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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PCDH11X_chrX_91774375_92628230 | 92148173 | C | CTTCCTTC others(25): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0081 | 1 | 154 | 0.0065 | 32 | c.303 others(53): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PCDH11X_chrX_91774375_92628230 | 92148173 | C | CTTCCTTC others(25): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0128 | 1 | 154 | 0.0065 | 32 | c.303 others(53): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PCDH11X_chrX_91774375_92628230 | 92148173 | C | CTTCTTTC others(25): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0003 | a0001c0003t0012 | a0001c0003t0012g0144 | 1 | 154 | 0.0065 | 32 | c.303 others(53): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PCDH11X_chrX_91774375_92628230 | 92208508 | A | AATATATA others(25): Show |
intron_variant | MODIFIER | HG00280.hp1 NA18984.hp1 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0026 | a0001c0001t0001g0072a0001c0001t0003g0123a0001c0001t0026g0138 | 3 | 154 | 0.0195 | 32 | c.311 others(51): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PCDH11X_chrX_91774375_92628230 | 92326639 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0049 | 1 | 154 | 0.0065 | 32 | c.314 others(53): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PCDH11Y_chrY_4995296_5747224 | 5373126 | C | CCCTCCCT others(25): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 115 | 0.0087 | 32 | c.285 others(55): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
PCDH11Y_chrY_4995296_5747224 | 5373126 | C | CCCTCCCT others(25): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01952.hp1 HG03654.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048a0001c0001t0001g0058a0001c0001t0001g0099 | 3 | 115 | 0.0261 | 32 | c.285 others(55): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
PCDH11Y_chrY_4995296_5747224 | 5373126 | C | CCCTCCCT others(25): Show |
intron_variant | MODIFIER | HG00673.hp1 NA18960.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037a0001c0001t0001g0066 | 2 | 115 | 0.0174 | 32 | c.285 others(55): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
PCDH11Y_chrY_4995296_5747224 | 5373126 | C | CCCTCCTT others(25): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 115 | 0.0087 | 32 | c.285 others(55): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
PCDH15_chr10_53797771_54806231 | 53855904 | G | GTATATAT others(25): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02027.hp2 HG02145.hp2 |
a0001a0004a0022 | a0001c0001a0004c0004a0022c0028 | a0001c0001t0002a0004c0004t0002a0022c0028t0004 | a0001c0001t0002g0070a0004c0004t0002g0096a0022c0028t0004g0013 | 3 | 102 | 0.0294 | 32 | c.380 others(51): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 28/37 | chr10 | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 53888300 | A | ATACACAT others(25): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 102 | 0.0098 | 32 | c.350 others(53): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 26/37 | chr10 | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 54697625 | A | AAAGGAAG others(25): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0009 | a0009c0008 | a0009c0008t0001 | a0009c0008t0001g0048 | 1 | 102 | 0.0098 | 32 | c.-28 others(51): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 1/37 | chr10 | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 54731563 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG02145.hp2 NA18906.hp2 |
a0003a0022 | a0003c0003a0022c0028 | a0003c0003t0001a0022c0028t0004 | a0003c0003t0001g0009a0022c0028t0004g0013 | 2 | 102 | 0.0196 | 32 | c.-28 others(51): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 1/37 | chr10 | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 54804927 | T | TTATATAT others(25): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 HG02109.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022a0001c0001t0001g0090 | 2 | 102 | 0.0196 | 32 | c.-40 others(43): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 3697 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 53855904 | G | GTATATAT others(25): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02027.hp2 HG02145.hp1 |
a0001a0004a0018 | a0001c0001a0004c0044a0018c0034 | a0001c0001t0001a0004c0044t0001a0018c0034t0003 | a0001c0001t0001g0064a0004c0044t0001g0088a0018c0034t0003g0013 | 3 | 94 | 0.0319 | 32 | c.380 others(51): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 28/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 53888300 | A | ATACACAT others(25): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 94 | 0.0106 | 32 | c.350 others(53): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 26/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54697625 | A | AAAGGAAG others(25): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0007 | a0007c0019 | a0007c0019t0001 | a0007c0019t0001g0045 | 1 | 94 | 0.0106 | 32 | c.-28 others(51): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 1/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54731563 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG02145.hp1 NA18906.hp2 |
a0003a0018 | a0003c0003a0018c0034 | a0003c0003t0001a0018c0034t0003 | a0003c0003t0001g0009a0018c0034t0003g0013 | 2 | 94 | 0.0213 | 32 | c.-28 others(51): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 1/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54804927 | T | TTATATAT others(25): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 94 | 0.0106 | 32 | c.-40 others(43): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 3697 | chr10 | TogoVar | ||||||
PCDH19_chrX_100286644_100415273 | 100322865 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0106 | 1 | 281 | 0.0036 | 32 | c.284 others(53): Show |
PCDH19 | ENSG00000165194.15 | transcript | ENST00000373034.8 | protein_coding | 5/5 | chrX | TogoVar | ||||||
PCDH19_chrX_100286644_100415273 | 100322865 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0101 | 1 | 281 | 0.0036 | 32 | c.284 others(53): Show |
PCDH19 | ENSG00000165194.15 | transcript | ENST00000373034.8 | protein_coding | 5/5 | chrX | TogoVar | ||||||
PCDH19_chrX_100286644_100415273 | 100322865 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG03486.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0260a0001c0001t0008g0266 | 2 | 281 | 0.0071 | 32 | c.284 others(53): Show |
PCDH19 | ENSG00000165194.15 | transcript | ENST00000373034.8 | protein_coding | 5/5 | chrX | TogoVar | ||||||
PCDH19_chrX_100286644_100415273 | 100333174 | G | GAAGGAAG others(25): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0141 | 1 | 281 | 0.0036 | 32 | c.284 others(51): Show |
PCDH19 | ENSG00000165194.15 | transcript | ENST00000373034.8 | protein_coding | 5/5 | chrX | TogoVar | ||||||
PCDH7_chr4_30715369_31151800 | 30960147 | A | AAGGGAGG others(25): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0170 | 1 | 214 | 0.0047 | 32 | c.339 others(53): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PCDH7_chr4_30715369_31151800 | 30960151 | A | AAGGAAGG others(25): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03453.hp1 NA19030.hp1 |
a0001 | a0001c0001a0001c0006a0001c0008 | a0001c0001t0001a0001c0006t0007a0001c0008t0010 | a0001c0001t0001g0169a0001c0006t0007g0210a0001c0008t0010g0017 | 3 | 214 | 0.0140 | 32 | c.339 others(53): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PCDH7_chr4_30715369_31151800 | 30960151 | A | AAGGAAGG others(25): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00642.hp2 HG00735.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0018 | a0001c0001t0001g0168a0001c0001t0001g0173a0001c0001t0001g0175others(8): Show | 11 | 214 | 0.0514 | 32 | c.339 others(53): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PCDH7_chr4_30715369_31151800 | 30960151 | A | AAGGAAGG others(25): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01952.hp2 HG02015.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0115a0001c0001t0003g0058a0001c0001t0003g0100others(9): Show | 12 | 214 | 0.0561 | 32 | c.339 others(53): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PCDH7_chr4_30715369_31151800 | 30960151 | A | AAGGAAGG others(25): Show |
intron_variant | MODIFIER | HG06807.hp1 NA18975.hp2 |
a0001a0005 | a0001c0001a0005c0014 | a0001c0001t0002a0005c0014t0010 | a0001c0001t0002g0060a0005c0014t0010g0108 | 2 | 214 | 0.0094 | 32 | c.339 others(53): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PCDH7_chr4_30715369_31151800 | 31079333 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0004 | a0004c0017 | a0004c0017t0003 | a0004c0017t0003g0190 | 1 | 214 | 0.0047 | 32 | c.339 others(53): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PCDH7_chr4_30715369_31151800 | 31150365 | A | ATTTTTCT others(25): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 HG03704.hp1 NA19030.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0026a0001c0003t0012 | a0001c0001t0026g0029a0001c0003t0012g0003a0001c0003t0012g0006 | 3 | 214 | 0.0140 | 32 | c.*75 others(43): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 3566 | chr4 | TogoVar | ||||||
PCDH9_chr13_66297834_67235336 | 66779873 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0003 | a0003c0010 | a0003c0010t0007 | a0003c0010t0007g0001 | 1 | 80 | 0.0125 | 32 | c.313 others(55): Show |
PCDH9 | ENSG00000184226.15 | transcript | ENST00000377865.7 | protein_coding | 3/4 | chr13 | TogoVar | ||||||
PCDH9_chr13_66297834_67235336 | 66932681 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0058 | 1 | 80 | 0.0125 | 32 | c.303 others(53): Show |
PCDH9 | ENSG00000184226.15 | transcript | ENST00000377865.7 | protein_coding | 2/4 | chr13 | TogoVar | ||||||
PCDH9_chr13_66297834_67235336 | 67216683 | C | CATATATA others(25): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0045 | 1 | 80 | 0.0125 | 32 | c.303 others(51): Show |
PCDH9 | ENSG00000184226.15 | transcript | ENST00000377865.7 | protein_coding | 2/4 | chr13 | TogoVar | ||||||
PCDHA10_chr5_140850897_141017347 | 140925082 | A | AAAGGAAG others(25): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0010 | a0010c0029 | a0010c0029t0001 | a0010c0029t0001g0012 | 1 | 260 | 0.0039 | 32 | c.238 others(53): Show |
PCDHA10 | ENSG00000250120.8 | transcript | ENST00000307360.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHA10_chr5_140850897_141017347 | 140946611 | A | AATATATA others(25): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0041 | 1 | 260 | 0.0039 | 32 | c.238 others(53): Show |
PCDHA10 | ENSG00000250120.8 | transcript | ENST00000307360.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHA10_chr5_140850897_141017347 | 140946631 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0081 | 1 | 260 | 0.0039 | 32 | c.238 others(53): Show |
PCDHA10 | ENSG00000250120.8 | transcript | ENST00000307360.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHA10_chr5_140850897_141017347 | 140946631 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG03579.hp2 NA19030.hp2 |
a0003a0019 | a0003c0018a0019c0016 | a0003c0018t0002a0019c0016t0001 | a0003c0018t0002g0029a0019c0016t0001g0043 | 2 | 260 | 0.0077 | 32 | c.238 others(53): Show |
PCDHA10 | ENSG00000250120.8 | transcript | ENST00000307360.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHA11_chr5_140863957_141017347 | 140925082 | A | AAAGGAAG others(25): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0006 | a0006c0016 | a0006c0016t0001 | a0006c0016t0001g0001 | 1 | 260 | 0.0039 | 32 | c.239 others(53): Show |
PCDHA11 | ENSG00000249158.7 | transcript | ENST00000398640.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHA11_chr5_140863957_141017347 | 140946611 | A | AATATATA others(25): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0141 | 1 | 260 | 0.0039 | 32 | c.239 others(53): Show |
PCDHA11 | ENSG00000249158.7 | transcript | ENST00000398640.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHA11_chr5_140863957_141017347 | 140946631 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0161 | 1 | 260 | 0.0039 | 32 | c.239 others(53): Show |
PCDHA11 | ENSG00000249158.7 | transcript | ENST00000398640.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHA11_chr5_140863957_141017347 | 140946631 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG03579.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0249a0001c0001t0002g0112 | 2 | 260 | 0.0077 | 32 | c.239 others(53): Show |
PCDHA11 | ENSG00000249158.7 | transcript | ENST00000398640.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHA12_chr5_140870308_141017347 | 140925082 | A | AAAGGAAG others(25): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0013 | a0013c0026 | a0013c0026t0017 | a0013c0026t0017g0113 | 1 | 260 | 0.0039 | 32 | c.236 others(53): Show |
PCDHA12 | ENSG00000251664.5 | transcript | ENST00000398631.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHA12_chr5_140870308_141017347 | 140946611 | A | AATATATA others(25): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 260 | 0.0039 | 32 | c.236 others(53): Show |
PCDHA12 | ENSG00000251664.5 | transcript | ENST00000398631.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHA12_chr5_140870308_141017347 | 140946631 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0130 | 1 | 260 | 0.0039 | 32 | c.236 others(53): Show |
PCDHA12 | ENSG00000251664.5 | transcript | ENST00000398631.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHA12_chr5_140870308_141017347 | 140946631 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG03579.hp2 NA19030.hp1 |
a0001 | a0001c0001a0001c0021 | a0001c0001t0001a0001c0021t0002 | a0001c0001t0001g0227a0001c0021t0002g0110 | 2 | 260 | 0.0077 | 32 | c.236 others(53): Show |
PCDHA12 | ENSG00000251664.5 | transcript | ENST00000398631.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHA13_chr5_140877124_141017347 | 140925082 | A | AAAGGAAG others(25): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0009 | a0009c0023 | a0009c0023t0001 | a0009c0023t0001g0004 | 1 | 260 | 0.0039 | 32 | c.239 others(53): Show |
PCDHA13 | ENSG00000239389.8 | transcript | ENST00000289272.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHA13_chr5_140877124_141017347 | 140946611 | A | AATATATA others(25): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 260 | 0.0039 | 32 | c.239 others(53): Show |
PCDHA13 | ENSG00000239389.8 | transcript | ENST00000289272.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHA13_chr5_140877124_141017347 | 140946631 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0143 | 1 | 260 | 0.0039 | 32 | c.239 others(53): Show |
PCDHA13 | ENSG00000239389.8 | transcript | ENST00000289272.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHA13_chr5_140877124_141017347 | 140946631 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG03579.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0257a0001c0001t0002g0119 | 2 | 260 | 0.0077 | 32 | c.239 others(53): Show |
PCDHA13 | ENSG00000239389.8 | transcript | ENST00000289272.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHA1_chr5_140781140_141017347 | 140925082 | A | AAAGGAAG others(25): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0014 | a0014c0018 | a0014c0018t0001 | a0014c0018t0001g0100 | 1 | 200 | 0.0050 | 32 | c.239 others(53): Show |
PCDHA1 | ENSG00000204970.10 | transcript | ENST00000504120.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |