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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PAH_chr12_102831889_102922244 | 102871936 | AAAAAAAA others(16): Show |
A | intron_variant | MODIFIER | HG01358.hp1 HG03579.hp1 NA18992.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0174 a0001c0001t0001g0181 a0001c0001t0001g0182 others(2): Show |
5 | 302 | 0.0166 | -23 | c.442 others(40): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | TogoVar | |||||||
PAH_chr12_102831889_102922244 | 102871938 | AAAAAAAA others(16): Show |
A | intron_variant | MODIFIER | HG03486.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0184 a0001c0001t0002g0012 |
2 | 306 | 0.0065 | -23 | c.442 others(40): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196759498 | GTTTTTTT others(16): Show |
G | intron_variant | MODIFIER | HG01496.hp1 HG01934.hp1 HG01943.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0006a0001c0001t0008a0001c0003t0006others(1): Show | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0003t0006g0066 others(5): Show |
8 | 24 | 0.3333 | -23 | c.-22 others(42): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196804727 | CCAAAGTG others(16): Show |
C | intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0060 | a0001c0001t0060g0107 | 1 | 176 | 0.0057 | -23 | c.437 others(38): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 4/14 | chr3 | TogoVar | |||||||
PALB2_chr16_23598165_23646310 | 23645110 | TATATATA others(16): Show |
T | upstream_gene_variant | MODIFIER | HG02647.hp2 HG02897.hp2 HG03471.hp2 others(3): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0002 | a0002c0002t0001g0286 a0003c0003t0002g0039 a0003c0003t0002g0040 others(3): Show |
6 | 324 | 0.0185 | -23 | c.-39 others(34): Show |
PALB2 | ENSG00000083093.11 | transcript | ENST00000261584.9 | protein_coding | 3801 | chr16 | TogoVar | |||||||
PALLD_chr4_168492052_168933441 | 168759203 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG04115.hp2 NA19043.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0008a0001c0001t0009a0001c0004t0018others(1): Show | a0001c0001t0008g0054 a0001c0001t0009g0142 a0001c0004t0018g0021 others(1): Show |
4 | 134 | 0.0299 | -23 | c.196 others(44): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | chr4 | TogoVar | |||||||
PALM2AKAP2_chr9_109775198_110177512 | 110077530 | CGTCTCTG others(16): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00621.hp1 others(48): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0002c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(17): Show | a0001c0001t0001g0030 a0001c0001t0001g0042 a0001c0001t0001g0088 others(48): Show |
51 | 220 | 0.2318 | -23 | c.583 others(42): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PALM_chr19_703935_753329 | 741381 | TGGGCTGC others(16): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG02083.hp1 others(16): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0004a0001c0002t0005a0002c0001t0005 | a0001c0002t0004g0020 a0001c0002t0004g0077 a0001c0002t0004g0196 others(16): Show |
19 | 402 | 0.0473 | -23 | c.634 others(38): Show |
PALM | ENSG00000099864.18 | transcript | ENST00000338448.10 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PALM_chr19_703935_753329 | 741473 | CGGGCTGC others(16): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG02451.hp1 HG02970.hp1 others(2): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0001 | a0001c0002t0001g0010 a0001c0002t0001g0264 a0002c0001t0001g0047 others(1): Show |
5 | 399 | 0.0125 | -23 | c.634 others(40): Show |
PALM | ENSG00000099864.18 | transcript | ENST00000338448.10 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PALS1_chr14_67236435_67341061 | 67284547 | TAAAAAAA others(16): Show |
T | intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 137 | 0.0073 | -23 | c.367 others(40): Show |
PALS1 | ENSG00000072415.10 | transcript | ENST00000261681.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PANK1_chr10_89577988_89650242 | 89595826 | AAAAAAAA others(16): Show |
A | intron_variant | MODIFIER | HG01433.hp1 HG02145.hp1 HG02647.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0104 a0001c0001t0001g0204 a0001c0002t0002g0230 others(4): Show |
7 | 360 | 0.0194 | -23 | c.900 others(40): Show |
PANK1 | ENSG00000152782.19 | transcript | ENST00000307534.10 | protein_coding | 3/6 | chr10 | TogoVar | |||||||
PANK1_chr10_89577988_89650242 | 89595830 | AAAAATAT others(16): Show |
A | intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0225 | 1 | 359 | 0.0028 | -23 | c.900 others(40): Show |
PANK1 | ENSG00000152782.19 | transcript | ENST00000307534.10 | protein_coding | 3/6 | chr10 | TogoVar | |||||||
PANK1_chr10_89577988_89650242 | 89595832 | AAATATAT others(16): Show |
A | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0221 | 1 | 355 | 0.0028 | -23 | c.900 others(40): Show |
PANK1 | ENSG00000152782.19 | transcript | ENST00000307534.10 | protein_coding | 3/6 | chr10 | TogoVar | |||||||
PANK2_chr20_3884387_3934887 | 3888162 | AAGGATCA others(16): Show |
A | upstream_gene_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0077 | a0001c0001t0077g0002 | 1 | 420 | 0.0024 | -23 | c.-12 others(34): Show |
PANK2 | ENSG00000125779.24 | transcript | ENST00000610179.7 | protein_coding | 1224 | chr20 | TogoVar | |||||||
PANK4_chr1_2503537_2531596 | 2530947 | ACCCGGCA others(16): Show |
A | upstream_gene_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0100 | 1 | 398 | 0.0025 | -23 | c.-43 others(34): Show |
PANK4 | ENSG00000157881.16 | transcript | ENST00000378466.9 | protein_coding | 4352 | chr1 | TogoVar | |||||||
PAOX_chr10_133374262_133396694 | 133379846 | GACAGGGC others(16): Show |
G | intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0100 | 1 | 344 | 0.0029 | -23 | c.182 others(38): Show |
PAOX | ENSG00000148832.16 | transcript | ENST00000278060.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69300649 | CTTTTCTT others(16): Show |
C | intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0272 | 1 | 277 | 0.0036 | -23 | c.-27 others(42): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 204570887 | CAACTGAG others(16): Show |
C | intron_variant | MODIFIER | HG02630.hp2 HG03130.hp2 NA18522.hp2 |
a0001a0004 | a0001c0003a0004c0012 | a0001c0003t0003a0001c0003t0016a0004c0012t0003 | a0001c0003t0003g0047 a0001c0003t0016g0046 a0004c0012t0003g0048 |
3 | 54 | 0.0556 | -23 | c.120 others(42): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 205380273 | ATATAATA others(16): Show |
A | intron_variant | MODIFIER | HG02886.hp1 HG03139.hp1 NA19030.hp2 others(1): Show |
a0001a0004a0007others(1): Show | a0001c0003a0004c0011a0007c0017others(1): Show | a0001c0003t0008a0004c0011t0003a0007c0017t0012others(1): Show | a0001c0003t0008g0049 a0004c0011t0003g0043 a0007c0017t0012g0006 others(1): Show |
4 | 54 | 0.0741 | -23 | c.263 others(44): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3_chr10_34104561_34820296 | 34383684 | GTGTATCT others(16): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG01099.hp1 HG01109.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0002t0002 | a0001c0001t0001g0084 a0001c0001t0005g0098 a0001c0002t0002g0002 others(1): Show |
4 | 98 | 0.0408 | -23 | c.101 others(40): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 8/24 | chr10 | TogoVar | |||||||
PARD3_chr10_34104561_34820296 | 34505574 | TCTGTGGA others(16): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG01109.hp2 HG02723.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003a0001c0002t0007 | a0001c0002t0002g0039 a0001c0002t0003g0057 a0001c0002t0007g0031 |
3 | 98 | 0.0306 | -23 | c.403 others(42): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 3/24 | chr10 | TogoVar | |||||||
PARD3_chr10_34104561_34820296 | 34651011 | CAAAAAAA others(16): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01109.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0084 a0001c0001t0005g0098 |
2 | 9 | 0.2222 | -23 | c.222 others(42): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 2/24 | chr10 | TogoVar | |||||||
PARD3_chr10_34104561_34820296 | 34681754 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027 | 1 | 95 | 0.0105 | -23 | c.222 others(42): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 2/24 | chr10 | TogoVar | |||||||
PARL_chr3_183824271_183889880 | 183882222 | AATATATA others(16): Show |
A | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 287 | 0.0035 | -23 | c.125 others(40): Show |
PARL | ENSG00000175193.14 | transcript | ENST00000317096.9 | protein_coding | 1/9 | chr3 | TogoVar | |||||||
PARL_chr3_183824271_183889880 | 183882223 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02895.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0005 a0002c0002t0001g0175 |
2 | 333 | 0.0060 | -23 | c.125 others(40): Show |
PARL | ENSG00000175193.14 | transcript | ENST00000317096.9 | protein_coding | 1/9 | chr3 | TogoVar | |||||||
PARP14_chr3_122675839_122735840 | 122703008 | AAACAAAA others(16): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00558.hp2 others(31): Show |
a0002a0009a0013 | a0002c0002a0009c0014a0013c0013 | a0002c0002t0004a0002c0002t0013a0002c0002t0025others(3): Show | a0002c0002t0004g0001 a0002c0002t0004g0005 a0002c0002t0004g0022 others(27): Show |
34 | 364 | 0.0934 | -23 | c.308 others(40): Show |
PARP14 | ENSG00000173193.15 | transcript | ENST00000474629.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PARP2_chr14_20338635_20362904 | 20347378 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0136 | 1 | 418 | 0.0024 | -23 | c.324 others(38): Show |
PARP2 | ENSG00000129484.14 | transcript | ENST00000429687.8 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PARVG_chr22_44175925_44213469 | 44210392 | CTCAAGAT others(16): Show |
C | downstream_gene_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0174 | 1 | 420 | 0.0024 | -23 | c.*39 others(34): Show |
PARVG | ENSG00000138964.17 | transcript | ENST00000444313.8 | protein_coding | 1924 | chr22 | TogoVar | |||||||
PASK_chr2_241101099_241154472 | 241128996 | TGCCTCTC others(16): Show |
T | intron_variant | MODIFIER | HG00597.hp2 HG01081.hp1 HG01099.hp2 others(66): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0002c0005others(12): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(15): Show | a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0002t0001g0026 others(58): Show |
69 | 374 | 0.1845 | -23 | c.146 others(42): Show |
PASK | ENSG00000115687.14 | transcript | ENST00000234040.9 | protein_coding | 9/17 | chr2 | TogoVar | |||||||
PASK_chr2_241101099_241154472 | 241129021 | CCTCTCTC others(16): Show |
C | intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0201 | 1 | 374 | 0.0027 | -23 | c.146 others(42): Show |
PASK | ENSG00000115687.14 | transcript | ENST00000234040.9 | protein_coding | 9/17 | chr2 | TogoVar | |||||||
PAWR_chr12_79579879_79695964 | 79613965 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0044 | 1 | 250 | 0.0040 | -23 | c.649 others(38): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 3/6 | chr12 | TogoVar | |||||||
PAWR_chr12_79579879_79695964 | 79689397 | ACAGCCAA others(16): Show |
A | intron_variant | MODIFIER | NA18942.hp2 NA18956.hp2 |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0014 | a0001c0003t0003g0160 a0001c0003t0014g0161 |
2 | 254 | 0.0079 | -23 | c.516 others(38): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 2/6 | chr12 | TogoVar | |||||||
PAX8_chr2_113210997_113283921 | 113255230 | GGGGAGGA others(16): Show |
G | intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0032 | 1 | 282 | 0.0035 | -23 | c.26- others(38): Show |
PAX8 | ENSG00000125618.18 | transcript | ENST00000429538.8 | protein_coding | 2/11 | chr2 | TogoVar | |||||||
PBLD_chr10_68277660_68337928 | 68306061 | AGGTCAAT others(16): Show |
A | intron_variant | MODIFIER | HG02976.hp2 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0277 a0001c0001t0001g0278 |
2 | 362 | 0.0055 | -23 | c.84+ others(36): Show |
PBLD | ENSG00000108187.16 | transcript | ENST00000358769.7 | protein_coding | 2/9 | chr10 | TogoVar | |||||||
PBRM1_chr3_52540367_52690913 | 52596436 | CAAAAAAA others(16): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00741.hp1 others(21): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0002a0001c0001t0015a0001c0003t0001others(3): Show | a0001c0001t0002g0030 a0001c0001t0002g0096 a0001c0001t0015g0004 others(21): Show |
24 | 56 | 0.4286 | -23 | c.282 others(42): Show |
PBRM1 | ENSG00000163939.19 | transcript | ENST00000707071.1 | protein_coding | 19/31 | chr3 | TogoVar | |||||||
PBRM1_chr3_52540367_52690913 | 52676130 | AAAAAAAA others(16): Show |
A | intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 | 1 | 298 | 0.0034 | -23 | c.236 others(40): Show |
PBRM1 | ENSG00000163939.19 | transcript | ENST00000707071.1 | protein_coding | 3/31 | chr3 | TogoVar | |||||||
PBX3_chr9_125742373_125972377 | 125943352 | CAAAAAAA others(16): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG01168.hp1 HG01346.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0176 a0001c0001t0002g0058 a0001c0001t0002g0067 others(5): Show |
8 | 12 | 0.6667 | -23 | c.843 others(40): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 92132285 | CAAAAAAA others(16): Show |
C | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0049 | 1 | 33 | 0.0303 | -23 | c.303 others(44): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 53888679 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0006 a0001c0001t0004g0035 |
2 | 100 | 0.0200 | -23 | c.350 others(44): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 26/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53797771_54806231 | 54454300 | GATAGATT others(16): Show |
G | intron_variant | MODIFIER | HG03225.hp2 | a0029 | a0029c0026 | a0029c0026t0008 | a0029c0026t0008g0082 | 1 | 100 | 0.0100 | -23 | c.157 others(42): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 3/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53797771_54806231 | 54774007 | CTTTTTTT others(16): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG02615.hp2 HG02922.hp1 others(6): Show |
a0001a0003a0005others(2): Show | a0001c0001a0003c0003a0005c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(6): Show | a0001c0001t0001g0089 a0001c0001t0003g0088 a0001c0001t0008g0003 others(6): Show |
9 | 14 | 0.6429 | -23 | c.-29 others(42): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 1/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 53888679 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0006 a0001c0001t0002g0032 |
2 | 92 | 0.0217 | -23 | c.350 others(44): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 26/32 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 54454300 | GATAGATT others(16): Show |
G | intron_variant | MODIFIER | HG03225.hp2 | a0022 | a0022c0032 | a0022c0032t0001 | a0022c0032t0001g0074 | 1 | 92 | 0.0109 | -23 | c.157 others(42): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 3/32 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 54774007 | CTTTTTTT others(16): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG02615.hp2 HG02922.hp1 others(6): Show |
a0001a0003a0005others(2): Show | a0001c0001a0001c0007a0003c0003others(4): Show | a0001c0001t0001a0001c0007t0001a0003c0003t0001others(5): Show | a0001c0001t0001g0003 a0001c0001t0001g0081 a0001c0007t0001g0080 others(6): Show |
9 | 14 | 0.6429 | -23 | c.-29 others(42): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 1/32 | chr10 | TogoVar | |||||||
PCDH7_chr4_30715369_31151800 | 30739114 | TATATATA others(16): Show |
T | intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0056 | 1 | 214 | 0.0047 | -23 | c.317 others(44): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCDH7_chr4_30715369_31151800 | 30894479 | AAAAAAAA others(16): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01496.hp2 HG01993.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0010others(2): Show | a0001c0001t0001g0185 a0001c0001t0006g0199 a0001c0001t0010g0206 others(2): Show |
5 | 210 | 0.0238 | -23 | c.317 others(44): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCDH7_chr4_30715369_31151800 | 31056441 | GGAAAGAA others(16): Show |
G | intron_variant | MODIFIER | HG02615.hp2 NA20129.hp2 |
a0001 | a0001c0001a0001c0016 | a0001c0001t0020a0001c0016t0034 | a0001c0001t0020g0013 a0001c0016t0034g0101 |
2 | 202 | 0.0099 | -23 | c.339 others(44): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCDHB12_chr5_141203719_141217571 | 141206444 | CACTTAGA others(16): Show |
C | upstream_gene_variant | MODIFIER | NA19076.hp1 | a0022 | a0022c0033 | a0022c0033t0003 | a0022c0033t0003g0000 | 1 | 430 | 0.0023 | -23 | c.-24 others(34): Show |
PCDHB12 | ENSG00000120328.6 | transcript | ENST00000239450.4 | protein_coding | 2274 | chr5 | TogoVar | |||||||
PCDHGA10_chr5_141407987_141517975 | 141417504 | AAAATATT others(16): Show |
A | intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0156 | 1 | 304 | 0.0033 | -23 | c.243 others(42): Show |
PCDHGA10 | ENSG00000253846.3 | transcript | ENST00000398610.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGA11_chr5_141416051_141517975 | 141417504 | AAAATATT others(16): Show |
A | upstream_gene_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0297 | 1 | 308 | 0.0032 | -23 | c.-37 others(34): Show |
PCDHGA11 | ENSG00000253873.6 | transcript | ENST00000398587.7 | protein_coding | 3546 | chr5 | TogoVar |