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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OR52E6_chr11_5835928_5846897 | 5844253 | T | TATATTAT others(212): Show |
upstream_gene_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 450 | 0.0022 | 219 | c.-23 others(230): Show |
OR52E6 | ENSG00000205409.3 | transcript | ENST00000329322.5 | protein_coding | 2357 | chr11 | TogoVar | |||||||
PASD1_chrX_151558675_151681739 | 151562909 | G | GGTGGGGC others(212): Show |
upstream_gene_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 221 | 0.0045 | 219 | c.-95 others(228): Show |
PASD1 | ENSG00000166049.11 | transcript | ENST00000370357.5 | protein_coding | 765 | chrX | TogoVar | |||||||
PAWR_chr12_79579879_79695964 | 79639879 | C | CCATTCCA others(212): Show |
intron_variant | MODIFIER | NA18985.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0207 | 1 | 256 | 0.0039 | 219 | c.517 others(238): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 2/6 | chr12 | TogoVar | |||||||
PAX1_chr20_21700664_21723481 | 21721583 | T | TACATATA others(212): Show |
downstream_gene_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0026 a0001c0002t0002g0026 |
2 | 400 | 0.0050 | 219 | c.*70 others(230): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3103 | chr20 | TogoVar | |||||||
PCGF3_chr4_700832_775089 | 707511 | A | ACCTGGGG others(212): Show |
intron_variant | MODIFIER | HG01069.hp1 HG02257.hp2 HG02451.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0036 | a0001c0001t0011g0072 a0001c0001t0011g0073 a0001c0001t0011g0111 others(2): Show |
5 | 366 | 0.0137 | 219 | c.-19 others(238): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCGF3_chr4_700832_775089 | 707567 | G | GGACAGCT others(212): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02886.hp1 HG03453.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0007a0002c0002t0016 | a0001c0001t0007g0071 a0001c0001t0007g0079 a0002c0002t0016g0076 others(2): Show |
5 | 366 | 0.0137 | 219 | c.-19 others(238): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCGF3_chr4_700832_775089 | 714971 | G | GCTGTGAG others(212): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00544.hp1 others(51): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0007 a0001c0001t0001g0051 a0001c0001t0001g0052 others(51): Show |
54 | 366 | 0.1475 | 219 | c.-19 others(238): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCGF3_chr4_700832_775089 | 714971 | G | GCTGTGAG others(212): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01256.hp1 HG01496.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0003a0002c0002t0053 | a0001c0001t0003g0065 a0002c0002t0003g0060 a0002c0002t0003g0061 others(5): Show |
8 | 366 | 0.0219 | 219 | c.-19 others(238): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCGF3_chr4_700832_775089 | 714971 | G | GCTGTGAG others(212): Show |
intron_variant | MODIFIER | HG01109.hp2 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0061a0001c0001t0063 | a0001c0001t0061g0006 a0001c0001t0063g0075 |
2 | 366 | 0.0055 | 219 | c.-19 others(238): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCGF3_chr4_700832_775089 | 714996 | G | GGTGCTGG others(212): Show |
intron_variant | MODIFIER | HG02965.hp2 HG02976.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0027a0001c0001t0038a0001c0001t0052 | a0001c0001t0027g0009 a0001c0001t0038g0010 a0001c0001t0052g0037 |
3 | 366 | 0.0082 | 219 | c.-19 others(238): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCGF3_chr4_700832_775089 | 715665 | C | CTAGACAC others(212): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0247 | 1 | 366 | 0.0027 | 219 | c.-19 others(238): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCSK6_chr15_101298933_101494707 | 101493369 | T | TTCCCTCC others(212): Show |
upstream_gene_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0177 | 1 | 336 | 0.0030 | 219 | c.-37 others(230): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 3663 | chr15 | TogoVar | |||||||
PCSK6_chr15_101298933_101494707 | 101493369 | T | TTCCCTCC others(212): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(80): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0002a0001c0003others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(34): Show | a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0182 others(80): Show |
83 | 336 | 0.2470 | 219 | c.-37 others(230): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 3663 | chr15 | TogoVar | |||||||
PCSK6_chr15_101298933_101494707 | 101493369 | T | TTCCCTCC others(212): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 HG02257.hp1 HG03139.hp1 others(2): Show |
a0002 | a0002c0016a0002c0032 | a0002c0016t0001a0002c0032t0003 | a0002c0016t0001g0010 a0002c0016t0001g0011 a0002c0016t0001g0012 others(2): Show |
5 | 336 | 0.0149 | 219 | c.-37 others(230): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 3663 | chr15 | TogoVar | |||||||
PCSK6_chr15_101298933_101494707 | 101493369 | T | TTCCCTCC others(212): Show |
upstream_gene_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0221 | 1 | 336 | 0.0030 | 219 | c.-37 others(230): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 3663 | chr15 | TogoVar | |||||||
PDIA6_chr2_10778391_10817785 | 10806628 | C | CGAAAGAA others(212): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0214 | 1 | 342 | 0.0029 | 219 | c.20- others(234): Show |
PDIA6 | ENSG00000143870.13 | transcript | ENST00000272227.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
PDXK_chr21_43714129_43767299 | 43741280 | G | GGGGGGCT others(212): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0035 | 1 | 358 | 0.0028 | 219 | c.143 others(234): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PERM1_chr1_970198_987093 | 977476 | C | CCAACCCC others(212): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 408 | 0.0025 | 219 | c.215 others(236): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
PFKP_chr10_3062548_3141802 | 3106725 | G | GCCCCTCT others(212): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02559.hp2 HG02647.hp1 |
a0001 | a0001c0014a0001c0017 | a0001c0014t0006a0001c0017t0011 | a0001c0014t0006g0213 a0001c0014t0006g0390 a0001c0017t0011g0003 |
3 | 402 | 0.0075 | 219 | c.775 others(234): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PIAS4_chr19_4002736_4044386 | 4011673 | G | GGGGGTGT others(212): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0171 | 1 | 334 | 0.0030 | 219 | c.28- others(234): Show |
PIAS4 | ENSG00000105229.7 | transcript | ENST00000262971.3 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PIAS4_chr19_4002736_4044386 | 4011690 | T | TTTGGTGT others(212): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0004 | a0001c0004t0012 | a0001c0004t0012g0245 | 1 | 334 | 0.0030 | 219 | c.28- others(234): Show |
PIAS4 | ENSG00000105229.7 | transcript | ENST00000262971.3 | protein_coding | 1/10 | chr19 | TogoVar | |||||||
PIGZ_chr3_196941356_196973833 | 196948997 | T | TTCCCCTC others(212): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0004 | a0004c0008 | a0004c0008t0002 | a0004c0008t0002g0058 | 1 | 424 | 0.0024 | 219 | c.212 others(234): Show |
PIGZ | ENSG00000119227.8 | transcript | ENST00000412723.6 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
PLAC1_chrX_134560838_134663471 | 134655412 | T | TCAGAATG others(212): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 252 | 0.0040 | 219 | c.-13 others(238): Show |
PLAC1 | ENSG00000170965.10 | transcript | ENST00000359237.9 | protein_coding | 1/2 | chrX | TogoVar | |||||||
PRDM16_chr1_3064203_3443621 | 3176152 | T | TATCCATC others(212): Show |
intron_variant | MODIFIER | HG01109.hp1 HG03579.hp2 NA20129.hp1 |
a0001a0002 | a0001c0001a0001c0017a0002c0003 | a0001c0001t0072a0001c0017t0054a0002c0003t0007 | a0001c0001t0072g0008 a0001c0017t0054g0134 a0002c0003t0007g0103 |
3 | 210 | 0.0143 | 219 | c.38- others(234): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKCB_chr16_23830983_24225611 | 23982104 | T | TCCCTTCC others(212): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0034 | 1 | 148 | 0.0068 | 219 | c.206 others(236): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2123485 | G | GTCATGGT others(212): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02080.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0096 a0001c0002t0001g0100 |
2 | 286 | 0.0070 | 219 | c.335 others(238): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2123556 | G | GGCTGTAG others(212): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0110 | 1 | 286 | 0.0035 | 219 | c.335 others(238): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKN_chr6_161342417_162732766 | 161436029 | A | AGGGATGG others(212): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008 | a0001c0001t0003g0021 a0001c0001t0008g0010 |
2 | 32 | 0.0625 | 219 | c.108 others(240): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 9/11 | chr6 | TogoVar | |||||||
PTPRG_chr3_61556571_62302609 | 61885680 | T | TCCTCTCC others(212): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 94 | 0.0106 | 219 | c.191 others(240): Show |
PTPRG | ENSG00000144724.20 | transcript | ENST00000474889.6 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 492383 | C | CCCAGAGC others(212): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0060 | a0001c0001t0060g0108 | 1 | 295 | 0.0034 | 219 | c.126 others(238): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB40B_chr17_82649973_82703698 | 82671892 | C | CCTCACCC others(212): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0028 | a0001c0001t0002g0059 a0001c0001t0028g0049 |
2 | 338 | 0.0059 | 219 | c.143 others(236): Show |
RAB40B | ENSG00000141542.11 | transcript | ENST00000571995.6 | protein_coding | 1/5 | chr17 | TogoVar | |||||||
RAB40C_chr16_585066_634268 | 632057 | A | ACTCCTCC others(212): Show |
downstream_gene_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0253 | 1 | 350 | 0.0029 | 219 | c.*44 others(230): Show |
RAB40C | ENSG00000197562.10 | transcript | ENST00000248139.8 | protein_coding | 2790 | chr16 | TogoVar | |||||||
RBCK1_chr20_403299_437139 | 420665 | G | GCCCACCC others(212): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01074.hp2 HG01516.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0078 a0001c0001t0003g0094 a0001c0001t0003g0221 others(4): Show |
7 | 452 | 0.0155 | 219 | c.757 others(234): Show |
RBCK1 | ENSG00000125826.22 | transcript | ENST00000356286.10 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RBCK1_chr20_403299_437139 | 420665 | G | GCCCACCC others(212): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 452 | 0.0022 | 219 | c.757 others(234): Show |
RBCK1 | ENSG00000125826.22 | transcript | ENST00000356286.10 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RBCK1_chr20_403299_437139 | 420669 | A | ACCCCATC others(212): Show |
intron_variant | MODIFIER | NA18951.hp2 NA18959.hp2 NA18967.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 others(3): Show |
6 | 452 | 0.0133 | 219 | c.757 others(234): Show |
RBCK1 | ENSG00000125826.22 | transcript | ENST00000356286.10 | protein_coding | 6/11 | chr20 | TogoVar | |||||||
RNASE10_chr14_20500537_20518884 | 20505318 | C | CCCTCTCC others(212): Show |
upstream_gene_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 396 | 0.0025 | 219 | c.-70 others(228): Show |
RNASE10 | ENSG00000182545.7 | transcript | ENST00000430083.2 | protein_coding | 218 | chr14 | TogoVar | |||||||
RNF223_chr1_1065967_1079306 | 1078397 | T | TGGGGACT others(212): Show |
upstream_gene_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 324 | 0.0031 | 219 | c.-43 others(230): Show |
RNF223 | ENSG00000237330.3 | transcript | ENST00000453464.3 | protein_coding | 4092 | chr1 | TogoVar | |||||||
RPA3_chr7_7631518_7723607 | 7679474 | T | TTATATAT others(212): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02970.hp1 HG03225.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0008 a0001c0001t0001g0077 a0001c0001t0001g0134 others(2): Show |
5 | 308 | 0.0162 | 219 | c.-75 others(238): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
RTN4IP1_chr6_106565771_106634498 | 106589237 | G | GGAGGAGG others(212): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0003 | a0003c0012 | a0003c0012t0002 | a0003c0012t0002g0091 | 1 | 396 | 0.0025 | 219 | c.807 others(236): Show |
RTN4IP1 | ENSG00000130347.13 | transcript | ENST00000369063.8 | protein_coding | 6/8 | chr6 | TogoVar | |||||||
RTP5_chr2_241864729_241878823 | 241877980 | C | CCCCATCC others(212): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 | a0005 | a0005c0005 | a0005c0005t0005 | a0005c0005t0005g0005 | 1 | 365 | 0.0027 | 219 | c.*47 others(230): Show |
RTP5 | ENSG00000188011.5 | transcript | ENST00000343216.3 | protein_coding | 4158 | chr2 | TogoVar | |||||||
SCGB1C1_chr11_188078_199575 | 196530 | G | GGGGACAT others(212): Show |
downstream_gene_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 1 | 354 | 0.0028 | 219 | c.*20 others(230): Show |
SCGB1C1 | ENSG00000188076.3 | transcript | ENST00000342878.3 | protein_coding | 1956 | chr11 | TogoVar | |||||||
SCNN1D_chr1_1275436_1297025 | 1284177 | T | TTGGGTGA others(212): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0095 | 1 | 290 | 0.0035 | 219 | c.464 others(232): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1288457 | C | CCGTGTCT others(212): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0063 | 1 | 290 | 0.0035 | 219 | c.166 others(236): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SEL1L2_chr20_13844247_13995614 | 13848511 | G | GGAAGAAG others(212): Show |
downstream_gene_variant | MODIFIER | NA18950.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0199 | 1 | 324 | 0.0031 | 219 | c.*97 others(228): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 735 | chr20 | TogoVar | |||||||
SEPTIN9_chr17_77276499_77505593 | 77484827 | T | TGGTGGTG others(212): Show |
intron_variant | MODIFIER | HG02897.hp1 NA19043.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0012a0002c0002t0042 | a0001c0001t0012g0113 a0002c0002t0042g0032 |
2 | 150 | 0.0133 | 219 | c.913 others(236): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77314518_77505593 | 77484827 | T | TGGTGGTG others(212): Show |
intron_variant | MODIFIER | HG02897.hp1 NA19043.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0010a0002c0002t0026 | a0001c0001t0010g0093 a0002c0002t0026g0118 |
2 | 158 | 0.0127 | 219 | c.859 others(236): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SERPINF2_chr17_1737871_1760265 | 1742010 | G | GAGCCTGA others(212): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(196): Show |
a0001a0005a0006others(3): Show | a0001c0001a0001c0005a0001c0011others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0008 a0001c0001t0001g0109 a0001c0001t0001g0131 others(90): Show |
199 | 445 | 0.4472 | 219 | c.-90 others(228): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 860 | chr17 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1742010 | G | GAGCCTGA others(212): Show |
upstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0194 | 1 | 445 | 0.0023 | 219 | c.-90 others(228): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 860 | chr17 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1742011 | G | AGCCTGAT others(212): Show |
upstream_gene_variant | MODIFIER | NA18952.hp2 NA18980.hp2 NA19088.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0184 |
3 | 445 | 0.0067 | 219 | c.-90 others(228): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 860 | chr17 | TogoVar | |||||||
SHISA9_chr16_12896598_13245416 | 13015951 | T | TTTCCCTT others(212): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0066 | a0001c0001t0066g0076 | 1 | 214 | 0.0047 | 219 | c.691 others(238): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |