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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PLXNB2_chr22_50269979_50312646 | 50285724 | C | CTGCCTGT others(34): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02055.hp1 HG02145.hp2 others(9): Show |
a0002 | a0002c0010a0002c0013 | a0002c0010t0003a0002c0013t0003 | a0002c0010t0003g0243a0002c0010t0003g0244a0002c0010t0003g0245others(9): Show | 12 | 302 | 0.0397 | 41 | c.208 others(56): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 11/36 | chr22 | TogoVar | ||||||
PMM1_chr22_41571900_41594840 | 41594335 | G | GGGTGGGG others(34): Show |
upstream_gene_variant | MODIFIER | HG01069.hp2 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0025 | 2 | 330 | 0.0061 | 41 | c.-45 others(52): Show |
PMM1 | ENSG00000100417.12 | transcript | ENST00000216259.8 | protein_coding | 4496 | chr22 | TogoVar | ||||||
PMM1_chr22_41571900_41594840 | 41594338 | T | TGGGGGGG others(34): Show |
upstream_gene_variant | MODIFIER | HG02165.hp2 HG02280.hp1 HG03490.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0012others(1): Show | 4 | 330 | 0.0121 | 41 | c.-45 others(52): Show |
PMM1 | ENSG00000100417.12 | transcript | ENST00000216259.8 | protein_coding | 4499 | chr22 | TogoVar | ||||||
PMM1_chr22_41571900_41594840 | 41594338 | T | TGGGGGGG others(34): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG01934.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0006 | 2 | 330 | 0.0061 | 41 | c.-45 others(52): Show |
PMM1 | ENSG00000100417.12 | transcript | ENST00000216259.8 | protein_coding | 4499 | chr22 | TogoVar | ||||||
PMM1_chr22_41571900_41594840 | 41594338 | T | TGGGGGGG others(34): Show |
upstream_gene_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 330 | 0.0030 | 41 | c.-45 others(52): Show |
PMM1 | ENSG00000100417.12 | transcript | ENST00000216259.8 | protein_coding | 4499 | chr22 | TogoVar | ||||||
PMM1_chr22_41571900_41594840 | 41594340 | G | GGGGGGTG others(34): Show |
upstream_gene_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 330 | 0.0030 | 41 | c.-45 others(52): Show |
PMM1 | ENSG00000100417.12 | transcript | ENST00000216259.8 | protein_coding | 4501 | chr22 | TogoVar | ||||||
PMM1_chr22_41571900_41594840 | 41594358 | T | TGGGGGGG others(34): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 HG01884.hp1 HG02683.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0110a0001c0001t0001g0118 | 3 | 330 | 0.0091 | 41 | c.-45 others(52): Show |
PMM1 | ENSG00000100417.12 | transcript | ENST00000216259.8 | protein_coding | 4519 | chr22 | TogoVar | ||||||
PMM1_chr22_41571900_41594840 | 41594378 | T | TGGGGGGG others(34): Show |
upstream_gene_variant | MODIFIER | HG02602.hp2 NA18980.hp1 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0030 | 3 | 330 | 0.0091 | 41 | c.-45 others(52): Show |
PMM1 | ENSG00000100417.12 | transcript | ENST00000216259.8 | protein_coding | 4539 | chr22 | TogoVar | ||||||
PMM1_chr22_41571900_41594840 | 41594391 | G | GAGGCGGT others(34): Show |
upstream_gene_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 330 | 0.0030 | 41 | c.-45 others(52): Show |
PMM1 | ENSG00000100417.12 | transcript | ENST00000216259.8 | protein_coding | 4552 | chr22 | TogoVar | ||||||
PMS2_chr7_5965925_6014049 | 6009974 | A | AAAAAAAA others(34): Show |
upstream_gene_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0082 | 1 | 408 | 0.0025 | 41 | c.-95 others(50): Show |
PMS2 | ENSG00000122512.17 | transcript | ENST00000265849.12 | protein_coding | 926 | chr7 | TogoVar | ||||||
PMS2_chr7_5965925_6014049 | 6009974 | A | AAAAAAAA others(34): Show |
upstream_gene_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0283 | 1 | 408 | 0.0025 | 41 | c.-95 others(50): Show |
PMS2 | ENSG00000122512.17 | transcript | ENST00000265849.12 | protein_coding | 926 | chr7 | TogoVar | ||||||
PNMA3_chrX_153051470_153065462 | 153064914 | G | GTATATAT others(34): Show |
downstream_gene_variant | MODIFIER | HG02258.hp1 HG02818.hp1 HG02896.hp1 others(8): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0007a0001c0001t0039a0001c0006t0007 | a0001c0001t0007g0001a0001c0001t0039g0001a0001c0006t0007g0001 | 11 | 326 | 0.0337 | 41 | c.*64 others(52): Show |
PNMA3 | ENSG00000183837.10 | transcript | ENST00000593810.3 | protein_coding | 4453 | chrX | TogoVar | ||||||
PNPLA7_chr9_137454952_137555402 | 137501353 | T | TTCCACTG others(34): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0012 | a0012c0015 | a0012c0015t0001 | a0012c0015t0001g0158 | 1 | 188 | 0.0053 | 41 | c.155 others(58): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 15/34 | chr9 | TogoVar | ||||||
PNPLA7_chr9_137454952_137555402 | 137502737 | C | CGGGGGGG others(34): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 188 | 0.0053 | 41 | c.147 others(60): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | ||||||
POLRMT_chr19_612221_638537 | 620882 | T | TGGGGGCG others(34): Show |
intron_variant | MODIFIER | HG02818.hp2 NA19240.hp1 |
a0002a0015 | a0002c0006a0015c0026 | a0002c0006t0004a0015c0026t0004 | a0002c0006t0004g0171a0015c0026t0004g0169 | 2 | 422 | 0.0047 | 41 | c.264 others(58): Show |
POLRMT | ENSG00000099821.14 | transcript | ENST00000588649.7 | protein_coding | 10/20 | chr19 | TogoVar | ||||||
POM121L12_chr7_53030633_53041925 | 53041458 | A | AATTTGTG others(34): Show |
downstream_gene_variant | MODIFIER | HG02074.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0000 | 1 | 432 | 0.0023 | 41 | c.*48 others(52): Show |
POM121L12 | ENSG00000221900.6 | transcript | ENST00000408890.6 | protein_coding | 4534 | chr7 | TogoVar | ||||||
PON2_chr7_95399862_95440028 | 95400093 | T | TTAATTAA others(34): Show |
downstream_gene_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 398 | 0.0025 | 41 | c.*52 others(52): Show |
PON2 | ENSG00000105854.13 | transcript | ENST00000222572.8 | protein_coding | 4768 | chr7 | TogoVar | ||||||
POU6F2_chr7_38972909_39473601 | 39015991 | A | AATATATA others(34): Show |
intron_variant | MODIFIER | HG02056.hp2 HG02280.hp1 HG02698.hp2 others(11): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0002g0059a0001c0001t0002g0094a0001c0001t0002g0141others(11): Show | 14 | 170 | 0.0824 | 41 | c.105 others(60): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
PPARA_chr22_46145526_46248755 | 46174266 | G | GAAGGAAG others(34): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02071.hp1 HG02109.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0009others(2): Show | a0001c0001t0003g0101a0001c0001t0003g0102a0001c0001t0003g0144others(4): Show | 7 | 200 | 0.0350 | 41 | c.-12 others(60): Show |
PPARA | ENSG00000186951.17 | transcript | ENST00000407236.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PPARA_chr22_46145526_46248755 | 46174266 | G | GAAGGAAG others(34): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0011 | 1 | 200 | 0.0050 | 41 | c.-12 others(60): Show |
PPARA | ENSG00000186951.17 | transcript | ENST00000407236.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PPARGC1A_chr4_23787021_23895047 | 23844627 | A | ATATAATA others(34): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0315 | 1 | 342 | 0.0029 | 41 | c.235 others(60): Show |
PPARGC1A | ENSG00000109819.9 | transcript | ENST00000264867.7 | protein_coding | 2/12 | chr4 | TogoVar | ||||||
PPARGC1A_chr4_23787021_23895047 | 23844764 | A | AATATATG others(34): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0178 | 1 | 342 | 0.0029 | 41 | c.235 others(60): Show |
PPARGC1A | ENSG00000109819.9 | transcript | ENST00000264867.7 | protein_coding | 2/12 | chr4 | TogoVar | ||||||
PPEF2_chr4_75854867_75907452 | 75877006 | A | AGAAAGAA others(34): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 270 | 0.0037 | 41 | c.934 others(56): Show |
PPEF2 | ENSG00000156194.19 | transcript | ENST00000286719.12 | protein_coding | 10/16 | chr4 | TogoVar | ||||||
PPFIA1_chr11_70265690_70389396 | 70277060 | A | ATATATAT others(34): Show |
intron_variant | MODIFIER | HG02257.hp1 HG03195.hp2 |
a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0158a0001c0005t0003g0159 | 2 | 282 | 0.0071 | 41 | c.264 others(58): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PPHLN1_chr12_42321167_42447181 | 42350066 | C | CGGGGGCG others(34): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0214 | 1 | 376 | 0.0027 | 41 | c.73- others(56): Show |
PPHLN1 | ENSG00000134283.18 | transcript | ENST00000358314.12 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PPIAL4H_chr1_146339006_146349765 | 146345038 | C | CTTTCTTT others(34): Show |
upstream_gene_variant | MODIFIER | HG01175.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0000 | 1 | 416 | 0.0024 | 41 | c.-32 others(50): Show |
PPIAL4H | ENSG00000270339.4 | transcript | ENST00000584068.4 | protein_coding | 274 | chr1 | TogoVar | ||||||
PPIL2_chr22_21661012_21702907 | 21684289 | G | GAGACCAT others(34): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(200): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0008a0001c0001t0001g0023a0001c0001t0001g0141others(167): Show | 203 | 378 | 0.5370 | 41 | c.554 others(56): Show |
PPIL2 | ENSG00000100023.20 | transcript | ENST00000398831.8 | protein_coding | 9/19 | chr22 | TogoVar | ||||||
PPP1R12B_chr1_202343699_202597702 | 202596366 | T | TGTGGTGT others(34): Show |
downstream_gene_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0091 | a0001c0001t0091g0180 | 1 | 254 | 0.0039 | 41 | c.*15 others(54): Show |
PPP1R12B | ENSG00000077157.23 | transcript | ENST00000608999.6 | protein_coding | 3665 | chr1 | TogoVar | ||||||
PPP1R16B_chr20_38800697_38928024 | 38855982 | A | AGAGAGAG others(34): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 244 | 0.0041 | 41 | c.250 others(60): Show |
PPP1R16B | ENSG00000101445.10 | transcript | ENST00000299824.6 | protein_coding | 2/10 | chr20 | TogoVar | ||||||
PPP2R2B_chr5_146575742_146883757 | 146647220 | C | CTAAATAA others(34): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG00597.hp2 others(122): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(85): Show | a0001c0001t0001g0107a0001c0001t0001g0113a0001c0001t0001g0116others(122): Show | 125 | 170 | 0.7353 | 41 | c.625 others(58): Show |
PPP2R2B | ENSG00000156475.19 | transcript | ENST00000394411.9 | protein_coding | 6/9 | chr5 | TogoVar | ||||||
PPP2R2D_chr10_131896008_131964834 | 131952857 | C | CGGGTGTG others(34): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02896.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0158a0001c0001t0009g0177 | 2 | 394 | 0.0051 | 41 | c.108 others(60): Show |
PPP2R2D | ENSG00000175470.20 | transcript | ENST00000455566.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PPP2R5C_chr14_101756709_101932977 | 101924445 | C | CTTTTTTT others(34): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 138 | 0.0073 | 41 | c.160 others(58): Show |
PPP2R5C | ENSG00000078304.20 | transcript | ENST00000694906.1 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PPP3CC_chr8_22436078_22546125 | 22489672 | G | GTATATAT others(34): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01106.hp2 NA18977.hp1 |
a0001a0004a0005 | a0001c0001a0004c0005a0005c0006 | a0001c0001t0005a0004c0005t0003a0005c0006t0006 | a0001c0001t0005g0075a0004c0005t0003g0082a0005c0006t0006g0220 | 3 | 326 | 0.0092 | 41 | c.373 others(58): Show |
PPP3CC | ENSG00000120910.15 | transcript | ENST00000240139.10 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PRAMEF14_chr1_13336892_13352134 | 13349251 | A | AGAAAGAA others(34): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 NA18945.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0003a0002c0002t0001g0006 | 2 | 256 | 0.0078 | 41 | c.-22 others(52): Show |
PRAMEF14 | ENSG00000204481.8 | transcript | ENST00000334600.7 | protein_coding | 2118 | chr1 | TogoVar | ||||||
PRAMEF15_chr1_13310581_13327598 | 13327506 | T | TCTCCCGT others(34): Show |
downstream_gene_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 302 | 0.0033 | 41 | c.*52 others(52): Show |
PRAMEF15 | ENSG00000204501.7 | transcript | ENST00000376152.2 | protein_coding | 4909 | chr1 | TogoVar | ||||||
PRAMEF8_chr1_13276304_13290137 | 13286184 | G | GGGAGGGA others(34): Show |
upstream_gene_variant | MODIFIER | NA18994.hp1 | a0010 | a0010c0017 | a0010c0017t0001 | a0010c0017t0001g0054 | 1 | 332 | 0.0030 | 41 | c.-11 others(52): Show |
PRAMEF8 | ENSG00000182330.11 | transcript | ENST00000357367.7 | protein_coding | 1048 | chr1 | TogoVar | ||||||
PRCP_chr11_82817936_82905430 | 82841053 | A | AATATATA others(34): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00621.hp2 HG00639.hp2 others(55): Show |
a0001a0002a0005 | a0001c0001a0002c0003a0005c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(3): Show | a0001c0001t0001g0019a0001c0001t0001g0033a0001c0001t0001g0048others(55): Show | 58 | 320 | 0.1813 | 41 | c.922 others(58): Show |
PRCP | ENSG00000137509.12 | transcript | ENST00000313010.8 | protein_coding | 6/8 | chr11 | TogoVar | ||||||
PRCP_chr11_82817936_82905430 | 82841053 | A | ATAATATA others(34): Show |
intron_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0086 | 1 | 320 | 0.0031 | 41 | c.922 others(58): Show |
PRCP | ENSG00000137509.12 | transcript | ENST00000313010.8 | protein_coding | 6/8 | chr11 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3111466 | T | TGGGGAGG others(34): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0169 | 1 | 210 | 0.0048 | 41 | c.37+ others(58): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRDM16_chr1_3064203_3443621 | 3111466 | T | TGGGGAGG others(34): Show |
intron_variant | MODIFIER | HG01255.hp1 HG04204.hp1 |
a0001 | a0001c0002a0001c0014 | a0001c0002t0071a0001c0014t0068 | a0001c0002t0071g0099a0001c0014t0068g0159 | 2 | 210 | 0.0095 | 41 | c.37+ others(58): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRDM16_chr1_3064203_3443621 | 3111466 | T | TGGGGAGG others(34): Show |
intron_variant | MODIFIER | HG01123.hp2 HG02055.hp1 |
a0001a0002 | a0001c0004a0002c0003 | a0001c0004t0025a0002c0003t0004 | a0001c0004t0025g0205a0002c0003t0004g0068 | 2 | 210 | 0.0095 | 41 | c.37+ others(58): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRELID3B_chr20_59028145_59047786 | 59047530 | C | CGATCCTC others(34): Show |
upstream_gene_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 | 1 | 412 | 0.0024 | 41 | c.-48 others(52): Show |
PRELID3B | ENSG00000101166.16 | transcript | ENST00000355937.9 | protein_coding | 4745 | chr20 | TogoVar | ||||||
PRKAG2_chr7_151551127_151882115 | 151855444 | A | ACACACCA others(34): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0210 | 1 | 252 | 0.0040 | 41 | c.114 others(60): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2142378 | C | CCTCCTTT others(34): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02155.hp2 HG02165.hp2 others(10): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001a0001c0004t0002 | a0001c0001t0001g0113a0001c0004t0001g0007a0001c0004t0001g0008others(10): Show | 13 | 286 | 0.0455 | 41 | c.421 others(58): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRKCZ_chr1_2045411_2190395 | 2142378 | C | CCTCCTTT others(34): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0046 | 1 | 286 | 0.0035 | 41 | c.421 others(58): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRKN_chr6_161342417_162732766 | 161350870 | A | AAATATAT others(34): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02976.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005a0001c0001t0002g0011a0001c0001t0002g0024 | 3 | 32 | 0.0938 | 41 | c.128 others(58): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 11/11 | chr6 | TogoVar | ||||||
PROKR2_chr20_5294218_5321954 | 5310658 | G | GACTTATG others(34): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(217): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(34): Show | a0001c0001t0001g0027a0001c0001t0002g0002a0001c0001t0002g0007others(72): Show | 220 | 424 | 0.5189 | 41 | c.458 others(58): Show |
PROKR2 | ENSG00000101292.8 | transcript | ENST00000678254.1 | protein_coding | 2/2 | chr20 | TogoVar | ||||||
PRORP_chr14_35117552_35282622 | 35172453 | C | CTTCCTTC others(34): Show |
intron_variant | MODIFIER | NA18950.hp1 NA18978.hp2 NA19089.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0181a0001c0002t0001g0254a0001c0002t0001g0268 | 3 | 314 | 0.0096 | 41 | c.116 others(60): Show |
PRORP | ENSG00000100890.16 | transcript | ENST00000534898.9 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PROZ_chr13_113153648_113177386 | 113162926 | A | ATTCCTGT others(34): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01109.hp2 HG01515.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0032a0001c0001t0001g0163 | 6 | 378 | 0.0159 | 41 | c.260 others(54): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PRPF31_chr19_54110754_54136713 | 54134028 | A | ACCTCCCC others(34): Show |
downstream_gene_variant | MODIFIER | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(8): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0002 | a0001c0001t0001g0016a0001c0001t0001g0025a0001c0001t0001g0060others(6): Show | 11 | 227 | 0.0485 | 41 | c.*25 others(52): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2316 | chr19 | TogoVar |