Item | Value |
---|---|
geneid | 6470 |
ensemblid | ENSG00000176974.22 |
hgncid | 10850 |
symbol | SHMT1 |
name | serine hydroxymethyltransferase 1 |
refseq_nuc | NM_004169.5 |
refseq_prot | NP_004160.3 |
ensembl_nuc | ENST00000316694.8 |
ensembl_prot | ENSP00000318868.3 |
mane_status | MANE Select |
chr | chr17 |
start | 18327873 |
end | 18363550 |
strand | - |
ver | v1.2 |
region | chr17:18327873-18363550 |
region5000 | chr17:18322873-18368550 |
regionname0 | SHMT1_chr17_18327873_18363550 |
regionname5000 | SHMT1_chr17_18322873_18368550 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 1/1 | 483 | 175 | 36 | 35 | 77 | 5 | 20 | 60 | SHMT1_chr17_18322873_18368550 | SHMT1 | MTMPV others(478): Show |
chr17 | 18322873 | 18368550 |
a0002 | 0/0 | 483 | 41 | 10 | 9 | 15 | 3 | 4 | 13 | SHMT1_chr17_18322873_18368550 | SHMT1 | MTMPV others(478): Show |
chr17 | 18322873 | 18368550 |
a0003 | 0/0 | 483 | 2 | 1 | 0 | 1 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | MTMPV others(478): Show |
chr17 | 18322873 | 18368550 |
a0004 | 0/0 | 483 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | MTMPV others(478): Show |
chr17 | 18322873 | 18368550 |
a0005 | 0/0 | 483 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | SHMT1_chr17_18322873_18368550 | SHMT1 | MTMPV others(478): Show |
chr17 | 18322873 | 18368550 |
achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 1/1 | 1449 | 169 | 30 | 35 | 77 | 5 | 20 | SHMT1_chr17_18322873_18368550 | SHMT1 | ATGAC others(1444): Show |
chr17 | 18322873 | 18368550 | ||
a0001c0003 | 0/0 | 1449 | 6 | 6 | 0 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | ATGAC others(1444): Show |
chr17 | 18322873 | 18368550 | ||
a0002c0002 | 0/0 | 1449 | 41 | 10 | 9 | 15 | 3 | 4 | SHMT1_chr17_18322873_18368550 | SHMT1 | ATGAC others(1444): Show |
chr17 | 18322873 | 18368550 | ||
a0003c0004 | 0/0 | 1449 | 2 | 1 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | ATGAC others(1444): Show |
chr17 | 18322873 | 18368550 | ||
a0004c0006 | 0/0 | 1449 | 1 | 1 | 0 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | ATGAC others(1444): Show |
chr17 | 18322873 | 18368550 | ||
a0005c0005 | 0/0 | 1449 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | ATGAC others(1444): Show |
chr17 | 18322873 | 18368550 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 1/1 | 2527 | 148 | 18 | 30 | 76 | 4 | 18 | SHMT1_chr17_18322873_18368550 | SHMT1 | AAGCC others(2522): Show |
chr17 | 18322873 | 18368550 |
a0001c0001t0003 | 0/0 | 2527 | 9 | 8 | 1 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | AAGCC others(2522): Show |
chr17 | 18322873 | 18368550 |
a0001c0001t0004 | 0/0 | 2527 | 4 | 2 | 2 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | AAGCC others(2522): Show |
chr17 | 18322873 | 18368550 |
a0001c0001t0006 | 0/0 | 2527 | 2 | 0 | 0 | 0 | 1 | 1 | SHMT1_chr17_18322873_18368550 | SHMT1 | AAGCC others(2522): Show |
chr17 | 18322873 | 18368550 |
a0001c0001t0007 | 0/0 | 2527 | 2 | 2 | 0 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | AAGCC others(2522): Show |
chr17 | 18322873 | 18368550 |
a0001c0001t0008 | 0/0 | 2527 | 2 | 0 | 1 | 0 | 0 | 1 | SHMT1_chr17_18322873_18368550 | SHMT1 | AAGCC others(2522): Show |
chr17 | 18322873 | 18368550 |
a0001c0001t0009 | 0/0 | 2527 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | AAGCC others(2522): Show |
chr17 | 18322873 | 18368550 |
a0001c0001t0010 | 0/0 | 2527 | 1 | 0 | 1 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | AAGCC others(2522): Show |
chr17 | 18322873 | 18368550 |
a0001c0003t0003 | 0/0 | 2527 | 6 | 6 | 0 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | AAGCC others(2522): Show |
chr17 | 18322873 | 18368550 |
a0002c0002t0002 | 0/0 | 2527 | 38 | 8 | 8 | 15 | 3 | 4 | SHMT1_chr17_18322873_18368550 | SHMT1 | AAGCC others(2522): Show |
chr17 | 18322873 | 18368550 |
a0002c0002t0005 | 0/0 | 2527 | 3 | 2 | 1 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | AAGCC others(2522): Show |
chr17 | 18322873 | 18368550 |
a0003c0004t0003 | 0/0 | 2527 | 2 | 1 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | AAGCC others(2522): Show |
chr17 | 18322873 | 18368550 |
a0004c0006t0003 | 0/0 | 2527 | 1 | 1 | 0 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | AAGCC others(2522): Show |
chr17 | 18322873 | 18368550 |
a0005c0005t0001 | 0/0 | 2527 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | AAGCC others(2522): Show |
chr17 | 18322873 | 18368550 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0001 | 0/0 | 7 | 2 | 1 | 4 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0002 | 0/0 | 4 | 0 | 3 | 0 | 1 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0004 | 0/0 | 3 | 0 | 2 | 0 | 0 | 1 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0005 | 0/0 | 3 | 0 | 1 | 1 | 1 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0006 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0007 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0008 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0009 | 0/0 | 2 | 0 | 0 | 1 | 0 | 1 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0010 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0011 | 0/0 | 2 | 0 | 0 | 1 | 0 | 1 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0012 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0013 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0014 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0064 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0065 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0067 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0068 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0069 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0070 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0075 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0076 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0077 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0081 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0082 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0086 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0089 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0092 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0093 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0094 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0096 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0098 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0102 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0104 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0106 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0108 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0109 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0111 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0114 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0115 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0120 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0121 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0122 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0125 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0126 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0127 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0128 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0130 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0131 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0134 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0135 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0136 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0137 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0138 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0140 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0147 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0148 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0149 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0151 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0156 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0160 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0161 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0162 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0165 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0169 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0171 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0172 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0173 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0175 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0176 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0177 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0178 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0179 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0180 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0181 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0182 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0001g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0003g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0003g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0003g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0003g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0003g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0003g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0003g0056 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0003g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0003g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0004g0015 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0004g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0004g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0004g0018 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0006g0129 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0006g0150 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0007g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0007g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0008g0074 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0008g0184 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0009g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0001t0010g0174 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0003t0003g0185 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0003t0003g0186 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0003t0003g0187 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0003t0003g0188 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0003t0003g0189 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0001c0003t0003g0190 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0002c0002t0002g0003 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0002c0002t0002g0020 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0002c0002t0002g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0002c0002t0002g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0002c0002t0002g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0002c0002t0002g0024 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0002c0002t0002g0025 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0002c0002t0002g0026 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0002c0002t0002g0027 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0002c0002t0002g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0002c0002t0002g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0002c0002t0002g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0002c0002t0002g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0002c0002t0002g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0002c0002t0002g0033 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0002c0002t0002g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0002c0002t0002g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0002c0002t0002g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0002c0002t0002g0037 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0002c0002t0002g0038 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0002c0002t0002g0039 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0002c0002t0002g0040 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0002c0002t0002g0041 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0002c0002t0002g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0002c0002t0002g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0002c0002t0002g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0002c0002t0002g0045 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0002c0002t0002g0046 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0002c0002t0002g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0002c0002t0002g0048 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0002c0002t0002g0049 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0002c0002t0002g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0002c0002t0002g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0002c0002t0002g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0002c0002t0002g0163 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0002c0002t0002g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0002c0002t0005g0192 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0002c0002t0005g0193 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0002c0002t0005g0194 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0003c0004t0003g0152 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0003c0004t0003g0153 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0004c0006t0003g0191 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
a0005c0005t0001g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00438 | hp1 | a0001 | c0001 | t0001 | g0143 | EAS | CHS | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG00438 | hp2 | a0001 | c0001 | t0001 | g0073 | EAS | CHS | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG00544 | hp1 | a0002 | c0002 | t0002 | g0021 | EAS | CHS | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG00544 | hp2 | a0001 | c0001 | t0001 | g0113 | EAS | CHS | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG00639 | hp1 | a0001 | c0001 | t0001 | g0120 | AMR | PUR | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG00639 | hp2 | a0001 | c0001 | t0001 | g0004 | AMR | PUR | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG00642 | hp1 | a0001 | c0001 | t0003 | g0056 | AMR | PUR | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG00642 | hp2 | a0001 | c0001 | t0001 | g0172 | AMR | PUR | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG01070 | hp1 | a0001 | c0001 | t0001 | g0068 | AMR | PUR | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG01070 | hp2 | a0001 | c0001 | t0001 | g0160 | AMR | PUR | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG01081 | hp1 | a0002 | c0002 | t0002 | g0024 | AMR | PUR | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG01081 | hp2 | a0001 | c0001 | t0001 | g0004 | AMR | PUR | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG01106 | hp1 | a0001 | c0001 | t0001 | g0106 | AMR | PUR | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG01106 | hp2 | a0002 | c0002 | t0002 | g0020 | AMR | PUR | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG01109 | hp1 | a0001 | c0001 | t0001 | g0002 | AMR | PUR | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG01109 | hp2 | a0001 | c0001 | t0004 | g0018 | AMR | PUR | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG01175 | hp1 | a0002 | c0002 | t0002 | g0040 | AMR | PUR | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG01175 | hp2 | a0001 | c0001 | t0008 | g0184 | AMR | PUR | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG01192 | hp1 | a0001 | c0001 | t0001 | g0104 | AMR | PUR | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG01192 | hp2 | a0002 | c0002 | t0002 | g0033 | AMR | PUR | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG01243 | hp1 | a0001 | c0001 | t0001 | g0151 | AMR | PUR | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG01243 | hp2 | a0002 | c0002 | t0002 | g0045 | AMR | PUR | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG01256 | hp1 | a0001 | c0001 | t0001 | g0005 | AMR | CLM | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG01256 | hp2 | a0001 | c0001 | t0001 | g0127 | AMR | CLM | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG01261 | hp1 | a0001 | c0001 | t0001 | g0069 | AMR | CLM | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG01261 | hp2 | a0002 | c0002 | t0002 | g0041 | AMR | CLM | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG01346 | hp1 | a0001 | c0001 | t0001 | g0064 | AMR | CLM | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG01346 | hp2 | a0001 | c0001 | t0001 | g0165 | AMR | CLM | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG01361 | hp1 | a0001 | c0001 | t0001 | g0111 | AMR | CLM | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG01361 | hp2 | a0002 | c0002 | t0005 | g0192 | AMR | CLM | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG01433 | hp1 | a0001 | c0001 | t0004 | g0015 | AMR | CLM | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG01433 | hp2 | a0001 | c0001 | t0001 | g0002 | AMR | CLM | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG01515 | hp1 | a0002 | c0002 | t0002 | g0027 | EUR | IBS | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG01515 | hp2 | a0001 | c0001 | t0001 | g0081 | EUR | IBS | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG01516 | hp1 | a0002 | c0002 | t0002 | g0025 | EUR | IBS | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG01516 | hp2 | a0001 | c0001 | t0001 | g0093 | EUR | IBS | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG01891 | hp1 | a0002 | c0002 | t0002 | g0043 | AFR | ACB | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG01891 | hp2 | a0001 | c0001 | t0007 | g0059 | AFR | ACB | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG01943 | hp1 | a0001 | c0001 | t0001 | g0126 | AMR | PEL | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG01943 | hp2 | a0001 | c0001 | t0001 | g0082 | AMR | PEL | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG01952 | hp1 | a0002 | c0002 | t0002 | g0037 | AMR | PEL | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG01952 | hp2 | a0001 | c0001 | t0001 | g0002 | AMR | PEL | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG01975 | hp1 | a0001 | c0001 | t0001 | g0149 | AMR | PEL | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG01975 | hp2 | a0001 | c0001 | t0001 | g0180 | AMR | PEL | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG01978 | hp1 | a0001 | c0001 | t0001 | g0179 | AMR | PEL | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG01978 | hp2 | a0001 | c0001 | t0001 | g0086 | AMR | PEL | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG01981 | hp1 | a0001 | c0001 | t0001 | g0177 | AMR | PEL | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG01981 | hp2 | a0001 | c0001 | t0001 | g0092 | AMR | PEL | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG01993 | hp1 | a0001 | c0001 | t0010 | g0174 | AMR | PEL | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG01993 | hp2 | a0002 | c0002 | t0002 | g0048 | AMR | PEL | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG02004 | hp1 | a0001 | c0001 | t0001 | g0122 | AMR | PEL | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG02004 | hp2 | a0001 | c0001 | t0001 | g0181 | AMR | PEL | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG02015 | hp1 | a0001 | c0001 | t0001 | g0097 | EAS | KHV | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG02015 | hp2 | a0001 | c0001 | t0001 | g0137 | EAS | KHV | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG02027 | hp1 | a0001 | c0001 | t0001 | g0110 | EAS | KHV | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG02027 | hp2 | a0001 | c0001 | t0001 | g0155 | EAS | KHV | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG02055 | hp1 | a0001 | c0001 | t0001 | g0089 | AFR | ACB | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG02055 | hp2 | a0002 | c0002 | t0005 | g0194 | AFR | ACB | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG02056 | hp1 | a0001 | c0001 | t0001 | g0084 | EAS | KHV | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG02056 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG02071 | hp1 | a0001 | c0001 | t0001 | g0116 | EAS | KHV | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG02071 | hp2 | a0001 | c0001 | t0001 | g0139 | EAS | KHV | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG02074 | hp1 | a0001 | c0001 | t0001 | g0146 | EAS | KHV | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG02074 | hp2 | a0001 | c0001 | t0001 | g0158 | EAS | KHV | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG02135 | hp1 | a0003 | c0004 | t0003 | g0152 | EAS | KHV | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG02135 | hp2 | a0001 | c0001 | t0001 | g0124 | EAS | KHV | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG02145 | hp1 | a0002 | c0002 | t0002 | g0023 | AFR | ACB | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG02145 | hp2 | a0001 | c0001 | t0003 | g0055 | AFR | ACB | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG02273 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG02273 | hp2 | a0001 | c0001 | t0001 | g0173 | AMR | PEL | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG02280 | hp1 | a0001 | c0001 | t0001 | g0013 | AFR | ACB | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG02280 | hp2 | a0002 | c0002 | t0002 | g0031 | AFR | ACB | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG02451 | hp1 | a0001 | c0001 | t0001 | g0133 | AFR | ACB | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG02451 | hp2 | a0001 | c0001 | t0001 | g0006 | AFR | ACB | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG02615 | hp1 | a0002 | c0002 | t0002 | g0035 | AFR | GWD | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG02615 | hp2 | a0001 | c0001 | t0003 | g0057 | AFR | GWD | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG02622 | hp1 | a0001 | c0003 | t0003 | g0188 | AFR | GWD | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG02622 | hp2 | a0001 | c0001 | t0003 | g0060 | AFR | GWD | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG02630 | hp1 | a0001 | c0001 | t0004 | g0017 | AFR | GWD | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG02630 | hp2 | a0003 | c0004 | t0003 | g0153 | AFR | GWD | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG02698 | hp1 | a0001 | c0001 | t0001 | g0131 | SAS | PJL | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG02698 | hp2 | a0001 | c0001 | t0001 | g0011 | SAS | PJL | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG02738 | hp1 | a0001 | c0001 | t0008 | g0074 | SAS | PJL | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG02738 | hp2 | a0001 | c0001 | t0001 | g0115 | SAS | PJL | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG02895 | hp1 | a0001 | c0003 | t0003 | g0190 | AFR | GWD | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG02895 | hp2 | a0001 | c0001 | t0001 | g0012 | AFR | GWD | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG02897 | hp1 | a0001 | c0001 | t0007 | g0058 | AFR | GWD | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG02897 | hp2 | a0001 | c0001 | t0001 | g0012 | AFR | GWD | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG02922 | hp1 | a0001 | c0001 | t0004 | g0016 | AFR | ESN | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG02922 | hp2 | a0001 | c0001 | t0001 | g0006 | AFR | ESN | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG02965 | hp1 | a0001 | c0001 | t0001 | g0078 | AFR | ESN | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG02965 | hp2 | a0001 | c0001 | t0001 | g0006 | AFR | ESN | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG02970 | hp1 | a0004 | c0006 | t0003 | g0191 | AFR | ESN | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG02970 | hp2 | a0001 | c0001 | t0001 | g0010 | AFR | ESN | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG03017 | hp1 | a0001 | c0001 | t0001 | g0004 | SAS | PJL | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG03017 | hp2 | a0001 | c0001 | t0001 | g0094 | SAS | PJL | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG03041 | hp1 | a0001 | c0001 | t0003 | g0054 | AFR | GWD | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG03041 | hp2 | a0001 | c0001 | t0001 | g0161 | AFR | GWD | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG03195 | hp1 | a0001 | c0003 | t0003 | g0186 | AFR | ESN | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG03195 | hp2 | a0001 | c0001 | t0003 | g0052 | AFR | ESN | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG03486 | hp1 | a0002 | c0002 | t0002 | g0034 | AFR | MSL | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG03486 | hp2 | a0001 | c0001 | t0001 | g0013 | AFR | MSL | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG03491 | hp1 | a0001 | c0001 | t0006 | g0129 | SAS | PJL | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG03491 | hp2 | a0001 | c0001 | t0001 | g0098 | SAS | PJL | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG03654 | hp1 | a0001 | c0001 | t0001 | g0102 | SAS | PJL | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG03654 | hp2 | a0002 | c0002 | t0002 | g0038 | SAS | PJL | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG03704 | hp1 | a0001 | c0001 | t0001 | g0121 | SAS | PJL | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG03704 | hp2 | a0002 | c0002 | t0002 | g0046 | SAS | PJL | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG03710 | hp1 | a0001 | c0001 | t0001 | g0065 | SAS | PJL | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG03710 | hp2 | a0001 | c0001 | t0001 | g0009 | SAS | PJL | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG03831 | hp1 | a0001 | c0001 | t0001 | g0178 | SAS | BEB | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG03831 | hp2 | a0002 | c0002 | t0002 | g0039 | SAS | BEB | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG03834 | hp1 | a0001 | c0001 | t0001 | g0114 | SAS | BEB | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG03834 | hp2 | a0001 | c0001 | t0001 | g0128 | SAS | BEB | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG03942 | hp1 | a0001 | c0001 | t0001 | g0070 | SAS | BEB | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG03942 | hp2 | a0001 | c0001 | t0001 | g0109 | SAS | BEB | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG04115 | hp1 | a0001 | c0001 | t0001 | g0077 | SAS | STU | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG04115 | hp2 | a0002 | c0002 | t0002 | g0026 | SAS | STU | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG04228 | hp1 | a0001 | c0001 | t0001 | g0096 | SAS | STU | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG04228 | hp2 | a0001 | c0001 | t0001 | g0130 | SAS | STU | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA18522 | hp1 | a0001 | c0003 | t0003 | g0185 | AFR | YRI | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA18522 | hp2 | a0001 | c0003 | t0003 | g0189 | AFR | YRI | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA18612 | hp1 | a0001 | c0001 | t0001 | g0071 | EAS | CHB | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA18612 | hp2 | a0002 | c0002 | t0002 | g0036 | EAS | CHB | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA18747 | hp1 | a0001 | c0001 | t0001 | g0136 | EAS | CHB | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA18747 | hp2 | a0001 | c0001 | t0001 | g0182 | EAS | CHB | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA18906 | hp1 | a0001 | c0001 | t0003 | g0050 | AFR | YRI | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA18906 | hp2 | a0002 | c0002 | t0002 | g0044 | AFR | YRI | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA18939 | hp1 | a0001 | c0001 | t0001 | g0091 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA18939 | hp2 | a0002 | c0002 | t0002 | g0003 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA18942 | hp1 | a0001 | c0001 | t0001 | g0157 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA18942 | hp2 | a0001 | c0001 | t0001 | g0167 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA18943 | hp1 | a0001 | c0001 | t0001 | g0076 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA18943 | hp2 | a0001 | c0001 | t0001 | g0145 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA18944 | hp1 | a0001 | c0001 | t0001 | g0085 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA18944 | hp2 | a0001 | c0001 | t0001 | g0105 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA18945 | hp1 | a0001 | c0001 | t0001 | g0135 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA18945 | hp2 | a0001 | c0001 | t0001 | g0176 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA18946 | hp1 | a0002 | c0002 | t0002 | g0042 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA18946 | hp2 | a0001 | c0001 | t0001 | g0156 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA18950 | hp1 | a0002 | c0002 | t0002 | g0003 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA18950 | hp2 | a0001 | c0001 | t0001 | g0011 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA18952 | hp1 | a0001 | c0001 | t0001 | g0007 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA18952 | hp2 | a0001 | c0001 | t0001 | g0144 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA18953 | hp1 | a0001 | c0001 | t0001 | g0079 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA18953 | hp2 | a0001 | c0001 | t0001 | g0008 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA18954 | hp1 | a0001 | c0001 | t0001 | g0007 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA18954 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA18956 | hp1 | a0001 | c0001 | t0001 | g0005 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA18956 | hp2 | a0001 | c0001 | t0001 | g0066 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA18959 | hp1 | a0001 | c0001 | t0001 | g0168 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA18959 | hp2 | a0001 | c0001 | t0001 | g0125 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA18963 | hp1 | a0001 | c0001 | t0001 | g0063 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA18963 | hp2 | a0001 | c0001 | t0001 | g0142 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA18970 | hp1 | a0001 | c0001 | t0001 | g0140 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA18970 | hp2 | a0001 | c0001 | t0001 | g0103 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA18973 | hp1 | a0001 | c0001 | t0001 | g0014 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA18973 | hp2 | a0001 | c0001 | t0001 | g0009 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA18977 | hp1 | a0001 | c0001 | t0001 | g0171 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA18977 | hp2 | a0002 | c0002 | t0002 | g0166 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA18980 | hp1 | a0002 | c0002 | t0002 | g0118 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA18980 | hp2 | a0001 | c0001 | t0001 | g0062 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA18986 | hp1 | a0002 | c0002 | t0002 | g0117 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA18986 | hp2 | a0001 | c0001 | t0001 | g0019 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA18988 | hp1 | a0001 | c0001 | t0001 | g0183 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA18988 | hp2 | a0001 | c0001 | t0001 | g0164 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA18989 | hp1 | a0002 | c0002 | t0002 | g0028 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA18989 | hp2 | a0001 | c0001 | t0001 | g0170 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA18991 | hp1 | a0001 | c0001 | t0001 | g0138 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA18991 | hp2 | a0001 | c0001 | t0001 | g0119 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA18993 | hp1 | a0001 | c0001 | t0001 | g0107 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA18993 | hp2 | a0002 | c0002 | t0002 | g0159 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA18997 | hp1 | a0001 | c0001 | t0001 | g0087 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA18997 | hp2 | a0001 | c0001 | t0001 | g0141 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA18998 | hp1 | a0001 | c0001 | t0001 | g0169 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA18998 | hp2 | a0001 | c0001 | t0001 | g0154 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA19003 | hp1 | a0002 | c0002 | t0002 | g0047 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA19003 | hp2 | a0005 | c0005 | t0001 | g0072 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA19009 | hp1 | a0002 | c0002 | t0002 | g0022 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA19009 | hp2 | a0001 | c0001 | t0001 | g0112 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA19011 | hp1 | a0001 | c0001 | t0001 | g0090 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA19011 | hp2 | a0001 | c0001 | t0001 | g0088 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA19030 | hp1 | a0001 | c0001 | t0001 | g0123 | AFR | LWK | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA19030 | hp2 | a0001 | c0003 | t0003 | g0187 | AFR | LWK | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA19043 | hp1 | a0001 | c0001 | t0001 | g0162 | AFR | LWK | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA19043 | hp2 | a0002 | c0002 | t0002 | g0032 | AFR | LWK | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA19054 | hp1 | a0001 | c0001 | t0001 | g0134 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA19054 | hp2 | a0001 | c0001 | t0009 | g0080 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA19062 | hp1 | a0002 | c0002 | t0002 | g0029 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA19062 | hp2 | a0001 | c0001 | t0001 | g0014 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA19063 | hp1 | a0001 | c0001 | t0001 | g0132 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA19063 | hp2 | a0001 | c0001 | t0001 | g0007 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA19066 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA19066 | hp2 | a0001 | c0001 | t0001 | g0095 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA19070 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA19070 | hp2 | a0001 | c0001 | t0001 | g0008 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA19077 | hp1 | a0001 | c0001 | t0001 | g0101 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA19077 | hp2 | a0001 | c0001 | t0001 | g0099 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA19083 | hp1 | a0001 | c0001 | t0001 | g0061 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA19083 | hp2 | a0002 | c0002 | t0002 | g0030 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA19087 | hp1 | a0001 | c0001 | t0001 | g0100 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA19087 | hp2 | a0001 | c0001 | t0001 | g0148 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA19088 | hp1 | a0001 | c0001 | t0001 | g0175 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA19088 | hp2 | a0001 | c0001 | t0001 | g0083 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA19090 | hp1 | a0001 | c0001 | t0001 | g0108 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA19090 | hp2 | a0002 | c0002 | t0002 | g0003 | EAS | JPT | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA20129 | hp1 | a0001 | c0001 | t0003 | g0051 | AFR | ASW | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA20129 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | ASW | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA20752 | hp1 | a0001 | c0001 | t0001 | g0002 | EUR | TSI | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA20752 | hp2 | a0002 | c0002 | t0002 | g0049 | EUR | TSI | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA20805 | hp1 | a0001 | c0001 | t0001 | g0005 | EUR | TSI | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA20805 | hp2 | a0001 | c0001 | t0006 | g0150 | EUR | TSI | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG02109 | hp1 | a0001 | c0001 | t0003 | g0053 | AFR | ACB | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
HG02109 | hp2 | a0001 | c0001 | t0001 | g0010 | AFR | ACB | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA20300 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | USA | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA20300 | hp2 | a0002 | c0002 | t0005 | g0193 | AFR | USA | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA21309 | hp1 | a0001 | c0001 | t0001 | g0147 | AFR | LWK | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
NA21309 | hp2 | a0002 | c0002 | t0002 | g0163 | AFR | LWK | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
homoSapiens | chm13v2 | a0001 | c0001 | t0001 | g0067 | REF | REF | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
homoSapiens | grch38p0 | a0001 | c0001 | t0001 | g0075 | REF | REF | SHMT1_chr17_18322873_18368550 | SHMT1 | chr17 | 18322873 | 18368550 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr17:18328782 | G | A | 1 | a0002 | 41 | HG00544.hp1 HG01081.hp1 HG01106.hp2 others(38): Show |
missense_variant | MODERATE | c.1420C>T | p.Leu474Phe | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 12/12 | 1618/2527 | 1420/1452 | 474/483 | chr17 | 18328782 | |||
chr17:18328827 | C | G | 1 | a0005 | 1 | NA19003.hp2 | missense_variant | MODERATE | c.1375G>C | p.Ala459Pro | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 12/12 | 1573/2527 | 1375/1452 | 459/483 | chr17 | 18328827 | |||
chr17:18340210 | T | C | 1 | a0003 | 2 | HG02135.hp1 HG02630.hp2 |
missense_variant | MODERATE | c.647A>G | p.Lys216Arg | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 7/12 | 845/2527 | 647/1452 | 216/483 | chr17 | 18340210 | |||
chr17:18340220 | G | A | 1 | a0004 | 1 | HG02970.hp1 | missense_variant | MODERATE | c.637C>T | p.Arg213Trp | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 7/12 | 835/2527 | 637/1452 | 213/483 | chr17 | 18340220 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr17:18328822 | G | A | 1 | a0001c0003 | 6 | HG02622.hp1 HG02895.hp1 HG03195.hp1 others(3): Show |
synonymous_variant | LOW | c.1380C>T | p.Ala460Ala | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 12/12 | 1578/2527 | 1380/1452 | 460/483 | chr17 | 18328822 | |||
chr17:18328879 | G | T | 1 | a0004c0006 | 1 | HG02970.hp1 | synonymous_variant | LOW | c.1323C>A | p.Val441Val | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 12/12 | 1521/2527 | 1323/1452 | 441/483 | chr17 | 18328879 | |||
chr17:18340104 | C | T | 1 | a0004c0006 | 1 | HG02970.hp1 | synonymous_variant | LOW | c.753G>A | p.Val251Val | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 7/12 | 951/2527 | 753/1452 | 251/483 | chr17 | 18340104 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr17:18328100 | G | A | 1 | a0001c0001t0006 | 2 | HG03491.hp1 NA20805.hp2 |
3_prime_UTR_variant | MODIFIER | c.*650C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 12/12 | 650 | chr17 | 18328100 | ||||||
chr17:18328291 | A | T | 1 | a0001c0001t0009 | 1 | NA19054.hp2 | 3_prime_UTR_variant | MODIFIER | c.*459T>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 12/12 | 459 | chr17 | 18328291 | ||||||
chr17:18328338 | T | C | 4 | a0001c0001t0003 a0001c0003t0003 a0003c0004t0003 others(1): Show |
18 | HG00642.hp1 HG02109.hp1 HG02135.hp1 others(15): Show |
3_prime_UTR_variant | MODIFIER | c.*412A>G | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 12/12 | 412 | chr17 | 18328338 | ||||||
chr17:18328370 | T | C | 1 | a0001c0001t0010 | 1 | HG01993.hp1 | 3_prime_UTR_variant | MODIFIER | c.*380A>G | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 12/12 | 380 | chr17 | 18328370 | ||||||
chr17:18328418 | A | G | 1 | a0001c0001t0007 | 2 | HG01891.hp2 HG02897.hp1 |
3_prime_UTR_variant | MODIFIER | c.*332T>C | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 12/12 | 332 | chr17 | 18328418 | ||||||
chr17:18328483 | T | C | 2 | a0002c0002t0002 a0002c0002t0005 |
41 | HG00544.hp1 HG01081.hp1 HG01106.hp2 others(38): Show |
3_prime_UTR_variant | MODIFIER | c.*267A>G | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 12/12 | 267 | chr17 | 18328483 | ||||||
chr17:18328684 | G | A | 7 | a0001c0001t0003 a0001c0001t0007 a0001c0003t0003 others(4): Show |
61 | HG00544.hp1 HG00642.hp1 HG01081.hp1 others(58): Show |
3_prime_UTR_variant | MODIFIER | c.*66C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 12/12 | 66 | chr17 | 18328684 | ||||||
chr17:18328698 | G | A | 1 | a0001c0001t0008 | 2 | HG01175.hp2 HG02738.hp1 |
3_prime_UTR_variant | MODIFIER | c.*52C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 12/12 | 52 | chr17 | 18328698 | ||||||
chr17:18328703 | G | C | 2 | a0002c0002t0002 a0002c0002t0005 |
41 | HG00544.hp1 HG01081.hp1 HG01106.hp2 others(38): Show |
3_prime_UTR_variant | MODIFIER | c.*47C>G | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 12/12 | 47 | chr17 | 18328703 | ||||||
chr17:18363510 | C | G | 1 | a0001c0001t0004 | 4 | HG01109.hp2 HG01433.hp1 HG02630.hp1 others(1): Show |
5_prime_UTR_variant | MODIFIER | c.-158G>C | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/12 | 7529 | chr17 | 18363510 | ||||||
chr17:18363534 | G | A | 1 | a0002c0002t0005 | 3 | HG01361.hp2 HG02055.hp2 NA20300.hp2 |
5_prime_UTR_variant | MODIFIER | c.-182C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/12 | 7553 | chr17 | 18363534 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr17:18329022 | G | T | 1 | a0001c0001t0001g0012 | 2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.1283-103C>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 11/11 | chr17 | 18329022 | |||||||
chr17:18329168 | T | G | 1 | a0004c0006t0003g0191 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.1282+110A>C | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 11/11 | chr17 | 18329168 | |||||||
chr17:18329257 | C | A | 18 | a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 others(15): Show |
18 | HG00642.hp1 HG02109.hp1 HG02135.hp1 others(15): Show |
intron_variant | MODIFIER | c.1282+21G>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 11/11 | chr17 | 18329257 | |||||||
chr17:18329644 | T | G | 18 | a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 others(15): Show |
18 | HG00642.hp1 HG02109.hp1 HG02135.hp1 others(15): Show |
intron_variant | MODIFIER | c.1172-256A>C | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 10/11 | chr17 | 18329644 | |||||||
chr17:18329741 | G | C | 1 | a0001c0001t0003g0056 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.1172-353C>G | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 10/11 | chr17 | 18329741 | |||||||
chr17:18329867 | T | C | 1 | a0001c0003t0003g0189 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.1172-479A>G | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 10/11 | chr17 | 18329867 | |||||||
chr17:18329900 | C | T | 5 | a0001c0001t0001g0122 a0001c0001t0001g0128 a0001c0001t0001g0130 others(2): Show |
5 | HG01346.hp2 HG02004.hp1 HG02698.hp1 others(2): Show |
intron_variant | MODIFIER | c.1172-512G>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 10/11 | chr17 | 18329900 | |||||||
chr17:18329958 | T | G | 50 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(47): Show |
66 | HG00438.hp1 HG00639.hp1 HG01070.hp2 others(63): Show |
intron_variant | MODIFIER | c.1172-570A>C | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 10/11 | chr17 | 18329958 | |||||||
chr17:18330317 | G | A | 39 | a0002c0002t0002g0003 a0002c0002t0002g0020 a0002c0002t0002g0021 others(36): Show |
41 | HG00544.hp1 HG01081.hp1 HG01106.hp2 others(38): Show |
intron_variant | MODIFIER | c.1171+238C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 10/11 | chr17 | 18330317 | |||||||
chr17:18330426 | G | A | 6 | a0002c0002t0002g0023 a0002c0002t0002g0032 a0002c0002t0002g0034 others(3): Show |
6 | HG01891.hp1 HG02145.hp1 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.1171+129C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 10/11 | chr17 | 18330426 | |||||||
chr17:18330496 | T | C | 39 | a0002c0002t0002g0003 a0002c0002t0002g0020 a0002c0002t0002g0021 others(36): Show |
41 | HG00544.hp1 HG01081.hp1 HG01106.hp2 others(38): Show |
intron_variant | MODIFIER | c.1171+59A>G | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 10/11 | chr17 | 18330496 | |||||||
chr17:18330714 | T | G | 20 | a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 others(17): Show |
20 | HG00642.hp1 HG01891.hp2 HG02109.hp1 others(17): Show |
intron_variant | MODIFIER | c.1055-43A>C | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 9/11 | chr17 | 18330714 | |||||||
chr17:18330834 | G | A | 6 | a0001c0003t0003g0185 a0001c0003t0003g0186 a0001c0003t0003g0187 others(3): Show |
6 | HG02622.hp1 HG02895.hp1 HG03195.hp1 others(3): Show |
intron_variant | MODIFIER | c.1055-163C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 9/11 | chr17 | 18330834 | |||||||
chr17:18331000 | G | A | 1 | a0001c0001t0010g0174 | 1 | HG01993.hp1 | intron_variant | MODIFIER | c.1055-329C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 9/11 | chr17 | 18331000 | |||||||
chr17:18331113 | T | A | 1 | a0001c0001t0001g0092 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.1055-442A>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 9/11 | chr17 | 18331113 | |||||||
chr17:18331153 | A | G | 9 | a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 others(6): Show |
9 | HG00642.hp1 HG02109.hp1 HG02145.hp2 others(6): Show |
intron_variant | MODIFIER | c.1055-482T>C | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 9/11 | chr17 | 18331153 | |||||||
chr17:18331316 | C | T | 1 | a0001c0001t0003g0054 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1055-645G>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 9/11 | chr17 | 18331316 | |||||||
chr17:18331433 | A | T | 2 | a0003c0004t0003g0152 a0003c0004t0003g0153 |
2 | HG02135.hp1 HG02630.hp2 |
intron_variant | MODIFIER | c.1055-762T>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 9/11 | chr17 | 18331433 | |||||||
chr17:18331557 | G | A | 1 | a0001c0001t0001g0102 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.1055-886C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 9/11 | chr17 | 18331557 | |||||||
chr17:18331909 | G | A | 6 | a0001c0003t0003g0185 a0001c0003t0003g0186 a0001c0003t0003g0187 others(3): Show |
6 | HG02622.hp1 HG02895.hp1 HG03195.hp1 others(3): Show |
intron_variant | MODIFIER | c.1055-1238C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 9/11 | chr17 | 18331909 | |||||||
chr17:18332089 | G | A | 20 | a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 others(17): Show |
20 | HG00642.hp1 HG01891.hp2 HG02109.hp1 others(17): Show |
intron_variant | MODIFIER | c.1054+1077C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 9/11 | chr17 | 18332089 | |||||||
chr17:18332269 | C | T | 1 | a0001c0001t0001g0143 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.1054+897G>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 9/11 | chr17 | 18332269 | |||||||
chr17:18332578 | C | T | 2 | a0001c0001t0001g0097 a0001c0001t0001g0114 |
2 | HG02015.hp1 HG03834.hp1 |
intron_variant | MODIFIER | c.1054+588G>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 9/11 | chr17 | 18332578 | |||||||
chr17:18332728 | T | C | 20 | a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 others(17): Show |
20 | HG00642.hp1 HG01891.hp2 HG02109.hp1 others(17): Show |
intron_variant | MODIFIER | c.1054+438A>G | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 9/11 | chr17 | 18332728 | |||||||
chr17:18333025 | G | A | 50 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(47): Show |
66 | HG00438.hp1 HG00639.hp1 HG01070.hp2 others(63): Show |
intron_variant | MODIFIER | c.1054+141C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 9/11 | chr17 | 18333025 | |||||||
chr17:18333591 | G | A | 1 | a0002c0002t0002g0049 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.932-303C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 8/11 | chr17 | 18333591 | |||||||
chr17:18333802 | A | G | 50 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(47): Show |
66 | HG00438.hp1 HG00639.hp1 HG01070.hp2 others(63): Show |
intron_variant | MODIFIER | c.932-514T>C | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 8/11 | chr17 | 18333802 | |||||||
chr17:18334025 | G | A | 1 | a0001c0001t0001g0064 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.932-737C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 8/11 | chr17 | 18334025 | |||||||
chr17:18334063 | C | G | 2 | a0003c0004t0003g0152 a0003c0004t0003g0153 |
2 | HG02135.hp1 HG02630.hp2 |
intron_variant | MODIFIER | c.932-775G>C | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 8/11 | chr17 | 18334063 | |||||||
chr17:18334148 | G | T | 1 | a0002c0002t0002g0031 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.932-860C>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 8/11 | chr17 | 18334148 | |||||||
chr17:18334349 | A | G | 19 | a0001c0001t0001g0151 a0001c0001t0003g0050 a0001c0001t0003g0051 others(16): Show |
19 | HG00642.hp1 HG01243.hp1 HG02109.hp1 others(16): Show |
intron_variant | MODIFIER | c.932-1061T>C | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 8/11 | chr17 | 18334349 | |||||||
chr17:18335030 | C | T | 3 | a0001c0001t0001g0008 a0001c0001t0001g0085 a0001c0001t0001g0087 |
4 | NA18944.hp1 NA18953.hp2 NA18997.hp1 others(1): Show |
intron_variant | MODIFIER | c.931+529G>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 8/11 | chr17 | 18335030 | |||||||
chr17:18335224 | C | T | 2 | a0001c0001t0001g0078 a0001c0001t0001g0104 |
2 | HG01192.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.931+335G>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 8/11 | chr17 | 18335224 | |||||||
chr17:18335678 | G | A | 1 | a0001c0001t0001g0089 | 1 | HG02055.hp1 | splice_region_variant&intron_variant | LOW | c.815-3C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 7/11 | chr17 | 18335678 | |||||||
chr17:18335698 | G | A | 57 | a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 others(54): Show |
59 | HG00544.hp1 HG00642.hp1 HG01081.hp1 others(56): Show |
intron_variant | MODIFIER | c.815-23C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 7/11 | chr17 | 18335698 | |||||||
chr17:18335806 | T | C | 1 | a0001c0001t0001g0162 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.815-131A>G | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 7/11 | chr17 | 18335806 | |||||||
chr17:18335952 | CTCT | C | 5 | a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 others(2): Show |
5 | HG01070.hp1 HG01261.hp1 HG02074.hp2 others(2): Show |
intron_variant | MODIFIER | c.815-280_815-278del others(3): Show |
SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 7/11 | chr17 | 18335952 | |||||||
chr17:18336110 | C | G | 1 | a0001c0001t0001g0070 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.815-435G>C | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 7/11 | chr17 | 18336110 | |||||||
chr17:18336233 | C | T | 9 | a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 others(6): Show |
9 | HG00642.hp1 HG02109.hp1 HG02145.hp2 others(6): Show |
intron_variant | MODIFIER | c.815-558G>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 7/11 | chr17 | 18336233 | |||||||
chr17:18336530 | G | A | 1 | a0002c0002t0002g0031 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.815-855C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 7/11 | chr17 | 18336530 | |||||||
chr17:18336582 | G | A | 39 | a0002c0002t0002g0003 a0002c0002t0002g0020 a0002c0002t0002g0021 others(36): Show |
41 | HG00544.hp1 HG01081.hp1 HG01106.hp2 others(38): Show |
intron_variant | MODIFIER | c.815-907C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 7/11 | chr17 | 18336582 | |||||||
chr17:18336680 | A | C | 1 | a0001c0001t0001g0077 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.815-1005T>G | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 7/11 | chr17 | 18336680 | |||||||
chr17:18336808 | T | C | 2 | a0001c0001t0001g0077 a0001c0001t0001g0094 |
2 | HG03017.hp2 HG04115.hp1 |
intron_variant | MODIFIER | c.815-1133A>G | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 7/11 | chr17 | 18336808 | |||||||
chr17:18336946 | C | G | 1 | a0001c0001t0001g0019 | 1 | NA18986.hp2 | intron_variant | MODIFIER | c.815-1271G>C | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 7/11 | chr17 | 18336946 | |||||||
chr17:18337080 | CATCT | C | 38 | a0002c0002t0002g0003 a0002c0002t0002g0020 a0002c0002t0002g0021 others(35): Show |
40 | HG00544.hp1 HG01081.hp1 HG01106.hp2 others(37): Show |
intron_variant | MODIFIER | c.815-1409_815-1406d others(6): Show |
SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 7/11 | chr17 | 18337080 | |||||||
chr17:18337155 | C | G | 1 | a0001c0001t0001g0083 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.815-1480G>C | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 7/11 | chr17 | 18337155 | |||||||
chr17:18337296 | G | A | 1 | a0001c0001t0003g0055 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.815-1621C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 7/11 | chr17 | 18337296 | |||||||
chr17:18337432 | C | G | 64 | a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 others(61): Show |
66 | HG00544.hp1 HG00642.hp1 HG01070.hp1 others(63): Show |
intron_variant | MODIFIER | c.815-1757G>C | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 7/11 | chr17 | 18337432 | |||||||
chr17:18337541 | G | GCCCTCT | 37 | a0002c0002t0002g0003 a0002c0002t0002g0020 a0002c0002t0002g0021 others(34): Show |
39 | HG00544.hp1 HG01081.hp1 HG01106.hp2 others(36): Show |
intron_variant | MODIFIER | c.815-1872_815-1867d others(8): Show |
SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 7/11 | chr17 | 18337541 | |||||||
chr17:18337547 | TCCCTCTC others(5): Show |
T | 18 | a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 others(15): Show |
18 | HG00642.hp1 HG02109.hp1 HG02135.hp1 others(15): Show |
intron_variant | MODIFIER | c.815-1884_815-1873d others(14): Show |
SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 7/11 | chr17 | 18337547 | |||||||
chr17:18337559 | C | T | 2 | a0002c0002t0002g0118 a0002c0002t0005g0194 |
2 | HG02055.hp2 NA18980.hp1 |
intron_variant | MODIFIER | c.815-1884G>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 7/11 | chr17 | 18337559 | |||||||
chr17:18337577 | CCCACGGT others(14): Show |
C | 28 | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0014 others(25): Show |
36 | HG00438.hp1 HG01943.hp1 HG01975.hp1 others(33): Show |
intron_variant | MODIFIER | c.815-1923_815-1903d others(23): Show |
SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 7/11 | chr17 | 18337577 | |||||||
chr17:18337770 | T | C | 1 | a0001c0001t0007g0058 | 1 | HG02897.hp1 | intron_variant | MODIFIER | c.815-2095A>G | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 7/11 | chr17 | 18337770 | |||||||
chr17:18337782 | C | T | 1 | a0001c0001t0007g0058 | 1 | HG02897.hp1 | intron_variant | MODIFIER | c.815-2107G>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 7/11 | chr17 | 18337782 | |||||||
chr17:18337904 | T | C | 114 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(111): Show |
132 | HG00438.hp1 HG00544.hp1 HG00639.hp1 others(129): Show |
intron_variant | MODIFIER | c.814+2139A>G | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 7/11 | chr17 | 18337904 | |||||||
chr17:18337992 | A | AC | 5 | a0001c0001t0001g0061 a0001c0001t0001g0134 a0001c0001t0001g0142 others(2): Show |
5 | NA18963.hp2 NA19003.hp2 NA19054.hp1 others(2): Show |
intron_variant | MODIFIER | c.814+2050dupG | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 7/11 | chr17 | 18337992 | |||||||
chr17:18337996 | C | A | 1 | a0001c0001t0001g0160 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.814+2047G>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 7/11 | chr17 | 18337996 | |||||||
chr17:18338015 | GTCTCTGC others(302): Show |
G | 3 | a0002c0002t0005g0192 a0002c0002t0005g0193 a0002c0002t0005g0194 |
3 | HG01361.hp2 HG02055.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.814+1719_814+2027d others(2): Show |
SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 7/11 | chr17 | 18338015 | |||||||
chr17:18338031 | T | C | 54 | a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 others(51): Show |
56 | HG00544.hp1 HG00642.hp1 HG01081.hp1 others(53): Show |
intron_variant | MODIFIER | c.814+2012A>G | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 7/11 | chr17 | 18338031 | |||||||
chr17:18338040 | G | C | 54 | a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 others(51): Show |
56 | HG00544.hp1 HG00642.hp1 HG01081.hp1 others(53): Show |
intron_variant | MODIFIER | c.814+2003C>G | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 7/11 | chr17 | 18338040 | |||||||
chr17:18338100 | C | T | 1 | a0002c0002t0002g0035 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.814+1943G>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 7/11 | chr17 | 18338100 | |||||||
chr17:18338184 | G | A | 1 | a0001c0001t0001g0014 | 1 | NA18973.hp1 | intron_variant | MODIFIER | c.814+1859C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 7/11 | chr17 | 18338184 | |||||||
chr17:18338217 | G | A | 14 | a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 others(11): Show |
14 | HG00642.hp1 HG01070.hp1 HG01261.hp1 others(11): Show |
intron_variant | MODIFIER | c.814+1826C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 7/11 | chr17 | 18338217 | |||||||
chr17:18338324 | A | G | 54 | a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 others(51): Show |
56 | HG00544.hp1 HG00642.hp1 HG01081.hp1 others(53): Show |
intron_variant | MODIFIER | c.814+1719T>C | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 7/11 | chr17 | 18338324 | |||||||
chr17:18338350 | G | A | 1 | a0001c0001t0001g0066 | 1 | NA18956.hp2 | intron_variant | MODIFIER | c.814+1693C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 7/11 | chr17 | 18338350 | |||||||
chr17:18338452 | GCCTCTGC others(30): Show |
G | 1 | a0001c0001t0001g0122 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.814+1554_814+1590d others(39): Show |
SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 7/11 | chr17 | 18338452 | |||||||
chr17:18338543 | A | AC | 22 | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0065 others(19): Show |
22 | HG00438.hp2 HG00642.hp2 HG01361.hp1 others(19): Show |
intron_variant | MODIFIER | c.814+1499dupG | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 7/11 | chr17 | 18338543 | |||||||
chr17:18338548 | G | A | 18 | a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 others(15): Show |
18 | HG00642.hp1 HG02109.hp1 HG02135.hp1 others(15): Show |
intron_variant | MODIFIER | c.814+1495C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 7/11 | chr17 | 18338548 | |||||||
chr17:18338562 | C | T | 4 | a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0004g0017 others(1): Show |
4 | HG01109.hp2 HG01433.hp1 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.814+1481G>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 7/11 | chr17 | 18338562 | |||||||
chr17:18338610 | G | A | 5 | a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 others(2): Show |
5 | HG01070.hp1 HG01261.hp1 HG02074.hp2 others(2): Show |
intron_variant | MODIFIER | c.814+1433C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 7/11 | chr17 | 18338610 | |||||||
chr17:18338723 | C | A | 18 | a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 others(15): Show |
18 | HG00642.hp1 HG02109.hp1 HG02135.hp1 others(15): Show |
intron_variant | MODIFIER | c.814+1320G>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 7/11 | chr17 | 18338723 | |||||||
chr17:18338767 | A | C | 50 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(47): Show |
66 | HG00438.hp1 HG00639.hp1 HG01070.hp2 others(63): Show |
intron_variant | MODIFIER | c.814+1276T>G | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 7/11 | chr17 | 18338767 | |||||||
chr17:18339049 | T | TA | 16 | a0001c0001t0001g0073 a0001c0001t0001g0095 a0001c0001t0001g0103 others(13): Show |
16 | HG00438.hp2 HG00642.hp1 HG01891.hp2 others(13): Show |
intron_variant | MODIFIER | c.814+993dupT | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 7/11 | chr17 | 18339049 | |||||||
chr17:18339049 | T | TAA | 6 | a0001c0001t0001g0091 a0001c0001t0001g0146 a0001c0001t0003g0051 others(3): Show |
6 | HG02074.hp1 HG02109.hp1 HG02630.hp2 others(3): Show |
intron_variant | MODIFIER | c.814+992_814+993dup others(2): Show |
SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 7/11 | chr17 | 18339049 | |||||||
chr17:18339049 | TA | T | 46 | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0019 others(43): Show |
49 | HG00544.hp2 HG00639.hp2 HG01081.hp2 others(46): Show |
intron_variant | MODIFIER | c.814+993delT | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 7/11 | chr17 | 18339049 | |||||||
chr17:18339049 | TAA | T | 74 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(71): Show |
91 | HG00438.hp1 HG00544.hp1 HG00639.hp1 others(88): Show |
intron_variant | MODIFIER | c.814+992_814+993del others(2): Show |
SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 7/11 | chr17 | 18339049 | |||||||
chr17:18339049 | TAAA | T | 8 | a0001c0001t0001g0011 a0001c0001t0001g0126 a0001c0001t0001g0131 others(5): Show |
9 | HG01943.hp1 HG02698.hp1 HG02698.hp2 others(6): Show |
intron_variant | MODIFIER | c.814+991_814+993del others(3): Show |
SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 7/11 | chr17 | 18339049 | |||||||
chr17:18339049 | TAAAAAAA others(6): Show |
T | 1 | a0001c0001t0001g0121 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.814+981_814+993del others(13): Show |
SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 7/11 | chr17 | 18339049 | |||||||
chr17:18339049 | TAAAAAAA others(9): Show |
T | 1 | a0001c0003t0003g0186 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.814+978_814+993del others(16): Show |
SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 7/11 | chr17 | 18339049 | |||||||
chr17:18339051 | A | T | 1 | a0001c0001t0001g0122 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.814+992T>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 7/11 | chr17 | 18339051 | |||||||
chr17:18339129 | C | T | 18 | a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 others(15): Show |
18 | HG00642.hp1 HG02109.hp1 HG02135.hp1 others(15): Show |
intron_variant | MODIFIER | c.814+914G>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 7/11 | chr17 | 18339129 | |||||||
chr17:18339489 | C | G | 1 | a0001c0001t0008g0074 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.814+554G>C | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 7/11 | chr17 | 18339489 | |||||||
chr17:18339528 | G | T | 1 | a0001c0001t0001g0122 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.814+515C>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 7/11 | chr17 | 18339528 | |||||||
chr17:18339565 | CT | C | 5 | a0001c0001t0001g0011 a0001c0001t0001g0065 a0001c0001t0001g0131 others(2): Show |
6 | HG01891.hp2 HG02698.hp1 HG02698.hp2 others(3): Show |
intron_variant | MODIFIER | c.814+477delA | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 7/11 | chr17 | 18339565 | |||||||
chr17:18339583 | C | T | 57 | a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 others(54): Show |
59 | HG00544.hp1 HG00642.hp1 HG01081.hp1 others(56): Show |
intron_variant | MODIFIER | c.814+460G>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 7/11 | chr17 | 18339583 | |||||||
chr17:18339748 | G | A | 5 | a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 others(2): Show |
5 | HG01070.hp1 HG01261.hp1 HG02074.hp2 others(2): Show |
intron_variant | MODIFIER | c.814+295C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 7/11 | chr17 | 18339748 | |||||||
chr17:18339860 | G | A | 1 | a0001c0001t0001g0088 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.814+183C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 7/11 | chr17 | 18339860 | |||||||
chr17:18340324 | G | A | 9 | a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 others(6): Show |
9 | HG00642.hp1 HG02109.hp1 HG02145.hp2 others(6): Show |
intron_variant | MODIFIER | c.602-69C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 6/11 | chr17 | 18340324 | |||||||
chr17:18340558 | G | A | 50 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(47): Show |
66 | HG00438.hp1 HG00639.hp1 HG01070.hp2 others(63): Show |
intron_variant | MODIFIER | c.601+174C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 6/11 | chr17 | 18340558 | |||||||
chr17:18340559 | C | T | 50 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(47): Show |
66 | HG00438.hp1 HG00639.hp1 HG01070.hp2 others(63): Show |
intron_variant | MODIFIER | c.601+173G>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 6/11 | chr17 | 18340559 | |||||||
chr17:18340717 | C | T | 1 | a0004c0006t0003g0191 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.601+15G>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 6/11 | chr17 | 18340717 | |||||||
chr17:18340979 | C | G | 9 | a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 others(6): Show |
9 | HG00642.hp1 HG02109.hp1 HG02145.hp2 others(6): Show |
intron_variant | MODIFIER | c.520-166G>C | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 5/11 | chr17 | 18340979 | |||||||
chr17:18341153 | G | GA | 5 | a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 others(2): Show |
5 | HG01070.hp1 HG01261.hp1 HG02074.hp2 others(2): Show |
intron_variant | MODIFIER | c.520-341_520-340ins others(1): Show |
SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 5/11 | chr17 | 18341153 | |||||||
chr17:18341211 | A | G | 1 | a0002c0002t0002g0024 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.520-398T>C | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 5/11 | chr17 | 18341211 | |||||||
chr17:18341299 | T | C | 50 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(47): Show |
66 | HG00438.hp1 HG00639.hp1 HG01070.hp2 others(63): Show |
intron_variant | MODIFIER | c.520-486A>G | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 5/11 | chr17 | 18341299 | |||||||
chr17:18341369 | G | A | 8 | a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 others(5): Show |
8 | HG00642.hp1 HG02109.hp1 HG02615.hp2 others(5): Show |
intron_variant | MODIFIER | c.520-556C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 5/11 | chr17 | 18341369 | |||||||
chr17:18341395 | C | T | 1 | a0001c0001t0001g0123 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.520-582G>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 5/11 | chr17 | 18341395 | |||||||
chr17:18341456 | C | T | 62 | a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 others(59): Show |
64 | HG00544.hp1 HG00642.hp1 HG01070.hp1 others(61): Show |
intron_variant | MODIFIER | c.520-643G>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 5/11 | chr17 | 18341456 | |||||||
chr17:18341468 | G | A | 1 | a0001c0001t0001g0096 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.520-655C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 5/11 | chr17 | 18341468 | |||||||
chr17:18341500 | T | C | 64 | a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 others(61): Show |
66 | HG00544.hp1 HG00642.hp1 HG01070.hp1 others(63): Show |
intron_variant | MODIFIER | c.520-687A>G | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 5/11 | chr17 | 18341500 | |||||||
chr17:18341512 | C | T | 3 | a0001c0001t0001g0086 a0001c0001t0001g0112 a0001c0001t0001g0113 |
3 | HG00544.hp2 HG01978.hp2 NA19009.hp2 |
intron_variant | MODIFIER | c.520-699G>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 5/11 | chr17 | 18341512 | |||||||
chr17:18341647 | G | GA | 20 | a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 others(17): Show |
20 | HG01070.hp1 HG01256.hp2 HG01261.hp1 others(17): Show |
intron_variant | MODIFIER | c.520-835dupT | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 5/11 | chr17 | 18341647 | |||||||
chr17:18341647 | G | GAA | 64 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(61): Show |
80 | HG00438.hp1 HG00639.hp1 HG00642.hp1 others(77): Show |
intron_variant | MODIFIER | c.520-836_520-835dup others(2): Show |
SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 5/11 | chr17 | 18341647 | |||||||
chr17:18341823 | G | A | 1 | a0001c0001t0001g0099 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.520-1010C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 5/11 | chr17 | 18341823 | |||||||
chr17:18341985 | G | A | 1 | a0001c0003t0003g0189 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.520-1172C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 5/11 | chr17 | 18341985 | |||||||
chr17:18342289 | C | G | 23 | a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 others(20): Show |
23 | HG00642.hp1 HG01070.hp1 HG01261.hp1 others(20): Show |
intron_variant | MODIFIER | c.520-1476G>C | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 5/11 | chr17 | 18342289 | |||||||
chr17:18342377 | T | C | 23 | a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 others(20): Show |
23 | HG00642.hp1 HG01070.hp1 HG01261.hp1 others(20): Show |
intron_variant | MODIFIER | c.520-1564A>G | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 5/11 | chr17 | 18342377 | |||||||
chr17:18342402 | T | C | 2 | a0001c0001t0001g0010 a0001c0001t0001g0133 |
3 | HG02109.hp2 HG02451.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.520-1589A>G | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 5/11 | chr17 | 18342402 | |||||||
chr17:18342702 | G | A | 1 | a0002c0002t0002g0037 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.520-1889C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 5/11 | chr17 | 18342702 | |||||||
chr17:18342837 | G | A | 1 | a0001c0001t0003g0057 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.520-2024C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 5/11 | chr17 | 18342837 | |||||||
chr17:18342956 | G | GAATA | 7 | a0001c0003t0003g0185 a0001c0003t0003g0186 a0001c0003t0003g0187 others(4): Show |
7 | HG02622.hp1 HG02895.hp1 HG03195.hp1 others(4): Show |
intron_variant | MODIFIER | c.520-2147_520-2144d others(6): Show |
SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 5/11 | chr17 | 18342956 | |||||||
chr17:18343082 | A | G | 1 | a0001c0001t0001g0121 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.520-2269T>C | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 5/11 | chr17 | 18343082 | |||||||
chr17:18343570 | T | G | 2 | a0003c0004t0003g0152 a0003c0004t0003g0153 |
2 | HG02135.hp1 HG02630.hp2 |
intron_variant | MODIFIER | c.520-2757A>C | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 5/11 | chr17 | 18343570 | |||||||
chr17:18343587 | G | A | 2 | a0003c0004t0003g0152 a0003c0004t0003g0153 |
2 | HG02135.hp1 HG02630.hp2 |
intron_variant | MODIFIER | c.520-2774C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 5/11 | chr17 | 18343587 | |||||||
chr17:18343608 | C | CA | 33 | a0001c0001t0001g0010 a0001c0001t0001g0069 a0001c0001t0001g0077 others(30): Show |
36 | HG00544.hp1 HG01081.hp1 HG01106.hp2 others(33): Show |
intron_variant | MODIFIER | c.520-2796dupT | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 5/11 | chr17 | 18343608 | |||||||
chr17:18343608 | C | CAA | 7 | a0001c0001t0001g0138 a0002c0002t0002g0022 a0002c0002t0002g0037 others(4): Show |
7 | HG01261.hp2 HG01952.hp1 HG03831.hp2 others(4): Show |
intron_variant | MODIFIER | c.520-2797_520-2796d others(4): Show |
SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 5/11 | chr17 | 18343608 | |||||||
chr17:18343619 | AAAAAAAA others(6): Show |
A | 2 | a0002c0002t0005g0193 a0002c0002t0005g0194 |
2 | HG02055.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.520-2819_520-2807d others(15): Show |
SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 5/11 | chr17 | 18343619 | |||||||
chr17:18343622 | AAAAAAAA others(3): Show |
A | 1 | a0002c0002t0002g0047 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.520-2819_520-2810d others(12): Show |
SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 5/11 | chr17 | 18343622 | |||||||
chr17:18343631 | AG | A | 14 | a0001c0001t0001g0006 a0001c0001t0001g0121 a0001c0001t0001g0127 others(11): Show |
14 | HG00642.hp1 HG01256.hp2 HG02109.hp1 others(11): Show |
intron_variant | MODIFIER | c.520-2819delC | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 5/11 | chr17 | 18343631 | |||||||
chr17:18343632 | G | A | 98 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(95): Show |
115 | HG00438.hp1 HG00544.hp1 HG00639.hp1 others(112): Show |
intron_variant | MODIFIER | c.520-2819C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 5/11 | chr17 | 18343632 | |||||||
chr17:18343647 | C | T | 1 | a0001c0001t0001g0102 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.520-2834G>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 5/11 | chr17 | 18343647 | |||||||
chr17:18343919 | T | TA | 36 | a0001c0001t0001g0110 a0001c0001t0001g0116 a0002c0002t0002g0003 others(33): Show |
38 | HG00544.hp1 HG01081.hp1 HG01106.hp2 others(35): Show |
intron_variant | MODIFIER | c.520-3107dupT | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 5/11 | chr17 | 18343919 | |||||||
chr17:18343919 | TA | T | 6 | a0001c0001t0001g0126 a0001c0001t0001g0136 a0001c0001t0001g0137 others(3): Show |
6 | HG01943.hp1 HG02015.hp2 NA18747.hp1 others(3): Show |
intron_variant | MODIFIER | c.520-3107delT | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 5/11 | chr17 | 18343919 | |||||||
chr17:18343966 | C | T | 39 | a0002c0002t0002g0003 a0002c0002t0002g0020 a0002c0002t0002g0021 others(36): Show |
41 | HG00544.hp1 HG01081.hp1 HG01106.hp2 others(38): Show |
intron_variant | MODIFIER | c.520-3153G>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 5/11 | chr17 | 18343966 | |||||||
chr17:18344048 | C | T | 39 | a0002c0002t0002g0003 a0002c0002t0002g0020 a0002c0002t0002g0021 others(36): Show |
41 | HG00544.hp1 HG01081.hp1 HG01106.hp2 others(38): Show |
intron_variant | MODIFIER | c.520-3235G>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 5/11 | chr17 | 18344048 | |||||||
chr17:18344111 | C | G | 6 | a0001c0003t0003g0185 a0001c0003t0003g0186 a0001c0003t0003g0187 others(3): Show |
6 | HG02622.hp1 HG02895.hp1 HG03195.hp1 others(3): Show |
intron_variant | MODIFIER | c.520-3298G>C | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 5/11 | chr17 | 18344111 | |||||||
chr17:18344186 | C | T | 6 | a0001c0003t0003g0185 a0001c0003t0003g0186 a0001c0003t0003g0187 others(3): Show |
6 | HG02622.hp1 HG02895.hp1 HG03195.hp1 others(3): Show |
intron_variant | MODIFIER | c.519+3310G>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 5/11 | chr17 | 18344186 | |||||||
chr17:18344300 | T | C | 1 | a0001c0001t0001g0104 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.519+3196A>G | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 5/11 | chr17 | 18344300 | |||||||
chr17:18344332 | G | A | 1 | a0001c0001t0001g0146 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.519+3164C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 5/11 | chr17 | 18344332 | |||||||
chr17:18344404 | C | T | 3 | a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0053 |
3 | HG02109.hp1 NA18906.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.519+3092G>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 5/11 | chr17 | 18344404 | |||||||
chr17:18344576 | GGAA | G | 6 | a0001c0003t0003g0185 a0001c0003t0003g0186 a0001c0003t0003g0187 others(3): Show |
6 | HG02622.hp1 HG02895.hp1 HG03195.hp1 others(3): Show |
intron_variant | MODIFIER | c.519+2917_519+2919d others(5): Show |
SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 5/11 | chr17 | 18344576 | |||||||
chr17:18344577 | G | GA | 17 | a0001c0001t0001g0009 a0001c0001t0001g0061 a0001c0001t0001g0068 others(14): Show |
18 | HG00438.hp2 HG00544.hp2 HG01070.hp1 others(15): Show |
intron_variant | MODIFIER | c.519+2918dupT | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 5/11 | chr17 | 18344577 | |||||||
chr17:18344577 | G | GAA | 33 | a0001c0001t0001g0069 a0001c0001t0001g0086 a0001c0001t0001g0179 others(30): Show |
35 | HG00544.hp1 HG01081.hp1 HG01106.hp2 others(32): Show |
intron_variant | MODIFIER | c.519+2917_519+2918d others(4): Show |
SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 5/11 | chr17 | 18344577 | |||||||
chr17:18344577 | G | GAAA | 57 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(54): Show |
69 | HG00639.hp1 HG00642.hp1 HG01070.hp2 others(66): Show |
intron_variant | MODIFIER | c.519+2916_519+2918d others(5): Show |
SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 5/11 | chr17 | 18344577 | |||||||
chr17:18344577 | G | GAAAA | 15 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0013 others(12): Show |
16 | HG00438.hp1 HG02074.hp1 HG02109.hp2 others(13): Show |
intron_variant | MODIFIER | c.519+2915_519+2918d others(6): Show |
SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 5/11 | chr17 | 18344577 | |||||||
chr17:18344707 | T | C | 70 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(67): Show |
86 | HG00438.hp1 HG00639.hp1 HG00642.hp1 others(83): Show |
intron_variant | MODIFIER | c.519+2789A>G | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 5/11 | chr17 | 18344707 | |||||||
chr17:18344925 | G | A | 1 | a0001c0001t0001g0097 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.519+2571C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 5/11 | chr17 | 18344925 | |||||||
chr17:18345406 | C | T | 2 | a0001c0001t0007g0058 a0001c0001t0007g0059 |
2 | HG01891.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.519+2090G>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 5/11 | chr17 | 18345406 | |||||||
chr17:18345568 | G | A | 9 | a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 others(6): Show |
9 | HG00642.hp1 HG02109.hp1 HG02145.hp2 others(6): Show |
intron_variant | MODIFIER | c.519+1928C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 5/11 | chr17 | 18345568 | |||||||
chr17:18345618 | G | A | 1 | a0001c0001t0001g0177 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.519+1878C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 5/11 | chr17 | 18345618 | |||||||
chr17:18345678 | CTTAT | C | 6 | a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 others(3): Show |
6 | HG01070.hp1 HG01261.hp1 HG02074.hp2 others(3): Show |
intron_variant | MODIFIER | c.519+1814_519+1817d others(6): Show |
SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 5/11 | chr17 | 18345678 | |||||||
chr17:18345720 | G | A | 6 | a0001c0003t0003g0185 a0001c0003t0003g0186 a0001c0003t0003g0187 others(3): Show |
6 | HG02622.hp1 HG02895.hp1 HG03195.hp1 others(3): Show |
intron_variant | MODIFIER | c.519+1776C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 5/11 | chr17 | 18345720 | |||||||
chr17:18345801 | C | G | 2 | a0002c0002t0002g0036 a0002c0002t0002g0039 |
2 | HG03831.hp2 NA18612.hp2 |
intron_variant | MODIFIER | c.519+1695G>C | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 5/11 | chr17 | 18345801 | |||||||
chr17:18345901 | C | T | 1 | a0001c0001t0001g0019 | 1 | NA18986.hp2 | intron_variant | MODIFIER | c.519+1595G>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 5/11 | chr17 | 18345901 | |||||||
chr17:18345947 | G | T | 2 | a0001c0001t0008g0074 a0001c0001t0008g0184 |
2 | HG01175.hp2 HG02738.hp1 |
intron_variant | MODIFIER | c.519+1549C>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 5/11 | chr17 | 18345947 | |||||||
chr17:18346132 | C | T | 12 | a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 others(9): Show |
12 | HG00642.hp1 HG02109.hp1 HG02135.hp1 others(9): Show |
intron_variant | MODIFIER | c.519+1364G>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 5/11 | chr17 | 18346132 | |||||||
chr17:18346297 | G | A | 6 | a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 others(3): Show |
6 | HG01070.hp1 HG01261.hp1 HG02074.hp2 others(3): Show |
intron_variant | MODIFIER | c.519+1199C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 5/11 | chr17 | 18346297 | |||||||
chr17:18346700 | A | C | 1 | a0001c0001t0001g0090 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.519+796T>G | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 5/11 | chr17 | 18346700 | |||||||
chr17:18346879 | T | C | 6 | a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 others(3): Show |
6 | HG01070.hp1 HG01261.hp1 HG02074.hp2 others(3): Show |
intron_variant | MODIFIER | c.519+617A>G | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 5/11 | chr17 | 18346879 | |||||||
chr17:18346930 | C | T | 1 | a0001c0001t0001g0019 | 1 | NA18986.hp2 | intron_variant | MODIFIER | c.519+566G>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 5/11 | chr17 | 18346930 | |||||||
chr17:18347085 | A | C | 62 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(59): Show |
78 | HG00438.hp1 HG00639.hp1 HG00642.hp1 others(75): Show |
intron_variant | MODIFIER | c.519+411T>G | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 5/11 | chr17 | 18347085 | |||||||
chr17:18347140 | G | A | 2 | a0001c0001t0001g0010 a0001c0001t0001g0133 |
3 | HG02109.hp2 HG02451.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.519+356C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 5/11 | chr17 | 18347140 | |||||||
chr17:18347141 | G | A | 9 | a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 others(6): Show |
9 | HG00642.hp1 HG02109.hp1 HG02145.hp2 others(6): Show |
intron_variant | MODIFIER | c.519+355C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 5/11 | chr17 | 18347141 | |||||||
chr17:18347213 | C | T | 76 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(73): Show |
92 | HG00438.hp1 HG00639.hp1 HG00642.hp1 others(89): Show |
intron_variant | MODIFIER | c.519+283G>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 5/11 | chr17 | 18347213 | |||||||
chr17:18347359 | C | T | 1 | a0002c0002t0002g0027 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.519+137G>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 5/11 | chr17 | 18347359 | |||||||
chr17:18347707 | A | G | 1 | a0001c0001t0001g0099 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.359-51T>C | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 4/11 | chr17 | 18347707 | |||||||
chr17:18347780 | C | T | 8 | a0001c0001t0007g0058 a0001c0001t0007g0059 a0001c0003t0003g0185 others(5): Show |
8 | HG01891.hp2 HG02622.hp1 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.359-124G>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 4/11 | chr17 | 18347780 | |||||||
chr17:18347914 | G | GT | 14 | a0001c0001t0001g0070 a0001c0001t0001g0077 a0001c0001t0001g0092 others(11): Show |
14 | HG01175.hp1 HG01175.hp2 HG01243.hp1 others(11): Show |
intron_variant | MODIFIER | c.359-259dupA | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 4/11 | chr17 | 18347914 | |||||||
chr17:18347918 | T | G | 12 | a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 others(9): Show |
12 | HG00642.hp1 HG02109.hp1 HG02135.hp1 others(9): Show |
intron_variant | MODIFIER | c.359-262A>C | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 4/11 | chr17 | 18347918 | |||||||
chr17:18347922 | T | G | 49 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(46): Show |
65 | HG00438.hp1 HG00639.hp1 HG01070.hp2 others(62): Show |
intron_variant | MODIFIER | c.359-266A>C | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 4/11 | chr17 | 18347922 | |||||||
chr17:18347995 | A | G | 1 | a0001c0001t0001g0073 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.358+330T>C | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 4/11 | chr17 | 18347995 | |||||||
chr17:18348041 | C | A | 1 | a0001c0001t0001g0110 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.358+284G>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 4/11 | chr17 | 18348041 | |||||||
chr17:18348495 | T | G | 9 | a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 others(6): Show |
9 | HG00642.hp1 HG02109.hp1 HG02145.hp2 others(6): Show |
intron_variant | MODIFIER | c.243-55A>C | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 3/11 | chr17 | 18348495 | |||||||
chr17:18348696 | T | C | 76 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(73): Show |
92 | HG00438.hp1 HG00639.hp1 HG00642.hp1 others(89): Show |
intron_variant | MODIFIER | c.243-256A>G | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 3/11 | chr17 | 18348696 | |||||||
chr17:18348918 | G | A | 6 | a0001c0003t0003g0185 a0001c0003t0003g0186 a0001c0003t0003g0187 others(3): Show |
6 | HG02622.hp1 HG02895.hp1 HG03195.hp1 others(3): Show |
intron_variant | MODIFIER | c.243-478C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 3/11 | chr17 | 18348918 | |||||||
chr17:18348989 | G | GA | 6 | a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 others(3): Show |
6 | HG01070.hp1 HG01261.hp1 HG02074.hp2 others(3): Show |
intron_variant | MODIFIER | c.243-550dupT | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 3/11 | chr17 | 18348989 | |||||||
chr17:18349098 | T | C | 2 | a0001c0001t0001g0063 a0001c0001t0001g0108 |
2 | NA18963.hp1 NA19090.hp1 |
intron_variant | MODIFIER | c.243-658A>G | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 3/11 | chr17 | 18349098 | |||||||
chr17:18349313 | G | A | 6 | a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 others(3): Show |
6 | HG01070.hp1 HG01261.hp1 HG02074.hp2 others(3): Show |
intron_variant | MODIFIER | c.243-873C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 3/11 | chr17 | 18349313 | |||||||
chr17:18349375 | G | A | 2 | a0001c0001t0007g0058 a0001c0001t0007g0059 |
2 | HG01891.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.243-935C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 3/11 | chr17 | 18349375 | |||||||
chr17:18349430 | T | G | 1 | a0001c0001t0001g0146 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.243-990A>C | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 3/11 | chr17 | 18349430 | |||||||
chr17:18349451 | G | C | 2 | a0001c0001t0001g0114 a0001c0001t0001g0115 |
2 | HG02738.hp2 HG03834.hp1 |
intron_variant | MODIFIER | c.243-1011C>G | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 3/11 | chr17 | 18349451 | |||||||
chr17:18349554 | C | G | 62 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(59): Show |
78 | HG00438.hp1 HG00639.hp1 HG00642.hp1 others(75): Show |
intron_variant | MODIFIER | c.243-1114G>C | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 3/11 | chr17 | 18349554 | |||||||
chr17:18349597 | T | C | 62 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(59): Show |
78 | HG00438.hp1 HG00639.hp1 HG00642.hp1 others(75): Show |
intron_variant | MODIFIER | c.243-1157A>G | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 3/11 | chr17 | 18349597 | |||||||
chr17:18349711 | C | T | 4 | a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0031 others(1): Show |
4 | HG01243.hp2 HG01515.hp1 HG02280.hp2 others(1): Show |
intron_variant | MODIFIER | c.243-1271G>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 3/11 | chr17 | 18349711 | |||||||
chr17:18349715 | A | T | 115 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(112): Show |
133 | HG00438.hp1 HG00544.hp1 HG00639.hp1 others(130): Show |
intron_variant | MODIFIER | c.243-1275T>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 3/11 | chr17 | 18349715 | |||||||
chr17:18349728 | T | TA | 6 | a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 others(3): Show |
6 | HG01070.hp1 HG01261.hp1 HG02074.hp2 others(3): Show |
intron_variant | MODIFIER | c.243-1289dupT | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 3/11 | chr17 | 18349728 | |||||||
chr17:18349744 | G | A | 12 | a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 others(9): Show |
12 | HG00642.hp1 HG02109.hp1 HG02135.hp1 others(9): Show |
intron_variant | MODIFIER | c.243-1304C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 3/11 | chr17 | 18349744 | |||||||
chr17:18349960 | C | T | 39 | a0002c0002t0002g0003 a0002c0002t0002g0020 a0002c0002t0002g0021 others(36): Show |
41 | HG00544.hp1 HG01081.hp1 HG01106.hp2 others(38): Show |
intron_variant | MODIFIER | c.243-1520G>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 3/11 | chr17 | 18349960 | |||||||
chr17:18349961 | G | A | 6 | a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 others(3): Show |
6 | HG01070.hp1 HG01261.hp1 HG02074.hp2 others(3): Show |
intron_variant | MODIFIER | c.243-1521C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 3/11 | chr17 | 18349961 | |||||||
chr17:18350011 | ACT | A | 39 | a0002c0002t0002g0003 a0002c0002t0002g0020 a0002c0002t0002g0021 others(36): Show |
41 | HG00544.hp1 HG01081.hp1 HG01106.hp2 others(38): Show |
intron_variant | MODIFIER | c.243-1573_243-1572d others(4): Show |
SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 3/11 | chr17 | 18350011 | |||||||
chr17:18350248 | G | A | 4 | a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 others(1): Show |
4 | HG02109.hp1 HG03195.hp2 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.243-1808C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 3/11 | chr17 | 18350248 | |||||||
chr17:18350258 | G | A | 2 | a0001c0003t0003g0185 a0001c0003t0003g0188 |
2 | HG02622.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.243-1818C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 3/11 | chr17 | 18350258 | |||||||
chr17:18350290 | C | T | 62 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(59): Show |
78 | HG00438.hp1 HG00639.hp1 HG00642.hp1 others(75): Show |
intron_variant | MODIFIER | c.243-1850G>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 3/11 | chr17 | 18350290 | |||||||
chr17:18350294 | G | A | 6 | a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 others(3): Show |
6 | HG01070.hp1 HG01261.hp1 HG02074.hp2 others(3): Show |
intron_variant | MODIFIER | c.243-1854C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 3/11 | chr17 | 18350294 | |||||||
chr17:18350508 | C | T | 62 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(59): Show |
78 | HG00438.hp1 HG00639.hp1 HG00642.hp1 others(75): Show |
intron_variant | MODIFIER | c.243-2068G>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 3/11 | chr17 | 18350508 | |||||||
chr17:18350525 | C | T | 12 | a0001c0001t0001g0002 a0001c0001t0001g0065 a0001c0001t0001g0120 others(9): Show |
15 | HG00639.hp1 HG01109.hp1 HG01256.hp2 others(12): Show |
intron_variant | MODIFIER | c.243-2085G>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 3/11 | chr17 | 18350525 | |||||||
chr17:18350729 | C | T | 6 | a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 others(3): Show |
6 | HG01070.hp1 HG01261.hp1 HG02074.hp2 others(3): Show |
intron_variant | MODIFIER | c.243-2289G>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 3/11 | chr17 | 18350729 | |||||||
chr17:18350796 | G | A | 39 | a0002c0002t0002g0003 a0002c0002t0002g0020 a0002c0002t0002g0021 others(36): Show |
41 | HG00544.hp1 HG01081.hp1 HG01106.hp2 others(38): Show |
intron_variant | MODIFIER | c.243-2356C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 3/11 | chr17 | 18350796 | |||||||
chr17:18350862 | A | G | 1 | a0001c0001t0001g0135 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.243-2422T>C | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 3/11 | chr17 | 18350862 | |||||||
chr17:18351035 | T | C | 2 | a0001c0001t0001g0112 a0001c0001t0001g0113 |
2 | HG00544.hp2 NA19009.hp2 |
intron_variant | MODIFIER | c.243-2595A>G | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 3/11 | chr17 | 18351035 | |||||||
chr17:18351166 | G | A | 2 | a0003c0004t0003g0152 a0003c0004t0003g0153 |
2 | HG02135.hp1 HG02630.hp2 |
intron_variant | MODIFIER | c.242+2506C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 3/11 | chr17 | 18351166 | |||||||
chr17:18351286 | G | A | 1 | a0001c0001t0001g0065 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.242+2386C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 3/11 | chr17 | 18351286 | |||||||
chr17:18351314 | T | G | 1 | a0001c0001t0001g0157 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.242+2358A>C | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 3/11 | chr17 | 18351314 | |||||||
chr17:18351315 | G | T | 1 | a0001c0001t0001g0157 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.242+2357C>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 3/11 | chr17 | 18351315 | |||||||
chr17:18351316 | T | A | 1 | a0001c0001t0001g0157 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.242+2356A>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 3/11 | chr17 | 18351316 | |||||||
chr17:18351416 | A | G | 76 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(73): Show |
92 | HG00438.hp1 HG00639.hp1 HG00642.hp1 others(89): Show |
intron_variant | MODIFIER | c.242+2256T>C | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 3/11 | chr17 | 18351416 | |||||||
chr17:18351436 | A | G | 6 | a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 others(3): Show |
6 | HG01070.hp1 HG01261.hp1 HG02074.hp2 others(3): Show |
intron_variant | MODIFIER | c.242+2236T>C | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 3/11 | chr17 | 18351436 | |||||||
chr17:18351533 | C | T | 1 | a0001c0001t0001g0177 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.242+2139G>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 3/11 | chr17 | 18351533 | |||||||
chr17:18351585 | C | T | 1 | a0001c0001t0001g0079 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.242+2087G>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 3/11 | chr17 | 18351585 | |||||||
chr17:18351629 | T | C | 7 | a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0177 others(4): Show |
7 | HG00642.hp2 HG01975.hp2 HG01978.hp1 others(4): Show |
intron_variant | MODIFIER | c.242+2043A>G | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 3/11 | chr17 | 18351629 | |||||||
chr17:18351645 | G | A | 1 | a0002c0002t0005g0192 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.242+2027C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 3/11 | chr17 | 18351645 | |||||||
chr17:18351706 | G | A | 1 | a0001c0001t0001g0161 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.242+1966C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 3/11 | chr17 | 18351706 | |||||||
chr17:18351765 | T | G | 62 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(59): Show |
78 | HG00438.hp1 HG00639.hp1 HG00642.hp1 others(75): Show |
intron_variant | MODIFIER | c.242+1907A>C | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 3/11 | chr17 | 18351765 | |||||||
chr17:18351844 | G | C | 1 | a0001c0001t0001g0157 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.242+1828C>G | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 3/11 | chr17 | 18351844 | |||||||
chr17:18351848 | T | G | 1 | a0001c0001t0001g0157 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.242+1824A>C | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 3/11 | chr17 | 18351848 | |||||||
chr17:18351855 | T | A | 1 | a0001c0001t0001g0109 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.242+1817A>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 3/11 | chr17 | 18351855 | |||||||
chr17:18352136 | C | A | 7 | a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0013 others(4): Show |
11 | HG01070.hp2 HG02280.hp1 HG02451.hp2 others(8): Show |
intron_variant | MODIFIER | c.242+1536G>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 3/11 | chr17 | 18352136 | |||||||
chr17:18352150 | C | CTTT | 19 | a0001c0001t0001g0010 a0001c0001t0001g0133 a0001c0001t0003g0050 others(16): Show |
20 | HG00642.hp1 HG02109.hp1 HG02109.hp2 others(17): Show |
intron_variant | MODIFIER | c.242+1519_242+1521d others(5): Show |
SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 3/11 | chr17 | 18352150 | |||||||
chr17:18352150 | C | CTTTT | 49 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(46): Show |
64 | HG00438.hp1 HG00639.hp1 HG01070.hp2 others(61): Show |
intron_variant | MODIFIER | c.242+1518_242+1521d others(6): Show |
SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 3/11 | chr17 | 18352150 | |||||||
chr17:18352150 | C | CTTTTT | 44 | a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 others(41): Show |
46 | HG00544.hp1 HG01070.hp1 HG01081.hp1 others(43): Show |
intron_variant | MODIFIER | c.242+1517_242+1521d others(7): Show |
SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 3/11 | chr17 | 18352150 | |||||||
chr17:18352150 | C | T | 1 | a0001c0001t0001g0157 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.242+1522G>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 3/11 | chr17 | 18352150 | |||||||
chr17:18352174 | G | A | 1 | a0001c0001t0003g0057 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.242+1498C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 3/11 | chr17 | 18352174 | |||||||
chr17:18352184 | C | T | 50 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(47): Show |
66 | HG00438.hp1 HG00639.hp1 HG01070.hp2 others(63): Show |
intron_variant | MODIFIER | c.242+1488G>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 3/11 | chr17 | 18352184 | |||||||
chr17:18352215 | G | A | 6 | a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 others(3): Show |
6 | HG01070.hp1 HG01261.hp1 HG02074.hp2 others(3): Show |
intron_variant | MODIFIER | c.242+1457C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 3/11 | chr17 | 18352215 | |||||||
chr17:18352252 | T | G | 80 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(77): Show |
97 | HG00438.hp1 HG00544.hp2 HG00639.hp1 others(94): Show |
intron_variant | MODIFIER | c.242+1420A>C | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 3/11 | chr17 | 18352252 | |||||||
chr17:18352261 | A | C | 134 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(131): Show |
153 | HG00438.hp1 HG00544.hp1 HG00544.hp2 others(150): Show |
intron_variant | MODIFIER | c.242+1411T>G | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 3/11 | chr17 | 18352261 | |||||||
chr17:18352337 | G | A | 1 | a0001c0001t0001g0105 | 1 | NA18944.hp2 | intron_variant | MODIFIER | c.242+1335C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 3/11 | chr17 | 18352337 | |||||||
chr17:18352885 | A | G | 6 | a0001c0003t0003g0185 a0001c0003t0003g0186 a0001c0003t0003g0187 others(3): Show |
6 | HG02622.hp1 HG02895.hp1 HG03195.hp1 others(3): Show |
intron_variant | MODIFIER | c.242+787T>C | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 3/11 | chr17 | 18352885 | |||||||
chr17:18353189 | CTG | C | 50 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(47): Show |
66 | HG00438.hp1 HG00639.hp1 HG01070.hp2 others(63): Show |
intron_variant | MODIFIER | c.242+481_242+482del others(2): Show |
SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 3/11 | chr17 | 18353189 | |||||||
chr17:18353662 | A | G | 2 | a0001c0001t0007g0058 a0001c0001t0007g0059 |
2 | HG01891.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.242+10T>C | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 3/11 | chr17 | 18353662 | |||||||
chr17:18353665 | C | T | 6 | a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 others(3): Show |
6 | HG01070.hp1 HG01261.hp1 HG02074.hp2 others(3): Show |
splice_region_variant&intron_variant | LOW | c.242+7G>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 3/11 | chr17 | 18353665 | |||||||
chr17:18353923 | T | C | 1 | a0001c0001t0001g0098 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.97-106A>G | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 2/11 | chr17 | 18353923 | |||||||
chr17:18354035 | C | A | 1 | a0004c0006t0003g0191 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.97-218G>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 2/11 | chr17 | 18354035 | |||||||
chr17:18354230 | T | C | 76 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(73): Show |
92 | HG00438.hp1 HG00639.hp1 HG00642.hp1 others(89): Show |
intron_variant | MODIFIER | c.97-413A>G | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 2/11 | chr17 | 18354230 | |||||||
chr17:18354275 | C | T | 48 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(45): Show |
63 | HG00438.hp1 HG00639.hp1 HG01070.hp2 others(60): Show |
intron_variant | MODIFIER | c.97-458G>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 2/11 | chr17 | 18354275 | |||||||
chr17:18354280 | A | G | 115 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(112): Show |
133 | HG00438.hp1 HG00544.hp1 HG00639.hp1 others(130): Show |
intron_variant | MODIFIER | c.97-463T>C | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 2/11 | chr17 | 18354280 | |||||||
chr17:18354334 | A | G | 115 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(112): Show |
133 | HG00438.hp1 HG00544.hp1 HG00639.hp1 others(130): Show |
intron_variant | MODIFIER | c.97-517T>C | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 2/11 | chr17 | 18354334 | |||||||
chr17:18354337 | T | A | 50 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(47): Show |
66 | HG00438.hp1 HG00639.hp1 HG01070.hp2 others(63): Show |
intron_variant | MODIFIER | c.97-520A>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 2/11 | chr17 | 18354337 | |||||||
chr17:18354433 | C | A | 2 | a0001c0001t0001g0081 a0001c0001t0001g0106 |
2 | HG01106.hp1 HG01515.hp2 |
intron_variant | MODIFIER | c.97-616G>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 2/11 | chr17 | 18354433 | |||||||
chr17:18354464 | C | CA | 8 | a0001c0001t0007g0058 a0001c0001t0007g0059 a0001c0003t0003g0185 others(5): Show |
8 | HG01891.hp2 HG02622.hp1 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.97-648dupT | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 2/11 | chr17 | 18354464 | |||||||
chr17:18354489 | G | A | 8 | a0001c0001t0007g0058 a0001c0001t0007g0059 a0001c0003t0003g0185 others(5): Show |
8 | HG01891.hp2 HG02622.hp1 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.97-672C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 2/11 | chr17 | 18354489 | |||||||
chr17:18354495 | C | T | 1 | a0001c0001t0001g0099 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.97-678G>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 2/11 | chr17 | 18354495 | |||||||
chr17:18354497 | G | A | 6 | a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 others(3): Show |
6 | HG01070.hp1 HG01261.hp1 HG02074.hp2 others(3): Show |
intron_variant | MODIFIER | c.97-680C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 2/11 | chr17 | 18354497 | |||||||
chr17:18354645 | C | T | 1 | a0004c0006t0003g0191 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.97-828G>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 2/11 | chr17 | 18354645 | |||||||
chr17:18354836 | A | G | 115 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(112): Show |
133 | HG00438.hp1 HG00544.hp1 HG00639.hp1 others(130): Show |
intron_variant | MODIFIER | c.97-1019T>C | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 2/11 | chr17 | 18354836 | |||||||
chr17:18354840 | T | C | 6 | a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 others(3): Show |
6 | HG01070.hp1 HG01261.hp1 HG02074.hp2 others(3): Show |
intron_variant | MODIFIER | c.97-1023A>G | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 2/11 | chr17 | 18354840 | |||||||
chr17:18354875 | T | TAA | 6 | a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 others(3): Show |
6 | HG01070.hp1 HG01261.hp1 HG02074.hp2 others(3): Show |
intron_variant | MODIFIER | c.96+1009_96+1010dup others(2): Show |
SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 2/11 | chr17 | 18354875 | |||||||
chr17:18354888 | AT | A | 3 | a0001c0001t0001g0125 a0001c0001t0001g0160 a0001c0003t0003g0190 |
3 | HG01070.hp2 HG02895.hp1 NA18959.hp2 |
intron_variant | MODIFIER | c.96+997delA | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 2/11 | chr17 | 18354888 | |||||||
chr17:18354889 | T | A | 100 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(97): Show |
118 | HG00438.hp1 HG00544.hp1 HG00639.hp1 others(115): Show |
intron_variant | MODIFIER | c.96+997A>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 2/11 | chr17 | 18354889 | |||||||
chr17:18354892 | T | A | 6 | a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 others(3): Show |
6 | HG01070.hp1 HG01261.hp1 HG02074.hp2 others(3): Show |
intron_variant | MODIFIER | c.96+994A>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 2/11 | chr17 | 18354892 | |||||||
chr17:18354894 | C | A | 6 | a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 others(3): Show |
6 | HG01070.hp1 HG01261.hp1 HG02074.hp2 others(3): Show |
intron_variant | MODIFIER | c.96+992G>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 2/11 | chr17 | 18354894 | |||||||
chr17:18355050 | C | CA | 33 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0063 others(30): Show |
37 | HG00438.hp2 HG00544.hp2 HG01106.hp1 others(34): Show |
intron_variant | MODIFIER | c.96+835dupT | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 2/11 | chr17 | 18355050 | |||||||
chr17:18355050 | C | CAA | 10 | a0001c0001t0001g0064 a0001c0001t0001g0077 a0001c0001t0001g0086 others(7): Show |
10 | HG01109.hp2 HG01346.hp1 HG01361.hp1 others(7): Show |
intron_variant | MODIFIER | c.96+834_96+835dupTT | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 2/11 | chr17 | 18355050 | |||||||
chr17:18355050 | CAAAAA | C | 5 | a0001c0001t0001g0069 a0002c0002t0002g0023 a0002c0002t0002g0032 others(2): Show |
5 | HG01261.hp1 HG02145.hp1 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.96+831_96+835delTT others(3): Show |
SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 2/11 | chr17 | 18355050 | |||||||
chr17:18355050 | CAAAAAAA others(6): Show |
C | 2 | a0001c0001t0001g0109 a0001c0001t0001g0157 |
2 | HG03942.hp2 NA18942.hp1 |
intron_variant | MODIFIER | c.96+823_96+835delTT others(11): Show |
SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 2/11 | chr17 | 18355050 | |||||||
chr17:18355050 | CAAAAAAA others(7): Show |
C | 5 | a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0154 others(2): Show |
5 | HG02074.hp1 HG02622.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.96+822_96+835delTT others(12): Show |
SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 2/11 | chr17 | 18355050 | |||||||
chr17:18355050 | CAAAAAAA others(8): Show |
C | 33 | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0014 others(30): Show |
41 | HG00438.hp1 HG01891.hp2 HG01943.hp1 others(38): Show |
intron_variant | MODIFIER | c.96+821_96+835delTT others(13): Show |
SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 2/11 | chr17 | 18355050 | |||||||
chr17:18355050 | CAAAAAAA others(9): Show |
C | 56 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0010 others(53): Show |
66 | HG00544.hp1 HG00639.hp1 HG01081.hp1 others(63): Show |
intron_variant | MODIFIER | c.96+820_96+835delTT others(14): Show |
SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 2/11 | chr17 | 18355050 | |||||||
chr17:18355050 | CAAAAAAA others(10): Show |
C | 2 | a0001c0001t0001g0160 a0001c0001t0001g0161 |
2 | HG01070.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.96+819_96+835delTT others(15): Show |
SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 2/11 | chr17 | 18355050 | |||||||
chr17:18355166 | G | A | 6 | a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 others(3): Show |
6 | HG01070.hp1 HG01261.hp1 HG02074.hp2 others(3): Show |
intron_variant | MODIFIER | c.96+720C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 2/11 | chr17 | 18355166 | |||||||
chr17:18355299 | G | A | 1 | a0001c0001t0001g0090 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.96+587C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 2/11 | chr17 | 18355299 | |||||||
chr17:18355369 | C | CA | 15 | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0068 others(12): Show |
15 | HG01070.hp1 HG01192.hp2 HG01261.hp1 others(12): Show |
intron_variant | MODIFIER | c.96+516dupT | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 2/11 | chr17 | 18355369 | |||||||
chr17:18355369 | C | CAA | 13 | a0001c0001t0001g0115 a0001c0001t0003g0050 a0001c0001t0003g0051 others(10): Show |
13 | HG00642.hp1 HG01891.hp2 HG02109.hp1 others(10): Show |
intron_variant | MODIFIER | c.96+515_96+516dupTT | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 2/11 | chr17 | 18355369 | |||||||
chr17:18355369 | CA | C | 7 | a0001c0001t0001g0091 a0001c0001t0001g0125 a0001c0001t0001g0126 others(4): Show |
7 | HG01081.hp1 HG01175.hp2 HG01943.hp1 others(4): Show |
intron_variant | MODIFIER | c.96+516delT | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 2/11 | chr17 | 18355369 | |||||||
chr17:18355369 | CAAA | C | 6 | a0001c0003t0003g0185 a0001c0003t0003g0186 a0001c0003t0003g0187 others(3): Show |
6 | HG02622.hp1 HG02895.hp1 HG03195.hp1 others(3): Show |
intron_variant | MODIFIER | c.96+514_96+516delTT others(1): Show |
SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 2/11 | chr17 | 18355369 | |||||||
chr17:18355384 | A | G | 3 | a0002c0002t0005g0192 a0002c0002t0005g0193 a0002c0002t0005g0194 |
3 | HG01361.hp2 HG02055.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.96+502T>C | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 2/11 | chr17 | 18355384 | |||||||
chr17:18355397 | G | A | 6 | a0001c0003t0003g0185 a0001c0003t0003g0186 a0001c0003t0003g0187 others(3): Show |
6 | HG02622.hp1 HG02895.hp1 HG03195.hp1 others(3): Show |
intron_variant | MODIFIER | c.96+489C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 2/11 | chr17 | 18355397 | |||||||
chr17:18355652 | T | TC | 6 | a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 others(3): Show |
6 | HG01070.hp1 HG01261.hp1 HG02074.hp2 others(3): Show |
intron_variant | MODIFIER | c.96+233dupG | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 2/11 | chr17 | 18355652 | |||||||
chr17:18355777 | C | T | 6 | a0001c0003t0003g0185 a0001c0003t0003g0186 a0001c0003t0003g0187 others(3): Show |
6 | HG02622.hp1 HG02895.hp1 HG03195.hp1 others(3): Show |
intron_variant | MODIFIER | c.96+109G>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 2/11 | chr17 | 18355777 | |||||||
chr17:18356019 | CAT | C | 6 | a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 others(3): Show |
6 | HG01070.hp1 HG01261.hp1 HG02074.hp2 others(3): Show |
intron_variant | MODIFIER | c.-19-21_-19-20delAT | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18356019 | |||||||
chr17:18356101 | A | G | 115 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(112): Show |
133 | HG00438.hp1 HG00544.hp1 HG00639.hp1 others(130): Show |
intron_variant | MODIFIER | c.-19-101T>C | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18356101 | |||||||
chr17:18356180 | C | A | 1 | a0004c0006t0003g0191 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-19-180G>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18356180 | |||||||
chr17:18356204 | G | A | 12 | a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 others(9): Show |
12 | HG00642.hp1 HG02109.hp1 HG02135.hp1 others(9): Show |
intron_variant | MODIFIER | c.-19-204C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18356204 | |||||||
chr17:18356284 | C | T | 6 | a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 others(3): Show |
6 | HG01070.hp1 HG01261.hp1 HG02074.hp2 others(3): Show |
intron_variant | MODIFIER | c.-19-284G>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18356284 | |||||||
chr17:18356473 | C | A | 1 | a0001c0001t0001g0149 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.-19-473G>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18356473 | |||||||
chr17:18356481 | G | A | 6 | a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 others(3): Show |
6 | HG01070.hp1 HG01261.hp1 HG02074.hp2 others(3): Show |
intron_variant | MODIFIER | c.-19-481C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18356481 | |||||||
chr17:18356566 | C | G | 62 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(59): Show |
78 | HG00438.hp1 HG00639.hp1 HG00642.hp1 others(75): Show |
intron_variant | MODIFIER | c.-19-566G>C | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18356566 | |||||||
chr17:18356686 | A | C | 6 | a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 others(3): Show |
6 | HG01070.hp1 HG01261.hp1 HG02074.hp2 others(3): Show |
intron_variant | MODIFIER | c.-19-686T>G | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18356686 | |||||||
chr17:18356765 | G | A | 1 | a0002c0002t0002g0038 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.-19-765C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18356765 | |||||||
chr17:18357174 | G | A | 39 | a0002c0002t0002g0003 a0002c0002t0002g0020 a0002c0002t0002g0021 others(36): Show |
41 | HG00544.hp1 HG01081.hp1 HG01106.hp2 others(38): Show |
intron_variant | MODIFIER | c.-19-1174C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18357174 | |||||||
chr17:18357279 | C | CA | 7 | a0001c0001t0001g0077 a0001c0001t0001g0109 a0001c0001t0001g0110 others(4): Show |
7 | HG01175.hp2 HG01361.hp1 HG02027.hp1 others(4): Show |
intron_variant | MODIFIER | c.-19-1280dupT | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18357279 | |||||||
chr17:18357279 | CA | C | 31 | a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0061 others(28): Show |
32 | HG00544.hp2 HG01243.hp1 HG01433.hp1 others(29): Show |
intron_variant | MODIFIER | c.-19-1280delT | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18357279 | |||||||
chr17:18357279 | CAA | C | 11 | a0001c0001t0001g0078 a0001c0001t0003g0050 a0001c0001t0003g0052 others(8): Show |
11 | HG00642.hp1 HG02109.hp1 HG02145.hp2 others(8): Show |
intron_variant | MODIFIER | c.-19-1281_-19-1280d others(4): Show |
SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18357279 | |||||||
chr17:18357279 | CAAA | C | 38 | a0001c0001t0003g0051 a0001c0001t0007g0058 a0001c0001t0007g0059 others(35): Show |
40 | HG00544.hp1 HG01192.hp2 HG01243.hp2 others(37): Show |
intron_variant | MODIFIER | c.-19-1282_-19-1280d others(5): Show |
SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18357279 | |||||||
chr17:18357279 | CAAAA | C | 13 | a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 others(10): Show |
13 | HG01070.hp1 HG01081.hp1 HG01106.hp2 others(10): Show |
intron_variant | MODIFIER | c.-19-1283_-19-1280d others(6): Show |
SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18357279 | |||||||
chr17:18357279 | CAAAAAAA others(7): Show |
C | 50 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(47): Show |
66 | HG00438.hp1 HG00639.hp1 HG01070.hp2 others(63): Show |
intron_variant | MODIFIER | c.-19-1293_-19-1280d others(16): Show |
SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18357279 | |||||||
chr17:18357439 | C | G | 39 | a0002c0002t0002g0003 a0002c0002t0002g0020 a0002c0002t0002g0021 others(36): Show |
41 | HG00544.hp1 HG01081.hp1 HG01106.hp2 others(38): Show |
intron_variant | MODIFIER | c.-19-1439G>C | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18357439 | |||||||
chr17:18357475 | C | T | 1 | a0001c0001t0001g0160 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.-19-1475G>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18357475 | |||||||
chr17:18357518 | T | C | 1 | a0001c0001t0001g0011 | 2 | HG02698.hp2 NA18950.hp2 |
intron_variant | MODIFIER | c.-19-1518A>G | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18357518 | |||||||
chr17:18357527 | A | G | 3 | a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 |
3 | HG01070.hp1 HG01261.hp1 HG03942.hp1 |
intron_variant | MODIFIER | c.-19-1527T>C | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18357527 | |||||||
chr17:18357601 | A | G | 1 | a0001c0001t0001g0164 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.-19-1601T>C | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18357601 | |||||||
chr17:18357731 | T | C | 1 | a0001c0001t0006g0150 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.-19-1731A>G | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18357731 | |||||||
chr17:18357814 | A | T | 6 | a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 others(3): Show |
6 | HG01070.hp1 HG01261.hp1 HG02074.hp2 others(3): Show |
intron_variant | MODIFIER | c.-19-1814T>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18357814 | |||||||
chr17:18357864 | C | CT | 100 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(97): Show |
118 | HG00438.hp1 HG00438.hp2 HG00639.hp1 others(115): Show |
intron_variant | MODIFIER | c.-19-1865dupA | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18357864 | |||||||
chr17:18357864 | C | CTT | 9 | a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 others(6): Show |
9 | HG00544.hp1 HG01106.hp2 HG02004.hp1 others(6): Show |
intron_variant | MODIFIER | c.-19-1866_-19-1865d others(4): Show |
SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18357864 | |||||||
chr17:18357874 | T | A | 6 | a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 others(3): Show |
6 | HG01070.hp1 HG01261.hp1 HG02074.hp2 others(3): Show |
intron_variant | MODIFIER | c.-19-1874A>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18357874 | |||||||
chr17:18358031 | T | C | 2 | a0001c0001t0001g0112 a0001c0001t0001g0113 |
2 | HG00544.hp2 NA19009.hp2 |
intron_variant | MODIFIER | c.-19-2031A>G | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18358031 | |||||||
chr17:18358126 | G | A | 1 | a0002c0002t0002g0035 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.-19-2126C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18358126 | |||||||
chr17:18358127 | C | T | 1 | a0001c0001t0001g0121 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.-19-2127G>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18358127 | |||||||
chr17:18358150 | T | TA | 123 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(120): Show |
147 | HG00438.hp1 HG00544.hp2 HG00639.hp2 others(144): Show |
intron_variant | MODIFIER | c.-19-2151dupT | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18358150 | |||||||
chr17:18358150 | TA | T | 13 | a0001c0001t0001g0068 a0001c0001t0003g0050 a0001c0001t0003g0051 others(10): Show |
13 | HG00642.hp1 HG01070.hp1 HG02109.hp1 others(10): Show |
intron_variant | MODIFIER | c.-19-2151delT | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18358150 | |||||||
chr17:18358267 | G | A | 1 | a0001c0001t0001g0006 | 3 | HG02451.hp2 HG02922.hp2 HG02965.hp2 |
intron_variant | MODIFIER | c.-19-2267C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18358267 | |||||||
chr17:18358422 | A | G | 6 | a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 others(3): Show |
6 | HG01070.hp1 HG01261.hp1 HG02074.hp2 others(3): Show |
intron_variant | MODIFIER | c.-19-2422T>C | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18358422 | |||||||
chr17:18358781 | T | C | 3 | a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 |
3 | HG01975.hp2 HG01978.hp1 HG02004.hp2 |
intron_variant | MODIFIER | c.-19-2781A>G | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18358781 | |||||||
chr17:18358957 | T | C | 1 | a0002c0002t0002g0046 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.-19-2957A>G | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18358957 | |||||||
chr17:18358973 | G | A | 1 | a0001c0001t0007g0059 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.-19-2973C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18358973 | |||||||
chr17:18359026 | C | T | 1 | a0001c0003t0003g0189 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.-19-3026G>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18359026 | |||||||
chr17:18359051 | C | T | 1 | a0004c0006t0003g0191 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-19-3051G>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18359051 | |||||||
chr17:18359162 | C | A | 1 | a0001c0001t0001g0182 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.-19-3162G>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18359162 | |||||||
chr17:18359186 | C | T | 1 | a0001c0001t0001g0071 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.-19-3186G>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18359186 | |||||||
chr17:18359215 | G | A | 6 | a0001c0003t0003g0185 a0001c0003t0003g0186 a0001c0003t0003g0187 others(3): Show |
6 | HG02622.hp1 HG02895.hp1 HG03195.hp1 others(3): Show |
intron_variant | MODIFIER | c.-19-3215C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18359215 | |||||||
chr17:18359232 | T | C | 115 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(112): Show |
133 | HG00438.hp1 HG00544.hp1 HG00639.hp1 others(130): Show |
intron_variant | MODIFIER | c.-19-3232A>G | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18359232 | |||||||
chr17:18359270 | G | T | 50 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(47): Show |
66 | HG00438.hp1 HG00639.hp1 HG01070.hp2 others(63): Show |
intron_variant | MODIFIER | c.-19-3270C>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18359270 | |||||||
chr17:18359274 | T | C | 6 | a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 others(3): Show |
6 | HG01070.hp1 HG01261.hp1 HG02074.hp2 others(3): Show |
intron_variant | MODIFIER | c.-19-3274A>G | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18359274 | |||||||
chr17:18359730 | A | G | 118 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(115): Show |
136 | HG00438.hp1 HG00544.hp1 HG00639.hp1 others(133): Show |
intron_variant | MODIFIER | c.-20+3642T>C | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18359730 | |||||||
chr17:18359960 | T | A | 1 | a0001c0001t0001g0154 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.-20+3412A>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18359960 | |||||||
chr17:18360045 | C | T | 1 | a0001c0003t0003g0188 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.-20+3327G>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18360045 | |||||||
chr17:18360074 | C | G | 1 | a0001c0001t0001g0064 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.-20+3298G>C | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18360074 | |||||||
chr17:18360113 | G | A | 1 | a0001c0001t0001g0158 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.-20+3259C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18360113 | |||||||
chr17:18360184 | G | T | 1 | a0001c0001t0001g0158 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.-20+3188C>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18360184 | |||||||
chr17:18360248 | C | CA | 5 | a0001c0001t0001g0019 a0001c0001t0001g0116 a0001c0001t0001g0155 others(2): Show |
5 | HG02027.hp2 HG02071.hp1 NA18942.hp1 others(2): Show |
intron_variant | MODIFIER | c.-20+3123dupT | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18360248 | |||||||
chr17:18360257 | C | A | 40 | a0001c0001t0001g0158 a0002c0002t0002g0003 a0002c0002t0002g0020 others(37): Show |
42 | HG00544.hp1 HG01081.hp1 HG01106.hp2 others(39): Show |
intron_variant | MODIFIER | c.-20+3115G>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18360257 | |||||||
chr17:18360350 | C | T | 6 | a0001c0003t0003g0185 a0001c0003t0003g0186 a0001c0003t0003g0187 others(3): Show |
6 | HG02622.hp1 HG02895.hp1 HG03195.hp1 others(3): Show |
intron_variant | MODIFIER | c.-20+3022G>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18360350 | |||||||
chr17:18360462 | A | C | 1 | a0001c0001t0001g0063 | 1 | NA18963.hp1 | intron_variant | MODIFIER | c.-20+2910T>G | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18360462 | |||||||
chr17:18360559 | C | CA | 7 | a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0013 others(4): Show |
11 | HG01070.hp2 HG02280.hp1 HG02451.hp2 others(8): Show |
intron_variant | MODIFIER | c.-20+2812dupT | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18360559 | |||||||
chr17:18360643 | G | C | 102 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(99): Show |
120 | HG00438.hp1 HG00544.hp1 HG00639.hp1 others(117): Show |
intron_variant | MODIFIER | c.-20+2729C>G | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18360643 | |||||||
chr17:18360790 | T | C | 4 | a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0004g0017 others(1): Show |
4 | HG01109.hp2 HG01433.hp1 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.-20+2582A>G | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18360790 | |||||||
chr17:18360888 | G | C | 1 | a0001c0001t0003g0060 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.-20+2484C>G | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18360888 | |||||||
chr17:18360913 | T | C | 57 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(54): Show |
73 | HG00438.hp1 HG00639.hp1 HG01070.hp2 others(70): Show |
intron_variant | MODIFIER | c.-20+2459A>G | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18360913 | |||||||
chr17:18361135 | A | G | 45 | a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0004g0017 others(42): Show |
47 | HG00544.hp1 HG01081.hp1 HG01106.hp2 others(44): Show |
intron_variant | MODIFIER | c.-20+2237T>C | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18361135 | |||||||
chr17:18361140 | T | C | 5 | a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0038 others(2): Show |
5 | HG01952.hp1 HG03654.hp2 HG03831.hp2 others(2): Show |
intron_variant | MODIFIER | c.-20+2232A>G | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18361140 | |||||||
chr17:18361260 | C | G | 4 | a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0004g0017 others(1): Show |
4 | HG01109.hp2 HG01433.hp1 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.-20+2112G>C | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18361260 | |||||||
chr17:18361271 | C | T | 2 | a0001c0001t0001g0061 a0001c0001t0001g0062 |
2 | NA18980.hp2 NA19083.hp1 |
intron_variant | MODIFIER | c.-20+2101G>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18361271 | |||||||
chr17:18361298 | C | CA | 84 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(81): Show |
101 | HG00438.hp1 HG00544.hp1 HG00639.hp1 others(98): Show |
intron_variant | MODIFIER | c.-20+2073dupT | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18361298 | |||||||
chr17:18361298 | C | CAA | 16 | a0001c0001t0001g0014 a0001c0001t0001g0164 a0001c0001t0001g0165 others(13): Show |
17 | HG01175.hp1 HG01243.hp2 HG01261.hp2 others(14): Show |
intron_variant | MODIFIER | c.-20+2072_-20+2073d others(4): Show |
SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18361298 | |||||||
chr17:18361310 | A | C | 2 | a0001c0001t0001g0007 a0001c0001t0001g0167 |
4 | NA18942.hp2 NA18952.hp1 NA18954.hp1 others(1): Show |
intron_variant | MODIFIER | c.-20+2062T>G | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18361310 | |||||||
chr17:18361316 | C | A | 40 | a0001c0003t0003g0186 a0001c0003t0003g0187 a0001c0003t0003g0188 others(37): Show |
42 | HG00544.hp1 HG01081.hp1 HG01106.hp2 others(39): Show |
intron_variant | MODIFIER | c.-20+2056G>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18361316 | |||||||
chr17:18361322 | C | A | 1 | a0002c0002t0002g0048 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.-20+2050G>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18361322 | |||||||
chr17:18361554 | G | A | 1 | a0004c0006t0003g0191 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-20+1818C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18361554 | |||||||
chr17:18361656 | G | A | 1 | a0002c0002t0002g0049 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.-20+1716C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18361656 | |||||||
chr17:18361785 | C | CA | 19 | a0001c0001t0001g0007 a0001c0001t0001g0167 a0001c0001t0001g0168 others(16): Show |
21 | HG00642.hp2 HG01175.hp2 HG01975.hp2 others(18): Show |
intron_variant | MODIFIER | c.-20+1586dupT | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18361785 | |||||||
chr17:18361950 | G | A | 35 | a0002c0002t0002g0003 a0002c0002t0002g0020 a0002c0002t0002g0021 others(32): Show |
37 | HG00544.hp1 HG01081.hp1 HG01106.hp2 others(34): Show |
intron_variant | MODIFIER | c.-20+1422C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18361950 | |||||||
chr17:18362153 | C | T | 35 | a0002c0002t0002g0003 a0002c0002t0002g0020 a0002c0002t0002g0021 others(32): Show |
37 | HG00544.hp1 HG01081.hp1 HG01106.hp2 others(34): Show |
intron_variant | MODIFIER | c.-20+1219G>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18362153 | |||||||
chr17:18362806 | G | C | 10 | a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0004g0017 others(7): Show |
10 | HG01109.hp2 HG01433.hp1 HG02622.hp1 others(7): Show |
intron_variant | MODIFIER | c.-20+566C>G | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18362806 | |||||||
chr17:18363177 | TG | T | 4 | a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0004g0017 others(1): Show |
4 | HG01109.hp2 HG01433.hp1 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.-20+194delC | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18363177 | |||||||
chr17:18363218 | C | T | 11 | a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 others(8): Show |
11 | HG00642.hp1 HG01891.hp2 HG02109.hp1 others(8): Show |
intron_variant | MODIFIER | c.-20+154G>A | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18363218 | |||||||
chr17:18363253 | G | A | 35 | a0002c0002t0002g0003 a0002c0002t0002g0020 a0002c0002t0002g0021 others(32): Show |
37 | HG00544.hp1 HG01081.hp1 HG01106.hp2 others(34): Show |
intron_variant | MODIFIER | c.-20+119C>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18363253 | |||||||
chr17:18363296 | A | AC | 36 | a0001c0001t0001g0019 a0002c0002t0002g0003 a0002c0002t0002g0020 others(33): Show |
38 | HG00544.hp1 HG01081.hp1 HG01106.hp2 others(35): Show |
intron_variant | MODIFIER | c.-20+75dupG | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18363296 | |||||||
chr17:18363332 | C | A | 1 | a0004c0006t0003g0191 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-20+40G>T | SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 1/11 | chr17 | 18363332 |