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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PARVB_chr22_44019302_44177939 | 44066780 | T | TCTCCTCC others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01109.hp2 HG01943.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0008others(8): Show | a0001c0001t0004g0154 a0001c0001t0005g0112 a0001c0001t0008g0149 others(10): Show |
13 | 73 | 0.1781 | 9 | c.113 others(28): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PATJ_chr1_61737480_62168915 | 62012169 | A | AGCTCACT others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG00735.hp1 others(75): Show |
a0001a0006a0008others(32): Show | a0001c0001a0001c0008a0001c0021others(65): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(69): Show | a0001c0001t0002g0020 a0001c0001t0003g0028 a0001c0001t0003g0151 others(75): Show |
78 | 156 | 0.5000 | 9 | c.386 others(28): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 28/43 | chr1 | TogoVar | |||||||
PATJ_chr1_61737480_62168915 | 62036871 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01070.hp2 HG01071.hp1 others(17): Show |
a0001a0003a0005others(11): Show | a0001c0059a0003c0055a0003c0100others(14): Show | a0001c0059t0005a0003c0055t0001a0003c0100t0001others(14): Show | a0001c0059t0005g0098 a0003c0055t0001g0044 a0003c0100t0001g0009 others(17): Show |
20 | 66 | 0.3030 | 9 | c.396 others(28): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 29/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PATJ_chr1_61737480_62168915 | 62148120 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG00735.hp1 others(14): Show |
a0006a0008a0009others(8): Show | a0006c0016a0006c0069a0008c0113others(12): Show | a0006c0016t0001a0006c0069t0001a0008c0113t0001others(12): Show | a0006c0016t0001g0006 a0006c0016t0001g0153 a0006c0069t0001g0034 others(14): Show |
17 | 66 | 0.2576 | 9 | c.527 others(26): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 41/43 | chr1 | TogoVar | |||||||
PAWR_chr12_79579879_79695964 | 79638897 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG01081.hp1 HG02523.hp1 HG02523.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0013 | a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0052 others(3): Show |
6 | 214 | 0.0280 | 9 | c.517 others(28): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 2/6 | chr12 | TogoVar | |||||||
PAX1_chr20_21700664_21723481 | 21721618 | T | TACATATA others(2): Show |
downstream_gene_variant | MODIFIER | HG03098.hp1 HG03453.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 a0001c0001t0003g0009 |
3 | 398 | 0.0075 | 9 | c.*70 others(20): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3138 | chr20 | TogoVar | |||||||
PAX2_chr10_100740582_100834944 | 100824396 | A | ACACACAC others(2): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01192.hp2 HG03492.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0021 | a0001c0001t0002g0049 a0001c0001t0002g0111 a0001c0001t0002g0161 others(1): Show |
4 | 225 | 0.0178 | 9 | c.920 others(24): Show |
PAX2 | ENSG00000075891.24 | transcript | ENST00000355243.8 | protein_coding | 7/9 | chr10 | TogoVar | |||||||
PAX5_chr9_36828269_37039268 | 36860375 | A | AGATGACC others(2): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02451.hp1 HG03209.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0006a0001c0002t0061 | a0001c0001t0001g0108 a0001c0002t0006g0112 a0001c0002t0006g0119 others(2): Show |
5 | 272 | 0.0184 | 9 | c.101 others(30): Show |
PAX5 | ENSG00000196092.14 | transcript | ENST00000358127.9 | protein_coding | 8/9 | chr9 | TogoVar | |||||||
PAX5_chr9_36828269_37039268 | 37003169 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02698.hp1 HG03654.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0001t0017a0001c0001t0018others(8): Show | a0001c0001t0008g0268 a0001c0001t0017g0010 a0001c0001t0018g0015 others(8): Show |
11 | 271 | 0.0406 | 9 | c.476 others(24): Show |
PAX5 | ENSG00000196092.14 | transcript | ENST00000358127.9 | protein_coding | 4/9 | chr9 | TogoVar | |||||||
PAX5_chr9_36828269_37039268 | 37018570 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(61): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0124 others(61): Show |
64 | 118 | 0.5424 | 9 | c.212 others(26): Show |
PAX5 | ENSG00000196092.14 | transcript | ENST00000358127.9 | protein_coding | 2/9 | chr9 | TogoVar | |||||||
PAX5_chr9_36828269_37039268 | 37027605 | T | TGCCGCCG others(2): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02615.hp2 NA18522.hp2 others(1): Show |
a0001a0003 | a0001c0002a0003c0005 | a0001c0002t0005a0001c0002t0046a0003c0005t0020 | a0001c0002t0005g0195 a0001c0002t0046g0024 a0003c0005t0020g0025 others(1): Show |
4 | 272 | 0.0147 | 9 | c.46+ others(24): Show |
PAX5 | ENSG00000196092.14 | transcript | ENST00000358127.9 | protein_coding | 1/9 | chr9 | TogoVar | |||||||
PAX6_chr11_31784026_31816322 | 31815029 | T | TCTCTCTC others(2): Show |
upstream_gene_variant | MODIFIER | HG01993.hp2 HG02056.hp2 HG03516.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0008 others(2): Show |
5 | 357 | 0.0140 | 9 | c.-42 others(20): Show |
PAX6 | ENSG00000007372.25 | transcript | ENST00000640368.2 | protein_coding | 3708 | chr11 | TogoVar | |||||||
PAX9_chr14_36656860_36684362 | 36672852 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00423.hp1 others(85): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(14): Show | a0001c0003t0001g0017 a0001c0003t0001g0026 a0001c0003t0001g0050 others(58): Show |
88 | 117 | 0.7521 | 9 | c.772 others(26): Show |
PAX9 | ENSG00000198807.13 | transcript | ENST00000361487.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PAX9_chr14_36656860_36684362 | 36679962 | T | TAAAACAC others(2): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(258): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(36): Show | a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0066 others(185): Show |
261 | 444 | 0.5878 | 9 | c.*35 others(20): Show |
PAX9 | ENSG00000198807.13 | transcript | ENST00000361487.7 | protein_coding | 601 | chr14 | TogoVar | |||||||
PBRM1_chr3_52540367_52690913 | 52542619 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG00639.hp1 HG00673.hp2 others(27): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0119 a0001c0002t0001g0125 a0001c0002t0001g0126 others(27): Show |
30 | 33 | 0.9091 | 9 | c.*54 others(20): Show |
PBRM1 | ENSG00000163939.19 | transcript | ENST00000707071.1 | protein_coding | 2747 | chr3 | TogoVar | |||||||
PBRM1_chr3_52540367_52690913 | 52584450 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02486.hp2 HG02886.hp2 others(11): Show |
a0001 | a0001c0003a0001c0004a0001c0005 | a0001c0003t0001a0001c0004t0001a0001c0005t0001 | a0001c0003t0001g0224 a0001c0003t0001g0230 a0001c0003t0001g0256 others(11): Show |
14 | 134 | 0.1045 | 9 | c.343 others(28): Show |
PBRM1 | ENSG00000163939.19 | transcript | ENST00000707071.1 | protein_coding | 22/31 | chr3 | TogoVar | |||||||
PBRM1_chr3_52540367_52690913 | 52612258 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02717.hp2 HG02809.hp2 others(11): Show |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0004 | a0001c0004t0001g0235 a0001c0004t0001g0236 a0001c0004t0001g0239 others(11): Show |
14 | 149 | 0.0940 | 9 | c.197 others(28): Show |
PBRM1 | ENSG00000163939.19 | transcript | ENST00000707071.1 | protein_coding | 17/31 | chr3 | TogoVar | |||||||
PBX1_chr1_164554184_164856831 | 164588473 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01099.hp1 HG03669.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(1): Show | a0001c0001t0001g0029 a0001c0001t0001g0143 a0001c0001t0002g0132 others(2): Show |
5 | 58 | 0.0862 | 9 | c.265 others(28): Show |
PBX1 | ENSG00000185630.20 | transcript | ENST00000420696.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PBX1_chr1_164554184_164856831 | 164776942 | G | GAGAGAGA others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02738.hp1 HG04184.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0032a0002c0002t0001 | a0001c0001t0001g0029 a0001c0001t0032g0180 a0002c0002t0001g0093 |
3 | 91 | 0.0330 | 9 | c.266 others(28): Show |
PBX1 | ENSG00000185630.20 | transcript | ENST00000420696.7 | protein_coding | 2/8 | chr1 | TogoVar | |||||||
PBX3_chr9_125742373_125972377 | 125793364 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG03579.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023 a0001c0001t0002g0080 a0001c0001t0002g0081 others(1): Show |
4 | 272 | 0.0147 | 9 | c.274 others(28): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 2/8 | chr9 | TogoVar | |||||||
PBX3_chr9_125742373_125972377 | 125793366 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG01943.hp2 HG03834.hp2 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0063 |
3 | 123 | 0.0244 | 9 | c.274 others(28): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 2/8 | chr9 | TogoVar | |||||||
PBX3_chr9_125742373_125972377 | 125971711 | G | GTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00597.hp2 HG01109.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0024 others(24): Show |
27 | 96 | 0.2813 | 9 | c.*57 others(20): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 4335 | chr9 | TogoVar | |||||||
PBX4_chr19_19556713_19623687 | 19605416 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01256.hp1 HG01258.hp2 others(16): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0192 others(14): Show |
19 | 243 | 0.0782 | 9 | c.120 others(26): Show |
PBX4 | ENSG00000105717.14 | transcript | ENST00000251203.14 | protein_coding | 1/7 | chr19 | TogoVar | |||||||
PBX4_chr19_19556713_19623687 | 19605446 | T | TAATAATA others(2): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01070.hp1 HG01071.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0059 a0001c0001t0001g0069 others(5): Show |
9 | 301 | 0.0299 | 9 | c.120 others(26): Show |
PBX4 | ENSG00000105717.14 | transcript | ENST00000251203.14 | protein_coding | 1/7 | chr19 | TogoVar | |||||||
PCCA_chr13_100084093_100535435 | 100188325 | A | AAAACAAA others(2): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02965.hp1 HG02965.hp2 others(3): Show |
a0001a0008 | a0001c0001a0001c0002a0008c0008 | a0001c0001t0001a0001c0002t0001a0008c0008t0001 | a0001c0001t0001g0083 a0001c0001t0001g0088 a0001c0002t0001g0082 others(3): Show |
6 | 160 | 0.0375 | 9 | c.469 others(28): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PCCA_chr13_100084093_100535435 | 100354074 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01081.hp2 HG02055.hp1 others(4): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0072 others(4): Show |
7 | 57 | 0.1228 | 9 | c.164 others(30): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 18/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PCCA_chr13_100084093_100535435 | 100469211 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02145.hp2 HG02735.hp2 others(14): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0003a0005c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0003t0001others(2): Show | a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0040 others(14): Show |
17 | 74 | 0.2297 | 9 | c.189 others(30): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PCCA_chr13_100084093_100535435 | 100516760 | T | TGTGTGTG others(2): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02886.hp1 HG03654.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 a0001c0001t0001g0143 a0001c0001t0001g0160 |
3 | 136 | 0.0221 | 9 | c.204 others(28): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 22/23 | chr13 | TogoVar | |||||||
PCCB_chr3_136245340_136335169 | 136289789 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00738.hp1 HG00738.hp2 others(39): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0017 others(37): Show |
42 | 242 | 0.1736 | 9 | c.655 others(26): Show |
PCCB | ENSG00000114054.14 | transcript | ENST00000251654.9 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PCCB_chr3_136245340_136335169 | 136307977 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02135.hp1 HG02280.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(3): Show |
6 | 229 | 0.0262 | 9 | c.966 others(26): Show |
PCCB | ENSG00000114054.14 | transcript | ENST00000251654.9 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PCDH10_chr4_133144294_133199700 | 133199289 | A | AAATAATA others(2): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00738.hp1 HG01106.hp1 others(42): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(16): Show | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0014 others(33): Show |
45 | 131 | 0.3435 | 9 | c.*91 others(20): Show |
PCDH10 | ENSG00000138650.9 | transcript | ENST00000264360.7 | protein_coding | 4590 | chr4 | TogoVar | |||||||
PCDH11X_chrX_91774375_92628230 | 92331372 | T | TTCCTCCT others(2): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01109.hp1 HG01243.hp1 others(29): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0064 others(29): Show |
32 | 72 | 0.4444 | 9 | c.314 others(30): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 92348511 | C | CATTTTTA others(2): Show |
intron_variant | MODIFIER | HG02630.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0011 | a0001c0001t0008g0049 a0001c0001t0011g0135 |
2 | 44 | 0.0455 | 9 | c.314 others(30): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 92355316 | A | ACTTGGGA others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00609.hp1 HG00621.hp1 others(109): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0015 a0001c0001t0001g0025 a0001c0001t0001g0028 others(109): Show |
112 | 154 | 0.7273 | 9 | c.314 others(30): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 92478636 | A | ATTCATGA others(2): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01256.hp1 HG01258.hp1 others(36): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0040 a0001c0001t0001g0059 a0001c0001t0001g0064 others(36): Show |
39 | 154 | 0.2532 | 9 | c.336 others(30): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PCDH11Y_chrY_4995296_5747224 | 5373094 | C | CCTCCCTC others(2): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 115 | 0.0087 | 9 | c.285 others(32): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
PCDH11Y_chrY_4995296_5747224 | 5393657 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02132.hp1 NA18948.hp1 NA18967.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 a0001c0001t0001g0036 a0001c0001t0001g0071 others(1): Show |
4 | 13 | 0.3077 | 9 | c.285 others(32): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
PCDH11Y_chrY_4995296_5747224 | 5603855 | A | AGAAAGAA others(2): Show |
intron_variant | MODIFIER | NA19056.hp1 NA19079.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0090 a0001c0001t0006g0076 |
2 | 31 | 0.0645 | 9 | c.307 others(30): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 5/5 | chrY | TogoVar | |||||||
PCDH11Y_chrY_4995296_5747224 | 5637921 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 5 | 0.2000 | 9 | c.307 others(30): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
PCDH11Y_chrY_4995296_5747224 | 5682239 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 a0001c0001t0001g0087 |
2 | 26 | 0.0769 | 9 | c.307 others(30): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
PCDH12_chr5_141938581_141963202 | 141945390 | C | CCTGCTGC others(2): Show |
disruptive_inframe_insertion | MODERATE | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(232): Show |
a0001a0007a0011others(5): Show | a0001c0001a0001c0002a0001c0010others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(17): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0011 others(59): Show |
235 | 399 | 0.5890 | 9 | c.353 others(18): Show |
p.Ser others(15): Show |
PCDH12 | ENSG00000113555.6 | transcript | ENST00000231484.4 | protein_coding | 4/4 | 3896/5706 | 3545/3555 | 1182/1184 | chr5 | TogoVar | |||
PCDH15_chr10_53797771_54806231 | 53828483 | C | CAGGCTGA others(2): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02896.hp1 HG03130.hp2 |
a0010a0020 | a0010c0009a0020c0029 | a0010c0009t0011a0010c0009t0012a0020c0029t0011 | a0010c0009t0011g0078 a0010c0009t0012g0046 a0020c0029t0011g0099 |
3 | 100 | 0.0300 | 9 | c.421 others(24): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 31/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53797771_54806231 | 53888702 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00741.hp1 HG02922.hp2 others(4): Show |
a0001a0003a0005others(3): Show | a0001c0042a0003c0003a0005c0040others(3): Show | a0001c0042t0016a0003c0003t0001a0003c0003t0003others(4): Show | a0001c0042t0016g0002 a0003c0003t0001g0018 a0003c0003t0003g0038 others(4): Show |
7 | 64 | 0.1094 | 9 | c.350 others(30): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 26/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53797771_54806231 | 53897959 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01884.hp2 HG02145.hp2 others(5): Show |
a0002a0005a0015others(4): Show | a0002c0002a0005c0005a0015c0023others(4): Show | a0002c0002t0004a0002c0002t0027a0005c0005t0009others(5): Show | a0002c0002t0004g0040 a0002c0002t0027g0063 a0005c0005t0009g0085 others(5): Show |
8 | 15 | 0.5333 | 9 | c.350 others(28): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 26/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53797771_54806231 | 54004426 | C | CACACACA others(2): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01243.hp2 HG01884.hp2 others(13): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0002c0021others(8): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0004others(11): Show | a0001c0001t0001g0090 a0001c0001t0003g0098 a0002c0002t0004g0040 others(13): Show |
16 | 57 | 0.2807 | 9 | c.275 others(28): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 20/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53797771_54806231 | 54099513 | A | AAAAAAAT others(2): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01175.hp2 HG03041.hp2 others(1): Show |
a0001a0004a0014others(1): Show | a0001c0001a0004c0004a0014c0033others(1): Show | a0001c0001t0003a0004c0004t0005a0014c0033t0017others(1): Show | a0001c0001t0003g0098 a0004c0004t0005g0027 a0014c0033t0017g0030 others(1): Show |
4 | 66 | 0.0606 | 9 | c.191 others(28): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 15/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53797771_54806231 | 54198495 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01243.hp2 HG02027.hp2 others(7): Show |
a0001a0004a0006others(4): Show | a0001c0001a0004c0004a0006c0006others(4): Show | a0001c0001t0001a0001c0001t0003a0004c0004t0002others(7): Show | a0001c0001t0001g0090 a0001c0001t0003g0098 a0004c0004t0002g0096 others(7): Show |
10 | 53 | 0.1887 | 9 | c.109 others(28): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 10/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53797771_54806231 | 54199564 | C | CAATAATA others(2): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02486.hp1 HG03209.hp2 |
a0002a0019a0028 | a0002c0021a0019c0019a0028c0011 | a0002c0021t0021a0019c0019t0015a0028c0011t0012 | a0002c0021t0021g0047 a0019c0019t0015g0001 a0028c0011t0012g0086 |
3 | 86 | 0.0349 | 9 | c.109 others(28): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 10/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53797771_54806231 | 54199567 | C | CAATAATA others(2): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01081.hp2 HG01261.hp2 others(15): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0020others(12): Show | a0001c0001t0001g0014 a0001c0001t0001g0042 a0001c0001t0001g0043 others(15): Show |
18 | 71 | 0.2535 | 9 | c.109 others(28): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 10/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53797771_54806231 | 54199570 | C | CAACAATA others(2): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01243.hp2 HG02258.hp2 others(4): Show |
a0001a0005a0022others(1): Show | a0001c0001a0005c0005a0022c0013others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0006 a0001c0001t0001g0090 a0001c0001t0002g0068 others(4): Show |
7 | 8 | 0.8750 | 9 | c.109 others(28): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 10/37 | chr10 | TogoVar |