451.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011a0001c0001t0017 | a0001c0001t0002g0075a0001c0001t0011g0100a0001c0001t0011g0101others(2): Show | 5 | 306 | 0.0163 | -12 | c.241 others(33): Show |
PCDHGB7 | ENSG00000254122.3 | transcript | ENST00000398594.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB7_chr5_141412677_141517975 | 141482956 | CCAGCTAC others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(149): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0002a0001c0006others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0002a0001c0001t0001g0092a0001c0001t0001g0094others(149): Show | 152 | 306 | 0.4967 | -12 | c.241 others(33): Show |
PCDHGB7 | ENSG00000254122.3 | transcript | ENST00000398594.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB7_chr5_141412677_141517975 | 141498971 | GGGAAGGA others(5): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00438.hp1 others(57): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0095a0001c0001t0001g0096a0001c0001t0001g0218others(57): Show | 60 | 306 | 0.1961 | -12 | c.247 others(31): Show |
PCDHGB7 | ENSG00000254122.3 | transcript | ENST00000398594.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGC3_chr5_141470966_141517975 | 141482738 | ATGCAGAG others(5): Show |
A | intron_variant | MODIFIER | NA19072.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0123 | 1 | 350 | 0.0029 | -12 | c.243 others(31): Show |
PCDHGC3 | ENSG00000240184.7 | transcript | ENST00000308177.5 | protein_coding | 1/3 | chr5 | TogoVar | ||||||
PCDHGC3_chr5_141470966_141517975 | 141482956 | CCAGCTAC others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(161): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0017a0001c0001t0001g0023a0001c0001t0001g0024others(144): Show | 164 | 350 | 0.4686 | -12 | c.243 others(31): Show |
PCDHGC3 | ENSG00000240184.7 | transcript | ENST00000308177.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGC3_chr5_141470966_141517975 | 141498971 | GGGAAGGA others(5): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(65): Show |
a0001a0003a0009 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(10): Show | a0001c0001t0001g0110a0001c0001t0001g0205a0001c0001t0001g0210others(55): Show | 68 | 350 | 0.1943 | -12 | c.248 others(31): Show |
PCDHGC3 | ENSG00000240184.7 | transcript | ENST00000308177.5 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGC4_chr5_141480030_141517975 | 141482738 | ATGCAGAG others(5): Show |
A | upstream_gene_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 354 | 0.0028 | -12 | c.-24 others(23): Show |
PCDHGC4 | ENSG00000242419.6 | transcript | ENST00000306593.2 | protein_coding | 2291 | chr5 | TogoVar | ||||||
PCDHGC4_chr5_141480030_141517975 | 141482956 | CCAGCTAC others(5): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(162): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0011others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0025others(141): Show | 165 | 354 | 0.4661 | -12 | c.-22 others(23): Show |
PCDHGC4 | ENSG00000242419.6 | transcript | ENST00000306593.2 | protein_coding | 2073 | chr5 | TogoVar | ||||||
PCDHGC4_chr5_141480030_141517975 | 141498971 | GGGAAGGA others(5): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(68): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0017a0001c0001t0001g0028a0001c0001t0001g0038others(53): Show | 71 | 354 | 0.2006 | -12 | c.250 others(31): Show |
PCDHGC4 | ENSG00000242419.6 | transcript | ENST00000306593.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGC5_chr5_141484081_141517975 | 141498971 | GGGAAGGA others(5): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(69): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(7): Show | a0001c0001t0001g0024a0001c0001t0001g0149a0001c0001t0001g0203others(52): Show | 72 | 364 | 0.1978 | -12 | c.251 others(31): Show |
PCDHGC5 | ENSG00000240764.4 | transcript | ENST00000252087.3 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCED1A_chr20_2830314_2845655 | 2845007 | GGTGTGTG others(5): Show |
G | upstream_gene_variant | MODIFIER | HG03239.hp1 HG04228.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003a0001c0002t0001g0007 | 2 | 436 | 0.0046 | -12 | c.-48 others(23): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 4353 | chr20 | TogoVar | ||||||
PCED1B_chr12_47074621_47241660 | 47135290 | TTTTTTAT others(5): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG01074.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0157a0001c0001t0002g0167 | 2 | 322 | 0.0062 | -12 | c.-52 others(33): Show |
PCED1B | ENSG00000179715.13 | transcript | ENST00000546455.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PCED1B_chr12_47074621_47241660 | 47153355 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00673.hp2 HG01256.hp2 HG02080.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0006a0001c0001t0001g0149a0001c0001t0001g0285others(16): Show | 19 | 322 | 0.0590 | -12 | c.-52 others(33): Show |
PCED1B | ENSG00000179715.13 | transcript | ENST00000546455.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PCED1B_chr12_47074621_47241660 | 47160271 | CTTTCTTT others(5): Show |
C | intron_variant | MODIFIER | NA18985.hp1 NA18986.hp2 NA19005.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032a0001c0001t0001g0047a0001c0001t0001g0140others(2): Show | 5 | 322 | 0.0155 | -12 | c.-52 others(33): Show |
PCED1B | ENSG00000179715.13 | transcript | ENST00000546455.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PCED1B_chr12_47074621_47241660 | 47217466 | GAAAGAGA others(5): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG01358.hp1 HG01515.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0105a0001c0001t0001g0225a0001c0001t0001g0228others(5): Show | 8 | 322 | 0.0248 | -12 | c.-58 others(27): Show |
PCED1B | ENSG00000179715.13 | transcript | ENST00000546455.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PCED1B_chr12_47074621_47241660 | 47217470 | GAGAAAGA others(5): Show |
G | intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0111 | 1 | 322 | 0.0031 | -12 | c.-58 others(27): Show |
PCED1B | ENSG00000179715.13 | transcript | ENST00000546455.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PCED1B_chr12_47074621_47241660 | 47232905 | TTTTATTT others(5): Show |
T | intron_variant | MODIFIER | HG01516.hp2 HG02451.hp2 HG03704.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0246a0001c0001t0002g0268a0001c0002t0001g0071 | 3 | 322 | 0.0093 | -12 | c.-57 others(29): Show |
PCED1B | ENSG00000179715.13 | transcript | ENST00000546455.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PCF11_chr11_83152131_83190794 | 83154372 | AATTTATT others(5): Show |
A | upstream_gene_variant | MODIFIER | HG02074.hp1 | a0013 | a0013c0020 | a0013c0020t0001 | a0013c0020t0001g0002 | 1 | 396 | 0.0025 | -12 | c.-30 others(23): Show |
PCF11 | ENSG00000165494.12 | transcript | ENST00000690938.1 | protein_coding | 2758 | chr11 | TogoVar | ||||||
PCF11_chr11_83152131_83190794 | 83160321 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0053 | 1 | 396 | 0.0025 | -12 | c.193 others(27): Show |
PCF11 | ENSG00000165494.12 | transcript | ENST00000690938.1 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |