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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PAQR8_chr6_52357151_52412777 | 52406300 | A | AGAGAGGA others(12): Show |
3_prime_UTR_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0003 | a0001c0003t0082 | a0001c0003t0082g0006 | 1 | 388 | 0.0026 | 19 | c.*20 others(30): Show |
PAQR8 | ENSG00000170915.9 | transcript | ENST00000442253.3 | protein_coding | 2/2 | 2028 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PARD3B_chr2_204540475_205625162 | 204643115 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0010 | 1 | 12 | 0.0833 | 19 | c.121 others(38): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 205054437 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0022 | a0002c0022t0018 | a0002c0022t0018g0020 | 1 | 45 | 0.0222 | 19 | c.504 others(36): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 4/22 | chr2 | TogoVar | |||||||
PARD3_chr10_34104561_34820296 | 34432041 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00099.hp2 HG03041.hp2 |
a0001 | a0001c0003a0001c0014 | a0001c0003t0022a0001c0014t0001 | a0001c0003t0022g0079 a0001c0014t0001g0065 |
2 | 14 | 0.1429 | 19 | c.714 others(38): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 5/24 | chr10 | TogoVar | |||||||
PARD3_chr10_34104561_34820296 | 34640708 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02886.hp2 |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0017a0004c0007t0008 | a0001c0001t0017g0040 a0004c0007t0008g0043 |
2 | 8 | 0.2500 | 19 | c.222 others(38): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 2/24 | chr10 | TogoVar | |||||||
PARD3_chr10_34104561_34820296 | 34666796 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02809.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0073 a0001c0002t0003g0056 |
2 | 64 | 0.0313 | 19 | c.222 others(38): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 2/24 | chr10 | TogoVar | |||||||
PARD6B_chr20_50726580_50758741 | 50750954 | A | ATTTTTTT others(12): Show |
3_prime_UTR_variant | MODIFIER | HG00423.hp1 HG02129.hp1 NA18951.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0074a0001c0001t0075 | a0001c0001t0020g0001 a0001c0001t0020g0082 a0001c0001t0020g0092 others(3): Show |
6 | 45 | 0.1333 | 19 | c.*48 others(28): Show |
PARD6B | ENSG00000124171.9 | transcript | ENST00000371610.7 | protein_coding | 3/3 | 499 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PARG_chr10_49813279_49947027 | 49927369 | G | GGAAAGAA others(12): Show |
intron_variant | MODIFIER | NA19089.hp2 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0145 | 1 | 40 | 0.0250 | 19 | c.145 others(38): Show |
PARG | ENSG00000227345.9 | transcript | ENST00000616448.2 | protein_coding | 4/17 | chr10 | TogoVar | |||||||
PARN_chr16_14430701_14635260 | 14501435 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00597.hp2 HG02895.hp1 HG03139.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0007 | a0001c0001t0002g0019 a0001c0001t0004g0023 a0001c0001t0007g0052 others(1): Show |
4 | 10 | 0.4000 | 19 | c.148 others(40): Show |
PARN | ENSG00000140694.18 | transcript | ENST00000437198.7 | protein_coding | 21/23 | chr16 | TogoVar | |||||||
PARP14_chr3_122675839_122735840 | 122677565 | A | AAAAATAT others(12): Show |
upstream_gene_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0265 | 1 | 213 | 0.0047 | 19 | c.-33 others(30): Show |
PARP14 | ENSG00000173193.15 | transcript | ENST00000474629.7 | protein_coding | 3273 | chr3 | TogoVar | |||||||
PARP15_chr3_122572650_122644047 | 122601036 | G | GTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0025 | a0025c0033 | a0025c0033t0001 | a0025c0033t0001g0301 | 1 | 209 | 0.0048 | 19 | c.187 others(36): Show |
PARP15 | ENSG00000173200.13 | transcript | ENST00000464300.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PARP16_chr15_65253099_65291883 | 65273276 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02559.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0158 a0001c0002t0001g0088 |
2 | 78 | 0.0256 | 19 | c.175 others(36): Show |
PARP16 | ENSG00000138617.16 | transcript | ENST00000649807.2 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
PARP4_chr13_24415931_24517778 | 24425206 | T | TGGGAGGA others(12): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 HG03098.hp1 others(3): Show |
a0012a0040 | a0012c0014a0012c0031a0040c0054 | a0012c0014t0001a0012c0031t0001a0040c0054t0001 | a0012c0014t0001g0329 a0012c0014t0001g0330 a0012c0014t0001g0331 others(3): Show |
6 | 359 | 0.0167 | 19 | c.497 others(38): Show |
PARP4 | ENSG00000102699.6 | transcript | ENST00000381989.4 | protein_coding | 33/33 | chr13 | TogoVar | |||||||
PARP4_chr13_24415931_24517778 | 24455480 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG02602.hp1 HG02602.hp2 |
a0001a0002 | a0001c0017a0002c0002 | a0001c0017t0001a0002c0002t0001 | a0001c0017t0001g0060 a0002c0002t0001g0051 |
2 | 173 | 0.0116 | 19 | c.256 others(36): Show |
PARP4 | ENSG00000102699.6 | transcript | ENST00000381989.4 | protein_coding | 21/33 | chr13 | TogoVar | |||||||
PARVA_chr11_12372571_12540356 | 12406661 | G | GTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0002 | a0001c0002t0050 | a0001c0002t0050g0169 | 1 | 155 | 0.0065 | 19 | c.136 others(38): Show |
PARVA | ENSG00000197702.14 | transcript | ENST00000334956.15 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PARVB_chr22_44019302_44177939 | 44151029 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0002 | a0001c0002t0052 | a0001c0002t0052g0017 | 1 | 130 | 0.0077 | 19 | c.775 others(34): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PATJ_chr1_61737480_62168915 | 61777703 | C | CTTTCTTT others(12): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0022 | a0022c0110 | a0022c0110t0003 | a0022c0110t0003g0126 | 1 | 61 | 0.0164 | 19 | c.849 others(36): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 7/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PATJ_chr1_61737480_62168915 | 61777724 | T | TTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0059 | a0001c0059t0005 | a0001c0059t0005g0098 | 1 | 81 | 0.0123 | 19 | c.849 others(36): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 7/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PATJ_chr1_61737480_62168915 | 61796671 | T | TTTCTTTC others(12): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02280.hp2 HG02451.hp1 others(1): Show |
a0002a0013a0024 | a0002c0020a0002c0030a0013c0004others(1): Show | a0002c0020t0019a0002c0030t0004a0013c0004t0002others(1): Show | a0002c0020t0019g0069 a0002c0030t0004g0081 a0013c0004t0002g0072 others(1): Show |
4 | 156 | 0.0256 | 19 | c.126 others(36): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 10/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PATJ_chr1_61737480_62168915 | 62036871 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01074.hp2 HG02647.hp2 HG03453.hp2 |
a0001a0030a0043 | a0001c0024a0030c0136a0043c0133 | a0001c0024t0002a0030c0136t0010a0043c0133t0011 | a0001c0024t0002g0139 a0030c0136t0010g0056 a0043c0133t0011g0058 |
3 | 49 | 0.0612 | 19 | c.396 others(38): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 29/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PATJ_chr1_61737480_62168915 | 62062392 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01496.hp2 HG03492.hp2 |
a0003a0009 | a0003c0003a0009c0051 | a0003c0003t0001a0009c0051t0001 | a0003c0003t0001g0052 a0009c0051t0001g0051 |
2 | 86 | 0.0233 | 19 | c.412 others(40): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 31/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PATJ_chr1_61737480_62168915 | 62067123 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02258.hp2 HG03041.hp1 |
a0032a0038a0051 | a0032c0134a0038c0087a0051c0129 | a0032c0134t0003a0038c0087t0007a0051c0129t0003 | a0032c0134t0003g0062 a0038c0087t0007g0027 a0051c0129t0003g0147 |
3 | 58 | 0.0517 | 19 | c.412 others(40): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 31/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PATJ_chr1_61737480_62168915 | 62099347 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0005 | a0005c0124 | a0005c0124t0002 | a0005c0124t0002g0004 | 1 | 47 | 0.0213 | 19 | c.437 others(38): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 33/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PATJ_chr1_61737480_62168915 | 62143438 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0003 | a0003c0009 | a0003c0009t0008 | a0003c0009t0008g0133 | 1 | 38 | 0.0263 | 19 | c.527 others(38): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 41/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PATJ_chr1_61737480_62168915 | 62144771 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02040.hp2 HG03130.hp2 others(2): Show |
a0002a0005a0007others(2): Show | a0002c0061a0005c0124a0007c0006others(2): Show | a0002c0061t0003a0005c0124t0002a0007c0006t0002others(2): Show | a0002c0061t0003g0099 a0005c0124t0002g0004 a0007c0006t0002g0036 others(2): Show |
5 | 125 | 0.0400 | 19 | c.527 others(38): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 41/43 | chr1 | TogoVar | |||||||
PATJ_chr1_61737480_62168915 | 62144773 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0004 | a0004c0011 | a0004c0011t0002 | a0004c0011t0002g0152 | 1 | 117 | 0.0085 | 19 | c.527 others(38): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 41/43 | chr1 | TogoVar | |||||||
PAWR_chr12_79579879_79695964 | 79638896 | A | ATATTTTT others(12): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0005 | a0005c0007 | a0005c0007t0034 | a0005c0007t0034g0254 | 1 | 129 | 0.0078 | 19 | c.517 others(38): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 2/6 | chr12 | TogoVar | |||||||
PAX6_chr11_31784026_31816322 | 31815029 | T | TCTCTCTC others(12): Show |
upstream_gene_variant | MODIFIER | HG01981.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0046 a0001c0001t0003g0055 |
2 | 354 | 0.0056 | 19 | c.-42 others(30): Show |
PAX6 | ENSG00000007372.25 | transcript | ENST00000640368.2 | protein_coding | 3708 | chr11 | TogoVar | |||||||
PBRM1_chr3_52540367_52690913 | 52542619 | C | CAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | HG00673.hp1 HG02055.hp2 HG03041.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0278 a0001c0001t0001g0282 a0001c0001t0002g0036 others(1): Show |
4 | 7 | 0.5714 | 19 | c.*54 others(30): Show |
PBRM1 | ENSG00000163939.19 | transcript | ENST00000707071.1 | protein_coding | 2747 | chr3 | TogoVar | |||||||
PBRM1_chr3_52540367_52690913 | 52636757 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01978.hp1 NA19081.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0121 a0001c0002t0001g0208 |
2 | 110 | 0.0182 | 19 | c.108 others(38): Show |
PBRM1 | ENSG00000163939.19 | transcript | ENST00000707071.1 | protein_coding | 11/31 | chr3 | TogoVar | |||||||
PBX1_chr1_164554184_164856831 | 164724670 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 4 | 0.2500 | 19 | c.266 others(38): Show |
PBX1 | ENSG00000185630.20 | transcript | ENST00000420696.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PCBD2_chr5_134900131_134967644 | 134904246 | C | CAAAAAAA others(12): Show |
upstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0293 | 1 | 194 | 0.0052 | 19 | c.-89 others(28): Show |
PCBD2 | ENSG00000132570.15 | transcript | ENST00000254908.11 | protein_coding | 884 | chr5 | TogoVar | |||||||
PCBP2_chr12_53447102_53486162 | 53452150 | T | TCCCGCCC others(12): Show |
5_prime_UTR_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0001 | 1 | 345 | 0.0029 | 19 | c.-28 others(28): Show |
PCBP2 | ENSG00000197111.16 | transcript | ENST00000546463.6 | protein_coding | 1/15 | 2610 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PCBP2_chr12_53447102_53486162 | 53479671 | G | GTTTTTTT others(12): Show |
3_prime_UTR_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0008 | 1 | 333 | 0.0030 | 19 | c.*24 others(28): Show |
PCBP2 | ENSG00000197111.16 | transcript | ENST00000546463.6 | protein_coding | 15/15 | 242 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PCBP3_chr21_45638725_45947450 | 45642967 | A | ACCCGCCC others(12): Show |
upstream_gene_variant | MODIFIER | HG02559.hp2 HG03098.hp1 |
a0001 | a0001c0003 | a0001c0003t0014 | a0001c0003t0014g0289 a0001c0003t0014g0290 |
2 | 290 | 0.0069 | 19 | c.-11 others(30): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 757 | chr21 | TogoVar | |||||||
PCBP3_chr21_45638725_45947450 | 45646089 | C | CTCTCTCT others(12): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0257 | 1 | 285 | 0.0035 | 19 | c.-27 others(38): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCCA_chr13_100084093_100535435 | 100188325 | A | AAAACAAA others(12): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0080 | 1 | 155 | 0.0065 | 19 | c.469 others(38): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PCCA_chr13_100084093_100535435 | 100400630 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01109.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0115 |
2 | 82 | 0.0244 | 19 | c.174 others(40): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PCCA_chr13_100084093_100535435 | 100422070 | T | TTTCTTTC others(12): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01169.hp1 NA19064.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0002t0001g0073 |
3 | 60 | 0.0500 | 19 | c.174 others(38): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PCCA_chr13_100084093_100535435 | 100469211 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02486.hp2 NA18947.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 a0001c0001t0001g0146 |
2 | 59 | 0.0339 | 19 | c.189 others(40): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 92111219 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02300.hp1 HG02602.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0019 a0001c0001t0001g0109 a0001c0001t0001g0132 others(6): Show |
9 | 31 | 0.2903 | 19 | c.303 others(40): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 92375166 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02895.hp1 HG03139.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0023a0001c0002t0008 | a0001c0001t0005g0055 a0001c0001t0023g0014 a0001c0002t0008g0008 |
3 | 21 | 0.1429 | 19 | c.314 others(40): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 92399192 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0051 | 1 | 71 | 0.0141 | 19 | c.334 others(40): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 53888702 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01934.hp2 HG01981.hp2 others(4): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0005others(3): Show | a0001c0001t0001g0043 a0001c0001t0003g0019 a0002c0002t0005g0015 others(4): Show |
7 | 64 | 0.1094 | 19 | c.350 others(40): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 26/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53797771_54806231 | 54296144 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02486.hp2 HG02622.hp2 others(1): Show |
a0002a0004a0020others(1): Show | a0002c0021a0004c0004a0020c0029others(1): Show | a0002c0021t0021a0004c0004t0025a0020c0029t0011others(1): Show | a0002c0021t0021g0047 a0004c0004t0025g0037 a0020c0029t0011g0099 others(1): Show |
4 | 19 | 0.2105 | 19 | c.876 others(38): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 8/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53797771_54806231 | 54325013 | C | CTTTCATA others(12): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00735.hp1 HG00735.hp2 others(73): Show |
a0001a0002a0003others(26): Show | a0001c0001a0002c0002a0002c0021others(28): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(55): Show | a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0022 others(73): Show |
76 | 99 | 0.7677 | 19 | c.705 others(36): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 7/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 53888702 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01934.hp2 HG01981.hp2 others(4): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0002c0006others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0006t0001others(2): Show | a0001c0001t0001g0019 a0001c0001t0001g0040 a0002c0002t0001g0061 others(4): Show |
7 | 57 | 0.1228 | 19 | c.350 others(40): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 26/32 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 54296144 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02486.hp2 HG02622.hp1 others(1): Show |
a0004a0008a0015others(1): Show | a0004c0004a0008c0015a0015c0027others(1): Show | a0004c0004t0005a0008c0015t0001a0015c0027t0001others(1): Show | a0004c0004t0005g0034 a0008c0015t0001g0028 a0015c0027t0001g0044 others(1): Show |
4 | 19 | 0.2105 | 19 | c.876 others(38): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 8/32 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 54325013 | C | CTTTCATA others(12): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00735.hp1 HG00735.hp2 others(65): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0007a0002c0002others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0007t0001others(38): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0010 others(65): Show |
68 | 91 | 0.7473 | 19 | c.705 others(36): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 7/32 | chr10 | TogoVar | |||||||
PCDH19_chrX_100286644_100415273 | 100322865 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0057 | 1 | 180 | 0.0056 | 19 | c.284 others(40): Show |
PCDH19 | ENSG00000165194.15 | transcript | ENST00000373034.8 | protein_coding | 5/5 | chrX | TogoVar |