| geneid | 14 |
|---|---|
| ensemblid | ENSG00000127837.10 |
| hgncid | 18 |
| symbol | AAMP |
| name | angio associated migratory cell protein |
| refseq_nuc | NM_001087.5 |
| refseq_prot | NP_001078.2 |
| ensembl_nuc | ENST00000248450.9 |
| ensembl_prot | ENSP00000248450.4 |
| mane_status | MANE Select |
| chr | chr2 |
| start | 218264129 |
| end | 218270137 |
| strand | - |
| ver | v1.2 |
| region | chr2:218264129-218270137 |
| region5000 | chr2:218259129-218275137 |
| regionname0 | AAMP_chr2_218264129_218270137 |
| regionname5000 | AAMP_chr2_218259129_218275137 |
| chr:pos | ref | alt | af | annotation | impact | samples | AHAPIDS | ACHAPIDS | ACTHAPIDS | ACTGHAPIDS | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|
| chr:pos | ref | alt | af | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|
| chr:pos | ref | alt | af | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr2:218264337
|
A | G | 0.9550 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(379): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(47): Show | 382 | 400 | 0 | AAMP | ENSG00000127837.10 | transcript | ENST00000248450.9 | protein_coding | 11/11 | c.*196T>C | 196 |
| chr:pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr2:218265182
|
G | A | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG01069.hp2 HG01167.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0047 | 4 | 400 | 0.0100 | 0 | AAMP | ENSG00000127837.10 | transcript | ENST00000248450.9 | protein_coding | 9/10 | c.1075-8C>T | ||||||
|
chr2:218265791
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG01069.hp2 HG01167.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0022a0001c0001t0001g0042others(1): Show | 7 | 400 | 0.0175 | 0 | AAMP | ENSG00000127837.10 | transcript | ENST00000248450.9 | protein_coding | 7/10 | c.879+40C>T | ||||||
|
chr2:218267658
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG01069.hp2 HG01167.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0022a0001c0001t0001g0047 | 6 | 400 | 0.0150 | 0 | AAMP | ENSG00000127837.10 | transcript | ENST00000248450.9 | protein_coding | 2/10 | c.275-45G>A | ||||||
|
chr2:218268569
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(383): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(48): Show | 386 | 400 | 0.9650 | 0 | AAMP | ENSG00000127837.10 | transcript | ENST00000248450.9 | protein_coding | 2/10 | c.274+813G>A | ||||||
|
chr2:218268694
|
CT | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(184): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0007others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(23): Show | 187 | 400 | 0.4675 | -1 | AAMP | ENSG00000127837.10 | transcript | ENST00000248450.9 | protein_coding | 2/10 | c.274+687delA |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
ahapid | alen | total | AFR | AMR | EAS | EUR | SAS | aseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AAMP | 1/1 | a0001 | 434 | 376 | 92 | 75 | 154 | 16 | 37 | subcellular location copy fasta | chr2 | 218259129 | 218275137 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
chapid | clen | total | AFR | AMR | EAS | EUR | SAS | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AAMP | 1/1 | c0001 | 1305 | 369 | 89 | 75 | 152 | 16 | 35 | copy fasta | chr2 | 218259129 | 218275137 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AAMP | 0/1 | t0001 | 456 | 380 | 77 | 80 | 168 | 16 | 38 | copy fasta | chr2 | 218259129 | 218275137 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AAMP | 0/0 | g0047 | 1 | 0 | 1 | 0 | 0 | 0 | chr2 | 218259129 | 218275137 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
achapid | total | AFR | AMR | EAS | EUR | SAS | clen | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AAMP | 1/1 | a0001c0001 | 369 | 89 | 75 | 152 | 16 | 35 | 1305 | copy fasta | chr2 | 218259129 | 218275137 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
acthapid | total | AFR | AMR | EAS | EUR | SAS | tlen | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AAMP | 0/1 | a0001c0001t0001 | 349 | 72 | 75 | 150 | 16 | 35 | 1760 | copy fasta | chr2 | 218259129 | 218275137 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
actghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AAMP | 0/0 | a0001c0001t0001g0047 | 1 | 0 | 1 | 0 | 0 | 0 | chr2 | 218259129 | 218275137 |
Click to load Haplotype QTL data...
| pos | S. Strand |
E# Exon Number |
max | median | min | diff | type | haplotypeid | max_hap_list | min_hap_list | symbol | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 218269966 | - | 1 | -0.9840 | -0.9840 | -0.9840 | 0.0000 | acceptor | a0001c0001t0001g0047 | HG01167.hp1 | HG01167.hp1 | AAMP | chr2 | 218259129 | 218275137 |
| 218269382 | - | 2 | -0.9950 | -0.9950 | -0.9950 | 0.0000 | acceptor | a0001c0001t0001g0047 | HG01167.hp1 | HG01167.hp1 | AAMP | chr2 | 218259129 | 218275137 |
| 218269534 | - | 2 | 0.9638 | 0.9638 | 0.9638 | 0.0000 | donor | a0001c0001t0001g0047 | HG01167.hp1 | HG01167.hp1 | AAMP | chr2 | 218259129 | 218275137 |
| 218267494 | - | 3 | -0.9981 | -0.9981 | -0.9981 | 0.0000 | acceptor | a0001c0001t0001g0047 | HG01167.hp1 | HG01167.hp1 | AAMP | chr2 | 218259129 | 218275137 |
| 218267613 | - | 3 | 0.9669 | 0.9669 | 0.9669 | 0.0000 | donor | a0001c0001t0001g0047 | HG01167.hp1 | HG01167.hp1 | AAMP | chr2 | 218259129 | 218275137 |
| 218266847 | - | 4 | -0.9975 | -0.9975 | -0.9975 | 0.0000 | acceptor | a0001c0001t0001g0047 | HG01167.hp1 | HG01167.hp1 | AAMP | chr2 | 218259129 | 218275137 |
| 218266986 | - | 4 | 0.9827 | 0.9827 | 0.9827 | 0.0000 | donor | a0001c0001t0001g0047 | HG01167.hp1 | HG01167.hp1 | AAMP | chr2 | 218259129 | 218275137 |
| 218266443 | - | 5 | -0.9655 | -0.9655 | -0.9655 | 0.0000 | acceptor | a0001c0001t0001g0047 | HG01167.hp1 | HG01167.hp1 | AAMP | chr2 | 218259129 | 218275137 |
| 218266587 | - | 5 | 0.9686 | 0.9686 | 0.9686 | 0.0000 | donor | a0001c0001t0001g0047 | HG01167.hp1 | HG01167.hp1 | AAMP | chr2 | 218259129 | 218275137 |
| 218266064 | - | 6 | -0.9739 | -0.9739 | -0.9739 | 0.0000 | acceptor | a0001c0001t0001g0047 | HG01167.hp1 | HG01167.hp1 | AAMP | chr2 | 218259129 | 218275137 |
| 218266147 | - | 6 | 0.9745 | 0.9745 | 0.9745 | 0.0000 | donor | a0001c0001t0001g0047 | HG01167.hp1 | HG01167.hp1 | AAMP | chr2 | 218259129 | 218275137 |
| 218265831 | - | 7 | -0.9983 | -0.9983 | -0.9983 | 0.0000 | acceptor | a0001c0001t0001g0047 | HG01167.hp1 | HG01167.hp1 | AAMP | chr2 | 218259129 | 218275137 |
| 218265946 | - | 7 | 0.9856 | 0.9856 | 0.9856 | 0.0000 | donor | a0001c0001t0001g0047 | HG01167.hp1 | HG01167.hp1 | AAMP | chr2 | 218259129 | 218275137 |
| 218265579 | - | 8 | -0.9464 | -0.9464 | -0.9464 | 0.0000 | acceptor | a0001c0001t0001g0047 | HG01167.hp1 | HG01167.hp1 | AAMP | chr2 | 218259129 | 218275137 |
| 218265682 | - | 8 | 0.9493 | 0.9493 | 0.9493 | 0.0000 | donor | a0001c0001t0001g0047 | HG01167.hp1 | HG01167.hp1 | AAMP | chr2 | 218259129 | 218275137 |
| 218265371 | - | 9 | -0.9875 | -0.9875 | -0.9875 | 0.0000 | acceptor | a0001c0001t0001g0047 | HG01167.hp1 | HG01167.hp1 | AAMP | chr2 | 218259129 | 218275137 |
| 218265461 | - | 9 | 0.9730 | 0.9730 | 0.9730 | 0.0000 | donor | a0001c0001t0001g0047 | HG01167.hp1 | HG01167.hp1 | AAMP | chr2 | 218259129 | 218275137 |
| 218265020 | - | 10 | -0.9983 | -0.9983 | -0.9983 | 0.0000 | acceptor | a0001c0001t0001g0047 | HG01167.hp1 | HG01167.hp1 | AAMP | chr2 | 218259129 | 218275137 |
| 218265174 | - | 10 | 0.9952 | 0.9952 | 0.9952 | 0.0000 | donor | a0001c0001t0001g0047 | HG01167.hp1 | HG01167.hp1 | AAMP | chr2 | 218259129 | 218275137 |
| 218264608 | - | 11 | 0.7625 | 0.7625 | 0.7625 | 0.0000 | donor | a0001c0001t0001g0047 | HG01167.hp1 | HG01167.hp1 | AAMP | chr2 | 218259129 | 218275137 |
| pos | annotationhgvs_chgvs_p | clinvarid | clnsig | geneinfo | mc | clndisdb | strand strand
|
ahapid ahapid_count
|
chapid chapid count
|
thapid thapid_count
|
ghapid ghapid_count
|
AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
impact | chr | ref | alt | external |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 218263372:splice 218263372:variant goto | c.*1161C>G | 3056324 | Benign | GPBAR1:151306 | SO:0001819 synonymous_variant |
. | - | 1 | 1 | 1 | 3 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0022a0001c0001t0001g0047 | HG00099.hp1 HG01069.hp2 HG01167.hp1 HG01169.hp1 HG02074.hp1 others(1): Show |
MODIFIER | chr2 | G | C | TogoVar |
| CHR:POS | annotationhgvs_chgvs_p | disease trait-log10podds or beta | AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
study | initial sample size/replication sample size | report genes | mapped gene | strongest snp risk allele | strand strand
|
impact | chr | ref | alt |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr2:218265791
|
c.879+40C>T | Smooth-surface caries8.4526 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0022a0001c0001t0001g0042a0001c0001t0001g0047 | HG00099.hp1 HG01069.hp2 HG01167.hp1 HG01169.hp1 HG02074.hp1 others(2): Show |
Genome-wide association studies of pit-and-fissure others(51): Show |
982 European ancestry individuals/ | CXCR2, AAMP, CXCR1 | AAMP | rs1079204-A | - | MODIFIER | chr2 | G | A |
| pos | genenamehgvs_chgvs_pannotation | tissueexpression gene-log10(pval)slope Tissue name in GTEx database(the target eQTL tissue name of the GTEx database)The -log10(nominal pvalue) in GTEx databaseSlope in GTEx database (positive value:alt allele has higher gene expression) |
ahapidchapidthapidghapid ahapid_countchapid_countthapid_countghapid_count
|
AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
af allele frequency in GTEx database |
ms The number of samples with minor allele in GTEx database |
ma The number of minor allele count in GTEx database |
ver GTEx version |
vid Variant ID in GTEx database |
strand strand
|
impact | chr | ref | alt | external |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 218268569:splice 218268569:variant goto | AAMPintron_variantc.274+813G>A | BCS1L Artery_Tibial 4.765 0.446 | 6101251 | a0001a0002a0003a0004a0005others(1): Show | a0001c0001a0001c0003a0001c0004a0001c0007a0001c0009others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0003t0001a0001c0004t0001others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(46): Show | HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 others(381): Show |
0.991 | 13 | 13 | 10 | chr2_218268569_C_T_b38 | - | MODIFIER | chr2 | C | T | TogoVar |
| 218268569:splice 218268569:variant goto | AAMPintron_variantc.274+813G>A | PNKD Testis 6.610 1.069 | 6101251 | a0001a0002a0003a0004a0005others(1): Show | a0001c0001a0001c0003a0001c0004a0001c0007a0001c0009others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0003t0001a0001c0004t0001others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(46): Show | HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 others(381): Show |
0.993 | 6 | 6 | 10 | chr2_218268569_C_T_b38 | - | MODIFIER | chr2 | C | T | TogoVar |
| 218268569:splice 218268569:variant goto | AAMPintron_variantc.274+813G>A | TMBIM1 Whole_Blood 4.012 -0.419 | 6101251 | a0001a0002a0003a0004a0005others(1): Show | a0001c0001a0001c0003a0001c0004a0001c0007a0001c0009others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0003t0001a0001c0004t0001others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(46): Show | HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 others(381): Show |
0.991 | 14 | 14 | 10 | chr2_218268569_C_T_b38 | - | MODIFIER | chr2 | C | T | TogoVar |
| 218264337:splice 218264337:variant goto | AAMP3_prime_UTR_variantc.*196T>C | BCS1L Artery_Tibial 3.973 0.328 | 6101150 | a0001a0002a0003a0004a0005others(1): Show | a0001c0001a0001c0003a0001c0004a0001c0007a0001c0009others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001a0001c0004t0001a0001c0007t0001others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(45): Show | HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 others(377): Show |
0.984 | 22 | 22 | 10 | chr2_218264337_A_G_b38 | - | MODIFIER | chr2 | A | G | TogoVar |
| 218264337:splice 218264337:variant goto | AAMP3_prime_UTR_variantc.*196T>C | PNKD Testis 4.657 0.694 | 6101150 | a0001a0002a0003a0004a0005others(1): Show | a0001c0001a0001c0003a0001c0004a0001c0007a0001c0009others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001a0001c0004t0001a0001c0007t0001others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(45): Show | HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 others(377): Show |
0.985 | 12 | 12 | 10 | chr2_218264337_A_G_b38 | - | MODIFIER | chr2 | A | G | TogoVar |
| 218261465:splice 218261465:variant goto | AAMPdownstream_gene_variantc.*3068C>Aothers(2): Show | ARPC2 Adipose_Subcutaneous 4.161 -0.208 | 1114 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0022a0001c0001t0001g0042a0001c0001t0001g0047 | HG00099.hp1 HG01069.hp2 HG01167.hp1 HG01169.hp1 HG02074.hp1 others(2): Show |
0.039 | 54 | 55 | 10 | chr2_218261465_G_T_b38 | - | MODIFIER | chr2 | G | T | TogoVar |
| 218263792:splice 218263792:variant goto | AAMPdownstream_gene_variantc.*741G>Aothers(1): Show | ARPC2 Adipose_Subcutaneous 4.161 -0.208 | 1114 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0022a0001c0001t0001g0042a0001c0001t0001g0047 | HG00099.hp1 HG01069.hp2 HG01167.hp1 HG01169.hp1 HG02074.hp1 others(2): Show |
0.039 | 54 | 55 | 10 | chr2_218263792_C_T_b38 | - | MODIFIER | chr2 | C | T | TogoVar |
| 218265791:splice 218265791:variant goto | AAMPintron_variantc.879+40C>T | ARPC2 Adipose_Subcutaneous 4.161 -0.208 | 1114 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0022a0001c0001t0001g0042a0001c0001t0001g0047 | HG00099.hp1 HG01069.hp2 HG01167.hp1 HG01169.hp1 HG02074.hp1 others(2): Show |
0.039 | 54 | 55 | 10 | chr2_218265791_G_A_b38 | - | MODIFIER | chr2 | G | A | TogoVar |
| 218261465:splice 218261465:variant goto | AAMPdownstream_gene_variantc.*3068C>Aothers(2): Show | TMBIM1 Adrenal_Gland 6.973 0.419 | 1114 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0022a0001c0001t0001g0042a0001c0001t0001g0047 | HG00099.hp1 HG01069.hp2 HG01167.hp1 HG01169.hp1 HG02074.hp1 others(2): Show |
0.054 | 31 | 32 | 10 | chr2_218261465_G_T_b38 | - | MODIFIER | chr2 | G | T | TogoVar |
| 218263792:splice 218263792:variant goto | AAMPdownstream_gene_variantc.*741G>Aothers(1): Show | TMBIM1 Adrenal_Gland 6.973 0.419 | 1114 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0022a0001c0001t0001g0042a0001c0001t0001g0047 | HG00099.hp1 HG01069.hp2 HG01167.hp1 HG01169.hp1 HG02074.hp1 others(2): Show |
0.054 | 31 | 32 | 10 | chr2_218263792_C_T_b38 | - | MODIFIER | chr2 | C | T | TogoVar |
| 218265791:splice 218265791:variant goto | AAMPintron_variantc.879+40C>T | TMBIM1 Adrenal_Gland 6.973 0.419 | 1114 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0022a0001c0001t0001g0042a0001c0001t0001g0047 | HG00099.hp1 HG01069.hp2 HG01167.hp1 HG01169.hp1 HG02074.hp1 others(2): Show |
0.054 | 31 | 32 | 10 | chr2_218265791_G_A_b38 | - | MODIFIER | chr2 | G | A | TogoVar |
| 218261465:splice 218261465:variant goto | AAMPdownstream_gene_variantc.*3068C>Aothers(2): Show | GPBAR1 Artery_Tibial 3.980 -0.368 | 1114 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0022a0001c0001t0001g0042a0001c0001t0001g0047 | HG00099.hp1 HG01069.hp2 HG01167.hp1 HG01169.hp1 HG02074.hp1 others(2): Show |
0.038 | 51 | 52 | 10 | chr2_218261465_G_T_b38 | - | MODIFIER | chr2 | G | T | TogoVar |
| 218263792:splice 218263792:variant goto | AAMPdownstream_gene_variantc.*741G>Aothers(1): Show | GPBAR1 Artery_Tibial 3.980 -0.368 | 1114 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0022a0001c0001t0001g0042a0001c0001t0001g0047 | HG00099.hp1 HG01069.hp2 HG01167.hp1 HG01169.hp1 HG02074.hp1 others(2): Show |
0.038 | 51 | 52 | 10 | chr2_218263792_C_T_b38 | - | MODIFIER | chr2 | C | T | TogoVar |
| 218265791:splice 218265791:variant goto | AAMPintron_variantc.879+40C>T | GPBAR1 Artery_Tibial 3.980 -0.368 | 1114 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0022a0001c0001t0001g0042a0001c0001t0001g0047 | HG00099.hp1 HG01069.hp2 HG01167.hp1 HG01169.hp1 HG02074.hp1 others(2): Show |
0.038 | 51 | 52 | 10 | chr2_218265791_G_A_b38 | - | MODIFIER | chr2 | G | A | TogoVar |
| 218261465:splice 218261465:variant goto | AAMPdownstream_gene_variantc.*3068C>Aothers(2): Show | GPBAR1 Esophagus_Muscularis 4.919 -0.371 | 1114 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0022a0001c0001t0001g0042a0001c0001t0001g0047 | HG00099.hp1 HG01069.hp2 HG01167.hp1 HG01169.hp1 HG02074.hp1 others(2): Show |
0.047 | 52 | 53 | 10 | chr2_218261465_G_T_b38 | - | MODIFIER | chr2 | G | T | TogoVar |
| 218263792:splice 218263792:variant goto | AAMPdownstream_gene_variantc.*741G>Aothers(1): Show | GPBAR1 Esophagus_Muscularis 4.919 -0.371 | 1114 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0022a0001c0001t0001g0042a0001c0001t0001g0047 | HG00099.hp1 HG01069.hp2 HG01167.hp1 HG01169.hp1 HG02074.hp1 others(2): Show |
0.047 | 52 | 53 | 10 | chr2_218263792_C_T_b38 | - | MODIFIER | chr2 | C | T | TogoVar |
| 218265791:splice 218265791:variant goto | AAMPintron_variantc.879+40C>T | GPBAR1 Esophagus_Muscularis 4.919 -0.371 | 1114 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0022a0001c0001t0001g0042a0001c0001t0001g0047 | HG00099.hp1 HG01069.hp2 HG01167.hp1 HG01169.hp1 HG02074.hp1 others(2): Show |
0.047 | 52 | 53 | 10 | chr2_218265791_G_A_b38 | - | MODIFIER | chr2 | G | A | TogoVar |
| 218261465:splice 218261465:variant goto | AAMPdownstream_gene_variantc.*3068C>Aothers(2): Show | GPBAR1 Muscle_Skeletal 3.728 -0.350 | 1114 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0022a0001c0001t0001g0042a0001c0001t0001g0047 | HG00099.hp1 HG01069.hp2 HG01167.hp1 HG01169.hp1 HG02074.hp1 others(2): Show |
0.039 | 63 | 64 | 10 | chr2_218261465_G_T_b38 | - | MODIFIER | chr2 | G | T | TogoVar |
| 218263792:splice 218263792:variant goto | AAMPdownstream_gene_variantc.*741G>Aothers(1): Show | GPBAR1 Muscle_Skeletal 3.728 -0.350 | 1114 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0022a0001c0001t0001g0042a0001c0001t0001g0047 | HG00099.hp1 HG01069.hp2 HG01167.hp1 HG01169.hp1 HG02074.hp1 others(2): Show |
0.039 | 63 | 64 | 10 | chr2_218263792_C_T_b38 | - | MODIFIER | chr2 | C | T | TogoVar |
| 218265791:splice 218265791:variant goto | AAMPintron_variantc.879+40C>T | GPBAR1 Muscle_Skeletal 3.886 -0.350 | 1114 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0022a0001c0001t0001g0042a0001c0001t0001g0047 | HG00099.hp1 HG01069.hp2 HG01167.hp1 HG01169.hp1 HG02074.hp1 others(2): Show |
0.040 | 63 | 65 | 10 | chr2_218265791_G_A_b38 | - | MODIFIER | chr2 | G | A | TogoVar |
| 218261465:splice 218261465:variant goto | AAMPdownstream_gene_variantc.*3068C>Aothers(2): Show | ARPC2 Nerve_Tibial 5.123 -0.242 | 1114 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0022a0001c0001t0001g0042a0001c0001t0001g0047 | HG00099.hp1 HG01069.hp2 HG01167.hp1 HG01169.hp1 HG02074.hp1 others(2): Show |
0.040 | 53 | 54 | 10 | chr2_218261465_G_T_b38 | - | MODIFIER | chr2 | G | T | TogoVar |
| 218263792:splice 218263792:variant goto | AAMPdownstream_gene_variantc.*741G>Aothers(1): Show | ARPC2 Nerve_Tibial 5.123 -0.242 | 1114 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0022a0001c0001t0001g0042a0001c0001t0001g0047 | HG00099.hp1 HG01069.hp2 HG01167.hp1 HG01169.hp1 HG02074.hp1 others(2): Show |
0.040 | 53 | 54 | 10 | chr2_218263792_C_T_b38 | - | MODIFIER | chr2 | C | T | TogoVar |
| 218265791:splice 218265791:variant goto | AAMPintron_variantc.879+40C>T | ARPC2 Nerve_Tibial 5.123 -0.242 | 1114 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0022a0001c0001t0001g0042a0001c0001t0001g0047 | HG00099.hp1 HG01069.hp2 HG01167.hp1 HG01169.hp1 HG02074.hp1 others(2): Show |
0.040 | 53 | 54 | 10 | chr2_218265791_G_A_b38 | - | MODIFIER | chr2 | G | A | TogoVar |
| 218261465:splice 218261465:variant goto | AAMPdownstream_gene_variantc.*3068C>Aothers(2): Show | PNKD Pituitary 5.209 -0.558 | 1114 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0022a0001c0001t0001g0042a0001c0001t0001g0047 | HG00099.hp1 HG01069.hp2 HG01167.hp1 HG01169.hp1 HG02074.hp1 others(2): Show |
0.037 | 23 | 23 | 10 | chr2_218261465_G_T_b38 | - | MODIFIER | chr2 | G | T | TogoVar |
| 218263792:splice 218263792:variant goto | AAMPdownstream_gene_variantc.*741G>Aothers(1): Show | PNKD Pituitary 5.209 -0.558 | 1114 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0022a0001c0001t0001g0042a0001c0001t0001g0047 | HG00099.hp1 HG01069.hp2 HG01167.hp1 HG01169.hp1 HG02074.hp1 others(2): Show |
0.037 | 23 | 23 | 10 | chr2_218263792_C_T_b38 | - | MODIFIER | chr2 | C | T | TogoVar |
| 218265791:splice 218265791:variant goto | AAMPintron_variantc.879+40C>T | PNKD Pituitary 5.209 -0.558 | 1114 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0022a0001c0001t0001g0042a0001c0001t0001g0047 | HG00099.hp1 HG01069.hp2 HG01167.hp1 HG01169.hp1 HG02074.hp1 others(2): Show |
0.037 | 23 | 23 | 10 | chr2_218265791_G_A_b38 | - | MODIFIER | chr2 | G | A | TogoVar |
| 218261465:splice 218261465:variant goto | AAMPdownstream_gene_variantc.*3068C>Aothers(2): Show | PNKD Stomach 4.394 -0.228 | 1114 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0022a0001c0001t0001g0042a0001c0001t0001g0047 | HG00099.hp1 HG01069.hp2 HG01167.hp1 HG01169.hp1 HG02074.hp1 others(2): Show |
0.041 | 32 | 33 | 10 | chr2_218261465_G_T_b38 | - | MODIFIER | chr2 | G | T | TogoVar |
| 218263792:splice 218263792:variant goto | AAMPdownstream_gene_variantc.*741G>Aothers(1): Show | PNKD Stomach 4.394 -0.228 | 1114 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0022a0001c0001t0001g0042a0001c0001t0001g0047 | HG00099.hp1 HG01069.hp2 HG01167.hp1 HG01169.hp1 HG02074.hp1 others(2): Show |
0.041 | 32 | 33 | 10 | chr2_218263792_C_T_b38 | - | MODIFIER | chr2 | C | T | TogoVar |
| 218265791:splice 218265791:variant goto | AAMPintron_variantc.879+40C>T | PNKD Stomach 4.394 -0.228 | 1114 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0022a0001c0001t0001g0042a0001c0001t0001g0047 | HG00099.hp1 HG01069.hp2 HG01167.hp1 HG01169.hp1 HG02074.hp1 others(2): Show |
0.041 | 32 | 33 | 10 | chr2_218265791_G_A_b38 | - | MODIFIER | chr2 | G | A | TogoVar |
| 218261465:splice 218261465:variant goto | AAMPdownstream_gene_variantc.*3068C>Aothers(2): Show | TMBIM1 Thyroid 5.425 0.216 | 1114 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0022a0001c0001t0001g0042a0001c0001t0001g0047 | HG00099.hp1 HG01069.hp2 HG01167.hp1 HG01169.hp1 HG02074.hp1 others(2): Show |
0.040 | 54 | 55 | 10 | chr2_218261465_G_T_b38 | - | MODIFIER | chr2 | G | T | TogoVar |
| 218263792:splice 218263792:variant goto | AAMPdownstream_gene_variantc.*741G>Aothers(1): Show | TMBIM1 Thyroid 5.425 0.216 | 1114 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0022a0001c0001t0001g0042a0001c0001t0001g0047 | HG00099.hp1 HG01069.hp2 HG01167.hp1 HG01169.hp1 HG02074.hp1 others(2): Show |
0.040 | 54 | 55 | 10 | chr2_218263792_C_T_b38 | - | MODIFIER | chr2 | C | T | TogoVar |
| 218265791:splice 218265791:variant goto | AAMPintron_variantc.879+40C>T | TMBIM1 Thyroid 5.469 0.211 | 1114 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0022a0001c0001t0001g0042a0001c0001t0001g0047 | HG00099.hp1 HG01069.hp2 HG01167.hp1 HG01169.hp1 HG02074.hp1 others(2): Show |
0.041 | 54 | 56 | 10 | chr2_218265791_G_A_b38 | - | MODIFIER | chr2 | G | A | TogoVar |
| 218263372:splice 218263372:variant goto | AAMPdownstream_gene_variantc.*1161C>Gothers(2): Show | ARPC2 Adipose_Subcutaneous 4.161 -0.208 | 1113 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0022a0001c0001t0001g0047 | HG00099.hp1 HG01069.hp2 HG01167.hp1 HG01169.hp1 HG02074.hp1 others(1): Show |
0.039 | 54 | 55 | 10 | chr2_218263372_G_C_b38 | - | MODIFIER | chr2 | G | C | TogoVar |
| 218267658:splice 218267658:variant goto | AAMPintron_variantc.275-45G>A | ARPC2 Adipose_Subcutaneous 4.161 -0.208 | 1113 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0022a0001c0001t0001g0047 | HG00099.hp1 HG01069.hp2 HG01167.hp1 HG01169.hp1 HG02074.hp1 others(1): Show |
0.039 | 54 | 55 | 10 | chr2_218267658_C_T_b38 | - | MODIFIER | chr2 | C | T | TogoVar |
| 218263372:splice 218263372:variant goto | AAMPdownstream_gene_variantc.*1161C>Gothers(2): Show | TMBIM1 Adrenal_Gland 6.973 0.419 | 1113 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0022a0001c0001t0001g0047 | HG00099.hp1 HG01069.hp2 HG01167.hp1 HG01169.hp1 HG02074.hp1 others(1): Show |
0.054 | 31 | 32 | 10 | chr2_218263372_G_C_b38 | - | MODIFIER | chr2 | G | C | TogoVar |
| 218267658:splice 218267658:variant goto | AAMPintron_variantc.275-45G>A | TMBIM1 Adrenal_Gland 6.973 0.419 | 1113 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0022a0001c0001t0001g0047 | HG00099.hp1 HG01069.hp2 HG01167.hp1 HG01169.hp1 HG02074.hp1 others(1): Show |
0.054 | 31 | 32 | 10 | chr2_218267658_C_T_b38 | - | MODIFIER | chr2 | C | T | TogoVar |
| 218263372:splice 218263372:variant goto | AAMPdownstream_gene_variantc.*1161C>Gothers(2): Show | GPBAR1 Artery_Tibial 3.980 -0.368 | 1113 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0022a0001c0001t0001g0047 | HG00099.hp1 HG01069.hp2 HG01167.hp1 HG01169.hp1 HG02074.hp1 others(1): Show |
0.038 | 51 | 52 | 10 | chr2_218263372_G_C_b38 | - | MODIFIER | chr2 | G | C | TogoVar |
| 218267658:splice 218267658:variant goto | AAMPintron_variantc.275-45G>A | GPBAR1 Artery_Tibial 3.980 -0.368 | 1113 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0022a0001c0001t0001g0047 | HG00099.hp1 HG01069.hp2 HG01167.hp1 HG01169.hp1 HG02074.hp1 others(1): Show |
0.038 | 51 | 52 | 10 | chr2_218267658_C_T_b38 | - | MODIFIER | chr2 | C | T | TogoVar |
| 218263372:splice 218263372:variant goto | AAMPdownstream_gene_variantc.*1161C>Gothers(2): Show | GPBAR1 Esophagus_Muscularis 4.700 -0.365 | 1113 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0022a0001c0001t0001g0047 | HG00099.hp1 HG01069.hp2 HG01167.hp1 HG01169.hp1 HG02074.hp1 others(1): Show |
0.046 | 51 | 52 | 10 | chr2_218263372_G_C_b38 | - | MODIFIER | chr2 | G | C | TogoVar |
| 218267658:splice 218267658:variant goto | AAMPintron_variantc.275-45G>A | GPBAR1 Esophagus_Muscularis 4.919 -0.371 | 1113 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0022a0001c0001t0001g0047 | HG00099.hp1 HG01069.hp2 HG01167.hp1 HG01169.hp1 HG02074.hp1 others(1): Show |
0.047 | 52 | 53 | 10 | chr2_218267658_C_T_b38 | - | MODIFIER | chr2 | C | T | TogoVar |
| 218267658:splice 218267658:variant goto | AAMPintron_variantc.275-45G>A | GPBAR1 Muscle_Skeletal 3.728 -0.350 | 1113 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0022a0001c0001t0001g0047 | HG00099.hp1 HG01069.hp2 HG01167.hp1 HG01169.hp1 HG02074.hp1 others(1): Show |
0.039 | 63 | 64 | 10 | chr2_218267658_C_T_b38 | - | MODIFIER | chr2 | C | T | TogoVar |
| 218263372:splice 218263372:variant goto | AAMPdownstream_gene_variantc.*1161C>Gothers(2): Show | ARPC2 Nerve_Tibial 5.123 -0.242 | 1113 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0022a0001c0001t0001g0047 | HG00099.hp1 HG01069.hp2 HG01167.hp1 HG01169.hp1 HG02074.hp1 others(1): Show |
0.040 | 53 | 54 | 10 | chr2_218263372_G_C_b38 | - | MODIFIER | chr2 | G | C | TogoVar |
| 218267658:splice 218267658:variant goto | AAMPintron_variantc.275-45G>A | ARPC2 Nerve_Tibial 5.123 -0.242 | 1113 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0022a0001c0001t0001g0047 | HG00099.hp1 HG01069.hp2 HG01167.hp1 HG01169.hp1 HG02074.hp1 others(1): Show |
0.040 | 53 | 54 | 10 | chr2_218267658_C_T_b38 | - | MODIFIER | chr2 | C | T | TogoVar |
| 218263372:splice 218263372:variant goto | AAMPdownstream_gene_variantc.*1161C>Gothers(2): Show | PNKD Pituitary 5.209 -0.558 | 1113 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0022a0001c0001t0001g0047 | HG00099.hp1 HG01069.hp2 HG01167.hp1 HG01169.hp1 HG02074.hp1 others(1): Show |
0.037 | 23 | 23 | 10 | chr2_218263372_G_C_b38 | - | MODIFIER | chr2 | G | C | TogoVar |
| 218267658:splice 218267658:variant goto | AAMPintron_variantc.275-45G>A | PNKD Pituitary 5.209 -0.558 | 1113 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0022a0001c0001t0001g0047 | HG00099.hp1 HG01069.hp2 HG01167.hp1 HG01169.hp1 HG02074.hp1 others(1): Show |
0.037 | 23 | 23 | 10 | chr2_218267658_C_T_b38 | - | MODIFIER | chr2 | C | T | TogoVar |
| 218263372:splice 218263372:variant goto | AAMPdownstream_gene_variantc.*1161C>Gothers(2): Show | PNKD Stomach 4.394 -0.228 | 1113 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0022a0001c0001t0001g0047 | HG00099.hp1 HG01069.hp2 HG01167.hp1 HG01169.hp1 HG02074.hp1 others(1): Show |
0.041 | 32 | 33 | 10 | chr2_218263372_G_C_b38 | - | MODIFIER | chr2 | G | C | TogoVar |
| 218267658:splice 218267658:variant goto | AAMPintron_variantc.275-45G>A | PNKD Stomach 4.394 -0.228 | 1113 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0022a0001c0001t0001g0047 | HG00099.hp1 HG01069.hp2 HG01167.hp1 HG01169.hp1 HG02074.hp1 others(1): Show |
0.041 | 32 | 33 | 10 | chr2_218267658_C_T_b38 | - | MODIFIER | chr2 | C | T | TogoVar |
| 218263372:splice 218263372:variant goto | AAMPdownstream_gene_variantc.*1161C>Gothers(2): Show | TMBIM1 Thyroid 5.545 0.220 | 1113 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0022a0001c0001t0001g0047 | HG00099.hp1 HG01069.hp2 HG01167.hp1 HG01169.hp1 HG02074.hp1 others(1): Show |
0.040 | 53 | 54 | 10 | chr2_218263372_G_C_b38 | - | MODIFIER | chr2 | G | C | TogoVar |
| 218267658:splice 218267658:variant goto | AAMPintron_variantc.275-45G>A | TMBIM1 Thyroid 5.425 0.216 | 1113 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0022a0001c0001t0001g0047 | HG00099.hp1 HG01069.hp2 HG01167.hp1 HG01169.hp1 HG02074.hp1 others(1): Show |
0.040 | 54 | 55 | 10 | chr2_218267658_C_T_b38 | - | MODIFIER | chr2 | C | T | TogoVar |
| 218265182:splice 218265182:variant goto | AAMPsplice_region_variant&intron_variant others(16): Show |
TMBIM1 Adrenal_Gland 5.981 0.399 | 1112 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0047 | HG00099.hp1 HG01069.hp2 HG01167.hp1 HG01169.hp1 |
0.049 | 28 | 29 | 10 | chr2_218265182_G_A_b38 | - | LOW | chr2 | G | A | TogoVar |
| 218265182:splice 218265182:variant goto | AAMPsplice_region_variant&intron_variant others(16): Show |
ARPC2 Nerve_Tibial 5.852 -0.289 | 1112 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0047 | HG00099.hp1 HG01069.hp2 HG01167.hp1 HG01169.hp1 |
0.032 | 42 | 43 | 10 | chr2_218265182_G_A_b38 | - | LOW | chr2 | G | A | TogoVar |
| 218265182:splice 218265182:variant goto | AAMPsplice_region_variant&intron_variant others(16): Show |
PNKD Pituitary 5.806 -0.638 | 1112 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0047 | HG00099.hp1 HG01069.hp2 HG01167.hp1 HG01169.hp1 |
0.032 | 20 | 20 | 10 | chr2_218265182_G_A_b38 | - | LOW | chr2 | G | A | TogoVar |
| 218265182:splice 218265182:variant goto | AAMPsplice_region_variant&intron_variant others(16): Show |
PNKD Stomach 4.956 -0.266 | 1112 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0047 | HG00099.hp1 HG01069.hp2 HG01167.hp1 HG01169.hp1 |
0.033 | 26 | 27 | 10 | chr2_218265182_G_A_b38 | - | LOW | chr2 | G | A | TogoVar |
| 218265182:splice 218265182:variant goto | AAMPsplice_region_variant&intron_variant others(16): Show |
GPBAR1 Thyroid 3.604 -0.353 | 1112 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0047 | HG00099.hp1 HG01069.hp2 HG01167.hp1 HG01169.hp1 |
0.035 | 46 | 47 | 10 | chr2_218265182_G_A_b38 | - | LOW | chr2 | G | A | TogoVar |