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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PAH_chr12_102831889_102922244 | 102899886 | A | AAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0219 | 1 | 312 | 0.0032 | 31 | c.169 others(48): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | TogoVar | |||||||
PAIP1_chr5_43521267_43562077 | 43531656 | C | CAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG02165.hp2 NA19064.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 a0001c0001t0001g0226 |
2 | 18 | 0.1111 | 31 | c.125 others(50): Show |
PAIP1 | ENSG00000172239.14 | transcript | ENST00000306846.8 | protein_coding | 9/10 | chr5 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196751695 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | HG01981.hp1 NA18940.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0008a0001c0003t0006 | a0001c0001t0008g0068 a0001c0003t0006g0067 |
2 | 101 | 0.0198 | 31 | c.-22 others(50): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196833462 | A | ATATATAT others(24): Show |
downstream_gene_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0063 | a0001c0001t0063g0109 | 1 | 117 | 0.0085 | 31 | c.*50 others(42): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 816 | chr3 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196833468 | A | ATATATAT others(24): Show |
downstream_gene_variant | MODIFIER | HG01981.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0157 | 1 | 59 | 0.0169 | 31 | c.*50 others(42): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 822 | chr3 | TogoVar | |||||||
PALLD_chr4_168492052_168933441 | 168709613 | A | AGGGAGGG others(24): Show |
intron_variant | MODIFIER | HG01952.hp1 HG02004.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0124 a0001c0001t0008g0009 |
2 | 117 | 0.0171 | 31 | c.162 others(48): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 9/21 | chr4 | TogoVar | |||||||
PALLD_chr4_168492052_168933441 | 168709633 | A | AGGGAGGG others(24): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02922.hp2 NA18966.hp1 |
a0001a0002 | a0001c0002a0002c0003a0002c0007 | a0001c0002t0010a0002c0003t0005a0002c0007t0004 | a0001c0002t0010g0099 a0002c0003t0005g0121 a0002c0007t0004g0028 |
3 | 58 | 0.0517 | 31 | c.162 others(48): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 9/21 | chr4 | TogoVar | |||||||
PALM2AKAP2_chr9_109775198_110177512 | 110135164 | A | AAAAAAAA others(24): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0006 | a0001c0006t0027 | a0001c0006t0027g0188 | 1 | 129 | 0.0078 | 31 | c.583 others(46): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PALM2AKAP2_chr9_109775198_110177512 | 110135164 | A | AAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0007 | a0007c0011 | a0007c0011t0002 | a0007c0011t0002g0218 | 1 | 129 | 0.0078 | 31 | c.583 others(46): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PALM2AKAP2_chr9_109775198_110177512 | 110135164 | A | AAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG03486.hp2 NA18960.hp2 NA18990.hp1 |
a0001a0007 | a0001c0001a0007c0011 | a0001c0001t0001a0007c0011t0002 | a0001c0001t0001g0006 a0001c0001t0001g0088 a0007c0011t0002g0185 |
3 | 131 | 0.0229 | 31 | c.583 others(46): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PALMD_chr1_99641113_99699535 | 99652740 | G | GAAAAGAA others(24): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 318 | 0.0031 | 31 | c.45+ others(46): Show |
PALMD | ENSG00000099260.12 | transcript | ENST00000263174.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PALM_chr19_703935_753329 | 737621 | G | GCAAGGCA others(24): Show |
intron_variant | MODIFIER | HG00544.hp1 NA18959.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0004a0001c0003t0001 | a0001c0002t0004g0249 a0001c0003t0001g0250 |
2 | 402 | 0.0050 | 31 | c.502 others(48): Show |
PALM | ENSG00000099864.18 | transcript | ENST00000338448.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PALM_chr19_703935_753329 | 741519 | C | CGGGCTGC others(24): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0370 | 1 | 244 | 0.0041 | 31 | c.634 others(48): Show |
PALM | ENSG00000099864.18 | transcript | ENST00000338448.10 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PALS1_chr14_67236435_67341061 | 67284429 | T | TAAAAAAA others(24): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0276 | 1 | 121 | 0.0083 | 31 | c.367 others(48): Show |
PALS1 | ENSG00000072415.10 | transcript | ENST00000261681.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PAN3_chr13_28133545_28300335 | 28257706 | T | TATTATAT others(24): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0208 | 1 | 250 | 0.0040 | 31 | c.124 others(50): Show |
PAN3 | ENSG00000152520.14 | transcript | ENST00000380958.8 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PANK3_chr5_168543495_168584368 | 168565868 | A | AAAAAATA others(24): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0290 | 1 | 159 | 0.0063 | 31 | c.635 others(46): Show |
PANK3 | ENSG00000120137.7 | transcript | ENST00000239231.7 | protein_coding | 3/6 | chr5 | TogoVar | |||||||
PANK3_chr5_168543495_168584368 | 168565868 | A | AAATATAT others(24): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0264 | 1 | 159 | 0.0063 | 31 | c.635 others(46): Show |
PANK3 | ENSG00000120137.7 | transcript | ENST00000239231.7 | protein_coding | 3/6 | chr5 | TogoVar | |||||||
PAPOLG_chr2_60751268_60807086 | 60783500 | C | CTTTTTTT others(24): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0278 | 1 | 142 | 0.0070 | 31 | c.116 others(48): Show |
PAPOLG | ENSG00000115421.13 | transcript | ENST00000238714.8 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PAPSS2_chr10_87654878_87752705 | 87706108 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0221 | 1 | 194 | 0.0052 | 31 | c.28- others(46): Show |
PAPSS2 | ENSG00000198682.13 | transcript | ENST00000456849.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PAPSS2_chr10_87654878_87752705 | 87713312 | T | TAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00609.hp2 HG01943.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0010others(1): Show | a0001c0001t0003g0025 a0001c0001t0003g0071 a0001c0001t0003g0110 others(11): Show |
14 | 112 | 0.1250 | 31 | c.381 others(44): Show |
PAPSS2 | ENSG00000198682.13 | transcript | ENST00000456849.2 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69383273 | G | GCGTGCTC others(24): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(238): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(22): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(238): Show |
241 | 280 | 0.8607 | 31 | c.180 others(48): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69383296 | C | CGGGCCCT others(24): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 282 | 0.0035 | 31 | c.180 others(48): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69383763 | G | GTTCATCG others(24): Show |
intron_variant | MODIFIER | HG00408.hp1 HG02015.hp2 NA19010.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0154 a0001c0001t0004g0150 a0001c0001t0004g0153 others(2): Show |
5 | 282 | 0.0177 | 31 | c.180 others(46): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 4/8 | chr15 | TogoVar | |||||||
PAQR5_chr15_69293912_69412780 | 69384383 | T | TCCTCCGT others(24): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02809.hp1 HG02886.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0009others(1): Show | a0002c0002t0001g0126 a0002c0002t0002g0214 a0002c0002t0002g0224 others(3): Show |
6 | 275 | 0.0218 | 31 | c.180 others(46): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69384410 | C | CGGGCCCT others(24): Show |
intron_variant | MODIFIER | HG02630.hp2 HG03130.hp1 HG06807.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0018 | a0001c0001t0006g0209 a0001c0001t0006g0252 a0001c0001t0006g0253 others(1): Show |
4 | 86 | 0.0465 | 31 | c.180 others(46): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69384441 | C | CGGGCCCT others(24): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00558.hp1 others(56): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001a0002c0002t0002others(3): Show | a0001c0001t0002g0161 a0001c0001t0002g0170 a0001c0001t0002g0178 others(56): Show |
59 | 272 | 0.2169 | 31 | c.180 others(46): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69384507 | C | CCCTCCGT others(24): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0266 | 1 | 282 | 0.0035 | 31 | c.180 others(46): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR9_chr3_142949585_142968674 | 142967469 | A | AAAAAAAA others(24): Show |
upstream_gene_variant | MODIFIER | HG02280.hp1 | a0002 | a0002c0003 | a0002c0003t0009 | a0002c0003t0009g0000 | 1 | 325 | 0.0031 | 31 | c.-41 others(42): Show |
PAQR9 | ENSG00000188582.10 | transcript | ENST00000340634.6 | protein_coding | 3796 | chr3 | TogoVar | |||||||
PAQR9_chr3_142949585_142968674 | 142967469 | A | AAAAAAAA others(24): Show |
upstream_gene_variant | MODIFIER | HG03209.hp2 | a0002 | a0002c0003 | a0002c0003t0009 | a0002c0003t0009g0000 | 1 | 325 | 0.0031 | 31 | c.-41 others(42): Show |
PAQR9 | ENSG00000188582.10 | transcript | ENST00000340634.6 | protein_coding | 3796 | chr3 | TogoVar | |||||||
PARD3B_chr2_204540475_205625162 | 204648652 | A | AATATATT others(24): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02257.hp1 HG02723.hp1 others(3): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0004others(2): Show | a0001c0001t0001a0001c0003t0001a0002c0004t0014others(3): Show | a0001c0001t0001g0053 a0001c0003t0001g0031 a0002c0004t0014g0016 others(3): Show |
6 | 28 | 0.2143 | 31 | c.121 others(50): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 204648884 | T | TATATCAT others(24): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0010 | 1 | 41 | 0.0244 | 31 | c.121 others(50): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 204648946 | G | GATATCAT others(24): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0017 | 1 | 27 | 0.0370 | 31 | c.121 others(50): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 204648977 | G | GATATCAT others(24): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0003 | a0003c0009 | a0003c0009t0002 | a0003c0009t0002g0034 | 1 | 27 | 0.0370 | 31 | c.121 others(50): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 204649008 | G | GATATCAT others(24): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02145.hp2 HG02886.hp2 others(6): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0004others(3): Show | a0001c0001t0002a0001c0001t0010a0002c0002t0001others(4): Show | a0001c0001t0002g0019 a0001c0001t0002g0033 a0001c0001t0010g0050 others(6): Show |
9 | 20 | 0.4500 | 31 | c.121 others(50): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 204883455 | A | ATATATAA others(24): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02723.hp2 |
a0001a0010 | a0001c0015a0010c0025 | a0001c0015t0006a0010c0025t0022 | a0001c0015t0006g0023 a0010c0025t0022g0009 |
2 | 11 | 0.1818 | 31 | c.223 others(50): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 205036367 | A | AAAAATAT others(24): Show |
intron_variant | MODIFIER | HG01109.hp1 HG03471.hp2 |
a0003a0012 | a0003c0009a0012c0023 | a0003c0009t0002a0012c0023t0001 | a0003c0009t0002g0034 a0012c0023t0001g0052 |
2 | 54 | 0.0370 | 31 | c.395 others(50): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 205054436 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0027 | 1 | 37 | 0.0270 | 31 | c.504 others(48): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD6G_chr18_80152232_80252514 | 80195548 | C | CATATATA others(24): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0258 | 1 | 182 | 0.0055 | 31 | c.295 others(48): Show |
PARD6G | ENSG00000178184.16 | transcript | ENST00000353265.8 | protein_coding | 2/2 | chr18 | TogoVar | |||||||
PARD6G_chr18_80152232_80252514 | 80195570 | T | TATATATA others(24): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0329 | 1 | 374 | 0.0027 | 31 | c.295 others(48): Show |
PARD6G | ENSG00000178184.16 | transcript | ENST00000353265.8 | protein_coding | 2/2 | chr18 | TogoVar | |||||||
PARN_chr16_14430701_14635260 | 14501435 | C | CAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG02132.hp1 HG02165.hp2 NA19090.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006 | a0001c0001t0001g0073 a0001c0001t0005g0156 a0001c0001t0006g0012 |
3 | 9 | 0.3333 | 31 | c.148 others(52): Show |
PARN | ENSG00000140694.18 | transcript | ENST00000437198.7 | protein_coding | 21/23 | chr16 | TogoVar | |||||||
PARP14_chr3_122675839_122735840 | 122677565 | A | AAAAAAAA others(24): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0316 | 1 | 213 | 0.0047 | 31 | c.-33 others(42): Show |
PARP14 | ENSG00000173193.15 | transcript | ENST00000474629.7 | protein_coding | 3273 | chr3 | TogoVar | |||||||
PARP14_chr3_122675839_122735840 | 122677565 | A | AAAAAAAA others(24): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0328 | 1 | 213 | 0.0047 | 31 | c.-33 others(42): Show |
PARP14 | ENSG00000173193.15 | transcript | ENST00000474629.7 | protein_coding | 3273 | chr3 | TogoVar | |||||||
PARP15_chr3_122572650_122644047 | 122601036 | G | GTTTTTTT others(24): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02630.hp2 |
a0002a0003 | a0002c0014a0003c0003 | a0002c0014t0014a0003c0003t0001 | a0002c0014t0014g0260 a0003c0003t0001g0271 |
2 | 210 | 0.0095 | 31 | c.187 others(48): 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(24): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG01074.hp2 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0022 a0001c0002t0001g0045 a0001c0002t0001g0050 others(6): Show |
10 | 86 | 0.1163 | 31 | c.175 others(48): Show |
PARP16 | ENSG00000138617.16 | transcript | ENST00000649807.2 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
PARP4_chr13_24415931_24517778 | 24510728 | T | TATGCAGA others(24): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01243.hp2 HG01884.hp2 others(19): Show |
a0009a0010a0017others(8): Show | a0009c0010a0010c0011a0017c0016others(8): Show | a0009c0010t0003a0010c0011t0001a0017c0016t0001others(8): Show | a0009c0010t0003g0014 a0009c0010t0003g0015 a0009c0010t0003g0016 others(19): Show |
22 | 360 | 0.0611 | 31 | c.-2+ others(46): Show |
PARP4 | ENSG00000102699.6 | transcript | ENST00000381989.4 | protein_coding | 1/33 | chr13 | TogoVar | |||||||
PARVB_chr22_44019302_44177939 | 44034253 | T | TGTCTTTA others(24): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02559.hp1 HG02572.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0001t0009a0001c0002t0004others(2): Show | a0001c0001t0008g0091 a0001c0001t0009g0120 a0001c0001t0009g0129 others(3): Show |
6 | 325 | 0.0185 | 31 | c.112 others(48): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PARVB_chr22_44019302_44177939 | 44034284 | T | TGTCTTTA others(24): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0185 a0001c0001t0012g0188 |
2 | 183 | 0.0109 | 31 | c.112 others(48): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PARVB_chr22_44019302_44177939 | 44034315 | T | TGTCTTTA others(24): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 206 | 0.0049 | 31 | c.112 others(48): 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(24): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(259): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0004others(29): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(105): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(259): Show |
262 | 329 | 0.7964 | 31 | c.693 others(44): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PARVB_chr22_44019302_44177939 | 44140054 | C | CACTTTCT others(24): Show |
intron_variant | MODIFIER | HG01433.hp2 HG04184.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0233 a0001c0001t0003g0241 |
2 | 330 | 0.0061 | 31 | c.693 others(44): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar |