view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PMS2_chr7_5965925_6014049 | 6009974 | A | AAAAAATA others(11): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG02083.hp1 others(6): Show |
a0001a0002a0008 | a0001c0002a0001c0012a0002c0001others(1): Show | a0001c0002t0002a0001c0012t0002a0002c0001t0001others(3): Show | a0001c0002t0002g0209a0001c0002t0002g0227a0001c0002t0002g0229others(6): Show | 9 | 408 | 0.0221 | 18 | c.-95 others(27): Show |
PMS2 | ENSG00000122512.17 | transcript | ENST00000265849.12 | protein_coding | 926 | chr7 | TogoVar | |||||||
PMS2_chr7_5965925_6014049 | 6009974 | A | AAAATATA others(11): Show |
upstream_gene_variant | MODIFIER | HG00673.hp1 HG02074.hp1 HG02602.hp1 others(3): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0002a0002c0001t0001 | a0001c0002t0002g0271a0002c0001t0001g0122a0002c0001t0001g0125others(3): Show | 6 | 408 | 0.0147 | 18 | c.-95 others(27): Show |
PMS2 | ENSG00000122512.17 | transcript | ENST00000265849.12 | protein_coding | 926 | chr7 | TogoVar | |||||||
PMS2_chr7_5965925_6014049 | 6009974 | A | AATATATA others(11): Show |
upstream_gene_variant | MODIFIER | HG02735.hp2 NA19056.hp1 NA19087.hp2 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0161a0002c0001t0001g0166a0002c0001t0001g0282 | 3 | 408 | 0.0074 | 18 | c.-97 others(27): Show |
PMS2 | ENSG00000122512.17 | transcript | ENST00000265849.12 | protein_coding | 926 | chr7 | TogoVar | |||||||
PNISR_chr6_99393050_99430308 | 99419152 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01258.hp2 HG02647.hp2 HG04115.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0153a0001c0001t0002g0239a0001c0001t0002g0240 | 3 | 406 | 0.0074 | 18 | c.-11 others(37): Show |
PNISR | ENSG00000132424.17 | transcript | ENST00000369239.10 | protein_coding | 1/11 | chr6 | TogoVar | |||||||
PNKD_chr2_218265519_218351793 | 218315038 | T | TTCTTTCT others(11): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00621.hp1 others(43): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0051a0001c0001t0001g0052a0001c0001t0001g0059others(42): Show | 46 | 280 | 0.1643 | 18 | c.237 others(37): Show |
PNKD | ENSG00000127838.15 | transcript | ENST00000273077.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PNKD_chr2_218265519_218351793 | 218338226 | C | CGAGGCAG others(11): Show |
intron_variant | MODIFIER | NA18951.hp1 NA18967.hp2 NA19003.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0018a0001c0001t0001g0019 | 3 | 280 | 0.0107 | 18 | c.237 others(35): Show |
PNKD | ENSG00000127838.15 | transcript | ENST00000273077.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PNLIPRP1_chr10_116585959_116614175 | 116607020 | T | TTAATAAT others(11): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01070.hp2 HG01261.hp1 others(24): Show |
a0001a0005 | a0001c0002a0005c0018 | a0001c0002t0001a0005c0018t0001 | a0001c0002t0001g0010a0001c0002t0001g0011a0001c0002t0001g0025others(14): Show | 27 | 420 | 0.0643 | 18 | c.134 others(37): Show |
PNLIPRP1 | ENSG00000187021.15 | transcript | ENST00000358834.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PNLIP_chr10_116540931_116572855 | 116566950 | G | GTTCAGCC others(11): Show |
intron_variant | MODIFIER | NA19089.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0093 | 1 | 276 | 0.0036 | 18 | c.133 others(35): Show |
PNLIP | ENSG00000175535.6 | transcript | ENST00000369221.2 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PNMA6E_chrX_153390639_153406350 | 153395239 | T | TGCTATTG others(11): Show |
downstream_gene_variant | MODIFIER | HG01978.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 1 | 346 | 0.0029 | 18 | c.*16 others(29): Show |
PNMA6E | ENSG00000214897.5 | transcript | ENST00000445091.3 | protein_coding | 399 | chrX | TogoVar | |||||||
PNMA6E_chrX_153390639_153406350 | 153398131 | G | GCTCCTGC others(11): Show |
conservative_inframe_insertion | MODERATE | HG00408.hp1 HG02559.hp1 NA19002.hp1 others(2): Show |
a0005 | a0005c0005 | a0005c0005t0001a0005c0005t0003 | a0005c0005t0001g0070a0005c0005t0003g0023a0005c0005t0003g0073 | 5 | 346 | 0.0145 | 18 | c.701 others(25): Show |
p.Gly others(13): Show |
PNMA6E | ENSG00000214897.5 | transcript | ENST00000445091.3 | protein_coding | 2/2 | 896/3389 | 718/1944 | 240/647 | chrX | TogoVar | |||
PNMA6E_chrX_153390639_153406350 | 153398184 | A | ACCTCCTG others(11): Show |
disruptive_inframe_insertion | MODERATE | HG00597.hp2 HG00673.hp1 HG02074.hp1 others(8): Show |
a0004a0008 | a0004c0004a0008c0010 | a0004c0004t0001a0004c0004t0003a0004c0004t0006others(4): Show | a0004c0004t0001g0094a0004c0004t0003g0095a0004c0004t0006g0021others(5): Show | 11 | 346 | 0.0318 | 18 | c.648 others(25): Show |
p.Gly others(31): Show |
PNMA6E | ENSG00000214897.5 | transcript | ENST00000445091.3 | protein_coding | 2/2 | 843/3389 | 665/1944 | 222/647 | chrX | TogoVar | |||
PNMA6F_chrX_153312680_153326767 | 153316173 | A | ACACATTC others(11): Show |
downstream_gene_variant | MODIFIER | HG01168.hp2 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0021 | 1 | 331 | 0.0030 | 18 | c.*27 others(29): Show |
PNMA6F | ENSG00000225110.3 | transcript | ENST00000436629.3 | protein_coding | 1506 | chrX | TogoVar | |||||||
PNMA8A_chr19_46461503_46476563 | 46473260 | G | GTTTTTTT others(11): Show |
upstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0002 | 1 | 454 | 0.0022 | 18 | c.-20 others(29): Show |
PNMA8A | ENSG00000182013.18 | transcript | ENST00000313683.15 | protein_coding | 1698 | chr19 | TogoVar | |||||||
PNMA8A_chr19_46461503_46476563 | 46475170 | C | CAAAAAAA others(11): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0019a0001c0002t0003a0001c0002t0007others(1): Show | a0001c0001t0019g0029a0001c0002t0003g0002a0001c0002t0007g0007others(2): Show | 8 | 454 | 0.0176 | 18 | c.-39 others(29): Show |
PNMA8A | ENSG00000182013.18 | transcript | ENST00000313683.15 | protein_coding | 3608 | chr19 | TogoVar | |||||||
PNN_chr14_39170254_39188220 | 39172284 | G | GGTGTGTG others(11): Show |
upstream_gene_variant | MODIFIER | HG01928.hp1 HG01934.hp2 HG01981.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0002t0003others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0015a0001c0001t0001g0065others(7): Show | 14 | 444 | 0.0315 | 18 | c.-29 others(29): Show |
PNN | ENSG00000100941.9 | transcript | ENST00000216832.9 | protein_coding | 2969 | chr14 | TogoVar | |||||||
PNN_chr14_39170254_39188220 | 39187618 | C | CAAAAAAA others(11): Show |
downstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 444 | 0.0023 | 18 | c.*57 others(29): Show |
PNN | ENSG00000100941.9 | transcript | ENST00000216832.9 | protein_coding | 4399 | chr14 | TogoVar | |||||||
PNOC_chr8_28312268_28348351 | 28330396 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 424 | 0.0024 | 18 | c.126 others(35): Show |
PNOC | ENSG00000168081.9 | transcript | ENST00000301908.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PNOC_chr8_28312268_28348351 | 28330398 | T | TTTATTTT others(11): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0269 | 1 | 424 | 0.0024 | 18 | c.126 others(35): Show |
PNOC | ENSG00000168081.9 | transcript | ENST00000301908.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PNOC_chr8_28312268_28348351 | 28330400 | T | TATTTTTT others(11): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01123.hp2 HG01167.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061a0001c0001t0001g0071a0001c0001t0001g0072others(5): Show | 8 | 424 | 0.0189 | 18 | c.126 others(35): Show |
PNOC | ENSG00000168081.9 | transcript | ENST00000301908.8 | protein_coding | 2/3 | chr8 | TogoVar | |||||||
PNPLA1_chr6_36265060_36318955 | 36282082 | A | AAAGAAAG others(11): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0175 | 1 | 386 | 0.0026 | 18 | c.206 others(35): Show |
PNPLA1 | ENSG00000180316.13 | transcript | ENST00000636260.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PNPLA1_chr6_36265060_36318955 | 36300161 | T | TTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02572.hp1 NA18952.hp1 others(3): Show |
a0001a0004a0006others(1): Show | a0001c0003a0004c0007a0004c0008others(2): Show | a0001c0003t0002a0004c0007t0003a0004c0008t0003others(3): Show | a0001c0003t0002g0385a0004c0007t0003g0010a0004c0008t0003g0324others(3): Show | 6 | 386 | 0.0155 | 18 | c.776 others(35): Show |
PNPLA1 | ENSG00000180316.13 | transcript | ENST00000636260.2 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PNPLA1_chr6_36265060_36318955 | 36300178 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0207 | 1 | 386 | 0.0026 | 18 | c.776 others(35): Show |
PNPLA1 | ENSG00000180316.13 | transcript | ENST00000636260.2 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PNPLA1_chr6_36265060_36318955 | 36300178 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0361 | 1 | 386 | 0.0026 | 18 | c.776 others(35): Show |
PNPLA1 | ENSG00000180316.13 | transcript | ENST00000636260.2 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PNPLA4_chrX_7893247_7932413 | 7893818 | G | GGTACCCT others(11): Show |
downstream_gene_variant | MODIFIER | NA19089.hp1 | a0000 | a0000c0005 | a0000c0005t0079 | a0000c0005t0079g0195 | 1 | 338 | 0.0030 | 18 | c.*68 others(29): Show |
PNPLA4 | ENSG00000006757.12 | transcript | ENST00000381042.9 | protein_coding | 4428 | chrX | TogoVar | |||||||
PNPLA4_chrX_7893247_7932413 | 7899626 | C | CCAGAGAG others(11): Show |
3_prime_UTR_variant | MODIFIER | HG01192.hp1 HG02135.hp1 HG06807.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0041a0001c0001t0013g0151a0001c0001t0013g0181others(1): Show | 5 | 338 | 0.0148 | 18 | c.*10 others(29): Show |
PNPLA4 | ENSG00000006757.12 | transcript | ENST00000381042.9 | protein_coding | 7/7 | 1059 | chrX | TogoVar | ||||||
PNPLA7_chr9_137454952_137555402 | 137475010 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02723.hp1 NA20129.hp1 |
a0016a0035 | a0016c0017a0035c0056 | a0016c0017t0004a0035c0056t0001 | a0016c0017t0004g0053a0035c0056t0001g0093 | 2 | 188 | 0.0106 | 18 | c.288 others(37): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 25/34 | chr9 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137503440 | G | GGGGGAAG others(11): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0016 | a0002c0016t0001 | a0002c0016t0001g0173 | 1 | 188 | 0.0053 | 18 | c.147 others(37): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137544352 | C | CCTGCTGC others(11): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0028 | a0028c0034 | a0028c0034t0001 | a0028c0034t0001g0077 | 1 | 188 | 0.0053 | 18 | c.274 others(33): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 4/34 | chr9 | TogoVar | |||||||
PNPLA8_chr7_108465417_108531135 | 108467746 | A | AAAAAAAA others(11): Show |
downstream_gene_variant | MODIFIER | HG02615.hp1 HG02818.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0135a0001c0001t0005g0137a0001c0001t0005g0138 | 3 | 390 | 0.0077 | 18 | c.*46 others(29): Show |
PNPLA8 | ENSG00000135241.17 | transcript | ENST00000257694.13 | protein_coding | 2670 | chr7 | TogoVar | |||||||
PNPT1_chr2_55629061_55698844 | 55650141 | C | CACCTCTA others(11): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02630.hp2 HG02886.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0217a0002c0002t0002g0226a0002c0002t0002g0227others(5): Show | 8 | 390 | 0.0205 | 18 | c.149 others(37): Show |
PNPT1 | ENSG00000138035.15 | transcript | ENST00000447944.7 | protein_coding | 18/27 | chr2 | TogoVar | |||||||
PNPT1_chr2_55629061_55698844 | 55691878 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 390 | 0.0026 | 18 | c.161 others(35): Show |
PNPT1 | ENSG00000138035.15 | transcript | ENST00000447944.7 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
PNPT1_chr2_55629061_55698844 | 55691878 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0115 | 1 | 390 | 0.0026 | 18 | c.161 others(35): Show |
PNPT1 | ENSG00000138035.15 | transcript | ENST00000447944.7 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
PNPT1_chr2_55629061_55698844 | 55695278 | T | TAAAAAAA others(11): Show |
upstream_gene_variant | MODIFIER | HG02622.hp1 HG02622.hp2 homoSapiens_chm13v2.hp1 |
a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0079a0003c0003t0004g0080a0003c0003t0004g0098 | 3 | 390 | 0.0077 | 18 | c.-14 others(29): Show |
PNPT1 | ENSG00000138035.15 | transcript | ENST00000447944.7 | protein_coding | 1435 | chr2 | TogoVar | |||||||
POC1B_chr12_89414718_89531047 | 89503078 | T | TCTATCCC others(11): Show |
intron_variant | MODIFIER | HG02615.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114a0001c0001t0001g0305 | 2 | 370 | 0.0054 | 18 | c.101 others(35): Show |
POC1B | ENSG00000139323.14 | transcript | ENST00000313546.8 | protein_coding | 2/11 | chr12 | TogoVar | |||||||
PODXL_chr7_131495271_131561628 | 131499777 | T | TTGTTTTT others(11): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 HG01361.hp2 HG02135.hp1 others(5): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0015a0003c0031others(3): Show | a0001c0001t0003a0002c0015t0002a0003c0031t0003others(3): Show | a0001c0001t0003g0157a0002c0015t0002g0311a0003c0031t0003g0205others(5): Show | 8 | 440 | 0.0182 | 18 | c.*45 others(29): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 493 | chr7 | TogoVar | |||||||
PODXL_chr7_131495271_131561628 | 131499780 | C | CATATATA others(11): Show |
downstream_gene_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0182 | 1 | 440 | 0.0023 | 18 | c.*45 others(29): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 490 | chr7 | TogoVar | |||||||
PODXL_chr7_131495271_131561628 | 131499780 | C | CATATATA others(11): Show |
downstream_gene_variant | MODIFIER | HG02630.hp1 HG02886.hp2 |
a0002a0026 | a0002c0003a0026c0042 | a0002c0003t0011a0026c0042t0001 | a0002c0003t0011g0305a0026c0042t0001g0026 | 2 | 440 | 0.0046 | 18 | c.*45 others(29): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 490 | chr7 | TogoVar | |||||||
PODXL_chr7_131495271_131561628 | 131499820 | T | TATATATA others(11): Show |
downstream_gene_variant | MODIFIER | NA19030.hp2 | a0015 | a0015c0036 | a0015c0036t0001 | a0015c0036t0001g0008 | 1 | 440 | 0.0023 | 18 | c.*44 others(29): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 450 | chr7 | TogoVar | |||||||
PODXL_chr7_131495271_131561628 | 131524379 | C | CACACACA others(11): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0011 | a0011c0027 | a0011c0027t0007 | a0011c0027t0007g0047 | 1 | 440 | 0.0023 | 18 | c.101 others(37): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
PODXL_chr7_131495271_131561628 | 131524379 | C | CACACACA others(11): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01081.hp1 HG01515.hp2 others(3): Show |
a0002a0013a0016 | a0002c0003a0013c0025a0016c0035 | a0002c0003t0002a0013c0025t0009a0016c0035t0009 | a0002c0003t0002g0218a0013c0025t0009g0073a0013c0025t0009g0098others(3): Show | 6 | 440 | 0.0136 | 18 | c.101 others(37): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
PODXL_chr7_131495271_131561628 | 131524379 | C | CACACACA others(11): Show |
intron_variant | MODIFIER | HG02148.hp2 HG03139.hp2 HG03831.hp1 others(1): Show |
a0001a0003a0017 | a0001c0001a0001c0020a0003c0031others(1): Show | a0001c0001t0003a0001c0020t0039a0003c0031t0001others(1): Show | a0001c0001t0003g0175a0001c0020t0039g0132a0003c0031t0001g0231others(1): Show | 4 | 440 | 0.0091 | 18 | c.101 others(37): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
PODXL_chr7_131495271_131561628 | 131524379 | C | CACACAGA others(11): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01175.hp1 HG02004.hp1 others(3): Show |
a0001a0003a0004 | a0001c0001a0003c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0003c0002t0001others(1): Show | a0001c0001t0001g0161a0001c0001t0003g0157a0003c0002t0001g0212others(3): Show | 6 | 440 | 0.0136 | 18 | c.101 others(37): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
PODXL_chr7_131495271_131561628 | 131524379 | C | CACAGAGA others(11): Show |
intron_variant | MODIFIER | HG02698.hp1 NA18950.hp2 NA19062.hp1 |
a0002 | a0002c0003a0002c0054 | a0002c0003t0002a0002c0054t0002 | a0002c0003t0002g0193a0002c0003t0002g0239a0002c0054t0002g0238 | 3 | 440 | 0.0068 | 18 | c.101 others(37): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
PODXL_chr7_131495271_131561628 | 131524379 | C | CAGAGAGA others(11): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG02698.hp2 |
a0002a0005a0006 | a0002c0003a0005c0006a0006c0007 | a0002c0003t0037a0005c0006t0002a0006c0007t0002 | a0002c0003t0037g0211a0005c0006t0002g0397a0006c0007t0002g0135 | 3 | 440 | 0.0068 | 18 | c.101 others(37): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
PODXL_chr7_131495271_131561628 | 131556667 | G | GGCCCCCG others(11): Show |
upstream_gene_variant | MODIFIER | HG03579.hp1 NA20300.hp1 NA21309.hp2 |
a0002a0005a0017 | a0002c0012a0005c0019a0017c0028 | a0002c0012t0014a0005c0019t0001a0017c0028t0029 | a0002c0012t0014g0315a0005c0019t0001g0054a0017c0028t0029g0050 | 3 | 440 | 0.0068 | 18 | c.-32 others(27): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 40 | chr7 | TogoVar | |||||||
PODXL_chr7_131495271_131561628 | 131558478 | A | ATATATAT others(11): Show |
upstream_gene_variant | MODIFIER | HG02895.hp2 | a0009 | a0009c0014 | a0009c0014t0010 | a0009c0014t0010g0028 | 1 | 440 | 0.0023 | 18 | c.-21 others(29): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 1851 | chr7 | TogoVar | |||||||
POF1B_chrX_85272396_85384665 | 85360527 | G | GTGTATAT others(11): Show |
intron_variant | MODIFIER | NA19011.hp2 NA20905.hp1 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0196a0001c0002t0004g0197 | 2 | 227 | 0.0088 | 18 | c.358 others(33): Show |
POF1B | ENSG00000124429.18 | transcript | ENST00000262753.9 | protein_coding | 3/16 | chrX | TogoVar | |||||||
POGLUT1_chr3_119463963_119499708 | 119495225 | C | CAAAAAAA others(11): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG01109.hp2 HG01934.hp2 |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0017 | a0001c0001t0013g0177a0001c0001t0013g0178a0001c0001t0017g0005 | 3 | 422 | 0.0071 | 18 | c.*27 others(29): Show |
POGLUT1 | ENSG00000163389.12 | transcript | ENST00000295588.9 | protein_coding | 518 | chr3 | TogoVar | |||||||
POLA1_chrX_24688918_25001986 | 24757436 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03225.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0028a0001c0001t0001g0059a0001c0001t0007g0060 | 3 | 197 | 0.0152 | 18 | c.296 others(37): Show |
POLA1 | ENSG00000101868.13 | transcript | ENST00000379068.8 | protein_coding | 26/36 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
POLA1_chrX_24688918_25001986 | 24801916 | G | GGTGTGTG others(11): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 197 | 0.0051 | 18 | c.296 others(37): Show |
POLA1 | ENSG00000101868.13 | transcript | ENST00000379068.8 | protein_coding | 26/36 | INFO_REALIGN_3_PRIME | chrX | TogoVar |