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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PARD3B_chr2_204540475_205625162 | 205248380 | T | TTGGTGGT others(23): Show |
intron_variant | MODIFIER | HG03139.hp2 HG03453.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0013 | a0002c0002t0001g0027 a0002c0002t0013g0022 |
2 | 41 | 0.0488 | 30 | c.218 others(49): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 205248414 | T | TGGTGGTG others(23): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0031 | 1 | 52 | 0.0192 | 30 | c.218 others(49): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 205380916 | A | ATATATTA others(23): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02976.hp2 HG03041.hp2 others(2): Show |
a0002a0003a0004 | a0002c0002a0002c0004a0003c0010others(1): Show | a0002c0002t0001a0002c0002t0004a0002c0004t0021others(2): Show | a0002c0002t0001g0008 a0002c0002t0004g0029 a0002c0004t0021g0051 others(2): Show |
5 | 38 | 0.1316 | 30 | c.263 others(51): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3_chr10_34104561_34820296 | 34129700 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0003 | a0003c0008 | a0003c0008t0013 | a0003c0008t0013g0095 | 1 | 63 | 0.0159 | 30 | c.354 others(49): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 23/24 | chr10 | TogoVar | |||||||
PARD3_chr10_34104561_34820296 | 34227881 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02970.hp2 |
a0001 | a0001c0002a0001c0010 | a0001c0002t0007a0001c0010t0002 | a0001c0002t0007g0017 a0001c0010t0002g0026 |
2 | 93 | 0.0215 | 30 | c.341 others(51): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 22/24 | chr10 | TogoVar | |||||||
PARD3_chr10_34104561_34820296 | 34605675 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016 | 1 | 87 | 0.0115 | 30 | c.223 others(49): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 2/24 | chr10 | TogoVar | |||||||
PARD3_chr10_34104561_34820296 | 34666796 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 63 | 0.0159 | 30 | c.222 others(49): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 2/24 | chr10 | TogoVar | |||||||
PARD6B_chr20_50726580_50758741 | 50750954 | A | ATTTTTTT others(23): Show |
3_prime_UTR_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0077 | a0001c0001t0077g0032 | 1 | 40 | 0.0250 | 30 | c.*46 others(39): Show |
PARD6B | ENSG00000124171.9 | transcript | ENST00000371610.7 | protein_coding | 3/3 | 499 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PARD6B_chr20_50726580_50758741 | 50750976 | T | TTTTTTTT others(23): Show |
3_prime_UTR_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0076 | a0001c0001t0076g0001 | 1 | 362 | 0.0028 | 30 | c.*49 others(39): Show |
PARD6B | ENSG00000124171.9 | transcript | ENST00000371610.7 | protein_coding | 3/3 | 499 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PARD6G_chr18_80152232_80252514 | 80195548 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01346.hp1 HG02132.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0263 a0001c0002t0001g0266 a0001c0002t0001g0268 others(2): Show |
5 | 186 | 0.0269 | 30 | c.295 others(47): Show |
PARD6G | ENSG00000178184.16 | transcript | ENST00000353265.8 | protein_coding | 2/2 | chr18 | TogoVar | |||||||
PARL_chr3_183824271_183889880 | 183882249 | A | ATATTTAT others(23): Show |
intron_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0270 | 1 | 281 | 0.0036 | 30 | c.125 others(47): Show |
PARL | ENSG00000175193.14 | transcript | ENST00000317096.9 | protein_coding | 1/9 | chr3 | TogoVar | |||||||
PARN_chr16_14430701_14635260 | 14501435 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02027.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0074 a0001c0001t0005g0140 |
2 | 8 | 0.2500 | 30 | c.148 others(51): Show |
PARN | ENSG00000140694.18 | transcript | ENST00000437198.7 | protein_coding | 21/23 | chr16 | TogoVar | |||||||
PARP11_chr12_3803861_3878399 | 3878177 | T | TCCTGTTA others(23): Show |
upstream_gene_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0006 | 1 | 414 | 0.0024 | 30 | c.-49 others(41): Show |
PARP11 | ENSG00000111224.14 | transcript | ENST00000228820.9 | protein_coding | 4779 | chr12 | TogoVar | |||||||
PARP14_chr3_122675839_122735840 | 122677565 | A | AAAAAATA others(23): Show |
upstream_gene_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0321 | 1 | 213 | 0.0047 | 30 | c.-33 others(41): Show |
PARP14 | ENSG00000173193.15 | transcript | ENST00000474629.7 | protein_coding | 3273 | chr3 | TogoVar | |||||||
PARP15_chr3_122572650_122644047 | 122601036 | G | GTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0152 | 1 | 209 | 0.0048 | 30 | c.187 others(47): 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(23): Show |
intron_variant | MODIFIER | NA18940.hp1 NA18942.hp2 NA18959.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0059 others(4): Show |
7 | 83 | 0.0843 | 30 | c.175 others(47): Show |
PARP16 | ENSG00000138617.16 | transcript | ENST00000649807.2 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
PARP16_chr15_65253099_65291883 | 65290933 | A | AATATATA others(23): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 56 | 0.0179 | 30 | c.-45 others(41): Show |
PARP16 | ENSG00000138617.16 | transcript | ENST00000649807.2 | protein_coding | 4051 | chr15 | TogoVar | |||||||
PARP2_chr14_20338635_20362904 | 20347398 | A | ATATATTT others(23): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0015 | 1 | 257 | 0.0039 | 30 | c.324 others(45): Show |
PARP2 | ENSG00000129484.14 | transcript | ENST00000429687.8 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PARP4_chr13_24415931_24517778 | 24455480 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0015 | a0015c0020 | a0015c0020t0001 | a0015c0020t0001g0095 | 1 | 172 | 0.0058 | 30 | c.256 others(47): Show |
PARP4 | ENSG00000102699.6 | transcript | ENST00000381989.4 | protein_coding | 21/33 | chr13 | TogoVar | |||||||
PARP8_chr5_50661637_50851519 | 50754116 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG02300.hp1 NA18978.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0266 a0001c0003t0001g0216 |
2 | 158 | 0.0127 | 30 | c.184 others(47): Show |
PARP8 | ENSG00000151883.20 | transcript | ENST00000281631.10 | protein_coding | 3/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PARVB_chr22_44019302_44177939 | 44066780 | T | TCTTCTCC others(23): Show |
intron_variant | MODIFIER | HG01346.hp2 HG02572.hp1 HG02738.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009 | a0001c0001t0001g0111 a0001c0001t0002g0198 a0001c0001t0009g0120 |
3 | 63 | 0.0476 | 30 | c.113 others(49): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PARVB_chr22_44019302_44177939 | 44066780 | T | TCTTCTCC others(23): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008 | a0001c0001t0003g0148 a0001c0001t0008g0193 |
2 | 62 | 0.0323 | 30 | c.113 others(49): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PARVB_chr22_44019302_44177939 | 44066783 | C | CCTCCTCC others(23): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03453.hp1 |
a0001 | a0001c0007a0001c0016 | a0001c0007t0016a0001c0016t0028 | a0001c0007t0016g0207 a0001c0016t0028g0085 |
2 | 330 | 0.0061 | 30 | c.113 others(49): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PARVB_chr22_44019302_44177939 | 44066789 | C | CCTCCTCC others(23): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0130 | 1 | 330 | 0.0030 | 30 | c.113 others(49): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PARVB_chr22_44019302_44177939 | 44066801 | C | CCTCCTCC others(23): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01099.hp2 HG01261.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0005a0002c0003t0004others(1): Show | a0001c0001t0001g0275 a0001c0001t0001g0283 a0001c0002t0005g0176 others(2): Show |
5 | 310 | 0.0161 | 30 | c.113 others(49): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PARVB_chr22_44019302_44177939 | 44140024 | G | GCTTTCTG others(23): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0012 | a0001c0012t0035 | a0001c0012t0035g0122 | 1 | 68 | 0.0147 | 30 | c.693 others(43): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PASD1_chrX_151558675_151681739 | 151562911 | G | GGCCGGGG others(23): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 HG02280.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003 | a0001c0002t0002g0031 a0001c0002t0003g0152 |
2 | 218 | 0.0092 | 30 | c.-95 others(39): Show |
PASD1 | ENSG00000166049.11 | transcript | ENST00000370357.5 | protein_coding | 763 | chrX | TogoVar | |||||||
PASD1_chrX_151558675_151681739 | 151653868 | C | CTCCCTCC others(23): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 83 | 0.0120 | 30 | c.717 others(47): Show |
PASD1 | ENSG00000166049.11 | transcript | ENST00000370357.5 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PASK_chr2_241101099_241154472 | 241120492 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG01346.hp2 NA18986.hp1 NA19056.hp2 |
a0004a0005 | a0004c0004a0004c0018a0005c0013 | a0004c0004t0001a0004c0018t0002a0005c0013t0002 | a0004c0004t0001g0202 a0004c0018t0002g0076 a0005c0013t0002g0090 |
3 | 338 | 0.0089 | 30 | c.307 others(49): Show |
PASK | ENSG00000115687.14 | transcript | ENST00000234040.9 | protein_coding | 12/17 | chr2 | TogoVar | |||||||
PATJ_chr1_61737480_62168915 | 61799040 | T | TAAATTGG others(23): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0020 | a0020c0127 | a0020c0127t0006 | a0020c0127t0006g0031 | 1 | 156 | 0.0064 | 30 | c.140 others(49): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 11/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PATJ_chr1_61737480_62168915 | 61812433 | A | AGAGAGAG others(23): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01081.hp1 HG01123.hp1 |
a0028a0031a0033 | a0028c0075a0031c0131a0033c0132 | a0028c0075t0001a0031c0131t0001a0033c0132t0001 | a0028c0075t0001g0047 a0031c0131t0001g0043 a0033c0132t0001g0070 |
3 | 75 | 0.0400 | 30 | c.168 others(49): 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(23): Show |
intron_variant | MODIFIER | HG01433.hp2 HG01978.hp1 HG01978.hp2 |
a0002a0007a0011 | a0002c0106a0007c0013a0011c0084 | a0002c0106t0001a0007c0013t0014a0011c0084t0003 | a0002c0106t0001g0060 a0007c0013t0014g0156 a0011c0084t0003g0088 |
3 | 44 | 0.0682 | 30 | c.367 others(51): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 27/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PATJ_chr1_61737480_62168915 | 62086228 | A | ATGTGTGT others(23): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02280.hp2 HG02965.hp1 others(7): Show |
a0001a0002a0005others(4): Show | a0001c0001a0002c0012a0002c0020others(6): Show | a0001c0001t0004a0002c0012t0004a0002c0020t0019others(6): Show | a0001c0001t0004g0015 a0002c0012t0004g0122 a0002c0012t0004g0150 others(7): Show |
10 | 101 | 0.0990 | 30 | c.437 others(49): 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(23): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0009 | a0009c0052 | a0009c0052t0001 | a0009c0052t0001g0046 | 1 | 112 | 0.0089 | 30 | c.437 others(49): 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(23): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0059 | a0001c0059t0005 | a0001c0059t0005g0098 | 1 | 55 | 0.0182 | 30 | c.437 others(49): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 33/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PAWR_chr12_79579879_79695964 | 79639833 | C | CATTCCTA others(23): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0182 | 1 | 100 | 0.0100 | 30 | c.517 others(49): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 2/6 | chr12 | TogoVar | |||||||
PAWR_chr12_79579879_79695964 | 79639881 | T | TATTCCTA others(23): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0002 | a0002c0002 | a0002c0002t0015 | a0002c0002t0015g0176 | 1 | 153 | 0.0065 | 30 | c.517 others(49): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 2/6 | chr12 | TogoVar | |||||||
PAX3_chr2_222194887_222303998 | 222244734 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0320 | 1 | 197 | 0.0051 | 30 | c.587 others(49): Show |
PAX3 | ENSG00000135903.20 | transcript | ENST00000392070.7 | protein_coding | 4/8 | chr2 | TogoVar | |||||||
PAX5_chr9_36828269_37039268 | 36973083 | C | CGGAACGG others(23): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0259 | 1 | 216 | 0.0046 | 30 | c.605 others(47): Show |
PAX5 | ENSG00000196092.14 | transcript | ENST00000358127.9 | protein_coding | 5/9 | chr9 | TogoVar | |||||||
PAX6_chr11_31784026_31816322 | 31814990 | G | GTCTCTCT others(23): Show |
upstream_gene_variant | MODIFIER | HG03130.hp2 NA18990.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0066 a0001c0001t0003g0021 |
2 | 77 | 0.0260 | 30 | c.-42 others(41): Show |
PAX6 | ENSG00000007372.25 | transcript | ENST00000640368.2 | protein_coding | 3669 | chr11 | TogoVar | |||||||
PBK_chr8_27804624_27842817 | 27816343 | C | CTATATAT others(23): Show |
intron_variant | MODIFIER | HG02293.hp2 HG03098.hp1 HG03490.hp1 others(1): Show |
a0002a0003 | a0002c0002a0003c0004 | a0002c0002t0002a0003c0004t0002 | a0002c0002t0002g0076 a0002c0002t0002g0081 a0003c0004t0002g0138 others(1): Show |
4 | 281 | 0.0142 | 30 | c.595 others(47): Show |
PBK | ENSG00000168078.10 | transcript | ENST00000301905.9 | protein_coding | 6/7 | chr8 | TogoVar | |||||||
PBRM1_chr3_52540367_52690913 | 52636757 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0127 | 1 | 109 | 0.0092 | 30 | c.108 others(49): Show |
PBRM1 | ENSG00000163939.19 | transcript | ENST00000707071.1 | protein_coding | 11/31 | chr3 | TogoVar | |||||||
PBX1_chr1_164554184_164856831 | 164773243 | G | GCACACAC others(23): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01106.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 a0001c0001t0001g0101 |
2 | 35 | 0.0571 | 30 | c.266 others(49): Show |
PBX1 | ENSG00000185630.20 | transcript | ENST00000420696.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PBX3_chr9_125742373_125972377 | 125793366 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 121 | 0.0083 | 30 | c.274 others(49): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PBX3_chr9_125742373_125972377 | 125899203 | T | TTATAAAT others(23): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00609.hp2 HG01346.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 a0001c0001t0001g0191 a0001c0001t0001g0213 others(5): Show |
8 | 171 | 0.0468 | 30 | c.275 others(49): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45646089 | C | CTCTCTCT others(23): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0229 | 1 | 285 | 0.0035 | 30 | c.-27 others(49): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45892471 | G | GGGGGGCG others(23): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0019 | 1 | 290 | 0.0034 | 30 | c.11- others(45): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45909762 | A | ACCCCCCC others(23): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0141 | 1 | 266 | 0.0038 | 30 | c.471 others(45): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45909941 | C | CCACTTCC others(23): Show |
intron_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0271 | 1 | 229 | 0.0044 | 30 | c.471 others(45): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45909958 | A | ACCCCCCC others(23): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0239 | 1 | 288 | 0.0035 | 30 | c.471 others(45): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar |