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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NOXA1_chr9_137418393_137439406 | 137436339 | G | GGCCGGAT others(201): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 375 | 0.0027 | 208 | c.*19 others(219): Show |
NOXA1 | ENSG00000188747.9 | transcript | ENST00000683555.1 | protein_coding | 1934 | chr9 | TogoVar | |||||||
NPIPB13_chr16_30217897_30253479 | 30225303 | C | CGCTGAGG others(201): Show |
frameshift_variant | HIGH | HG01255.hp2 | a0022 | a0022c0027 | a0022c0027t0002 | a0022c0027t0002g0131 | 1 | 144 | 0.0069 | 208 | c.114 others(217): Show |
p.Asp others(5): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 8/8 | 3885/6292 | 1142/3417 | 381/1138 | chr16 | TogoVar | |||
NPSR1_chr7_34653218_34854978 | 34792665 | T | TTATATAT others(201): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0007 | a0007c0012 | a0007c0012t0001 | a0007c0012t0001g0053 | 1 | 172 | 0.0058 | 208 | c.384 others(227): Show |
NPSR1 | ENSG00000187258.14 | transcript | ENST00000360581.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
NUTM2F_chr9_94313198_94333644 | 94313318 | A | ATAATATA others(201): Show |
downstream_gene_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 213 | 0.0047 | 208 | c.*51 others(219): Show |
NUTM2F | ENSG00000130950.15 | transcript | ENST00000253262.9 | protein_coding | 4879 | chr9 | TogoVar | |||||||
NUTM2F_chr9_94313198_94333644 | 94313356 | T | TATATAAT others(201): Show |
downstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 298 | 0.0034 | 208 | c.*51 others(219): Show |
NUTM2F | ENSG00000130950.15 | transcript | ENST00000253262.9 | protein_coding | 4841 | chr9 | TogoVar | |||||||
OLA1_chr2_174067447_174253532 | 174164348 | A | AATACCAT others(201): Show |
intron_variant | MODIFIER | HG02486.hp1 HG03041.hp2 HG03098.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0008a0001c0001t0009others(1): Show | a0001c0001t0005g0257 a0001c0001t0008g0109 a0001c0001t0009g0016 others(2): Show |
5 | 84 | 0.0595 | 208 | c.374 others(227): Show |
OLA1 | ENSG00000138430.16 | transcript | ENST00000284719.8 | protein_coding | 4/10 | chr2 | TogoVar | |||||||
OR4K2_chr14_19870142_19888932 | 19872471 | A | ATATATAT others(201): Show |
upstream_gene_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0001 | 1 | 193 | 0.0052 | 208 | c.-36 others(219): Show |
OR4K2 | ENSG00000165762.3 | transcript | ENST00000641885.1 | protein_coding | 2670 | chr14 | TogoVar | |||||||
ORC5_chr7_104121341_104213013 | 104124116 | A | AGACAGTA others(201): Show |
downstream_gene_variant | MODIFIER | HG02970.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0099 | 1 | 31 | 0.0323 | 208 | c.*27 others(219): Show |
ORC5 | ENSG00000164815.11 | transcript | ENST00000297431.9 | protein_coding | 2224 | chr7 | TogoVar | |||||||
ORC5_chr7_104121341_104213013 | 104124116 | A | AGACAGTA others(201): Show |
downstream_gene_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0278 | 1 | 31 | 0.0323 | 208 | c.*27 others(219): Show |
ORC5 | ENSG00000164815.11 | transcript | ENST00000297431.9 | protein_coding | 2224 | chr7 | TogoVar | |||||||
ORC5_chr7_104121341_104213013 | 104124116 | A | AGACAGTA others(201): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(98): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0010 others(93): Show |
101 | 131 | 0.7710 | 208 | c.*27 others(219): Show |
ORC5 | ENSG00000164815.11 | transcript | ENST00000297431.9 | protein_coding | 2224 | chr7 | TogoVar | |||||||
PALD1_chr10_70473767_70573450 | 70554954 | C | CCCCTCCC others(201): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0017 | a0017c0025 | a0017c0025t0002 | a0017c0025t0002g0039 | 1 | 169 | 0.0059 | 208 | c.226 others(227): Show |
PALD1 | ENSG00000107719.10 | transcript | ENST00000263563.7 | protein_coding | 18/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PCDHGA1_chr5_141325514_141517975 | 141407491 | A | ATTTCTGT others(201): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0206 | 1 | 244 | 0.0041 | 208 | c.242 others(229): Show |
PCDHGA1 | ENSG00000204956.6 | transcript | ENST00000517417.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGA1_chr5_141325514_141517975 | 141407491 | A | ATTTCTGT others(201): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0248 | 1 | 244 | 0.0041 | 208 | c.242 others(229): Show |
PCDHGA1 | ENSG00000204956.6 | transcript | ENST00000517417.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGA2_chr5_141333760_141517975 | 141407491 | A | ATTTCTGT others(201): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 248 | 0.0040 | 208 | c.242 others(229): Show |
PCDHGA2 | ENSG00000081853.15 | transcript | ENST00000394576.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGA2_chr5_141333760_141517975 | 141407491 | A | ATTTCTGT others(201): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 248 | 0.0040 | 208 | c.242 others(229): Show |
PCDHGA2 | ENSG00000081853.15 | transcript | ENST00000394576.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGA3_chr5_141338829_141517975 | 141407491 | A | ATTTCTGT others(201): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0256 | 1 | 246 | 0.0041 | 208 | c.242 others(229): Show |
PCDHGA3 | ENSG00000254245.3 | transcript | ENST00000253812.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGA3_chr5_141338829_141517975 | 141407491 | A | ATTTCTGT others(201): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0047 | 1 | 246 | 0.0041 | 208 | c.242 others(229): Show |
PCDHGA3 | ENSG00000254245.3 | transcript | ENST00000253812.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGA4_chr5_141350021_141517975 | 141407491 | A | ATTTCTGT others(201): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 250 | 0.0040 | 208 | c.251 others(229): Show |
PCDHGA4 | ENSG00000262576.3 | transcript | ENST00000571252.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGA4_chr5_141350021_141517975 | 141407491 | A | ATTTCTGT others(201): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0248 | 1 | 250 | 0.0040 | 208 | c.251 others(229): Show |
PCDHGA4 | ENSG00000262576.3 | transcript | ENST00000571252.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGA5_chr5_141359162_141517975 | 141407491 | A | ATTTCTGT others(201): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 268 | 0.0037 | 208 | c.242 others(229): Show |
PCDHGA5 | ENSG00000253485.3 | transcript | ENST00000518069.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGA5_chr5_141359162_141517975 | 141407491 | A | ATTTCTGT others(201): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0129 | 1 | 268 | 0.0037 | 208 | c.242 others(229): Show |
PCDHGA5 | ENSG00000253485.3 | transcript | ENST00000518069.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGA6_chr5_141368891_141517975 | 141407491 | A | ATTTCTGT others(201): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0061 | 1 | 268 | 0.0037 | 208 | c.242 others(229): Show |
PCDHGA6 | ENSG00000253731.3 | transcript | ENST00000517434.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGA6_chr5_141368891_141517975 | 141407491 | A | ATTTCTGT others(201): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0286 | 1 | 268 | 0.0037 | 208 | c.242 others(229): Show |
PCDHGA6 | ENSG00000253731.3 | transcript | ENST00000517434.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGA7_chr5_141377742_141517975 | 141407491 | A | ATTTCTGT others(201): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 268 | 0.0037 | 208 | c.242 others(229): Show |
PCDHGA7 | ENSG00000253537.3 | transcript | ENST00000518325.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGA7_chr5_141377742_141517975 | 141407491 | A | ATTTCTGT others(201): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0265 | 1 | 268 | 0.0037 | 208 | c.242 others(229): Show |
PCDHGA7 | ENSG00000253537.3 | transcript | ENST00000518325.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGA8_chr5_141387633_141517975 | 141407491 | A | ATTTCTGT others(201): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0301 | 1 | 278 | 0.0036 | 208 | c.242 others(229): Show |
PCDHGA8 | ENSG00000253767.3 | transcript | ENST00000398604.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGA8_chr5_141387633_141517975 | 141407491 | A | ATTTCTGT others(201): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 278 | 0.0036 | 208 | c.242 others(229): Show |
PCDHGA8 | ENSG00000253767.3 | transcript | ENST00000398604.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGA9_chr5_141397778_141517975 | 141407491 | A | ATTTCTGT others(201): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0278 | 1 | 278 | 0.0036 | 208 | c.242 others(227): Show |
PCDHGA9 | ENSG00000261934.3 | transcript | ENST00000573521.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGA9_chr5_141397778_141517975 | 141407491 | A | ATTTCTGT others(201): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0019 | a0001c0019t0001 | a0001c0019t0001g0290 | 1 | 278 | 0.0036 | 208 | c.242 others(227): Show |
PCDHGA9 | ENSG00000261934.3 | transcript | ENST00000573521.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGB1_chr5_141345099_141517975 | 141407491 | A | ATTTCTGT others(201): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0159 | 1 | 255 | 0.0039 | 208 | c.240 others(229): Show |
PCDHGB1 | ENSG00000254221.3 | transcript | ENST00000523390.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGB2_chr5_141354994_141517975 | 141407491 | A | ATTTCTGT others(201): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 264 | 0.0038 | 208 | c.242 others(229): Show |
PCDHGB2 | ENSG00000253910.3 | transcript | ENST00000522605.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGB2_chr5_141354994_141517975 | 141407491 | A | ATTTCTGT others(201): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0277 | 1 | 264 | 0.0038 | 208 | c.242 others(229): Show |
PCDHGB2 | ENSG00000253910.3 | transcript | ENST00000522605.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGB3_chr5_141365242_141517975 | 141407491 | A | ATTTCTGT others(201): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 | 1 | 272 | 0.0037 | 208 | c.241 others(229): Show |
PCDHGB3 | ENSG00000262209.3 | transcript | ENST00000576222.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGB3_chr5_141365242_141517975 | 141407491 | A | ATTTCTGT others(201): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0292 | 1 | 272 | 0.0037 | 208 | c.241 others(229): Show |
PCDHGB3 | ENSG00000262209.3 | transcript | ENST00000576222.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGB4_chr5_141382698_141517975 | 141407491 | A | ATTTCTGT others(201): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 271 | 0.0037 | 208 | c.239 others(229): Show |
PCDHGB4 | ENSG00000253953.3 | transcript | ENST00000519479.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGB4_chr5_141382698_141517975 | 141407491 | A | ATTTCTGT others(201): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 271 | 0.0037 | 208 | c.239 others(229): Show |
PCDHGB4 | ENSG00000253953.3 | transcript | ENST00000519479.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGB5_chr5_141392947_141517975 | 141407491 | A | ATTTCTGT others(201): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0016 | 1 | 276 | 0.0036 | 208 | c.239 others(227): Show |
PCDHGB5 | ENSG00000276547.2 | transcript | ENST00000617380.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGB5_chr5_141392947_141517975 | 141407491 | A | ATTTCTGT others(201): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0033 | 1 | 276 | 0.0036 | 208 | c.239 others(227): Show |
PCDHGB5 | ENSG00000276547.2 | transcript | ENST00000617380.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGB6_chr5_141403021_141517975 | 141407491 | A | ATTTCTGT others(201): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0133 | 1 | 278 | 0.0036 | 208 | c.-71 others(217): Show |
PCDHGB6 | ENSG00000253305.3 | transcript | ENST00000520790.2 | protein_coding | 529 | chr5 | TogoVar | |||||||
PCDHGB6_chr5_141403021_141517975 | 141407491 | A | ATTTCTGT others(201): Show |
upstream_gene_variant | MODIFIER | HG01175.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0169 | 1 | 278 | 0.0036 | 208 | c.-71 others(217): Show |
PCDHGB6 | ENSG00000253305.3 | transcript | ENST00000520790.2 | protein_coding | 529 | chr5 | TogoVar | |||||||
PCED1A_chr20_2830314_2845655 | 2842844 | C | CGATAGAT others(201): Show |
upstream_gene_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 182 | 0.0055 | 208 | c.-26 others(219): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2190 | chr20 | TogoVar | |||||||
PCED1A_chr20_2830314_2845655 | 2842844 | C | CGATAGAT others(201): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 182 | 0.0055 | 208 | c.-26 others(219): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2190 | chr20 | TogoVar | |||||||
PCED1A_chr20_2830314_2845655 | 2842844 | C | CGATAGAT others(201): Show |
upstream_gene_variant | MODIFIER | HG03239.hp1 HG04228.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 a0001c0002t0001g0007 |
2 | 183 | 0.0109 | 208 | c.-26 others(219): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2190 | chr20 | TogoVar | |||||||
PCSK6_chr15_101298933_101494707 | 101493369 | T | TTCCCTCC others(201): Show |
upstream_gene_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0031 | a0002c0031t0001 | a0002c0031t0001g0008 | 1 | 7 | 0.1429 | 208 | c.-37 others(219): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 3663 | chr15 | TogoVar | |||||||
PCSK6_chr15_101298933_101494707 | 101493369 | T | TTCCCTCC others(201): Show |
upstream_gene_variant | MODIFIER | HG02809.hp1 HG03225.hp2 HG06807.hp2 |
a0001 | a0001c0003a0001c0004a0001c0007 | a0001c0003t0001a0001c0004t0001a0001c0007t0002 | a0001c0003t0001g0062 a0001c0004t0001g0100 a0001c0007t0002g0063 |
3 | 9 | 0.3333 | 208 | c.-37 others(219): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 3663 | chr15 | TogoVar | |||||||
PDIA6_chr2_10778391_10817785 | 10806628 | C | CAAAGAAA others(201): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0151 | 1 | 202 | 0.0050 | 208 | c.20- others(223): Show |
PDIA6 | ENSG00000143870.13 | transcript | ENST00000272227.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88712921 | C | CCCCCTTC others(201): Show |
downstream_gene_variant | MODIFIER | HG02965.hp2 | a0030 | a0030c0069 | a0030c0069t0001 | a0030c0069t0001g0114 | 1 | 182 | 0.0055 | 208 | c.*26 others(219): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 2416 | chr16 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88712921 | C | CCCCCTTC others(201): Show |
downstream_gene_variant | MODIFIER | HG02630.hp2 | a0030 | a0030c0132 | a0030c0132t0001 | a0030c0132t0001g0160 | 1 | 182 | 0.0055 | 208 | c.*26 others(219): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 2416 | chr16 | TogoVar | |||||||
PIK3R1_chr5_68210756_68306821 | 68262807 | G | GTAGATGC others(201): Show |
intron_variant | MODIFIER | HG02055.hp1 NA19030.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0212 a0001c0002t0002g0220 |
2 | 128 | 0.0156 | 208 | c.335 others(227): Show |
PIK3R1 | ENSG00000145675.16 | transcript | ENST00000521381.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PKD2L1_chr10_100283149_100335228 | 100314975 | G | GGGAAGGG others(201): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0287 | 1 | 277 | 0.0036 | 208 | c.349 others(227): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar |