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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PROZ_chr13_113153648_113177386 | 113154196 | G | GAGGAGGG others(10): Show |
upstream_gene_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0221 | 1 | 378 | 0.0027 | 17 | c.-44 others(28): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 4451 | chr13 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113154196 | G | GAGGCGGG others(10): Show |
upstream_gene_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0257 | 1 | 378 | 0.0027 | 17 | c.-44 others(28): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 4451 | chr13 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113154245 | G | GGCAGGGG others(10): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG00733.hp2 HG01106.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0002a0002c0003t0001 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0006others(11): Show | 18 | 378 | 0.0476 | 17 | c.-44 others(28): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 4402 | chr13 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113154293 | A | AGGGCGCG others(10): Show |
upstream_gene_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 378 | 0.0027 | 17 | c.-43 others(28): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 4354 | chr13 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113154308 | C | CGGGGCGC others(10): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0231 | 1 | 378 | 0.0027 | 17 | c.-43 others(28): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 4339 | chr13 | TogoVar | ||||||
PRPF31_chr19_54110754_54136713 | 54133982 | T | TCTCTCCC others(10): Show |
downstream_gene_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 227 | 0.0044 | 17 | c.*25 others(28): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2270 | chr19 | TogoVar | ||||||
PRPF3_chr1_150316533_150358233 | 150348459 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0344a0001c0001t0001g0348 | 2 | 362 | 0.0055 | 17 | c.184 others(34): Show |
PRPF3 | ENSG00000117360.13 | transcript | ENST00000324862.7 | protein_coding | 14/15 | chr1 | TogoVar | ||||||
PRPF3_chr1_150316533_150358233 | 150348460 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02559.hp2 HG02602.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0093a0001c0001t0001g0105a0001c0001t0001g0123others(4): Show | 7 | 362 | 0.0193 | 17 | c.184 others(34): Show |
PRPF3 | ENSG00000117360.13 | transcript | ENST00000324862.7 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRPF40A_chr2_152646732_152722461 | 152696484 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0191a0001c0001t0002g0193 | 2 | 372 | 0.0054 | 17 | c.343 others(34): Show |
PRPF40A | ENSG00000196504.21 | transcript | ENST00000545856.8 | protein_coding | 2/25 | chr2 | TogoVar | ||||||
PRPF4B_chr6_4016300_4069983 | 4029012 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00738.hp2 HG01109.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0024 | a0002c0002t0002g0020a0002c0002t0002g0182a0002c0002t0002g0187others(3): Show | 6 | 368 | 0.0163 | 17 | c.42- others(32): Show |
PRPF4B | ENSG00000112739.17 | transcript | ENST00000337659.11 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PRPF4B_chr6_4016300_4069983 | 4035284 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0135 | 1 | 368 | 0.0027 | 17 | c.123 others(36): Show |
PRPF4B | ENSG00000112739.17 | transcript | ENST00000337659.11 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PRPF6_chr20_63976132_64038100 | 63976764 | C | CAAAAAAA others(10): Show |
upstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0249 | 1 | 294 | 0.0034 | 17 | c.-44 others(28): Show |
PRPF6 | ENSG00000101161.8 | transcript | ENST00000266079.5 | protein_coding | 4367 | chr20 | TogoVar | ||||||
PRPH2_chr6_42691598_42727597 | 42705599 | A | AAAAAAAT others(10): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01070.hp1 HG01071.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0006 | a0001c0002t0001g0325a0001c0002t0001g0326a0001c0002t0006g0290 | 3 | 392 | 0.0077 | 17 | c.582 others(32): Show |
PRPH2 | ENSG00000112619.8 | transcript | ENST00000230381.7 | protein_coding | 1/2 | chr6 | TogoVar | ||||||
PRPH2_chr6_42691598_42727597 | 42705599 | A | AAAAATAT others(10): Show |
intron_variant | MODIFIER | HG01081.hp1 HG02015.hp1 NA18953.hp2 others(3): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0001c0002t0006a0001c0002t0009others(1): Show | a0001c0002t0001g0272a0001c0002t0001g0344a0001c0002t0001g0351others(3): Show | 6 | 392 | 0.0153 | 17 | c.582 others(32): Show |
PRPH2 | ENSG00000112619.8 | transcript | ENST00000230381.7 | protein_coding | 1/2 | chr6 | TogoVar | ||||||
PRPH2_chr6_42691598_42727597 | 42705599 | A | AAATATAT others(10): Show |
intron_variant | MODIFIER | HG01517.hp2 HG02004.hp2 HG02886.hp1 others(1): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0006a0002c0003t0003 | a0001c0002t0006g0321a0002c0003t0003g0213a0002c0003t0003g0307others(1): Show | 4 | 392 | 0.0102 | 17 | c.582 others(32): Show |
PRPH2 | ENSG00000112619.8 | transcript | ENST00000230381.7 | protein_coding | 1/2 | chr6 | TogoVar | ||||||
PRPS2_chrX_12786412_12829222 | 12826648 | G | GAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 HG00673.hp1 HG00735.hp1 others(35): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0020a0001c0001t0001g0030others(33): Show | 38 | 334 | 0.1138 | 17 | c.*38 others(28): Show |
PRPS2 | ENSG00000101911.13 | transcript | ENST00000380668.10 | protein_coding | 2427 | chrX | TogoVar | ||||||
PRPSAP1_chr17_76304478_76358916 | 76314228 | G | GTATGTAT others(10): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02615.hp2 HG02809.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0012a0001c0001t0016others(1): Show | a0001c0001t0010g0037a0001c0001t0010g0038a0001c0001t0010g0040others(7): Show | 10 | 366 | 0.0273 | 17 | c.782 others(32): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 7/9 | chr17 | TogoVar | ||||||
PRPSAP1_chr17_76304478_76358916 | 76347484 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01952.hp1 HG03491.hp1 HG03492.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0209a0001c0001t0003g0210a0001c0001t0003g0211others(1): Show | 4 | 366 | 0.0109 | 17 | c.223 others(34): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 2/9 | chr17 | TogoVar | ||||||
PRPSAP2_chr17_18853131_18936287 | 18858098 | T | TCCCGCCC others(10): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(174): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0003others(5): Show | a0001c0001t0002g0030a0001c0001t0002g0111a0001c0001t0002g0122others(173): Show | 177 | 392 | 0.4515 | 17 | c.-29 others(26): Show |
PRPSAP2 | ENSG00000141127.15 | transcript | ENST00000268835.7 | protein_coding | 32 | chr17 | TogoVar | ||||||
PRPSAP2_chr17_18853131_18936287 | 18892727 | G | GTGTGTGT others(10): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0048 | 1 | 392 | 0.0026 | 17 | c.584 others(34): Show |
PRPSAP2 | ENSG00000141127.15 | transcript | ENST00000268835.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PRPSAP2_chr17_18853131_18936287 | 18921249 | A | AAAAAGTG others(10): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02055.hp1 HG02257.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0006a0001c0002t0003a0001c0003t0003 | a0001c0001t0006g0189a0001c0001t0006g0190a0001c0001t0006g0191others(12): Show | 15 | 392 | 0.0383 | 17 | c.734 others(34): Show |
PRPSAP2 | ENSG00000141127.15 | transcript | ENST00000268835.7 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PRR11_chr17_59150746_59211709 | 59152603 | A | AAATAGTC others(10): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(146): Show |
a0001a0003a0006 | a0001c0001a0003c0003a0006c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0028a0001c0001t0001g0051a0001c0001t0001g0056others(136): Show | 149 | 290 | 0.5138 | 17 | c.-32 others(28): Show |
PRR11 | ENSG00000068489.13 | transcript | ENST00000262293.9 | protein_coding | 3142 | chr17 | TogoVar | ||||||
PRR12_chr19_49586182_49631439 | 49622906 | A | AAACATAT others(10): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0150 | 1 | 322 | 0.0031 | 17 | c.572 others(36): Show |
PRR12 | ENSG00000126464.15 | transcript | ENST00000418929.7 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PRR14L_chr22_31676347_31755132 | 31677604 | A | AAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | NA20300.hp2 | a0010 | a0010c0011 | a0010c0011t0004 | a0010c0011t0004g0087 | 1 | 316 | 0.0032 | 17 | c.*79 others(28): Show |
PRR14L | ENSG00000183530.14 | transcript | ENST00000327423.11 | protein_coding | 3742 | chr22 | TogoVar | ||||||
PRR16_chr5_120459300_120692314 | 120575318 | A | ACACACAC others(10): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 170 | 0.0059 | 17 | c.160 others(38): Show |
PRR16 | ENSG00000184838.15 | transcript | ENST00000407149.7 | protein_coding | 1/1 | chr5 | TogoVar | ||||||
PRR16_chr5_120459300_120692314 | 120685263 | A | ATGAGGAG others(10): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 170 | 0.0059 | 17 | c.160 others(32): Show |
PRR16 | ENSG00000184838.15 | transcript | ENST00000407149.7 | protein_coding | 1/1 | chr5 | TogoVar | ||||||
PRR20B_chr13_57142488_57155509 | 57148255 | C | CCTTGTTC others(10): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0004 | a0004c0006 | a0004c0006t0002 | a0004c0006t0002g0018 | 1 | 168 | 0.0060 | 17 | c.52+ others(30): Show |
PRR20B | ENSG00000204918.3 | transcript | ENST00000377930.1 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PRR23A_chr3_138998962_139011268 | 139010701 | C | CTTTTTTT others(10): Show |
upstream_gene_variant | MODIFIER | HG01192.hp1 HG01192.hp2 HG01978.hp1 others(19): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0000 | 22 | 384 | 0.0573 | 17 | c.-44 others(28): Show |
PRR23A | ENSG00000206260.4 | transcript | ENST00000383163.4 | protein_coding | 4434 | chr3 | TogoVar | ||||||
PRR23C_chr3_139037102_139049892 | 139044992 | G | GCGGTGGC others(10): Show |
upstream_gene_variant | MODIFIER | NA18939.hp1 NA19063.hp2 |
a0001 | a0001c0004 | a0001c0004t0010 | a0001c0004t0010g0000 | 2 | 426 | 0.0047 | 17 | c.-38 others(26): Show |
PRR23C | ENSG00000233701.3 | transcript | ENST00000413199.1 | protein_coding | 101 | chr3 | TogoVar | ||||||
PRR35_chr16_555394_570529 | 569850 | C | CCGGGCCT others(10): Show |
downstream_gene_variant | MODIFIER | HG02080.hp1 NA18964.hp2 NA18988.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 3 | 424 | 0.0071 | 17 | c.*45 others(28): Show |
PRR35 | ENSG00000161992.6 | transcript | ENST00000409413.4 | protein_coding | 4322 | chr16 | TogoVar | ||||||
PRR36_chr19_7863719_7879390 | 7878618 | A | ATATATAT others(10): Show |
upstream_gene_variant | MODIFIER | HG03471.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0002 | 1 | 386 | 0.0026 | 17 | c.-43 others(28): Show |
PRR36 | ENSG00000183248.12 | transcript | ENST00000618550.5 | protein_coding | 4229 | chr19 | TogoVar | ||||||
PRR5L_chr11_36291288_36470204 | 36420834 | A | ACACACAC others(10): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 272 | 0.0037 | 17 | c.294 others(34): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 4/8 | chr11 | TogoVar | ||||||
PRR5_chr22_44697204_44742681 | 44742345 | C | CTTTTTTT others(10): Show |
downstream_gene_variant | MODIFIER | HG00741.hp1 HG01123.hp1 HG01123.hp2 others(7): Show |
a0001a0007 | a0001c0001a0001c0005a0001c0017others(1): Show | a0001c0001t0001a0001c0005t0001a0001c0017t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0060a0001c0001t0001g0280others(6): Show | 10 | 442 | 0.0226 | 17 | c.*50 others(28): Show |
PRR5 | ENSG00000186654.21 | transcript | ENST00000336985.11 | protein_coding | 4665 | chr22 | TogoVar | ||||||
PRRC2B_chr9_131389086_131505193 | 131420493 | C | CTTTCTTT others(10): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02630.hp1 NA18947.hp1 others(2): Show |
a0001a0002a0005 | a0001c0001a0002c0003a0005c0005 | a0001c0001t0001a0002c0003t0003a0005c0005t0001others(1): Show | a0001c0001t0001g0048a0001c0001t0001g0109a0002c0003t0003g0030others(2): Show | 5 | 216 | 0.0232 | 17 | c.-51 others(34): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PRRC2B_chr9_131389086_131505193 | 131448543 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG02027.hp1 others(1): Show |
a0001a0007 | a0001c0001a0007c0017 | a0001c0001t0001a0001c0001t0002a0007c0017t0001 | a0001c0001t0001g0054a0001c0001t0001g0112a0001c0001t0002g0195others(1): Show | 4 | 216 | 0.0185 | 17 | c.112 others(34): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 9/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PRRC2B_chr9_131389086_131505193 | 131448547 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0107 | 1 | 216 | 0.0046 | 17 | c.112 others(34): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 9/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PRRC2C_chr1_171480530_171598511 | 171526805 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0326 | 1 | 336 | 0.0030 | 17 | c.120 others(34): Show |
PRRC2C | ENSG00000117523.18 | transcript | ENST00000647382.2 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRRX1_chr1_170659131_170744421 | 170669425 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01243.hp2 HG01433.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0001g0030a0001c0001t0001g0047a0001c0001t0001g0088others(10): Show | 13 | 356 | 0.0365 | 17 | c.241 others(34): Show |
PRRX1 | ENSG00000116132.12 | transcript | ENST00000239461.11 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRRX2_chr9_129660647_129727674 | 129667160 | T | TCTGAGTG others(10): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(263): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(260): Show | 266 | 358 | 0.7430 | 17 | c.259 others(34): Show |
PRRX2 | ENSG00000167157.11 | transcript | ENST00000372469.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PRSS12_chr4_118275038_118358003 | 118316837 | A | AAAAAAAT others(10): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0193 | 1 | 364 | 0.0028 | 17 | c.115 others(34): Show |
PRSS12 | ENSG00000164099.3 | transcript | ENST00000296498.3 | protein_coding | 5/12 | chr4 | TogoVar | ||||||
PRSS12_chr4_118275038_118358003 | 118316837 | A | AAAAATAT others(10): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01433.hp2 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0294a0001c0001t0008g0295a0001c0001t0008g0296 | 3 | 364 | 0.0082 | 17 | c.115 others(34): Show |
PRSS12 | ENSG00000164099.3 | transcript | ENST00000296498.3 | protein_coding | 5/12 | chr4 | TogoVar | ||||||
PRSS12_chr4_118275038_118358003 | 118316837 | A | AAATATAT others(10): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0144 | 1 | 364 | 0.0028 | 17 | c.115 others(34): Show |
PRSS12 | ENSG00000164099.3 | transcript | ENST00000296498.3 | protein_coding | 5/12 | chr4 | TogoVar | ||||||
PRSS16_chr6_27242701_27261620 | 27247241 | T | TGAAAAGA others(10): Show |
upstream_gene_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 370 | 0.0027 | 17 | c.-49 others(26): Show |
PRSS16 | ENSG00000112812.16 | transcript | ENST00000230582.8 | protein_coding | 459 | chr6 | TogoVar | ||||||
PRSS33_chr16_2778953_2792560 | 2781867 | C | CCTCCTGC others(10): Show |
downstream_gene_variant | MODIFIER | HG02572.hp2 HG02965.hp1 HG02970.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026a0001c0001t0001g0034 | 4 | 386 | 0.0104 | 17 | c.*27 others(28): Show |
PRSS33 | ENSG00000103355.14 | transcript | ENST00000682474.1 | protein_coding | 2085 | chr16 | TogoVar | ||||||
PRSS33_chr16_2778953_2792560 | 2787117 | C | CCTCTCAT others(10): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 386 | 0.0026 | 17 | c.-58 others(32): Show |
PRSS33 | ENSG00000103355.14 | transcript | ENST00000682474.1 | protein_coding | 1/6 | chr16 | TogoVar | ||||||
PRSS54_chr16_58274997_58300025 | 58278243 | A | AAAAGGAA others(10): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 HG00673.hp1 HG00733.hp2 others(43): Show |
a0003a0004 | a0003c0004a0003c0006a0004c0005 | a0003c0004t0001a0003c0004t0002a0003c0006t0001others(2): Show | a0003c0004t0001g0031a0003c0004t0001g0046a0003c0004t0001g0056others(17): Show | 46 | 412 | 0.1117 | 17 | c.*19 others(28): Show |
PRSS54 | ENSG00000103023.12 | transcript | ENST00000567164.6 | protein_coding | 1753 | chr16 | TogoVar | ||||||
PRSS55_chr8_10520532_10543819 | 10524919 | A | AAGCCGTG others(10): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(157): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0012a0001c0021others(11): Show | a0001c0001t0001a0001c0012t0001a0001c0021t0001others(11): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0008others(62): Show | 160 | 480 | 0.3333 | 17 | c.-66 others(26): Show |
PRSS55 | ENSG00000184647.11 | transcript | ENST00000328655.8 | protein_coding | 612 | chr8 | TogoVar | ||||||
PRSS57_chr19_680546_700452 | 688602 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02135.hp1 HG02698.hp1 HG04115.hp2 others(3): Show |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0022a0001c0005t0001g0210a0001c0005t0001g0211others(1): Show | 6 | 442 | 0.0136 | 17 | c.379 others(34): Show |
PRSS57 | ENSG00000185198.12 | transcript | ENST00000329267.9 | protein_coding | 3/4 | chr19 | TogoVar | ||||||
PRTFDC1_chr10_24843614_24957606 | 24880815 | C | CTTTCTTT others(10): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0104 | 1 | 338 | 0.0030 | 17 | c.340 others(34): Show |
PRTFDC1 | ENSG00000099256.19 | transcript | ENST00000320152.11 | protein_coding | 3/8 | chr10 | TogoVar | ||||||
PRTFDC1_chr10_24843614_24957606 | 24880819 | C | CTTTCTTT others(10): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00597.hp2 NA18954.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0004a0003c0002t0004 | a0001c0001t0004g0109a0001c0001t0004g0146a0001c0001t0004g0152others(3): Show | 6 | 338 | 0.0178 | 17 | c.340 others(34): Show |
PRTFDC1 | ENSG00000099256.19 | transcript | ENST00000320152.11 | protein_coding | 3/8 | chr10 | TogoVar |