Item | Value |
---|---|
geneid | 441317 |
ensemblid | ENSG00000285975.1 |
hgncid | 32255 |
symbol | FAM90A7 |
name | family with sequence similarity 90 member A7 |
refseq_nuc | NM_001397387.1 |
refseq_prot | NP_001384316.1 |
ensembl_nuc | ENST00000650288.1 |
ensembl_prot | ENSP00000497076.1 |
mane_status | MANE Select |
chr | chr8 |
start | 7556700 |
end | 7559712 |
strand | - |
ver | v1.2 |
region | chr8:7556700-7559712 |
region5000 | chr8:7551700-7564712 |
regionname0 | FAM90A7_chr8_7556700_7559712 |
regionname5000 | FAM90A7_chr8_7551700_7564712 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 0/0 | 464 | 2 | 0 | 0 | 0 | 0 | 2 | 0 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | MMARR others(459): Show |
chr8 | 7551700 | 7564712 |
a0002 | 0/0 | 464 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | MMARR others(459): Show |
chr8 | 7551700 | 7564712 |
a0003 | 0/0 | 464 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | MMARR others(459): Show |
chr8 | 7551700 | 7564712 |
a0004 | 0/0 | 464 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | MMARR others(459): Show |
chr8 | 7551700 | 7564712 |
a0005 | 0/0 | 464 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | MMARR others(459): Show |
chr8 | 7551700 | 7564712 |
a0006 | 0/0 | 464 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | MMARR others(459): Show |
chr8 | 7551700 | 7564712 |
a0007 | 0/0 | 464 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | MMARR others(459): Show |
chr8 | 7551700 | 7564712 |
a0008 | 0/0 | 464 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | MMARR others(459): Show |
chr8 | 7551700 | 7564712 |
a0009 | 0/0 | 464 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | MMARR others(459): Show |
chr8 | 7551700 | 7564712 |
a0010 | 0/0 | 464 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | MMARR others(459): Show |
chr8 | 7551700 | 7564712 |
a0011 | 0/0 | 464 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | MMARR others(459): Show |
chr8 | 7551700 | 7564712 |
a0012 | 0/0 | 464 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | MMARR others(459): Show |
chr8 | 7551700 | 7564712 |
a0013 | 0/0 | 464 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | MMARR others(459): Show |
chr8 | 7551700 | 7564712 |
a0014 | 0/0 | 464 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | MMARR others(459): Show |
chr8 | 7551700 | 7564712 |
a0015 | 0/0 | 5 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | MEAPG | chr8 | 7551700 | 7564712 |
a0016 | 0/0 | 464 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | MMARR others(459): Show |
chr8 | 7551700 | 7564712 |
a0017 | 0/0 | 464 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | MMARR others(459): Show |
chr8 | 7551700 | 7564712 |
achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 0/0 | 1392 | 2 | 0 | 0 | 0 | 0 | 2 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | ATGAT others(1387): Show |
chr8 | 7551700 | 7564712 | ||
a0002c0010 | 0/0 | 1392 | 1 | 0 | 0 | 0 | 1 | 0 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | ATGAT others(1387): Show |
chr8 | 7551700 | 7564712 | ||
a0003c0006 | 0/0 | 1392 | 1 | 0 | 0 | 0 | 1 | 0 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | ATGAT others(1387): Show |
chr8 | 7551700 | 7564712 | ||
a0004c0011 | 0/0 | 1392 | 1 | 1 | 0 | 0 | 0 | 0 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | ATGAT others(1387): Show |
chr8 | 7551700 | 7564712 | ||
a0005c0015 | 0/0 | 1392 | 1 | 1 | 0 | 0 | 0 | 0 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | ATGAT others(1387): Show |
chr8 | 7551700 | 7564712 | ||
a0006c0008 | 0/0 | 1392 | 1 | 1 | 0 | 0 | 0 | 0 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | ATGAT others(1387): Show |
chr8 | 7551700 | 7564712 | ||
a0007c0002 | 0/0 | 1392 | 1 | 1 | 0 | 0 | 0 | 0 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | ATGAT others(1387): Show |
chr8 | 7551700 | 7564712 | ||
a0008c0005 | 0/0 | 1392 | 1 | 0 | 0 | 1 | 0 | 0 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | ATGAT others(1387): Show |
chr8 | 7551700 | 7564712 | ||
a0009c0009 | 0/0 | 1392 | 1 | 0 | 0 | 1 | 0 | 0 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | ATGAT others(1387): Show |
chr8 | 7551700 | 7564712 | ||
a0010c0003 | 0/0 | 1392 | 1 | 0 | 0 | 1 | 0 | 0 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | ATGAT others(1387): Show |
chr8 | 7551700 | 7564712 | ||
a0011c0004 | 0/0 | 1392 | 1 | 0 | 0 | 1 | 0 | 0 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | ATGAT others(1387): Show |
chr8 | 7551700 | 7564712 | ||
a0012c0013 | 0/0 | 1392 | 1 | 1 | 0 | 0 | 0 | 0 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | ATGAT others(1387): Show |
chr8 | 7551700 | 7564712 | ||
a0013c0016 | 0/0 | 1392 | 1 | 1 | 0 | 0 | 0 | 0 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | ATGAT others(1387): Show |
chr8 | 7551700 | 7564712 | ||
a0014c0012 | 0/0 | 1392 | 1 | 1 | 0 | 0 | 0 | 0 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | ATGAT others(1387): Show |
chr8 | 7551700 | 7564712 | ||
a0015c0017 | 0/0 | 1175 | 1 | 1 | 0 | 0 | 0 | 0 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | TGGGG others(1170): Show |
chr8 | 7551700 | 7564712 | ||
a0016c0007 | 0/0 | 1392 | 1 | 1 | 0 | 0 | 0 | 0 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | ATGAT others(1387): Show |
chr8 | 7551700 | 7564712 | ||
a0017c0014 | 0/0 | 1392 | 1 | 1 | 0 | 0 | 0 | 0 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | ATGAT others(1387): Show |
chr8 | 7551700 | 7564712 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 0/0 | 1395 | 2 | 0 | 0 | 0 | 0 | 2 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | ATGAT others(1390): Show |
chr8 | 7551700 | 7564712 |
a0002c0010t0001 | 0/0 | 1395 | 1 | 0 | 0 | 0 | 1 | 0 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | ATGAT others(1390): Show |
chr8 | 7551700 | 7564712 |
a0003c0006t0001 | 0/0 | 1395 | 1 | 0 | 0 | 0 | 1 | 0 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | ATGAT others(1390): Show |
chr8 | 7551700 | 7564712 |
a0004c0011t0001 | 0/0 | 1395 | 1 | 1 | 0 | 0 | 0 | 0 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | ATGAT others(1390): Show |
chr8 | 7551700 | 7564712 |
a0005c0015t0001 | 0/0 | 1395 | 1 | 1 | 0 | 0 | 0 | 0 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | ATGAT others(1390): Show |
chr8 | 7551700 | 7564712 |
a0006c0008t0001 | 0/0 | 1395 | 1 | 1 | 0 | 0 | 0 | 0 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | ATGAT others(1390): Show |
chr8 | 7551700 | 7564712 |
a0007c0002t0001 | 0/0 | 1395 | 1 | 1 | 0 | 0 | 0 | 0 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | ATGAT others(1390): Show |
chr8 | 7551700 | 7564712 |
a0008c0005t0001 | 0/0 | 1395 | 1 | 0 | 0 | 1 | 0 | 0 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | ATGAT others(1390): Show |
chr8 | 7551700 | 7564712 |
a0009c0009t0001 | 0/0 | 1395 | 1 | 0 | 0 | 1 | 0 | 0 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | ATGAT others(1390): Show |
chr8 | 7551700 | 7564712 |
a0010c0003t0001 | 0/0 | 1395 | 1 | 0 | 0 | 1 | 0 | 0 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | ATGAT others(1390): Show |
chr8 | 7551700 | 7564712 |
a0011c0004t0001 | 0/0 | 1395 | 1 | 0 | 0 | 1 | 0 | 0 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | ATGAT others(1390): Show |
chr8 | 7551700 | 7564712 |
a0012c0013t0001 | 0/0 | 1395 | 1 | 1 | 0 | 0 | 0 | 0 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | ATGAT others(1390): Show |
chr8 | 7551700 | 7564712 |
a0013c0016t0001 | 0/0 | 1395 | 1 | 1 | 0 | 0 | 0 | 0 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | ATGAT others(1390): Show |
chr8 | 7551700 | 7564712 |
a0014c0012t0001 | 0/0 | 1395 | 1 | 1 | 0 | 0 | 0 | 0 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | ATGAT others(1390): Show |
chr8 | 7551700 | 7564712 |
a0015c0017t0001 | 0/0 | 1178 | 1 | 1 | 0 | 0 | 0 | 0 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | TGGGG others(1173): Show |
chr8 | 7551700 | 7564712 |
a0016c0007t0001 | 0/0 | 1395 | 1 | 1 | 0 | 0 | 0 | 0 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | ATGAT others(1390): Show |
chr8 | 7551700 | 7564712 |
a0017c0014t0001 | 0/0 | 1395 | 1 | 1 | 0 | 0 | 0 | 0 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | ATGAT others(1390): Show |
chr8 | 7551700 | 7564712 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0001 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | chr8 | 7551700 | 7564712 |
a0002c0010t0001g0009 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | chr8 | 7551700 | 7564712 |
a0003c0006t0001g0006 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | chr8 | 7551700 | 7564712 |
a0004c0011t0001g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | chr8 | 7551700 | 7564712 |
a0005c0015t0001g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | chr8 | 7551700 | 7564712 |
a0006c0008t0001g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | chr8 | 7551700 | 7564712 |
a0007c0002t0001g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | chr8 | 7551700 | 7564712 |
a0008c0005t0001g0005 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | chr8 | 7551700 | 7564712 |
a0009c0009t0001g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | chr8 | 7551700 | 7564712 |
a0010c0003t0001g0004 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | chr8 | 7551700 | 7564712 |
a0011c0004t0001g0002 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | chr8 | 7551700 | 7564712 |
a0012c0013t0001g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | chr8 | 7551700 | 7564712 |
a0013c0016t0001g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | chr8 | 7551700 | 7564712 |
a0014c0012t0001g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | chr8 | 7551700 | 7564712 |
a0015c0017t0001g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | chr8 | 7551700 | 7564712 |
a0016c0007t0001g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | chr8 | 7551700 | 7564712 |
a0017c0014t0001g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM90A7_chr8_7551700_7564712 | FAM90A7 | chr8 | 7551700 | 7564712 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG01517 | hp1 | a0002 | c0010 | t0001 | g0009 | EUR | IBS | FAM90A7_chr8_7551700_7564712 | FAM90A7 | chr8 | 7551700 | 7564712 |
HG01517 | hp2 | a0003 | c0006 | t0001 | g0006 | EUR | IBS | FAM90A7_chr8_7551700_7564712 | FAM90A7 | chr8 | 7551700 | 7564712 |
HG02738 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | FAM90A7_chr8_7551700_7564712 | FAM90A7 | chr8 | 7551700 | 7564712 |
HG02738 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | FAM90A7_chr8_7551700_7564712 | FAM90A7 | chr8 | 7551700 | 7564712 |
HG03195 | hp1 | a0004 | c0011 | t0001 | g0011 | AFR | ESN | FAM90A7_chr8_7551700_7564712 | FAM90A7 | chr8 | 7551700 | 7564712 |
HG03195 | hp2 | a0005 | c0015 | t0001 | g0014 | AFR | ESN | FAM90A7_chr8_7551700_7564712 | FAM90A7 | chr8 | 7551700 | 7564712 |
HG03486 | hp1 | a0006 | c0008 | t0001 | g0010 | AFR | MSL | FAM90A7_chr8_7551700_7564712 | FAM90A7 | chr8 | 7551700 | 7564712 |
HG03486 | hp2 | a0007 | c0002 | t0001 | g0003 | AFR | MSL | FAM90A7_chr8_7551700_7564712 | FAM90A7 | chr8 | 7551700 | 7564712 |
NA18952 | hp1 | a0008 | c0005 | t0001 | g0005 | EAS | JPT | FAM90A7_chr8_7551700_7564712 | FAM90A7 | chr8 | 7551700 | 7564712 |
NA18952 | hp2 | a0009 | c0009 | t0001 | g0008 | EAS | JPT | FAM90A7_chr8_7551700_7564712 | FAM90A7 | chr8 | 7551700 | 7564712 |
NA18998 | hp1 | a0010 | c0003 | t0001 | g0004 | EAS | JPT | FAM90A7_chr8_7551700_7564712 | FAM90A7 | chr8 | 7551700 | 7564712 |
NA18998 | hp2 | a0011 | c0004 | t0001 | g0002 | EAS | JPT | FAM90A7_chr8_7551700_7564712 | FAM90A7 | chr8 | 7551700 | 7564712 |
NA19030 | hp1 | a0012 | c0013 | t0001 | g0016 | AFR | LWK | FAM90A7_chr8_7551700_7564712 | FAM90A7 | chr8 | 7551700 | 7564712 |
NA19030 | hp2 | a0013 | c0016 | t0001 | g0013 | AFR | LWK | FAM90A7_chr8_7551700_7564712 | FAM90A7 | chr8 | 7551700 | 7564712 |
NA19043 | hp1 | a0014 | c0012 | t0001 | g0015 | AFR | LWK | FAM90A7_chr8_7551700_7564712 | FAM90A7 | chr8 | 7551700 | 7564712 |
NA19043 | hp2 | a0015 | c0017 | t0001 | g0017 | AFR | LWK | FAM90A7_chr8_7551700_7564712 | FAM90A7 | chr8 | 7551700 | 7564712 |
NA20129 | hp1 | a0016 | c0007 | t0001 | g0007 | AFR | ASW | FAM90A7_chr8_7551700_7564712 | FAM90A7 | chr8 | 7551700 | 7564712 |
NA20129 | hp2 | a0017 | c0014 | t0001 | g0012 | AFR | ASW | FAM90A7_chr8_7551700_7564712 | FAM90A7 | chr8 | 7551700 | 7564712 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr8:7556721 | G | C | 2 | a0001 a0002 |
3 | HG01517.hp1 HG02738.hp1 HG02738.hp2 |
missense_variant | MODERATE | c.1374C>G | p.Asp458Glu | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 4/4 | 1374/1395 | 1374/1395 | 458/464 | chr8 | 7556721 | |||
chr8:7556788 | G | C | 1 | a0005 | 1 | HG03195.hp2 | missense_variant | MODERATE | c.1307C>G | p.Ala436Gly | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 4/4 | 1307/1395 | 1307/1395 | 436/464 | chr8 | 7556788 | |||
chr8:7556866 | G | T | 2 | a0008 a0011 |
2 | NA18952.hp1 NA18998.hp2 |
missense_variant | MODERATE | c.1229C>A | p.Ala410Asp | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 4/4 | 1229/1395 | 1229/1395 | 410/464 | chr8 | 7556866 | |||
chr8:7556942 | C | T | 3 | a0008 a0011 a0017 |
3 | NA18952.hp1 NA18998.hp2 NA20129.hp2 |
missense_variant | MODERATE | c.1153G>A | p.Gly385Ser | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 4/4 | 1153/1395 | 1153/1395 | 385/464 | chr8 | 7556942 | |||
chr8:7556951 | G | A | 11 | a0001 a0002 a0003 others(8): Show |
12 | HG01517.hp1 HG01517.hp2 HG02738.hp1 others(9): Show |
missense_variant | MODERATE | c.1144C>T | p.Pro382Ser | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 4/4 | 1144/1395 | 1144/1395 | 382/464 | chr8 | 7556951 | |||
chr8:7556984 | G | T | 1 | a0011 | 1 | NA18998.hp2 | missense_variant | MODERATE | c.1111C>A | p.Pro371Thr | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 4/4 | 1111/1395 | 1111/1395 | 371/464 | chr8 | 7556984 | |||
chr8:7556995 | G | C | 14 | a0001 a0002 a0003 others(11): Show |
15 | HG01517.hp1 HG01517.hp2 HG02738.hp1 others(12): Show |
missense_variant | MODERATE | c.1100C>G | p.Thr367Arg | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 4/4 | 1100/1395 | 1100/1395 | 367/464 | chr8 | 7556995 | |||
chr8:7557035 | C | T | 1 | a0005 | 1 | HG03195.hp2 | missense_variant | MODERATE | c.1060G>A | p.Ala354Thr | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 4/4 | 1060/1395 | 1060/1395 | 354/464 | chr8 | 7557035 | |||
chr8:7557049 | C | T | 1 | a0005 | 1 | HG03195.hp2 | missense_variant | MODERATE | c.1046G>A | p.Gly349Asp | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 4/4 | 1046/1395 | 1046/1395 | 349/464 | chr8 | 7557049 | |||
chr8:7557083 | T | A | 1 | a0008 | 1 | NA18952.hp1 | missense_variant | MODERATE | c.1012A>T | p.Thr338Ser | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 4/4 | 1012/1395 | 1012/1395 | 338/464 | chr8 | 7557083 | |||
chr8:7557088 | G | T | 1 | a0011 | 1 | NA18998.hp2 | missense_variant | MODERATE | c.1007C>A | p.Ala336Asp | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 4/4 | 1007/1395 | 1007/1395 | 336/464 | chr8 | 7557088 | |||
chr8:7557116 | C | T | 1 | a0003 | 1 | HG01517.hp2 | missense_variant | MODERATE | c.979G>A | p.Ala327Thr | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 4/4 | 979/1395 | 979/1395 | 327/464 | chr8 | 7557116 | |||
chr8:7557119 | G | C | 14 | a0001 a0002 a0003 others(11): Show |
15 | HG01517.hp1 HG01517.hp2 HG02738.hp1 others(12): Show |
missense_variant | MODERATE | c.976C>G | p.Arg326Gly | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 4/4 | 976/1395 | 976/1395 | 326/464 | chr8 | 7557119 | |||
chr8:7557220 | C | T | 2 | a0015 a0016 |
2 | NA19043.hp2 NA20129.hp1 |
missense_variant | MODERATE | c.875G>A | p.Arg292Lys | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 4/4 | 875/1395 | 875/1395 | 292/464 | chr8 | 7557220 | |||
chr8:7557236 | C | G | 1 | a0013 | 1 | NA19030.hp2 | missense_variant | MODERATE | c.859G>C | p.Gly287Arg | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 4/4 | 859/1395 | 859/1395 | 287/464 | chr8 | 7557236 | |||
chr8:7557296 | A | G | 9 | a0001 a0002 a0004 others(6): Show |
10 | HG01517.hp1 HG02738.hp1 HG02738.hp2 others(7): Show |
missense_variant | MODERATE | c.799T>C | p.Ser267Pro | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 4/4 | 799/1395 | 799/1395 | 267/464 | chr8 | 7557296 | |||
chr8:7557334 | A | G | 14 | a0001 a0002 a0003 others(11): Show |
15 | HG01517.hp1 HG01517.hp2 HG02738.hp1 others(12): Show |
missense_variant | MODERATE | c.761T>C | p.Val254Ala | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 4/4 | 761/1395 | 761/1395 | 254/464 | chr8 | 7557334 | |||
chr8:7557335 | C | A | 5 | a0001 a0002 a0004 others(2): Show |
6 | HG01517.hp1 HG02738.hp1 HG02738.hp2 others(3): Show |
missense_variant | MODERATE | c.760G>T | p.Val254Phe | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 4/4 | 760/1395 | 760/1395 | 254/464 | chr8 | 7557335 | |||
chr8:7557337 | G | A | 1 | a0012 | 1 | NA19030.hp1 | missense_variant | MODERATE | c.758C>T | p.Ala253Val | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 4/4 | 758/1395 | 758/1395 | 253/464 | chr8 | 7557337 | |||
chr8:7557382 | C | T | 2 | a0015 a0016 |
2 | NA19043.hp2 NA20129.hp1 |
missense_variant | MODERATE | c.713G>A | p.Arg238Gln | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 4/4 | 713/1395 | 713/1395 | 238/464 | chr8 | 7557382 | |||
chr8:7557401 | T | G | 13 | a0001 a0002 a0003 others(10): Show |
14 | HG01517.hp1 HG01517.hp2 HG02738.hp1 others(11): Show |
missense_variant | MODERATE | c.694A>C | p.Ser232Arg | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 4/4 | 694/1395 | 694/1395 | 232/464 | chr8 | 7557401 | |||
chr8:7557421 | A | T | 2 | a0015 a0016 |
2 | NA19043.hp2 NA20129.hp1 |
missense_variant | MODERATE | c.674T>A | p.Val225Glu | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 4/4 | 674/1395 | 674/1395 | 225/464 | chr8 | 7557421 | |||
chr8:7557436 | G | C | 12 | a0001 a0002 a0003 others(9): Show |
13 | HG01517.hp1 HG01517.hp2 HG02738.hp1 others(10): Show |
missense_variant | MODERATE | c.659C>G | p.Pro220Arg | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 4/4 | 659/1395 | 659/1395 | 220/464 | chr8 | 7557436 | |||
chr8:7557452 | A | C | 14 | a0001 a0002 a0003 others(11): Show |
15 | HG01517.hp1 HG01517.hp2 HG02738.hp1 others(12): Show |
missense_variant | MODERATE | c.643T>G | p.Phe215Val | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 4/4 | 643/1395 | 643/1395 | 215/464 | chr8 | 7557452 | |||
chr8:7557465 | G | C | 14 | a0001 a0002 a0003 others(11): Show |
15 | HG01517.hp1 HG01517.hp2 HG02738.hp1 others(12): Show |
missense_variant | MODERATE | c.630C>G | p.Ile210Met | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 4/4 | 630/1395 | 630/1395 | 210/464 | chr8 | 7557465 | |||
chr8:7557530 | C | T | 2 | a0015 a0016 |
2 | NA19043.hp2 NA20129.hp1 |
missense_variant | MODERATE | c.565G>A | p.Ala189Thr | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 4/4 | 565/1395 | 565/1395 | 189/464 | chr8 | 7557530 | |||
chr8:7557580 | T | G | 1 | a0017 | 1 | NA20129.hp2 | missense_variant | MODERATE | c.515A>C | p.Glu172Ala | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 4/4 | 515/1395 | 515/1395 | 172/464 | chr8 | 7557580 | |||
chr8:7557607 | G | T | 1 | a0007 | 1 | HG03486.hp2 | missense_variant | MODERATE | c.488C>A | p.Pro163His | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 4/4 | 488/1395 | 488/1395 | 163/464 | chr8 | 7557607 | |||
chr8:7557614 | C | A | 14 | a0001 a0002 a0003 others(11): Show |
15 | HG01517.hp1 HG01517.hp2 HG02738.hp1 others(12): Show |
missense_variant | MODERATE | c.481G>T | p.Val161Leu | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 4/4 | 481/1395 | 481/1395 | 161/464 | chr8 | 7557614 | |||
chr8:7558336 | G | A | 14 | a0001 a0002 a0003 others(11): Show |
15 | HG01517.hp1 HG01517.hp2 HG02738.hp1 others(12): Show |
missense_variant | MODERATE | c.424C>T | p.His142Tyr | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 3/4 | 424/1395 | 424/1395 | 142/464 | chr8 | 7558336 | |||
chr8:7558337 | C | A | 14 | a0001 a0002 a0003 others(11): Show |
15 | HG01517.hp1 HG01517.hp2 HG02738.hp1 others(12): Show |
missense_variant | MODERATE | c.423G>T | p.Glu141Asp | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 3/4 | 423/1395 | 423/1395 | 141/464 | chr8 | 7558337 | |||
chr8:7558415 | G | C | 16 | a0001 a0002 a0003 others(13): Show |
17 | HG01517.hp1 HG01517.hp2 HG02738.hp1 others(14): Show |
missense_variant | MODERATE | c.345C>G | p.Asn115Lys | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 3/4 | 345/1395 | 345/1395 | 115/464 | chr8 | 7558415 | |||
chr8:7558899 | G | T | 1 | a0004 | 1 | HG03195.hp1 | missense_variant | MODERATE | c.319C>A | p.Pro107Thr | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 2/4 | 319/1395 | 319/1395 | 107/464 | chr8 | 7558899 | |||
chr8:7558952 | G | C | 8 | a0001 a0003 a0004 others(5): Show |
9 | HG01517.hp2 HG02738.hp1 HG02738.hp2 others(6): Show |
missense_variant | MODERATE | c.266C>G | p.Ala89Gly | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 2/4 | 266/1395 | 266/1395 | 89/464 | chr8 | 7558952 | |||
chr8:7558965 | A | G | 6 | a0001 a0003 a0007 others(3): Show |
7 | HG01517.hp2 HG02738.hp1 HG02738.hp2 others(4): Show |
missense_variant | MODERATE | c.253T>C | p.Trp85Arg | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 2/4 | 253/1395 | 253/1395 | 85/464 | chr8 | 7558965 | |||
chr8:7559000 | AAGGTCGC others(5705): Show |
A | 1 | a0015 | 1 | NA19043.hp2 | exon_loss_variant | HIGH | c.-5000_217del | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 1/4 | 217/1395 | chr8 | 7559000 | ||||||
chr8:7559619 | A | C | 13 | a0001 a0002 a0003 others(10): Show |
14 | HG01517.hp1 HG01517.hp2 HG02738.hp1 others(11): Show |
missense_variant | MODERATE | c.94T>G | p.Ser32Ala | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 1/4 | 94/1395 | 94/1395 | 32/464 | chr8 | 7559619 | |||
chr8:7559633 | G | C | 1 | a0016 | 1 | NA20129.hp1 | missense_variant | MODERATE | c.80C>G | p.Pro27Arg | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 1/4 | 80/1395 | 80/1395 | 27/464 | chr8 | 7559633 | |||
chr8:7559636 | G | A | 1 | a0017 | 1 | NA20129.hp2 | missense_variant | MODERATE | c.77C>T | p.Ala26Val | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 1/4 | 77/1395 | 77/1395 | 26/464 | chr8 | 7559636 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr8:7556826 | G | A | 9 | a0001c0001 a0002c0010 a0003c0006 others(6): Show |
10 | HG01517.hp1 HG01517.hp2 HG02738.hp1 others(7): Show |
synonymous_variant | LOW | c.1269C>T | p.Phe423Phe | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 4/4 | 1269/1395 | 1269/1395 | 423/464 | chr8 | 7556826 | |||
chr8:7556865 | G | C | 14 | a0001c0001 a0002c0010 a0003c0006 others(11): Show |
15 | HG01517.hp1 HG01517.hp2 HG02738.hp1 others(12): Show |
synonymous_variant | LOW | c.1230C>G | p.Ala410Ala | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 4/4 | 1230/1395 | 1230/1395 | 410/464 | chr8 | 7556865 | |||
chr8:7556982 | A | G | 1 | a0010c0003 | 1 | NA18998.hp1 | synonymous_variant | LOW | c.1113T>C | p.Pro371Pro | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 4/4 | 1113/1395 | 1113/1395 | 371/464 | chr8 | 7556982 | |||
chr8:7557012 | C | G | 1 | a0008c0005 | 1 | NA18952.hp1 | synonymous_variant | LOW | c.1083G>C | p.Arg361Arg | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 4/4 | 1083/1395 | 1083/1395 | 361/464 | chr8 | 7557012 | |||
chr8:7557078 | T | C | 1 | a0009c0009 | 1 | NA18952.hp2 | synonymous_variant | LOW | c.1017A>G | p.Glu339Glu | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 4/4 | 1017/1395 | 1017/1395 | 339/464 | chr8 | 7557078 | |||
chr8:7557093 | C | T | 1 | a0005c0015 | 1 | HG03195.hp2 | synonymous_variant | LOW | c.1002G>A | p.Pro334Pro | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 4/4 | 1002/1395 | 1002/1395 | 334/464 | chr8 | 7557093 | |||
chr8:7557396 | A | G | 14 | a0001c0001 a0002c0010 a0003c0006 others(11): Show |
15 | HG01517.hp1 HG01517.hp2 HG02738.hp1 others(12): Show |
synonymous_variant | LOW | c.699T>C | p.Pro233Pro | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 4/4 | 699/1395 | 699/1395 | 233/464 | chr8 | 7557396 | |||
chr8:7557483 | T | A | 12 | a0001c0001 a0002c0010 a0003c0006 others(9): Show |
13 | HG01517.hp1 HG01517.hp2 HG02738.hp1 others(10): Show |
synonymous_variant | LOW | c.612A>T | p.Thr204Thr | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 4/4 | 612/1395 | 612/1395 | 204/464 | chr8 | 7557483 | |||
chr8:7557582 | G | A | 2 | a0015c0017 a0016c0007 |
2 | NA19043.hp2 NA20129.hp1 |
synonymous_variant | LOW | c.513C>T | p.Thr171Thr | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 4/4 | 513/1395 | 513/1395 | 171/464 | chr8 | 7557582 | |||
chr8:7557585 | A | T | 13 | a0001c0001 a0002c0010 a0003c0006 others(10): Show |
14 | HG01517.hp1 HG01517.hp2 HG02738.hp1 others(11): Show |
synonymous_variant | LOW | c.510T>A | p.Ala170Ala | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 4/4 | 510/1395 | 510/1395 | 170/464 | chr8 | 7557585 | |||
chr8:7557588 | T | G | 13 | a0001c0001 a0002c0010 a0003c0006 others(10): Show |
14 | HG01517.hp1 HG01517.hp2 HG02738.hp1 others(11): Show |
synonymous_variant | LOW | c.507A>C | p.Ser169Ser | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 4/4 | 507/1395 | 507/1395 | 169/464 | chr8 | 7557588 | |||
chr8:7558340 | G | A | 15 | a0001c0001 a0002c0010 a0003c0006 others(12): Show |
16 | HG01517.hp1 HG01517.hp2 HG02738.hp1 others(13): Show |
synonymous_variant | LOW | c.420C>T | p.Ser140Ser | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 3/4 | 420/1395 | 420/1395 | 140/464 | chr8 | 7558340 | |||
chr8:7558367 | C | T | 2 | a0015c0017 a0016c0007 |
2 | NA19043.hp2 NA20129.hp1 |
synonymous_variant | LOW | c.393G>A | p.Pro131Pro | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 3/4 | 393/1395 | 393/1395 | 131/464 | chr8 | 7558367 |
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 |
---|
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr8:7557698 | A | T | 14 | a0001c0001t0001g0001 a0002c0010t0001g0009 a0003c0006t0001g0006 others(11): Show |
15 | HG01517.hp1 HG01517.hp2 HG02738.hp1 others(12): Show |
intron_variant | MODIFIER | c.433-36T>A | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 3/3 | chr8 | 7557698 | |||||||
chr8:7557700 | G | A | 14 | a0001c0001t0001g0001 a0002c0010t0001g0009 a0003c0006t0001g0006 others(11): Show |
15 | HG01517.hp1 HG01517.hp2 HG02738.hp1 others(12): Show |
intron_variant | MODIFIER | c.433-38C>T | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 3/3 | chr8 | 7557700 | |||||||
chr8:7557725 | A | G | 14 | a0001c0001t0001g0001 a0002c0010t0001g0009 a0003c0006t0001g0006 others(11): Show |
15 | HG01517.hp1 HG01517.hp2 HG02738.hp1 others(12): Show |
intron_variant | MODIFIER | c.433-63T>C | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 3/3 | chr8 | 7557725 | |||||||
chr8:7557728 | T | C | 14 | a0001c0001t0001g0001 a0002c0010t0001g0009 a0003c0006t0001g0006 others(11): Show |
15 | HG01517.hp1 HG01517.hp2 HG02738.hp1 others(12): Show |
intron_variant | MODIFIER | c.433-66A>G | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 3/3 | chr8 | 7557728 | |||||||
chr8:7557803 | AT | A | 14 | a0001c0001t0001g0001 a0002c0010t0001g0009 a0003c0006t0001g0006 others(11): Show |
15 | HG01517.hp1 HG01517.hp2 HG02738.hp1 others(12): Show |
intron_variant | MODIFIER | c.433-142delA | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 3/3 | chr8 | 7557803 | |||||||
chr8:7557845 | G | A | 14 | a0001c0001t0001g0001 a0002c0010t0001g0009 a0003c0006t0001g0006 others(11): Show |
15 | HG01517.hp1 HG01517.hp2 HG02738.hp1 others(12): Show |
intron_variant | MODIFIER | c.433-183C>T | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 3/3 | chr8 | 7557845 | |||||||
chr8:7557904 | T | C | 1 | a0004c0011t0001g0011 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.433-242A>G | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 3/3 | chr8 | 7557904 | |||||||
chr8:7557974 | G | A | 14 | a0001c0001t0001g0001 a0002c0010t0001g0009 a0003c0006t0001g0006 others(11): Show |
15 | HG01517.hp1 HG01517.hp2 HG02738.hp1 others(12): Show |
intron_variant | MODIFIER | c.433-312C>T | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 3/3 | chr8 | 7557974 | |||||||
chr8:7557985 | G | C | 14 | a0001c0001t0001g0001 a0002c0010t0001g0009 a0003c0006t0001g0006 others(11): Show |
15 | HG01517.hp1 HG01517.hp2 HG02738.hp1 others(12): Show |
intron_variant | MODIFIER | c.433-323C>G | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 3/3 | chr8 | 7557985 | |||||||
chr8:7558026 | A | C | 9 | a0004c0011t0001g0011 a0005c0015t0001g0014 a0007c0002t0001g0003 others(6): Show |
9 | HG03195.hp1 HG03195.hp2 HG03486.hp2 others(6): Show |
intron_variant | MODIFIER | c.432+302T>G | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 3/3 | chr8 | 7558026 | |||||||
chr8:7558040 | A | C | 14 | a0001c0001t0001g0001 a0002c0010t0001g0009 a0003c0006t0001g0006 others(11): Show |
15 | HG01517.hp1 HG01517.hp2 HG02738.hp1 others(12): Show |
intron_variant | MODIFIER | c.432+288T>G | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 3/3 | chr8 | 7558040 | |||||||
chr8:7558137 | C | A | 14 | a0001c0001t0001g0001 a0002c0010t0001g0009 a0003c0006t0001g0006 others(11): Show |
15 | HG01517.hp1 HG01517.hp2 HG02738.hp1 others(12): Show |
intron_variant | MODIFIER | c.432+191G>T | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 3/3 | chr8 | 7558137 | |||||||
chr8:7558140 | A | G | 1 | a0013c0016t0001g0013 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.432+188T>C | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 3/3 | chr8 | 7558140 | |||||||
chr8:7558154 | C | G | 14 | a0001c0001t0001g0001 a0002c0010t0001g0009 a0003c0006t0001g0006 others(11): Show |
15 | HG01517.hp1 HG01517.hp2 HG02738.hp1 others(12): Show |
intron_variant | MODIFIER | c.432+174G>C | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 3/3 | chr8 | 7558154 | |||||||
chr8:7558196 | T | C | 14 | a0001c0001t0001g0001 a0002c0010t0001g0009 a0003c0006t0001g0006 others(11): Show |
15 | HG01517.hp1 HG01517.hp2 HG02738.hp1 others(12): Show |
intron_variant | MODIFIER | c.432+132A>G | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 3/3 | chr8 | 7558196 | |||||||
chr8:7558251 | G | A | 1 | a0006c0008t0001g0010 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.432+77C>T | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 3/3 | chr8 | 7558251 | |||||||
chr8:7558301 | G | A | 14 | a0001c0001t0001g0001 a0002c0010t0001g0009 a0003c0006t0001g0006 others(11): Show |
15 | HG01517.hp1 HG01517.hp2 HG02738.hp1 others(12): Show |
intron_variant | MODIFIER | c.432+27C>T | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 3/3 | chr8 | 7558301 | |||||||
chr8:7558326 | A | G | 14 | a0001c0001t0001g0001 a0002c0010t0001g0009 a0003c0006t0001g0006 others(11): Show |
15 | HG01517.hp1 HG01517.hp2 HG02738.hp1 others(12): Show |
splice_donor_variant&intron_variant | HIGH | c.432+2T>C | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 3/3 | chr8 | 7558326 | |||||||
chr8:7558450 | A | G | 14 | a0001c0001t0001g0001 a0002c0010t0001g0009 a0003c0006t0001g0006 others(11): Show |
15 | HG01517.hp1 HG01517.hp2 HG02738.hp1 others(12): Show |
intron_variant | MODIFIER | c.324-14T>C | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 2/3 | chr8 | 7558450 | |||||||
chr8:7558461 | G | C | 14 | a0001c0001t0001g0001 a0002c0010t0001g0009 a0003c0006t0001g0006 others(11): Show |
15 | HG01517.hp1 HG01517.hp2 HG02738.hp1 others(12): Show |
intron_variant | MODIFIER | c.324-25C>G | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 2/3 | chr8 | 7558461 | |||||||
chr8:7558524 | G | A | 1 | a0004c0011t0001g0011 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.324-88C>T | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 2/3 | chr8 | 7558524 | |||||||
chr8:7558624 | G | A | 14 | a0001c0001t0001g0001 a0002c0010t0001g0009 a0003c0006t0001g0006 others(11): Show |
15 | HG01517.hp1 HG01517.hp2 HG02738.hp1 others(12): Show |
intron_variant | MODIFIER | c.324-188C>T | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 2/3 | chr8 | 7558624 | |||||||
chr8:7558625 | A | G | 2 | a0001c0001t0001g0001 a0003c0006t0001g0006 |
3 | HG01517.hp2 HG02738.hp1 HG02738.hp2 |
intron_variant | MODIFIER | c.324-189T>C | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 2/3 | chr8 | 7558625 | |||||||
chr8:7558775 | T | G | 2 | a0004c0011t0001g0011 a0005c0015t0001g0014 |
2 | HG03195.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.323+120A>C | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 2/3 | chr8 | 7558775 | |||||||
chr8:7558786 | C | T | 14 | a0001c0001t0001g0001 a0002c0010t0001g0009 a0003c0006t0001g0006 others(11): Show |
15 | HG01517.hp1 HG01517.hp2 HG02738.hp1 others(12): Show |
intron_variant | MODIFIER | c.323+109G>A | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 2/3 | chr8 | 7558786 | |||||||
chr8:7558817 | A | G | 5 | a0004c0011t0001g0011 a0005c0015t0001g0014 a0009c0009t0001g0008 others(2): Show |
5 | HG03195.hp1 HG03195.hp2 NA18952.hp2 others(2): Show |
intron_variant | MODIFIER | c.323+78T>C | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 2/3 | chr8 | 7558817 | |||||||
chr8:7558836 | A | G | 2 | a0001c0001t0001g0001 a0003c0006t0001g0006 |
3 | HG01517.hp2 HG02738.hp1 HG02738.hp2 |
intron_variant | MODIFIER | c.323+59T>C | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 2/3 | chr8 | 7558836 | |||||||
chr8:7558843 | C | G | 14 | a0001c0001t0001g0001 a0002c0010t0001g0009 a0003c0006t0001g0006 others(11): Show |
15 | HG01517.hp1 HG01517.hp2 HG02738.hp1 others(12): Show |
intron_variant | MODIFIER | c.323+52G>C | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 2/3 | chr8 | 7558843 | |||||||
chr8:7558849 | A | G | 1 | a0017c0014t0001g0012 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.323+46T>C | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 2/3 | chr8 | 7558849 | |||||||
chr8:7558856 | A | C | 5 | a0001c0001t0001g0001 a0003c0006t0001g0006 a0015c0017t0001g0017 others(2): Show |
6 | HG01517.hp2 HG02738.hp1 HG02738.hp2 others(3): Show |
intron_variant | MODIFIER | c.323+39T>G | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 2/3 | chr8 | 7558856 | |||||||
chr8:7558858 | C | T | 14 | a0001c0001t0001g0001 a0002c0010t0001g0009 a0003c0006t0001g0006 others(11): Show |
15 | HG01517.hp1 HG01517.hp2 HG02738.hp1 others(12): Show |
intron_variant | MODIFIER | c.323+37G>A | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 2/3 | chr8 | 7558858 | |||||||
chr8:7559098 | T | C | 1 | a0017c0014t0001g0012 | 1 | NA20129.hp2 | splice_region_variant&intron_variant | LOW | c.124-4A>G | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 1/3 | chr8 | 7559098 | |||||||
chr8:7559201 | G | A | 13 | a0001c0001t0001g0001 a0002c0010t0001g0009 a0003c0006t0001g0006 others(10): Show |
14 | HG01517.hp1 HG01517.hp2 HG02738.hp1 others(11): Show |
intron_variant | MODIFIER | c.124-107C>T | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 1/3 | chr8 | 7559201 | |||||||
chr8:7559243 | G | C | 12 | a0001c0001t0001g0001 a0002c0010t0001g0009 a0003c0006t0001g0006 others(9): Show |
13 | HG01517.hp1 HG01517.hp2 HG02738.hp1 others(10): Show |
intron_variant | MODIFIER | c.124-149C>G | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 1/3 | chr8 | 7559243 | |||||||
chr8:7559273 | T | A | 13 | a0001c0001t0001g0001 a0002c0010t0001g0009 a0003c0006t0001g0006 others(10): Show |
14 | HG01517.hp1 HG01517.hp2 HG02738.hp1 others(11): Show |
intron_variant | MODIFIER | c.124-179A>T | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 1/3 | chr8 | 7559273 | |||||||
chr8:7559284 | T | A | 1 | a0010c0003t0001g0004 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.124-190A>T | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 1/3 | chr8 | 7559284 | |||||||
chr8:7559284 | T | G | 15 | a0001c0001t0001g0001 a0002c0010t0001g0009 a0003c0006t0001g0006 others(12): Show |
16 | HG01517.hp1 HG01517.hp2 HG02738.hp1 others(13): Show |
intron_variant | MODIFIER | c.124-190A>C | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 1/3 | chr8 | 7559284 | |||||||
chr8:7559322 | G | C | 1 | a0017c0014t0001g0012 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.124-228C>G | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 1/3 | chr8 | 7559322 | |||||||
chr8:7559359 | G | A | 1 | a0003c0006t0001g0006 | 1 | HG01517.hp2 | intron_variant | MODIFIER | c.123+231C>T | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 1/3 | chr8 | 7559359 | |||||||
chr8:7559373 | G | T | 11 | a0001c0001t0001g0001 a0002c0010t0001g0009 a0004c0011t0001g0011 others(8): Show |
12 | HG01517.hp1 HG02738.hp1 HG02738.hp2 others(9): Show |
intron_variant | MODIFIER | c.123+217C>A | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 1/3 | chr8 | 7559373 | |||||||
chr8:7559444 | A | C | 1 | a0013c0016t0001g0013 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.123+146T>G | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 1/3 | chr8 | 7559444 | |||||||
chr8:7559532 | G | C | 13 | a0001c0001t0001g0001 a0002c0010t0001g0009 a0003c0006t0001g0006 others(10): Show |
14 | HG01517.hp1 HG01517.hp2 HG02738.hp1 others(11): Show |
intron_variant | MODIFIER | c.123+58C>G | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 1/3 | chr8 | 7559532 | |||||||
chr8:7559542 | G | C | 2 | a0001c0001t0001g0001 a0010c0003t0001g0004 |
2 | HG02738.hp1 NA18998.hp1 |
intron_variant | MODIFIER | c.123+48C>G | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 1/3 | chr8 | 7559542 | |||||||
chr8:7559542 | GT | G | 15 | a0001c0001t0001g0001 a0002c0010t0001g0009 a0003c0006t0001g0006 others(12): Show |
15 | HG01517.hp1 HG01517.hp2 HG02738.hp2 others(12): Show |
intron_variant | MODIFIER | c.123+47delA | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 1/3 | chr8 | 7559542 | |||||||
chr8:7559543 | T | G | 2 | a0001c0001t0001g0001 a0010c0003t0001g0004 |
2 | HG02738.hp1 NA18998.hp1 |
intron_variant | MODIFIER | c.123+47A>C | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 1/3 | chr8 | 7559543 | |||||||
chr8:7559583 | G | C | 1 | a0017c0014t0001g0012 | 1 | NA20129.hp2 | splice_region_variant&intron_variant | LOW | c.123+7C>G | FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 1/3 | chr8 | 7559583 |