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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PARD3_chr10_34104561_34820296 | 34519820 | AATAACAT others(8): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02145.hp1 HG02809.hp2 others(2): Show |
a0001a0003a0006 | a0001c0002a0003c0008a0006c0009 | a0001c0002t0003a0001c0002t0004a0003c0008t0013others(1): Show | a0001c0002t0003g0071a0001c0002t0004g0029a0001c0002t0004g0033others(2): Show | 5 | 100 | 0.0500 | -15 | c.223 others(32): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 2/24 | chr10 | TogoVar | ||||||
PARD3_chr10_34104561_34820296 | 34605626 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0025 | 1 | 100 | 0.0100 | -15 | c.223 others(34): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 2/24 | chr10 | TogoVar | ||||||
PARD3_chr10_34104561_34820296 | 34605841 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0098 | 1 | 100 | 0.0100 | -15 | c.223 others(34): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 2/24 | chr10 | TogoVar | ||||||
PARD3_chr10_34104561_34820296 | 34651011 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02723.hp2 HG03471.hp1 |
a0001 | a0001c0002a0001c0011 | a0001c0002t0007a0001c0002t0016a0001c0011t0002 | a0001c0002t0007g0031a0001c0002t0016g0025a0001c0011t0002g0026 | 3 | 100 | 0.0300 | -15 | c.222 others(34): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 2/24 | chr10 | TogoVar | ||||||
PARD3_chr10_34104561_34820296 | 34665840 | AAGAACAG others(8): Show |
A | intron_variant | MODIFIER | HG01167.hp2 HG01243.hp2 HG02145.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0020others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(3): Show | a0001c0001t0001g0058a0001c0001t0003g0055a0001c0001t0012g0054others(3): Show | 6 | 100 | 0.0600 | -15 | c.222 others(34): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 2/24 | chr10 | TogoVar | ||||||
PARD3_chr10_34104561_34820296 | 34666789 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0028 | 1 | 100 | 0.0100 | -15 | c.222 others(34): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 2/24 | chr10 | TogoVar | ||||||
PARD3_chr10_34104561_34820296 | 34681760 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0018 | a0001c0018t0005 | a0001c0018t0005g0093 | 1 | 100 | 0.0100 | -15 | c.222 others(34): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 2/24 | chr10 | TogoVar | ||||||
PARD3_chr10_34104561_34820296 | 34681762 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0019 | 1 | 100 | 0.0100 | -15 | c.222 others(34): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 2/24 | chr10 | TogoVar | ||||||
PARD6B_chr20_50726580_50758741 | 50736826 | GAGTAGTT others(8): Show |
G | intron_variant | MODIFIER | HG02040.hp1 NA18978.hp2 NA18980.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0029a0001c0001t0007g0030a0001c0001t0007g0079 | 5 | 364 | 0.0137 | -15 | c.67- others(30): Show |
PARD6B | ENSG00000124171.9 | transcript | ENST00000371610.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PARD6B_chr20_50726580_50758741 | 50750954 | ATTTTTTT others(8): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02965.hp2 HG03516.hp2 NA19043.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0121a0001c0001t0122a0002c0002t0086 | a0001c0001t0121g0045a0001c0001t0122g0046a0002c0002t0086g0006 | 3 | 364 | 0.0082 | -15 | c.*48 others(24): Show |
PARD6B | ENSG00000124171.9 | transcript | ENST00000371610.7 | protein_coding | 3/3 | 484 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||
PARN_chr16_14430701_14635260 | 14470437 | GATTATTA others(8): Show |
G | intron_variant | MODIFIER | HG00741.hp1 HG01081.hp1 HG01106.hp1 others(19): Show |
a0001a0003 | a0001c0001a0001c0007a0003c0005 | a0001c0001t0003a0001c0001t0007a0001c0001t0010others(2): Show | a0001c0001t0003g0004a0001c0001t0003g0007a0001c0001t0003g0097others(19): Show | 22 | 169 | 0.1302 | -15 | c.167 others(36): Show |
PARN | ENSG00000140694.18 | transcript | ENST00000437198.7 | protein_coding | 22/23 | chr16 | TogoVar | ||||||
PARN_chr16_14430701_14635260 | 14614846 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01106.hp2 HG02615.hp2 HG02886.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003a0001c0002t0004others(1): Show | a0001c0001t0001g0028a0001c0002t0003g0151a0001c0002t0004g0148others(2): Show | 5 | 169 | 0.0296 | -15 | c.388 others(32): Show |
PARN | ENSG00000140694.18 | transcript | ENST00000437198.7 | protein_coding | 6/23 | chr16 | TogoVar | ||||||
PARP10_chr8_143972158_143991460 | 143980319 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG03491.hp1 others(5): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0002a0003c0003t0001 | a0002c0002t0002g0029a0002c0002t0002g0030a0002c0002t0002g0226others(3): Show | 8 | 380 | 0.0211 | -15 | c.255 others(34): Show |
PARP10 | ENSG00000178685.14 | transcript | ENST00000313028.12 | protein_coding | 9/10 | chr8 | TogoVar | ||||||
PARP10_chr8_143972158_143991460 | 143981901 | AGGTGGTG others(8): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00597.hp2 others(104): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0021a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0012others(64): Show | 107 | 380 | 0.2816 | -15 | c.255 others(34): Show |
PARP10 | ENSG00000178685.14 | transcript | ENST00000313028.12 | protein_coding | 9/10 | chr8 | TogoVar | ||||||
PARP11_chr12_3803861_3878399 | 3871975 | GATCCCTC others(8): Show |
G | intron_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0142 | 1 | 416 | 0.0024 | -15 | c.18+ others(30): Show |
PARP11 | ENSG00000111224.14 | transcript | ENST00000228820.9 | protein_coding | 1/7 | chr12 | TogoVar | ||||||
PARP12_chr7_140018749_140067951 | 140035927 | AAGGAGGA others(8): Show |
A | intron_variant | MODIFIER | HG02615.hp1 HG02818.hp1 |
a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0017 | 2 | 360 | 0.0056 | -15 | c.132 others(34): Show |
PARP12 | ENSG00000059378.13 | transcript | ENST00000263549.8 | protein_coding | 7/11 | chr7 | TogoVar | ||||||
PARP12_chr7_140018749_140067951 | 140035987 | GAGGAGGA others(8): Show |
G | intron_variant | MODIFIER | HG01192.hp2 HG03098.hp1 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0003a0001c0008t0002 | a0001c0001t0003g0185a0001c0008t0002g0049 | 2 | 360 | 0.0056 | -15 | c.132 others(34): Show |
PARP12 | ENSG00000059378.13 | transcript | ENST00000263549.8 | protein_coding | 7/11 | chr7 | TogoVar | ||||||
PARP12_chr7_140018749_140067951 | 140035996 | GAGGAGAA others(8): Show |
G | intron_variant | MODIFIER | HG03209.hp1 HG03516.hp1 |
a0002 | a0002c0007 | a0002c0007t0004 | a0002c0007t0004g0287a0002c0007t0004g0289 | 2 | 360 | 0.0056 | -15 | c.132 others(34): Show |
PARP12 | ENSG00000059378.13 | transcript | ENST00000263549.8 | protein_coding | 7/11 | chr7 | TogoVar | ||||||
PARP15_chr3_122572650_122644047 | 122608206 | CTCTTTTC others(8): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG03209.hp1 HG03471.hp2 others(1): Show |
a0007a0009a0020 | a0007c0007a0009c0010a0020c0020 | a0007c0007t0026a0009c0010t0002a0009c0010t0023others(1): Show | a0007c0007t0026g0148a0009c0010t0002g0147a0009c0010t0023g0149others(1): Show | 4 | 356 | 0.0112 | -15 | c.306 others(32): Show |
PARP15 | ENSG00000173200.13 | transcript | ENST00000464300.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PARP15_chr3_122572650_122644047 | 122641834 | TTTTTTTT others(8): Show |
T | downstream_gene_variant | MODIFIER | HG03516.hp1 | a0005 | a0005c0029 | a0005c0029t0009 | a0005c0029t0009g0342 | 1 | 356 | 0.0028 | -15 | c.*57 others(26): Show |
PARP15 | ENSG00000173200.13 | transcript | ENST00000464300.7 | protein_coding | 2788 | chr3 | TogoVar | ||||||
PARP1_chr1_226355691_226413093 | 226392087 | TACGTTGA others(8): Show |
T | intron_variant | MODIFIER | HG00741.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0075 | 1 | 358 | 0.0028 | -15 | c.402 others(29): Show |
PARP1 | ENSG00000143799.14 | transcript | ENST00000366794.10 | protein_coding | 3/22 | chr1 | TogoVar | ||||||
PARP2_chr14_20338635_20362904 | 20347379 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0254 | 1 | 420 | 0.0024 | -15 | c.324 others(30): Show |
PARP2 | ENSG00000129484.14 | transcript | ENST00000429687.8 | protein_coding | 4/15 | chr14 | TogoVar | ||||||
PARP2_chr14_20338635_20362904 | 20347384 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0190 | 1 | 420 | 0.0024 | -15 | c.324 others(30): Show |
PARP2 | ENSG00000129484.14 | transcript | ENST00000429687.8 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PARP4_chr13_24415931_24517778 | 24457782 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG02976.hp1 | a0026 | a0026c0036 | a0026c0036t0001 | a0026c0036t0001g0036 | 1 | 362 | 0.0028 | -15 | c.242 others(34): Show |
PARP4 | ENSG00000102699.6 | transcript | ENST00000381989.4 | protein_coding | 20/33 | chr13 | TogoVar | ||||||
PARP6_chr15_72236181_72277554 | 72255784 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG01891.hp2 others(52): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0039others(13): Show | 55 | 396 | 0.1389 | -15 | c.112 others(32): Show |
PARP6 | ENSG00000137817.17 | transcript | ENST00000569795.6 | protein_coding | 14/23 | chr15 | TogoVar | ||||||
PARP9_chr3_122522924_122569300 | 122562156 | CTCTTTTC others(8): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00558.hp1 others(118): Show |
a0001a0002a0006others(1): Show | a0001c0002a0002c0001a0002c0007others(2): Show | a0001c0002t0001a0002c0001t0001a0002c0001t0005others(3): Show | a0001c0002t0001g0004a0001c0002t0001g0009a0001c0002t0001g0010others(108): Show | 121 | 436 | 0.2775 | -15 | c.-90 others(32): Show |
PARP9 | ENSG00000138496.17 | transcript | ENST00000682323.1 | protein_coding | 1/10 | chr3 | TogoVar | ||||||
PARPBP_chr12_102115183_102202520 | 102121545 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp1 HG02145.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0126a0001c0001t0001g0127others(4): Show | 9 | 344 | 0.0262 | -15 | c.-4+ others(30): Show |
PARPBP | ENSG00000185480.12 | transcript | ENST00000327680.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PARVB_chr22_44019302_44177939 | 44023537 | CAAAATAA others(8): Show |
C | upstream_gene_variant | MODIFIER | HG00642.hp1 HG01069.hp2 HG01071.hp1 others(18): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0023a0001c0001t0001g0050a0001c0001t0001g0069others(18): Show | 21 | 332 | 0.0633 | -15 | c.-80 others(24): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 764 | chr22 | TogoVar | ||||||
PARVB_chr22_44019302_44177939 | 44111432 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG02895.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0137a0001c0001t0010g0322 | 2 | 332 | 0.0060 | -15 | c.274 others(32): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PARVB_chr22_44019302_44177939 | 44122505 | AGAGAGAG others(8): Show |
A | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0068 | a0001c0001t0068g0329 | 1 | 332 | 0.0030 | -15 | c.376 others(32): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 4/12 | chr22 | TogoVar | ||||||
PATJ_chr1_61737480_62168915 | 61965121 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02602.hp1 HG02970.hp2 HG03130.hp1 others(1): Show |
a0045a0056a0058others(1): Show | a0045c0065a0056c0074a0058c0086others(1): Show | a0045c0065t0033a0056c0074t0019a0058c0086t0013others(1): Show | a0045c0065t0033g0043a0056c0074t0019g0041a0058c0086t0013g0013others(1): Show | 4 | 158 | 0.0253 | -15 | c.367 others(36): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 27/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PATJ_chr1_61737480_62168915 | 61991182 | AATGATGA others(8): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG01070.hp2 others(16): Show |
a0001a0002a0008others(8): Show | a0001c0001a0002c0029a0008c0016others(12): Show | a0001c0001t0001a0001c0001t0002a0002c0029t0001others(13): Show | a0001c0001t0001g0019a0001c0001t0002g0151a0002c0029t0001g0138others(16): Show | 19 | 158 | 0.1203 | -15 | c.386 others(32): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 28/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PATJ_chr1_61737480_62168915 | 61997785 | TTTTTGTT others(8): Show |
T | intron_variant | MODIFIER | HG01099.hp2 HG02109.hp1 |
a0005a0011 | a0005c0107a0011c0015 | a0005c0107t0003a0011c0015t0002 | a0005c0107t0003g0033a0011c0015t0002g0023 | 2 | 158 | 0.0127 | -15 | c.386 others(34): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 28/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PATJ_chr1_61737480_62168915 | 62048545 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02451.hp1 NA20129.hp1 |
a0013a0048 | a0013c0004a0048c0063 | a0013c0004t0001a0048c0063t0027 | a0013c0004t0001g0028a0048c0063t0027g0100 | 2 | 158 | 0.0127 | -15 | c.403 others(34): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 30/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PATJ_chr1_61737480_62168915 | 62069362 | TATTATAA others(8): Show |
T | intron_variant | MODIFIER | HG01167.hp1 NA18906.hp1 NA19030.hp2 |
a0006a0017a0041 | a0006c0070a0017c0033a0041c0103 | a0006c0070t0019a0017c0033t0006a0041c0103t0020 | a0006c0070t0019g0025a0017c0033t0006g0120a0041c0103t0020g0074 | 3 | 158 | 0.0190 | -15 | c.412 others(36): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 31/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PATJ_chr1_61737480_62168915 | 62125249 | AAAAACAA others(8): Show |
A | intron_variant | MODIFIER | HG02559.hp2 | a0047 | a0047c0108 | a0047c0108t0001 | a0047c0108t0001g0132 | 1 | 158 | 0.0063 | -15 | c.504 others(34): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 39/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PAWR_chr12_79579879_79695964 | 79613975 | ATATATTT others(8): Show |
A | intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0053 | 1 | 256 | 0.0039 | -15 | c.649 others(30): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 3/6 | chr12 | TogoVar | ||||||
PAWR_chr12_79579879_79695964 | 79613977 | ATATTTTT others(8): Show |
A | intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 256 | 0.0039 | -15 | c.649 others(30): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 3/6 | chr12 | TogoVar | ||||||
PAWR_chr12_79579879_79695964 | 79694317 | ATTTTTTT others(8): Show |
A | upstream_gene_variant | MODIFIER | HG02572.hp2 HG03041.hp1 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0038a0001c0001t0003g0039a0001c0001t0003g0040 | 3 | 256 | 0.0117 | -15 | c.-36 others(26): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 3354 | chr12 | TogoVar | ||||||
PAX2_chr10_100740582_100834944 | 100742843 | CTTTTTTT others(8): Show |
C | upstream_gene_variant | MODIFIER | HG00735.hp1 HG01109.hp2 HG01358.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0042a0001c0001t0050others(8): Show | a0001c0001t0001g0094a0001c0001t0001g0132a0001c0001t0001g0135others(12): Show | 15 | 232 | 0.0647 | -15 | c.-34 others(26): Show |
PAX2 | ENSG00000075891.24 | transcript | ENST00000355243.8 | protein_coding | 2738 | chr10 | TogoVar | ||||||
PAX3_chr2_222194887_222303998 | 222209696 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01175.hp2 HG01496.hp2 HG01884.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0091a0001c0001t0001g0212a0001c0001t0003g0155others(15): Show | 18 | 328 | 0.0549 | -15 | c.117 others(34): Show |
PAX3 | ENSG00000135903.20 | transcript | ENST00000392070.7 | protein_coding | 7/8 | chr2 | TogoVar | ||||||
PAX3_chr2_222194887_222303998 | 222260576 | TTGTTTTT others(8): Show |
T | intron_variant | MODIFIER | HG01975.hp1 HG02055.hp1 HG02622.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0006others(2): Show | a0001c0001t0001g0004a0001c0001t0005g0196a0001c0001t0005g0318others(6): Show | 9 | 328 | 0.0274 | -15 | c.587 others(34): Show |
PAX3 | ENSG00000135903.20 | transcript | ENST00000392070.7 | protein_coding | 4/8 | chr2 | TogoVar | ||||||
PAX3_chr2_222194887_222303998 | 222260578 | GTTTTTTT others(8): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(54): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0092a0001c0001t0001g0096others(54): Show | 57 | 328 | 0.1738 | -15 | c.587 others(34): Show |
PAX3 | ENSG00000135903.20 | transcript | ENST00000392070.7 | protein_coding | 4/8 | chr2 | TogoVar | ||||||
PAX3_chr2_222194887_222303998 | 222280398 | GAAAGAAA others(8): Show |
G | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0141 | 1 | 328 | 0.0031 | -15 | c.586 others(34): Show |
PAX3 | ENSG00000135903.20 | transcript | ENST00000392070.7 | protein_coding | 4/8 | chr2 | TogoVar | ||||||
PAX3_chr2_222194887_222303998 | 222303316 | TGGTGTGT others(8): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(241): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(241): Show | 244 | 328 | 0.7439 | -15 | c.-47 others(26): Show |
PAX3 | ENSG00000135903.20 | transcript | ENST00000392070.7 | protein_coding | 4319 | chr2 | TogoVar | ||||||
PAX5_chr9_36828269_37039268 | 36900634 | TCTCCATG others(8): Show |
T | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0002 | a0001c0002t0062 | a0001c0002t0062g0030 | 1 | 274 | 0.0037 | -15 | c.911 others(34): Show |
PAX5 | ENSG00000196092.14 | transcript | ENST00000358127.9 | protein_coding | 7/9 | chr9 | TogoVar | ||||||
PAX5_chr9_36828269_37039268 | 36973120 | GAAAGGAA others(8): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02258.hp1 HG02280.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0058a0001c0002t0007a0001c0002t0008others(3): Show | a0001c0001t0058g0020a0001c0002t0007g0235a0001c0002t0008g0254others(3): Show | 6 | 274 | 0.0219 | -15 | c.605 others(32): Show |
PAX5 | ENSG00000196092.14 | transcript | ENST00000358127.9 | protein_coding | 5/9 | chr9 | TogoVar | ||||||
PAX7_chr1_18625846_18753866 | 18681691 | ATTTATTT others(8): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00558.hp1 others(89): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0061a0001c0001t0001g0147a0001c0001t0001g0161others(89): Show | 92 | 302 | 0.3046 | -15 | c.587 others(34): Show |
PAX7 | ENSG00000009709.12 | transcript | ENST00000420770.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PAX8_chr2_113210997_113283921 | 113224839 | TATAAAAT others(8): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(141): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(16): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(119): Show | 144 | 300 | 0.4800 | -15 | c.118 others(34): Show |
PAX8 | ENSG00000125618.18 | transcript | ENST00000429538.8 | protein_coding | 10/11 | chr2 | TogoVar | ||||||
PAXX_chr9_136987422_136998976 | 136995792 | TGGAAGCA others(8): Show |
T | downstream_gene_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 384 | 0.0026 | -15 | c.*19 others(26): Show |
PAXX | ENSG00000148362.11 | transcript | ENST00000371620.4 | protein_coding | 1817 | chr9 | TogoVar |