regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PADI2_chr1_17061761_17124451 | 17109622 | TTGGGACT others(25): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG02109.hp2 HG02257.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0002a0001c0001t0006a0001c0001t0016others(2): Show | a0001c0001t0002g0015a0001c0001t0002g0016a0001c0001t0002g0018others(4): Show | 7 | 356 | 0.0197 | -32 | c.93- others(47): Show |
PADI2 | ENSG00000117115.13 | transcript | ENST00000375486.9 | protein_coding | 1/15 | chr1 | TogoVar | ||||||
PAEP_chr9_135556756_135571955 | 135557978 | TGGTCCCT others(25): Show |
T | upstream_gene_variant | MODIFIER | NA19084.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0050 | 1 | 464 | 0.0022 | -32 | c.-38 others(43): Show |
PAEP | ENSG00000122133.17 | transcript | ENST00000479141.6 | protein_coding | 3777 | chr9 | TogoVar | ||||||
PAFAH1B1_chr17_2588654_2690615 | 2679478 | TTGGATGG others(25): Show |
T | intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0044 | 1 | 280 | 0.0036 | -32 | c.100 others(49): Show |
PAFAH1B1 | ENSG00000007168.14 | transcript | ENST00000397195.10 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PAFAH1B1_chr17_2588654_2690615 | 2679502 | TTGGATGG others(25): Show |
T | intron_variant | MODIFIER | NA19030.hp1 NA21309.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0017a0001c0004t0036 | a0001c0001t0017g0010a0001c0004t0036g0205 | 2 | 280 | 0.0071 | -32 | c.100 others(49): Show |
PAFAH1B1 | ENSG00000007168.14 | transcript | ENST00000397195.10 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PAFAH1B2_chr11_117139287_117176045 | 117172374 | ATATATAT others(25): Show |
A | downstream_gene_variant | MODIFIER | NA18962.hp2 NA18981.hp2 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032a0001c0001t0001g0197a0001c0001t0001g0198 | 3 | 432 | 0.0069 | -32 | c.*46 others(43): Show |
PAFAH1B2 | ENSG00000168092.14 | transcript | ENST00000527958.6 | protein_coding | 1330 | chr11 | TogoVar | ||||||
PAFAH1B2_chr11_117139287_117176045 | 117172376 | ATATATAT others(25): Show |
A | downstream_gene_variant | MODIFIER | HG03834.hp1 NA18984.hp1 NA18994.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0018a0001c0001t0001g0153a0001c0001t0001g0165others(2): Show | 5 | 432 | 0.0116 | -32 | c.*46 others(43): Show |
PAFAH1B2 | ENSG00000168092.14 | transcript | ENST00000527958.6 | protein_coding | 1332 | chr11 | TogoVar | ||||||
PAFAH1B2_chr11_117139287_117176045 | 117172378 | ATATATAT others(25): Show |
A | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00558.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(4): Show | a0001c0001t0001g0013a0001c0001t0001g0018a0001c0001t0001g0118others(13): Show | 18 | 432 | 0.0417 | -32 | c.*46 others(43): Show |
PAFAH1B2 | ENSG00000168092.14 | transcript | ENST00000527958.6 | protein_coding | 1334 | chr11 | TogoVar | ||||||
PAFAH1B2_chr11_117139287_117176045 | 117172380 | ATATATAT others(25): Show |
A | downstream_gene_variant | MODIFIER | NA18612.hp2 NA18964.hp1 NA18997.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0053 | a0001c0001t0001g0154a0001c0001t0001g0203a0001c0001t0004g0011others(1): Show | 4 | 432 | 0.0093 | -32 | c.*46 others(43): Show |
PAFAH1B2 | ENSG00000168092.14 | transcript | ENST00000527958.6 | protein_coding | 1336 | chr11 | TogoVar | ||||||
PALD1_chr10_70473767_70573450 | 70488873 | TCTGCTGC others(25): Show |
T | intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0004 | a0001c0004t0014 | a0001c0004t0014g0196 | 1 | 308 | 0.0033 | -32 | c.-30 others(49): Show |
PALD1 | ENSG00000107719.10 | transcript | ENST00000263563.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PALM2AKAP2_chr9_109775198_110177512 | 110035502 | TGATATGT others(25): Show |
T | intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 222 | 0.0045 | -32 | c.582 others(51): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PALM2AKAP2_chr9_109775198_110177512 | 110035573 | TTGTGTTA others(25): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG00733.hp2 HG00738.hp1 others(130): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0006a0001c0007others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(38): Show | a0001c0001t0001g0005a0001c0001t0001g0023a0001c0001t0001g0031others(130): Show | 133 | 222 | 0.5991 | -32 | c.582 others(51): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PALM2AKAP2_chr9_109775198_110177512 | 110035788 | GGATATGT others(25): Show |
G | intron_variant | MODIFIER | HG01261.hp2 HG03486.hp1 |
a0001a0006 | a0001c0001a0006c0009 | a0001c0001t0008a0006c0009t0014 | a0001c0001t0008g0049a0006c0009t0014g0217 | 2 | 222 | 0.0090 | -32 | c.582 others(51): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PALMD_chr1_99641113_99699535 | 99683076 | GAGAGAGA others(25): Show |
G | intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 380 | 0.0026 | -32 | c.252 others(49): Show |
PALMD | ENSG00000099260.12 | transcript | ENST00000263174.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PALS2_chr7_24568452_24699193 | 24581244 | CGTGTGTG others(25): Show |
C | intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0288 | 1 | 378 | 0.0027 | -32 | c.-3+ others(47): Show |
PALS2 | ENSG00000105926.16 | transcript | ENST00000222644.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
PAM_chr5_102750305_103034716 | 102803142 | AAAGAAAG others(25): Show |
A | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 188 | 0.0053 | -32 | c.-37 others(53): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PAM_chr5_102750305_103034716 | 102803177 | GGAAGGAA others(25): Show |
G | intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0131 | 1 | 188 | 0.0053 | -32 | c.-37 others(53): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PAM_chr5_102750305_103034716 | 102882052 | AATATATA others(25): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp2 HG01106.hp2 others(7): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0002t0004others(2): Show | a0001c0001t0002g0092a0001c0001t0003g0146a0001c0001t0003g0147others(7): Show | 10 | 188 | 0.0532 | -32 | c.210 others(51): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 3/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PAPLN_chr14_73232506_73279623 | 73258720 | CTACTGCA others(25): Show |
C | intron_variant | MODIFIER | NA18974.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0211 | 1 | 418 | 0.0024 | -32 | c.162 others(49): Show |
PAPLN | ENSG00000100767.17 | transcript | ENST00000644200.2 | protein_coding | 14/26 | chr14 | TogoVar | ||||||
PAPSS2_chr10_87654878_87752705 | 87701307 | CCTTCCTT others(25): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0313a0001c0001t0026g0314 | 2 | 372 | 0.0054 | -32 | c.28- others(47): Show |
PAPSS2 | ENSG00000198682.13 | transcript | ENST00000456849.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PAPSS2_chr10_87654878_87752705 | 87701319 | CCTTCCTT others(25): Show |
C | intron_variant | MODIFIER | NA18988.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0102 | 1 | 372 | 0.0027 | -32 | c.28- others(47): Show |
PAPSS2 | ENSG00000198682.13 | transcript | ENST00000456849.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PAPSS2_chr10_87654878_87752705 | 87740263 | TTGATGAG others(25): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00609.hp2 others(74): Show |
a0001a0006a0008 | a0001c0001a0006c0009a0008c0008 | a0001c0001t0003a0001c0001t0008a0001c0001t0010others(10): Show | a0001c0001t0003g0022a0001c0001t0003g0024a0001c0001t0003g0036others(74): Show | 77 | 372 | 0.2070 | -32 | c.108 others(49): Show |
PAPSS2 | ENSG00000198682.13 | transcript | ENST00000456849.2 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PAQR5_chr15_69293912_69412780 | 69300841 | TTTTCTTT others(25): Show |
T | intron_variant | MODIFIER | HG01255.hp2 HG02258.hp2 HG02818.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003 | a0001c0001t0001g0042a0001c0001t0001g0238a0001c0001t0001g0249others(1): Show | 4 | 284 | 0.0141 | -32 | c.-27 others(51): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PAQR5_chr15_69293912_69412780 | 69300937 | CTCTTTCT others(25): Show |
C | intron_variant | MODIFIER | HG03098.hp1 NA18906.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0003 | a0001c0001t0003g0250a0001c0003t0003g0248 | 2 | 284 | 0.0070 | -32 | c.-27 others(51): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PAQR5_chr15_69293912_69412780 | 69355312 | CTTTCTTT others(25): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00544.hp1 others(26): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0054a0001c0001t0001g0057a0001c0001t0001g0073others(26): Show | 29 | 284 | 0.1021 | -32 | c.-11 others(51): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PAQR5_chr15_69293912_69412780 | 69382777 | CATATATA others(25): Show |
C | intron_variant | MODIFIER | HG03098.hp1 HG03453.hp2 |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0020 | a0001c0003t0003g0248a0001c0003t0020g0132 | 2 | 284 | 0.0070 | -32 | c.180 others(49): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PAQR9_chr3_142949585_142968674 | 142965191 | ATTTACTT others(25): Show |
A | upstream_gene_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0000 | 1 | 446 | 0.0022 | -32 | c.-18 others(43): Show |
PAQR9 | ENSG00000188582.10 | transcript | ENST00000340634.6 | protein_coding | 1518 | chr3 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 204553665 | TATATATA others(25): Show |
T | intron_variant | MODIFIER | HG01884.hp2 | a0003 | a0003c0005 | a0003c0005t0005 | a0003c0005t0005g0045 | 1 | 54 | 0.0185 | -32 | c.120 others(49): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PARD3B_chr2_204540475_205625162 | 204883405 | TTATATAT others(25): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02965.hp1 HG02965.hp2 |
a0001a0010 | a0001c0008a0001c0016a0010c0027 | a0001c0008t0004a0001c0016t0002a0010c0027t0015 | a0001c0008t0004g0028a0001c0016t0002g0037a0010c0027t0015g0003 | 3 | 54 | 0.0556 | -32 | c.223 others(51): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PARD3B_chr2_204540475_205625162 | 204998330 | ATATATAT others(25): Show |
A | intron_variant | MODIFIER | HG02965.hp1 HG03195.hp2 |
a0004a0010 | a0004c0012a0010c0027 | a0004c0012t0003a0010c0027t0015 | a0004c0012t0003g0004a0010c0027t0015g0003 | 2 | 54 | 0.0370 | -32 | c.394 others(51): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PARD3B_chr2_204540475_205625162 | 205036339 | ATATATGT others(25): Show |
A | intron_variant | MODIFIER | NA19240.hp1 | a0004 | a0004c0026 | a0004c0026t0004 | a0004c0026t0004g0041 | 1 | 54 | 0.0185 | -32 | c.395 others(51): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 3/22 | chr2 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 205493713 | CATTTATG others(25): Show |
C | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0006 | a0001c0006t0007 | a0001c0006t0007g0013 | 1 | 54 | 0.0185 | -32 | c.304 others(51): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PARD3_chr10_34104561_34820296 | 34605824 | ATATATAT others(25): Show |
A | intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0042 | 1 | 100 | 0.0100 | -32 | c.223 others(51): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 2/24 | chr10 | TogoVar | ||||||
PARD6G_chr18_80152232_80252514 | 80208023 | GGTATCAA others(25): Show |
G | intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0191 | 1 | 382 | 0.0026 | -32 | c.73- others(47): Show |
PARD6G | ENSG00000178184.16 | transcript | ENST00000353265.8 | protein_coding | 1/2 | chr18 | TogoVar | ||||||
PARN_chr16_14430701_14635260 | 14435896 | TCACACAC others(25): Show |
T | 3_prime_UTR_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0110 | 1 | 169 | 0.0059 | -32 | c.*78 others(41): Show |
PARN | ENSG00000140694.18 | transcript | ENST00000437198.7 | protein_coding | 24/24 | 789 | chr16 | TogoVar | |||||
PARP9_chr3_122522924_122569300 | 122539507 | ATTTCTTT others(25): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(220): Show |
a0001a0003a0006others(2): Show | a0001c0002a0001c0003a0003c0004others(3): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0002others(7): Show | a0001c0002t0001g0004a0001c0002t0001g0009a0001c0002t0001g0010others(184): Show | 223 | 436 | 0.5115 | -32 | c.176 others(49): Show |
PARP9 | ENSG00000138496.17 | transcript | ENST00000682323.1 | protein_coding | 8/10 | chr3 | TogoVar | ||||||
PARVB_chr22_44019302_44177939 | 44122524 | GAGACAGA others(25): Show |
G | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0002 | a0001c0002t0019 | a0001c0002t0019g0111 | 1 | 332 | 0.0030 | -32 | c.376 others(49): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PARVB_chr22_44019302_44177939 | 44162347 | AGTGTTGC others(25): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp2 HG00544.hp1 others(52): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(30): Show | a0001c0001t0001g0070a0001c0001t0001g0096a0001c0001t0001g0199others(52): Show | 55 | 332 | 0.1657 | -32 | c.946 others(49): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PASD1_chrX_151558675_151681739 | 151653747 | CTTCCTTC others(25): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG01169.hp1 HG01433.hp1 others(4): Show |
a0001a0002 | a0001c0024a0002c0004a0002c0008others(2): Show | a0001c0024t0001a0002c0004t0003a0002c0008t0002others(2): Show | a0001c0024t0001g0051a0002c0004t0003g0026a0002c0004t0003g0120others(4): Show | 7 | 221 | 0.0317 | -32 | c.717 others(49): Show |
PASD1 | ENSG00000166049.11 | transcript | ENST00000370357.5 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PASK_chr2_241101099_241154472 | 241108646 | CCACGGGA others(25): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02622.hp2 HG02630.hp1 others(2): Show |
a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0027a0007c0010t0001g0319a0007c0010t0001g0320others(1): Show | 5 | 376 | 0.0133 | -32 | c.353 others(49): Show |
PASK | ENSG00000115687.14 | transcript | ENST00000234040.9 | protein_coding | 15/17 | chr2 | TogoVar | ||||||
PATE4_chr11_125828316_125845072 | 125843547 | ACATTATT others(25): Show |
A | downstream_gene_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 424 | 0.0024 | -32 | c.*51 others(43): Show |
PATE4 | ENSG00000237353.7 | transcript | ENST00000457514.3 | protein_coding | 3476 | chr11 | TogoVar | ||||||
PATJ_chr1_61737480_62168915 | 61796658 | TTTTCTTT others(25): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00639.hp2 others(29): Show |
a0006a0007a0008others(13): Show | a0006c0014a0006c0068a0006c0113others(24): Show | a0006c0014t0004a0006c0068t0011a0006c0113t0003others(26): Show | a0006c0014t0004g0053a0006c0014t0004g0148a0006c0068t0011g0097others(29): Show | 32 | 158 | 0.2025 | -32 | c.126 others(49): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 10/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PATJ_chr1_61737480_62168915 | 61813352 | TATATATA others(25): Show |
T | intron_variant | MODIFIER | HG01884.hp2 NA19030.hp2 |
a0013a0017 | a0013c0004a0017c0033 | a0013c0004t0001a0017c0033t0006 | a0013c0004t0001g0115a0017c0033t0006g0120 | 2 | 158 | 0.0127 | -32 | c.168 others(51): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 14/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PAWR_chr12_79579879_79695964 | 79613963 | ATATATAT others(25): Show |
A | intron_variant | MODIFIER | HG02451.hp2 | a0003 | a0003c0004 | a0003c0004t0022 | a0003c0004t0022g0166 | 1 | 256 | 0.0039 | -32 | c.649 others(47): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 3/6 | chr12 | TogoVar | ||||||
PAWR_chr12_79579879_79695964 | 79613965 | ATATATAT others(25): Show |
A | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0038 | 1 | 256 | 0.0039 | -32 | c.649 others(47): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 3/6 | chr12 | TogoVar | ||||||
PAWR_chr12_79579879_79695964 | 79632296 | CATATATA others(25): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02602.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0016 | a0001c0001t0002g0049a0001c0001t0016g0012 | 2 | 256 | 0.0078 | -32 | c.517 others(51): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 2/6 | chr12 | TogoVar | ||||||
PAX4_chr7_127605292_127623142 | 127612371 | GTGCATGG others(25): Show |
G | intron_variant | MODIFIER | NA18992.hp1 NA19000.hp2 NA19002.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0022 | 4 | 428 | 0.0094 | -32 | c.716 others(47): Show |
PAX4 | ENSG00000106331.19 | transcript | ENST00000639438.3 | protein_coding | 9/11 | chr7 | TogoVar | ||||||
PAX9_chr14_36656860_36684362 | 36662128 | AAGGGAGG others(25): Show |
A | intron_variant | MODIFIER | HG02257.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0015 | a0001c0001t0004g0296a0001c0001t0015g0295 | 2 | 446 | 0.0045 | -32 | c.4+5 others(41): Show |
PAX9 | ENSG00000198807.13 | transcript | ENST00000361487.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PAXBP1_chr21_32728899_32776755 | 32771917 | AGAGAGAG others(25): Show |
A | upstream_gene_variant | MODIFIER | HG06807.hp1 NA19002.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129a0001c0001t0001g0139 | 2 | 360 | 0.0056 | -32 | c.-28 others(41): Show |
PAXBP1 | ENSG00000159086.15 | transcript | ENST00000331923.9 | protein_coding | 163 | chr21 | TogoVar | ||||||
PAXBP1_chr21_32728899_32776755 | 32771941 | AGAGAGAG others(25): Show |
A | upstream_gene_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 360 | 0.0028 | -32 | c.-30 others(41): Show |
PAXBP1 | ENSG00000159086.15 | transcript | ENST00000331923.9 | protein_coding | 187 | chr21 | TogoVar | ||||||
PBX3_chr9_125742373_125972377 | 125899249 | GTATATAT others(25): Show |
G | intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0101 | 1 | 294 | 0.0034 | -32 | c.275 others(51): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |