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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PARS2_chr1_54751898_54769523 | 54769491 | T | TTTTACCC others(15): Show |
upstream_gene_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 | 1 | 412 | 0.0024 | 22 | c.-50 others(33): Show |
PARS2 | ENSG00000162396.6 | transcript | ENST00000371279.4 | protein_coding | 4969 | chr1 | TogoVar | |||||||
PARVA_chr11_12372571_12540356 | 12475748 | T | TGGCTAGG others(15): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG00642.hp2 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0063 a0001c0001t0001g0120 a0001c0001t0001g0173 others(28): Show |
31 | 286 | 0.1084 | 22 | c.297 others(39): Show |
PARVA | ENSG00000197702.14 | transcript | ENST00000334956.15 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PARVA_chr11_12372571_12540356 | 12475758 | G | GCCATGCA others(15): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00673.hp2 HG02015.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0163 a0001c0001t0002g0192 a0001c0001t0003g0098 others(13): Show |
16 | 286 | 0.0559 | 22 | c.297 others(39): Show |
PARVA | ENSG00000197702.14 | transcript | ENST00000334956.15 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PARVB_chr22_44019302_44177939 | 44151029 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0191 | 1 | 332 | 0.0030 | 22 | c.775 others(37): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PASK_chr2_241101099_241154472 | 241113365 | C | CATATACA others(15): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00741.hp2 HG01109.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0031a0002c0005 | a0001c0001t0001a0001c0031t0002a0002c0005t0001others(1): Show | a0001c0001t0001g0005 a0001c0001t0001g0091 a0001c0001t0001g0092 others(10): Show |
15 | 376 | 0.0399 | 22 | c.333 others(39): Show |
PASK | ENSG00000115687.14 | transcript | ENST00000234040.9 | protein_coding | 14/17 | chr2 | TogoVar | |||||||
PATJ_chr1_61737480_62168915 | 61814547 | T | TGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0003 | a0003c0003 | a0003c0003t0017 | a0003c0003t0017g0015 | 1 | 158 | 0.0063 | 22 | c.168 others(41): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 14/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PATJ_chr1_61737480_62168915 | 61814547 | T | TGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0007 | a0007c0031 | a0007c0031t0015 | a0007c0031t0015g0119 | 1 | 158 | 0.0063 | 22 | c.168 others(41): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 14/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PATJ_chr1_61737480_62168915 | 61952253 | T | TGAGAGAG others(15): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02922.hp2 HG02976.hp2 |
a0001a0024a0050 | a0001c0021a0024c0064a0050c0085 | a0001c0021t0001a0024c0064t0001a0050c0085t0007 | a0001c0021t0001g0113 a0024c0064t0001g0142 a0050c0085t0007g0085 |
3 | 158 | 0.0190 | 22 | c.367 others(43): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 27/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PATJ_chr1_61737480_62168915 | 62062392 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01257.hp1 |
a0006a0033 | a0006c0069a0033c0132 | a0006c0069t0003a0033c0132t0003 | a0006c0069t0003g0077 a0033c0132t0003g0027 |
2 | 158 | 0.0127 | 22 | c.412 others(43): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 31/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PATJ_chr1_61737480_62168915 | 62086228 | A | ATGTGTGT others(15): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG01243.hp2 others(2): Show |
a0005a0009a0015others(1): Show | a0005c0072a0009c0054a0015c0010others(1): Show | a0005c0072t0036a0009c0054t0004a0015c0010t0004others(1): Show | a0005c0072t0036g0042 a0009c0054t0004g0127 a0015c0010t0004g0034 others(2): Show |
5 | 158 | 0.0317 | 22 | c.437 others(41): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 33/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PATJ_chr1_61737480_62168915 | 62086246 | G | GTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0032 | a0032c0134 | a0032c0134t0002 | a0032c0134t0002g0105 | 1 | 158 | 0.0063 | 22 | c.437 others(41): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 33/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PATJ_chr1_61737480_62168915 | 62099347 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0053 | a0053c0065 | a0053c0065t0033 | a0053c0065t0033g0043 | 1 | 158 | 0.0063 | 22 | c.437 others(41): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 33/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PATJ_chr1_61737480_62168915 | 62106156 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | HG02132.hp1 HG02735.hp1 HG03710.hp2 others(1): Show |
a0001a0006a0011others(1): Show | a0001c0048a0006c0016a0011c0079others(1): Show | a0001c0048t0009a0006c0016t0003a0011c0079t0003others(1): Show | a0001c0048t0009g0080 a0006c0016t0003g0005 a0011c0079t0003g0149 others(1): Show |
4 | 158 | 0.0253 | 22 | c.437 others(41): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 33/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PATJ_chr1_61737480_62168915 | 62106158 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | HG01257.hp1 NA18906.hp1 NA20129.hp2 |
a0006a0060a0063 | a0006c0069a0060c0103a0063c0067 | a0006c0069t0003a0060c0103t0020a0063c0067t0003 | a0006c0069t0003g0077 a0060c0103t0020g0074 a0063c0067t0003g0110 |
3 | 158 | 0.0190 | 22 | c.437 others(41): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 33/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PATJ_chr1_61737480_62168915 | 62106158 | G | GTGTGTAT others(15): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02647.hp2 |
a0001a0043 | a0001c0104a0043c0133 | a0001c0104t0014a0043c0133t0014 | a0001c0104t0014g0114 a0043c0133t0014g0101 |
2 | 158 | 0.0127 | 22 | c.437 others(41): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 33/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PATJ_chr1_61737480_62168915 | 62106158 | G | GTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01928.hp1 |
a0029a0035 | a0029c0078a0035c0081 | a0029c0078t0004a0035c0081t0031 | a0029c0078t0004g0070 a0035c0081t0031g0040 |
2 | 158 | 0.0127 | 22 | c.437 others(41): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 33/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PATJ_chr1_61737480_62168915 | 62106158 | G | GTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01099.hp1 HG01978.hp2 |
a0002a0003a0017 | a0002c0106a0003c0003a0017c0018 | a0002c0106t0012a0003c0003t0004a0017c0018t0004 | a0002c0106t0012g0104 a0003c0003t0004g0093 a0017c0018t0004g0054 |
3 | 158 | 0.0190 | 22 | c.437 others(41): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 33/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PATJ_chr1_61737480_62168915 | 62144769 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 158 | 0.0063 | 22 | c.527 others(41): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 41/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PATL1_chr11_59631716_59674037 | 59632747 | G | GATATATA others(15): Show |
downstream_gene_variant | MODIFIER | NA18949.hp1 NA18952.hp1 NA18973.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0035 others(1): Show |
5 | 276 | 0.0181 | 22 | c.*56 others(33): Show |
PATL1 | ENSG00000166889.14 | transcript | ENST00000300146.10 | protein_coding | 3968 | chr11 | TogoVar | |||||||
PAWR_chr12_79579879_79695964 | 79632318 | T | TATATACA others(15): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0037 | 1 | 256 | 0.0039 | 22 | c.517 others(41): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 2/6 | chr12 | TogoVar | |||||||
PAX5_chr9_36828269_37039268 | 36848350 | C | CCACACAC others(15): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02451.hp2 HG02559.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0008a0001c0002t0016others(2): Show | a0001c0001t0001g0108 a0001c0002t0008g0257 a0001c0002t0016g0098 others(5): Show |
8 | 274 | 0.0292 | 22 | c.101 others(41): Show |
PAX5 | ENSG00000196092.14 | transcript | ENST00000358127.9 | protein_coding | 8/9 | chr9 | TogoVar | |||||||
PAX5_chr9_36828269_37039268 | 36848350 | C | CCCCACAC others(15): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0002 | a0001c0002t0061 | a0001c0002t0061g0024 | 1 | 274 | 0.0037 | 22 | c.101 others(41): Show |
PAX5 | ENSG00000196092.14 | transcript | ENST00000358127.9 | protein_coding | 8/9 | chr9 | TogoVar | |||||||
PAX5_chr9_36828269_37039268 | 36984435 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0002 | a0001c0002t0087 | a0001c0002t0087g0202 | 1 | 274 | 0.0037 | 22 | c.605 others(41): Show |
PAX5 | ENSG00000196092.14 | transcript | ENST00000358127.9 | protein_coding | 5/9 | chr9 | TogoVar | |||||||
PAX6_chr11_31784026_31816322 | 31812300 | C | CTGTGTGT others(15): Show |
upstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 376 | 0.0027 | 22 | c.-15 others(33): Show |
PAX6 | ENSG00000007372.25 | transcript | ENST00000640368.2 | protein_coding | 979 | chr11 | TogoVar | |||||||
PAX6_chr11_31784026_31816322 | 31814990 | G | GTCTCTCT others(15): Show |
upstream_gene_variant | MODIFIER | HG00609.hp2 HG00621.hp1 HG02602.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0004 a0001c0001t0001g0021 a0001c0001t0001g0091 others(3): Show |
6 | 376 | 0.0160 | 22 | c.-42 others(33): Show |
PAX6 | ENSG00000007372.25 | transcript | ENST00000640368.2 | protein_coding | 3669 | chr11 | TogoVar | |||||||
PBK_chr8_27804624_27842817 | 27816343 | C | CTATATAT others(15): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02155.hp2 HG02486.hp2 others(13): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0003 a0002c0002t0002g0061 a0002c0002t0002g0072 others(3): Show |
16 | 392 | 0.0408 | 22 | c.595 others(39): Show |
PBK | ENSG00000168078.10 | transcript | ENST00000301905.9 | protein_coding | 6/7 | chr8 | TogoVar | |||||||
PBLD_chr10_68277660_68337928 | 68289663 | T | TCACACAC others(15): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 364 | 0.0028 | 22 | c.424 others(37): Show |
PBLD | ENSG00000108187.16 | transcript | ENST00000358769.7 | protein_coding | 6/9 | chr10 | TogoVar | |||||||
PBRM1_chr3_52540367_52690913 | 52542619 | C | CAAAAAAA others(15): Show |
downstream_gene_variant | MODIFIER | HG01975.hp2 HG02080.hp1 NA18522.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012a0001c0001t0019 | a0001c0001t0002g0013 a0001c0001t0002g0042 a0001c0001t0002g0051 others(2): Show |
5 | 300 | 0.0167 | 22 | c.*54 others(33): Show |
PBRM1 | ENSG00000163939.19 | transcript | ENST00000707071.1 | protein_coding | 2747 | chr3 | TogoVar | |||||||
PBRM1_chr3_52540367_52690913 | 52612258 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01346.hp1 HG01515.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0251 a0001c0003t0001g0252 a0001c0003t0001g0254 others(1): Show |
4 | 300 | 0.0133 | 22 | c.197 others(41): Show |
PBRM1 | ENSG00000163939.19 | transcript | ENST00000707071.1 | protein_coding | 17/31 | chr3 | TogoVar | |||||||
PBRM1_chr3_52540367_52690913 | 52636757 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG01516.hp1 HG01517.hp2 HG02015.hp1 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0179 a0001c0002t0001g0184 a0001c0002t0001g0185 others(7): Show |
10 | 300 | 0.0333 | 22 | c.108 others(41): Show |
PBRM1 | ENSG00000163939.19 | transcript | ENST00000707071.1 | protein_coding | 11/31 | chr3 | TogoVar | |||||||
PBRM1_chr3_52540367_52690913 | 52637773 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01261.hp1 HG01928.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0193 a0001c0002t0001g0220 a0001c0002t0001g0227 others(2): Show |
5 | 300 | 0.0167 | 22 | c.108 others(41): Show |
PBRM1 | ENSG00000163939.19 | transcript | ENST00000707071.1 | protein_coding | 11/31 | chr3 | TogoVar | |||||||
PBRM1_chr3_52540367_52690913 | 52676114 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 300 | 0.0033 | 22 | c.236 others(39): Show |
PBRM1 | ENSG00000163939.19 | transcript | ENST00000707071.1 | protein_coding | 3/31 | chr3 | TogoVar | |||||||
PBX1_chr1_164554184_164856831 | 164562452 | T | TACACACA others(15): Show |
intron_variant | MODIFIER | HG01192.hp2 NA19085.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0010 | a0002c0002t0001g0042 a0002c0002t0010g0066 |
2 | 184 | 0.0109 | 22 | c.192 others(37): Show |
PBX1 | ENSG00000185630.20 | transcript | ENST00000420696.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PBX1_chr1_164554184_164856831 | 164707418 | T | TGAGAGAG others(15): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0177 | 1 | 184 | 0.0054 | 22 | c.266 others(41): Show |
PBX1 | ENSG00000185630.20 | transcript | ENST00000420696.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PBX1_chr1_164554184_164856831 | 164707418 | T | TGTGAGAG others(15): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0033 | a0001c0001t0001g0081 a0001c0001t0033g0041 |
2 | 184 | 0.0109 | 22 | c.266 others(41): Show |
PBX1 | ENSG00000185630.20 | transcript | ENST00000420696.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PBX1_chr1_164554184_164856831 | 164707418 | T | TGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0052 | 1 | 184 | 0.0054 | 22 | c.266 others(41): Show |
PBX1 | ENSG00000185630.20 | transcript | ENST00000420696.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PBX1_chr1_164554184_164856831 | 164707418 | T | TGTGTGTG others(15): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0178 | 1 | 184 | 0.0054 | 22 | c.266 others(41): Show |
PBX1 | ENSG00000185630.20 | transcript | ENST00000420696.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PBX1_chr1_164554184_164856831 | 164716685 | T | TACACACA others(15): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01261.hp2 HG02615.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0026a0002c0002t0002 | a0001c0001t0002g0055 a0001c0001t0026g0050 a0002c0002t0002g0003 |
3 | 184 | 0.0163 | 22 | c.266 others(41): Show |
PBX1 | ENSG00000185630.20 | transcript | ENST00000420696.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PBX1_chr1_164554184_164856831 | 164773241 | G | GCACACAC others(15): Show |
intron_variant | MODIFIER | HG03098.hp1 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0033 | a0001c0001t0007g0020 a0001c0001t0033g0041 |
2 | 184 | 0.0109 | 22 | c.266 others(41): Show |
PBX1 | ENSG00000185630.20 | transcript | ENST00000420696.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PBX1_chr1_164554184_164856831 | 164773243 | G | GCACACAC others(15): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0011 | 1 | 184 | 0.0054 | 22 | c.266 others(41): Show |
PBX1 | ENSG00000185630.20 | transcript | ENST00000420696.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PBX1_chr1_164554184_164856831 | 164834029 | A | ATGTGTGT others(15): Show |
intron_variant | MODIFIER | HG02145.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0015 a0001c0001t0005g0059 |
2 | 184 | 0.0109 | 22 | c.120 others(43): Show |
PBX1 | ENSG00000185630.20 | transcript | ENST00000420696.7 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PBX3_chr9_125742373_125972377 | 125793366 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0266 | 1 | 294 | 0.0034 | 22 | c.274 others(41): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PCBD2_chr5_134900131_134967644 | 134962072 | T | TTGTGTGT others(15): Show |
3_prime_UTR_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0298 | 1 | 330 | 0.0030 | 22 | c.*14 others(33): Show |
PCBD2 | ENSG00000132570.15 | transcript | ENST00000254908.11 | protein_coding | 4/4 | 1427 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCBP3_chr21_45638725_45947450 | 45646053 | T | TTCTCTCT others(15): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0226 | 1 | 292 | 0.0034 | 22 | c.-27 others(41): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45646091 | C | CTCTCTCT others(15): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0286 | 1 | 292 | 0.0034 | 22 | c.-27 others(41): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45728899 | T | TCACTTAA others(15): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 292 | 0.0034 | 22 | c.-19 others(41): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45815330 | A | ATGAGTGA others(15): Show |
intron_variant | MODIFIER | HG01928.hp2 HG01943.hp1 HG02027.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0021 | a0001c0001t0003g0008 a0001c0001t0003g0032 a0001c0001t0003g0037 others(8): Show |
11 | 292 | 0.0377 | 22 | c.-12 others(43): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45815630 | G | GGTGAGTG others(15): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(199): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 others(199): Show |
202 | 292 | 0.6918 | 22 | c.-12 others(43): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45849867 | T | TGTTGAAG others(15): Show |
intron_variant | MODIFIER | HG03453.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0209 a0001c0001t0002g0220 |
2 | 292 | 0.0069 | 22 | c.-12 others(37): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCCA_chr13_100084093_100535435 | 100341957 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | HG01109.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0146 |
2 | 174 | 0.0115 | 22 | c.164 others(41): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 18/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |