Item | Value |
---|---|
geneid | 728340 |
ensemblid | ENSG00000183474.16 |
hgncid | 31394 |
symbol | GTF2H2C |
name | GTF2H2 family member C |
refseq_nuc | NM_001376000.2 |
refseq_prot | NP_001362929.1 |
ensembl_nuc | ENST00000380729.8 |
ensembl_prot | ENSP00000370105.3 |
mane_status | MANE Select |
chr | chr5 |
start | 69560191 |
end | 69595221 |
strand | + |
ver | v1.2 |
region | chr5:69560191-69595221 |
region5000 | chr5:69555191-69600221 |
regionname0 | GTF2H2C_chr5_69560191_69595221 |
regionname5000 | GTF2H2C_chr5_69555191_69600221 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 0/1 | 395 | 152 | 45 | 35 | 44 | 6 | 21 | 29 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | MDEEP others(390): Show |
chr5 | 69555191 | 69600221 |
a0002 | 0/0 | 395 | 13 | 4 | 5 | 3 | 0 | 1 | 2 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | MDEEP others(390): Show |
chr5 | 69555191 | 69600221 |
a0003 | 0/0 | 395 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | MDEEP others(390): Show |
chr5 | 69555191 | 69600221 |
a0004 | 0/0 | 395 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | MDEEP others(390): Show |
chr5 | 69555191 | 69600221 |
achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 0/1 | 1185 | 113 | 39 | 24 | 27 | 5 | 17 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | ATGGA others(1180): Show |
chr5 | 69555191 | 69600221 | ||
a0001c0002 | 0/0 | 1185 | 38 | 6 | 11 | 16 | 1 | 4 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | ATGGA others(1180): Show |
chr5 | 69555191 | 69600221 | ||
a0001c0006 | 0/0 | 1185 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | ATGGA others(1180): Show |
chr5 | 69555191 | 69600221 | ||
a0002c0003 | 0/0 | 1185 | 6 | 0 | 3 | 2 | 0 | 1 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | ATGGA others(1180): Show |
chr5 | 69555191 | 69600221 | ||
a0002c0004 | 0/0 | 1185 | 5 | 4 | 1 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | ATGGA others(1180): Show |
chr5 | 69555191 | 69600221 | ||
a0002c0005 | 0/0 | 1185 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | ATGGA others(1180): Show |
chr5 | 69555191 | 69600221 | ||
a0002c0009 | 0/0 | 1185 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | ATGGA others(1180): Show |
chr5 | 69555191 | 69600221 | ||
a0003c0007 | 0/0 | 1185 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | ATGGA others(1180): Show |
chr5 | 69555191 | 69600221 | ||
a0004c0008 | 0/0 | 1185 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | ATGGA others(1180): Show |
chr5 | 69555191 | 69600221 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 0/0 | 4553 | 15 | 4 | 3 | 5 | 2 | 1 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4548): Show |
chr5 | 69555191 | 69600221 |
a0001c0001t0002 | 0/0 | 4555 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4550): Show |
chr5 | 69555191 | 69600221 |
a0001c0001t0003 | 0/0 | 4559 | 9 | 3 | 2 | 2 | 0 | 2 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4554): Show |
chr5 | 69555191 | 69600221 |
a0001c0001t0004 | 0/0 | 4554 | 6 | 0 | 2 | 1 | 0 | 3 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4549): Show |
chr5 | 69555191 | 69600221 |
a0001c0001t0008 | 0/0 | 4561 | 4 | 0 | 1 | 2 | 0 | 1 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4556): Show |
chr5 | 69555191 | 69600221 |
a0001c0001t0009 | 0/0 | 4557 | 4 | 2 | 1 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4552): Show |
chr5 | 69555191 | 69600221 |
a0001c0001t0010 | 0/0 | 4558 | 4 | 4 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4553): Show |
chr5 | 69555191 | 69600221 |
a0001c0001t0012 | 0/0 | 4555 | 3 | 0 | 2 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4550): Show |
chr5 | 69555191 | 69600221 |
a0001c0001t0013 | 0/0 | 4555 | 3 | 0 | 1 | 1 | 0 | 1 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4550): Show |
chr5 | 69555191 | 69600221 |
a0001c0001t0014 | 0/0 | 4560 | 3 | 0 | 0 | 1 | 0 | 2 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4555): Show |
chr5 | 69555191 | 69600221 |
a0001c0001t0015 | 0/0 | 4557 | 3 | 3 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4552): Show |
chr5 | 69555191 | 69600221 |
a0001c0001t0016 | 0/0 | 4557 | 2 | 0 | 1 | 0 | 1 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4552): Show |
chr5 | 69555191 | 69600221 |
a0001c0001t0017 | 0/0 | 4558 | 2 | 1 | 1 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4553): Show |
chr5 | 69555191 | 69600221 |
a0001c0001t0020 | 0/0 | 4560 | 2 | 0 | 2 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4555): Show |
chr5 | 69555191 | 69600221 |
a0001c0001t0021 | 0/0 | 4556 | 2 | 0 | 0 | 1 | 0 | 1 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4551): Show |
chr5 | 69555191 | 69600221 |
a0001c0001t0022 | 0/0 | 4563 | 2 | 0 | 1 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4558): Show |
chr5 | 69555191 | 69600221 |
a0001c0001t0023 | 0/0 | 4561 | 2 | 0 | 0 | 2 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4556): Show |
chr5 | 69555191 | 69600221 |
a0001c0001t0024 | 0/0 | 4554 | 2 | 2 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4549): Show |
chr5 | 69555191 | 69600221 |
a0001c0001t0025 | 0/0 | 4548 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4543): Show |
chr5 | 69555191 | 69600221 |
a0001c0001t0028 | 0/0 | 4557 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4552): Show |
chr5 | 69555191 | 69600221 |
a0001c0001t0029 | 0/0 | 4562 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4557): Show |
chr5 | 69555191 | 69600221 |
a0001c0001t0030 | 0/0 | 4560 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4555): Show |
chr5 | 69555191 | 69600221 |
a0001c0001t0031 | 0/0 | 4558 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4553): Show |
chr5 | 69555191 | 69600221 |
a0001c0001t0032 | 0/0 | 4554 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4549): Show |
chr5 | 69555191 | 69600221 |
a0001c0001t0033 | 0/0 | 4561 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4556): Show |
chr5 | 69555191 | 69600221 |
a0001c0001t0034 | 0/0 | 4561 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4556): Show |
chr5 | 69555191 | 69600221 |
a0001c0001t0035 | 0/0 | 4559 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4554): Show |
chr5 | 69555191 | 69600221 |
a0001c0001t0036 | 0/1 | 4553 | 1 | 0 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4548): Show |
chr5 | 69555191 | 69600221 |
a0001c0001t0037 | 0/0 | 4546 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4541): Show |
chr5 | 69555191 | 69600221 |
a0001c0001t0039 | 0/0 | 4588 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4583): Show |
chr5 | 69555191 | 69600221 |
a0001c0001t0040 | 0/0 | 4556 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4551): Show |
chr5 | 69555191 | 69600221 |
a0001c0001t0041 | 0/0 | 4554 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4549): Show |
chr5 | 69555191 | 69600221 |
a0001c0001t0045 | 0/0 | 4537 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4532): Show |
chr5 | 69555191 | 69600221 |
a0001c0001t0046 | 0/0 | 4536 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4531): Show |
chr5 | 69555191 | 69600221 |
a0001c0001t0054 | 0/0 | 4557 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4552): Show |
chr5 | 69555191 | 69600221 |
a0001c0001t0055 | 0/0 | 4559 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4554): Show |
chr5 | 69555191 | 69600221 |
a0001c0001t0056 | 0/0 | 4560 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4555): Show |
chr5 | 69555191 | 69600221 |
a0001c0001t0057 | 0/0 | 4560 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4555): Show |
chr5 | 69555191 | 69600221 |
a0001c0001t0058 | 0/0 | 4557 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4552): Show |
chr5 | 69555191 | 69600221 |
a0001c0001t0059 | 0/0 | 4561 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4556): Show |
chr5 | 69555191 | 69600221 |
a0001c0001t0061 | 0/0 | 4562 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4557): Show |
chr5 | 69555191 | 69600221 |
a0001c0001t0062 | 0/0 | 4558 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4553): Show |
chr5 | 69555191 | 69600221 |
a0001c0001t0063 | 0/0 | 4558 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4553): Show |
chr5 | 69555191 | 69600221 |
a0001c0001t0064 | 0/0 | 4557 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4552): Show |
chr5 | 69555191 | 69600221 |
a0001c0001t0065 | 0/0 | 4558 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4553): Show |
chr5 | 69555191 | 69600221 |
a0001c0001t0066 | 0/0 | 4554 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4549): Show |
chr5 | 69555191 | 69600221 |
a0001c0001t0067 | 0/0 | 4554 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4549): Show |
chr5 | 69555191 | 69600221 |
a0001c0001t0068 | 0/0 | 4552 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4547): Show |
chr5 | 69555191 | 69600221 |
a0001c0001t0069 | 0/0 | 4565 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4560): Show |
chr5 | 69555191 | 69600221 |
a0001c0001t0070 | 0/0 | 4559 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4554): Show |
chr5 | 69555191 | 69600221 |
a0001c0001t0071 | 0/0 | 4561 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4556): Show |
chr5 | 69555191 | 69600221 |
a0001c0001t0072 | 0/0 | 4555 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4550): Show |
chr5 | 69555191 | 69600221 |
a0001c0001t0073 | 0/0 | 4556 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4551): Show |
chr5 | 69555191 | 69600221 |
a0001c0001t0074 | 0/0 | 4557 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4552): Show |
chr5 | 69555191 | 69600221 |
a0001c0001t0075 | 0/0 | 4559 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4554): Show |
chr5 | 69555191 | 69600221 |
a0001c0001t0076 | 0/0 | 4554 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4549): Show |
chr5 | 69555191 | 69600221 |
a0001c0001t0077 | 0/0 | 4554 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4549): Show |
chr5 | 69555191 | 69600221 |
a0001c0001t0078 | 0/0 | 4552 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4547): Show |
chr5 | 69555191 | 69600221 |
a0001c0001t0079 | 0/0 | 4553 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4548): Show |
chr5 | 69555191 | 69600221 |
a0001c0001t0082 | 0/0 | 4556 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4551): Show |
chr5 | 69555191 | 69600221 |
a0001c0001t0083 | 0/0 | 4559 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4554): Show |
chr5 | 69555191 | 69600221 |
a0001c0001t0084 | 0/0 | 4555 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4550): Show |
chr5 | 69555191 | 69600221 |
a0001c0002t0002 | 0/0 | 4555 | 12 | 3 | 6 | 3 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4550): Show |
chr5 | 69555191 | 69600221 |
a0001c0002t0004 | 0/0 | 4554 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4549): Show |
chr5 | 69555191 | 69600221 |
a0001c0002t0005 | 0/0 | 4556 | 5 | 0 | 1 | 3 | 0 | 1 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4551): Show |
chr5 | 69555191 | 69600221 |
a0001c0002t0007 | 0/0 | 4557 | 4 | 1 | 0 | 3 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4552): Show |
chr5 | 69555191 | 69600221 |
a0001c0002t0018 | 0/0 | 4558 | 2 | 0 | 0 | 2 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4553): Show |
chr5 | 69555191 | 69600221 |
a0001c0002t0019 | 0/0 | 4558 | 2 | 0 | 0 | 2 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4553): Show |
chr5 | 69555191 | 69600221 |
a0001c0002t0025 | 0/0 | 4548 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4543): Show |
chr5 | 69555191 | 69600221 |
a0001c0002t0026 | 0/0 | 4555 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4550): Show |
chr5 | 69555191 | 69600221 |
a0001c0002t0027 | 0/0 | 4554 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4549): Show |
chr5 | 69555191 | 69600221 |
a0001c0002t0038 | 0/0 | 4553 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4548): Show |
chr5 | 69555191 | 69600221 |
a0001c0002t0047 | 0/0 | 4561 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4556): Show |
chr5 | 69555191 | 69600221 |
a0001c0002t0048 | 0/0 | 4560 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4555): Show |
chr5 | 69555191 | 69600221 |
a0001c0002t0049 | 0/0 | 4561 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4556): Show |
chr5 | 69555191 | 69600221 |
a0001c0002t0050 | 0/0 | 4561 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4556): Show |
chr5 | 69555191 | 69600221 |
a0001c0002t0051 | 0/0 | 4553 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4548): Show |
chr5 | 69555191 | 69600221 |
a0001c0002t0052 | 0/0 | 4543 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4538): Show |
chr5 | 69555191 | 69600221 |
a0001c0002t0053 | 0/0 | 4556 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4551): Show |
chr5 | 69555191 | 69600221 |
a0001c0002t0085 | 0/0 | 4555 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4550): Show |
chr5 | 69555191 | 69600221 |
a0001c0006t0005 | 0/0 | 4556 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4551): Show |
chr5 | 69555191 | 69600221 |
a0002c0003t0006 | 0/0 | 4536 | 4 | 0 | 3 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4531): Show |
chr5 | 69555191 | 69600221 |
a0002c0003t0080 | 0/0 | 4537 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4532): Show |
chr5 | 69555191 | 69600221 |
a0002c0003t0081 | 0/0 | 4536 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4531): Show |
chr5 | 69555191 | 69600221 |
a0002c0004t0011 | 0/0 | 4555 | 3 | 3 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4550): Show |
chr5 | 69555191 | 69600221 |
a0002c0004t0042 | 0/0 | 4555 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4550): Show |
chr5 | 69555191 | 69600221 |
a0002c0004t0043 | 0/0 | 4556 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4551): Show |
chr5 | 69555191 | 69600221 |
a0002c0005t0006 | 0/0 | 4536 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4531): Show |
chr5 | 69555191 | 69600221 |
a0002c0009t0044 | 0/0 | 4553 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4548): Show |
chr5 | 69555191 | 69600221 |
a0003c0007t0060 | 0/0 | 4562 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4557): Show |
chr5 | 69555191 | 69600221 |
a0004c0008t0001 | 0/0 | 4553 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | GGAGA others(4548): Show |
chr5 | 69555191 | 69600221 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0005 | 0/0 | 2 | 1 | 0 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0001g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0001g0025 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0001g0026 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0001g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0001g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0001g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0001g0046 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0001g0047 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0001g0050 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0001g0063 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0001g0064 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0001g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0001g0068 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0002g0108 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0003g0004 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0003g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0003g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0003g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0003g0052 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0003g0054 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0003g0056 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0003g0070 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0003g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0004g0024 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0004g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0004g0044 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0004g0045 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0004g0078 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0004g0082 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0008g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0008g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0008g0053 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0008g0055 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0009g0062 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0009g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0009g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0009g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0010g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0010g0137 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0010g0140 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0010g0145 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0012g0023 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0012g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0012g0079 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0013g0020 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0013g0037 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0013g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0014g0004 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0014g0021 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0014g0051 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0015g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0015g0141 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0015g0144 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0016g0095 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0016g0096 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0017g0090 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0017g0101 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0020g0057 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0020g0080 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0021g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0021g0067 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0022g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0022g0081 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0023g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0023g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0024g0139 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0024g0142 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0025g0038 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0028g0089 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0029g0121 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0030g0091 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0031g0098 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0032g0099 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0033g0009 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0034g0009 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0035g0097 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0036g0083 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0037g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0039g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0040g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0041g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0045g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0046g0125 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0054g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0055g0059 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0056g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0057g0122 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0058g0124 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0059g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0061g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0062g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0063g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0064g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0065g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0066g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0067g0134 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0068g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0069g0146 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0070g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0071g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0072g0143 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0073g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0074g0066 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0075g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0076g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0077g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0078g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0079g0031 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0082g0147 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0083g0086 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0001t0084g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0002t0002g0002 | 0/0 | 3 | 0 | 2 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0002t0002g0003 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0002t0002g0011 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0002t0002g0102 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0002t0002g0115 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0002t0002g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0002t0002g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0002t0004g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0002t0005g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0002t0005g0010 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0002t0005g0012 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0002t0005g0109 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0002t0005g0111 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0002t0007g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0002t0007g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0002t0007g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0002t0007g0114 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0002t0018g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0002t0018g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0002t0019g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0002t0019g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0002t0025g0071 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0002t0026g0104 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0002t0027g0010 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0002t0038g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0002t0047g0106 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0002t0048g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0002t0049g0002 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0002t0050g0105 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0002t0051g0001 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0002t0052g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0002t0053g0119 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0002t0085g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0001c0006t0005g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0002c0003t0006g0013 | 0/0 | 2 | 0 | 1 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0002c0003t0006g0127 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0002c0003t0006g0129 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0002c0003t0080g0131 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0002c0003t0081g0130 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0002c0004t0011g0088 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0002c0004t0011g0092 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0002c0004t0011g0100 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0002c0004t0042g0094 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0002c0004t0043g0093 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0002c0005t0006g0128 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0002c0009t0044g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0003c0007t0060g0004 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
a0004c0008t0001g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00099 | hp1 | a0001 | c0001 | t0001 | g0050 | EUR | GBR | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG00099 | hp2 | a0001 | c0001 | t0034 | g0009 | EUR | GBR | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG00423 | hp1 | a0001 | c0001 | t0022 | g0039 | EAS | CHS | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG00423 | hp2 | a0001 | c0001 | t0012 | g0072 | EAS | CHS | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG00544 | hp1 | a0001 | c0001 | t0075 | g0027 | EAS | CHS | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG00544 | hp2 | a0001 | c0001 | t0009 | g0074 | EAS | CHS | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG00609 | hp1 | a0001 | c0002 | t0002 | g0117 | EAS | CHS | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG00609 | hp2 | a0001 | c0001 | t0014 | g0004 | EAS | CHS | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG00642 | hp1 | a0001 | c0001 | t0022 | g0081 | AMR | PUR | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG00642 | hp2 | a0001 | c0001 | t0082 | g0147 | AMR | PUR | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG01074 | hp1 | a0001 | c0001 | t0001 | g0025 | AMR | PUR | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG01074 | hp2 | a0001 | c0001 | t0057 | g0122 | AMR | PUR | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG01081 | hp1 | a0001 | c0001 | t0016 | g0095 | AMR | PUR | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG01081 | hp2 | a0002 | c0005 | t0006 | g0128 | AMR | PUR | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG01168 | hp1 | a0001 | c0002 | t0027 | g0010 | AMR | PUR | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG01168 | hp2 | a0001 | c0001 | t0001 | g0026 | AMR | PUR | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG01169 | hp1 | a0001 | c0002 | t0002 | g0102 | AMR | PUR | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG01169 | hp2 | a0001 | c0002 | t0026 | g0104 | AMR | PUR | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG01175 | hp1 | a0001 | c0001 | t0004 | g0024 | AMR | PUR | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG01175 | hp2 | a0001 | c0001 | t0029 | g0121 | AMR | PUR | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG01192 | hp1 | a0001 | c0001 | t0033 | g0009 | AMR | PUR | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG01192 | hp2 | a0001 | c0001 | t0012 | g0023 | AMR | PUR | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG01255 | hp1 | a0001 | c0001 | t0020 | g0080 | AMR | CLM | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG01255 | hp2 | a0001 | c0001 | t0055 | g0059 | AMR | CLM | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG01256 | hp1 | a0002 | c0004 | t0042 | g0094 | AMR | CLM | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG01256 | hp2 | a0001 | c0002 | t0002 | g0011 | AMR | CLM | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG01258 | hp1 | a0001 | c0002 | t0002 | g0011 | AMR | CLM | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG01258 | hp2 | a0002 | c0003 | t0006 | g0013 | AMR | CLM | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG01358 | hp1 | a0001 | c0002 | t0050 | g0105 | AMR | CLM | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG01358 | hp2 | a0001 | c0001 | t0020 | g0057 | AMR | CLM | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG01433 | hp1 | a0001 | c0002 | t0049 | g0002 | AMR | CLM | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG01433 | hp2 | a0001 | c0001 | t0032 | g0099 | AMR | CLM | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG01496 | hp1 | a0001 | c0001 | t0001 | g0046 | AMR | CLM | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG01496 | hp2 | a0001 | c0002 | t0002 | g0115 | AMR | CLM | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG01928 | hp1 | a0002 | c0003 | t0006 | g0127 | AMR | PEL | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG01928 | hp2 | a0001 | c0002 | t0002 | g0002 | AMR | PEL | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG01952 | hp1 | a0001 | c0001 | t0004 | g0078 | AMR | PEL | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG01952 | hp2 | a0001 | c0002 | t0005 | g0010 | AMR | PEL | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG01975 | hp1 | a0001 | c0001 | t0079 | g0031 | AMR | PEL | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG01975 | hp2 | a0001 | c0001 | t0003 | g0056 | AMR | PEL | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG01978 | hp1 | a0001 | c0001 | t0013 | g0020 | AMR | PEL | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG01978 | hp2 | a0001 | c0001 | t0017 | g0101 | AMR | PEL | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG02004 | hp1 | a0001 | c0001 | t0003 | g0054 | AMR | PEL | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG02004 | hp2 | a0002 | c0003 | t0006 | g0129 | AMR | PEL | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG02040 | hp1 | a0001 | c0001 | t0001 | g0005 | EAS | KHV | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG02040 | hp2 | a0001 | c0002 | t0002 | g0002 | EAS | KHV | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG02074 | hp1 | a0001 | c0002 | t0005 | g0109 | EAS | KHV | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG02074 | hp2 | a0001 | c0001 | t0063 | g0061 | EAS | KHV | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG02132 | hp1 | a0001 | c0001 | t0001 | g0065 | EAS | KHV | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG02132 | hp2 | a0002 | c0003 | t0006 | g0013 | EAS | KHV | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG02135 | hp1 | a0001 | c0001 | t0004 | g0033 | EAS | KHV | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG02135 | hp2 | a0001 | c0002 | t0005 | g0001 | EAS | KHV | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG02257 | hp1 | a0001 | c0001 | t0003 | g0034 | AFR | ACB | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG02257 | hp2 | a0001 | c0001 | t0001 | g0064 | AFR | ACB | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG02273 | hp1 | a0001 | c0002 | t0002 | g0002 | AMR | PEL | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG02273 | hp2 | a0001 | c0001 | t0009 | g0062 | AMR | PEL | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG02293 | hp1 | a0001 | c0001 | t0008 | g0055 | AMR | PEL | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG02293 | hp2 | a0001 | c0001 | t0012 | g0079 | AMR | PEL | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG02451 | hp1 | a0002 | c0004 | t0011 | g0100 | AFR | ACB | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG02451 | hp2 | a0001 | c0001 | t0077 | g0015 | AFR | ACB | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG02572 | hp1 | a0001 | c0001 | t0069 | g0146 | AFR | GWD | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG02572 | hp2 | a0001 | c0001 | t0076 | g0006 | AFR | GWD | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG02647 | hp1 | a0001 | c0001 | t0015 | g0138 | AFR | GWD | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG02647 | hp2 | a0001 | c0002 | t0002 | g0003 | AFR | GWD | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG02735 | hp1 | a0001 | c0002 | t0025 | g0071 | SAS | PJL | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG02735 | hp2 | a0001 | c0001 | t0025 | g0038 | SAS | PJL | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG02809 | hp1 | a0001 | c0002 | t0085 | g0003 | AFR | GWD | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG02809 | hp2 | a0001 | c0002 | t0038 | g0113 | AFR | GWD | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG02818 | hp1 | a0001 | c0001 | t0070 | g0136 | AFR | GWD | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG02818 | hp2 | a0001 | c0001 | t0009 | g0076 | AFR | GWD | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG02886 | hp1 | a0001 | c0001 | t0024 | g0142 | AFR | GWD | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG02886 | hp2 | a0001 | c0001 | t0054 | g0022 | AFR | GWD | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG02922 | hp1 | a0001 | c0001 | t0010 | g0137 | AFR | ESN | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG02922 | hp2 | a0002 | c0004 | t0011 | g0088 | AFR | ESN | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG02965 | hp1 | a0001 | c0002 | t0002 | g0003 | AFR | ESN | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG02965 | hp2 | a0001 | c0001 | t0040 | g0017 | AFR | ESN | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG02976 | hp1 | a0001 | c0001 | t0015 | g0141 | AFR | ESN | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG02976 | hp2 | a0001 | c0001 | t0003 | g0077 | AFR | ESN | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG03017 | hp1 | a0001 | c0001 | t0001 | g0047 | SAS | PJL | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG03017 | hp2 | a0001 | c0001 | t0035 | g0097 | SAS | PJL | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG03041 | hp1 | a0001 | c0001 | t0041 | g0014 | AFR | GWD | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG03041 | hp2 | a0001 | c0001 | t0072 | g0143 | AFR | GWD | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG03139 | hp1 | a0002 | c0004 | t0011 | g0092 | AFR | ESN | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG03139 | hp2 | a0001 | c0001 | t0024 | g0139 | AFR | ESN | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG03225 | hp1 | a0001 | c0001 | t0039 | g0018 | AFR | MSL | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG03225 | hp2 | a0001 | c0001 | t0046 | g0125 | AFR | MSL | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG03239 | hp1 | a0001 | c0001 | t0004 | g0082 | SAS | PJL | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG03239 | hp2 | a0001 | c0001 | t0028 | g0089 | SAS | PJL | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG03453 | hp1 | a0001 | c0001 | t0078 | g0016 | AFR | MSL | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG03453 | hp2 | a0001 | c0001 | t0010 | g0135 | AFR | MSL | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG03486 | hp1 | a0002 | c0004 | t0043 | g0093 | AFR | MSL | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG03486 | hp2 | a0001 | c0001 | t0067 | g0134 | AFR | MSL | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG03490 | hp1 | a0001 | c0001 | t0030 | g0091 | SAS | PJL | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG03490 | hp2 | a0001 | c0001 | t0003 | g0052 | SAS | PJL | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG03492 | hp1 | a0001 | c0001 | t0014 | g0051 | SAS | PJL | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG03492 | hp2 | a0001 | c0001 | t0014 | g0021 | SAS | PJL | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG03516 | hp1 | a0001 | c0001 | t0061 | g0103 | AFR | ESN | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG03516 | hp2 | a0001 | c0001 | t0071 | g0133 | AFR | ESN | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG03579 | hp1 | a0001 | c0001 | t0056 | g0123 | AFR | MSL | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG03579 | hp2 | a0001 | c0001 | t0059 | g0019 | AFR | MSL | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG03669 | hp1 | a0001 | c0001 | t0004 | g0045 | SAS | PJL | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG03669 | hp2 | a0001 | c0002 | t0053 | g0119 | SAS | PJL | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG03704 | hp1 | a0001 | c0001 | t0004 | g0044 | SAS | PJL | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG03704 | hp2 | a0002 | c0003 | t0081 | g0130 | SAS | PJL | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG03710 | hp1 | a0001 | c0001 | t0021 | g0067 | SAS | PJL | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG03710 | hp2 | a0001 | c0001 | t0031 | g0098 | SAS | PJL | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG03834 | hp1 | a0001 | c0001 | t0013 | g0037 | SAS | BEB | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG03834 | hp2 | a0001 | c0001 | t0003 | g0070 | SAS | BEB | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG03927 | hp1 | a0001 | c0001 | t0008 | g0053 | SAS | BEB | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG03927 | hp2 | a0001 | c0001 | t0083 | g0086 | SAS | BEB | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG04184 | hp1 | a0001 | c0002 | t0047 | g0106 | SAS | BEB | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG04184 | hp2 | a0001 | c0002 | t0005 | g0012 | SAS | BEB | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
NA18522 | hp1 | a0001 | c0001 | t0010 | g0140 | AFR | YRI | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
NA18522 | hp2 | a0001 | c0001 | t0003 | g0007 | AFR | YRI | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
NA18747 | hp1 | a0001 | c0001 | t0023 | g0060 | EAS | CHB | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
NA18747 | hp2 | a0001 | c0002 | t0052 | g0112 | EAS | CHB | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
NA18906 | hp1 | a0001 | c0001 | t0009 | g0075 | AFR | YRI | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
NA18906 | hp2 | a0001 | c0001 | t0058 | g0124 | AFR | YRI | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
NA18942 | hp1 | a0001 | c0001 | t0003 | g0008 | EAS | JPT | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
NA18942 | hp2 | a0001 | c0001 | t0003 | g0004 | EAS | JPT | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
NA18943 | hp1 | a0001 | c0002 | t0007 | g0107 | EAS | JPT | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
NA18943 | hp2 | a0001 | c0001 | t0066 | g0042 | EAS | JPT | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
NA18954 | hp1 | a0001 | c0001 | t0001 | g0030 | EAS | JPT | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
NA18954 | hp2 | a0001 | c0001 | t0013 | g0048 | EAS | JPT | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
NA18967 | hp1 | a0001 | c0002 | t0018 | g0116 | EAS | JPT | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
NA18967 | hp2 | a0001 | c0001 | t0062 | g0028 | EAS | JPT | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
NA18979 | hp1 | a0001 | c0001 | t0021 | g0035 | EAS | JPT | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
NA18979 | hp2 | a0001 | c0006 | t0005 | g0120 | EAS | JPT | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
NA18988 | hp1 | a0001 | c0001 | t0008 | g0008 | EAS | JPT | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
NA18988 | hp2 | a0001 | c0002 | t0007 | g0012 | EAS | JPT | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
NA18992 | hp1 | a0001 | c0002 | t0007 | g0001 | EAS | JPT | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
NA18992 | hp2 | a0001 | c0001 | t0084 | g0087 | EAS | JPT | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
NA19006 | hp1 | a0001 | c0002 | t0004 | g0073 | EAS | JPT | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
NA19006 | hp2 | a0001 | c0002 | t0002 | g0118 | EAS | JPT | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
NA19009 | hp1 | a0001 | c0002 | t0048 | g0126 | EAS | JPT | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
NA19009 | hp2 | a0001 | c0001 | t0008 | g0029 | EAS | JPT | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
NA19056 | hp1 | a0001 | c0002 | t0005 | g0111 | EAS | JPT | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
NA19056 | hp2 | a0001 | c0001 | t0023 | g0058 | EAS | JPT | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
NA19060 | hp1 | a0003 | c0007 | t0060 | g0004 | EAS | JPT | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
NA19060 | hp2 | a0002 | c0009 | t0044 | g0049 | EAS | JPT | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
NA19064 | hp1 | a0001 | c0002 | t0018 | g0110 | EAS | JPT | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
NA19064 | hp2 | a0001 | c0001 | t0064 | g0041 | EAS | JPT | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
NA19066 | hp1 | a0002 | c0003 | t0080 | g0131 | EAS | JPT | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
NA19066 | hp2 | a0001 | c0001 | t0045 | g0036 | EAS | JPT | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
NA19078 | hp1 | a0001 | c0002 | t0019 | g0132 | EAS | JPT | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
NA19078 | hp2 | a0001 | c0002 | t0019 | g0001 | EAS | JPT | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
NA19084 | hp1 | a0001 | c0001 | t0001 | g0043 | EAS | JPT | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
NA19084 | hp2 | a0001 | c0001 | t0001 | g0032 | EAS | JPT | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
NA19087 | hp1 | a0001 | c0001 | t0002 | g0108 | EAS | JPT | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
NA19087 | hp2 | a0001 | c0001 | t0037 | g0085 | EAS | JPT | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
NA20129 | hp1 | a0004 | c0008 | t0001 | g0069 | AFR | ASW | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
NA20129 | hp2 | a0001 | c0002 | t0007 | g0114 | AFR | ASW | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
NA20752 | hp1 | a0001 | c0001 | t0016 | g0096 | EUR | TSI | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
NA20752 | hp2 | a0001 | c0002 | t0051 | g0001 | EUR | TSI | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
NA20805 | hp1 | a0001 | c0001 | t0001 | g0068 | EUR | TSI | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
NA20805 | hp2 | a0001 | c0001 | t0074 | g0066 | EUR | TSI | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG02109 | hp1 | a0001 | c0001 | t0065 | g0007 | AFR | ACB | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG02109 | hp2 | a0001 | c0001 | t0073 | g0084 | AFR | ACB | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG02559 | hp1 | a0001 | c0001 | t0001 | g0063 | AFR | ACB | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG02559 | hp2 | a0001 | c0002 | t0002 | g0003 | AFR | ACB | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG03471 | hp1 | a0001 | c0001 | t0001 | g0006 | AFR | MSL | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG03471 | hp2 | a0001 | c0001 | t0010 | g0145 | AFR | MSL | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG06807 | hp1 | a0001 | c0001 | t0017 | g0090 | AFR | USA | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
HG06807 | hp2 | a0001 | c0001 | t0068 | g0040 | AFR | USA | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
NA20300 | hp1 | a0001 | c0001 | t0001 | g0005 | AFR | USA | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
NA20300 | hp2 | a0001 | c0001 | t0015 | g0144 | AFR | USA | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
homoSapiens | chm13v2 | a0001 | c0001 | t0036 | g0083 | REF | REF | GTF2H2C_chr5_69555191_69600221 | GTF2H2C | chr5 | 69555191 | 69600221 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr5:69579063 | T | G | 1 | a0003 | 1 | NA19060.hp1 | missense_variant | MODERATE | c.604T>G | p.Ser202Ala | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 11/17 | 948/4555 | 604/1188 | 202/395 | chr5 | 69579063 | |||
chr5:69579813 | C | G | 1 | a0002 | 13 | HG01081.hp2 HG01256.hp1 HG01258.hp2 others(10): Show |
missense_variant | MODERATE | c.706C>G | p.Leu236Val | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 12/17 | 1050/4555 | 706/1188 | 236/395 | chr5 | 69579813 | |||
chr5:69579858 | C | T | 1 | a0004 | 1 | NA20129.hp1 | missense_variant | MODERATE | c.751C>T | p.Arg251Cys | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 12/17 | 1095/4555 | 751/1188 | 251/395 | chr5 | 69579858 | |||
chr5:69590332 | T | G | 1 | a0004 | 1 | NA20129.hp1 | missense_variant | MODERATE | c.1033T>G | p.Cys345Gly | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 16/17 | 1377/4555 | 1033/1188 | 345/395 | chr5 | 69590332 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr5:69572518 | T | C | 1 | a0002c0005 | 1 | HG01081.hp2 | synonymous_variant | LOW | c.438T>C | p.Tyr146Tyr | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 9/17 | 782/4555 | 438/1188 | 146/395 | chr5 | 69572518 | |||
chr5:69578794 | C | T | 5 | a0001c0001 a0002c0004 a0002c0009 others(2): Show |
120 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(117): Show |
synonymous_variant | LOW | c.553C>T | p.Leu185Leu | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 10/17 | 897/4555 | 553/1188 | 185/395 | chr5 | 69578794 | |||
chr5:69585684 | A | G | 1 | a0002c0009 | 1 | NA19060.hp2 | synonymous_variant | LOW | c.912A>G | p.Glu304Glu | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 14/17 | 1256/4555 | 912/1188 | 304/395 | chr5 | 69585684 | |||
chr5:69592159 | T | C | 1 | a0001c0006 | 1 | NA18979.hp2 | synonymous_variant | LOW | c.1149T>C | p.Pro383Pro | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 17/17 | 1493/4555 | 1149/1188 | 383/395 | chr5 | 69592159 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr5:69560208 | T | G | 2 | a0001c0002t0026 a0001c0002t0027 |
2 | HG01168.hp1 HG01169.hp2 |
5_prime_UTR_variant | MODIFIER | c.-327T>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 1/17 | 4925 | chr5 | 69560208 | ||||||
chr5:69560210 | A | G | 1 | a0001c0002t0085 | 1 | HG02809.hp1 | 5_prime_UTR_variant | MODIFIER | c.-325A>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 1/17 | 4923 | chr5 | 69560210 | ||||||
chr5:69560225 | G | A | 11 | a0001c0001t0016 a0001c0001t0017 a0001c0001t0028 others(8): Show |
13 | HG00099.hp2 HG01081.hp1 HG01175.hp2 others(10): Show |
5_prime_UTR_variant | MODIFIER | c.-310G>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 1/17 | 4908 | chr5 | 69560225 | ||||||
chr5:69560236 | G | A | 1 | a0001c0002t0038 | 1 | HG02809.hp2 | 5_prime_UTR_variant | MODIFIER | c.-299G>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 1/17 | 4897 | chr5 | 69560236 | ||||||
chr5:69560289 | C | T | 18 | a0001c0001t0016 a0001c0001t0017 a0001c0001t0028 others(15): Show |
23 | HG00099.hp2 HG00642.hp2 HG01081.hp1 others(20): Show |
5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-246C>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 1/17 | chr5 | 69560289 | |||||||
chr5:69560295 | A | G | 5 | a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 others(2): Show |
5 | HG01168.hp1 HG01169.hp2 HG01975.hp1 others(2): Show |
5_prime_UTR_variant | MODIFIER | c.-240A>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 1/17 | 4838 | chr5 | 69560295 | ||||||
chr5:69560397 | G | C | 5 | a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 others(2): Show |
5 | HG02451.hp2 HG02965.hp2 HG03041.hp1 others(2): Show |
5_prime_UTR_variant | MODIFIER | c.-138G>C | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 1/17 | 4736 | chr5 | 69560397 | ||||||
chr5:69562718 | C | G | 2 | a0001c0001t0076 a0001c0001t0078 |
2 | HG02572.hp2 HG03453.hp1 |
5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-86C>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 2/17 | chr5 | 69562718 | |||||||
chr5:69562753 | G | A | 3 | a0002c0004t0011 a0002c0004t0042 a0002c0004t0043 |
5 | HG01256.hp1 HG02451.hp1 HG02922.hp2 others(2): Show |
5_prime_UTR_variant | MODIFIER | c.-51G>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 2/17 | 2380 | chr5 | 69562753 | ||||||
chr5:69592610 | C | T | 1 | a0001c0001t0075 | 1 | HG00544.hp1 | 3_prime_UTR_variant | MODIFIER | c.*412C>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 17/17 | 412 | chr5 | 69592610 | ||||||
chr5:69592641 | C | T | 1 | a0001c0001t0074 | 1 | NA20805.hp2 | 3_prime_UTR_variant | MODIFIER | c.*443C>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 17/17 | 443 | chr5 | 69592641 | ||||||
chr5:69592734 | T | G | 1 | a0002c0009t0044 | 1 | NA19060.hp2 | 3_prime_UTR_variant | MODIFIER | c.*536T>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 17/17 | 536 | chr5 | 69592734 | ||||||
chr5:69592841 | G | A | 1 | a0001c0001t0028 | 1 | HG03239.hp2 | 3_prime_UTR_variant | MODIFIER | c.*643G>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 17/17 | 643 | chr5 | 69592841 | ||||||
chr5:69592851 | T | G | 9 | a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 others(6): Show |
12 | HG01081.hp2 HG01258.hp2 HG01928.hp1 others(9): Show |
3_prime_UTR_variant | MODIFIER | c.*653T>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 17/17 | 653 | chr5 | 69592851 | ||||||
chr5:69592888 | A | G | 72 | a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(69): Show |
128 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(125): Show |
3_prime_UTR_variant | MODIFIER | c.*690A>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 17/17 | 690 | chr5 | 69592888 | ||||||
chr5:69592905 | A | G | 1 | a0001c0001t0075 | 1 | HG00544.hp1 | 3_prime_UTR_variant | MODIFIER | c.*707A>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 17/17 | 707 | chr5 | 69592905 | ||||||
chr5:69593354 | A | G | 3 | a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 |
3 | HG02965.hp2 HG03041.hp1 HG03225.hp1 |
3_prime_UTR_variant | MODIFIER | c.*1156A>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 17/17 | 1156 | chr5 | 69593354 | ||||||
chr5:69593452 | G | A | 1 | a0001c0001t0054 | 1 | HG02886.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1254G>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 17/17 | 1254 | chr5 | 69593452 | ||||||
chr5:69593675 | G | A | 1 | a0001c0001t0055 | 1 | HG01255.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1477G>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 17/17 | 1477 | chr5 | 69593675 | ||||||
chr5:69593938 | G | GA | 20 | a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(17): Show |
56 | HG00099.hp1 HG00423.hp1 HG00544.hp1 others(53): Show |
3_prime_UTR_variant | MODIFIER | c.*1766dupA | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 17/17 | 1767 | INFO_REALIGN_3_PRIME | chr5 | 69593938 | |||||
chr5:69593938 | G | GAA | 10 | a0001c0001t0004 a0001c0001t0008 a0001c0001t0012 others(7): Show |
22 | HG00423.hp2 HG01175.hp1 HG01192.hp2 others(19): Show |
3_prime_UTR_variant | MODIFIER | c.*1765_*1766dupAA | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 17/17 | 1767 | INFO_REALIGN_3_PRIME | chr5 | 69593938 | |||||
chr5:69593938 | G | GAAA | 5 | a0001c0001t0059 a0001c0001t0061 a0001c0001t0062 others(2): Show |
5 | HG03516.hp1 HG03579.hp2 HG04184.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*1764_*1766dupAAA | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 17/17 | 1767 | INFO_REALIGN_3_PRIME | chr5 | 69593938 | |||||
chr5:69593938 | G | GAAAA | 5 | a0001c0001t0040 a0001c0001t0054 a0001c0001t0056 others(2): Show |
5 | HG01074.hp2 HG02886.hp2 HG02965.hp2 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*1763_*1766dupAAAA | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 17/17 | 1767 | INFO_REALIGN_3_PRIME | chr5 | 69593938 | |||||
chr5:69593938 | G | GAAAAAAA others(29): Show |
1 | a0001c0001t0039 | 1 | HG03225.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1766_*1767insAAAA others(32): Show |
GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 17/17 | 1767 | INFO_REALIGN_3_PRIME | chr5 | 69593938 | |||||
chr5:69593938 | GA | G | 15 | a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 others(12): Show |
22 | HG00099.hp2 HG01081.hp1 HG01168.hp1 others(19): Show |
3_prime_UTR_variant | MODIFIER | c.*1766delA | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 17/17 | 1766 | INFO_REALIGN_3_PRIME | chr5 | 69593938 | |||||
chr5:69593938 | GAAAAAAA others(3): Show |
G | 7 | a0001c0001t0025 a0001c0001t0045 a0001c0001t0046 others(4): Show |
10 | HG01081.hp2 HG01258.hp2 HG01928.hp1 others(7): Show |
3_prime_UTR_variant | MODIFIER | c.*1757_*1766delAAAA others(6): Show |
GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 17/17 | 1757 | INFO_REALIGN_3_PRIME | chr5 | 69593938 | |||||
chr5:69593938 | GAAAAAAA others(4): Show |
G | 1 | a0002c0003t0081 | 1 | HG03704.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1756_*1766delAAAA others(7): Show |
GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 17/17 | 1756 | INFO_REALIGN_3_PRIME | chr5 | 69593938 | |||||
chr5:69593938 | GAAAAAAA others(6): Show |
G | 1 | a0001c0001t0037 | 1 | NA19087.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1754_*1766delAAAA others(9): Show |
GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 17/17 | 1754 | INFO_REALIGN_3_PRIME | chr5 | 69593938 | |||||
chr5:69593976 | G | C | 5 | a0001c0001t0045 a0002c0003t0006 a0002c0003t0080 others(2): Show |
8 | HG01081.hp2 HG01258.hp2 HG01928.hp1 others(5): Show |
3_prime_UTR_variant | MODIFIER | c.*1778G>C | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 17/17 | 1778 | chr5 | 69593976 | ||||||
chr5:69593995 | G | T | 1 | a0001c0001t0037 | 1 | NA19087.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1797G>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 17/17 | 1797 | chr5 | 69593995 | ||||||
chr5:69594055 | A | AT | 4 | a0001c0002t0019 a0001c0002t0047 a0001c0002t0049 others(1): Show |
5 | HG01433.hp1 HG03669.hp2 HG04184.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*1876dupT | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 17/17 | 1877 | INFO_REALIGN_3_PRIME | chr5 | 69594055 | |||||
chr5:69594055 | AT | A | 49 | a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(46): Show |
96 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(93): Show |
3_prime_UTR_variant | MODIFIER | c.*1876delT | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 17/17 | 1876 | INFO_REALIGN_3_PRIME | chr5 | 69594055 | |||||
chr5:69594436 | T | TAC | 17 | a0001c0001t0009 a0001c0001t0056 a0001c0001t0057 others(14): Show |
27 | HG00544.hp2 HG00642.hp2 HG01074.hp2 others(24): Show |
3_prime_UTR_variant | MODIFIER | c.*2279_*2280dupAC | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 17/17 | 2281 | INFO_REALIGN_3_PRIME | chr5 | 69594436 | |||||
chr5:69594436 | T | TACAC | 22 | a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 others(19): Show |
43 | HG00544.hp1 HG00609.hp2 HG01081.hp1 others(40): Show |
3_prime_UTR_variant | MODIFIER | c.*2277_*2280dupACAC | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 17/17 | 2281 | INFO_REALIGN_3_PRIME | chr5 | 69594436 | |||||
chr5:69594436 | T | TACACAC | 5 | a0001c0001t0023 a0001c0001t0030 a0001c0001t0033 others(2): Show |
6 | HG01192.hp1 HG01358.hp1 HG03017.hp2 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*2275_*2280dupACAC others(2): Show |
GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 17/17 | 2281 | INFO_REALIGN_3_PRIME | chr5 | 69594436 | |||||
chr5:69594436 | T | TACACACA others(1): Show |
4 | a0001c0001t0022 a0001c0001t0029 a0001c0001t0034 others(1): Show |
5 | HG00099.hp2 HG00423.hp1 HG00642.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*2273_*2280dupACAC others(4): Show |
GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 17/17 | 2281 | INFO_REALIGN_3_PRIME | chr5 | 69594436 | |||||
chr5:69594436 | T | TACACACA others(3): Show |
1 | a0001c0001t0069 | 1 | HG02572.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2271_*2280dupACAC others(6): Show |
GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 17/17 | 2281 | INFO_REALIGN_3_PRIME | chr5 | 69594436 | |||||
chr5:69594436 | TAC | T | 18 | a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 others(15): Show |
39 | HG00099.hp1 HG00423.hp2 HG01074.hp1 others(36): Show |
3_prime_UTR_variant | MODIFIER | c.*2279_*2280delAC | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 17/17 | 2279 | INFO_REALIGN_3_PRIME | chr5 | 69594436 | |||||
chr5:69594436 | TACACACA others(1): Show |
T | 6 | a0001c0001t0045 a0001c0001t0046 a0002c0003t0006 others(3): Show |
9 | HG01081.hp2 HG01258.hp2 HG01928.hp1 others(6): Show |
3_prime_UTR_variant | MODIFIER | c.*2273_*2280delACAC others(4): Show |
GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 17/17 | 2273 | INFO_REALIGN_3_PRIME | chr5 | 69594436 | |||||
chr5:69594436 | TACACACA others(5): Show |
T | 1 | a0001c0002t0052 | 1 | NA18747.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2269_*2280delACAC others(8): Show |
GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 17/17 | 2269 | INFO_REALIGN_3_PRIME | chr5 | 69594436 | |||||
chr5:69594660 | A | G | 4 | a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 others(1): Show |
4 | HG01074.hp2 HG03516.hp1 HG03579.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*2462A>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 17/17 | 2462 | chr5 | 69594660 | ||||||
chr5:69594729 | A | G | 1 | a0002c0004t0042 | 1 | HG01256.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2531A>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 17/17 | 2531 | chr5 | 69594729 | ||||||
chr5:69594996 | A | G | 1 | a0001c0001t0057 | 1 | HG01074.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2798A>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 17/17 | 2798 | chr5 | 69594996 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr5:69560637 | T | G | 5 | a0001c0001t0039g0018 a0001c0001t0040g0017 a0001c0001t0041g0014 others(2): Show |
5 | HG02451.hp2 HG02965.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.-132+234T>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 1/16 | chr5 | 69560637 | |||||||
chr5:69560671 | G | A | 1 | a0001c0001t0059g0019 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.-132+268G>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 1/16 | chr5 | 69560671 | |||||||
chr5:69560810 | T | C | 3 | a0001c0001t0013g0020 a0001c0001t0014g0021 a0001c0001t0054g0022 |
3 | HG01978.hp1 HG02886.hp2 HG03492.hp2 |
intron_variant | MODIFIER | c.-132+407T>C | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 1/16 | chr5 | 69560810 | |||||||
chr5:69560852 | G | A | 71 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0025 others(68): Show |
72 | HG00099.hp1 HG00423.hp1 HG00423.hp2 others(69): Show |
intron_variant | MODIFIER | c.-132+449G>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 1/16 | chr5 | 69560852 | |||||||
chr5:69561553 | CAGA | C | 69 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0025 others(66): Show |
70 | HG00099.hp1 HG00423.hp1 HG00423.hp2 others(67): Show |
intron_variant | MODIFIER | c.-131-1118_-131-111 others(7): Show |
GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr5 | 69561553 | ||||||
chr5:69561555 | G | A | 54 | a0001c0001t0010g0135 a0001c0001t0010g0137 a0001c0001t0010g0140 others(51): Show |
55 | HG00099.hp2 HG00642.hp2 HG01074.hp2 others(52): Show |
intron_variant | MODIFIER | c.-131-1118G>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 1/16 | chr5 | 69561555 | |||||||
chr5:69561564 | G | A | 70 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0025 others(67): Show |
71 | HG00099.hp1 HG00423.hp1 HG00423.hp2 others(68): Show |
intron_variant | MODIFIER | c.-131-1109G>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 1/16 | chr5 | 69561564 | |||||||
chr5:69561635 | A | G | 1 | a0001c0001t0059g0019 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.-131-1038A>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 1/16 | chr5 | 69561635 | |||||||
chr5:69561937 | G | T | 1 | a0001c0001t0082g0147 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.-131-736G>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 1/16 | chr5 | 69561937 | |||||||
chr5:69561955 | G | A | 1 | a0001c0001t0012g0023 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.-131-718G>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 1/16 | chr5 | 69561955 | |||||||
chr5:69562078 | G | A | 4 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0004g0024 others(1): Show |
4 | HG01074.hp1 HG01168.hp2 HG01175.hp1 others(1): Show |
intron_variant | MODIFIER | c.-131-595G>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 1/16 | chr5 | 69562078 | |||||||
chr5:69562119 | G | A | 1 | a0001c0001t0073g0084 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.-131-554G>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 1/16 | chr5 | 69562119 | |||||||
chr5:69562274 | C | T | 4 | a0001c0001t0004g0078 a0001c0001t0012g0079 a0001c0002t0002g0003 others(1): Show |
6 | HG01952.hp1 HG02293.hp2 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.-131-399C>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 1/16 | chr5 | 69562274 | |||||||
chr5:69562484 | C | T | 15 | a0001c0001t0010g0135 a0001c0001t0010g0137 a0001c0001t0010g0140 others(12): Show |
15 | HG02109.hp2 HG02572.hp1 HG02647.hp1 others(12): Show |
intron_variant | MODIFIER | c.-131-189C>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 1/16 | chr5 | 69562484 | |||||||
chr5:69562816 | C | T | 1 | a0001c0002t0019g0132 | 1 | NA19078.hp1 | intron_variant | MODIFIER | c.-34+46C>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 2/16 | chr5 | 69562816 | |||||||
chr5:69563200 | C | T | 6 | a0002c0003t0006g0013 a0002c0003t0006g0127 a0002c0003t0006g0129 others(3): Show |
7 | HG01081.hp2 HG01258.hp2 HG01928.hp1 others(4): Show |
intron_variant | MODIFIER | c.-34+430C>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 2/16 | chr5 | 69563200 | |||||||
chr5:69563208 | GT | G | 102 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0025 others(99): Show |
104 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(101): Show |
intron_variant | MODIFIER | c.-34+462delT | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr5 | 69563208 | ||||||
chr5:69563208 | GTT | G | 14 | a0001c0001t0010g0135 a0001c0001t0010g0137 a0001c0001t0010g0140 others(11): Show |
14 | HG02109.hp2 HG02647.hp1 HG02818.hp1 others(11): Show |
intron_variant | MODIFIER | c.-34+461_-34+462del others(2): Show |
GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr5 | 69563208 | ||||||
chr5:69563221 | T | G | 72 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0025 others(69): Show |
73 | HG00099.hp1 HG00423.hp1 HG00423.hp2 others(70): Show |
intron_variant | MODIFIER | c.-34+451T>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 2/16 | chr5 | 69563221 | |||||||
chr5:69563237 | C | T | 1 | a0001c0002t0048g0126 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.-34+467C>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 2/16 | chr5 | 69563237 | |||||||
chr5:69563509 | T | G | 1 | a0001c0002t0002g0102 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.-34+739T>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 2/16 | chr5 | 69563509 | |||||||
chr5:69563521 | GTGTT | G | 15 | a0001c0001t0010g0135 a0001c0001t0010g0137 a0001c0001t0010g0140 others(12): Show |
15 | HG02109.hp2 HG02572.hp1 HG02647.hp1 others(12): Show |
intron_variant | MODIFIER | c.-34+761_-34+764del others(4): Show |
GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr5 | 69563521 | ||||||
chr5:69563645 | A | G | 72 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0025 others(69): Show |
73 | HG00099.hp1 HG00423.hp1 HG00423.hp2 others(70): Show |
intron_variant | MODIFIER | c.-34+875A>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 2/16 | chr5 | 69563645 | |||||||
chr5:69563685 | T | C | 1 | a0001c0001t0071g0133 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.-34+915T>C | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 2/16 | chr5 | 69563685 | |||||||
chr5:69563828 | A | G | 1 | a0001c0002t0048g0126 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.-34+1058A>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 2/16 | chr5 | 69563828 | |||||||
chr5:69563928 | C | A | 1 | a0001c0001t0037g0085 | 1 | NA19087.hp2 | intron_variant | MODIFIER | c.-34+1158C>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 2/16 | chr5 | 69563928 | |||||||
chr5:69563929 | C | T | 1 | a0001c0001t0037g0085 | 1 | NA19087.hp2 | intron_variant | MODIFIER | c.-34+1159C>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 2/16 | chr5 | 69563929 | |||||||
chr5:69564083 | G | A | 3 | a0001c0001t0082g0147 a0001c0001t0083g0086 a0001c0001t0084g0087 |
3 | HG00642.hp2 HG03927.hp2 NA18992.hp2 |
intron_variant | MODIFIER | c.-33-1017G>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 2/16 | chr5 | 69564083 | |||||||
chr5:69564153 | T | G | 6 | a0001c0001t0003g0004 a0001c0001t0008g0029 a0001c0001t0014g0004 others(3): Show |
6 | HG00544.hp1 HG00609.hp2 NA18942.hp2 others(3): Show |
intron_variant | MODIFIER | c.-33-947T>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 2/16 | chr5 | 69564153 | |||||||
chr5:69564169 | T | G | 1 | a0001c0001t0061g0103 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.-33-931T>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 2/16 | chr5 | 69564169 | |||||||
chr5:69564251 | G | T | 126 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0025 others(123): Show |
128 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(125): Show |
intron_variant | MODIFIER | c.-33-849G>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 2/16 | chr5 | 69564251 | |||||||
chr5:69564375 | T | G | 1 | a0001c0001t0001g0030 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.-33-725T>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 2/16 | chr5 | 69564375 | |||||||
chr5:69564554 | A | G | 5 | a0001c0001t0003g0007 a0001c0001t0003g0077 a0001c0001t0009g0075 others(2): Show |
5 | HG02109.hp1 HG02818.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.-33-546A>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 2/16 | chr5 | 69564554 | |||||||
chr5:69564907 | C | G | 1 | a0001c0001t0040g0017 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.-33-193C>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 2/16 | chr5 | 69564907 | |||||||
chr5:69565383 | A | G | 1 | a0001c0001t0009g0074 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.56+195A>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 3/16 | chr5 | 69565383 | |||||||
chr5:69565515 | C | T | 1 | a0001c0002t0004g0073 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.56+327C>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 3/16 | chr5 | 69565515 | |||||||
chr5:69565642 | A | C | 3 | a0001c0002t0005g0012 a0001c0002t0007g0012 a0001c0002t0019g0132 |
3 | HG04184.hp2 NA18988.hp2 NA19078.hp1 |
intron_variant | MODIFIER | c.56+454A>C | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 3/16 | chr5 | 69565642 | |||||||
chr5:69566250 | T | G | 5 | a0001c0001t0003g0007 a0001c0001t0003g0077 a0001c0001t0009g0075 others(2): Show |
5 | HG02109.hp1 HG02818.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.134+42T>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 4/16 | chr5 | 69566250 | |||||||
chr5:69566534 | TG | T | 126 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0025 others(123): Show |
128 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(125): Show |
intron_variant | MODIFIER | c.135-54delG | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 4/16 | chr5 | 69566534 | |||||||
chr5:69566538 | G | T | 126 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0025 others(123): Show |
128 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(125): Show |
intron_variant | MODIFIER | c.135-51G>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 4/16 | chr5 | 69566538 | |||||||
chr5:69567423 | A | G | 3 | a0001c0001t0082g0147 a0001c0001t0083g0086 a0001c0001t0084g0087 |
3 | HG00642.hp2 HG03927.hp2 NA18992.hp2 |
intron_variant | MODIFIER | c.259-304A>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 6/16 | chr5 | 69567423 | |||||||
chr5:69567593 | G | A | 1 | a0001c0001t0054g0022 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.259-134G>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 6/16 | chr5 | 69567593 | |||||||
chr5:69567633 | C | T | 8 | a0001c0001t0046g0125 a0001c0001t0054g0022 a0001c0001t0056g0123 others(5): Show |
8 | HG01074.hp2 HG02886.hp2 HG03225.hp2 others(5): Show |
intron_variant | MODIFIER | c.259-94C>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 6/16 | chr5 | 69567633 | |||||||
chr5:69567669 | A | G | 8 | a0001c0001t0046g0125 a0001c0001t0054g0022 a0001c0001t0056g0123 others(5): Show |
8 | HG01074.hp2 HG02886.hp2 HG03225.hp2 others(5): Show |
intron_variant | MODIFIER | c.259-58A>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 6/16 | chr5 | 69567669 | |||||||
chr5:69567917 | G | A | 5 | a0001c0001t0046g0125 a0001c0001t0056g0123 a0001c0001t0057g0122 others(2): Show |
5 | HG01074.hp2 HG03225.hp2 HG03516.hp1 others(2): Show |
intron_variant | MODIFIER | c.309+140G>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 7/16 | chr5 | 69567917 | |||||||
chr5:69568403 | GCAT | G | 7 | a0001c0001t0046g0125 a0001c0001t0054g0022 a0001c0001t0056g0123 others(4): Show |
7 | HG01074.hp2 HG02886.hp2 HG03225.hp2 others(4): Show |
intron_variant | MODIFIER | c.364+200_364+202del others(3): Show |
GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr5 | 69568403 | ||||||
chr5:69568408 | A | G | 7 | a0001c0001t0046g0125 a0001c0001t0054g0022 a0001c0001t0056g0123 others(4): Show |
7 | HG01074.hp2 HG02886.hp2 HG03225.hp2 others(4): Show |
intron_variant | MODIFIER | c.364+201A>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 8/16 | chr5 | 69568408 | |||||||
chr5:69568454 | T | A | 7 | a0001c0001t0046g0125 a0001c0001t0054g0022 a0001c0001t0056g0123 others(4): Show |
7 | HG01074.hp2 HG02886.hp2 HG03225.hp2 others(4): Show |
intron_variant | MODIFIER | c.364+247T>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 8/16 | chr5 | 69568454 | |||||||
chr5:69568491 | C | CT | 72 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0025 others(69): Show |
73 | HG00099.hp1 HG00423.hp1 HG00423.hp2 others(70): Show |
intron_variant | MODIFIER | c.364+308dupT | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr5 | 69568491 | ||||||
chr5:69568491 | CT | C | 42 | a0001c0001t0010g0135 a0001c0001t0010g0137 a0001c0001t0010g0140 others(39): Show |
43 | HG00642.hp2 HG01074.hp2 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.364+308delT | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr5 | 69568491 | ||||||
chr5:69568553 | A | G | 3 | a0001c0001t0029g0121 a0001c0001t0033g0009 a0001c0001t0034g0009 |
3 | HG00099.hp2 HG01175.hp2 HG01192.hp1 |
intron_variant | MODIFIER | c.364+346A>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 8/16 | chr5 | 69568553 | |||||||
chr5:69568805 | G | A | 126 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0025 others(123): Show |
128 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(125): Show |
intron_variant | MODIFIER | c.364+598G>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 8/16 | chr5 | 69568805 | |||||||
chr5:69569013 | A | G | 126 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0025 others(123): Show |
128 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(125): Show |
intron_variant | MODIFIER | c.364+806A>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 8/16 | chr5 | 69569013 | |||||||
chr5:69569661 | G | A | 1 | a0001c0002t0047g0106 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.364+1454G>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 8/16 | chr5 | 69569661 | |||||||
chr5:69569687 | C | CT | 78 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0025 others(75): Show |
79 | HG00099.hp1 HG00423.hp1 HG00423.hp2 others(76): Show |
intron_variant | MODIFIER | c.364+1494dupT | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr5 | 69569687 | ||||||
chr5:69570305 | C | T | 1 | a0001c0001t0012g0079 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.364+2098C>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 8/16 | chr5 | 69570305 | |||||||
chr5:69570885 | G | A | 5 | a0001c0001t0039g0018 a0001c0001t0040g0017 a0001c0001t0041g0014 others(2): Show |
5 | HG02451.hp2 HG02965.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.365-1560G>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 8/16 | chr5 | 69570885 | |||||||
chr5:69571222 | A | G | 1 | a0001c0001t0059g0019 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.365-1223A>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 8/16 | chr5 | 69571222 | |||||||
chr5:69571392 | G | C | 1 | a0002c0003t0006g0127 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.365-1053G>C | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 8/16 | chr5 | 69571392 | |||||||
chr5:69571474 | C | T | 84 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0025 others(81): Show |
85 | HG00099.hp1 HG00423.hp1 HG00423.hp2 others(82): Show |
intron_variant | MODIFIER | c.365-971C>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 8/16 | chr5 | 69571474 | |||||||
chr5:69571546 | G | A | 5 | a0001c0001t0039g0018 a0001c0001t0040g0017 a0001c0001t0041g0014 others(2): Show |
5 | HG02451.hp2 HG02965.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.365-899G>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 8/16 | chr5 | 69571546 | |||||||
chr5:69571576 | G | T | 1 | a0001c0001t0061g0103 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.365-869G>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 8/16 | chr5 | 69571576 | |||||||
chr5:69571722 | T | C | 1 | a0001c0001t0079g0031 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.365-723T>C | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 8/16 | chr5 | 69571722 | |||||||
chr5:69572245 | G | A | 2 | a0001c0001t0021g0035 a0001c0001t0045g0036 |
2 | NA18979.hp1 NA19066.hp2 |
intron_variant | MODIFIER | c.365-200G>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 8/16 | chr5 | 69572245 | |||||||
chr5:69572428 | C | T | 84 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0025 others(81): Show |
85 | HG00099.hp1 HG00423.hp1 HG00423.hp2 others(82): Show |
intron_variant | MODIFIER | c.365-17C>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 8/16 | chr5 | 69572428 | |||||||
chr5:69572435 | T | C | 1 | a0001c0002t0048g0126 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.365-10T>C | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 8/16 | chr5 | 69572435 | |||||||
chr5:69572802 | G | T | 5 | a0001c0001t0039g0018 a0001c0001t0040g0017 a0001c0001t0041g0014 others(2): Show |
5 | HG02451.hp2 HG02965.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.470+252G>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 9/16 | chr5 | 69572802 | |||||||
chr5:69572854 | G | A | 1 | a0002c0004t0011g0088 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.470+304G>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 9/16 | chr5 | 69572854 | |||||||
chr5:69572887 | T | A | 126 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0025 others(123): Show |
128 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(125): Show |
intron_variant | MODIFIER | c.470+337T>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 9/16 | chr5 | 69572887 | |||||||
chr5:69573025 | T | TTA | 5 | a0002c0004t0011g0088 a0002c0004t0011g0092 a0002c0004t0011g0100 others(2): Show |
5 | HG01256.hp1 HG02451.hp1 HG02922.hp2 others(2): Show |
intron_variant | MODIFIER | c.470+488_470+489dup others(2): Show |
GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr5 | 69573025 | ||||||
chr5:69573035 | A | G | 1 | a0001c0001t0084g0087 | 1 | NA18992.hp2 | intron_variant | MODIFIER | c.470+485A>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 9/16 | chr5 | 69573035 | |||||||
chr5:69573066 | A | C | 7 | a0001c0001t0046g0125 a0001c0001t0054g0022 a0001c0001t0056g0123 others(4): Show |
7 | HG01074.hp2 HG02886.hp2 HG03225.hp2 others(4): Show |
intron_variant | MODIFIER | c.470+516A>C | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 9/16 | chr5 | 69573066 | |||||||
chr5:69573131 | A | G | 1 | a0001c0001t0012g0072 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.470+581A>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 9/16 | chr5 | 69573131 | |||||||
chr5:69573143 | T | TAC | 5 | a0001c0001t0010g0145 a0001c0001t0017g0090 a0001c0001t0061g0103 others(2): Show |
5 | HG00642.hp2 HG03041.hp2 HG03471.hp2 others(2): Show |
intron_variant | MODIFIER | c.470+594_470+595ins others(2): Show |
GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr5 | 69573143 | ||||||
chr5:69573143 | T | TACAC | 14 | a0001c0001t0004g0033 a0001c0001t0013g0037 a0001c0001t0015g0141 others(11): Show |
15 | HG01081.hp2 HG01258.hp2 HG02004.hp2 others(12): Show |
intron_variant | MODIFIER | c.470+594_470+595ins others(4): Show |
GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr5 | 69573143 | ||||||
chr5:69573143 | T | TACACAC | 16 | a0001c0001t0001g0032 a0001c0001t0010g0137 a0001c0001t0010g0140 others(13): Show |
16 | HG00099.hp2 HG01081.hp1 HG01175.hp2 others(13): Show |
intron_variant | MODIFIER | c.470+594_470+595ins others(6): Show |
GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr5 | 69573143 | ||||||
chr5:69573143 | T | TACACACA others(1): Show |
3 | a0001c0001t0010g0135 a0001c0001t0067g0134 a0001c0001t0073g0084 |
3 | HG02109.hp2 HG03453.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.470+594_470+595ins others(8): Show |
GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr5 | 69573143 | ||||||
chr5:69573145 | T | C | 42 | a0001c0001t0001g0032 a0001c0001t0004g0033 a0001c0001t0010g0135 others(39): Show |
43 | HG00099.hp2 HG00642.hp2 HG01081.hp1 others(40): Show |
intron_variant | MODIFIER | c.470+595T>C | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 9/16 | chr5 | 69573145 | |||||||
chr5:69573145 | T | TAC | 60 | a0001c0001t0001g0006 a0001c0001t0001g0030 a0001c0001t0001g0063 others(57): Show |
62 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(59): Show |
intron_variant | MODIFIER | c.470+632_470+633dup others(2): Show |
GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr5 | 69573145 | ||||||
chr5:69573145 | T | TACAC | 34 | a0001c0001t0001g0005 a0001c0001t0001g0025 a0001c0001t0001g0026 others(31): Show |
35 | HG00099.hp1 HG00423.hp1 HG00423.hp2 others(32): Show |
intron_variant | MODIFIER | c.470+630_470+633dup others(4): Show |
GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr5 | 69573145 | ||||||
chr5:69573145 | TAC | T | 3 | a0001c0001t0022g0081 a0001c0001t0040g0017 a0004c0008t0001g0069 |
3 | HG00642.hp1 HG02965.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.470+632_470+633del others(2): Show |
GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr5 | 69573145 | ||||||
chr5:69573145 | TACACAC | T | 8 | a0001c0001t0003g0070 a0001c0001t0059g0019 a0001c0002t0025g0071 others(5): Show |
8 | HG01256.hp1 HG02451.hp1 HG02735.hp1 others(5): Show |
intron_variant | MODIFIER | c.470+628_470+633del others(6): Show |
GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr5 | 69573145 | ||||||
chr5:69573184 | G | A | 4 | a0001c0001t0046g0125 a0001c0001t0056g0123 a0001c0001t0057g0122 others(1): Show |
4 | HG01074.hp2 HG03225.hp2 HG03579.hp1 others(1): Show |
intron_variant | MODIFIER | c.470+634G>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 9/16 | chr5 | 69573184 | |||||||
chr5:69573196 | A | T | 1 | a0001c0001t0072g0143 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.470+646A>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 9/16 | chr5 | 69573196 | |||||||
chr5:69573476 | G | T | 1 | a0001c0001t0059g0019 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.470+926G>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 9/16 | chr5 | 69573476 | |||||||
chr5:69574322 | A | AT | 6 | a0002c0003t0006g0013 a0002c0003t0006g0127 a0002c0003t0006g0129 others(3): Show |
7 | HG01081.hp2 HG01258.hp2 HG01928.hp1 others(4): Show |
intron_variant | MODIFIER | c.470+1781dupT | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr5 | 69574322 | ||||||
chr5:69574427 | T | C | 1 | a0001c0001t0074g0066 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.470+1877T>C | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 9/16 | chr5 | 69574427 | |||||||
chr5:69574535 | C | G | 5 | a0001c0001t0039g0018 a0001c0001t0040g0017 a0001c0001t0041g0014 others(2): Show |
5 | HG02451.hp2 HG02965.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.470+1985C>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 9/16 | chr5 | 69574535 | |||||||
chr5:69574566 | T | G | 1 | a0001c0001t0003g0070 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.470+2016T>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 9/16 | chr5 | 69574566 | |||||||
chr5:69574614 | G | A | 4 | a0001c0001t0003g0034 a0001c0001t0003g0052 a0001c0001t0008g0053 others(1): Show |
4 | HG02257.hp1 HG03490.hp2 HG03492.hp1 others(1): Show |
intron_variant | MODIFIER | c.470+2064G>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 9/16 | chr5 | 69574614 | |||||||
chr5:69574779 | C | T | 2 | a0001c0001t0082g0147 a0001c0001t0083g0086 |
2 | HG00642.hp2 HG03927.hp2 |
intron_variant | MODIFIER | c.470+2229C>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 9/16 | chr5 | 69574779 | |||||||
chr5:69574947 | C | CA | 47 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0025 others(44): Show |
48 | HG01074.hp1 HG01168.hp2 HG01175.hp1 others(45): Show |
intron_variant | MODIFIER | c.470+2419dupA | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr5 | 69574947 | ||||||
chr5:69574947 | C | CAA | 44 | a0001c0001t0003g0004 a0001c0001t0003g0008 a0001c0001t0003g0034 others(41): Show |
44 | HG00423.hp1 HG00423.hp2 HG00544.hp1 others(41): Show |
intron_variant | MODIFIER | c.470+2418_470+2419d others(4): Show |
GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr5 | 69574947 | ||||||
chr5:69574957 | A | AAT | 6 | a0002c0003t0006g0013 a0002c0003t0006g0127 a0002c0003t0006g0129 others(3): Show |
7 | HG01081.hp2 HG01258.hp2 HG01928.hp1 others(4): Show |
intron_variant | MODIFIER | c.470+2408_470+2409i others(4): Show |
GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr5 | 69574957 | ||||||
chr5:69575090 | A | G | 1 | a0001c0002t0002g0117 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.470+2540A>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 9/16 | chr5 | 69575090 | |||||||
chr5:69575091 | G | A | 5 | a0002c0004t0011g0088 a0002c0004t0011g0092 a0002c0004t0011g0100 others(2): Show |
5 | HG01256.hp1 HG02451.hp1 HG02922.hp2 others(2): Show |
intron_variant | MODIFIER | c.470+2541G>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 9/16 | chr5 | 69575091 | |||||||
chr5:69575198 | T | C | 1 | a0001c0001t0070g0136 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.470+2648T>C | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 9/16 | chr5 | 69575198 | |||||||
chr5:69575225 | T | C | 1 | a0001c0001t0059g0019 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.470+2675T>C | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 9/16 | chr5 | 69575225 | |||||||
chr5:69575233 | G | A | 1 | a0001c0001t0010g0137 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.470+2683G>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 9/16 | chr5 | 69575233 | |||||||
chr5:69575427 | G | A | 3 | a0001c0002t0005g0010 a0001c0002t0026g0104 a0001c0002t0027g0010 |
3 | HG01168.hp1 HG01169.hp2 HG01952.hp2 |
intron_variant | MODIFIER | c.470+2877G>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 9/16 | chr5 | 69575427 | |||||||
chr5:69575428 | C | T | 2 | a0001c0001t0054g0022 a0001c0001t0059g0019 |
2 | HG02886.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.470+2878C>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 9/16 | chr5 | 69575428 | |||||||
chr5:69575525 | G | C | 22 | a0001c0001t0010g0135 a0001c0001t0010g0137 a0001c0001t0010g0140 others(19): Show |
23 | HG01081.hp2 HG01258.hp2 HG01433.hp2 others(20): Show |
intron_variant | MODIFIER | c.470+2975G>C | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 9/16 | chr5 | 69575525 | |||||||
chr5:69575643 | T | C | 37 | a0001c0001t0002g0108 a0001c0001t0010g0135 a0001c0001t0010g0137 others(34): Show |
37 | HG00099.hp2 HG00642.hp2 HG01081.hp1 others(34): Show |
intron_variant | MODIFIER | c.471-3069T>C | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 9/16 | chr5 | 69575643 | |||||||
chr5:69575695 | G | A | 7 | a0001c0001t0046g0125 a0001c0001t0054g0022 a0001c0001t0056g0123 others(4): Show |
7 | HG01074.hp2 HG02886.hp2 HG03225.hp2 others(4): Show |
intron_variant | MODIFIER | c.471-3017G>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 9/16 | chr5 | 69575695 | |||||||
chr5:69575897 | A | G | 4 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0004g0024 others(1): Show |
4 | HG01074.hp1 HG01168.hp2 HG01175.hp1 others(1): Show |
intron_variant | MODIFIER | c.471-2815A>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 9/16 | chr5 | 69575897 | |||||||
chr5:69576464 | T | A | 1 | a0001c0001t0068g0040 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.471-2248T>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 9/16 | chr5 | 69576464 | |||||||
chr5:69576507 | T | C | 2 | a0001c0001t0082g0147 a0001c0001t0083g0086 |
2 | HG00642.hp2 HG03927.hp2 |
intron_variant | MODIFIER | c.471-2205T>C | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 9/16 | chr5 | 69576507 | |||||||
chr5:69576774 | A | G | 15 | a0001c0001t0016g0095 a0001c0001t0016g0096 a0001c0001t0017g0090 others(12): Show |
15 | HG00099.hp2 HG00642.hp2 HG01081.hp1 others(12): Show |
intron_variant | MODIFIER | c.471-1938A>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 9/16 | chr5 | 69576774 | |||||||
chr5:69577133 | C | T | 2 | a0001c0001t0054g0022 a0001c0001t0059g0019 |
2 | HG02886.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.471-1579C>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 9/16 | chr5 | 69577133 | |||||||
chr5:69577430 | C | CT | 25 | a0001c0001t0010g0135 a0001c0001t0010g0137 a0001c0001t0010g0140 others(22): Show |
26 | HG01074.hp2 HG01081.hp2 HG01258.hp2 others(23): Show |
intron_variant | MODIFIER | c.471-1269dupT | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr5 | 69577430 | ||||||
chr5:69577549 | C | T | 14 | a0001c0001t0016g0095 a0001c0001t0016g0096 a0001c0001t0017g0090 others(11): Show |
14 | HG00099.hp2 HG00642.hp2 HG01081.hp1 others(11): Show |
intron_variant | MODIFIER | c.471-1163C>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 9/16 | chr5 | 69577549 | |||||||
chr5:69577689 | G | A | 1 | a0001c0001t0054g0022 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.471-1023G>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 9/16 | chr5 | 69577689 | |||||||
chr5:69577781 | C | T | 1 | a0002c0009t0044g0049 | 1 | NA19060.hp2 | intron_variant | MODIFIER | c.471-931C>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 9/16 | chr5 | 69577781 | |||||||
chr5:69577863 | G | GGTTCTGC others(6): Show |
124 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0025 others(121): Show |
126 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(123): Show |
intron_variant | MODIFIER | c.471-848_471-847ins others(13): Show |
GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr5 | 69577863 | ||||||
chr5:69577913 | T | C | 1 | a0001c0002t0005g0109 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.471-799T>C | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 9/16 | chr5 | 69577913 | |||||||
chr5:69578507 | A | G | 6 | a0002c0003t0006g0013 a0002c0003t0006g0127 a0002c0003t0006g0129 others(3): Show |
7 | HG01081.hp2 HG01258.hp2 HG01928.hp1 others(4): Show |
intron_variant | MODIFIER | c.471-205A>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 9/16 | chr5 | 69578507 | |||||||
chr5:69578865 | A | T | 1 | a0001c0001t0040g0017 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.561+63A>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 10/16 | chr5 | 69578865 | |||||||
chr5:69578905 | T | G | 126 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0025 others(123): Show |
128 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(125): Show |
intron_variant | MODIFIER | c.561+103T>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 10/16 | chr5 | 69578905 | |||||||
chr5:69579126 | T | C | 15 | a0001c0001t0010g0135 a0001c0001t0010g0137 a0001c0001t0010g0140 others(12): Show |
15 | HG02109.hp2 HG02572.hp1 HG02647.hp1 others(12): Show |
intron_variant | MODIFIER | c.649+18T>C | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 11/16 | chr5 | 69579126 | |||||||
chr5:69579146 | C | T | 5 | a0001c0001t0002g0108 a0001c0001t0037g0085 a0001c0001t0082g0147 others(2): Show |
5 | HG00642.hp2 HG03927.hp2 NA18992.hp2 others(2): Show |
intron_variant | MODIFIER | c.649+38C>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 11/16 | chr5 | 69579146 | |||||||
chr5:69579172 | A | C | 17 | a0001c0001t0002g0108 a0001c0001t0016g0095 a0001c0001t0016g0096 others(14): Show |
17 | HG00099.hp2 HG00642.hp2 HG01081.hp1 others(14): Show |
intron_variant | MODIFIER | c.649+64A>C | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 11/16 | chr5 | 69579172 | |||||||
chr5:69579413 | G | A | 2 | a0001c0001t0001g0030 a0001c0001t0064g0041 |
2 | NA18954.hp1 NA19064.hp2 |
intron_variant | MODIFIER | c.649+305G>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 11/16 | chr5 | 69579413 | |||||||
chr5:69579546 | A | G | 6 | a0002c0003t0006g0013 a0002c0003t0006g0127 a0002c0003t0006g0129 others(3): Show |
7 | HG01081.hp2 HG01258.hp2 HG01928.hp1 others(4): Show |
intron_variant | MODIFIER | c.650-211A>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 11/16 | chr5 | 69579546 | |||||||
chr5:69579674 | G | T | 3 | a0001c0001t0029g0121 a0001c0001t0033g0009 a0001c0001t0034g0009 |
3 | HG00099.hp2 HG01175.hp2 HG01192.hp1 |
intron_variant | MODIFIER | c.650-83G>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 11/16 | chr5 | 69579674 | |||||||
chr5:69579684 | T | A | 3 | a0001c0001t0003g0054 a0001c0001t0003g0056 a0001c0001t0008g0055 |
3 | HG01975.hp2 HG02004.hp1 HG02293.hp1 |
intron_variant | MODIFIER | c.650-73T>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 11/16 | chr5 | 69579684 | |||||||
chr5:69579696 | A | G | 6 | a0002c0003t0006g0013 a0002c0003t0006g0127 a0002c0003t0006g0129 others(3): Show |
7 | HG01081.hp2 HG01258.hp2 HG01928.hp1 others(4): Show |
intron_variant | MODIFIER | c.650-61A>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 11/16 | chr5 | 69579696 | |||||||
chr5:69579908 | T | C | 1 | a0002c0009t0044g0049 | 1 | NA19060.hp2 | intron_variant | MODIFIER | c.757+44T>C | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 12/16 | chr5 | 69579908 | |||||||
chr5:69580133 | A | G | 22 | a0001c0001t0010g0135 a0001c0001t0010g0137 a0001c0001t0010g0140 others(19): Show |
23 | HG01081.hp2 HG01258.hp2 HG01928.hp1 others(20): Show |
intron_variant | MODIFIER | c.757+269A>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 12/16 | chr5 | 69580133 | |||||||
chr5:69580160 | C | T | 2 | a0001c0001t0009g0062 a0001c0002t0047g0106 |
2 | HG02273.hp2 HG04184.hp1 |
intron_variant | MODIFIER | c.757+296C>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 12/16 | chr5 | 69580160 | |||||||
chr5:69580422 | T | C | 1 | a0002c0005t0006g0128 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.757+558T>C | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 12/16 | chr5 | 69580422 | |||||||
chr5:69580460 | G | A | 5 | a0002c0004t0011g0088 a0002c0004t0011g0092 a0002c0004t0011g0100 others(2): Show |
5 | HG01256.hp1 HG02451.hp1 HG02922.hp2 others(2): Show |
intron_variant | MODIFIER | c.757+596G>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 12/16 | chr5 | 69580460 | |||||||
chr5:69580666 | A | G | 127 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0025 others(124): Show |
129 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(126): Show |
intron_variant | MODIFIER | c.757+802A>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 12/16 | chr5 | 69580666 | |||||||
chr5:69580710 | T | G | 1 | a0001c0001t0083g0086 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.757+846T>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 12/16 | chr5 | 69580710 | |||||||
chr5:69580808 | A | G | 7 | a0002c0003t0006g0013 a0002c0003t0006g0127 a0002c0003t0006g0129 others(4): Show |
8 | HG01081.hp2 HG01258.hp2 HG01928.hp1 others(5): Show |
intron_variant | MODIFIER | c.757+944A>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 12/16 | chr5 | 69580808 | |||||||
chr5:69580860 | G | C | 1 | a0001c0001t0001g0068 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.757+996G>C | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 12/16 | chr5 | 69580860 | |||||||
chr5:69580886 | CT | C | 5 | a0001c0001t0012g0079 a0001c0001t0024g0142 a0001c0001t0072g0143 others(2): Show |
5 | HG01081.hp2 HG02293.hp2 HG02886.hp1 others(2): Show |
intron_variant | MODIFIER | c.757+1032delT | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr5 | 69580886 | ||||||
chr5:69580899 | T | C | 1 | a0001c0002t0025g0071 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.757+1035T>C | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 12/16 | chr5 | 69580899 | |||||||
chr5:69581083 | G | A | 71 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0025 others(68): Show |
72 | HG00099.hp1 HG00423.hp1 HG00423.hp2 others(69): Show |
intron_variant | MODIFIER | c.757+1219G>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 12/16 | chr5 | 69581083 | |||||||
chr5:69581138 | C | T | 1 | a0002c0009t0044g0049 | 1 | NA19060.hp2 | intron_variant | MODIFIER | c.758-1228C>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 12/16 | chr5 | 69581138 | |||||||
chr5:69581264 | G | T | 129 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0025 others(126): Show |
133 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(130): Show |
intron_variant | MODIFIER | c.758-1102G>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 12/16 | chr5 | 69581264 | |||||||
chr5:69581279 | A | G | 2 | a0002c0004t0011g0088 a0002c0004t0011g0100 |
2 | HG02451.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.758-1087A>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 12/16 | chr5 | 69581279 | |||||||
chr5:69581459 | T | C | 1 | a0001c0001t0059g0019 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.758-907T>C | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 12/16 | chr5 | 69581459 | |||||||
chr5:69581508 | T | C | 7 | a0002c0003t0006g0013 a0002c0003t0006g0127 a0002c0003t0006g0129 others(4): Show |
8 | HG01081.hp2 HG01258.hp2 HG01928.hp1 others(5): Show |
intron_variant | MODIFIER | c.758-858T>C | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 12/16 | chr5 | 69581508 | |||||||
chr5:69581606 | C | T | 4 | a0001c0001t0046g0125 a0001c0001t0056g0123 a0001c0001t0057g0122 others(1): Show |
4 | HG01074.hp2 HG03225.hp2 HG03579.hp1 others(1): Show |
intron_variant | MODIFIER | c.758-760C>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 12/16 | chr5 | 69581606 | |||||||
chr5:69581971 | A | G | 1 | a0002c0009t0044g0049 | 1 | NA19060.hp2 | intron_variant | MODIFIER | c.758-395A>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 12/16 | chr5 | 69581971 | |||||||
chr5:69582175 | G | A | 1 | a0002c0009t0044g0049 | 1 | NA19060.hp2 | intron_variant | MODIFIER | c.758-191G>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 12/16 | chr5 | 69582175 | |||||||
chr5:69582319 | C | T | 6 | a0002c0003t0006g0013 a0002c0003t0006g0127 a0002c0003t0006g0129 others(3): Show |
7 | HG01081.hp2 HG01258.hp2 HG01928.hp1 others(4): Show |
intron_variant | MODIFIER | c.758-47C>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 12/16 | chr5 | 69582319 | |||||||
chr5:69582457 | A | G | 125 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0025 others(122): Show |
127 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(124): Show |
intron_variant | MODIFIER | c.821+28A>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69582457 | |||||||
chr5:69582719 | T | A | 1 | a0001c0001t0001g0043 | 1 | NA19084.hp1 | intron_variant | MODIFIER | c.821+290T>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69582719 | |||||||
chr5:69582812 | C | T | 125 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0025 others(122): Show |
127 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(124): Show |
intron_variant | MODIFIER | c.821+383C>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69582812 | |||||||
chr5:69582819 | T | C | 15 | a0001c0001t0040g0017 a0001c0001t0046g0125 a0001c0001t0054g0022 others(12): Show |
16 | HG01074.hp2 HG01081.hp2 HG01258.hp2 others(13): Show |
intron_variant | MODIFIER | c.821+390T>C | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69582819 | |||||||
chr5:69582828 | C | T | 1 | a0002c0009t0044g0049 | 1 | NA19060.hp2 | intron_variant | MODIFIER | c.821+399C>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69582828 | |||||||
chr5:69582881 | A | C | 1 | a0001c0001t0003g0056 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.821+452A>C | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69582881 | |||||||
chr5:69582941 | C | T | 126 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0025 others(123): Show |
128 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(125): Show |
intron_variant | MODIFIER | c.821+512C>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69582941 | |||||||
chr5:69583009 | T | C | 1 | a0001c0001t0003g0034 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.821+580T>C | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69583009 | |||||||
chr5:69583152 | A | G | 12 | a0001c0001t0016g0095 a0001c0001t0016g0096 a0001c0001t0017g0090 others(9): Show |
12 | HG00099.hp2 HG01081.hp1 HG01175.hp2 others(9): Show |
intron_variant | MODIFIER | c.821+723A>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69583152 | |||||||
chr5:69583208 | G | C | 1 | a0001c0002t0002g0115 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.821+779G>C | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69583208 | |||||||
chr5:69583322 | G | C | 5 | a0001c0001t0016g0095 a0001c0001t0016g0096 a0001c0001t0017g0101 others(2): Show |
5 | HG01081.hp1 HG01978.hp2 HG03017.hp2 others(2): Show |
intron_variant | MODIFIER | c.821+893G>C | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69583322 | |||||||
chr5:69583392 | TC | T | 2 | a0001c0001t0015g0141 a0004c0008t0001g0069 |
2 | HG02976.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.821+965delC | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr5 | 69583392 | ||||||
chr5:69583776 | AAAAAG | A | 4 | a0001c0001t0010g0140 a0001c0001t0021g0067 a0001c0001t0070g0136 others(1): Show |
4 | HG02818.hp1 HG03710.hp1 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.821+1367_821+1371d others(7): Show |
GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr5 | 69583776 | ||||||
chr5:69583833 | C | A | 124 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0025 others(121): Show |
126 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(123): Show |
intron_variant | MODIFIER | c.821+1404C>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69583833 | |||||||
chr5:69583925 | C | CA | 88 | a0001c0001t0001g0005 a0001c0001t0001g0025 a0001c0001t0001g0026 others(85): Show |
89 | HG00099.hp2 HG00423.hp1 HG00423.hp2 others(86): Show |
intron_variant | MODIFIER | c.821+1505dupA | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr5 | 69583925 | ||||||
chr5:69583925 | C | CAA | 14 | a0001c0001t0009g0074 a0001c0001t0009g0075 a0001c0001t0015g0138 others(11): Show |
15 | HG00544.hp1 HG00544.hp2 HG01081.hp2 others(12): Show |
intron_variant | MODIFIER | c.821+1504_821+1505d others(4): Show |
GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr5 | 69583925 | ||||||
chr5:69583935 | G | A | 123 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0025 others(120): Show |
125 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(122): Show |
intron_variant | MODIFIER | c.821+1506G>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69583935 | |||||||
chr5:69583954 | C | A | 124 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0025 others(121): Show |
126 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(123): Show |
intron_variant | MODIFIER | c.821+1525C>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69583954 | |||||||
chr5:69584136 | A | C | 125 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0025 others(122): Show |
127 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(124): Show |
intron_variant | MODIFIER | c.822-1458A>C | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69584136 | |||||||
chr5:69584166 | C | T | 1 | a0002c0009t0044g0049 | 1 | NA19060.hp2 | intron_variant | MODIFIER | c.822-1428C>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69584166 | |||||||
chr5:69584221 | G | A | 1 | a0001c0001t0062g0028 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.822-1373G>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69584221 | |||||||
chr5:69584222 | A | C | 1 | a0001c0001t0062g0028 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.822-1372A>C | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69584222 | |||||||
chr5:69584224 | A | C | 1 | a0001c0001t0062g0028 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.822-1370A>C | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69584224 | |||||||
chr5:69584225 | C | T | 1 | a0001c0001t0062g0028 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.822-1369C>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69584225 | |||||||
chr5:69584226 | C | A | 1 | a0001c0001t0062g0028 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.822-1368C>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69584226 | |||||||
chr5:69584227 | C | G | 1 | a0001c0001t0062g0028 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.822-1367C>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69584227 | |||||||
chr5:69584231 | T | G | 1 | a0001c0001t0062g0028 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.822-1363T>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69584231 | |||||||
chr5:69584233 | T | G | 1 | a0001c0001t0062g0028 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.822-1361T>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69584233 | |||||||
chr5:69584234 | A | T | 1 | a0001c0001t0062g0028 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.822-1360A>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69584234 | |||||||
chr5:69584235 | C | G | 1 | a0001c0001t0062g0028 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.822-1359C>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69584235 | |||||||
chr5:69584237 | A | T | 1 | a0001c0001t0062g0028 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.822-1357A>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69584237 | |||||||
chr5:69584250 | T | A | 1 | a0004c0008t0001g0069 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.822-1344T>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69584250 | |||||||
chr5:69584279 | A | G | 71 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0025 others(68): Show |
72 | HG00099.hp1 HG00423.hp1 HG00423.hp2 others(69): Show |
intron_variant | MODIFIER | c.822-1315A>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69584279 | |||||||
chr5:69584349 | A | G | 7 | a0001c0001t0046g0125 a0001c0001t0054g0022 a0001c0001t0056g0123 others(4): Show |
7 | HG01074.hp2 HG02886.hp2 HG03225.hp2 others(4): Show |
intron_variant | MODIFIER | c.822-1245A>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69584349 | |||||||
chr5:69584465 | T | G | 1 | a0001c0001t0040g0017 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.822-1129T>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69584465 | |||||||
chr5:69584707 | G | A | 1 | a0001c0001t0040g0017 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.822-887G>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69584707 | |||||||
chr5:69584801 | G | T | 1 | a0002c0003t0081g0130 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.822-793G>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69584801 | |||||||
chr5:69584939 | T | G | 125 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0025 others(122): Show |
127 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(124): Show |
intron_variant | MODIFIER | c.822-655T>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69584939 | |||||||
chr5:69584946 | CA | C | 10 | a0001c0001t0001g0063 a0001c0001t0003g0034 a0001c0001t0004g0033 others(7): Show |
10 | HG01192.hp2 HG02135.hp1 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.822-629delA | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr5 | 69584946 | ||||||
chr5:69584946 | CAA | C | 82 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0025 others(79): Show |
84 | HG00099.hp1 HG00423.hp1 HG00423.hp2 others(81): Show |
intron_variant | MODIFIER | c.822-630_822-629del others(2): Show |
GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr5 | 69584946 | ||||||
chr5:69584946 | CAAA | C | 30 | a0001c0001t0001g0026 a0001c0001t0010g0135 a0001c0001t0010g0137 others(27): Show |
30 | HG00099.hp2 HG00642.hp2 HG01081.hp1 others(27): Show |
intron_variant | MODIFIER | c.822-631_822-629del others(3): Show |
GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr5 | 69584946 | ||||||
chr5:69585000 | G | T | 123 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0025 others(120): Show |
125 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(122): Show |
intron_variant | MODIFIER | c.822-594G>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69585000 | |||||||
chr5:69585053 | TGGCTCAC others(3): Show |
T | 1 | a0001c0001t0062g0028 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.822-540_822-531del others(10): Show |
GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69585053 | |||||||
chr5:69585068 | A | G | 1 | a0001c0001t0062g0028 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.822-526A>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69585068 | |||||||
chr5:69585069 | T | G | 1 | a0001c0001t0062g0028 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.822-525T>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69585069 | |||||||
chr5:69585082 | G | T | 1 | a0001c0001t0062g0028 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.822-512G>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69585082 | |||||||
chr5:69585088 | T | C | 1 | a0001c0001t0062g0028 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.822-506T>C | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69585088 | |||||||
chr5:69585089 | A | C | 1 | a0001c0001t0062g0028 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.822-505A>C | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69585089 | |||||||
chr5:69585091 | G | T | 1 | a0001c0001t0062g0028 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.822-503G>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69585091 | |||||||
chr5:69585096 | G | T | 1 | a0001c0001t0062g0028 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.822-498G>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69585096 | |||||||
chr5:69585097 | T | G | 1 | a0001c0001t0062g0028 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.822-497T>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69585097 | |||||||
chr5:69585099 | G | T | 1 | a0001c0001t0062g0028 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.822-495G>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69585099 | |||||||
chr5:69585100 | A | C | 1 | a0001c0001t0062g0028 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.822-494A>C | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69585100 | |||||||
chr5:69585102 | C | A | 1 | a0001c0001t0062g0028 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.822-492C>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69585102 | |||||||
chr5:69585107 | G | A | 1 | a0001c0001t0062g0028 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.822-487G>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69585107 | |||||||
chr5:69585110 | G | T | 1 | a0001c0001t0062g0028 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.822-484G>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69585110 | |||||||
chr5:69585116 | A | T | 1 | a0001c0001t0062g0028 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.822-478A>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69585116 | |||||||
chr5:69585121 | A | T | 1 | a0001c0001t0062g0028 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.822-473A>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69585121 | |||||||
chr5:69585148 | C | A | 1 | a0001c0001t0062g0028 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.822-446C>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69585148 | |||||||
chr5:69585149 | A | T | 1 | a0001c0001t0062g0028 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.822-445A>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69585149 | |||||||
chr5:69585150 | T | G | 1 | a0001c0001t0062g0028 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.822-444T>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69585150 | |||||||
chr5:69585155 | AC | A | 122 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0026 others(119): Show |
124 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(121): Show |
intron_variant | MODIFIER | c.822-438delC | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69585155 | |||||||
chr5:69585156 | C | T | 2 | a0001c0001t0001g0025 a0001c0001t0062g0028 |
2 | HG01074.hp1 NA18967.hp2 |
intron_variant | MODIFIER | c.822-438C>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69585156 | |||||||
chr5:69585157 | A | T | 122 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0026 others(119): Show |
124 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(121): Show |
intron_variant | MODIFIER | c.822-437A>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69585157 | |||||||
chr5:69585158 | A | T | 1 | a0001c0001t0001g0025 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.822-436A>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69585158 | |||||||
chr5:69585159 | A | C | 1 | a0001c0001t0062g0028 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.822-435A>C | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69585159 | |||||||
chr5:69585159 | A | T | 122 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0026 others(119): Show |
124 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(121): Show |
intron_variant | MODIFIER | c.822-435A>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69585159 | |||||||
chr5:69585160 | A | T | 1 | a0001c0001t0062g0028 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.822-434A>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69585160 | |||||||
chr5:69585161 | A | G | 1 | a0001c0001t0001g0025 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.822-433A>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69585161 | |||||||
chr5:69585162 | G | A | 1 | a0001c0001t0062g0028 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.822-432G>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69585162 | |||||||
chr5:69585162 | G | T | 1 | a0001c0001t0001g0025 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.822-432G>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69585162 | |||||||
chr5:69585168 | A | C | 1 | a0001c0001t0062g0028 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.822-426A>C | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69585168 | |||||||
chr5:69585169 | AT | A | 117 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0026 others(114): Show |
119 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(116): Show |
intron_variant | MODIFIER | c.822-415delT | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr5 | 69585169 | ||||||
chr5:69585179 | T | A | 1 | a0001c0002t0053g0119 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.822-415T>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69585179 | |||||||
chr5:69585180 | A | C | 1 | a0001c0001t0062g0028 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.822-414A>C | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69585180 | |||||||
chr5:69585181 | A | C | 1 | a0001c0001t0062g0028 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.822-413A>C | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69585181 | |||||||
chr5:69585182 | A | C | 1 | a0001c0001t0062g0028 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.822-412A>C | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69585182 | |||||||
chr5:69585183 | T | C | 1 | a0001c0001t0062g0028 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.822-411T>C | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69585183 | |||||||
chr5:69585186 | A | C | 1 | a0001c0001t0062g0028 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.822-408A>C | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69585186 | |||||||
chr5:69585187 | G | T | 1 | a0001c0001t0062g0028 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.822-407G>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69585187 | |||||||
chr5:69585188 | A | T | 1 | a0001c0001t0062g0028 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.822-406A>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69585188 | |||||||
chr5:69585190 | T | A | 1 | a0001c0001t0062g0028 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.822-404T>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69585190 | |||||||
chr5:69585192 | C | T | 1 | a0001c0001t0062g0028 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.822-402C>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69585192 | |||||||
chr5:69585197 | G | T | 1 | a0001c0001t0062g0028 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.822-397G>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69585197 | |||||||
chr5:69585197 | GT | G | 5 | a0001c0001t0001g0043 a0001c0001t0015g0141 a0001c0001t0017g0090 others(2): Show |
5 | HG01358.hp2 HG02976.hp1 HG06807.hp1 others(2): Show |
intron_variant | MODIFIER | c.822-387delT | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr5 | 69585197 | ||||||
chr5:69585216 | G | T | 1 | a0001c0001t0062g0028 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.822-378G>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69585216 | |||||||
chr5:69585226 | T | G | 1 | a0001c0001t0062g0028 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.822-368T>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69585226 | |||||||
chr5:69585227 | G | T | 1 | a0001c0001t0062g0028 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.822-367G>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69585227 | |||||||
chr5:69585268 | G | A | 1 | a0001c0001t0062g0028 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.822-326G>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69585268 | |||||||
chr5:69585304 | C | G | 1 | a0001c0001t0062g0028 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.822-290C>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69585304 | |||||||
chr5:69585305 | A | G | 1 | a0001c0001t0062g0028 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.822-289A>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69585305 | |||||||
chr5:69585306 | G | C | 1 | a0001c0001t0062g0028 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.822-288G>C | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69585306 | |||||||
chr5:69585308 | C | T | 1 | a0001c0001t0062g0028 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.822-286C>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69585308 | |||||||
chr5:69585335 | C | A | 1 | a0001c0001t0062g0028 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.822-259C>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69585335 | |||||||
chr5:69585337 | G | C | 1 | a0001c0001t0062g0028 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.822-257G>C | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69585337 | |||||||
chr5:69585423 | C | T | 1 | a0001c0001t0062g0028 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.822-171C>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69585423 | |||||||
chr5:69585444 | TG | T | 3 | a0001c0001t0045g0036 a0001c0001t0057g0122 a0001c0001t0070g0136 |
3 | HG01074.hp2 HG02818.hp1 NA19066.hp2 |
intron_variant | MODIFIER | c.822-147delG | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr5 | 69585444 | ||||||
chr5:69585488 | C | T | 71 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0025 others(68): Show |
72 | HG00099.hp1 HG00423.hp1 HG00423.hp2 others(69): Show |
intron_variant | MODIFIER | c.822-106C>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69585488 | |||||||
chr5:69585505 | A | T | 1 | a0001c0001t0015g0141 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.822-89A>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | chr5 | 69585505 | |||||||
chr5:69585551 | T | TA | 2 | a0001c0001t0004g0044 a0001c0001t0008g0029 |
2 | HG03704.hp1 NA19009.hp2 |
intron_variant | MODIFIER | c.822-41dupA | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr5 | 69585551 | ||||||
chr5:69585781 | G | C | 5 | a0001c0001t0039g0018 a0001c0001t0040g0017 a0001c0001t0041g0014 others(2): Show |
5 | HG02451.hp2 HG02965.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.925+84G>C | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 14/16 | chr5 | 69585781 | |||||||
chr5:69585863 | C | T | 124 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0025 others(121): Show |
126 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(123): Show |
intron_variant | MODIFIER | c.925+166C>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 14/16 | chr5 | 69585863 | |||||||
chr5:69585895 | T | C | 1 | a0001c0001t0008g0029 | 1 | NA19009.hp2 | intron_variant | MODIFIER | c.925+198T>C | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 14/16 | chr5 | 69585895 | |||||||
chr5:69585896 | C | T | 1 | a0001c0001t0008g0029 | 1 | NA19009.hp2 | intron_variant | MODIFIER | c.925+199C>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 14/16 | chr5 | 69585896 | |||||||
chr5:69585897 | T | C | 1 | a0001c0001t0008g0029 | 1 | NA19009.hp2 | intron_variant | MODIFIER | c.925+200T>C | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 14/16 | chr5 | 69585897 | |||||||
chr5:69585947 | A | AT | 3 | a0001c0001t0009g0062 a0001c0001t0021g0035 a0004c0008t0001g0069 |
3 | HG02273.hp2 NA18979.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.925+255dupT | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr5 | 69585947 | ||||||
chr5:69585973 | G | C | 1 | a0001c0001t0061g0103 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.925+276G>C | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 14/16 | chr5 | 69585973 | |||||||
chr5:69586010 | A | G | 1 | a0001c0001t0015g0138 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.926-244A>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 14/16 | chr5 | 69586010 | |||||||
chr5:69586056 | G | A | 1 | a0001c0002t0038g0113 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.926-198G>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 14/16 | chr5 | 69586056 | |||||||
chr5:69586163 | A | T | 1 | a0001c0001t0039g0018 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.926-91A>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 14/16 | chr5 | 69586163 | |||||||
chr5:69586431 | A | C | 1 | a0001c0002t0052g0112 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.1028+75A>C | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | chr5 | 69586431 | |||||||
chr5:69586470 | T | A | 1 | a0001c0001t0070g0136 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.1028+114T>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | chr5 | 69586470 | |||||||
chr5:69586632 | C | G | 1 | a0001c0001t0070g0136 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.1028+276C>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | chr5 | 69586632 | |||||||
chr5:69586883 | TA | T | 4 | a0001c0001t0001g0025 a0001c0001t0004g0033 a0001c0001t0070g0136 others(1): Show |
4 | HG01074.hp1 HG02135.hp1 HG02818.hp1 others(1): Show |
intron_variant | MODIFIER | c.1028+533delA | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr5 | 69586883 | ||||||
chr5:69586921 | C | T | 1 | a0001c0002t0052g0112 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.1028+565C>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | chr5 | 69586921 | |||||||
chr5:69587039 | G | T | 1 | a0001c0002t0005g0111 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.1028+683G>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | chr5 | 69587039 | |||||||
chr5:69587041 | A | G | 118 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0025 others(115): Show |
119 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(116): Show |
intron_variant | MODIFIER | c.1028+685A>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | chr5 | 69587041 | |||||||
chr5:69587180 | CA | C | 47 | a0001c0001t0001g0025 a0001c0001t0010g0135 a0001c0001t0010g0137 others(44): Show |
47 | HG00099.hp2 HG00642.hp2 HG01074.hp1 others(44): Show |
intron_variant | MODIFIER | c.1028+837delA | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr5 | 69587180 | ||||||
chr5:69587234 | T | G | 1 | a0001c0001t0037g0085 | 1 | NA19087.hp2 | intron_variant | MODIFIER | c.1028+878T>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | chr5 | 69587234 | |||||||
chr5:69587268 | G | A | 118 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0025 others(115): Show |
119 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(116): Show |
intron_variant | MODIFIER | c.1028+912G>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | chr5 | 69587268 | |||||||
chr5:69587297 | G | T | 118 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0025 others(115): Show |
119 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(116): Show |
intron_variant | MODIFIER | c.1028+941G>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | chr5 | 69587297 | |||||||
chr5:69587366 | G | C | 118 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0025 others(115): Show |
119 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(116): Show |
intron_variant | MODIFIER | c.1028+1010G>C | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | chr5 | 69587366 | |||||||
chr5:69587386 | TTTGGGAG others(25): Show |
T | 117 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0025 others(114): Show |
118 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(115): Show |
intron_variant | MODIFIER | c.1028+1032_1028+106 others(36): Show |
GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr5 | 69587386 | ||||||
chr5:69587460 | G | A | 118 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0025 others(115): Show |
119 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(116): Show |
intron_variant | MODIFIER | c.1028+1104G>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | chr5 | 69587460 | |||||||
chr5:69587556 | T | A | 117 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0025 others(114): Show |
118 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(115): Show |
intron_variant | MODIFIER | c.1028+1200T>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | chr5 | 69587556 | |||||||
chr5:69587617 | G | A | 1 | a0001c0001t0002g0108 | 1 | NA19087.hp1 | intron_variant | MODIFIER | c.1028+1261G>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | chr5 | 69587617 | |||||||
chr5:69587660 | A | G | 118 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0025 others(115): Show |
119 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(116): Show |
intron_variant | MODIFIER | c.1028+1304A>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | chr5 | 69587660 | |||||||
chr5:69587687 | A | G | 118 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0025 others(115): Show |
119 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(116): Show |
intron_variant | MODIFIER | c.1028+1331A>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | chr5 | 69587687 | |||||||
chr5:69587710 | G | A | 1 | a0001c0001t0082g0147 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.1028+1354G>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | chr5 | 69587710 | |||||||
chr5:69587725 | G | A | 118 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0025 others(115): Show |
119 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(116): Show |
intron_variant | MODIFIER | c.1028+1369G>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | chr5 | 69587725 | |||||||
chr5:69587744 | A | G | 117 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0025 others(114): Show |
118 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(115): Show |
intron_variant | MODIFIER | c.1028+1388A>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | chr5 | 69587744 | |||||||
chr5:69587786 | A | C | 6 | a0001c0001t0054g0022 a0001c0001t0056g0123 a0001c0001t0057g0122 others(3): Show |
6 | HG01074.hp2 HG02886.hp2 HG03516.hp1 others(3): Show |
intron_variant | MODIFIER | c.1028+1430A>C | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | chr5 | 69587786 | |||||||
chr5:69587842 | GA | G | 2 | a0001c0001t0037g0085 a0001c0001t0069g0146 |
2 | HG02572.hp1 NA19087.hp2 |
intron_variant | MODIFIER | c.1028+1487delA | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | chr5 | 69587842 | |||||||
chr5:69587842 | GAT | G | 44 | a0001c0001t0010g0135 a0001c0001t0010g0137 a0001c0001t0010g0140 others(41): Show |
44 | HG00099.hp2 HG00642.hp2 HG01074.hp2 others(41): Show |
intron_variant | MODIFIER | c.1028+1487_1028+148 others(6): Show |
GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | chr5 | 69587842 | |||||||
chr5:69587843 | A | G | 71 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0025 others(68): Show |
72 | HG00099.hp1 HG00423.hp1 HG00423.hp2 others(69): Show |
intron_variant | MODIFIER | c.1028+1487A>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | chr5 | 69587843 | |||||||
chr5:69587844 | T | G | 3 | a0001c0001t0001g0063 a0001c0001t0001g0064 a0004c0008t0001g0069 |
3 | HG02257.hp2 HG02559.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.1028+1488T>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | chr5 | 69587844 | |||||||
chr5:69587846 | TTC | T | 67 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0025 others(64): Show |
68 | HG00099.hp1 HG00423.hp1 HG00423.hp2 others(65): Show |
intron_variant | MODIFIER | c.1028+1492_1028+149 others(6): Show |
GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr5 | 69587846 | ||||||
chr5:69587847 | TC | T | 3 | a0001c0001t0009g0074 a0001c0001t0009g0076 a0001c0001t0062g0028 |
3 | HG00544.hp2 HG02818.hp2 NA18967.hp2 |
intron_variant | MODIFIER | c.1028+1492delC | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | chr5 | 69587847 | |||||||
chr5:69587848 | C | T | 48 | a0001c0001t0010g0135 a0001c0001t0010g0137 a0001c0001t0010g0140 others(45): Show |
48 | HG00099.hp2 HG00544.hp1 HG00642.hp2 others(45): Show |
intron_variant | MODIFIER | c.1028+1492C>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | chr5 | 69587848 | |||||||
chr5:69588005 | G | C | 118 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0025 others(115): Show |
119 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(116): Show |
intron_variant | MODIFIER | c.1028+1649G>C | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | chr5 | 69588005 | |||||||
chr5:69588023 | C | G | 1 | a0001c0001t0040g0017 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1028+1667C>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | chr5 | 69588023 | |||||||
chr5:69588149 | G | A | 118 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0025 others(115): Show |
119 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(116): Show |
intron_variant | MODIFIER | c.1028+1793G>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | chr5 | 69588149 | |||||||
chr5:69588187 | G | A | 6 | a0002c0003t0006g0013 a0002c0003t0006g0127 a0002c0003t0006g0129 others(3): Show |
7 | HG01081.hp2 HG01258.hp2 HG01928.hp1 others(4): Show |
intron_variant | MODIFIER | c.1028+1831G>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | chr5 | 69588187 | |||||||
chr5:69588262 | T | TATTC | 10 | a0001c0001t0040g0017 a0001c0001t0045g0036 a0001c0001t0046g0125 others(7): Show |
11 | HG01081.hp2 HG01258.hp2 HG01928.hp1 others(8): Show |
intron_variant | MODIFIER | c.1028+1907_1028+190 others(8): Show |
GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr5 | 69588262 | ||||||
chr5:69588276 | T | C | 1 | a0001c0002t0002g0102 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.1028+1920T>C | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | chr5 | 69588276 | |||||||
chr5:69588284 | G | C | 36 | a0001c0001t0010g0135 a0001c0001t0010g0137 a0001c0001t0010g0140 others(33): Show |
36 | HG00099.hp2 HG00642.hp2 HG01081.hp1 others(33): Show |
intron_variant | MODIFIER | c.1028+1928G>C | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | chr5 | 69588284 | |||||||
chr5:69588288 | AAT | A | 117 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0025 others(114): Show |
118 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(115): Show |
intron_variant | MODIFIER | c.1028+1935_1028+193 others(6): Show |
GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr5 | 69588288 | ||||||
chr5:69588290 | T | A | 1 | a0001c0001t0037g0085 | 1 | NA19087.hp2 | intron_variant | MODIFIER | c.1028+1934T>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | chr5 | 69588290 | |||||||
chr5:69588376 | A | G | 68 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0025 others(65): Show |
69 | HG00099.hp1 HG00423.hp1 HG00423.hp2 others(66): Show |
intron_variant | MODIFIER | c.1029-1952A>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | chr5 | 69588376 | |||||||
chr5:69588465 | A | C | 131 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0025 others(128): Show |
136 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(133): Show |
intron_variant | MODIFIER | c.1029-1863A>C | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | chr5 | 69588465 | |||||||
chr5:69588469 | G | T | 126 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0025 others(123): Show |
128 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(125): Show |
intron_variant | MODIFIER | c.1029-1859G>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | chr5 | 69588469 | |||||||
chr5:69588740 | G | A | 117 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0025 others(114): Show |
118 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(115): Show |
intron_variant | MODIFIER | c.1029-1588G>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | chr5 | 69588740 | |||||||
chr5:69588757 | A | T | 1 | a0001c0001t0061g0103 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.1029-1571A>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | chr5 | 69588757 | |||||||
chr5:69588778 | A | G | 126 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0025 others(123): Show |
128 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(125): Show |
intron_variant | MODIFIER | c.1029-1550A>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | chr5 | 69588778 | |||||||
chr5:69588829 | A | T | 1 | a0001c0001t0001g0046 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.1029-1499A>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | chr5 | 69588829 | |||||||
chr5:69588877 | G | A | 15 | a0001c0001t0010g0135 a0001c0001t0010g0137 a0001c0001t0010g0140 others(12): Show |
15 | HG02109.hp2 HG02572.hp1 HG02647.hp1 others(12): Show |
intron_variant | MODIFIER | c.1029-1451G>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | chr5 | 69588877 | |||||||
chr5:69589113 | C | T | 1 | a0001c0001t0046g0125 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1029-1215C>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | chr5 | 69589113 | |||||||
chr5:69589188 | G | GA | 104 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0026 others(101): Show |
105 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(102): Show |
intron_variant | MODIFIER | c.1029-1130dupA | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr5 | 69589188 | ||||||
chr5:69589199 | T | A | 1 | a0001c0002t0004g0073 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.1029-1129T>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | chr5 | 69589199 | |||||||
chr5:69589200 | G | T | 1 | a0001c0002t0004g0073 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.1029-1128G>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | chr5 | 69589200 | |||||||
chr5:69589201 | T | G | 1 | a0001c0002t0004g0073 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.1029-1127T>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | chr5 | 69589201 | |||||||
chr5:69589224 | G | A | 2 | a0001c0001t0022g0081 a0001c0001t0055g0059 |
2 | HG00642.hp1 HG01255.hp2 |
intron_variant | MODIFIER | c.1029-1104G>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | chr5 | 69589224 | |||||||
chr5:69589491 | A | T | 1 | a0004c0008t0001g0069 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.1029-837A>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | chr5 | 69589491 | |||||||
chr5:69589568 | C | G | 71 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0025 others(68): Show |
72 | HG00099.hp1 HG00423.hp1 HG00423.hp2 others(69): Show |
intron_variant | MODIFIER | c.1029-760C>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | chr5 | 69589568 | |||||||
chr5:69589790 | A | C | 16 | a0001c0001t0016g0095 a0001c0001t0016g0096 a0001c0001t0017g0090 others(13): Show |
16 | HG00099.hp2 HG00642.hp2 HG01081.hp1 others(13): Show |
intron_variant | MODIFIER | c.1029-538A>C | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | chr5 | 69589790 | |||||||
chr5:69589797 | A | T | 1 | a0001c0001t0021g0067 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.1029-531A>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | chr5 | 69589797 | |||||||
chr5:69589875 | C | CT | 9 | a0001c0001t0002g0108 a0001c0001t0004g0024 a0001c0001t0017g0090 others(6): Show |
9 | HG01175.hp1 HG01358.hp1 HG03486.hp1 others(6): Show |
intron_variant | MODIFIER | c.1029-429dupT | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr5 | 69589875 | ||||||
chr5:69589875 | C | CTT | 5 | a0001c0001t0010g0140 a0001c0001t0024g0142 a0001c0001t0070g0136 others(2): Show |
5 | HG02818.hp1 HG02886.hp1 HG03041.hp2 others(2): Show |
intron_variant | MODIFIER | c.1029-430_1029-429d others(4): Show |
GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr5 | 69589875 | ||||||
chr5:69589875 | C | CTTT | 10 | a0001c0001t0010g0135 a0001c0001t0010g0137 a0001c0001t0010g0145 others(7): Show |
10 | HG02109.hp2 HG02572.hp1 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.1029-431_1029-429d others(5): Show |
GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr5 | 69589875 | ||||||
chr5:69589875 | CT | C | 49 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0025 others(46): Show |
50 | HG00099.hp1 HG00423.hp2 HG00544.hp2 others(47): Show |
intron_variant | MODIFIER | c.1029-429delT | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr5 | 69589875 | ||||||
chr5:69589875 | CTT | C | 6 | a0001c0001t0001g0047 a0001c0001t0013g0037 a0001c0001t0013g0048 others(3): Show |
6 | HG03017.hp1 HG03041.hp1 HG03834.hp1 others(3): Show |
intron_variant | MODIFIER | c.1029-430_1029-429d others(4): Show |
GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr5 | 69589875 | ||||||
chr5:69589875 | CTTTTT | C | 7 | a0001c0001t0045g0036 a0001c0001t0046g0125 a0002c0003t0006g0013 others(4): Show |
8 | HG01081.hp2 HG01258.hp2 HG01928.hp1 others(5): Show |
intron_variant | MODIFIER | c.1029-433_1029-429d others(7): Show |
GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr5 | 69589875 | ||||||
chr5:69589875 | CTTTTTTT others(7): Show |
C | 1 | a0001c0002t0002g0011 | 2 | HG01256.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.1029-442_1029-429d others(16): Show |
GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr5 | 69589875 | ||||||
chr5:69589987 | C | T | 1 | a0001c0001t0079g0031 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.1029-341C>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | chr5 | 69589987 | |||||||
chr5:69590086 | C | T | 2 | a0001c0001t0045g0036 a0001c0001t0046g0125 |
2 | HG03225.hp2 NA19066.hp2 |
intron_variant | MODIFIER | c.1029-242C>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | chr5 | 69590086 | |||||||
chr5:69590131 | C | T | 8 | a0001c0001t0045g0036 a0001c0001t0046g0125 a0002c0003t0006g0013 others(5): Show |
9 | HG01081.hp2 HG01258.hp2 HG01928.hp1 others(6): Show |
intron_variant | MODIFIER | c.1029-197C>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | chr5 | 69590131 | |||||||
chr5:69590313 | A | T | 1 | a0001c0001t0037g0085 | 1 | NA19087.hp2 | intron_variant | MODIFIER | c.1029-15A>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | chr5 | 69590313 | |||||||
chr5:69590316 | C | A | 1 | a0001c0001t0037g0085 | 1 | NA19087.hp2 | intron_variant | MODIFIER | c.1029-12C>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | chr5 | 69590316 | |||||||
chr5:69590317 | T | C | 1 | a0001c0001t0037g0085 | 1 | NA19087.hp2 | intron_variant | MODIFIER | c.1029-11T>C | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | chr5 | 69590317 | |||||||
chr5:69590558 | A | T | 1 | a0001c0001t0037g0085 | 1 | NA19087.hp2 | intron_variant | MODIFIER | c.1068+191A>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 16/16 | chr5 | 69590558 | |||||||
chr5:69590601 | T | C | 2 | a0001c0001t0003g0070 a0001c0002t0025g0071 |
2 | HG02735.hp1 HG03834.hp2 |
intron_variant | MODIFIER | c.1068+234T>C | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 16/16 | chr5 | 69590601 | |||||||
chr5:69590820 | T | A | 1 | a0001c0002t0018g0110 | 1 | NA19064.hp1 | intron_variant | MODIFIER | c.1068+453T>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 16/16 | chr5 | 69590820 | |||||||
chr5:69590960 | T | C | 1 | a0001c0001t0013g0020 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.1068+593T>C | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 16/16 | chr5 | 69590960 | |||||||
chr5:69590970 | A | T | 1 | a0001c0001t0031g0098 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.1068+603A>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 16/16 | chr5 | 69590970 | |||||||
chr5:69591032 | A | G | 1 | a0001c0001t0046g0125 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1068+665A>G | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 16/16 | chr5 | 69591032 | |||||||
chr5:69591317 | C | T | 126 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0025 others(123): Show |
128 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(125): Show |
intron_variant | MODIFIER | c.1069-762C>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 16/16 | chr5 | 69591317 | |||||||
chr5:69591346 | G | A | 1 | a0001c0001t0001g0046 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.1069-733G>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 16/16 | chr5 | 69591346 | |||||||
chr5:69591367 | G | A | 5 | a0001c0001t0039g0018 a0001c0001t0040g0017 a0001c0001t0041g0014 others(2): Show |
5 | HG02451.hp2 HG02965.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.1069-712G>A | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 16/16 | chr5 | 69591367 | |||||||
chr5:69591458 | C | CT | 13 | a0001c0001t0016g0096 a0001c0001t0017g0090 a0001c0001t0017g0101 others(10): Show |
13 | HG00099.hp2 HG01175.hp2 HG01192.hp1 others(10): Show |
intron_variant | MODIFIER | c.1069-606dupT | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr5 | 69591458 | ||||||
chr5:69591458 | CT | C | 7 | a0001c0001t0001g0025 a0001c0001t0001g0032 a0001c0001t0040g0017 others(4): Show |
7 | HG01074.hp1 HG02818.hp1 HG02965.hp2 others(4): Show |
intron_variant | MODIFIER | c.1069-606delT | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr5 | 69591458 | ||||||
chr5:69591462 | T | C | 8 | a0001c0001t0045g0036 a0001c0001t0046g0125 a0002c0003t0006g0013 others(5): Show |
9 | HG01081.hp2 HG01258.hp2 HG01928.hp1 others(6): Show |
intron_variant | MODIFIER | c.1069-617T>C | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 16/16 | chr5 | 69591462 | |||||||
chr5:69591752 | G | T | 1 | a0001c0001t0037g0085 | 1 | NA19087.hp2 | intron_variant | MODIFIER | c.1069-327G>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 16/16 | chr5 | 69591752 | |||||||
chr5:69591753 | T | C | 1 | a0001c0001t0037g0085 | 1 | NA19087.hp2 | intron_variant | MODIFIER | c.1069-326T>C | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 16/16 | chr5 | 69591753 | |||||||
chr5:69591754 | C | T | 1 | a0001c0001t0037g0085 | 1 | NA19087.hp2 | intron_variant | MODIFIER | c.1069-325C>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 16/16 | chr5 | 69591754 | |||||||
chr5:69591776 | C | T | 8 | a0001c0001t0045g0036 a0001c0001t0046g0125 a0002c0003t0006g0013 others(5): Show |
9 | HG01081.hp2 HG01258.hp2 HG01928.hp1 others(6): Show |
intron_variant | MODIFIER | c.1069-303C>T | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 16/16 | chr5 | 69591776 | |||||||
chr5:69591844 | A | C | 1 | a0001c0001t0069g0146 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.1069-235A>C | GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 16/16 | chr5 | 69591844 |