Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 285095 |
| ensemblid | ENSG00000216921.9 |
| hgncid | 54200 |
| symbol | FAM240C |
| name | family with sequence similarity 240 member C |
| refseq_nuc | NM_001382368.1 |
| refseq_prot | NP_001369297.1 |
| ensembl_nuc | ENST00000404031.6 |
| ensembl_prot | ENSP00000490626.1 |
| mane_status | MANE Select |
| chr | chr2 |
| start | 241893988 |
| end | 241900464 |
| strand | - |
| ver | v1.2 |
| region | chr2:241893988-241900464 |
| region5000 | chr2:241888988-241905464 |
| regionname0 | FAM240C_chr2_241893988_241900464 |
| regionname5000 | FAM240C_chr2_241888988_241905464 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 0/0 | 95 | 19 | 6 | 6 | 1 | 4 | 2 | 1 | FAM240C_chr2_241888988_241905464 | FAM240C | MVGKN others(90): Show |
chr2 | 241888988 | 241905464 |
| a0002 | 0/1 | 95 | 18 | 6 | 4 | 3 | 2 | 2 | 3 | FAM240C_chr2_241888988_241905464 | FAM240C | MVGKN others(90): Show |
chr2 | 241888988 | 241905464 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/0 | 285 | 19 | 6 | 6 | 1 | 4 | 2 | FAM240C_chr2_241888988_241905464 | FAM240C | ATGGT others(280): Show |
chr2 | 241888988 | 241905464 | ||
| a0002c0002 | 0/1 | 285 | 18 | 6 | 4 | 3 | 2 | 2 | FAM240C_chr2_241888988_241905464 | FAM240C | ATGGT others(280): Show |
chr2 | 241888988 | 241905464 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 608 | 19 | 6 | 6 | 1 | 4 | 2 | FAM240C_chr2_241888988_241905464 | FAM240C | AACAG others(603): Show |
chr2 | 241888988 | 241905464 |
| a0002c0002t0001 | 0/1 | 608 | 15 | 4 | 3 | 3 | 2 | 2 | FAM240C_chr2_241888988_241905464 | FAM240C | AACAG others(603): Show |
chr2 | 241888988 | 241905464 |
| a0002c0002t0002 | 0/0 | 608 | 2 | 2 | 0 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | AACAG others(603): Show |
chr2 | 241888988 | 241905464 |
| a0002c0002t0003 | 0/0 | 608 | 1 | 0 | 1 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | AACAG others(603): Show |
chr2 | 241888988 | 241905464 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0001c0001t0001g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0001c0001t0001g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0001c0001t0001g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0001c0001t0001g0023 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0001c0001t0001g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0001c0001t0001g0025 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0001c0001t0001g0026 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0001c0001t0001g0027 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0001c0001t0001g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0001c0001t0001g0029 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0001c0001t0001g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0001c0001t0001g0031 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0001c0001t0001g0032 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0001c0001t0001g0033 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0001c0001t0001g0034 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0001c0001t0001g0035 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0001c0001t0001g0036 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0001c0001t0001g0037 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0002c0002t0001g0004 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0002c0002t0001g0005 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0002c0002t0001g0006 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0002c0002t0001g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0002c0002t0001g0008 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0002c0002t0001g0009 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0002c0002t0001g0010 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0002c0002t0001g0011 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0002c0002t0001g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0002c0002t0001g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0002c0002t0001g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0002c0002t0001g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0002c0002t0001g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0002c0002t0001g0018 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0002c0002t0001g0019 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0002c0002t0002g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0002c0002t0002g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0002c0002t0003g0003 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00280 | hp1 | a0001 | c0001 | t0001 | g0023 | EUR | FIN | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| HG00280 | hp2 | a0002 | c0002 | t0001 | g0010 | EUR | FIN | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| HG00323 | hp1 | a0002 | c0002 | t0001 | g0011 | EUR | FIN | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| HG00323 | hp2 | a0001 | c0001 | t0001 | g0029 | EUR | FIN | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| HG00733 | hp1 | a0001 | c0001 | t0001 | g0036 | AMR | PUR | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| HG00733 | hp2 | a0001 | c0001 | t0001 | g0031 | AMR | PUR | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| HG01070 | hp1 | a0002 | c0002 | t0003 | g0003 | AMR | PUR | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| HG01070 | hp2 | a0001 | c0001 | t0001 | g0027 | AMR | PUR | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| HG01257 | hp1 | a0001 | c0001 | t0001 | g0035 | AMR | CLM | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| HG01257 | hp2 | a0001 | c0001 | t0001 | g0025 | AMR | CLM | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| HG01515 | hp1 | a0001 | c0001 | t0001 | g0037 | EUR | IBS | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| HG01515 | hp2 | a0001 | c0001 | t0001 | g0033 | EUR | IBS | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| HG01943 | hp1 | a0001 | c0001 | t0001 | g0032 | AMR | PEL | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| HG01943 | hp2 | a0002 | c0002 | t0001 | g0018 | AMR | PEL | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| HG02273 | hp1 | a0002 | c0002 | t0001 | g0008 | AMR | PEL | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| HG02273 | hp2 | a0002 | c0002 | t0001 | g0019 | AMR | PEL | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| HG02922 | hp1 | a0001 | c0001 | t0001 | g0022 | AFR | ESN | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| HG02922 | hp2 | a0002 | c0002 | t0001 | g0013 | AFR | ESN | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| HG03041 | hp1 | a0002 | c0002 | t0001 | g0012 | AFR | GWD | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| HG03041 | hp2 | a0002 | c0002 | t0002 | g0001 | AFR | GWD | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| HG03195 | hp1 | a0001 | c0001 | t0001 | g0016 | AFR | ESN | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| HG03195 | hp2 | a0002 | c0002 | t0001 | g0014 | AFR | ESN | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| HG03579 | hp1 | a0001 | c0001 | t0001 | g0024 | AFR | MSL | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| HG03579 | hp2 | a0002 | c0002 | t0002 | g0002 | AFR | MSL | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| HG03834 | hp1 | a0002 | c0002 | t0001 | g0005 | SAS | BEB | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| HG03834 | hp2 | a0001 | c0001 | t0001 | g0026 | SAS | BEB | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| HG04184 | hp1 | a0001 | c0001 | t0001 | g0034 | SAS | BEB | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| HG04184 | hp2 | a0002 | c0002 | t0001 | g0004 | SAS | BEB | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| NA18906 | hp1 | a0001 | c0001 | t0001 | g0021 | AFR | YRI | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| NA18906 | hp2 | a0002 | c0002 | t0001 | g0015 | AFR | YRI | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| NA18964 | hp1 | a0002 | c0002 | t0001 | g0006 | EAS | JPT | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| NA18964 | hp2 | a0002 | c0002 | t0001 | g0017 | EAS | JPT | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| NA19004 | hp1 | a0001 | c0001 | t0001 | g0028 | EAS | JPT | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| NA19004 | hp2 | a0002 | c0002 | t0001 | g0007 | EAS | JPT | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| NA19030 | hp1 | a0001 | c0001 | t0001 | g0020 | AFR | LWK | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| NA19030 | hp2 | a0001 | c0001 | t0001 | g0030 | AFR | LWK | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| homoSapiens | chm13v2 | a0002 | c0002 | t0001 | g0009 | REF | REF | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| view | chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | 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 | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:241897212 | G | C | 1 | a0002 | 17 | HG00280.hp2 HG00323.hp1 HG01070.hp1 others(14): Show |
missense_variant | MODERATE | c.135C>G | p.Ile45Met | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/3 | 230/608 | 135/288 | 45/95 | chr2 | 241897212 |
| view | chr:pos | ref | alt | # # of chapid |
chapids | # # of haplotypeids |
haplotypeids | annotation | impact | 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 | pos |
|---|
| view | chr:pos | ref | alt | # # of thapid:transcript level |
thapids | # # of haplotypeids |
haplotypeids | annotation | impact | 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 | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:241900417 | C | T | 1 | a0002c0002t0003 | 1 | HG01070.hp1 | 5_prime_UTR_variant | MODIFIER | c.-48G>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 1/3 | 48 | chr2 | 241900417 | ||||||
| chr2:241900436 | C | T | 1 | a0002c0002t0002 | 2 | HG03041.hp2 HG03579.hp2 |
5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-67G>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 1/3 | chr2 | 241900436 |
| view | chr:pos | ref | alt | # # of ghapid:genebody level |
ghapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:241894384 | A | G | 20 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(17): Show |
20 | HG00280.hp1 HG00323.hp2 HG00733.hp2 others(17): Show |
intron_variant | MODIFIER | c.162-45T>C | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241894384 | |||||||
| chr2:241894534 | C | T | 3 | a0001c0001t0001g0016 a0002c0002t0001g0014 a0002c0002t0001g0015 |
3 | HG03195.hp1 HG03195.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.162-195G>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241894534 | |||||||
| chr2:241894561 | A | C | 20 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(17): Show |
20 | HG00280.hp1 HG00323.hp2 HG00733.hp2 others(17): Show |
intron_variant | MODIFIER | c.162-222T>G | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241894561 | |||||||
| chr2:241894573 | TGG | T | 11 | a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0025 others(8): Show |
11 | HG00323.hp1 HG00323.hp2 HG00733.hp2 others(8): Show |
intron_variant | MODIFIER | c.162-236_162-235del others(2): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241894573 | |||||||
| chr2:241894573 | TGGG | T | 9 | a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0026 others(6): Show |
9 | HG01070.hp1 HG01070.hp2 HG01515.hp2 others(6): Show |
intron_variant | MODIFIER | c.162-237_162-235del others(3): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241894573 | |||||||
| chr2:241894763 | C | T | 17 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(14): Show |
17 | HG00280.hp1 HG00323.hp2 HG00733.hp2 others(14): Show |
intron_variant | MODIFIER | c.162-424G>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241894763 | |||||||
| chr2:241894873 | C | T | 17 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(14): Show |
17 | HG00280.hp1 HG00323.hp2 HG00733.hp2 others(14): Show |
intron_variant | MODIFIER | c.162-534G>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241894873 | |||||||
| chr2:241894909 | C | T | 17 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(14): Show |
17 | HG00280.hp1 HG00323.hp2 HG00733.hp2 others(14): Show |
intron_variant | MODIFIER | c.162-570G>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241894909 | |||||||
| chr2:241895030 | T | C | 1 | a0002c0002t0001g0017 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.162-691A>G | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241895030 | |||||||
| chr2:241895058 | G | T | 3 | a0001c0001t0001g0016 a0002c0002t0001g0014 a0002c0002t0001g0015 |
3 | HG03195.hp1 HG03195.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.162-719C>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241895058 | |||||||
| chr2:241895100 | A | G | 20 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(17): Show |
20 | HG00280.hp1 HG00323.hp2 HG00733.hp2 others(17): Show |
intron_variant | MODIFIER | c.162-761T>C | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241895100 | |||||||
| chr2:241895160 | C | T | 17 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(14): Show |
17 | HG00280.hp1 HG00323.hp2 HG00733.hp2 others(14): Show |
intron_variant | MODIFIER | c.162-821G>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241895160 | |||||||
| chr2:241895269 | C | CT | 17 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(14): Show |
17 | HG00280.hp1 HG00323.hp2 HG00733.hp2 others(14): Show |
intron_variant | MODIFIER | c.162-931dupA | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241895269 | |||||||
| chr2:241895335 | C | T | 3 | a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 |
3 | HG01943.hp2 HG02273.hp2 NA18964.hp2 |
intron_variant | MODIFIER | c.162-996G>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241895335 | |||||||
| chr2:241895438 | G | A | 17 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(14): Show |
17 | HG00280.hp1 HG00323.hp2 HG00733.hp2 others(14): Show |
intron_variant | MODIFIER | c.162-1099C>T | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241895438 | |||||||
| chr2:241895459 | C | T | 17 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(14): Show |
17 | HG00280.hp1 HG00323.hp2 HG00733.hp2 others(14): Show |
intron_variant | MODIFIER | c.162-1120G>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241895459 | |||||||
| chr2:241895797 | G | A | 1 | a0001c0001t0001g0020 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.161+1389C>T | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241895797 | |||||||
| chr2:241895822 | GC | G | 3 | a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 |
3 | HG01943.hp2 HG02273.hp2 NA18964.hp2 |
intron_variant | MODIFIER | c.161+1363delG | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241895822 | |||||||
| chr2:241895963 | T | TG | 21 | a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0022 others(18): Show |
21 | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(18): Show |
intron_variant | MODIFIER | c.161+1222dupC | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241895963 | |||||||
| chr2:241895963 | T | TGG | 8 | a0001c0001t0001g0020 a0001c0001t0001g0030 a0001c0001t0001g0031 others(5): Show |
8 | HG00323.hp1 HG00733.hp2 HG03579.hp2 others(5): Show |
intron_variant | MODIFIER | c.161+1221_161+1222d others(4): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241895963 | |||||||
| chr2:241896115 | C | T | 1 | a0001c0001t0001g0021 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.161+1071G>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896115 | |||||||
| chr2:241896183 | G | A | 3 | a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0029 |
3 | HG00280.hp1 HG00323.hp2 HG01070.hp2 |
intron_variant | MODIFIER | c.161+1003C>T | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896183 | |||||||
| chr2:241896197 | A | G | 17 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(14): Show |
17 | HG00280.hp1 HG00323.hp2 HG00733.hp2 others(14): Show |
intron_variant | MODIFIER | c.161+989T>C | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896197 | |||||||
| chr2:241896254 | C | T | 16 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(13): Show |
16 | HG00280.hp1 HG00323.hp2 HG00733.hp2 others(13): Show |
intron_variant | MODIFIER | c.161+932G>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896254 | |||||||
| chr2:241896255 | G | A | 3 | a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 |
3 | HG01943.hp2 HG02273.hp2 NA18964.hp2 |
intron_variant | MODIFIER | c.161+931C>T | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896255 | |||||||
| chr2:241896350 | T | A | 2 | a0002c0002t0001g0018 a0002c0002t0001g0019 |
2 | HG01943.hp2 HG02273.hp2 |
intron_variant | MODIFIER | c.161+836A>T | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896350 | |||||||
| chr2:241896356 | G | A | 6 | a0001c0001t0001g0016 a0002c0002t0001g0014 a0002c0002t0001g0015 others(3): Show |
6 | HG01943.hp2 HG02273.hp2 HG03195.hp1 others(3): Show |
intron_variant | MODIFIER | c.161+830C>T | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896356 | |||||||
| chr2:241896358 | G | GGAGGAAG others(3): Show |
1 | a0001c0001t0001g0016 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.161+818_161+827dup others(10): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896358 | |||||||
| chr2:241896379 | A | C | 3 | a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 |
3 | HG01943.hp2 HG02273.hp2 NA18964.hp2 |
intron_variant | MODIFIER | c.161+807T>G | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896379 | |||||||
| chr2:241896391 | A | C | 8 | a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0006 others(5): Show |
8 | HG00280.hp2 HG00323.hp1 HG01070.hp1 others(5): Show |
intron_variant | MODIFIER | c.161+795T>G | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896391 | |||||||
| chr2:241896485 | G | A | 17 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(14): Show |
17 | HG00280.hp1 HG00323.hp2 HG00733.hp2 others(14): Show |
intron_variant | MODIFIER | c.161+701C>T | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896485 | |||||||
| chr2:241896497 | G | A | 1 | a0002c0002t0001g0008 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.161+689C>T | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896497 | |||||||
| chr2:241896500 | G | GTTGGGGG others(568): Show |
1 | a0002c0002t0001g0014 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.161+685_161+686ins others(575): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896500 | |||||||
| chr2:241896501 | A | G | 1 | a0002c0002t0001g0014 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.161+685T>C | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896501 | |||||||
| chr2:241896501 | A | T | 7 | a0001c0001t0001g0016 a0001c0001t0001g0035 a0001c0001t0001g0036 others(4): Show |
7 | HG00733.hp1 HG01257.hp1 HG01515.hp1 others(4): Show |
intron_variant | MODIFIER | c.161+685T>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896501 | |||||||
| chr2:241896502 | A | AGGGGGTG others(528): Show |
1 | a0002c0002t0001g0019 | 1 | HG02273.hp2 | intron_variant | MODIFIER | c.161+683_161+684ins others(535): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896502 | |||||||
| chr2:241896502 | A | AGGGGGTG others(3639): Show |
1 | a0002c0002t0003g0003 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.161+683_161+684ins others(3646): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896502 | |||||||
| chr2:241896502 | A | AGGGGGTG others(4367): Show |
1 | a0002c0002t0001g0004 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.161+683_161+684ins others(4374): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896502 | |||||||
| chr2:241896502 | A | AGGGGGTG others(4414): Show |
1 | a0002c0002t0001g0010 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.161+683_161+684ins others(4421): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896502 | |||||||
| chr2:241896502 | A | T | 7 | a0001c0001t0001g0016 a0001c0001t0001g0035 a0001c0001t0001g0036 others(4): Show |
7 | HG00733.hp1 HG01257.hp1 HG01515.hp1 others(4): Show |
intron_variant | MODIFIER | c.161+684T>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896502 | |||||||
| chr2:241896503 | G | A | 1 | a0002c0002t0001g0014 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.161+683C>T | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896503 | |||||||
| chr2:241896503 | G | GGGGGTGT others(7): Show |
2 | a0002c0002t0001g0017 a0002c0002t0001g0018 |
2 | HG01943.hp2 NA18964.hp2 |
intron_variant | MODIFIER | c.161+682_161+683ins others(14): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896503 | |||||||
| chr2:241896503 | G | GGGGTGTG others(20): Show |
1 | a0002c0002t0001g0013 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.161+682_161+683ins others(27): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896503 | |||||||
| chr2:241896503 | G | GGGGTGTG others(2075): Show |
1 | a0001c0001t0001g0037 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.161+682_161+683ins others(2082): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896503 | |||||||
| chr2:241896503 | G | GGGGTGTG others(1767): Show |
1 | a0001c0001t0001g0035 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.161+682_161+683ins others(1774): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896503 | |||||||
| chr2:241896503 | G | GGGGTGTG others(1767): Show |
1 | a0001c0001t0001g0036 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.161+682_161+683ins others(1774): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896503 | |||||||
| chr2:241896503 | G | GGGGTGTG others(1625): Show |
1 | a0002c0002t0001g0012 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.161+682_161+683ins others(1632): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896503 | |||||||
| chr2:241896512 | G | GGTGTGGG others(338): Show |
1 | a0002c0002t0001g0005 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.161+673_161+674ins others(345): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896512 | |||||||
| chr2:241896516 | T | A | 1 | a0002c0002t0001g0013 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.161+670A>T | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896516 | |||||||
| chr2:241896517 | T | A | 1 | a0002c0002t0001g0013 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.161+669A>T | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896517 | |||||||
| chr2:241896517 | T | G | 4 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(1): Show |
4 | HG00323.hp1 HG02273.hp1 NA18964.hp1 others(1): Show |
intron_variant | MODIFIER | c.161+669A>C | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896517 | |||||||
| chr2:241896517 | T | TGGGGGTG others(2206): Show |
1 | a0002c0002t0001g0015 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.161+668_161+669ins others(2213): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896517 | |||||||
| chr2:241896517 | T | TGGGGGTG others(751): Show |
1 | a0001c0001t0001g0016 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.161+668_161+669ins others(758): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896517 | |||||||
| chr2:241896517 | T | TGGGGTGT others(242): Show |
1 | a0001c0001t0001g0022 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.161+668_161+669ins others(249): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896517 | |||||||
| chr2:241896530 | T | TTGGGGGT others(1320): Show |
1 | a0002c0002t0001g0011 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.161+655_161+656ins others(1327): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896530 | |||||||
| chr2:241896531 | T | G | 4 | a0002c0002t0001g0005 a0002c0002t0001g0014 a0002c0002t0001g0017 others(1): Show |
4 | HG01943.hp2 HG03195.hp2 HG03834.hp1 others(1): Show |
intron_variant | MODIFIER | c.161+655A>C | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896531 | |||||||
| chr2:241896531 | T | TGGGGGTG others(352): Show |
2 | a0002c0002t0001g0007 a0002c0002t0001g0008 |
2 | HG02273.hp1 NA19004.hp2 |
intron_variant | MODIFIER | c.161+654_161+655ins others(359): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896531 | |||||||
| chr2:241896531 | T | TGGGGGTG others(2283): Show |
1 | a0002c0002t0001g0006 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.161+654_161+655ins others(2290): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896531 | |||||||
| chr2:241896540 | G | T | 1 | a0002c0002t0001g0004 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.161+646C>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896540 | |||||||
| chr2:241896545 | T | G | 7 | a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 others(4): Show |
7 | HG00733.hp1 HG01257.hp1 HG01515.hp1 others(4): Show |
intron_variant | MODIFIER | c.161+641A>C | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896545 | |||||||
| chr2:241896545 | T | TG | 3 | a0002c0002t0001g0013 a0002c0002t0001g0017 a0002c0002t0001g0018 |
3 | HG01943.hp2 HG02922.hp2 NA18964.hp2 |
intron_variant | MODIFIER | c.161+640dupC | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896545 | |||||||
| chr2:241896549 | G | A | 2 | a0002c0002t0001g0007 a0002c0002t0001g0008 |
2 | HG02273.hp1 NA19004.hp2 |
intron_variant | MODIFIER | c.161+637C>T | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896549 | |||||||
| chr2:241896554 | T | G | 15 | a0001c0001t0001g0016 a0001c0001t0001g0035 a0001c0001t0001g0036 others(12): Show |
15 | HG00323.hp1 HG00733.hp1 HG01070.hp1 others(12): Show |
intron_variant | MODIFIER | c.161+632A>C | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896554 | |||||||
| chr2:241896559 | T | G | 5 | a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 others(2): Show |
5 | HG00733.hp1 HG01257.hp1 HG01515.hp1 others(2): Show |
intron_variant | MODIFIER | c.161+627A>C | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896559 | |||||||
| chr2:241896559 | T | TGGGGTGT others(2031): Show |
1 | a0002c0002t0001g0013 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.161+626_161+627ins others(2038): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896559 | |||||||
| chr2:241896563 | G | A | 1 | a0002c0002t0001g0005 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.161+623C>T | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896563 | |||||||
| chr2:241896573 | G | GGGGGTGT others(1173): Show |
1 | a0001c0001t0001g0033 | 1 | HG01515.hp2 | intron_variant | MODIFIER | c.161+612_161+613ins others(1180): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896573 | |||||||
| chr2:241896573 | G | GGGGGTGT others(1157): Show |
1 | a0001c0001t0001g0032 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.161+612_161+613ins others(1164): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896573 | |||||||
| chr2:241896573 | G | T | 13 | a0001c0001t0001g0022 a0001c0001t0001g0035 a0001c0001t0001g0036 others(10): Show |
13 | HG00280.hp2 HG00733.hp1 HG01070.hp1 others(10): Show |
intron_variant | MODIFIER | c.161+613C>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896573 | |||||||
| chr2:241896582 | G | GGTGTTGG others(1242): Show |
1 | a0001c0001t0001g0030 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.161+603_161+604ins others(1249): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896582 | |||||||
| chr2:241896582 | G | GGTGTTGG others(1199): Show |
1 | a0001c0001t0001g0026 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.161+603_161+604ins others(1206): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896582 | |||||||
| chr2:241896582 | G | GGTGTTGG others(1199): Show |
1 | a0001c0001t0001g0024 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.161+603_161+604ins others(1206): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896582 | |||||||
| chr2:241896582 | G | GGTGTTGG others(1171): Show |
1 | a0001c0001t0001g0031 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.161+603_161+604ins others(1178): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896582 | |||||||
| chr2:241896582 | G | GGTGTTGG others(1213): Show |
1 | a0001c0001t0001g0029 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.161+603_161+604ins others(1220): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896582 | |||||||
| chr2:241896582 | G | GGTGTTGG others(1227): Show |
1 | a0001c0001t0001g0028 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.161+603_161+604ins others(1234): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896582 | |||||||
| chr2:241896582 | G | GGTGTTGG others(1227): Show |
1 | a0001c0001t0001g0021 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.161+603_161+604ins others(1234): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896582 | |||||||
| chr2:241896582 | G | GGTGTTGG others(1396): Show |
1 | a0001c0001t0001g0027 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.161+603_161+604ins others(1403): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896582 | |||||||
| chr2:241896582 | G | GGTGTTGG others(1241): Show |
1 | a0001c0001t0001g0025 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.161+603_161+604ins others(1248): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896582 | |||||||
| chr2:241896582 | G | T | 1 | a0002c0002t0001g0006 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.161+604C>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896582 | |||||||
| chr2:241896586 | T | TTGGGGTG others(1228): Show |
1 | a0002c0002t0001g0005 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.161+599_161+600ins others(1235): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896586 | |||||||
| chr2:241896587 | T | G | 4 | a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 others(1): Show |
4 | HG00733.hp1 HG01257.hp1 HG01515.hp1 others(1): Show |
intron_variant | MODIFIER | c.161+599A>C | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896587 | |||||||
| chr2:241896587 | T | TGGGGTGT others(158): Show |
1 | a0001c0001t0001g0020 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.161+598_161+599ins others(165): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896587 | |||||||
| chr2:241896596 | G | GGTGTTGG others(1199): Show |
1 | a0001c0001t0001g0023 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.161+589_161+590ins others(1206): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896596 | |||||||
| chr2:241896596 | G | GGTGTTGG others(1199): Show |
1 | a0001c0001t0001g0034 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.161+589_161+590ins others(1206): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896596 | |||||||
| chr2:241896599 | G | GTTGGGGG others(285): Show |
2 | a0002c0002t0002g0001 a0002c0002t0002g0002 |
2 | HG03041.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.161+586_161+587ins others(292): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896599 | |||||||
| chr2:241896600 | A | T | 29 | a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0021 others(26): Show |
29 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(26): Show |
intron_variant | MODIFIER | c.161+586T>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896600 | |||||||
| chr2:241896601 | A | AGGGGTGT others(1286): Show |
1 | a0002c0002t0001g0018 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.161+584_161+585ins others(1293): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896601 | |||||||
| chr2:241896601 | A | AGGGGTGT others(922): Show |
1 | a0001c0001t0001g0022 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.161+584_161+585ins others(929): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896601 | |||||||
| chr2:241896601 | A | G | 9 | a0001c0001t0001g0020 a0002c0002t0001g0007 a0002c0002t0001g0008 others(6): Show |
9 | HG00323.hp1 HG02273.hp1 HG02273.hp2 others(6): Show |
intron_variant | MODIFIER | c.161+585T>C | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896601 | |||||||
| chr2:241896601 | A | T | 24 | a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0023 others(21): Show |
24 | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(21): Show |
intron_variant | MODIFIER | c.161+585T>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896601 | |||||||
| chr2:241896615 | G | GGGGGTGT others(847): Show |
1 | a0002c0002t0001g0015 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.161+570_161+571ins others(854): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896615 | |||||||
| chr2:241896615 | G | GGGGGTGT others(3467): Show |
1 | a0002c0002t0001g0008 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.161+570_161+571ins others(3474): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896615 | |||||||
| chr2:241896615 | G | GGGGGTGT others(3468): Show |
1 | a0002c0002t0001g0007 | 1 | NA19004.hp2 | intron_variant | MODIFIER | c.161+570_161+571ins others(3475): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896615 | |||||||
| chr2:241896615 | G | T | 21 | a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0021 others(18): Show |
21 | HG00280.hp1 HG00323.hp2 HG00733.hp2 others(18): Show |
intron_variant | MODIFIER | c.161+571C>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896615 | |||||||
| chr2:241896629 | T | G | 3 | a0001c0001t0001g0020 a0002c0002t0001g0005 a0002c0002t0003g0003 |
3 | HG01070.hp1 HG03834.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.161+557A>C | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896629 | |||||||
| chr2:241896642 | A | T | 14 | a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0034 others(11): Show |
14 | HG00280.hp2 HG00323.hp1 HG01070.hp1 others(11): Show |
intron_variant | MODIFIER | c.161+544T>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896642 | |||||||
| chr2:241896643 | A | G | 3 | a0001c0001t0001g0016 a0002c0002t0001g0005 a0002c0002t0001g0019 |
3 | HG02273.hp2 HG03195.hp1 HG03834.hp1 |
intron_variant | MODIFIER | c.161+543T>C | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896643 | |||||||
| chr2:241896643 | A | T | 11 | a0001c0001t0001g0020 a0001c0001t0001g0034 a0002c0002t0001g0004 others(8): Show |
11 | HG00280.hp2 HG00323.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.161+543T>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896643 | |||||||
| chr2:241896649 | G | T | 1 | a0002c0002t0001g0012 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.161+537C>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896649 | |||||||
| chr2:241896656 | A | T | 25 | a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0022 others(22): Show |
25 | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(22): Show |
intron_variant | MODIFIER | c.161+530T>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896656 | |||||||
| chr2:241896657 | A | AGGGGTGT others(145): Show |
1 | a0002c0002t0001g0011 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.161+528_161+529ins others(152): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896657 | |||||||
| chr2:241896657 | A | G | 3 | a0002c0002t0001g0006 a0002c0002t0001g0014 a0002c0002t0001g0018 |
3 | HG01943.hp2 HG03195.hp2 NA18964.hp1 |
intron_variant | MODIFIER | c.161+529T>C | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896657 | |||||||
| chr2:241896657 | A | T | 22 | a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0022 others(19): Show |
22 | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(19): Show |
intron_variant | MODIFIER | c.161+529T>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896657 | |||||||
| chr2:241896661 | G | A | 1 | a0002c0002t0001g0017 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.161+525C>T | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896661 | |||||||
| chr2:241896663 | G | T | 4 | a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 others(1): Show |
4 | HG00733.hp1 HG01257.hp1 HG01515.hp1 others(1): Show |
intron_variant | MODIFIER | c.161+523C>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896663 | |||||||
| chr2:241896667 | G | T | 1 | a0002c0002t0001g0005 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.161+519C>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896667 | |||||||
| chr2:241896671 | T | G | 4 | a0001c0001t0001g0016 a0002c0002t0001g0007 a0002c0002t0001g0018 others(1): Show |
4 | HG01943.hp2 HG02273.hp2 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.161+515A>C | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896671 | |||||||
| chr2:241896684 | A | T | 28 | a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0022 others(25): Show |
28 | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(25): Show |
intron_variant | MODIFIER | c.161+502T>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896684 | |||||||
| chr2:241896685 | A | G | 10 | a0001c0001t0001g0016 a0001c0001t0001g0035 a0001c0001t0001g0036 others(7): Show |
10 | HG00733.hp1 HG01257.hp1 HG01515.hp1 others(7): Show |
intron_variant | MODIFIER | c.161+501T>C | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896685 | |||||||
| chr2:241896685 | A | T | 19 | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 others(16): Show |
19 | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(16): Show |
intron_variant | MODIFIER | c.161+501T>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896685 | |||||||
| chr2:241896694 | G | T | 3 | a0002c0002t0001g0004 a0002c0002t0001g0010 a0002c0002t0003g0003 |
3 | HG00280.hp2 HG01070.hp1 HG04184.hp2 |
intron_variant | MODIFIER | c.161+492C>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896694 | |||||||
| chr2:241896698 | T | A | 2 | a0002c0002t0002g0001 a0002c0002t0002g0002 |
2 | HG03041.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.161+488A>T | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896698 | |||||||
| chr2:241896699 | T | A | 2 | a0002c0002t0002g0001 a0002c0002t0002g0002 |
2 | HG03041.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.161+487A>T | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896699 | |||||||
| chr2:241896699 | T | G | 4 | a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 others(1): Show |
4 | HG00733.hp1 HG01257.hp1 HG01515.hp1 others(1): Show |
intron_variant | MODIFIER | c.161+487A>C | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896699 | |||||||
| chr2:241896708 | G | T | 1 | a0002c0002t0001g0014 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.161+478C>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896708 | |||||||
| chr2:241896711 | GT | G | 14 | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 others(11): Show |
14 | HG00280.hp1 HG00323.hp2 HG00733.hp2 others(11): Show |
intron_variant | MODIFIER | c.161+474delA | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896711 | |||||||
| chr2:241896712 | T | TGGGGGTG others(1701): Show |
1 | a0002c0002t0001g0017 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.161+473_161+474ins others(1708): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896712 | |||||||
| chr2:241896713 | TG | T | 9 | a0001c0001t0001g0020 a0002c0002t0001g0004 a0002c0002t0001g0007 others(6): Show |
9 | HG00280.hp2 HG01070.hp1 HG02273.hp1 others(6): Show |
intron_variant | MODIFIER | c.161+472delC | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896713 | |||||||
| chr2:241896714 | G | GGGGTGTG others(6): Show |
1 | a0002c0002t0001g0006 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.161+471_161+472ins others(13): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896714 | |||||||
| chr2:241896714 | G | GGGGTGTG others(694): Show |
1 | a0002c0002t0001g0018 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.161+471_161+472ins others(701): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896714 | |||||||
| chr2:241896714 | G | GGGGTGTG others(188): Show |
1 | a0002c0002t0001g0012 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.161+471_161+472ins others(195): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896714 | |||||||
| chr2:241896714 | G | GGGGTGTG others(1429): Show |
1 | a0002c0002t0002g0002 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.161+471_161+472ins others(1436): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896714 | |||||||
| chr2:241896714 | G | GGGGTGTG others(1319): Show |
1 | a0002c0002t0002g0001 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.161+471_161+472ins others(1326): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896714 | |||||||
| chr2:241896714 | G | GGGGTGTG others(202): Show |
1 | a0001c0001t0001g0036 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.161+471_161+472ins others(209): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896714 | |||||||
| chr2:241896714 | G | GGGGTGTG others(216): Show |
1 | a0002c0002t0001g0013 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.161+471_161+472ins others(223): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896714 | |||||||
| chr2:241896714 | G | GGGGTGTG others(215): Show |
1 | a0001c0001t0001g0037 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.161+471_161+472ins others(222): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896714 | |||||||
| chr2:241896714 | G | GGGGTGTG others(215): Show |
1 | a0001c0001t0001g0035 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.161+471_161+472ins others(222): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896714 | |||||||
| chr2:241896714 | G | T | 1 | a0002c0002t0001g0017 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.161+472C>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896714 | |||||||
| chr2:241896723 | T | G | 27 | a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0022 others(24): Show |
27 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(24): Show |
intron_variant | MODIFIER | c.161+463A>C | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896723 | |||||||
| chr2:241896728 | T | G | 2 | a0001c0001t0001g0016 a0002c0002t0001g0011 |
2 | HG00323.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.161+458A>C | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896728 | |||||||
| chr2:241896728 | T | TG | 4 | a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0010 others(1): Show |
4 | HG00280.hp2 HG01070.hp1 HG03834.hp1 others(1): Show |
intron_variant | MODIFIER | c.161+457dupC | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896728 | |||||||
| chr2:241896741 | A | G | 1 | a0001c0001t0001g0030 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.161+445T>C | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896741 | |||||||
| chr2:241896741 | A | T | 18 | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 others(15): Show |
18 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(15): Show |
intron_variant | MODIFIER | c.161+445T>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896741 | |||||||
| chr2:241896742 | A | G | 14 | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 others(11): Show |
14 | HG00280.hp1 HG00323.hp2 HG00733.hp2 others(11): Show |
intron_variant | MODIFIER | c.161+444T>C | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896742 | |||||||
| chr2:241896742 | A | T | 6 | a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0006 others(3): Show |
6 | HG00280.hp2 HG00323.hp1 HG01070.hp1 others(3): Show |
intron_variant | MODIFIER | c.161+444T>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896742 | |||||||
| chr2:241896751 | G | T | 5 | a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0017 others(2): Show |
5 | HG01943.hp2 HG02273.hp1 HG02273.hp2 others(2): Show |
intron_variant | MODIFIER | c.161+435C>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896751 | |||||||
| chr2:241896756 | T | TGGGATGT others(3602): Show |
1 | a0002c0002t0001g0014 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.161+429_161+430ins others(3609): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896756 | |||||||
| chr2:241896770 | T | G | 2 | a0001c0001t0001g0016 a0002c0002t0001g0005 |
2 | HG03195.hp1 HG03834.hp1 |
intron_variant | MODIFIER | c.161+416A>C | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896770 | |||||||
| chr2:241896782 | GA | G | 3 | a0001c0001t0001g0016 a0002c0002t0001g0006 a0002c0002t0001g0011 |
3 | HG00323.hp1 HG03195.hp1 NA18964.hp1 |
intron_variant | MODIFIER | c.161+403delT | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896782 | |||||||
| chr2:241896783 | A | T | 5 | a0002c0002t0001g0005 a0002c0002t0001g0007 a0002c0002t0001g0008 others(2): Show |
5 | HG01943.hp2 HG02273.hp1 HG03834.hp1 others(2): Show |
intron_variant | MODIFIER | c.161+403T>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896783 | |||||||
| chr2:241896784 | A | T | 8 | a0001c0001t0001g0016 a0002c0002t0001g0005 a0002c0002t0001g0006 others(5): Show |
8 | HG00323.hp1 HG01943.hp2 HG02273.hp1 others(5): Show |
intron_variant | MODIFIER | c.161+402T>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896784 | |||||||
| chr2:241896784 | AG | A | 3 | a0002c0002t0001g0015 a0002c0002t0002g0001 a0002c0002t0002g0002 |
3 | HG03041.hp2 HG03579.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.161+401delC | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896784 | |||||||
| chr2:241896785 | G | GGGGTGTG others(2351): Show |
1 | a0002c0002t0001g0019 | 1 | HG02273.hp2 | intron_variant | MODIFIER | c.161+400_161+401ins others(2358): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896785 | |||||||
| chr2:241896785 | G | T | 2 | a0001c0001t0001g0016 a0002c0002t0001g0006 |
2 | HG03195.hp1 NA18964.hp1 |
intron_variant | MODIFIER | c.161+401C>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896785 | |||||||
| chr2:241896791 | G | T | 2 | a0002c0002t0002g0001 a0002c0002t0002g0002 |
2 | HG03041.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.161+395C>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896791 | |||||||
| chr2:241896799 | T | G | 1 | a0002c0002t0001g0011 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.161+387A>C | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896799 | |||||||
| chr2:241896802 | GGTGTGGG others(1): Show |
G | 3 | a0002c0002t0001g0004 a0002c0002t0001g0010 a0002c0002t0003g0003 |
3 | HG00280.hp2 HG01070.hp1 HG04184.hp2 |
intron_variant | MODIFIER | c.161+376_161+383del others(8): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896802 | |||||||
| chr2:241896810 | T | TGAAGGGG others(15): Show |
1 | a0002c0002t0001g0006 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.161+375_161+376ins others(22): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896810 | |||||||
| chr2:241896810 | T | TGAAGGGG others(1538): Show |
1 | a0001c0001t0001g0020 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.161+375_161+376ins others(1545): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896810 | |||||||
| chr2:241896810 | T | TGTGGGGG others(321): Show |
1 | a0002c0002t0001g0014 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.161+375_161+376ins others(328): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896810 | |||||||
| chr2:241896810 | T | TGTTGGGG others(489): Show |
1 | a0001c0001t0001g0025 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.161+375_161+376ins others(496): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896810 | |||||||
| chr2:241896810 | T | TGTTGGGG others(505): Show |
1 | a0001c0001t0001g0033 | 1 | HG01515.hp2 | intron_variant | MODIFIER | c.161+375_161+376ins others(512): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896810 | |||||||
| chr2:241896810 | T | TGTTGGGG others(349): Show |
1 | a0001c0001t0001g0024 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.161+375_161+376ins others(356): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896810 | |||||||
| chr2:241896810 | T | TGTTGGGG others(489): Show |
2 | a0001c0001t0001g0031 a0001c0001t0001g0034 |
2 | HG00733.hp2 HG04184.hp1 |
intron_variant | MODIFIER | c.161+375_161+376ins others(496): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896810 | |||||||
| chr2:241896810 | T | TGTTGGGG others(503): Show |
5 | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0027 others(2): Show |
5 | HG01070.hp2 HG01943.hp1 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.161+375_161+376ins others(510): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896810 | |||||||
| chr2:241896810 | T | TGTTGGGG others(489): Show |
1 | a0001c0001t0001g0026 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.161+375_161+376ins others(496): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896810 | |||||||
| chr2:241896810 | T | TGTTGGGG others(475): Show |
2 | a0001c0001t0001g0023 a0001c0001t0001g0029 |
2 | HG00280.hp1 HG00323.hp2 |
intron_variant | MODIFIER | c.161+375_161+376ins others(482): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896810 | |||||||
| chr2:241896810 | T | TGTTGGGG others(503): Show |
1 | a0001c0001t0001g0028 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.161+375_161+376ins others(510): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896810 | |||||||
| chr2:241896810 | T | TGTTGGGG others(154): Show |
2 | a0002c0002t0002g0001 a0002c0002t0002g0002 |
2 | HG03041.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.161+375_161+376ins others(161): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896810 | |||||||
| chr2:241896810 | T | TGTTGGGG others(42): Show |
2 | a0002c0002t0001g0007 a0002c0002t0001g0008 |
2 | HG02273.hp1 NA19004.hp2 |
intron_variant | MODIFIER | c.161+375_161+376ins others(49): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896810 | |||||||
| chr2:241896810 | T | TGTTGGGG others(1539): Show |
1 | a0002c0002t0001g0015 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.161+375_161+376ins others(1546): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896810 | |||||||
| chr2:241896810 | T | TGTTGGGG others(889): Show |
1 | a0002c0002t0001g0017 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.161+375_161+376ins others(896): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896810 | |||||||
| chr2:241896810 | T | TGTTGGGG others(939): Show |
1 | a0002c0002t0001g0018 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.161+375_161+376ins others(946): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896810 | |||||||
| chr2:241896814 | T | G | 1 | a0001c0001t0001g0016 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.161+372A>C | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896814 | |||||||
| chr2:241896820 | T | TGGTGTGG others(2584): Show |
1 | a0001c0001t0001g0016 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.161+365_161+366ins others(2591): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896820 | |||||||
| chr2:241896825 | G | T | 1 | a0001c0001t0001g0021 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.161+361C>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896825 | |||||||
| chr2:241896834 | T | A | 6 | a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0007 others(3): Show |
6 | HG00280.hp2 HG01070.hp1 HG02273.hp1 others(3): Show |
intron_variant | MODIFIER | c.161+352A>T | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896834 | |||||||
| chr2:241896835 | T | A | 6 | a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0007 others(3): Show |
6 | HG00280.hp2 HG01070.hp1 HG02273.hp1 others(3): Show |
intron_variant | MODIFIER | c.161+351A>T | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896835 | |||||||
| chr2:241896835 | T | TGGGGGGT others(2260): Show |
1 | a0002c0002t0001g0005 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.161+350_161+351ins others(2267): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896835 | |||||||
| chr2:241896839 | G | GTGTGGGT others(21): Show |
1 | a0001c0001t0001g0020 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.161+346_161+347ins others(28): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896839 | |||||||
| chr2:241896839 | G | T | 2 | a0002c0002t0001g0014 a0002c0002t0001g0015 |
2 | HG03195.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.161+347C>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896839 | |||||||
| chr2:241896848 | A | T | 1 | a0002c0002t0001g0011 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.161+338T>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896848 | |||||||
| chr2:241896849 | A | T | 1 | a0002c0002t0001g0011 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.161+337T>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896849 | |||||||
| chr2:241896860 | T | G | 3 | a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 |
3 | HG01943.hp2 HG02273.hp2 NA18964.hp2 |
intron_variant | MODIFIER | c.161+326A>C | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896860 | |||||||
| chr2:241896864 | G | GGGGTGTG others(2603): Show |
1 | a0002c0002t0001g0011 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.161+321_161+322ins others(2610): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896864 | |||||||
| chr2:241896870 | G | T | 4 | a0001c0001t0001g0016 a0001c0001t0001g0020 a0002c0002t0001g0014 others(1): Show |
4 | HG03195.hp1 HG03195.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.161+316C>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896870 | |||||||
| chr2:241896935 | C | G | 5 | a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0017 others(2): Show |
5 | HG01943.hp2 HG02273.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.161+251G>C | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896935 | |||||||
| chr2:241896944 | C | A | 2 | a0002c0002t0001g0014 a0002c0002t0001g0015 |
2 | HG03195.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.161+242G>T | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896944 | |||||||
| chr2:241896990 | C | G | 15 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(12): Show |
15 | HG00280.hp1 HG00323.hp2 HG00733.hp2 others(12): Show |
intron_variant | MODIFIER | c.161+196G>C | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896990 | |||||||
| chr2:241896991 | G | A | 1 | a0001c0001t0001g0016 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.161+195C>T | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896991 | |||||||
| chr2:241897131 | T | A | 1 | a0002c0002t0001g0011 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.161+55A>T | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241897131 | |||||||
| chr2:241897145 | C | G | 1 | a0002c0002t0001g0014 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.161+41G>C | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241897145 | |||||||
| chr2:241897451 | C | T | 1 | a0002c0002t0002g0001 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.13-117G>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 1/2 | chr2 | 241897451 | |||||||
| chr2:241897463 | T | G | 31 | a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0021 others(28): Show |
31 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(28): Show |
intron_variant | MODIFIER | c.13-129A>C | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 1/2 | chr2 | 241897463 | |||||||
| chr2:241897539 | G | A | 2 | a0002c0002t0001g0014 a0002c0002t0001g0015 |
2 | HG03195.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.13-205C>T | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 1/2 | chr2 | 241897539 | |||||||
| chr2:241897823 | C | T | 8 | a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0006 others(5): Show |
8 | HG00280.hp2 HG00323.hp1 HG01070.hp1 others(5): Show |
intron_variant | MODIFIER | c.13-489G>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 1/2 | chr2 | 241897823 | |||||||
| chr2:241897896 | A | G | 16 | a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0021 others(13): Show |
16 | HG00280.hp1 HG00323.hp2 HG00733.hp2 others(13): Show |
intron_variant | MODIFIER | c.13-562T>C | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 1/2 | chr2 | 241897896 | |||||||
| chr2:241897974 | G | A | 16 | a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0021 others(13): Show |
16 | HG00280.hp1 HG00323.hp2 HG00733.hp2 others(13): Show |
intron_variant | MODIFIER | c.13-640C>T | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 1/2 | chr2 | 241897974 | |||||||
| chr2:241898145 | A | C | 8 | a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0006 others(5): Show |
8 | HG00280.hp2 HG00323.hp1 HG01070.hp1 others(5): Show |
intron_variant | MODIFIER | c.13-811T>G | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 1/2 | chr2 | 241898145 | |||||||
| chr2:241898409 | G | A | 8 | a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0006 others(5): Show |
8 | HG00280.hp2 HG00323.hp1 HG01070.hp1 others(5): Show |
intron_variant | MODIFIER | c.13-1075C>T | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 1/2 | chr2 | 241898409 | |||||||
| chr2:241898544 | TCAAA | T | 18 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(15): Show |
18 | HG00280.hp1 HG00323.hp2 HG00733.hp2 others(15): Show |
intron_variant | MODIFIER | c.13-1214_13-1211del others(4): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 1/2 | chr2 | 241898544 | |||||||
| chr2:241898614 | GCC | G | 29 | a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0021 others(26): Show |
29 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(26): Show |
intron_variant | MODIFIER | c.13-1282_13-1281del others(2): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 1/2 | chr2 | 241898614 | |||||||
| chr2:241898635 | T | A | 3 | a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 |
3 | HG01943.hp2 HG02273.hp2 NA18964.hp2 |
intron_variant | MODIFIER | c.13-1301A>T | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 1/2 | chr2 | 241898635 | |||||||
| chr2:241898948 | G | T | 1 | a0002c0002t0001g0004 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.12+1410C>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 1/2 | chr2 | 241898948 | |||||||
| chr2:241898952 | C | T | 3 | a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 |
3 | HG01943.hp2 HG02273.hp2 NA18964.hp2 |
intron_variant | MODIFIER | c.12+1406G>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 1/2 | chr2 | 241898952 | |||||||
| chr2:241899054 | C | T | 1 | a0001c0001t0001g0016 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.12+1304G>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 1/2 | chr2 | 241899054 | |||||||
| chr2:241899088 | C | A | 1 | a0002c0002t0002g0002 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.12+1270G>T | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 1/2 | chr2 | 241899088 | |||||||
| chr2:241899312 | G | A | 1 | a0001c0001t0001g0016 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.12+1046C>T | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 1/2 | chr2 | 241899312 | |||||||
| chr2:241899324 | C | T | 4 | a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0002g0001 others(1): Show |
4 | HG02922.hp2 HG03041.hp1 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.12+1034G>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 1/2 | chr2 | 241899324 | |||||||
| chr2:241899377 | C | T | 1 | a0001c0001t0001g0016 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.12+981G>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 1/2 | chr2 | 241899377 | |||||||
| chr2:241899552 | C | A | 1 | a0001c0001t0001g0016 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.12+806G>T | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 1/2 | chr2 | 241899552 | |||||||
| chr2:241899665 | G | C | 1 | a0001c0001t0001g0016 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.12+693C>G | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 1/2 | chr2 | 241899665 | |||||||
| chr2:241899783 | C | T | 11 | a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0006 others(8): Show |
11 | HG00280.hp2 HG00323.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.12+575G>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 1/2 | chr2 | 241899783 | |||||||
| chr2:241899794 | G | A | 3 | a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 |
3 | HG01943.hp2 HG02273.hp2 NA18964.hp2 |
intron_variant | MODIFIER | c.12+564C>T | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 1/2 | chr2 | 241899794 | |||||||
| chr2:241900045 | C | G | 18 | a0001c0001t0001g0016 a0002c0002t0001g0004 a0002c0002t0001g0005 others(15): Show |
18 | HG00280.hp2 HG00323.hp1 HG01070.hp1 others(15): Show |
intron_variant | MODIFIER | c.12+313G>C | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 1/2 | chr2 | 241900045 |