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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PAX3_chr2_222194887_222303998 | 222265646 | A | AGAAGGAA others(21): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02602.hp1 HG02602.hp2 others(16): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0035 others(16): Show |
19 | 328 | 0.0579 | 28 | c.586 others(47): Show |
PAX3 | ENSG00000135903.20 | transcript | ENST00000392070.7 | protein_coding | 4/8 | chr2 | TogoVar | |||||||
PAX3_chr2_222194887_222303998 | 222265688 | A | AAGAAAGG others(21): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0148 | 1 | 328 | 0.0031 | 28 | c.586 others(47): Show |
PAX3 | ENSG00000135903.20 | transcript | ENST00000392070.7 | protein_coding | 4/8 | chr2 | TogoVar | |||||||
PAX3_chr2_222194887_222303998 | 222265691 | G | GAAGGAAG others(21): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG01109.hp1 others(10): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0098 a0001c0001t0001g0119 a0001c0001t0001g0212 others(10): Show |
13 | 328 | 0.0396 | 28 | c.586 others(47): Show |
PAX3 | ENSG00000135903.20 | transcript | ENST00000392070.7 | protein_coding | 4/8 | chr2 | TogoVar | |||||||
PAX5_chr9_36828269_37039268 | 36848350 | C | CCACACAC others(21): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0002 | a0001c0002t0023 | a0001c0002t0023g0041 | 1 | 274 | 0.0037 | 28 | c.101 others(47): Show |
PAX5 | ENSG00000196092.14 | transcript | ENST00000358127.9 | protein_coding | 8/9 | chr9 | TogoVar | |||||||
PAX6_chr11_31784026_31816322 | 31814990 | G | GTCTCTCT others(21): Show |
upstream_gene_variant | MODIFIER | HG01192.hp2 HG02976.hp2 HG03486.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0028 a0001c0001t0001g0073 a0001c0001t0001g0095 others(2): Show |
5 | 376 | 0.0133 | 28 | c.-42 others(39): Show |
PAX6 | ENSG00000007372.25 | transcript | ENST00000640368.2 | protein_coding | 3669 | chr11 | TogoVar | |||||||
PAX7_chr1_18625846_18753866 | 18635511 | T | TAGGAAGG others(21): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00642.hp1 HG00642.hp2 others(41): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0018 a0001c0001t0001g0096 a0001c0001t0001g0112 others(41): Show |
44 | 302 | 0.1457 | 28 | c.451 others(43): Show |
PAX7 | ENSG00000009709.12 | transcript | ENST00000420770.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PAX9_chr14_36656860_36684362 | 36672852 | C | CTTTTTTT others(21): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0298 | 1 | 446 | 0.0022 | 28 | c.772 others(45): Show |
PAX9 | ENSG00000198807.13 | transcript | ENST00000361487.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PBK_chr8_27804624_27842817 | 27816343 | C | CTATATAT others(21): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02647.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0059 a0002c0002t0002g0092 |
2 | 392 | 0.0051 | 28 | c.595 others(45): Show |
PBK | ENSG00000168078.10 | transcript | ENST00000301905.9 | protein_coding | 6/7 | chr8 | TogoVar | |||||||
PBRM1_chr3_52540367_52690913 | 52542619 | C | CAAAAAAA others(21): Show |
downstream_gene_variant | MODIFIER | HG01123.hp1 HG02074.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 a0001c0001t0002g0017 |
2 | 300 | 0.0067 | 28 | c.*54 others(39): Show |
PBRM1 | ENSG00000163939.19 | transcript | ENST00000707071.1 | protein_coding | 2747 | chr3 | TogoVar | |||||||
PBRM1_chr3_52540367_52690913 | 52636757 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG01928.hp1 NA18982.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0180 a0001c0002t0001g0245 |
2 | 300 | 0.0067 | 28 | c.108 others(47): Show |
PBRM1 | ENSG00000163939.19 | transcript | ENST00000707071.1 | protein_coding | 11/31 | chr3 | TogoVar | |||||||
PBX1_chr1_164554184_164856831 | 164739760 | T | TGTGTGTG others(21): Show |
intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 184 | 0.0054 | 28 | c.266 others(47): Show |
PBX1 | ENSG00000185630.20 | transcript | ENST00000420696.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PBX1_chr1_164554184_164856831 | 164845327 | C | CGGACATT others(21): Show |
intron_variant | MODIFIER | HG00140.hp1 HG02004.hp1 HG02015.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0003a0001c0001t0031a0001c0001t0036others(2): Show | a0001c0001t0003g0119 a0001c0001t0003g0164 a0001c0001t0031g0084 others(9): Show |
12 | 184 | 0.0652 | 28 | c.120 others(47): Show |
PBX1 | ENSG00000185630.20 | transcript | ENST00000420696.7 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PBX3_chr9_125742373_125972377 | 125793362 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0011 | a0001c0001t0005g0286 a0001c0001t0011g0285 |
2 | 294 | 0.0068 | 28 | c.274 others(47): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PBX3_chr9_125742373_125972377 | 125793366 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 294 | 0.0034 | 28 | c.274 others(47): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PBX3_chr9_125742373_125972377 | 125804913 | C | CTGAGATC others(21): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(113): Show |
a0001a0004 | a0001c0001a0001c0007a0004c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 others(113): Show |
116 | 294 | 0.3946 | 28 | c.274 others(47): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45667075 | G | GTTCTTTC others(21): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG01981.hp2 others(17): Show |
a0001a0003a0007 | a0001c0001a0003c0006a0007c0009 | a0001c0001t0002a0001c0001t0005a0001c0001t0018others(3): Show | a0001c0001t0002g0223 a0001c0001t0002g0228 a0001c0001t0002g0229 others(17): Show |
20 | 292 | 0.0685 | 28 | c.-27 others(47): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45909826 | C | CCCACCCA others(21): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00642.hp1 HG00738.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0012a0001c0001t0013others(6): Show | a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0118 others(19): Show |
22 | 292 | 0.0753 | 28 | c.471 others(43): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45909828 | C | CACCCACT others(21): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0263 a0001c0001t0004g0002 |
2 | 292 | 0.0069 | 28 | c.471 others(43): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45909908 | C | CCCACCCA others(21): Show |
intron_variant | MODIFIER | HG01167.hp1 HG03239.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 a0001c0001t0001g0183 |
2 | 292 | 0.0069 | 28 | c.471 others(43): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45909952 | A | ATACGGAC others(21): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0285 | 1 | 292 | 0.0034 | 28 | c.471 others(43): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45910052 | A | ACCCACTT others(21): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02145.hp2 HG02257.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0023 | a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0056 others(10): Show |
13 | 292 | 0.0445 | 28 | c.471 others(43): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45910079 | A | ACCCACTT others(21): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00544.hp1 others(112): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0011a0004c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 others(112): Show |
115 | 292 | 0.3938 | 28 | c.471 others(43): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45921166 | T | TGGTATTT others(21): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00642.hp1 HG00738.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0001t0016a0001c0001t0017others(3): Show | a0001c0001t0012g0045 a0001c0001t0012g0046 a0001c0001t0016g0027 others(16): Show |
19 | 292 | 0.0651 | 28 | c.717 others(45): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCCA_chr13_100084093_100535435 | 100341957 | G | GTATATAT others(21): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0062 | 1 | 174 | 0.0058 | 28 | c.164 others(47): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 18/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PCCB_chr3_136245340_136335169 | 136264440 | G | GTGTATAT others(21): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 300 | 0.0033 | 28 | c.543 others(45): Show |
PCCB | ENSG00000114054.14 | transcript | ENST00000251654.9 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PCCB_chr3_136245340_136335169 | 136268098 | A | ATGTATAT others(21): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 300 | 0.0033 | 28 | c.543 others(45): Show |
PCCB | ENSG00000114054.14 | transcript | ENST00000251654.9 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 91945048 | C | CATATATA others(21): Show |
intron_variant | MODIFIER | HG02015.hp1 HG02027.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 a0001c0001t0001g0121 |
2 | 154 | 0.0130 | 28 | c.303 others(49): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 92147810 | C | CCTTTCTT others(21): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01258.hp1 HG02055.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0026 a0001c0001t0001g0099 a0001c0001t0002g0083 others(3): Show |
6 | 154 | 0.0390 | 28 | c.303 others(49): 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(21): Show |
intron_variant | MODIFIER | NA18612.hp1 NA19000.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0127 a0001c0001t0002g0067 |
2 | 154 | 0.0130 | 28 | c.303 others(49): 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(21): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01943.hp1 NA18983.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0015 | a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0093 others(2): Show |
5 | 154 | 0.0325 | 28 | c.303 others(49): 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(21): Show |
intron_variant | MODIFIER | HG00609.hp1 NA18995.hp1 NA19058.hp1 |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0002c0006t0009 | a0001c0001t0001g0042 a0001c0001t0001g0125 a0002c0006t0009g0032 |
3 | 154 | 0.0195 | 28 | c.303 others(49): 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(21): Show |
intron_variant | MODIFIER | NA18522.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018 a0001c0001t0002g0085 |
2 | 154 | 0.0130 | 28 | c.303 others(49): 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(21): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01243.hp1 HG02145.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0026 a0001c0001t0001g0099 a0001c0001t0001g0111 others(6): Show |
9 | 154 | 0.0584 | 28 | c.311 others(47): 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(21): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0091 | 1 | 154 | 0.0065 | 28 | c.314 others(49): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 92326639 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG01258.hp1 HG03195.hp2 HG03225.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002a0001c0002t0006 | a0001c0001t0002g0083 a0001c0002t0002g0008 a0001c0002t0006g0007 |
3 | 154 | 0.0195 | 28 | c.314 others(49): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 92326639 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0009 | a0001c0009t0031 | a0001c0009t0031g0044 | 1 | 154 | 0.0065 | 28 | c.314 others(49): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 92326639 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0022 | 1 | 154 | 0.0065 | 28 | c.314 others(49): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 92326639 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02647.hp1 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0001 a0001c0001t0002g0048 a0001c0001t0005g0075 |
3 | 154 | 0.0195 | 28 | c.314 others(49): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 92375166 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0045 | 1 | 154 | 0.0065 | 28 | c.314 others(49): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 92375166 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0052 | 1 | 154 | 0.0065 | 28 | c.314 others(49): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PCDH11Y_chrY_4995296_5747224 | 5373122 | C | CCTTTCTT others(21): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 115 | 0.0087 | 28 | c.285 others(51): 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(21): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 115 | 0.0087 | 28 | c.285 others(51): 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(21): Show |
intron_variant | MODIFIER | NA18944.hp1 NA19068.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 a0001c0001t0001g0074 |
2 | 115 | 0.0174 | 28 | c.285 others(51): 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(21): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 115 | 0.0087 | 28 | c.285 others(51): 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(21): Show |
intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 115 | 0.0087 | 28 | c.285 others(51): 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(21): Show |
intron_variant | MODIFIER | NA18612.hp1 NA19066.hp1 NA19070.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0009 a0001c0001t0001g0021 a0001c0001t0003g0088 |
3 | 115 | 0.0261 | 28 | c.285 others(51): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
PCDH11Y_chrY_4995296_5747224 | 5373126 | C | CCCTTCTT others(21): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0028 | 1 | 115 | 0.0087 | 28 | c.285 others(51): 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(21): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0037 | a0037c0016 | a0037c0016t0001 | a0037c0016t0001g0028 | 1 | 102 | 0.0098 | 28 | c.380 others(47): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 28/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53797771_54806231 | 53964380 | A | ATTTATAA others(21): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG01081.hp2 others(47): Show |
a0001a0002a0003others(17): Show | a0001c0001a0002c0002a0002c0039others(18): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(38): Show | a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0043 others(47): Show |
50 | 102 | 0.4902 | 28 | c.286 others(47): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 21/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53797771_54806231 | 53964382 | T | TTATAAAT others(21): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0063 | 1 | 102 | 0.0098 | 28 | c.286 others(47): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 21/37 | chr10 | TogoVar |