Item | Value |
---|---|
geneid | 50944 |
ensemblid | ENSG00000161681.17 |
hgncid | 15474 |
symbol | SHANK1 |
name | SH3 and multiple ankyrin repeat domains 1 |
refseq_nuc | NM_016148.5 |
refseq_prot | NP_057232.2 |
ensembl_nuc | ENST00000293441.6 |
ensembl_prot | ENSP00000293441.1 |
mane_status | MANE Select |
chr | chr19 |
start | 50659255 |
end | 50719802 |
strand | - |
ver | v1.2 |
region | chr19:50659255-50719802 |
region5000 | chr19:50654255-50724802 |
regionname0 | SHANK1_chr19_50659255_50719802 |
regionname5000 | SHANK1_chr19_50654255_50724802 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 0/0 | 2161 | 185 | 75 | 47 | 31 | 10 | 22 | 18 | SHANK1_chr19_50654255_50724802 | SHANK1 | MTHSP others(2156): Show |
chr19 | 50654255 | 50724802 |
a0002 | 1/1 | 2161 | 95 | 6 | 15 | 55 | 3 | 14 | 38 | SHANK1_chr19_50654255_50724802 | SHANK1 | MTHSP others(2156): Show |
chr19 | 50654255 | 50724802 |
a0003 | 0/0 | 2161 | 20 | 5 | 1 | 9 | 1 | 4 | 5 | SHANK1_chr19_50654255_50724802 | SHANK1 | MTHSP others(2156): Show |
chr19 | 50654255 | 50724802 |
a0004 | 0/0 | 2161 | 2 | 0 | 2 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | MTHSP others(2156): Show |
chr19 | 50654255 | 50724802 |
a0005 | 0/0 | 2161 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | MTHSP others(2156): Show |
chr19 | 50654255 | 50724802 |
a0006 | 0/0 | 2161 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | MTHSP others(2156): Show |
chr19 | 50654255 | 50724802 |
a0007 | 0/0 | 2161 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | MTHSP others(2156): Show |
chr19 | 50654255 | 50724802 |
a0008 | 0/0 | 2161 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | MTHSP others(2156): Show |
chr19 | 50654255 | 50724802 |
a0009 | 0/0 | 2161 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | MTHSP others(2156): Show |
chr19 | 50654255 | 50724802 |
a0010 | 0/0 | 2161 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | MTHSP others(2156): Show |
chr19 | 50654255 | 50724802 |
a0011 | 0/0 | 2161 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | MTHSP others(2156): Show |
chr19 | 50654255 | 50724802 |
a0012 | 0/0 | 2161 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | MTHSP others(2156): Show |
chr19 | 50654255 | 50724802 |
a0013 | 0/0 | 2161 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | MTHSP others(2156): Show |
chr19 | 50654255 | 50724802 |
a0014 | 0/0 | 2161 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | MTHSP others(2156): Show |
chr19 | 50654255 | 50724802 |
a0015 | 0/0 | 2161 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | MTHSP others(2156): Show |
chr19 | 50654255 | 50724802 |
a0016 | 0/0 | 2161 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | MTHSP others(2156): Show |
chr19 | 50654255 | 50724802 |
a0017 | 0/0 | 2161 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | MTHSP others(2156): Show |
chr19 | 50654255 | 50724802 |
a0018 | 0/0 | 2161 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | MTHSP others(2156): Show |
chr19 | 50654255 | 50724802 |
achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0002 | 0/0 | 6483 | 78 | 7 | 25 | 27 | 6 | 13 | SHANK1_chr19_50654255_50724802 | SHANK1 | ATGAC others(6478): Show |
chr19 | 50654255 | 50724802 | ||
a0001c0003 | 0/0 | 6483 | 51 | 33 | 11 | 2 | 2 | 3 | SHANK1_chr19_50654255_50724802 | SHANK1 | ATGAC others(6478): Show |
chr19 | 50654255 | 50724802 | ||
a0001c0004 | 0/0 | 6483 | 20 | 14 | 3 | 0 | 0 | 3 | SHANK1_chr19_50654255_50724802 | SHANK1 | ATGAC others(6478): Show |
chr19 | 50654255 | 50724802 | ||
a0001c0007 | 0/0 | 6483 | 5 | 5 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | ATGAC others(6478): Show |
chr19 | 50654255 | 50724802 | ||
a0001c0009 | 0/0 | 6483 | 4 | 4 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | ATGAC others(6478): Show |
chr19 | 50654255 | 50724802 | ||
a0001c0010 | 0/0 | 6483 | 4 | 0 | 2 | 0 | 0 | 2 | SHANK1_chr19_50654255_50724802 | SHANK1 | ATGAC others(6478): Show |
chr19 | 50654255 | 50724802 | ||
a0001c0011 | 0/0 | 6483 | 3 | 1 | 1 | 0 | 1 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | ATGAC others(6478): Show |
chr19 | 50654255 | 50724802 | ||
a0001c0012 | 0/0 | 6483 | 3 | 0 | 3 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | ATGAC others(6478): Show |
chr19 | 50654255 | 50724802 | ||
a0001c0013 | 0/0 | 6483 | 2 | 2 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | ATGAC others(6478): Show |
chr19 | 50654255 | 50724802 | ||
a0001c0014 | 0/0 | 6483 | 2 | 2 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | ATGAC others(6478): Show |
chr19 | 50654255 | 50724802 | ||
a0001c0015 | 0/0 | 6483 | 2 | 0 | 0 | 1 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | ATGAC others(6478): Show |
chr19 | 50654255 | 50724802 | ||
a0001c0016 | 0/0 | 6483 | 2 | 1 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | ATGAC others(6478): Show |
chr19 | 50654255 | 50724802 | ||
a0001c0018 | 0/0 | 6483 | 2 | 2 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | ATGAC others(6478): Show |
chr19 | 50654255 | 50724802 | ||
a0001c0019 | 0/0 | 6483 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | ATGAC others(6478): Show |
chr19 | 50654255 | 50724802 | ||
a0001c0020 | 0/0 | 6483 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | ATGAC others(6478): Show |
chr19 | 50654255 | 50724802 | ||
a0001c0021 | 0/0 | 6483 | 1 | 0 | 0 | 0 | 1 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | ATGAC others(6478): Show |
chr19 | 50654255 | 50724802 | ||
a0001c0032 | 0/0 | 6483 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | ATGAC others(6478): Show |
chr19 | 50654255 | 50724802 | ||
a0001c0038 | 0/0 | 6483 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | ATGAC others(6478): Show |
chr19 | 50654255 | 50724802 | ||
a0001c0039 | 0/0 | 6483 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | ATGAC others(6478): Show |
chr19 | 50654255 | 50724802 | ||
a0001c0040 | 0/0 | 6483 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | ATGAC others(6478): Show |
chr19 | 50654255 | 50724802 | ||
a0002c0001 | 1/1 | 6483 | 88 | 6 | 15 | 48 | 3 | 14 | SHANK1_chr19_50654255_50724802 | SHANK1 | ATGAC others(6478): Show |
chr19 | 50654255 | 50724802 | ||
a0002c0008 | 0/0 | 6483 | 5 | 0 | 0 | 5 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | ATGAC others(6478): Show |
chr19 | 50654255 | 50724802 | ||
a0002c0028 | 0/0 | 6483 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | ATGAC others(6478): Show |
chr19 | 50654255 | 50724802 | ||
a0002c0041 | 0/0 | 6483 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | ATGAC others(6478): Show |
chr19 | 50654255 | 50724802 | ||
a0003c0005 | 0/0 | 6483 | 12 | 0 | 1 | 9 | 1 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | ATGAC others(6478): Show |
chr19 | 50654255 | 50724802 | ||
a0003c0006 | 0/0 | 6483 | 8 | 5 | 0 | 0 | 0 | 3 | SHANK1_chr19_50654255_50724802 | SHANK1 | ATGAC others(6478): Show |
chr19 | 50654255 | 50724802 | ||
a0004c0017 | 0/0 | 6483 | 2 | 0 | 2 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | ATGAC others(6478): Show |
chr19 | 50654255 | 50724802 | ||
a0005c0022 | 0/0 | 6483 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | ATGAC others(6478): Show |
chr19 | 50654255 | 50724802 | ||
a0006c0027 | 0/0 | 6483 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | ATGAC others(6478): Show |
chr19 | 50654255 | 50724802 | ||
a0007c0035 | 0/0 | 6483 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | ATGAC others(6478): Show |
chr19 | 50654255 | 50724802 | ||
a0008c0033 | 0/0 | 6483 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | ATGAC others(6478): Show |
chr19 | 50654255 | 50724802 | ||
a0009c0026 | 0/0 | 6483 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | ATGAC others(6478): Show |
chr19 | 50654255 | 50724802 | ||
a0010c0036 | 0/0 | 6483 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | ATGAC others(6478): Show |
chr19 | 50654255 | 50724802 | ||
a0011c0023 | 0/0 | 6483 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | ATGAC others(6478): Show |
chr19 | 50654255 | 50724802 | ||
a0012c0031 | 0/0 | 6483 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | ATGAC others(6478): Show |
chr19 | 50654255 | 50724802 | ||
a0013c0034 | 0/0 | 6483 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | ATGAC others(6478): Show |
chr19 | 50654255 | 50724802 | ||
a0014c0030 | 0/0 | 6483 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | ATGAC others(6478): Show |
chr19 | 50654255 | 50724802 | ||
a0015c0025 | 0/0 | 6483 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | ATGAC others(6478): Show |
chr19 | 50654255 | 50724802 | ||
a0016c0029 | 0/0 | 6483 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | ATGAC others(6478): Show |
chr19 | 50654255 | 50724802 | ||
a0017c0037 | 0/0 | 6483 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | ATGAC others(6478): Show |
chr19 | 50654255 | 50724802 | ||
a0018c0024 | 0/0 | 6483 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | ATGAC others(6478): Show |
chr19 | 50654255 | 50724802 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0002t0001 | 0/0 | 9651 | 17 | 2 | 10 | 2 | 2 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9646): Show |
chr19 | 50654255 | 50724802 |
a0001c0002t0002 | 0/0 | 9636 | 4 | 0 | 0 | 4 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9631): Show |
chr19 | 50654255 | 50724802 |
a0001c0002t0003 | 0/0 | 9633 | 6 | 0 | 2 | 2 | 1 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9628): Show |
chr19 | 50654255 | 50724802 |
a0001c0002t0005 | 0/0 | 9637 | 4 | 0 | 0 | 4 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9632): Show |
chr19 | 50654255 | 50724802 |
a0001c0002t0006 | 0/0 | 9652 | 5 | 0 | 4 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9647): Show |
chr19 | 50654255 | 50724802 |
a0001c0002t0007 | 0/0 | 9635 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9630): Show |
chr19 | 50654255 | 50724802 |
a0001c0002t0009 | 0/0 | 9634 | 8 | 0 | 2 | 3 | 0 | 3 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9629): Show |
chr19 | 50654255 | 50724802 |
a0001c0002t0010 | 0/0 | 9633 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9628): Show |
chr19 | 50654255 | 50724802 |
a0001c0002t0011 | 0/0 | 9634 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9629): Show |
chr19 | 50654255 | 50724802 |
a0001c0002t0012 | 0/0 | 9634 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9629): Show |
chr19 | 50654255 | 50724802 |
a0001c0002t0014 | 0/0 | 9653 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9648): Show |
chr19 | 50654255 | 50724802 |
a0001c0002t0015 | 0/0 | 9635 | 2 | 0 | 0 | 2 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9630): Show |
chr19 | 50654255 | 50724802 |
a0001c0002t0016 | 0/0 | 9636 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9631): Show |
chr19 | 50654255 | 50724802 |
a0001c0002t0018 | 0/0 | 9636 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9631): Show |
chr19 | 50654255 | 50724802 |
a0001c0002t0019 | 0/0 | 9638 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9633): Show |
chr19 | 50654255 | 50724802 |
a0001c0002t0021 | 0/0 | 9637 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9632): Show |
chr19 | 50654255 | 50724802 |
a0001c0002t0030 | 0/0 | 9651 | 2 | 1 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9646): Show |
chr19 | 50654255 | 50724802 |
a0001c0002t0031 | 0/0 | 9652 | 2 | 0 | 0 | 0 | 2 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9647): Show |
chr19 | 50654255 | 50724802 |
a0001c0002t0033 | 0/0 | 9637 | 2 | 0 | 0 | 2 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9632): Show |
chr19 | 50654255 | 50724802 |
a0001c0002t0034 | 0/0 | 9651 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9646): Show |
chr19 | 50654255 | 50724802 |
a0001c0002t0037 | 0/0 | 9637 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9632): Show |
chr19 | 50654255 | 50724802 |
a0001c0002t0040 | 0/0 | 9652 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9647): Show |
chr19 | 50654255 | 50724802 |
a0001c0002t0041 | 0/0 | 9653 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9648): Show |
chr19 | 50654255 | 50724802 |
a0001c0002t0050 | 0/0 | 9635 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9630): Show |
chr19 | 50654255 | 50724802 |
a0001c0002t0051 | 0/0 | 9637 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9632): Show |
chr19 | 50654255 | 50724802 |
a0001c0002t0052 | 0/0 | 9638 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9633): Show |
chr19 | 50654255 | 50724802 |
a0001c0002t0054 | 0/0 | 9636 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9631): Show |
chr19 | 50654255 | 50724802 |
a0001c0002t0058 | 0/0 | 9636 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9631): Show |
chr19 | 50654255 | 50724802 |
a0001c0002t0084 | 0/0 | 9634 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9629): Show |
chr19 | 50654255 | 50724802 |
a0001c0002t0085 | 0/0 | 9635 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9630): Show |
chr19 | 50654255 | 50724802 |
a0001c0002t0091 | 0/0 | 9638 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9633): Show |
chr19 | 50654255 | 50724802 |
a0001c0002t0095 | 0/0 | 9633 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9628): Show |
chr19 | 50654255 | 50724802 |
a0001c0002t0100 | 0/0 | 9652 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9647): Show |
chr19 | 50654255 | 50724802 |
a0001c0002t0104 | 0/0 | 9652 | 1 | 0 | 0 | 0 | 1 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9647): Show |
chr19 | 50654255 | 50724802 |
a0001c0002t0105 | 0/0 | 9637 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9632): Show |
chr19 | 50654255 | 50724802 |
a0001c0002t0109 | 0/0 | 9636 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9631): Show |
chr19 | 50654255 | 50724802 |
a0001c0003t0001 | 0/0 | 9651 | 2 | 1 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9646): Show |
chr19 | 50654255 | 50724802 |
a0001c0003t0002 | 0/0 | 9636 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9631): Show |
chr19 | 50654255 | 50724802 |
a0001c0003t0003 | 0/0 | 9633 | 2 | 1 | 0 | 0 | 1 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9628): Show |
chr19 | 50654255 | 50724802 |
a0001c0003t0004 | 0/0 | 9637 | 9 | 4 | 5 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9632): Show |
chr19 | 50654255 | 50724802 |
a0001c0003t0006 | 0/0 | 9652 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9647): Show |
chr19 | 50654255 | 50724802 |
a0001c0003t0007 | 0/0 | 9635 | 4 | 3 | 0 | 0 | 1 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9630): Show |
chr19 | 50654255 | 50724802 |
a0001c0003t0008 | 0/0 | 9636 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9631): Show |
chr19 | 50654255 | 50724802 |
a0001c0003t0010 | 0/0 | 9633 | 4 | 3 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9628): Show |
chr19 | 50654255 | 50724802 |
a0001c0003t0011 | 0/0 | 9634 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9629): Show |
chr19 | 50654255 | 50724802 |
a0001c0003t0012 | 0/0 | 9634 | 2 | 2 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9629): Show |
chr19 | 50654255 | 50724802 |
a0001c0003t0017 | 0/0 | 9637 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9632): Show |
chr19 | 50654255 | 50724802 |
a0001c0003t0022 | 0/0 | 9635 | 2 | 2 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9630): Show |
chr19 | 50654255 | 50724802 |
a0001c0003t0023 | 0/0 | 9630 | 3 | 3 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9625): Show |
chr19 | 50654255 | 50724802 |
a0001c0003t0025 | 0/0 | 9634 | 2 | 2 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9629): Show |
chr19 | 50654255 | 50724802 |
a0001c0003t0035 | 0/0 | 9634 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9629): Show |
chr19 | 50654255 | 50724802 |
a0001c0003t0036 | 0/0 | 9654 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9649): Show |
chr19 | 50654255 | 50724802 |
a0001c0003t0044 | 0/0 | 9653 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9648): Show |
chr19 | 50654255 | 50724802 |
a0001c0003t0065 | 0/0 | 9634 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9629): Show |
chr19 | 50654255 | 50724802 |
a0001c0003t0067 | 0/0 | 9639 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9634): Show |
chr19 | 50654255 | 50724802 |
a0001c0003t0074 | 0/0 | 9634 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9629): Show |
chr19 | 50654255 | 50724802 |
a0001c0003t0075 | 0/0 | 9633 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9628): Show |
chr19 | 50654255 | 50724802 |
a0001c0003t0076 | 0/0 | 9634 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9629): Show |
chr19 | 50654255 | 50724802 |
a0001c0003t0080 | 0/0 | 9636 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9631): Show |
chr19 | 50654255 | 50724802 |
a0001c0003t0082 | 0/0 | 9636 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9631): Show |
chr19 | 50654255 | 50724802 |
a0001c0003t0083 | 0/0 | 9637 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9632): Show |
chr19 | 50654255 | 50724802 |
a0001c0003t0090 | 0/0 | 9637 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9632): Show |
chr19 | 50654255 | 50724802 |
a0001c0003t0099 | 0/0 | 9631 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9626): Show |
chr19 | 50654255 | 50724802 |
a0001c0003t0102 | 0/0 | 9637 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9632): Show |
chr19 | 50654255 | 50724802 |
a0001c0003t0110 | 0/0 | 9637 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9632): Show |
chr19 | 50654255 | 50724802 |
a0001c0003t0111 | 0/0 | 9652 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9647): Show |
chr19 | 50654255 | 50724802 |
a0001c0004t0001 | 0/0 | 9651 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9646): Show |
chr19 | 50654255 | 50724802 |
a0001c0004t0004 | 0/0 | 9637 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9632): Show |
chr19 | 50654255 | 50724802 |
a0001c0004t0007 | 0/0 | 9635 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9630): Show |
chr19 | 50654255 | 50724802 |
a0001c0004t0008 | 0/0 | 9636 | 2 | 2 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9631): Show |
chr19 | 50654255 | 50724802 |
a0001c0004t0010 | 0/0 | 9633 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9628): Show |
chr19 | 50654255 | 50724802 |
a0001c0004t0011 | 0/0 | 9634 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9629): Show |
chr19 | 50654255 | 50724802 |
a0001c0004t0014 | 0/0 | 9653 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9648): Show |
chr19 | 50654255 | 50724802 |
a0001c0004t0015 | 0/0 | 9635 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9630): Show |
chr19 | 50654255 | 50724802 |
a0001c0004t0016 | 0/0 | 9636 | 2 | 2 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9631): Show |
chr19 | 50654255 | 50724802 |
a0001c0004t0017 | 0/0 | 9637 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9632): Show |
chr19 | 50654255 | 50724802 |
a0001c0004t0026 | 0/0 | 9638 | 2 | 0 | 1 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9633): Show |
chr19 | 50654255 | 50724802 |
a0001c0004t0028 | 0/0 | 9630 | 2 | 2 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9625): Show |
chr19 | 50654255 | 50724802 |
a0001c0004t0077 | 0/0 | 9634 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9629): Show |
chr19 | 50654255 | 50724802 |
a0001c0004t0081 | 0/0 | 9636 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9631): Show |
chr19 | 50654255 | 50724802 |
a0001c0004t0096 | 0/0 | 9636 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9631): Show |
chr19 | 50654255 | 50724802 |
a0001c0004t0103 | 0/0 | 9638 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9633): Show |
chr19 | 50654255 | 50724802 |
a0001c0007t0007 | 0/0 | 9635 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9630): Show |
chr19 | 50654255 | 50724802 |
a0001c0007t0008 | 0/0 | 9636 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9631): Show |
chr19 | 50654255 | 50724802 |
a0001c0007t0012 | 0/0 | 9634 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9629): Show |
chr19 | 50654255 | 50724802 |
a0001c0007t0042 | 0/0 | 9636 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9631): Show |
chr19 | 50654255 | 50724802 |
a0001c0007t0071 | 0/0 | 9638 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9633): Show |
chr19 | 50654255 | 50724802 |
a0001c0009t0004 | 0/0 | 9637 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9632): Show |
chr19 | 50654255 | 50724802 |
a0001c0009t0007 | 0/0 | 9635 | 2 | 2 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9630): Show |
chr19 | 50654255 | 50724802 |
a0001c0009t0022 | 0/0 | 9635 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9630): Show |
chr19 | 50654255 | 50724802 |
a0001c0010t0001 | 0/0 | 9651 | 2 | 0 | 0 | 0 | 0 | 2 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9646): Show |
chr19 | 50654255 | 50724802 |
a0001c0010t0004 | 0/0 | 9637 | 2 | 0 | 2 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9632): Show |
chr19 | 50654255 | 50724802 |
a0001c0011t0001 | 0/0 | 9651 | 2 | 0 | 1 | 0 | 1 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9646): Show |
chr19 | 50654255 | 50724802 |
a0001c0011t0006 | 0/0 | 9652 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9647): Show |
chr19 | 50654255 | 50724802 |
a0001c0012t0001 | 0/0 | 9651 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9646): Show |
chr19 | 50654255 | 50724802 |
a0001c0012t0006 | 0/0 | 9652 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9647): Show |
chr19 | 50654255 | 50724802 |
a0001c0012t0014 | 0/0 | 9653 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9648): Show |
chr19 | 50654255 | 50724802 |
a0001c0013t0024 | 0/0 | 9634 | 2 | 2 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9629): Show |
chr19 | 50654255 | 50724802 |
a0001c0014t0008 | 0/0 | 9636 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9631): Show |
chr19 | 50654255 | 50724802 |
a0001c0014t0087 | 0/0 | 9635 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9630): Show |
chr19 | 50654255 | 50724802 |
a0001c0015t0001 | 0/0 | 9651 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9646): Show |
chr19 | 50654255 | 50724802 |
a0001c0015t0027 | 0/0 | 9638 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9633): Show |
chr19 | 50654255 | 50724802 |
a0001c0016t0064 | 0/0 | 9633 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9628): Show |
chr19 | 50654255 | 50724802 |
a0001c0016t0073 | 0/0 | 9651 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9646): Show |
chr19 | 50654255 | 50724802 |
a0001c0018t0003 | 0/0 | 9633 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9628): Show |
chr19 | 50654255 | 50724802 |
a0001c0018t0078 | 0/0 | 9634 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9629): Show |
chr19 | 50654255 | 50724802 |
a0001c0019t0020 | 0/0 | 9635 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9630): Show |
chr19 | 50654255 | 50724802 |
a0001c0020t0008 | 0/0 | 9636 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9631): Show |
chr19 | 50654255 | 50724802 |
a0001c0021t0006 | 0/0 | 9652 | 1 | 0 | 0 | 0 | 1 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9647): Show |
chr19 | 50654255 | 50724802 |
a0001c0032t0018 | 0/0 | 9636 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9631): Show |
chr19 | 50654255 | 50724802 |
a0001c0038t0094 | 0/0 | 9639 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9634): Show |
chr19 | 50654255 | 50724802 |
a0001c0039t0006 | 0/0 | 9652 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9647): Show |
chr19 | 50654255 | 50724802 |
a0001c0040t0005 | 0/0 | 9637 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9632): Show |
chr19 | 50654255 | 50724802 |
a0002c0001t0001 | 0/0 | 9651 | 4 | 0 | 1 | 2 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9646): Show |
chr19 | 50654255 | 50724802 |
a0002c0001t0002 | 1/0 | 9636 | 21 | 1 | 3 | 13 | 1 | 2 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9631): Show |
chr19 | 50654255 | 50724802 |
a0002c0001t0003 | 0/0 | 9633 | 2 | 0 | 0 | 2 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9628): Show |
chr19 | 50654255 | 50724802 |
a0002c0001t0004 | 0/0 | 9637 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9632): Show |
chr19 | 50654255 | 50724802 |
a0002c0001t0005 | 0/0 | 9637 | 8 | 0 | 2 | 5 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9632): Show |
chr19 | 50654255 | 50724802 |
a0002c0001t0006 | 0/0 | 9652 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9647): Show |
chr19 | 50654255 | 50724802 |
a0002c0001t0007 | 0/0 | 9635 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9630): Show |
chr19 | 50654255 | 50724802 |
a0002c0001t0008 | 0/0 | 9636 | 4 | 1 | 2 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9631): Show |
chr19 | 50654255 | 50724802 |
a0002c0001t0009 | 0/0 | 9634 | 2 | 0 | 0 | 2 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9629): Show |
chr19 | 50654255 | 50724802 |
a0002c0001t0010 | 0/0 | 9633 | 2 | 0 | 0 | 0 | 2 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9628): Show |
chr19 | 50654255 | 50724802 |
a0002c0001t0011 | 0/0 | 9634 | 2 | 2 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9629): Show |
chr19 | 50654255 | 50724802 |
a0002c0001t0013 | 0/0 | 9637 | 3 | 0 | 0 | 3 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9632): Show |
chr19 | 50654255 | 50724802 |
a0002c0001t0015 | 0/0 | 9635 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9630): Show |
chr19 | 50654255 | 50724802 |
a0002c0001t0017 | 0/0 | 9637 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9632): Show |
chr19 | 50654255 | 50724802 |
a0002c0001t0018 | 0/0 | 9636 | 2 | 0 | 1 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9631): Show |
chr19 | 50654255 | 50724802 |
a0002c0001t0019 | 0/0 | 9638 | 3 | 0 | 0 | 1 | 0 | 2 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9633): Show |
chr19 | 50654255 | 50724802 |
a0002c0001t0021 | 0/0 | 9637 | 2 | 0 | 0 | 2 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9632): Show |
chr19 | 50654255 | 50724802 |
a0002c0001t0024 | 0/0 | 9634 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9629): Show |
chr19 | 50654255 | 50724802 |
a0002c0001t0027 | 0/0 | 9638 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9633): Show |
chr19 | 50654255 | 50724802 |
a0002c0001t0029 | 0/0 | 9633 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9628): Show |
chr19 | 50654255 | 50724802 |
a0002c0001t0032 | 0/0 | 9637 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9632): Show |
chr19 | 50654255 | 50724802 |
a0002c0001t0038 | 0/0 | 9640 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9635): Show |
chr19 | 50654255 | 50724802 |
a0002c0001t0039 | 0/0 | 9652 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9647): Show |
chr19 | 50654255 | 50724802 |
a0002c0001t0046 | 0/0 | 9638 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9633): Show |
chr19 | 50654255 | 50724802 |
a0002c0001t0047 | 0/0 | 9637 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9632): Show |
chr19 | 50654255 | 50724802 |
a0002c0001t0048 | 0/0 | 9639 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9634): Show |
chr19 | 50654255 | 50724802 |
a0002c0001t0049 | 0/0 | 9639 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9634): Show |
chr19 | 50654255 | 50724802 |
a0002c0001t0053 | 0/1 | 9637 | 1 | 0 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9632): Show |
chr19 | 50654255 | 50724802 |
a0002c0001t0055 | 0/0 | 9651 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9646): Show |
chr19 | 50654255 | 50724802 |
a0002c0001t0056 | 0/0 | 9652 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9647): Show |
chr19 | 50654255 | 50724802 |
a0002c0001t0057 | 0/0 | 9653 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9648): Show |
chr19 | 50654255 | 50724802 |
a0002c0001t0059 | 0/0 | 9637 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9632): Show |
chr19 | 50654255 | 50724802 |
a0002c0001t0060 | 0/0 | 9637 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9632): Show |
chr19 | 50654255 | 50724802 |
a0002c0001t0062 | 0/0 | 9638 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9633): Show |
chr19 | 50654255 | 50724802 |
a0002c0001t0063 | 0/0 | 9639 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9634): Show |
chr19 | 50654255 | 50724802 |
a0002c0001t0066 | 0/0 | 9638 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9633): Show |
chr19 | 50654255 | 50724802 |
a0002c0001t0070 | 0/0 | 9637 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9632): Show |
chr19 | 50654255 | 50724802 |
a0002c0001t0086 | 0/0 | 9636 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9631): Show |
chr19 | 50654255 | 50724802 |
a0002c0001t0088 | 0/0 | 9637 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9632): Show |
chr19 | 50654255 | 50724802 |
a0002c0001t0089 | 0/0 | 9637 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9632): Show |
chr19 | 50654255 | 50724802 |
a0002c0001t0092 | 0/0 | 9639 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9634): Show |
chr19 | 50654255 | 50724802 |
a0002c0001t0093 | 0/0 | 9639 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9634): Show |
chr19 | 50654255 | 50724802 |
a0002c0001t0098 | 0/0 | 9638 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9633): Show |
chr19 | 50654255 | 50724802 |
a0002c0001t0106 | 0/0 | 9638 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9633): Show |
chr19 | 50654255 | 50724802 |
a0002c0001t0107 | 0/0 | 9638 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9633): Show |
chr19 | 50654255 | 50724802 |
a0002c0008t0003 | 0/0 | 9633 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9628): Show |
chr19 | 50654255 | 50724802 |
a0002c0008t0013 | 0/0 | 9637 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9632): Show |
chr19 | 50654255 | 50724802 |
a0002c0008t0017 | 0/0 | 9637 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9632): Show |
chr19 | 50654255 | 50724802 |
a0002c0008t0068 | 0/0 | 9637 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9632): Show |
chr19 | 50654255 | 50724802 |
a0002c0008t0097 | 0/0 | 9638 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9633): Show |
chr19 | 50654255 | 50724802 |
a0002c0028t0020 | 0/0 | 9635 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9630): Show |
chr19 | 50654255 | 50724802 |
a0002c0041t0013 | 0/0 | 9637 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9632): Show |
chr19 | 50654255 | 50724802 |
a0003c0005t0002 | 0/0 | 9636 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9631): Show |
chr19 | 50654255 | 50724802 |
a0003c0005t0003 | 0/0 | 9633 | 5 | 0 | 1 | 3 | 1 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9628): Show |
chr19 | 50654255 | 50724802 |
a0003c0005t0014 | 0/0 | 9653 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9648): Show |
chr19 | 50654255 | 50724802 |
a0003c0005t0016 | 0/0 | 9636 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9631): Show |
chr19 | 50654255 | 50724802 |
a0003c0005t0020 | 0/0 | 9635 | 2 | 0 | 0 | 2 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9630): Show |
chr19 | 50654255 | 50724802 |
a0003c0005t0032 | 0/0 | 9637 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9632): Show |
chr19 | 50654255 | 50724802 |
a0003c0005t0043 | 0/0 | 9634 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9629): Show |
chr19 | 50654255 | 50724802 |
a0003c0006t0001 | 0/0 | 9651 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9646): Show |
chr19 | 50654255 | 50724802 |
a0003c0006t0005 | 0/0 | 9637 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9632): Show |
chr19 | 50654255 | 50724802 |
a0003c0006t0006 | 0/0 | 9652 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9647): Show |
chr19 | 50654255 | 50724802 |
a0003c0006t0012 | 0/0 | 9634 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9629): Show |
chr19 | 50654255 | 50724802 |
a0003c0006t0014 | 0/0 | 9653 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9648): Show |
chr19 | 50654255 | 50724802 |
a0003c0006t0045 | 0/0 | 9654 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9649): Show |
chr19 | 50654255 | 50724802 |
a0003c0006t0101 | 0/0 | 9653 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9648): Show |
chr19 | 50654255 | 50724802 |
a0003c0006t0108 | 0/0 | 9637 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9632): Show |
chr19 | 50654255 | 50724802 |
a0004c0017t0001 | 0/0 | 9651 | 2 | 0 | 2 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9646): Show |
chr19 | 50654255 | 50724802 |
a0005c0022t0001 | 0/0 | 9651 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9646): Show |
chr19 | 50654255 | 50724802 |
a0006c0027t0011 | 0/0 | 9634 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9629): Show |
chr19 | 50654255 | 50724802 |
a0007c0035t0069 | 0/0 | 9653 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9648): Show |
chr19 | 50654255 | 50724802 |
a0008c0033t0002 | 0/0 | 9636 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9631): Show |
chr19 | 50654255 | 50724802 |
a0009c0026t0061 | 0/0 | 9636 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9631): Show |
chr19 | 50654255 | 50724802 |
a0010c0036t0002 | 0/0 | 9636 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9631): Show |
chr19 | 50654255 | 50724802 |
a0011c0023t0012 | 0/0 | 9634 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9629): Show |
chr19 | 50654255 | 50724802 |
a0012c0031t0029 | 0/0 | 9633 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9628): Show |
chr19 | 50654255 | 50724802 |
a0013c0034t0007 | 0/0 | 9635 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9630): Show |
chr19 | 50654255 | 50724802 |
a0014c0030t0072 | 0/0 | 9636 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9631): Show |
chr19 | 50654255 | 50724802 |
a0015c0025t0004 | 0/0 | 9637 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9632): Show |
chr19 | 50654255 | 50724802 |
a0016c0029t0001 | 0/0 | 9651 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9646): Show |
chr19 | 50654255 | 50724802 |
a0017c0037t0005 | 0/0 | 9637 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9632): Show |
chr19 | 50654255 | 50724802 |
a0018c0024t0079 | 0/0 | 9653 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | AGAGA others(9648): Show |
chr19 | 50654255 | 50724802 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0002t0001g0093 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0001g0095 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0001g0097 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0001g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0001g0120 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0001g0140 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0001g0150 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0001g0178 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0001g0182 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0001g0186 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0001g0191 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0001g0197 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0001g0201 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0001g0204 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0001g0211 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0001g0251 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0001g0261 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0002g0109 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0002g0221 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0002g0259 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0002g0294 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0003g0058 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0003g0062 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0003g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0003g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0003g0199 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0003g0277 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0005g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0005g0165 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0005g0257 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0005g0258 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0006g0111 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0006g0141 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0006g0236 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0006g0238 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0006g0275 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0007g0269 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0009g0098 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0009g0132 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0009g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0009g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0009g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0009g0196 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0009g0226 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0009g0227 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0010g0200 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0011g0087 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0012g0135 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0014g0202 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0015g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0015g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0016g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0018g0128 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0019g0273 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0021g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0030g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0030g0243 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0031g0212 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0031g0229 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0033g0302 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0033g0306 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0034g0003 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0037g0007 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0040g0010 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0041g0017 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0050g0028 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0051g0027 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0052g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0054g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0058g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0084g0231 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0085g0131 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0091g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0095g0072 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0100g0300 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0104g0307 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0105g0304 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0002t0109g0312 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0003t0001g0061 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0003t0001g0063 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0003t0002g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0003t0003g0253 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0003t0003g0292 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0003t0004g0057 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0003t0004g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0003t0004g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0003t0004g0099 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0003t0004g0100 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0003t0004g0193 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0003t0004g0225 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0003t0004g0228 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0003t0004g0254 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0003t0006g0168 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0003t0007g0055 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0003t0007g0067 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0003t0007g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0003t0007g0089 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0003t0008g0233 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0003t0010g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0003t0010g0169 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0003t0010g0173 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0003t0010g0284 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0003t0011g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0003t0012g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0003t0012g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0003t0017g0088 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0003t0022g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0003t0022g0248 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0003t0023g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0003t0023g0239 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0003t0023g0240 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0003t0025g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0003t0025g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0003t0035g0004 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0003t0036g0005 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0003t0044g0011 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0003t0065g0046 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0003t0067g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0003t0074g0073 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0003t0075g0125 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0003t0076g0289 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0003t0080g0143 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0003t0082g0174 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0003t0083g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0003t0090g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0003t0099g0308 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0003t0102g0303 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0003t0110g0313 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0003t0111g0314 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0004t0001g0104 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0004t0004g0188 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0004t0007g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0004t0008g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0004t0008g0064 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0004t0010g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0004t0011g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0004t0014g0163 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0004t0015g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0004t0016g0066 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0004t0016g0083 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0004t0017g0250 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0004t0026g0014 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0004t0026g0019 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0004t0028g0234 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0004t0028g0274 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0004t0077g0249 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0004t0081g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0004t0096g0297 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0004t0103g0310 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0007t0007g0218 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0007t0008g0237 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0007t0012g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0007t0042g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0007t0071g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0009t0004g0247 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0009t0007g0244 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0009t0007g0270 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0009t0022g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0010t0001g0285 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0010t0001g0286 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0010t0004g0189 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0010t0004g0190 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0011t0001g0054 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0011t0001g0278 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0011t0006g0268 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0012t0001g0107 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0012t0006g0105 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0012t0014g0106 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0013t0024g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0013t0024g0137 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0014t0008g0232 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0014t0087g0242 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0015t0001g0102 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0015t0027g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0016t0064g0042 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0016t0073g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0018t0003g0127 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0018t0078g0124 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0019t0020g0235 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0020t0008g0260 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0021t0006g0103 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0032t0018g0177 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0038t0094g0287 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0039t0006g0108 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0001c0040t0005g0207 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0001g0059 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0001g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0001g0138 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0001g0195 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0002g0096 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0002g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0002g0126 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0002g0145 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0002g0152 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0002g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0002g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0002g0171 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0002g0175 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0002g0176 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0002g0183 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0002g0187 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0002g0213 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0002g0267 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0002g0271 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0002g0272 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0002g0276 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0002g0290 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0002g0291 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0002g0293 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0002g0296 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0003g0161 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0003g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0004g0136 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0005g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0005g0110 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0005g0129 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0005g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0005g0153 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0005g0194 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0005g0214 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0005g0220 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0006g0142 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0007g0224 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0008g0056 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0008g0265 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0008g0266 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0008g0288 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0009g0148 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0009g0192 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0010g0263 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0010g0264 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0011g0002 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0013g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0013g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0013g0256 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0015g0205 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0017g0134 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0018g0146 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0018g0262 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0019g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0019g0223 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0019g0279 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0021g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0021g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0024g0245 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0027g0030 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0029g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0032g0156 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0038g0006 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0039g0015 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0046g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0047g0025 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0048g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0049g0024 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0053g0031 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0055g0033 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0056g0036 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0057g0034 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0059g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0060g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0062g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0063g0039 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0066g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0070g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0086g0149 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0088g0281 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0089g0219 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0092g0217 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0093g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0098g0299 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0106g0311 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0001t0107g0305 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0008t0003g0208 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0008t0013g0209 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0008t0017g0210 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0008t0068g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0008t0097g0298 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0028t0020g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0002c0041t0013g0255 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0003c0005t0002g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0003c0005t0003g0101 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0003c0005t0003g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0003c0005t0003g0151 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0003c0005t0003g0198 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0003c0005t0003g0241 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0003c0005t0014g0222 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0003c0005t0016g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0003c0005t0020g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0003c0005t0020g0215 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0003c0005t0032g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0003c0005t0043g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0003c0006t0001g0246 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0003c0006t0005g0280 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0003c0006t0006g0283 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0003c0006t0012g0090 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0003c0006t0014g0216 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0003c0006t0045g0008 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0003c0006t0101g0301 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0003c0006t0108g0309 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0004c0017t0001g0001 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0005c0022t0001g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0006c0027t0011g0230 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0007c0035t0069g0043 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0008c0033t0002g0185 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0009c0026t0061g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0010c0036t0002g0295 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0011c0023t0012g0082 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0012c0031t0029g0130 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0013c0034t0007g0252 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0014c0030t0072g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0015c0025t0004g0282 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0016c0029t0001g0206 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0017c0037t0005g0121 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
a0018c0024t0079g0203 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00140 | hp1 | a0001 | c0021 | t0006 | g0103 | EUR | GBR | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG00140 | hp2 | a0001 | c0002 | t0104 | g0307 | EUR | GBR | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG00323 | hp1 | a0001 | c0011 | t0001 | g0278 | EUR | FIN | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG00323 | hp2 | a0001 | c0003 | t0003 | g0292 | EUR | FIN | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG00408 | hp1 | a0005 | c0022 | t0001 | g0094 | EAS | CHS | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG00408 | hp2 | a0001 | c0002 | t0091 | g0113 | EAS | CHS | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG00423 | hp1 | a0001 | c0002 | t0001 | g0119 | EAS | CHS | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG00423 | hp2 | a0002 | c0001 | t0002 | g0296 | EAS | CHS | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG00438 | hp1 | a0002 | c0001 | t0046 | g0012 | EAS | CHS | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG00438 | hp2 | a0001 | c0002 | t0009 | g0181 | EAS | CHS | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG00544 | hp1 | a0001 | c0002 | t0005 | g0257 | EAS | CHS | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG00544 | hp2 | a0002 | c0001 | t0032 | g0156 | EAS | CHS | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG00597 | hp1 | a0002 | c0001 | t0098 | g0299 | EAS | CHS | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG00597 | hp2 | a0003 | c0005 | t0043 | g0022 | EAS | CHS | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG00621 | hp1 | a0001 | c0002 | t0109 | g0312 | EAS | CHS | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG00621 | hp2 | a0002 | c0008 | t0068 | g0048 | EAS | CHS | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG00639 | hp1 | a0001 | c0002 | t0001 | g0093 | AMR | PUR | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG00639 | hp2 | a0001 | c0002 | t0009 | g0098 | AMR | PUR | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG00642 | hp1 | a0001 | c0002 | t0006 | g0141 | AMR | PUR | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG00642 | hp2 | a0001 | c0003 | t0006 | g0168 | AMR | PUR | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG00673 | hp1 | a0002 | c0001 | t0019 | g0160 | EAS | CHS | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG00673 | hp2 | a0002 | c0001 | t0001 | g0138 | EAS | CHS | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG00733 | hp1 | a0001 | c0002 | t0030 | g0243 | AMR | PUR | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG00733 | hp2 | a0002 | c0001 | t0018 | g0146 | AMR | PUR | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG00735 | hp1 | a0001 | c0002 | t0006 | g0238 | AMR | PUR | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG00735 | hp2 | a0001 | c0002 | t0003 | g0199 | AMR | PUR | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG00738 | hp1 | a0001 | c0002 | t0084 | g0231 | AMR | PUR | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG00738 | hp2 | a0002 | c0001 | t0005 | g0153 | AMR | PUR | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG00741 | hp1 | a0001 | c0004 | t0001 | g0104 | AMR | PUR | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG00741 | hp2 | a0001 | c0003 | t0036 | g0005 | AMR | PUR | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG01069 | hp1 | a0001 | c0002 | t0001 | g0120 | AMR | PUR | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG01069 | hp2 | a0001 | c0010 | t0004 | g0190 | AMR | PUR | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG01070 | hp1 | a0003 | c0005 | t0003 | g0241 | AMR | PUR | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG01070 | hp2 | a0004 | c0017 | t0001 | g0001 | AMR | PUR | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG01071 | hp1 | a0004 | c0017 | t0001 | g0001 | AMR | PUR | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG01071 | hp2 | a0001 | c0010 | t0004 | g0189 | AMR | PUR | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG01074 | hp1 | a0001 | c0002 | t0095 | g0072 | AMR | PUR | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG01074 | hp2 | a0006 | c0027 | t0011 | g0230 | AMR | PUR | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG01081 | hp1 | a0001 | c0003 | t0004 | g0099 | AMR | PUR | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG01081 | hp2 | a0001 | c0002 | t0001 | g0197 | AMR | PUR | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG01099 | hp1 | a0001 | c0003 | t0044 | g0011 | AMR | PUR | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG01099 | hp2 | a0001 | c0002 | t0009 | g0226 | AMR | PUR | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG01106 | hp1 | a0001 | c0003 | t0001 | g0063 | AMR | PUR | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG01106 | hp2 | a0001 | c0002 | t0010 | g0200 | AMR | PUR | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG01109 | hp1 | a0001 | c0039 | t0006 | g0108 | AMR | PUR | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG01109 | hp2 | a0001 | c0003 | t0065 | g0046 | AMR | PUR | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG01167 | hp1 | a0002 | c0001 | t0002 | g0126 | AMR | PUR | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG01167 | hp2 | a0001 | c0011 | t0001 | g0054 | AMR | PUR | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG01168 | hp1 | a0001 | c0002 | t0001 | g0150 | AMR | PUR | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG01168 | hp2 | a0001 | c0002 | t0040 | g0010 | AMR | PUR | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG01169 | hp1 | a0002 | c0001 | t0005 | g0129 | AMR | PUR | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG01169 | hp2 | a0001 | c0002 | t0001 | g0097 | AMR | PUR | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG01175 | hp1 | a0001 | c0002 | t0001 | g0191 | AMR | PUR | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG01175 | hp2 | a0001 | c0012 | t0001 | g0107 | AMR | PUR | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG01192 | hp1 | a0001 | c0002 | t0041 | g0017 | AMR | PUR | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG01192 | hp2 | a0001 | c0004 | t0026 | g0019 | AMR | PUR | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG01243 | hp1 | a0001 | c0003 | t0004 | g0100 | AMR | PUR | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG01243 | hp2 | a0001 | c0003 | t0074 | g0073 | AMR | PUR | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG01255 | hp1 | a0001 | c0003 | t0004 | g0228 | AMR | CLM | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG01255 | hp2 | a0001 | c0002 | t0003 | g0062 | AMR | CLM | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG01256 | hp1 | a0001 | c0003 | t0004 | g0225 | AMR | CLM | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG01256 | hp2 | a0002 | c0001 | t0002 | g0175 | AMR | CLM | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG01257 | hp1 | a0001 | c0002 | t0001 | g0251 | AMR | CLM | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG01257 | hp2 | a0002 | c0001 | t0008 | g0266 | AMR | CLM | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG01258 | hp1 | a0002 | c0001 | t0008 | g0265 | AMR | CLM | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG01258 | hp2 | a0002 | c0001 | t0002 | g0176 | AMR | CLM | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG01261 | hp1 | a0001 | c0016 | t0064 | g0042 | AMR | CLM | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG01261 | hp2 | a0001 | c0012 | t0006 | g0105 | AMR | CLM | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG01358 | hp1 | a0002 | c0001 | t0047 | g0025 | AMR | CLM | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG01358 | hp2 | a0001 | c0004 | t0004 | g0188 | AMR | CLM | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG01433 | hp1 | a0002 | c0001 | t0063 | g0039 | AMR | CLM | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG01433 | hp2 | a0002 | c0001 | t0004 | g0136 | AMR | CLM | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG01496 | hp1 | a0007 | c0035 | t0069 | g0043 | AMR | CLM | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG01496 | hp2 | a0001 | c0002 | t0006 | g0236 | AMR | CLM | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG01515 | hp1 | a0001 | c0003 | t0007 | g0055 | EUR | IBS | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG01515 | hp2 | a0001 | c0002 | t0031 | g0212 | EUR | IBS | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG01516 | hp1 | a0002 | c0001 | t0010 | g0263 | EUR | IBS | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG01516 | hp2 | a0001 | c0002 | t0001 | g0182 | EUR | IBS | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG01517 | hp1 | a0002 | c0001 | t0010 | g0264 | EUR | IBS | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG01517 | hp2 | a0001 | c0002 | t0031 | g0229 | EUR | IBS | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG01884 | hp1 | a0001 | c0016 | t0073 | g0071 | AFR | ACB | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG01884 | hp2 | a0001 | c0009 | t0007 | g0244 | AFR | ACB | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG01891 | hp1 | a0001 | c0004 | t0010 | g0060 | AFR | ACB | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG01891 | hp2 | a0001 | c0018 | t0003 | g0127 | AFR | ACB | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG01952 | hp1 | a0001 | c0003 | t0004 | g0057 | AMR | PEL | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG01952 | hp2 | a0002 | c0001 | t0056 | g0036 | AMR | PEL | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG01975 | hp1 | a0002 | c0001 | t0088 | g0281 | AMR | PEL | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG01975 | hp2 | a0001 | c0002 | t0001 | g0178 | AMR | PEL | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG01981 | hp1 | a0001 | c0002 | t0001 | g0140 | AMR | PEL | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG01981 | hp2 | a0002 | c0001 | t0007 | g0224 | AMR | PEL | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG01993 | hp1 | a0001 | c0002 | t0006 | g0111 | AMR | PEL | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG01993 | hp2 | a0001 | c0002 | t0012 | g0135 | AMR | PEL | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02004 | hp1 | a0008 | c0033 | t0002 | g0185 | AMR | PEL | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02004 | hp2 | a0002 | c0001 | t0001 | g0195 | AMR | PEL | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02027 | hp1 | a0001 | c0002 | t0016 | g0112 | EAS | KHV | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02027 | hp2 | a0002 | c0001 | t0002 | g0152 | EAS | KHV | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02040 | hp1 | a0003 | c0005 | t0003 | g0151 | EAS | KHV | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02040 | hp2 | a0002 | c0001 | t0009 | g0192 | EAS | KHV | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02055 | hp1 | a0009 | c0026 | t0061 | g0040 | AFR | ACB | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02055 | hp2 | a0003 | c0006 | t0101 | g0301 | AFR | ACB | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02056 | hp1 | a0002 | c0001 | t0107 | g0305 | EAS | KHV | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02056 | hp2 | a0002 | c0001 | t0048 | g0023 | EAS | KHV | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02071 | hp1 | a0002 | c0001 | t0021 | g0018 | EAS | KHV | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02071 | hp2 | a0010 | c0036 | t0002 | g0295 | EAS | KHV | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02074 | hp1 | a0002 | c0001 | t0009 | g0148 | EAS | KHV | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02074 | hp2 | a0001 | c0002 | t0009 | g0180 | EAS | KHV | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02129 | hp1 | a0001 | c0002 | t0002 | g0259 | EAS | KHV | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02129 | hp2 | a0001 | c0002 | t0015 | g0139 | EAS | KHV | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02132 | hp1 | a0003 | c0005 | t0002 | g0179 | EAS | KHV | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02132 | hp2 | a0002 | c0001 | t0003 | g0164 | EAS | KHV | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02135 | hp1 | a0001 | c0002 | t0021 | g0021 | EAS | KHV | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02135 | hp2 | a0001 | c0002 | t0052 | g0026 | EAS | KHV | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02145 | hp1 | a0001 | c0003 | t0067 | g0045 | AFR | ACB | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02145 | hp2 | a0001 | c0003 | t0007 | g0075 | AFR | ACB | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02165 | hp1 | a0001 | c0003 | t0002 | g0154 | EAS | CDX | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02165 | hp2 | a0002 | c0001 | t0002 | g0187 | EAS | CDX | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02257 | hp1 | a0001 | c0002 | t0001 | g0186 | AFR | ACB | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02257 | hp2 | a0011 | c0023 | t0012 | g0082 | AFR | ACB | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02258 | hp1 | a0001 | c0003 | t0102 | g0303 | AFR | ACB | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02258 | hp2 | a0001 | c0003 | t0083 | g0086 | AFR | ACB | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02280 | hp1 | a0001 | c0003 | t0076 | g0289 | AFR | ACB | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02280 | hp2 | a0001 | c0002 | t0001 | g0095 | AFR | ACB | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02451 | hp1 | a0003 | c0006 | t0006 | g0283 | AFR | ACB | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02451 | hp2 | a0001 | c0004 | t0011 | g0050 | AFR | ACB | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02523 | hp1 | a0001 | c0002 | t0009 | g0184 | EAS | KHV | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02523 | hp2 | a0002 | c0008 | t0003 | g0208 | EAS | KHV | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02572 | hp1 | a0001 | c0003 | t0022 | g0077 | AFR | GWD | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02572 | hp2 | a0001 | c0009 | t0022 | g0085 | AFR | GWD | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02622 | hp1 | a0001 | c0003 | t0017 | g0088 | AFR | GWD | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02622 | hp2 | a0001 | c0004 | t0017 | g0250 | AFR | GWD | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02630 | hp1 | a0001 | c0032 | t0018 | g0177 | AFR | GWD | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02630 | hp2 | a0001 | c0003 | t0007 | g0067 | AFR | GWD | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02647 | hp1 | a0001 | c0009 | t0007 | g0270 | AFR | GWD | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02647 | hp2 | a0001 | c0003 | t0004 | g0081 | AFR | GWD | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02717 | hp1 | a0001 | c0003 | t0110 | g0313 | AFR | GWD | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02717 | hp2 | a0001 | c0002 | t0011 | g0087 | AFR | GWD | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02723 | hp1 | a0001 | c0003 | t0010 | g0173 | AFR | GWD | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02723 | hp2 | a0001 | c0003 | t0022 | g0248 | AFR | GWD | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02735 | hp1 | a0002 | c0001 | t0002 | g0213 | SAS | PJL | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02735 | hp2 | a0002 | c0001 | t0001 | g0059 | SAS | PJL | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02738 | hp1 | a0001 | c0002 | t0051 | g0027 | SAS | PJL | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02738 | hp2 | a0001 | c0002 | t0050 | g0028 | SAS | PJL | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02809 | hp1 | a0001 | c0007 | t0071 | g0049 | AFR | GWD | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02809 | hp2 | a0002 | c0001 | t0066 | g0044 | AFR | GWD | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02818 | hp1 | a0001 | c0003 | t0012 | g0070 | AFR | GWD | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02818 | hp2 | a0001 | c0004 | t0028 | g0274 | AFR | GWD | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02886 | hp1 | a0001 | c0003 | t0075 | g0125 | AFR | GWD | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02886 | hp2 | a0001 | c0020 | t0008 | g0260 | AFR | GWD | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02896 | hp1 | a0013 | c0034 | t0007 | g0252 | AFR | GWD | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02896 | hp2 | a0001 | c0003 | t0025 | g0013 | AFR | GWD | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02965 | hp1 | a0001 | c0004 | t0016 | g0066 | AFR | ESN | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02965 | hp2 | a0001 | c0003 | t0010 | g0078 | AFR | ESN | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02970 | hp1 | a0001 | c0007 | t0007 | g0218 | AFR | ESN | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02970 | hp2 | a0001 | c0018 | t0078 | g0124 | AFR | ESN | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02976 | hp1 | a0001 | c0004 | t0028 | g0234 | AFR | ESN | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02976 | hp2 | a0001 | c0003 | t0099 | g0308 | AFR | ESN | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG03017 | hp1 | a0001 | c0002 | t0003 | g0277 | SAS | PJL | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG03017 | hp2 | a0001 | c0002 | t0001 | g0261 | SAS | PJL | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG03041 | hp1 | a0001 | c0019 | t0020 | g0235 | AFR | GWD | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG03041 | hp2 | a0001 | c0003 | t0010 | g0284 | AFR | GWD | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG03098 | hp1 | a0001 | c0003 | t0004 | g0193 | AFR | MSL | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG03098 | hp2 | a0002 | c0001 | t0008 | g0288 | AFR | MSL | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG03130 | hp1 | a0003 | c0006 | t0012 | g0090 | AFR | ESN | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG03130 | hp2 | a0001 | c0003 | t0090 | g0069 | AFR | ESN | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG03139 | hp1 | a0001 | c0003 | t0012 | g0053 | AFR | ESN | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG03139 | hp2 | a0001 | c0004 | t0015 | g0068 | AFR | ESN | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG03195 | hp1 | a0001 | c0003 | t0008 | g0233 | AFR | ESN | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG03195 | hp2 | a0014 | c0030 | t0072 | g0074 | AFR | ESN | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG03209 | hp1 | a0001 | c0004 | t0096 | g0297 | AFR | MSL | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG03209 | hp2 | a0001 | c0002 | t0018 | g0128 | AFR | MSL | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG03225 | hp1 | a0001 | c0013 | t0024 | g0123 | AFR | MSL | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG03225 | hp2 | a0001 | c0007 | t0042 | g0016 | AFR | MSL | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG03239 | hp1 | a0003 | c0006 | t0045 | g0008 | SAS | PJL | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG03239 | hp2 | a0001 | c0015 | t0001 | g0102 | SAS | PJL | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG03453 | hp1 | a0001 | c0003 | t0023 | g0240 | AFR | MSL | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG03453 | hp2 | a0001 | c0003 | t0082 | g0174 | AFR | MSL | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG03486 | hp1 | a0001 | c0038 | t0094 | g0287 | AFR | MSL | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG03486 | hp2 | a0003 | c0006 | t0001 | g0246 | AFR | MSL | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG03490 | hp1 | a0001 | c0002 | t0034 | g0003 | SAS | PJL | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG03490 | hp2 | a0001 | c0010 | t0001 | g0286 | SAS | PJL | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG03491 | hp1 | a0001 | c0004 | t0014 | g0163 | SAS | PJL | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG03491 | hp2 | a0001 | c0002 | t0009 | g0132 | SAS | PJL | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG03492 | hp1 | a0001 | c0010 | t0001 | g0285 | SAS | PJL | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG03492 | hp2 | a0001 | c0002 | t0085 | g0131 | SAS | PJL | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG03516 | hp1 | a0001 | c0003 | t0003 | g0253 | AFR | ESN | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG03516 | hp2 | a0015 | c0025 | t0004 | g0282 | AFR | ESN | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG03540 | hp1 | a0001 | c0002 | t0030 | g0133 | AFR | GWD | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG03540 | hp2 | a0001 | c0003 | t0004 | g0254 | AFR | GWD | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG03579 | hp1 | a0001 | c0007 | t0008 | g0237 | AFR | MSL | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG03579 | hp2 | a0001 | c0003 | t0023 | g0239 | AFR | MSL | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG03654 | hp1 | a0016 | c0029 | t0001 | g0206 | SAS | PJL | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG03654 | hp2 | a0002 | c0001 | t0008 | g0056 | SAS | PJL | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG03669 | hp1 | a0001 | c0002 | t0100 | g0300 | SAS | PJL | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG03669 | hp2 | a0017 | c0037 | t0005 | g0121 | SAS | PJL | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG03688 | hp1 | a0001 | c0004 | t0026 | g0014 | SAS | STU | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG03688 | hp2 | a0001 | c0002 | t0006 | g0275 | SAS | STU | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG03704 | hp1 | a0001 | c0002 | t0009 | g0227 | SAS | PJL | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG03704 | hp2 | a0002 | c0001 | t0002 | g0267 | SAS | PJL | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG03710 | hp1 | a0002 | c0001 | t0055 | g0033 | SAS | PJL | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG03710 | hp2 | a0002 | c0001 | t0057 | g0034 | SAS | PJL | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG03831 | hp1 | a0001 | c0002 | t0009 | g0196 | SAS | BEB | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG03831 | hp2 | a0001 | c0003 | t0010 | g0169 | SAS | BEB | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG03834 | hp1 | a0001 | c0003 | t0080 | g0143 | SAS | BEB | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG03834 | hp2 | a0002 | c0001 | t0092 | g0217 | SAS | BEB | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG03927 | hp1 | a0002 | c0001 | t0027 | g0030 | SAS | BEB | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG03927 | hp2 | a0002 | c0001 | t0049 | g0024 | SAS | BEB | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG03942 | hp1 | a0002 | c0001 | t0005 | g0110 | SAS | BEB | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG03942 | hp2 | a0002 | c0001 | t0039 | g0015 | SAS | BEB | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG04115 | hp1 | a0003 | c0006 | t0005 | g0280 | SAS | STU | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG04115 | hp2 | a0002 | c0001 | t0006 | g0142 | SAS | STU | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG04184 | hp1 | a0001 | c0004 | t0103 | g0310 | SAS | BEB | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG04184 | hp2 | a0001 | c0002 | t0105 | g0304 | SAS | BEB | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG04199 | hp1 | a0002 | c0001 | t0019 | g0279 | SAS | STU | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG04199 | hp2 | a0002 | c0001 | t0019 | g0223 | SAS | STU | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG04204 | hp1 | a0001 | c0002 | t0037 | g0007 | SAS | STU | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG04204 | hp2 | a0003 | c0006 | t0108 | g0309 | SAS | STU | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG04228 | hp1 | a0001 | c0003 | t0111 | g0314 | SAS | STU | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG04228 | hp2 | a0003 | c0005 | t0014 | g0222 | SAS | STU | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA18522 | hp1 | a0001 | c0007 | t0012 | g0079 | AFR | YRI | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA18522 | hp2 | a0001 | c0003 | t0023 | g0080 | AFR | YRI | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA18612 | hp1 | a0002 | c0001 | t0002 | g0117 | EAS | CHB | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA18612 | hp2 | a0003 | c0005 | t0003 | g0198 | EAS | CHB | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA18906 | hp1 | a0002 | c0001 | t0011 | g0002 | AFR | YRI | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA18906 | hp2 | a0001 | c0004 | t0077 | g0249 | AFR | YRI | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA18950 | hp1 | a0002 | c0001 | t0093 | g0158 | EAS | JPT | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA18950 | hp2 | a0002 | c0001 | t0002 | g0290 | EAS | JPT | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA18951 | hp1 | a0002 | c0001 | t0005 | g0147 | EAS | JPT | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA18951 | hp2 | a0001 | c0002 | t0005 | g0258 | EAS | JPT | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA18960 | hp1 | a0002 | c0001 | t0003 | g0161 | EAS | JPT | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA18960 | hp2 | a0001 | c0002 | t0002 | g0294 | EAS | JPT | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA18962 | hp1 | a0001 | c0002 | t0003 | g0166 | EAS | JPT | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA18962 | hp2 | a0002 | c0001 | t0005 | g0194 | EAS | JPT | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA18964 | hp1 | a0001 | c0002 | t0058 | g0035 | EAS | JPT | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA18964 | hp2 | a0001 | c0003 | t0035 | g0004 | EAS | JPT | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA18966 | hp1 | a0002 | c0008 | t0017 | g0210 | EAS | JPT | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA18966 | hp2 | a0002 | c0001 | t0018 | g0262 | EAS | JPT | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA18969 | hp1 | a0002 | c0001 | t0015 | g0205 | EAS | JPT | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA18969 | hp2 | a0003 | c0005 | t0020 | g0215 | EAS | JPT | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA18970 | hp1 | a0002 | c0001 | t0002 | g0271 | EAS | JPT | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA18970 | hp2 | a0003 | c0005 | t0016 | g0162 | EAS | JPT | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA18971 | hp1 | a0002 | c0001 | t0002 | g0276 | EAS | JPT | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA18971 | hp2 | a0002 | c0001 | t0002 | g0159 | EAS | JPT | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA18974 | hp1 | a0003 | c0005 | t0032 | g0170 | EAS | JPT | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA18974 | hp2 | a0018 | c0024 | t0079 | g0203 | EAS | JPT | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA18978 | hp1 | a0002 | c0001 | t0059 | g0037 | EAS | JPT | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA18978 | hp2 | a0002 | c0001 | t0005 | g0214 | EAS | JPT | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA18979 | hp1 | a0001 | c0002 | t0003 | g0144 | EAS | JPT | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA18979 | hp2 | a0002 | c0001 | t0029 | g0155 | EAS | JPT | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA18983 | hp1 | a0003 | c0005 | t0003 | g0114 | EAS | JPT | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA18983 | hp2 | a0002 | c0001 | t0002 | g0291 | EAS | JPT | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA18986 | hp1 | a0001 | c0002 | t0002 | g0221 | EAS | JPT | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA18986 | hp2 | a0002 | c0001 | t0002 | g0171 | EAS | JPT | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA18997 | hp1 | a0002 | c0001 | t0021 | g0020 | EAS | JPT | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA18997 | hp2 | a0001 | c0002 | t0033 | g0306 | EAS | JPT | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA18998 | hp1 | a0001 | c0002 | t0005 | g0115 | EAS | JPT | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA18998 | hp2 | a0002 | c0001 | t0002 | g0272 | EAS | JPT | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA19000 | hp1 | a0002 | c0001 | t0062 | g0041 | EAS | JPT | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA19000 | hp2 | a0002 | c0001 | t0106 | g0311 | EAS | JPT | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA19003 | hp1 | a0002 | c0001 | t0002 | g0293 | EAS | JPT | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA19003 | hp2 | a0002 | c0001 | t0013 | g0172 | EAS | JPT | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA19005 | hp1 | a0002 | c0001 | t0038 | g0006 | EAS | JPT | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA19005 | hp2 | a0001 | c0002 | t0015 | g0118 | EAS | JPT | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA19007 | hp1 | a0002 | c0001 | t0005 | g0220 | EAS | JPT | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA19007 | hp2 | a0001 | c0002 | t0005 | g0165 | EAS | JPT | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA19009 | hp1 | a0001 | c0002 | t0002 | g0109 | EAS | JPT | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA19009 | hp2 | a0001 | c0002 | t0054 | g0032 | EAS | JPT | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA19010 | hp1 | a0002 | c0041 | t0013 | g0255 | EAS | JPT | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA19010 | hp2 | a0001 | c0002 | t0001 | g0204 | EAS | JPT | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA19011 | hp1 | a0002 | c0001 | t0086 | g0149 | EAS | JPT | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA19011 | hp2 | a0002 | c0001 | t0001 | g0116 | EAS | JPT | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA19012 | hp1 | a0002 | c0001 | t0002 | g0157 | EAS | JPT | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA19012 | hp2 | a0002 | c0001 | t0089 | g0219 | EAS | JPT | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA19030 | hp1 | a0001 | c0003 | t0011 | g0052 | AFR | LWK | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA19030 | hp2 | a0001 | c0011 | t0006 | g0268 | AFR | LWK | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA19043 | hp1 | a0001 | c0003 | t0007 | g0089 | AFR | LWK | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA19043 | hp2 | a0001 | c0004 | t0007 | g0065 | AFR | LWK | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA19056 | hp1 | a0001 | c0002 | t0019 | g0273 | EAS | JPT | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA19056 | hp2 | a0002 | c0001 | t0017 | g0134 | EAS | JPT | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA19060 | hp1 | a0001 | c0002 | t0033 | g0302 | EAS | JPT | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA19060 | hp2 | a0002 | c0001 | t0070 | g0047 | EAS | JPT | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA19067 | hp1 | a0002 | c0001 | t0013 | g0122 | EAS | JPT | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA19067 | hp2 | a0003 | c0005 | t0020 | g0167 | EAS | JPT | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA19074 | hp1 | a0002 | c0028 | t0020 | g0091 | EAS | JPT | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA19074 | hp2 | a0002 | c0001 | t0013 | g0256 | EAS | JPT | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA19084 | hp1 | a0002 | c0001 | t0060 | g0038 | EAS | JPT | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA19084 | hp2 | a0002 | c0008 | t0097 | g0298 | EAS | JPT | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA19089 | hp1 | a0001 | c0040 | t0005 | g0207 | EAS | JPT | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA19089 | hp2 | a0002 | c0001 | t0005 | g0092 | EAS | JPT | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA19090 | hp1 | a0002 | c0008 | t0013 | g0209 | EAS | JPT | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA19090 | hp2 | a0001 | c0015 | t0027 | g0029 | EAS | JPT | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA19240 | hp1 | a0001 | c0003 | t0004 | g0076 | AFR | YRI | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA19240 | hp2 | a0001 | c0013 | t0024 | g0137 | AFR | YRI | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA20129 | hp1 | a0002 | c0001 | t0024 | g0245 | AFR | ASW | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA20129 | hp2 | a0001 | c0002 | t0007 | g0269 | AFR | ASW | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA20752 | hp1 | a0002 | c0001 | t0002 | g0183 | EUR | TSI | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA20752 | hp2 | a0001 | c0002 | t0003 | g0058 | EUR | TSI | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA20805 | hp1 | a0003 | c0005 | t0003 | g0101 | EUR | TSI | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA20805 | hp2 | a0001 | c0002 | t0001 | g0211 | EUR | TSI | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG01123 | hp1 | a0001 | c0002 | t0001 | g0201 | AMR | CLM | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG01123 | hp2 | a0001 | c0012 | t0014 | g0106 | AMR | CLM | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02109 | hp1 | a0001 | c0004 | t0008 | g0051 | AFR | ACB | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02109 | hp2 | a0001 | c0003 | t0025 | g0009 | AFR | ACB | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02486 | hp1 | a0012 | c0031 | t0029 | g0130 | AFR | ACB | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02486 | hp2 | a0001 | c0004 | t0008 | g0064 | AFR | ACB | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02559 | hp1 | a0001 | c0002 | t0014 | g0202 | AFR | ACB | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG02559 | hp2 | a0001 | c0004 | t0016 | g0083 | AFR | ACB | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG03471 | hp1 | a0001 | c0014 | t0087 | g0242 | AFR | MSL | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG03471 | hp2 | a0001 | c0004 | t0081 | g0084 | AFR | MSL | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG06807 | hp1 | a0001 | c0014 | t0008 | g0232 | AFR | USA | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
HG06807 | hp2 | a0002 | c0001 | t0002 | g0096 | AFR | USA | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA20300 | hp1 | a0001 | c0009 | t0004 | g0247 | AFR | USA | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA20300 | hp2 | a0003 | c0006 | t0014 | g0216 | AFR | USA | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA21309 | hp1 | a0001 | c0003 | t0001 | g0061 | AFR | LWK | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
NA21309 | hp2 | a0002 | c0001 | t0011 | g0002 | AFR | LWK | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
homoSapiens | chm13v2 | a0002 | c0001 | t0053 | g0031 | REF | REF | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
homoSapiens | grch38p0 | a0002 | c0001 | t0002 | g0145 | REF | REF | SHANK1_chr19_50654255_50724802 | SHANK1 | chr19 | 50654255 | 50724802 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr19:50662180 | C | A | 1 | a0009 | 1 | HG02055.hp1 | missense_variant | MODERATE | c.6271G>T | p.Gly2091Cys | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 24/24 | 6711/9636 | 6271/6486 | 2091/2161 | chr19 | 50662180 | |||
chr19:50662486 | C | T | 1 | a0006 | 1 | HG01074.hp2 | missense_variant | MODERATE | c.5965G>A | p.Glu1989Lys | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 24/24 | 6405/9636 | 5965/6486 | 1989/2161 | chr19 | 50662486 | |||
chr19:50662495 | C | T | 1 | a0012 | 1 | HG02486.hp1 | missense_variant | MODERATE | c.5956G>A | p.Val1986Met | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 24/24 | 6396/9636 | 5956/6486 | 1986/2161 | chr19 | 50662495 | |||
chr19:50662518 | G | A | 2 | a0007 a0016 |
2 | HG01496.hp1 HG03654.hp1 |
missense_variant | MODERATE | c.5933C>T | p.Thr1978Met | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 24/24 | 6373/9636 | 5933/6486 | 1978/2161 | chr19 | 50662518 | |||
chr19:50667113 | G | T | 1 | a0015 | 1 | HG03516.hp2 | missense_variant | MODERATE | c.4847C>A | p.Thr1616Asn | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/24 | 5287/9636 | 4847/6486 | 1616/2161 | chr19 | 50667113 | |||
chr19:50667374 | G | C | 1 | a0004 | 2 | HG01070.hp2 HG01071.hp1 |
missense_variant | MODERATE | c.4586C>G | p.Pro1529Arg | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/24 | 5026/9636 | 4586/6486 | 1529/2161 | chr19 | 50667374 | |||
chr19:50667449 | A | G | 14 | a0001 a0003 a0004 others(11): Show |
218 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(215): Show |
missense_variant | MODERATE | c.4511T>C | p.Val1504Ala | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/24 | 4951/9636 | 4511/6486 | 1504/2161 | chr19 | 50667449 | |||
chr19:50667971 | G | C | 1 | a0014 | 1 | HG03195.hp2 | missense_variant | MODERATE | c.3989C>G | p.Thr1330Ser | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/24 | 4429/9636 | 3989/6486 | 1330/2161 | chr19 | 50667971 | |||
chr19:50668533 | C | G | 1 | a0018 | 1 | NA18974.hp2 | missense_variant | MODERATE | c.3427G>C | p.Ala1143Pro | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/24 | 3867/9636 | 3427/6486 | 1143/2161 | chr19 | 50668533 | |||
chr19:50668718 | G | A | 1 | a0008 | 1 | HG02004.hp1 | missense_variant | MODERATE | c.3242C>T | p.Ala1081Val | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/24 | 3682/9636 | 3242/6486 | 1081/2161 | chr19 | 50668718 | |||
chr19:50668923 | G | A | 1 | a0017 | 1 | HG03669.hp2 | missense_variant | MODERATE | c.3037C>T | p.Pro1013Ser | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/24 | 3477/9636 | 3037/6486 | 1013/2161 | chr19 | 50668923 | |||
chr19:50669024 | C | A | 1 | a0013 | 1 | HG02896.hp1 | missense_variant | MODERATE | c.2936G>T | p.Arg979Leu | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/24 | 3376/9636 | 2936/6486 | 979/2161 | chr19 | 50669024 | |||
chr19:50669148 | C | T | 1 | a0011 | 1 | HG02257.hp2 | missense_variant | MODERATE | c.2812G>A | p.Val938Ile | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/24 | 3252/9636 | 2812/6486 | 938/2161 | chr19 | 50669148 | |||
chr19:50669269 | G | C | 4 | a0003 a0007 a0010 others(1): Show |
23 | HG00597.hp2 HG01070.hp1 HG01496.hp1 others(20): Show |
missense_variant | MODERATE | c.2691C>G | p.Asp897Glu | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/24 | 3131/9636 | 2691/6486 | 897/2161 | chr19 | 50669269 | |||
chr19:50672071 | C | T | 1 | a0005 | 1 | HG00408.hp1 | missense_variant | MODERATE | c.2621G>A | p.Arg874His | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 22/24 | 3061/9636 | 2621/6486 | 874/2161 | chr19 | 50672071 | |||
chr19:50716961 | G | A | 1 | a0001 | 1 | HG01074.hp1 | splice_region_variant | LOW | c.-42C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 2/24 | chr19 | 50716961 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr19:50662163 | C | T | 1 | a0001c0009 | 4 | HG01884.hp2 HG02572.hp2 HG02647.hp1 others(1): Show |
synonymous_variant | LOW | c.6288G>A | p.Gly2096Gly | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 24/24 | 6728/9636 | 6288/6486 | 2096/2161 | chr19 | 50662163 | |||
chr19:50662304 | G | A | 1 | a0002c0028 | 1 | NA19074.hp1 | synonymous_variant | LOW | c.6147C>T | p.Pro2049Pro | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 24/24 | 6587/9636 | 6147/6486 | 2049/2161 | chr19 | 50662304 | |||
chr19:50666827 | C | A | 1 | a0001c0016 | 2 | HG01261.hp1 HG01884.hp1 |
synonymous_variant | LOW | c.5133G>T | p.Gly1711Gly | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/24 | 5573/9636 | 5133/6486 | 1711/2161 | chr19 | 50666827 | |||
chr19:50667721 | C | T | 3 | a0001c0011 a0003c0006 a0007c0035 |
12 | HG00323.hp1 HG01167.hp2 HG01496.hp1 others(9): Show |
synonymous_variant | LOW | c.4239G>A | p.Pro1413Pro | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/24 | 4679/9636 | 4239/6486 | 1413/2161 | chr19 | 50667721 | |||
chr19:50667931 | G | A | 12 | a0001c0002 a0001c0012 a0001c0015 others(9): Show |
93 | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(90): Show |
synonymous_variant | LOW | c.4029C>T | p.Thr1343Thr | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/24 | 4469/9636 | 4029/6486 | 1343/2161 | chr19 | 50667931 | |||
chr19:50668042 | G | A | 1 | a0001c0007 | 5 | HG02809.hp1 HG02970.hp1 HG03225.hp2 others(2): Show |
synonymous_variant | LOW | c.3918C>T | p.Ser1306Ser | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/24 | 4358/9636 | 3918/6486 | 1306/2161 | chr19 | 50668042 | |||
chr19:50668555 | C | A | 1 | a0001c0032 | 1 | HG02630.hp1 | synonymous_variant | LOW | c.3405G>T | p.Pro1135Pro | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/24 | 3845/9636 | 3405/6486 | 1135/2161 | chr19 | 50668555 | |||
chr19:50668600 | G | A | 9 | a0001c0004 a0001c0007 a0001c0014 others(6): Show |
44 | HG00597.hp2 HG00741.hp1 HG01070.hp1 others(41): Show |
synonymous_variant | LOW | c.3360C>T | p.Pro1120Pro | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/24 | 3800/9636 | 3360/6486 | 1120/2161 | chr19 | 50668600 | |||
chr19:50688904 | C | G | 1 | a0001c0015 | 2 | HG03239.hp2 NA19090.hp2 |
synonymous_variant | LOW | c.2112G>C | p.Ser704Ser | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 17/24 | 2552/9636 | 2112/6486 | 704/2161 | chr19 | 50688904 | |||
chr19:50697636 | G | A | 1 | a0001c0018 | 2 | HG01891.hp2 HG02970.hp2 |
synonymous_variant | LOW | c.1890C>T | p.Leu630Leu | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 14/24 | 2330/9636 | 1890/6486 | 630/2161 | chr19 | 50697636 | |||
chr19:50702513 | G | T | 1 | a0001c0039 | 1 | HG01109.hp1 | synonymous_variant | LOW | c.1701C>A | p.Ala567Ala | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 12/24 | 2141/9636 | 1701/6486 | 567/2161 | chr19 | 50702513 | |||
chr19:50703529 | G | A | 1 | a0001c0038 | 1 | HG03486.hp1 | synonymous_variant | LOW | c.1524C>T | p.Asp508Asp | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 11/24 | 1964/9636 | 1524/6486 | 508/2161 | chr19 | 50703529 | |||
chr19:50703715 | G | T | 1 | a0001c0021 | 1 | HG00140.hp1 | synonymous_variant | LOW | c.1338C>A | p.Pro446Pro | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 11/24 | 1778/9636 | 1338/6486 | 446/2161 | chr19 | 50703715 | |||
chr19:50704135 | G | T | 1 | a0001c0014 | 2 | HG03471.hp1 HG06807.hp1 |
synonymous_variant | LOW | c.1207C>A | p.Arg403Arg | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 10/24 | 1647/9636 | 1207/6486 | 403/2161 | chr19 | 50704135 | |||
chr19:50704443 | G | A | 3 | a0001c0010 a0001c0012 a0001c0039 |
8 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(5): Show |
synonymous_variant | LOW | c.1149C>T | p.Pro383Pro | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 9/24 | 1589/9636 | 1149/6486 | 383/2161 | chr19 | 50704443 | |||
chr19:50712112 | C | T | 2 | a0001c0013 a0001c0020 |
3 | HG02886.hp2 HG03225.hp1 NA19240.hp2 |
splice_region_variant&synonymous_variant | LOW | c.795G>A | p.Ala265Ala | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 7/24 | 1235/9636 | 795/6486 | 265/2161 | chr19 | 50712112 | |||
chr19:50713921 | G | A | 2 | a0001c0040 a0002c0008 |
6 | HG00621.hp2 HG02523.hp2 NA18966.hp1 others(3): Show |
synonymous_variant | LOW | c.669C>T | p.Thr223Thr | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 6/24 | 1109/9636 | 669/6486 | 223/2161 | chr19 | 50713921 | |||
chr19:50714240 | C | T | 1 | a0001c0019 | 1 | HG03041.hp1 | synonymous_variant | LOW | c.582G>A | p.Lys194Lys | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 5/24 | 1022/9636 | 582/6486 | 194/2161 | chr19 | 50714240 | |||
chr19:50716731 | G | A | 1 | a0002c0041 | 1 | NA19010.hp1 | synonymous_variant | LOW | c.189C>T | p.Ser63Ser | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 2/24 | 629/9636 | 189/6486 | 63/2161 | chr19 | 50716731 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr19:50659361 | G | A | 1 | a0001c0003t0083 | 1 | HG02258.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2604C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 24/24 | 2604 | chr19 | 50659361 | ||||||
chr19:50659499 | G | A | 156 | a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 others(153): Show |
240 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(237): Show |
3_prime_UTR_variant | MODIFIER | c.*2466C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 24/24 | 2466 | chr19 | 50659499 | ||||||
chr19:50659660 | T | C | 1 | a0001c0002t0084 | 1 | HG00738.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2305A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 24/24 | 2305 | chr19 | 50659660 | ||||||
chr19:50659780 | C | A | 1 | a0002c0001t0088 | 1 | HG01975.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2185G>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 24/24 | 2185 | chr19 | 50659780 | ||||||
chr19:50659912 | C | A | 1 | a0001c0018t0078 | 1 | HG02970.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2053G>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 24/24 | 2053 | chr19 | 50659912 | ||||||
chr19:50660049 | G | T | 55 | a0001c0002t0001 a0001c0002t0006 a0001c0002t0014 others(52): Show |
89 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(86): Show |
3_prime_UTR_variant | MODIFIER | c.*1916C>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 24/24 | 1916 | chr19 | 50660049 | ||||||
chr19:50660089 | G | A | 1 | a0001c0003t0075 | 1 | HG02886.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1876C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 24/24 | 1876 | chr19 | 50660089 | ||||||
chr19:50660118 | TG | T | 97 | a0001c0002t0003 a0001c0002t0007 a0001c0002t0009 others(94): Show |
147 | HG00323.hp2 HG00408.hp2 HG00438.hp2 others(144): Show |
3_prime_UTR_variant | MODIFIER | c.*1846delC | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 24/24 | 1846 | chr19 | 50660118 | ||||||
chr19:50660182 | G | A | 1 | a0001c0018t0078 | 1 | HG02970.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1783C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 24/24 | 1783 | chr19 | 50660182 | ||||||
chr19:50660188 | G | T | 1 | a0001c0003t0074 | 1 | HG01243.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1777C>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 24/24 | 1777 | chr19 | 50660188 | ||||||
chr19:50660190 | G | A | 3 | a0001c0003t0102 a0001c0004t0081 a0001c0038t0094 |
3 | HG02258.hp1 HG03471.hp2 HG03486.hp1 |
3_prime_UTR_variant | MODIFIER | c.*1775C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 24/24 | 1775 | chr19 | 50660190 | ||||||
chr19:50660213 | C | CGGGAATA others(10): Show |
44 | a0001c0002t0001 a0001c0002t0006 a0001c0002t0014 others(41): Show |
73 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(70): Show |
3_prime_UTR_variant | MODIFIER | c.*1735_*1751dupTCTC others(13): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 24/24 | 1751 | chr19 | 50660213 | ||||||
chr19:50660367 | A | T | 22 | a0001c0002t0015 a0001c0002t0016 a0001c0002t0058 others(19): Show |
24 | HG00408.hp2 HG02027.hp1 HG02129.hp2 others(21): Show |
3_prime_UTR_variant | MODIFIER | c.*1598T>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 24/24 | 1598 | chr19 | 50660367 | ||||||
chr19:50660393 | G | A | 2 | a0001c0003t0023 a0001c0003t0099 |
4 | HG02976.hp2 HG03453.hp1 HG03579.hp2 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*1572C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 24/24 | 1572 | chr19 | 50660393 | ||||||
chr19:50660453 | G | T | 1 | a0001c0003t0080 | 1 | HG03834.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1512C>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 24/24 | 1512 | chr19 | 50660453 | ||||||
chr19:50660500 | G | A | 1 | a0001c0003t0082 | 1 | HG03453.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1465C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 24/24 | 1465 | chr19 | 50660500 | ||||||
chr19:50660527 | AAAAT | A | 3 | a0001c0003t0023 a0001c0003t0099 a0001c0004t0028 |
6 | HG02818.hp2 HG02976.hp1 HG02976.hp2 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*1434_*1437delATTT | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 24/24 | 1434 | chr19 | 50660527 | ||||||
chr19:50660577 | G | A | 29 | a0001c0002t0003 a0001c0002t0009 a0001c0002t0012 others(26): Show |
53 | HG00323.hp2 HG00438.hp2 HG00597.hp2 others(50): Show |
3_prime_UTR_variant | MODIFIER | c.*1388C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 24/24 | 1388 | chr19 | 50660577 | ||||||
chr19:50660651 | C | T | 9 | a0001c0002t0018 a0001c0004t0026 a0001c0004t0103 others(6): Show |
13 | HG00621.hp2 HG00733.hp2 HG01192.hp2 others(10): Show |
3_prime_UTR_variant | MODIFIER | c.*1314G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 24/24 | 1314 | chr19 | 50660651 | ||||||
chr19:50660674 | A | T | 1 | a0001c0003t0074 | 1 | HG01243.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1291T>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 24/24 | 1291 | chr19 | 50660674 | ||||||
chr19:50660722 | T | TG | 48 | a0001c0002t0005 a0001c0002t0006 a0001c0002t0009 others(45): Show |
73 | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(70): Show |
3_prime_UTR_variant | MODIFIER | c.*1242dupC | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 24/24 | 1242 | chr19 | 50660722 | ||||||
chr19:50660722 | T | TGG | 30 | a0001c0002t0007 a0001c0002t0015 a0001c0002t0018 others(27): Show |
39 | HG00621.hp2 HG00673.hp1 HG00733.hp2 others(36): Show |
3_prime_UTR_variant | MODIFIER | c.*1241_*1242dupCC | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 24/24 | 1242 | chr19 | 50660722 | ||||||
chr19:50660722 | T | TGGG | 23 | a0001c0002t0016 a0001c0002t0091 a0001c0003t0008 others(20): Show |
31 | HG00408.hp2 HG01192.hp2 HG01257.hp2 others(28): Show |
3_prime_UTR_variant | MODIFIER | c.*1240_*1242dupCCC | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 24/24 | 1242 | chr19 | 50660722 | ||||||
chr19:50660722 | T | TGGGG | 17 | a0001c0003t0004 a0001c0003t0017 a0001c0003t0067 others(14): Show |
26 | HG01069.hp2 HG01071.hp2 HG01081.hp1 others(23): Show |
3_prime_UTR_variant | MODIFIER | c.*1239_*1242dupCCCC | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 24/24 | 1242 | chr19 | 50660722 | ||||||
chr19:50660728 | G | GT | 3 | a0001c0003t0023 a0001c0003t0099 a0001c0004t0028 |
6 | HG02818.hp2 HG02976.hp1 HG02976.hp2 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*1236_*1237insA | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 24/24 | 1236 | chr19 | 50660728 | ||||||
chr19:50660765 | T | A | 26 | a0001c0002t0003 a0001c0002t0009 a0001c0002t0012 others(23): Show |
47 | HG00323.hp2 HG00438.hp2 HG00597.hp2 others(44): Show |
3_prime_UTR_variant | MODIFIER | c.*1200A>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 24/24 | 1200 | chr19 | 50660765 | ||||||
chr19:50661154 | G | A | 9 | a0001c0002t0018 a0001c0004t0026 a0001c0004t0103 others(6): Show |
13 | HG00621.hp2 HG00733.hp2 HG01192.hp2 others(10): Show |
3_prime_UTR_variant | MODIFIER | c.*811C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 24/24 | 811 | chr19 | 50661154 | ||||||
chr19:50661203 | C | T | 5 | a0002c0001t0032 a0002c0001t0048 a0002c0001t0086 others(2): Show |
5 | HG00544.hp2 HG02056.hp2 NA18974.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*762G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 24/24 | 762 | chr19 | 50661203 | ||||||
chr19:50661546 | G | A | 21 | a0001c0002t0003 a0001c0002t0009 a0001c0002t0030 others(18): Show |
42 | HG00140.hp2 HG00323.hp2 HG00438.hp2 others(39): Show |
3_prime_UTR_variant | MODIFIER | c.*419C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 24/24 | 419 | chr19 | 50661546 | ||||||
chr19:50661682 | T | C | 1 | a0003c0006t0108 | 1 | HG04204.hp2 | 3_prime_UTR_variant | MODIFIER | c.*283A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 24/24 | 283 | chr19 | 50661682 | ||||||
chr19:50661724 | C | A | 2 | a0001c0003t0044 a0007c0035t0069 |
2 | HG01099.hp1 HG01496.hp1 |
3_prime_UTR_variant | MODIFIER | c.*241G>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 24/24 | 241 | chr19 | 50661724 | ||||||
chr19:50661739 | TCA | T | 141 | a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 others(138): Show |
224 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(221): Show |
3_prime_UTR_variant | MODIFIER | c.*224_*225delTG | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 24/24 | 224 | chr19 | 50661739 | ||||||
chr19:50661771 | C | T | 3 | a0001c0003t0022 a0001c0009t0022 a0001c0016t0073 |
4 | HG01884.hp1 HG02572.hp1 HG02572.hp2 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*194G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 24/24 | 194 | chr19 | 50661771 | ||||||
chr19:50716930 | C | T | 1 | a0014c0030t0072 | 1 | HG03195.hp2 | 5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-11G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 2/24 | chr19 | 50716930 | |||||||
chr19:50719453 | T | TC | 7 | a0001c0004t0096 a0001c0007t0071 a0002c0001t0047 others(4): Show |
7 | HG00597.hp1 HG01358.hp1 HG02056.hp2 others(4): Show |
5_prime_UTR_variant | MODIFIER | c.-92dupG | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 1/24 | 2535 | chr19 | 50719453 | ||||||
chr19:50719460 | T | C | 4 | a0001c0002t0109 a0001c0003t0035 a0001c0015t0027 others(1): Show |
4 | HG00621.hp1 HG03927.hp1 NA18964.hp2 others(1): Show |
5_prime_UTR_variant | MODIFIER | c.-98A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 1/24 | 2541 | chr19 | 50719460 | ||||||
chr19:50719460 | T | TC | 18 | a0001c0002t0033 a0001c0002t0050 a0001c0002t0051 others(15): Show |
19 | HG00140.hp2 HG01433.hp1 HG02055.hp1 others(16): Show |
5_prime_UTR_variant | MODIFIER | c.-99dupG | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 1/24 | 2542 | chr19 | 50719460 | ||||||
chr19:50719467 | A | AC | 7 | a0001c0003t0065 a0001c0003t0067 a0001c0007t0071 others(4): Show |
7 | HG00621.hp2 HG01109.hp2 HG01496.hp1 others(4): Show |
5_prime_UTR_variant | MODIFIER | c.-106dupG | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 1/24 | 2549 | chr19 | 50719467 | ||||||
chr19:50719467 | A | C | 1 | a0001c0016t0064 | 1 | HG01261.hp1 | 5_prime_UTR_variant | MODIFIER | c.-105T>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 1/24 | 2548 | chr19 | 50719467 | ||||||
chr19:50719474 | A | AC | 11 | a0001c0002t0037 a0001c0002t0058 a0001c0003t0036 others(8): Show |
11 | HG00741.hp2 HG01433.hp1 HG01952.hp2 others(8): Show |
5_prime_UTR_variant | MODIFIER | c.-113dupG | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 1/24 | 2556 | chr19 | 50719474 | ||||||
chr19:50719474 | A | C | 2 | a0001c0003t0035 a0002c0001t0055 |
2 | HG03710.hp1 NA18964.hp2 |
5_prime_UTR_variant | MODIFIER | c.-112T>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 1/24 | 2555 | chr19 | 50719474 | ||||||
chr19:50719481 | C | G | 1 | a0001c0002t0054 | 1 | NA19009.hp2 | 5_prime_UTR_variant | MODIFIER | c.-119G>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 1/24 | 2562 | chr19 | 50719481 | ||||||
chr19:50719485 | G | C | 1 | a0001c0003t0110 | 1 | HG02717.hp1 | 5_prime_UTR_variant | MODIFIER | c.-123C>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 1/24 | 2566 | chr19 | 50719485 | ||||||
chr19:50719587 | A | AC | 24 | a0001c0002t0021 a0001c0002t0037 a0001c0002t0040 others(21): Show |
27 | HG00438.hp1 HG00597.hp2 HG00741.hp2 others(24): Show |
5_prime_UTR_variant | MODIFIER | c.-226dupG | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 1/24 | 2669 | chr19 | 50719587 | ||||||
chr19:50719624 | G | A | 1 | a0001c0003t0111 | 1 | HG04228.hp1 | 5_prime_UTR_variant | MODIFIER | c.-262C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 1/24 | 2705 | chr19 | 50719624 | ||||||
chr19:50719684 | G | T | 1 | a0001c0002t0034 | 1 | HG03490.hp1 | 5_prime_UTR_variant | MODIFIER | c.-322C>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 1/24 | 2765 | chr19 | 50719684 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr19:50662778 | G | A | 1 | a0002c0001t0002g0183 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.5769-96C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50662778 | |||||||
chr19:50662808 | G | A | 14 | a0001c0003t0004g0057 a0001c0003t0004g0099 a0001c0003t0004g0100 others(11): Show |
14 | HG00642.hp2 HG01074.hp2 HG01081.hp1 others(11): Show |
intron_variant | MODIFIER | c.5769-126C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50662808 | |||||||
chr19:50662811 | G | GGA | 52 | a0001c0002t0007g0269 a0001c0002t0010g0200 a0001c0002t0011g0087 others(49): Show |
52 | HG00642.hp2 HG01069.hp2 HG01071.hp2 others(49): Show |
intron_variant | MODIFIER | c.5769-131_5769-130d others(4): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50662811 | |||||||
chr19:50662819 | G | C | 1 | a0002c0001t0002g0272 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.5769-137C>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50662819 | |||||||
chr19:50662855 | G | C | 2 | a0003c0005t0003g0151 a0003c0005t0043g0022 |
2 | HG00597.hp2 HG02040.hp1 |
intron_variant | MODIFIER | c.5769-173C>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50662855 | |||||||
chr19:50662968 | G | A | 102 | a0001c0002t0002g0221 a0001c0002t0002g0294 a0001c0002t0003g0058 others(99): Show |
103 | HG00323.hp2 HG00597.hp2 HG00621.hp1 others(100): Show |
intron_variant | MODIFIER | c.5769-286C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50662968 | |||||||
chr19:50663194 | G | A | 151 | a0001c0002t0002g0221 a0001c0002t0002g0294 a0001c0002t0003g0058 others(148): Show |
152 | HG00323.hp2 HG00438.hp2 HG00597.hp2 others(149): Show |
intron_variant | MODIFIER | c.5769-512C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50663194 | |||||||
chr19:50663280 | C | CAG | 19 | a0001c0002t0003g0144 a0001c0002t0084g0231 a0001c0003t0003g0253 others(16): Show |
19 | HG00323.hp2 HG00597.hp2 HG00738.hp1 others(16): Show |
intron_variant | MODIFIER | c.5769-599_5769-598i others(4): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50663280 | |||||||
chr19:50663282 | C | CAG | 136 | a0001c0002t0002g0221 a0001c0002t0002g0294 a0001c0002t0003g0058 others(133): Show |
137 | HG00438.hp2 HG00621.hp1 HG00621.hp2 others(134): Show |
intron_variant | MODIFIER | c.5769-602_5769-601d others(4): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50663282 | |||||||
chr19:50663282 | C | G | 19 | a0001c0002t0003g0144 a0001c0002t0084g0231 a0001c0003t0003g0253 others(16): Show |
19 | HG00323.hp2 HG00597.hp2 HG00738.hp1 others(16): Show |
intron_variant | MODIFIER | c.5769-600G>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50663282 | |||||||
chr19:50663358 | C | T | 10 | a0001c0003t0007g0067 a0001c0003t0010g0173 a0001c0003t0010g0284 others(7): Show |
10 | HG01109.hp2 HG01884.hp2 HG02109.hp2 others(7): Show |
intron_variant | MODIFIER | c.5769-676G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50663358 | |||||||
chr19:50663434 | C | G | 145 | a0001c0002t0002g0221 a0001c0002t0002g0294 a0001c0002t0003g0058 others(142): Show |
146 | HG00323.hp2 HG00438.hp2 HG00597.hp2 others(143): Show |
intron_variant | MODIFIER | c.5769-752G>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50663434 | |||||||
chr19:50663743 | GA | G | 10 | a0001c0002t0002g0221 a0001c0003t0004g0225 a0001c0003t0004g0228 others(7): Show |
10 | HG01255.hp1 HG01256.hp1 HG02145.hp1 others(7): Show |
intron_variant | MODIFIER | c.5769-1062delT | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50663743 | |||||||
chr19:50663743 | GAA | G | 10 | a0001c0003t0007g0067 a0001c0003t0010g0173 a0001c0003t0010g0284 others(7): Show |
10 | HG01109.hp2 HG01884.hp2 HG02109.hp2 others(7): Show |
intron_variant | MODIFIER | c.5769-1063_5769-106 others(6): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50663743 | |||||||
chr19:50663752 | A | G | 1 | a0017c0037t0005g0121 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.5769-1070T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50663752 | |||||||
chr19:50663762 | G | GA | 6 | a0001c0003t0022g0077 a0001c0003t0022g0248 a0001c0003t0074g0073 others(3): Show |
6 | HG01243.hp2 HG01891.hp1 HG02258.hp1 others(3): Show |
intron_variant | MODIFIER | c.5769-1081dupT | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50663762 | |||||||
chr19:50663762 | GAA | G | 85 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(82): Show |
86 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(83): Show |
intron_variant | MODIFIER | c.5769-1082_5769-108 others(6): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50663762 | |||||||
chr19:50663768 | A | G | 1 | a0001c0002t0018g0128 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.5769-1086T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50663768 | |||||||
chr19:50663869 | C | T | 1 | a0002c0001t0055g0033 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.5769-1187G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50663869 | |||||||
chr19:50663912 | T | TTTTTC | 9 | a0001c0003t0010g0173 a0001c0003t0010g0284 a0001c0003t0023g0080 others(6): Show |
9 | HG01109.hp2 HG02109.hp2 HG02145.hp1 others(6): Show |
intron_variant | MODIFIER | c.5769-1235_5769-123 others(9): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50663912 | |||||||
chr19:50663924 | T | TTTC | 5 | a0001c0003t0007g0067 a0001c0009t0004g0247 a0001c0009t0007g0244 others(2): Show |
5 | HG01884.hp2 HG02572.hp2 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.5769-1243_5769-124 others(7): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50663924 | |||||||
chr19:50663924 | T | TTTCTTTC | 7 | a0001c0003t0010g0078 a0001c0003t0012g0070 a0001c0003t0023g0239 others(4): Show |
7 | HG01981.hp2 HG02818.hp1 HG02965.hp2 others(4): Show |
intron_variant | MODIFIER | c.5769-1243_5769-124 others(11): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50663924 | |||||||
chr19:50663926 | C | T | 5 | a0001c0003t0007g0067 a0001c0009t0004g0247 a0001c0009t0007g0244 others(2): Show |
5 | HG01884.hp2 HG02572.hp2 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.5769-1244G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50663926 | |||||||
chr19:50663928 | C | T | 1 | a0001c0003t0083g0086 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.5769-1246G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50663928 | |||||||
chr19:50663930 | C | T | 1 | a0001c0038t0094g0287 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.5769-1248G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50663930 | |||||||
chr19:50663938 | C | CT | 4 | a0001c0003t0010g0173 a0001c0003t0025g0009 a0001c0003t0065g0046 others(1): Show |
4 | HG01109.hp2 HG02109.hp2 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.5769-1257dupA | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50663938 | |||||||
chr19:50663938 | C | T | 5 | a0001c0003t0007g0067 a0001c0009t0004g0247 a0001c0009t0007g0244 others(2): Show |
5 | HG01884.hp2 HG02572.hp2 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.5769-1256G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50663938 | |||||||
chr19:50663939 | TC | T | 3 | a0001c0003t0023g0080 a0001c0004t0081g0084 a0001c0038t0094g0287 |
3 | HG03471.hp2 HG03486.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.5769-1258delG | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50663939 | |||||||
chr19:50663940 | C | CTCT | 8 | a0001c0004t0015g0068 a0001c0004t0016g0083 a0001c0004t0017g0250 others(5): Show |
8 | HG02486.hp1 HG02559.hp2 HG02622.hp2 others(5): Show |
intron_variant | MODIFIER | c.5769-1259_5769-125 others(7): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50663940 | |||||||
chr19:50663940 | C | CTTT | 75 | a0001c0002t0002g0221 a0001c0002t0002g0294 a0001c0002t0003g0058 others(72): Show |
75 | HG00438.hp2 HG00621.hp1 HG00639.hp2 others(72): Show |
intron_variant | MODIFIER | c.5769-1261_5769-125 others(7): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50663940 | |||||||
chr19:50663940 | C | CTTTT | 104 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(101): Show |
105 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(102): Show |
intron_variant | MODIFIER | c.5769-1262_5769-125 others(8): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50663940 | |||||||
chr19:50663940 | C | CTTTTT | 11 | a0001c0002t0001g0251 a0001c0002t0006g0236 a0001c0002t0052g0026 others(8): Show |
11 | HG00621.hp2 HG01192.hp2 HG01257.hp1 others(8): Show |
intron_variant | MODIFIER | c.5769-1263_5769-125 others(9): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50663940 | |||||||
chr19:50663940 | C | T | 14 | a0001c0003t0007g0067 a0001c0003t0010g0173 a0001c0003t0010g0284 others(11): Show |
14 | HG01109.hp2 HG01884.hp2 HG02109.hp2 others(11): Show |
intron_variant | MODIFIER | c.5769-1258G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50663940 | |||||||
chr19:50664122 | CT | C | 172 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(169): Show |
173 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(170): Show |
intron_variant | MODIFIER | c.5769-1441delA | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50664122 | |||||||
chr19:50664123 | T | TTTC | 17 | a0001c0003t0007g0067 a0001c0003t0010g0173 a0001c0003t0010g0284 others(14): Show |
17 | HG01109.hp2 HG01884.hp2 HG02109.hp2 others(14): Show |
intron_variant | MODIFIER | c.5769-1442_5769-144 others(7): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50664123 | |||||||
chr19:50664124 | T | C | 1 | a0001c0040t0005g0207 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.5769-1442A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50664124 | |||||||
chr19:50664124 | T | TTC | 6 | a0001c0003t0010g0078 a0001c0003t0023g0239 a0001c0003t0023g0240 others(3): Show |
6 | HG01981.hp2 HG02965.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.5769-1443_5769-144 others(6): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50664124 | |||||||
chr19:50664229 | A | G | 2 | a0001c0003t0007g0089 a0001c0004t0011g0050 |
2 | HG02451.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.5769-1547T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50664229 | |||||||
chr19:50664286 | C | T | 2 | a0001c0003t0023g0080 a0001c0004t0081g0084 |
2 | HG03471.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.5769-1604G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50664286 | |||||||
chr19:50664332 | A | G | 8 | a0001c0003t0010g0078 a0001c0003t0023g0239 a0001c0003t0023g0240 others(5): Show |
8 | HG01981.hp2 HG02145.hp1 HG02280.hp1 others(5): Show |
intron_variant | MODIFIER | c.5769-1650T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50664332 | |||||||
chr19:50664407 | G | A | 1 | a0001c0003t0102g0303 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.5769-1725C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50664407 | |||||||
chr19:50664426 | T | C | 1 | a0001c0016t0073g0071 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.5769-1744A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50664426 | |||||||
chr19:50664469 | T | G | 4 | a0001c0003t0012g0053 a0001c0007t0012g0079 a0003c0006t0012g0090 others(1): Show |
4 | HG02257.hp2 HG03130.hp1 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.5768+1723A>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50664469 | |||||||
chr19:50664573 | G | A | 31 | a0001c0002t0010g0200 a0001c0003t0004g0057 a0001c0003t0004g0099 others(28): Show |
31 | HG00642.hp2 HG01069.hp2 HG01071.hp2 others(28): Show |
intron_variant | MODIFIER | c.5768+1619C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50664573 | |||||||
chr19:50664594 | C | T | 1 | a0001c0002t0084g0231 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.5768+1598G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50664594 | |||||||
chr19:50664632 | A | C | 1 | a0001c0018t0078g0124 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.5768+1560T>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50664632 | |||||||
chr19:50664810 | A | G | 1 | a0001c0002t0015g0139 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.5768+1382T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50664810 | |||||||
chr19:50664884 | A | G | 5 | a0001c0002t0009g0227 a0001c0002t0012g0135 a0001c0002t0037g0007 others(2): Show |
5 | HG01993.hp2 HG02738.hp1 HG03704.hp1 others(2): Show |
intron_variant | MODIFIER | c.5768+1308T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50664884 | |||||||
chr19:50664938 | T | A | 20 | a0001c0003t0007g0067 a0001c0003t0010g0078 a0001c0003t0010g0173 others(17): Show |
20 | HG01109.hp2 HG01884.hp2 HG01981.hp2 others(17): Show |
intron_variant | MODIFIER | c.5768+1254A>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50664938 | |||||||
chr19:50664950 | G | A | 63 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(60): Show |
64 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(61): Show |
intron_variant | MODIFIER | c.5768+1242C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50664950 | |||||||
chr19:50664950 | G | T | 14 | a0001c0003t0007g0067 a0001c0003t0010g0173 a0001c0003t0010g0284 others(11): Show |
14 | HG01109.hp2 HG01884.hp2 HG02109.hp2 others(11): Show |
intron_variant | MODIFIER | c.5768+1242C>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50664950 | |||||||
chr19:50665069 | T | G | 25 | a0001c0002t0018g0128 a0001c0003t0004g0081 a0001c0003t0007g0089 others(22): Show |
25 | HG00621.hp2 HG00741.hp1 HG00741.hp2 others(22): Show |
intron_variant | MODIFIER | c.5768+1123A>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50665069 | |||||||
chr19:50665159 | T | C | 22 | a0001c0002t0001g0191 a0001c0003t0007g0067 a0001c0003t0010g0078 others(19): Show |
22 | HG01109.hp2 HG01175.hp1 HG01884.hp2 others(19): Show |
intron_variant | MODIFIER | c.5768+1033A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50665159 | |||||||
chr19:50665241 | C | T | 1 | a0002c0001t0003g0164 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.5768+951G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50665241 | |||||||
chr19:50665303 | T | C | 24 | a0001c0002t0007g0269 a0001c0002t0011g0087 a0001c0003t0007g0067 others(21): Show |
24 | HG01109.hp2 HG01884.hp2 HG01981.hp2 others(21): Show |
intron_variant | MODIFIER | c.5768+889A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50665303 | |||||||
chr19:50665391 | C | T | 21 | a0001c0003t0004g0057 a0001c0003t0004g0099 a0001c0003t0004g0100 others(18): Show |
21 | HG01074.hp2 HG01081.hp1 HG01243.hp1 others(18): Show |
intron_variant | MODIFIER | c.5768+801G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50665391 | |||||||
chr19:50665435 | C | T | 2 | a0001c0003t0023g0080 a0001c0004t0081g0084 |
2 | HG03471.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.5768+757G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50665435 | |||||||
chr19:50665450 | G | A | 1 | a0001c0019t0020g0235 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.5768+742C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50665450 | |||||||
chr19:50665499 | A | G | 26 | a0001c0002t0007g0269 a0001c0002t0011g0087 a0001c0003t0007g0067 others(23): Show |
26 | HG01074.hp2 HG01109.hp2 HG01243.hp2 others(23): Show |
intron_variant | MODIFIER | c.5768+693T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50665499 | |||||||
chr19:50665566 | CA | C | 43 | a0001c0002t0003g0058 a0001c0002t0003g0062 a0001c0002t0003g0144 others(40): Show |
43 | HG00323.hp2 HG00438.hp2 HG00621.hp1 others(40): Show |
intron_variant | MODIFIER | c.5768+625delT | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50665566 | |||||||
chr19:50665566 | CAA | C | 80 | a0001c0002t0010g0200 a0001c0002t0018g0128 a0001c0002t0033g0302 others(77): Show |
80 | HG00597.hp2 HG00621.hp2 HG00642.hp2 others(77): Show |
intron_variant | MODIFIER | c.5768+624_5768+625d others(4): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50665566 | |||||||
chr19:50665566 | CAAA | C | 105 | a0001c0002t0001g0119 a0001c0002t0001g0140 a0001c0002t0001g0150 others(102): Show |
106 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(103): Show |
intron_variant | MODIFIER | c.5768+623_5768+625d others(5): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50665566 | |||||||
chr19:50665566 | CAAAA | C | 54 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(51): Show |
55 | HG00140.hp2 HG00323.hp1 HG00639.hp1 others(52): Show |
intron_variant | MODIFIER | c.5768+622_5768+625d others(6): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50665566 | |||||||
chr19:50665590 | A | G | 4 | a0001c0003t0022g0077 a0001c0003t0022g0248 a0001c0016t0064g0042 others(1): Show |
4 | HG01261.hp1 HG01884.hp1 HG02572.hp1 others(1): Show |
intron_variant | MODIFIER | c.5768+602T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50665590 | |||||||
chr19:50665650 | T | C | 3 | a0001c0003t0067g0045 a0001c0003t0076g0289 a0001c0003t0102g0303 |
3 | HG02145.hp1 HG02258.hp1 HG02280.hp1 |
intron_variant | MODIFIER | c.5768+542A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50665650 | |||||||
chr19:50665737 | T | TAA | 7 | a0001c0003t0036g0005 a0001c0004t0001g0104 a0001c0004t0014g0163 others(4): Show |
7 | HG00741.hp1 HG00741.hp2 HG01070.hp1 others(4): Show |
intron_variant | MODIFIER | c.5768+453_5768+454d others(4): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50665737 | |||||||
chr19:50665737 | T | TAAA | 59 | a0001c0002t0002g0259 a0001c0002t0010g0200 a0001c0002t0012g0135 others(56): Show |
59 | HG00597.hp2 HG00621.hp2 HG01069.hp2 others(56): Show |
intron_variant | MODIFIER | c.5768+452_5768+454d others(5): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50665737 | |||||||
chr19:50665737 | T | TAAAA | 9 | a0001c0002t0001g0251 a0001c0002t0003g0144 a0001c0002t0034g0003 others(6): Show |
9 | HG01257.hp1 HG02486.hp1 HG02738.hp1 others(6): Show |
intron_variant | MODIFIER | c.5768+451_5768+454d others(6): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50665737 | |||||||
chr19:50665737 | T | TAAAAA | 77 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(74): Show |
78 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(75): Show |
intron_variant | MODIFIER | c.5768+450_5768+454d others(7): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50665737 | |||||||
chr19:50665737 | T | TAAAAAAA others(7): Show |
2 | a0002c0001t0002g0159 a0002c0001t0005g0214 |
2 | NA18971.hp2 NA18978.hp2 |
intron_variant | MODIFIER | c.5768+441_5768+454d others(16): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50665737 | |||||||
chr19:50665737 | T | TAAAAAAA others(8): Show |
11 | a0001c0002t0003g0058 a0001c0002t0003g0062 a0001c0002t0003g0277 others(8): Show |
11 | HG00733.hp1 HG01074.hp1 HG01099.hp2 others(8): Show |
intron_variant | MODIFIER | c.5768+440_5768+454d others(17): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50665737 | |||||||
chr19:50665737 | T | TAAAAAAA others(9): Show |
10 | a0001c0002t0003g0166 a0001c0002t0003g0199 a0001c0002t0009g0098 others(7): Show |
10 | HG00438.hp2 HG00621.hp1 HG00639.hp2 others(7): Show |
intron_variant | MODIFIER | c.5768+454_5768+455i others(18): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50665737 | |||||||
chr19:50665737 | T | TAAAAAAA others(10): Show |
1 | a0001c0038t0094g0287 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.5768+454_5768+455i others(19): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50665737 | |||||||
chr19:50665737 | T | TAAAAAAA others(12): Show |
3 | a0001c0003t0067g0045 a0001c0003t0076g0289 a0001c0003t0102g0303 |
3 | HG02145.hp1 HG02258.hp1 HG02280.hp1 |
intron_variant | MODIFIER | c.5768+454_5768+455i others(21): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50665737 | |||||||
chr19:50665737 | T | TAAAAAAA others(17): Show |
1 | a0001c0003t0004g0254 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.5768+454_5768+455i others(26): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50665737 | |||||||
chr19:50665737 | T | TAAAAAAA others(18): Show |
9 | a0001c0003t0003g0292 a0001c0003t0004g0225 a0001c0003t0004g0228 others(6): Show |
9 | HG00323.hp2 HG01255.hp1 HG01256.hp1 others(6): Show |
intron_variant | MODIFIER | c.5768+454_5768+455i others(27): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50665737 | |||||||
chr19:50665737 | T | TAAAAAAA others(19): Show |
11 | a0001c0003t0004g0099 a0001c0003t0004g0100 a0001c0003t0004g0193 others(8): Show |
11 | HG00642.hp2 HG01081.hp1 HG01243.hp1 others(8): Show |
intron_variant | MODIFIER | c.5768+454_5768+455i others(28): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50665737 | |||||||
chr19:50665737 | T | TAAAAAAA others(20): Show |
7 | a0001c0002t0001g0119 a0001c0002t0001g0204 a0001c0003t0004g0057 others(4): Show |
7 | HG00423.hp1 HG01952.hp1 HG03130.hp2 others(4): Show |
intron_variant | MODIFIER | c.5768+454_5768+455i others(29): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50665737 | |||||||
chr19:50665737 | T | TAAAAAAA others(21): Show |
2 | a0001c0003t0082g0174 a0001c0004t0010g0060 |
2 | HG01891.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.5768+454_5768+455i others(30): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50665737 | |||||||
chr19:50665737 | T | TAAAAAAA others(23): Show |
4 | a0001c0002t0002g0294 a0001c0002t0005g0115 a0001c0002t0016g0112 others(1): Show |
4 | HG02027.hp1 NA18960.hp2 NA18998.hp1 others(1): Show |
intron_variant | MODIFIER | c.5768+454_5768+455i others(32): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50665737 | |||||||
chr19:50665737 | T | TAAAAAAA others(24): Show |
1 | a0001c0015t0027g0029 | 1 | NA19090.hp2 | intron_variant | MODIFIER | c.5768+454_5768+455i others(33): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50665737 | |||||||
chr19:50665737 | T | TAAAAAAA others(27): Show |
1 | a0001c0040t0005g0207 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.5768+454_5768+455i others(36): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50665737 | |||||||
chr19:50665737 | T | TAAAAAAA others(28): Show |
1 | a0001c0002t0002g0221 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.5768+454_5768+455i others(37): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50665737 | |||||||
chr19:50665737 | T | TAAAAAAA others(29): Show |
1 | a0001c0002t0054g0032 | 1 | NA19009.hp2 | intron_variant | MODIFIER | c.5768+454_5768+455i others(38): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50665737 | |||||||
chr19:50665737 | T | TAAAAAAA others(30): Show |
1 | a0010c0036t0002g0295 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.5768+454_5768+455i others(39): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50665737 | |||||||
chr19:50665763 | T | G | 1 | a0002c0001t0062g0041 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.5768+429A>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50665763 | |||||||
chr19:50665808 | T | C | 35 | a0001c0002t0010g0200 a0001c0003t0003g0292 a0001c0003t0004g0057 others(32): Show |
35 | HG00323.hp1 HG00323.hp2 HG00642.hp2 others(32): Show |
intron_variant | MODIFIER | c.5768+384A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50665808 | |||||||
chr19:50665900 | G | GCGCATGC others(15): Show |
46 | a0001c0002t0018g0128 a0001c0003t0011g0052 a0001c0003t0012g0070 others(43): Show |
46 | HG00597.hp2 HG00621.hp2 HG00741.hp1 others(43): Show |
intron_variant | MODIFIER | c.5768+291_5768+292i others(24): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50665900 | |||||||
chr19:50665900 | G | GCGCATTC others(15): Show |
11 | a0001c0003t0004g0081 a0001c0003t0007g0089 a0001c0003t0025g0009 others(8): Show |
11 | HG02109.hp2 HG02451.hp2 HG02647.hp2 others(8): Show |
intron_variant | MODIFIER | c.5768+291_5768+292i others(24): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50665900 | |||||||
chr19:50665902 | A | T | 57 | a0001c0002t0018g0128 a0001c0003t0004g0081 a0001c0003t0007g0089 others(54): Show |
57 | HG00597.hp2 HG00621.hp2 HG00741.hp1 others(54): Show |
intron_variant | MODIFIER | c.5768+290T>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50665902 | |||||||
chr19:50665925 | C | T | 122 | a0001c0002t0002g0221 a0001c0002t0016g0112 a0001c0002t0018g0128 others(119): Show |
123 | HG00140.hp2 HG00597.hp2 HG00621.hp2 others(120): Show |
intron_variant | MODIFIER | c.5768+267G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50665925 | |||||||
chr19:50665942 | C | T | 8 | a0001c0002t0002g0221 a0001c0002t0005g0257 a0001c0002t0016g0112 others(5): Show |
8 | HG00544.hp1 HG02027.hp1 HG02071.hp2 others(5): Show |
intron_variant | MODIFIER | c.5768+250G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50665942 | |||||||
chr19:50665943 | A | G | 17 | a0001c0002t0002g0221 a0001c0002t0005g0257 a0001c0002t0016g0112 others(14): Show |
17 | HG00544.hp1 HG01109.hp2 HG01243.hp2 others(14): Show |
intron_variant | MODIFIER | c.5768+249T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50665943 | |||||||
chr19:50665951 | T | C | 8 | a0001c0002t0002g0221 a0001c0002t0005g0257 a0001c0002t0016g0112 others(5): Show |
8 | HG00544.hp1 HG01192.hp1 HG02027.hp1 others(5): Show |
intron_variant | MODIFIER | c.5768+241A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50665951 | |||||||
chr19:50666024 | G | GA | 8 | a0001c0002t0050g0028 a0001c0003t0011g0052 a0001c0003t0067g0045 others(5): Show |
8 | HG00738.hp2 HG01952.hp2 HG02145.hp1 others(5): Show |
intron_variant | MODIFIER | c.5768+167dupT | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50666024 | |||||||
chr19:50666032 | A | G | 1 | a0003c0005t0003g0198 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.5768+160T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50666032 | |||||||
chr19:50666040 | AAAAG | A | 21 | a0001c0003t0003g0292 a0001c0003t0004g0099 a0001c0003t0004g0100 others(18): Show |
21 | HG00323.hp1 HG00323.hp2 HG01081.hp1 others(18): Show |
intron_variant | MODIFIER | c.5768+148_5768+151d others(6): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | 50666040 | |||||||
chr19:50669359 | C | T | 2 | a0001c0002t0001g0197 a0001c0002t0084g0231 |
2 | HG00738.hp1 HG01081.hp2 |
intron_variant | MODIFIER | c.2675-74G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 22/23 | chr19 | 50669359 | |||||||
chr19:50669529 | A | G | 74 | a0001c0003t0003g0253 a0001c0003t0003g0292 a0001c0003t0004g0057 others(71): Show |
74 | HG00323.hp1 HG00323.hp2 HG00597.hp2 others(71): Show |
intron_variant | MODIFIER | c.2675-244T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 22/23 | chr19 | 50669529 | |||||||
chr19:50669544 | C | T | 1 | a0002c0001t0002g0276 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.2675-259G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 22/23 | chr19 | 50669544 | |||||||
chr19:50669680 | G | A | 4 | a0001c0004t0004g0188 a0001c0004t0028g0234 a0001c0004t0028g0274 others(1): Show |
4 | HG01358.hp2 HG02818.hp2 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.2675-395C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 22/23 | chr19 | 50669680 | |||||||
chr19:50669772 | T | TA | 74 | a0001c0003t0001g0061 a0001c0003t0003g0253 a0001c0003t0003g0292 others(71): Show |
74 | HG00323.hp1 HG00323.hp2 HG00597.hp2 others(71): Show |
intron_variant | MODIFIER | c.2675-488dupT | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 22/23 | chr19 | 50669772 | |||||||
chr19:50669915 | A | T | 1 | a0002c0001t0002g0271 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.2675-630T>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 22/23 | chr19 | 50669915 | |||||||
chr19:50669961 | A | C | 72 | a0001c0003t0003g0253 a0001c0003t0003g0292 a0001c0003t0004g0057 others(69): Show |
72 | HG00323.hp1 HG00323.hp2 HG00597.hp2 others(69): Show |
intron_variant | MODIFIER | c.2675-676T>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 22/23 | chr19 | 50669961 | |||||||
chr19:50670166 | C | T | 73 | a0001c0003t0003g0253 a0001c0003t0003g0292 a0001c0003t0004g0057 others(70): Show |
73 | HG00323.hp1 HG00323.hp2 HG00597.hp2 others(70): Show |
intron_variant | MODIFIER | c.2675-881G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 22/23 | chr19 | 50670166 | |||||||
chr19:50670258 | C | T | 3 | a0002c0001t0001g0195 a0002c0001t0056g0036 a0008c0033t0002g0185 |
3 | HG01952.hp2 HG02004.hp1 HG02004.hp2 |
intron_variant | MODIFIER | c.2675-973G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 22/23 | chr19 | 50670258 | |||||||
chr19:50670275 | C | T | 2 | a0001c0002t0005g0115 a0001c0015t0027g0029 |
2 | NA18998.hp1 NA19090.hp2 |
intron_variant | MODIFIER | c.2675-990G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 22/23 | chr19 | 50670275 | |||||||
chr19:50670296 | T | A | 74 | a0001c0003t0003g0253 a0001c0003t0003g0292 a0001c0003t0004g0057 others(71): Show |
74 | HG00323.hp1 HG00323.hp2 HG00597.hp2 others(71): Show |
intron_variant | MODIFIER | c.2675-1011A>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 22/23 | chr19 | 50670296 | |||||||
chr19:50670314 | T | C | 1 | a0002c0001t0009g0192 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.2675-1029A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 22/23 | chr19 | 50670314 | |||||||
chr19:50670388 | T | C | 1 | a0001c0004t0001g0104 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.2675-1103A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 22/23 | chr19 | 50670388 | |||||||
chr19:50670517 | C | A | 1 | a0002c0001t0007g0224 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.2675-1232G>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 22/23 | chr19 | 50670517 | |||||||
chr19:50670628 | A | G | 8 | a0001c0004t0015g0068 a0001c0004t0016g0066 a0001c0004t0016g0083 others(5): Show |
8 | HG02486.hp1 HG02559.hp2 HG02622.hp2 others(5): Show |
intron_variant | MODIFIER | c.2675-1343T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 22/23 | chr19 | 50670628 | |||||||
chr19:50670649 | C | T | 1 | a0002c0001t0019g0223 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.2675-1364G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 22/23 | chr19 | 50670649 | |||||||
chr19:50670651 | TG | T | 79 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(76): Show |
80 | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(77): Show |
intron_variant | MODIFIER | c.2674+1366delC | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 22/23 | chr19 | 50670651 | |||||||
chr19:50670659 | A | G | 82 | a0001c0003t0001g0061 a0001c0003t0003g0253 a0001c0003t0003g0292 others(79): Show |
82 | HG00323.hp1 HG00323.hp2 HG00597.hp2 others(79): Show |
intron_variant | MODIFIER | c.2674+1359T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 22/23 | chr19 | 50670659 | |||||||
chr19:50670824 | C | T | 1 | a0002c0001t0002g0296 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.2674+1194G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 22/23 | chr19 | 50670824 | |||||||
chr19:50670825 | G | A | 3 | a0001c0003t0001g0061 a0001c0003t0022g0077 a0001c0003t0022g0248 |
3 | HG02572.hp1 HG02723.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.2674+1193C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 22/23 | chr19 | 50670825 | |||||||
chr19:50670856 | C | T | 1 | a0001c0018t0078g0124 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.2674+1162G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 22/23 | chr19 | 50670856 | |||||||
chr19:50671022 | G | C | 10 | a0001c0003t0003g0253 a0001c0003t0004g0076 a0001c0003t0008g0233 others(7): Show |
10 | HG01891.hp2 HG02055.hp1 HG02145.hp1 others(7): Show |
intron_variant | MODIFIER | c.2674+996C>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 22/23 | chr19 | 50671022 | |||||||
chr19:50671029 | T | G | 1 | a0001c0004t0008g0051 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.2674+989A>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 22/23 | chr19 | 50671029 | |||||||
chr19:50671043 | C | T | 1 | a0001c0003t0004g0193 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.2674+975G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 22/23 | chr19 | 50671043 | |||||||
chr19:50671180 | C | CT | 169 | a0001c0002t0001g0093 a0001c0002t0001g0119 a0001c0002t0001g0120 others(166): Show |
170 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(167): Show |
intron_variant | MODIFIER | c.2674+837dupA | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 22/23 | chr19 | 50671180 | |||||||
chr19:50671180 | C | CTT | 29 | a0001c0002t0001g0095 a0001c0002t0001g0182 a0001c0002t0003g0144 others(26): Show |
29 | HG00323.hp2 HG00741.hp1 HG01106.hp2 others(26): Show |
intron_variant | MODIFIER | c.2674+836_2674+837d others(4): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 22/23 | chr19 | 50671180 | |||||||
chr19:50671223 | G | A | 1 | a0002c0001t0106g0311 | 1 | NA19000.hp2 | intron_variant | MODIFIER | c.2674+795C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 22/23 | chr19 | 50671223 | |||||||
chr19:50671285 | G | C | 74 | a0001c0003t0003g0253 a0001c0003t0003g0292 a0001c0003t0004g0057 others(71): Show |
74 | HG00323.hp1 HG00323.hp2 HG00597.hp2 others(71): Show |
intron_variant | MODIFIER | c.2674+733C>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 22/23 | chr19 | 50671285 | |||||||
chr19:50671478 | C | T | 5 | a0001c0003t0010g0173 a0001c0003t0010g0284 a0001c0003t0025g0009 others(2): Show |
5 | HG01109.hp2 HG02109.hp2 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.2674+540G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 22/23 | chr19 | 50671478 | |||||||
chr19:50671487 | C | CT | 73 | a0001c0003t0003g0253 a0001c0003t0003g0292 a0001c0003t0004g0057 others(70): Show |
73 | HG00323.hp1 HG00323.hp2 HG00597.hp2 others(70): Show |
intron_variant | MODIFIER | c.2674+530dupA | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 22/23 | chr19 | 50671487 | |||||||
chr19:50671526 | A | C | 2 | a0002c0001t0002g0175 a0002c0001t0002g0176 |
2 | HG01256.hp2 HG01258.hp2 |
intron_variant | MODIFIER | c.2674+492T>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 22/23 | chr19 | 50671526 | |||||||
chr19:50671638 | C | T | 2 | a0001c0016t0064g0042 a0001c0016t0073g0071 |
2 | HG01261.hp1 HG01884.hp1 |
intron_variant | MODIFIER | c.2674+380G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 22/23 | chr19 | 50671638 | |||||||
chr19:50672185 | T | C | 1 | a0001c0002t0018g0128 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.2578-71A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50672185 | |||||||
chr19:50672225 | C | T | 5 | a0001c0003t0010g0173 a0001c0003t0010g0284 a0001c0003t0025g0009 others(2): Show |
5 | HG01109.hp2 HG02109.hp2 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.2578-111G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50672225 | |||||||
chr19:50672284 | G | A | 1 | a0002c0001t0106g0311 | 1 | NA19000.hp2 | intron_variant | MODIFIER | c.2578-170C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50672284 | |||||||
chr19:50672413 | T | C | 1 | a0001c0002t0002g0294 | 1 | NA18960.hp2 | intron_variant | MODIFIER | c.2578-299A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50672413 | |||||||
chr19:50672503 | C | T | 2 | a0002c0001t0032g0156 a0002c0001t0048g0023 |
2 | HG00544.hp2 HG02056.hp2 |
intron_variant | MODIFIER | c.2578-389G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50672503 | |||||||
chr19:50672537 | C | T | 9 | a0003c0006t0001g0246 a0003c0006t0005g0280 a0003c0006t0006g0283 others(6): Show |
9 | HG01496.hp1 HG02055.hp2 HG02451.hp1 others(6): Show |
intron_variant | MODIFIER | c.2578-423G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50672537 | |||||||
chr19:50672555 | C | CA | 36 | a0001c0002t0001g0204 a0001c0002t0002g0109 a0001c0002t0002g0259 others(33): Show |
36 | HG00408.hp2 HG00438.hp1 HG00597.hp1 others(33): Show |
intron_variant | MODIFIER | c.2578-442dupT | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50672555 | |||||||
chr19:50672555 | C | CAAA | 12 | a0001c0003t0017g0088 a0001c0003t0075g0125 a0001c0003t0102g0303 others(9): Show |
12 | HG01070.hp1 HG02258.hp1 HG02622.hp1 others(9): Show |
intron_variant | MODIFIER | c.2578-444_2578-442d others(5): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50672555 | |||||||
chr19:50672555 | C | CAAAA | 25 | a0001c0003t0025g0013 a0001c0003t0044g0011 a0001c0003t0067g0045 others(22): Show |
25 | HG00597.hp2 HG00741.hp1 HG01099.hp1 others(22): Show |
intron_variant | MODIFIER | c.2578-445_2578-442d others(6): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50672555 | |||||||
chr19:50672555 | C | CAAAAA | 14 | a0001c0003t0004g0081 a0001c0003t0007g0089 a0001c0003t0008g0233 others(11): Show |
14 | HG01192.hp2 HG02559.hp2 HG02647.hp2 others(11): Show |
intron_variant | MODIFIER | c.2578-446_2578-442d others(7): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50672555 | |||||||
chr19:50672555 | C | CAAAAAAA | 11 | a0001c0003t0003g0253 a0001c0003t0004g0254 a0001c0003t0007g0067 others(8): Show |
11 | HG01261.hp1 HG01884.hp1 HG01884.hp2 others(8): Show |
intron_variant | MODIFIER | c.2578-448_2578-442d others(9): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50672555 | |||||||
chr19:50672555 | CA | C | 12 | a0001c0002t0001g0097 a0001c0002t0009g0227 a0001c0002t0084g0231 others(9): Show |
12 | HG00323.hp1 HG00323.hp2 HG00738.hp1 others(9): Show |
intron_variant | MODIFIER | c.2578-442delT | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50672555 | |||||||
chr19:50672555 | CAAAAAAA others(4): Show |
C | 2 | a0001c0004t0028g0274 a0001c0004t0077g0249 |
2 | HG02818.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.2578-452_2578-442d others(13): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50672555 | |||||||
chr19:50672572 | A | G | 1 | a0001c0004t0008g0051 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.2578-458T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50672572 | |||||||
chr19:50672622 | C | T | 1 | a0002c0001t0002g0213 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.2578-508G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50672622 | |||||||
chr19:50672798 | G | A | 78 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(75): Show |
79 | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(76): Show |
intron_variant | MODIFIER | c.2578-684C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50672798 | |||||||
chr19:50673065 | G | A | 30 | a0001c0003t0003g0253 a0001c0003t0004g0076 a0001c0003t0004g0081 others(27): Show |
30 | HG01891.hp2 HG02055.hp1 HG02145.hp1 others(27): Show |
intron_variant | MODIFIER | c.2578-951C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50673065 | |||||||
chr19:50673111 | G | T | 5 | a0001c0003t0004g0193 a0001c0004t0008g0064 a0001c0004t0010g0060 others(2): Show |
5 | HG01891.hp1 HG02451.hp2 HG02486.hp2 others(2): Show |
intron_variant | MODIFIER | c.2578-997C>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50673111 | |||||||
chr19:50673329 | G | A | 3 | a0001c0003t0001g0061 a0001c0003t0022g0077 a0001c0003t0022g0248 |
3 | HG02572.hp1 HG02723.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.2578-1215C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50673329 | |||||||
chr19:50673406 | C | G | 1 | a0001c0019t0020g0235 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.2578-1292G>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50673406 | |||||||
chr19:50673407 | C | T | 1 | a0001c0004t0081g0084 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.2578-1293G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50673407 | |||||||
chr19:50673437 | C | T | 1 | a0001c0003t0102g0303 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.2578-1323G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50673437 | |||||||
chr19:50673564 | T | C | 1 | a0001c0002t0014g0202 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.2578-1450A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50673564 | |||||||
chr19:50673592 | A | G | 12 | a0001c0003t0007g0067 a0001c0003t0010g0078 a0001c0003t0023g0080 others(9): Show |
12 | HG01243.hp2 HG01261.hp1 HG01884.hp1 others(9): Show |
intron_variant | MODIFIER | c.2578-1478T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50673592 | |||||||
chr19:50673653 | A | G | 12 | a0001c0003t0007g0067 a0001c0003t0010g0078 a0001c0003t0023g0080 others(9): Show |
12 | HG01243.hp2 HG01261.hp1 HG01884.hp1 others(9): Show |
intron_variant | MODIFIER | c.2578-1539T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50673653 | |||||||
chr19:50673717 | A | C | 45 | a0001c0003t0001g0061 a0001c0003t0003g0253 a0001c0003t0004g0076 others(42): Show |
45 | HG01243.hp2 HG01358.hp2 HG01891.hp1 others(42): Show |
intron_variant | MODIFIER | c.2578-1603T>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50673717 | |||||||
chr19:50673732 | A | C | 5 | a0001c0003t0004g0193 a0001c0004t0008g0064 a0001c0004t0010g0060 others(2): Show |
5 | HG01891.hp1 HG02451.hp2 HG02486.hp2 others(2): Show |
intron_variant | MODIFIER | c.2578-1618T>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50673732 | |||||||
chr19:50673745 | A | C | 1 | a0002c0001t0021g0020 | 1 | NA18997.hp1 | intron_variant | MODIFIER | c.2578-1631T>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50673745 | |||||||
chr19:50673777 | T | C | 5 | a0001c0003t0004g0193 a0001c0004t0008g0064 a0001c0004t0010g0060 others(2): Show |
5 | HG01891.hp1 HG02451.hp2 HG02486.hp2 others(2): Show |
intron_variant | MODIFIER | c.2578-1663A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50673777 | |||||||
chr19:50673814 | C | CT | 103 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(100): Show |
104 | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(101): Show |
intron_variant | MODIFIER | c.2578-1701dupA | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50673814 | |||||||
chr19:50673814 | C | CTT | 14 | a0001c0002t0018g0128 a0001c0003t0004g0193 a0001c0004t0008g0064 others(11): Show |
14 | HG01496.hp1 HG01891.hp1 HG02055.hp2 others(11): Show |
intron_variant | MODIFIER | c.2578-1702_2578-170 others(6): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50673814 | |||||||
chr19:50673814 | CT | C | 29 | a0001c0002t0001g0119 a0001c0002t0001g0204 a0001c0002t0002g0221 others(26): Show |
29 | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(26): Show |
intron_variant | MODIFIER | c.2578-1701delA | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50673814 | |||||||
chr19:50673816 | T | A | 1 | a0003c0005t0032g0170 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.2578-1702A>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50673816 | |||||||
chr19:50673852 | G | C | 1 | a0002c0001t0002g0183 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.2578-1738C>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50673852 | |||||||
chr19:50673904 | A | G | 1 | a0002c0001t0002g0293 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.2578-1790T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50673904 | |||||||
chr19:50673909 | A | G | 1 | a0011c0023t0012g0082 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.2578-1795T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50673909 | |||||||
chr19:50673943 | A | C | 156 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(153): Show |
157 | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(154): Show |
intron_variant | MODIFIER | c.2578-1829T>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50673943 | |||||||
chr19:50674001 | C | A | 1 | a0003c0005t0032g0170 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.2578-1887G>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50674001 | |||||||
chr19:50674002 | A | G | 1 | a0003c0005t0032g0170 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.2578-1888T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50674002 | |||||||
chr19:50674055 | A | G | 1 | a0011c0023t0012g0082 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.2578-1941T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50674055 | |||||||
chr19:50674095 | A | AT | 127 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(124): Show |
128 | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(125): Show |
intron_variant | MODIFIER | c.2578-1982dupA | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50674095 | |||||||
chr19:50674119 | G | A | 1 | a0001c0003t0080g0143 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.2578-2005C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50674119 | |||||||
chr19:50674263 | G | C | 27 | a0001c0002t0001g0119 a0001c0002t0001g0204 a0001c0002t0002g0221 others(24): Show |
27 | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(24): Show |
intron_variant | MODIFIER | c.2578-2149C>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50674263 | |||||||
chr19:50674294 | G | A | 83 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(80): Show |
84 | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(81): Show |
intron_variant | MODIFIER | c.2578-2180C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50674294 | |||||||
chr19:50674435 | A | G | 2 | a0002c0001t0002g0175 a0002c0001t0002g0176 |
2 | HG01256.hp2 HG01258.hp2 |
intron_variant | MODIFIER | c.2578-2321T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50674435 | |||||||
chr19:50674442 | C | A | 1 | a0003c0005t0032g0170 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.2578-2328G>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50674442 | |||||||
chr19:50674661 | C | T | 1 | a0001c0002t0001g0150 | 1 | HG01168.hp1 | intron_variant | MODIFIER | c.2578-2547G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50674661 | |||||||
chr19:50674662 | G | A | 2 | a0001c0002t0005g0115 a0001c0015t0027g0029 |
2 | NA18998.hp1 NA19090.hp2 |
intron_variant | MODIFIER | c.2578-2548C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50674662 | |||||||
chr19:50674701 | C | T | 1 | a0001c0007t0012g0079 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.2578-2587G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50674701 | |||||||
chr19:50674774 | A | T | 26 | a0001c0003t0003g0253 a0001c0003t0004g0081 a0001c0003t0004g0193 others(23): Show |
26 | HG02055.hp1 HG02145.hp1 HG02572.hp1 others(23): Show |
intron_variant | MODIFIER | c.2578-2660T>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50674774 | |||||||
chr19:50674804 | G | A | 49 | a0001c0002t0001g0119 a0001c0002t0001g0204 a0001c0002t0002g0221 others(46): Show |
49 | HG00423.hp1 HG00597.hp2 HG01070.hp1 others(46): Show |
intron_variant | MODIFIER | c.2578-2690C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50674804 | |||||||
chr19:50674814 | C | G | 2 | a0002c0001t0002g0175 a0002c0001t0002g0176 |
2 | HG01256.hp2 HG01258.hp2 |
intron_variant | MODIFIER | c.2578-2700G>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50674814 | |||||||
chr19:50674859 | C | T | 1 | a0002c0001t0019g0223 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.2578-2745G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50674859 | |||||||
chr19:50674872 | G | A | 1 | a0002c0001t0002g0296 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.2578-2758C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50674872 | |||||||
chr19:50675061 | C | CA | 10 | a0001c0003t0004g0254 a0001c0003t0007g0089 a0001c0003t0010g0169 others(7): Show |
10 | HG00741.hp1 HG01167.hp2 HG02027.hp2 others(7): Show |
intron_variant | MODIFIER | c.2578-2948dupT | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50675061 | |||||||
chr19:50675061 | CA | C | 52 | a0001c0002t0001g0119 a0001c0002t0001g0140 a0001c0002t0001g0150 others(49): Show |
52 | HG00423.hp1 HG00438.hp2 HG01109.hp2 others(49): Show |
intron_variant | MODIFIER | c.2578-2948delT | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50675061 | |||||||
chr19:50675061 | CAA | C | 106 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(103): Show |
107 | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(104): Show |
intron_variant | MODIFIER | c.2578-2949_2578-294 others(6): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50675061 | |||||||
chr19:50675061 | CAAA | C | 15 | a0001c0002t0001g0251 a0001c0002t0002g0259 a0001c0002t0009g0098 others(12): Show |
15 | HG00639.hp2 HG01257.hp1 HG01884.hp1 others(12): Show |
intron_variant | MODIFIER | c.2578-2950_2578-294 others(7): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50675061 | |||||||
chr19:50675276 | T | C | 1 | a0002c0001t0092g0217 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.2578-3162A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50675276 | |||||||
chr19:50675320 | G | C | 1 | a0002c0001t0021g0020 | 1 | NA18997.hp1 | intron_variant | MODIFIER | c.2578-3206C>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50675320 | |||||||
chr19:50675430 | G | C | 174 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(171): Show |
175 | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(172): Show |
intron_variant | MODIFIER | c.2578-3316C>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50675430 | |||||||
chr19:50675584 | G | A | 158 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(155): Show |
159 | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(156): Show |
intron_variant | MODIFIER | c.2578-3470C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50675584 | |||||||
chr19:50675586 | C | A | 131 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(128): Show |
132 | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(129): Show |
intron_variant | MODIFIER | c.2578-3472G>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50675586 | |||||||
chr19:50675631 | T | C | 1 | a0001c0004t0026g0019 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.2578-3517A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50675631 | |||||||
chr19:50675671 | G | A | 28 | a0001c0003t0007g0067 a0001c0003t0010g0078 a0001c0003t0023g0080 others(25): Show |
28 | HG00597.hp2 HG01070.hp1 HG01358.hp2 others(25): Show |
intron_variant | MODIFIER | c.2578-3557C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50675671 | |||||||
chr19:50675712 | T | C | 162 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(159): Show |
163 | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(160): Show |
intron_variant | MODIFIER | c.2578-3598A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50675712 | |||||||
chr19:50675762 | G | A | 1 | a0001c0003t0004g0193 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.2578-3648C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50675762 | |||||||
chr19:50675800 | G | A | 1 | a0001c0002t0015g0139 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.2578-3686C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50675800 | |||||||
chr19:50675986 | A | T | 14 | a0001c0002t0001g0119 a0001c0002t0001g0204 a0001c0002t0002g0221 others(11): Show |
14 | HG00423.hp1 NA18960.hp2 NA18964.hp1 others(11): Show |
intron_variant | MODIFIER | c.2578-3872T>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50675986 | |||||||
chr19:50676067 | G | A | 6 | a0001c0003t0010g0173 a0001c0003t0010g0284 a0001c0003t0025g0009 others(3): Show |
6 | HG01109.hp2 HG02109.hp1 HG02109.hp2 others(3): Show |
intron_variant | MODIFIER | c.2578-3953C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50676067 | |||||||
chr19:50676139 | A | AT | 7 | a0001c0003t0010g0173 a0001c0003t0025g0009 a0001c0003t0065g0046 others(4): Show |
7 | HG00597.hp1 HG01109.hp2 HG02109.hp1 others(4): Show |
intron_variant | MODIFIER | c.2578-4026dupA | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50676139 | |||||||
chr19:50676139 | AT | A | 84 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(81): Show |
85 | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(82): Show |
intron_variant | MODIFIER | c.2578-4026delA | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50676139 | |||||||
chr19:50676140 | T | A | 1 | a0002c0001t0013g0172 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.2578-4026A>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50676140 | |||||||
chr19:50676297 | T | C | 1 | a0001c0004t0096g0297 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.2578-4183A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50676297 | |||||||
chr19:50676455 | A | G | 174 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(171): Show |
175 | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(172): Show |
intron_variant | MODIFIER | c.2578-4341T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50676455 | |||||||
chr19:50676548 | G | A | 27 | a0001c0003t0003g0253 a0001c0003t0004g0081 a0001c0003t0004g0193 others(24): Show |
27 | HG02055.hp1 HG02145.hp1 HG02572.hp1 others(24): Show |
intron_variant | MODIFIER | c.2578-4434C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50676548 | |||||||
chr19:50676640 | T | C | 163 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(160): Show |
164 | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(161): Show |
intron_variant | MODIFIER | c.2578-4526A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50676640 | |||||||
chr19:50676662 | T | C | 2 | a0001c0009t0004g0247 a0002c0001t0066g0044 |
2 | HG02809.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.2578-4548A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50676662 | |||||||
chr19:50676669 | C | A | 1 | a0003c0006t0101g0301 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.2578-4555G>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50676669 | |||||||
chr19:50676775 | C | T | 1 | a0003c0006t0014g0216 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.2578-4661G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50676775 | |||||||
chr19:50676776 | C | T | 2 | a0001c0003t0025g0013 a0001c0003t0067g0045 |
2 | HG02145.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.2578-4662G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50676776 | |||||||
chr19:50676801 | T | C | 173 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(170): Show |
174 | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(171): Show |
intron_variant | MODIFIER | c.2578-4687A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50676801 | |||||||
chr19:50677022 | C | T | 1 | a0001c0003t0001g0061 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.2578-4908G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50677022 | |||||||
chr19:50677046 | T | C | 1 | a0001c0002t0091g0113 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.2578-4932A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50677046 | |||||||
chr19:50677105 | G | T | 1 | a0001c0002t0021g0021 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.2578-4991C>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50677105 | |||||||
chr19:50677127 | C | CT | 112 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(109): Show |
113 | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(110): Show |
intron_variant | MODIFIER | c.2578-5014dupA | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50677127 | |||||||
chr19:50677127 | C | CTT | 7 | a0001c0002t0009g0196 a0001c0002t0016g0112 a0001c0002t0031g0229 others(4): Show |
7 | HG00738.hp2 HG01517.hp2 HG02027.hp1 others(4): Show |
intron_variant | MODIFIER | c.2578-5015_2578-501 others(6): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50677127 | |||||||
chr19:50677127 | CT | C | 24 | a0001c0002t0001g0119 a0001c0002t0001g0204 a0001c0002t0002g0221 others(21): Show |
24 | HG00423.hp1 HG01243.hp1 HG01255.hp1 others(21): Show |
intron_variant | MODIFIER | c.2578-5014delA | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50677127 | |||||||
chr19:50677128 | T | C | 4 | a0001c0003t0012g0070 a0001c0003t0023g0239 a0001c0003t0023g0240 others(1): Show |
4 | HG02818.hp1 HG02970.hp2 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.2578-5014A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50677128 | |||||||
chr19:50677129 | T | C | 1 | a0001c0003t0102g0303 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.2578-5015A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50677129 | |||||||
chr19:50677156 | C | T | 3 | a0001c0003t0001g0061 a0001c0003t0004g0076 a0001c0018t0003g0127 |
3 | HG01891.hp2 NA19240.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.2578-5042G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50677156 | |||||||
chr19:50677188 | C | T | 4 | a0001c0003t0012g0070 a0001c0003t0023g0239 a0001c0003t0023g0240 others(1): Show |
4 | HG02818.hp1 HG02970.hp2 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.2578-5074G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50677188 | |||||||
chr19:50677259 | C | T | 4 | a0001c0003t0017g0088 a0001c0003t0075g0125 a0001c0013t0024g0123 others(1): Show |
4 | HG02622.hp1 HG02886.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.2578-5145G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50677259 | |||||||
chr19:50677273 | T | G | 175 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(172): Show |
176 | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(173): Show |
intron_variant | MODIFIER | c.2578-5159A>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50677273 | |||||||
chr19:50677289 | A | G | 1 | a0001c0032t0018g0177 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.2578-5175T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50677289 | |||||||
chr19:50677664 | T | C | 17 | a0001c0002t0001g0119 a0001c0002t0001g0204 a0001c0002t0002g0221 others(14): Show |
17 | HG00423.hp1 HG01891.hp2 NA18960.hp2 others(14): Show |
intron_variant | MODIFIER | c.2578-5550A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50677664 | |||||||
chr19:50677731 | C | T | 81 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(78): Show |
82 | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(79): Show |
intron_variant | MODIFIER | c.2578-5617G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50677731 | |||||||
chr19:50678006 | G | A | 1 | a0002c0008t0068g0048 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.2578-5892C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678006 | |||||||
chr19:50678048 | T | G | 129 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(126): Show |
130 | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(127): Show |
intron_variant | MODIFIER | c.2578-5934A>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678048 | |||||||
chr19:50678064 | G | A | 81 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(78): Show |
82 | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(79): Show |
intron_variant | MODIFIER | c.2578-5950C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678064 | |||||||
chr19:50678159 | T | G | 175 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(172): Show |
176 | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(173): Show |
intron_variant | MODIFIER | c.2578-6045A>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678159 | |||||||
chr19:50678208 | G | A | 1 | a0001c0003t0102g0303 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.2578-6094C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678208 | |||||||
chr19:50678303 | C | T | 2 | a0001c0003t0022g0077 a0001c0003t0022g0248 |
2 | HG02572.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.2578-6189G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678303 | |||||||
chr19:50678332 | G | A | 112 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(109): Show |
113 | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(110): Show |
intron_variant | MODIFIER | c.2578-6218C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678332 | |||||||
chr19:50678412 | C | T | 27 | a0001c0003t0003g0253 a0001c0003t0004g0081 a0001c0003t0004g0193 others(24): Show |
27 | HG02055.hp1 HG02145.hp1 HG02572.hp1 others(24): Show |
intron_variant | MODIFIER | c.2578-6298G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678412 | |||||||
chr19:50678508 | T | G | 1 | a0002c0008t0003g0208 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.2578-6394A>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678508 | |||||||
chr19:50678533 | G | A | 85 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(82): Show |
86 | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(83): Show |
intron_variant | MODIFIER | c.2578-6419C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678533 | |||||||
chr19:50678591 | G | T | 65 | a0001c0003t0003g0253 a0001c0003t0004g0081 a0001c0003t0004g0193 others(62): Show |
65 | HG00597.hp2 HG01070.hp1 HG01358.hp2 others(62): Show |
intron_variant | MODIFIER | c.2578-6477C>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678591 | |||||||
chr19:50678737 | C | CGGAGGGG others(69): Show |
1 | a0002c0001t0001g0195 | 1 | HG02004.hp2 | intron_variant | MODIFIER | c.2578-6699_2578-662 others(80): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678737 | |||||||
chr19:50678742 | G | GGGTCAGG others(12): Show |
1 | a0002c0008t0013g0209 | 1 | NA19090.hp1 | intron_variant | MODIFIER | c.2578-6647_2578-662 others(23): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678742 | |||||||
chr19:50678752 | G | T | 1 | a0001c0002t0009g0181 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.2578-6638C>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678752 | |||||||
chr19:50678760 | A | G | 1 | a0001c0003t0003g0253 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.2578-6646T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678760 | |||||||
chr19:50678761 | A | AGGTCAGG others(12): Show |
1 | a0002c0001t0027g0030 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.2578-6666_2578-664 others(23): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678761 | |||||||
chr19:50678761 | A | G | 1 | a0001c0003t0003g0253 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.2578-6647T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678761 | |||||||
chr19:50678788 | G | A | 1 | a0001c0003t0003g0253 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.2578-6674C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678788 | |||||||
chr19:50678788 | G | GTGATGGG others(30): Show |
3 | a0001c0003t0074g0073 a0001c0004t0077g0249 a0001c0016t0073g0071 |
3 | HG01243.hp2 HG01884.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.2578-6675_2578-667 others(41): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678788 | |||||||
chr19:50678788 | G | GTGATGGG others(432): Show |
1 | a0003c0006t0012g0090 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.2578-6675_2578-667 others(443): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678788 | |||||||
chr19:50678791 | A | ATGGGGAG others(11): Show |
5 | a0001c0003t0010g0173 a0001c0003t0010g0284 a0001c0003t0025g0009 others(2): Show |
5 | HG01109.hp2 HG02109.hp2 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.2578-6678_2578-667 others(22): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678791 | |||||||
chr19:50678791 | A | ATGGGGAG others(87): Show |
3 | a0001c0003t0001g0061 a0001c0003t0004g0076 a0001c0018t0003g0127 |
3 | HG01891.hp2 NA19240.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.2578-6678_2578-667 others(98): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678791 | |||||||
chr19:50678791 | A | ATGGGGAG others(991): Show |
1 | a0013c0034t0007g0252 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.2578-6678_2578-667 others(1002): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678791 | |||||||
chr19:50678791 | A | ATGGGGAG others(67): Show |
2 | a0001c0003t0102g0303 a0001c0004t0028g0274 |
2 | HG02258.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.2578-6678_2578-667 others(78): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678791 | |||||||
chr19:50678798 | G | A | 81 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(78): Show |
82 | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(79): Show |
intron_variant | MODIFIER | c.2578-6684C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678798 | |||||||
chr19:50678799 | G | A | 81 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(78): Show |
82 | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(79): Show |
intron_variant | MODIFIER | c.2578-6685C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678799 | |||||||
chr19:50678805 | A | G | 164 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(161): Show |
165 | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(162): Show |
intron_variant | MODIFIER | c.2578-6691T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678805 | |||||||
chr19:50678807 | A | G | 164 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(161): Show |
165 | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(162): Show |
intron_variant | MODIFIER | c.2578-6693T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678807 | |||||||
chr19:50678816 | A | C | 7 | a0002c0001t0002g0175 a0002c0001t0002g0176 a0002c0001t0004g0136 others(4): Show |
7 | HG01256.hp2 HG01257.hp2 HG01258.hp1 others(4): Show |
intron_variant | MODIFIER | c.2578-6702T>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678816 | |||||||
chr19:50678825 | G | A | 1 | a0002c0001t0006g0142 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.2578-6711C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678825 | |||||||
chr19:50678826 | G | A | 1 | a0001c0038t0094g0287 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.2578-6712C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678826 | |||||||
chr19:50678828 | G | GA | 6 | a0001c0002t0005g0165 a0001c0002t0005g0258 a0001c0002t0033g0302 others(3): Show |
6 | HG01261.hp1 HG02055.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.2578-6715_2578-671 others(5): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678828 | |||||||
chr19:50678828 | G | GATGGGGA others(145): Show |
4 | a0001c0003t0012g0070 a0001c0003t0023g0239 a0001c0003t0023g0240 others(1): Show |
4 | HG02818.hp1 HG02970.hp2 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.2578-6715_2578-671 others(156): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678828 | |||||||
chr19:50678835 | G | A | 3 | a0001c0002t0005g0165 a0001c0002t0005g0258 a0001c0002t0033g0302 |
3 | NA18951.hp2 NA19007.hp2 NA19060.hp1 |
intron_variant | MODIFIER | c.2578-6721C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678835 | |||||||
chr19:50678836 | G | A | 3 | a0001c0002t0005g0165 a0001c0002t0005g0258 a0001c0002t0033g0302 |
3 | NA18951.hp2 NA19007.hp2 NA19060.hp1 |
intron_variant | MODIFIER | c.2578-6722C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678836 | |||||||
chr19:50678842 | G | A | 99 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(96): Show |
100 | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(97): Show |
intron_variant | MODIFIER | c.2578-6728C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678842 | |||||||
chr19:50678842 | G | GGATGATG others(49): Show |
28 | a0001c0003t0007g0067 a0001c0003t0010g0078 a0001c0003t0023g0080 others(25): Show |
28 | HG00597.hp2 HG01070.hp1 HG01358.hp2 others(25): Show |
intron_variant | MODIFIER | c.2578-6729_2578-672 others(60): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678842 | |||||||
chr19:50678844 | A | G | 18 | a0001c0002t0005g0165 a0001c0002t0005g0258 a0001c0002t0033g0302 others(15): Show |
18 | HG01109.hp2 HG01261.hp1 HG02055.hp2 others(15): Show |
intron_variant | MODIFIER | c.2578-6730T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678844 | |||||||
chr19:50678847 | A | ATGGGGAG others(30): Show |
5 | a0001c0003t0004g0254 a0001c0003t0007g0075 a0001c0003t0007g0089 others(2): Show |
5 | HG02145.hp2 HG02630.hp1 HG03540.hp2 others(2): Show |
intron_variant | MODIFIER | c.2578-6734_2578-673 others(41): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678847 | |||||||
chr19:50678865 | G | GA | 77 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(74): Show |
78 | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(75): Show |
intron_variant | MODIFIER | c.2578-6752_2578-675 others(5): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678865 | |||||||
chr19:50678865 | G | GATGGGGA others(1352): Show |
1 | a0001c0007t0012g0079 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.2578-6752_2578-675 others(1363): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678865 | |||||||
chr19:50678865 | G | GATGGGGA others(124): Show |
2 | a0001c0003t0082g0174 a0014c0030t0072g0074 |
2 | HG03195.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.2578-6752_2578-675 others(135): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678865 | |||||||
chr19:50678865 | G | GATGGGGA others(1356): Show |
1 | a0001c0003t0022g0077 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.2578-6752_2578-675 others(1367): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678865 | |||||||
chr19:50678865 | G | GATGGGGA others(543): Show |
1 | a0001c0003t0022g0248 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.2578-6752_2578-675 others(554): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678865 | |||||||
chr19:50678865 | G | GATGGGGA others(1374): Show |
1 | a0001c0007t0042g0016 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.2578-6752_2578-675 others(1385): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678865 | |||||||
chr19:50678865 | G | GATGGGGA others(1374): Show |
1 | a0001c0007t0071g0049 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.2578-6752_2578-675 others(1385): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678865 | |||||||
chr19:50678865 | G | GATGGGGA others(1373): Show |
1 | a0001c0007t0008g0237 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.2578-6752_2578-675 others(1384): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678865 | |||||||
chr19:50678865 | G | GATGGGGA others(1411): Show |
1 | a0001c0004t0007g0065 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.2578-6752_2578-675 others(1422): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678865 | |||||||
chr19:50678865 | G | GATGGGGA others(674): Show |
1 | a0001c0019t0020g0235 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.2578-6752_2578-675 others(685): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678865 | |||||||
chr19:50678865 | G | GATGGGGA others(544): Show |
1 | a0001c0003t0012g0053 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.2578-6752_2578-675 others(555): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678865 | |||||||
chr19:50678865 | G | GATGGGGA others(544): Show |
6 | a0001c0003t0011g0052 a0001c0003t0025g0013 a0001c0003t0067g0045 others(3): Show |
6 | HG02145.hp1 HG02896.hp2 HG02970.hp1 others(3): Show |
intron_variant | MODIFIER | c.2578-6752_2578-675 others(555): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678865 | |||||||
chr19:50678865 | G | GATGGGGA others(563): Show |
6 | a0001c0003t0004g0081 a0001c0003t0017g0088 a0001c0003t0075g0125 others(3): Show |
6 | HG02055.hp1 HG02622.hp1 HG02647.hp2 others(3): Show |
intron_variant | MODIFIER | c.2578-6752_2578-675 others(574): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678865 | |||||||
chr19:50678865 | G | GATGGGGA others(582): Show |
1 | a0001c0003t0008g0233 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.2578-6752_2578-675 others(593): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678865 | |||||||
chr19:50678865 | G | GATGGGGA others(582): Show |
1 | a0001c0003t0004g0193 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.2578-6752_2578-675 others(593): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678865 | |||||||
chr19:50678865 | G | GATGGGGA others(507): Show |
1 | a0001c0003t0003g0253 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.2578-6752_2578-675 others(518): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678865 | |||||||
chr19:50678865 | G | GATGGGGA others(516): Show |
1 | a0001c0039t0006g0108 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.2578-6752_2578-675 others(527): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678865 | |||||||
chr19:50678865 | G | GATGGGGA others(269): Show |
1 | a0001c0002t0041g0017 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.2578-6752_2578-675 others(280): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678865 | |||||||
chr19:50678865 | G | GATGGGGA others(879): Show |
1 | a0001c0004t0008g0051 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.2578-6752_2578-675 others(890): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678865 | |||||||
chr19:50678865 | G | GTGGGAGG others(359): Show |
1 | a0002c0008t0003g0208 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.2578-6752_2578-675 others(370): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678865 | |||||||
chr19:50678865 | G | GTGGGGAG others(341): Show |
1 | a0002c0008t0013g0209 | 1 | NA19090.hp1 | intron_variant | MODIFIER | c.2578-6752_2578-675 others(352): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678865 | |||||||
chr19:50678879 | G | A | 5 | a0001c0002t0005g0165 a0001c0002t0005g0258 a0001c0002t0033g0302 others(2): Show |
5 | HG02055.hp2 HG03486.hp1 NA18951.hp2 others(2): Show |
intron_variant | MODIFIER | c.2578-6765C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678879 | |||||||
chr19:50678881 | G | A | 11 | a0001c0002t0005g0165 a0001c0002t0005g0258 a0001c0002t0033g0302 others(8): Show |
11 | HG01261.hp1 HG02055.hp2 HG02145.hp2 others(8): Show |
intron_variant | MODIFIER | c.2578-6767C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678881 | |||||||
chr19:50678883 | GA | G | 87 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(84): Show |
88 | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(85): Show |
intron_variant | MODIFIER | c.2578-6770delT | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678883 | |||||||
chr19:50678884 | A | ATGGGGAG others(11): Show |
1 | a0017c0037t0005g0121 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.2578-6788_2578-677 others(22): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678884 | |||||||
chr19:50678902 | G | GA | 34 | a0001c0002t0001g0119 a0001c0002t0005g0165 a0001c0002t0005g0258 others(31): Show |
34 | HG00423.hp1 HG01074.hp2 HG01109.hp1 others(31): Show |
intron_variant | MODIFIER | c.2578-6789_2578-678 others(5): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678902 | |||||||
chr19:50678902 | G | GATGGGAA others(100): Show |
1 | a0001c0002t0016g0112 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.2578-6789_2578-678 others(111): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678902 | |||||||
chr19:50678902 | G | GATGGGAA others(157): Show |
1 | a0001c0002t0100g0300 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.2578-6789_2578-678 others(168): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678902 | |||||||
chr19:50678902 | G | GATGGGAA others(195): Show |
1 | a0001c0002t0003g0062 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.2578-6789_2578-678 others(206): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678902 | |||||||
chr19:50678902 | G | GATGGGAA others(80): Show |
1 | a0001c0002t0001g0095 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.2578-6789_2578-678 others(91): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678902 | |||||||
chr19:50678902 | G | GATGGGAA others(99): Show |
4 | a0001c0002t0002g0259 a0001c0002t0003g0058 a0001c0002t0009g0098 others(1): Show |
4 | HG00639.hp2 HG02129.hp1 HG02523.hp1 others(1): Show |
intron_variant | MODIFIER | c.2578-6789_2578-678 others(110): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678902 | |||||||
chr19:50678902 | G | GATGGGAA others(289): Show |
1 | a0001c0002t0084g0231 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.2578-6789_2578-678 others(300): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678902 | |||||||
chr19:50678902 | G | GATGGGAA others(118): Show |
52 | a0001c0002t0001g0093 a0001c0002t0001g0097 a0001c0002t0001g0178 others(49): Show |
53 | HG00140.hp2 HG00408.hp2 HG00438.hp2 others(50): Show |
intron_variant | MODIFIER | c.2578-6789_2578-678 others(129): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678902 | |||||||
chr19:50678902 | G | GATGGGAA others(175): Show |
4 | a0001c0002t0001g0140 a0001c0002t0009g0180 a0001c0002t0009g0196 others(1): Show |
4 | HG01981.hp1 HG02074.hp2 HG03654.hp1 others(1): Show |
intron_variant | MODIFIER | c.2578-6789_2578-678 others(186): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678902 | |||||||
chr19:50678902 | G | GATGGGAA others(194): Show |
3 | a0001c0002t0001g0191 a0001c0002t0001g0211 a0001c0021t0006g0103 |
3 | HG00140.hp1 HG01175.hp1 NA20805.hp2 |
intron_variant | MODIFIER | c.2578-6789_2578-678 others(205): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678902 | |||||||
chr19:50678902 | G | GATGGGAA others(118): Show |
1 | a0001c0002t0001g0120 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.2578-6789_2578-678 others(129): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678902 | |||||||
chr19:50678902 | G | GATGGGGA others(262): Show |
1 | a0001c0002t0001g0204 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.2578-6789_2578-678 others(273): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678902 | |||||||
chr19:50678902 | G | GATGGGGA others(165): Show |
1 | a0001c0002t0003g0144 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.2578-6789_2578-678 others(176): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678902 | |||||||
chr19:50678902 | G | GATGGGGA others(564): Show |
1 | a0002c0001t0038g0006 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.2578-6789_2578-678 others(575): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678902 | |||||||
chr19:50678902 | G | GATGGGGA others(602): Show |
5 | a0001c0002t0002g0294 a0001c0002t0005g0115 a0001c0002t0019g0273 others(2): Show |
5 | NA18960.hp2 NA18974.hp2 NA18998.hp1 others(2): Show |
intron_variant | MODIFIER | c.2578-6789_2578-678 others(613): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678902 | |||||||
chr19:50678902 | G | GATGGGGA others(564): Show |
3 | a0001c0002t0002g0221 a0001c0002t0054g0032 a0001c0040t0005g0207 |
3 | NA18986.hp1 NA19009.hp2 NA19089.hp1 |
intron_variant | MODIFIER | c.2578-6789_2578-678 others(575): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678902 | |||||||
chr19:50678902 | G | GTGGGGAG others(341): Show |
1 | a0002c0001t0027g0030 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.2578-6789_2578-678 others(352): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678902 | |||||||
chr19:50678906 | G | A | 60 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(57): Show |
61 | HG00140.hp2 HG00408.hp2 HG00438.hp2 others(58): Show |
intron_variant | MODIFIER | c.2578-6792C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678906 | |||||||
chr19:50678907 | G | A | 7 | a0001c0002t0009g0227 a0001c0002t0012g0135 a0001c0002t0037g0007 others(4): Show |
7 | HG01074.hp2 HG01358.hp1 HG01993.hp2 others(4): Show |
intron_variant | MODIFIER | c.2578-6793C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678907 | |||||||
chr19:50678916 | G | A | 4 | a0001c0002t0001g0119 a0001c0002t0015g0118 a0001c0002t0058g0035 others(1): Show |
4 | HG00423.hp1 NA18964.hp1 NA19005.hp2 others(1): Show |
intron_variant | MODIFIER | c.2578-6802C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678916 | |||||||
chr19:50678918 | G | A | 4 | a0001c0002t0001g0119 a0001c0002t0015g0118 a0001c0002t0058g0035 others(1): Show |
4 | HG00423.hp1 NA18964.hp1 NA19005.hp2 others(1): Show |
intron_variant | MODIFIER | c.2578-6804C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678918 | |||||||
chr19:50678919 | T | TTACAAGC others(23): Show |
1 | a0001c0002t0012g0135 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.2578-6806_2578-680 others(34): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678919 | |||||||
chr19:50678919 | T | TTACAAGC others(61): Show |
1 | a0001c0002t0009g0227 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.2578-6806_2578-680 others(72): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678919 | |||||||
chr19:50678919 | T | TTACAAGC others(80): Show |
5 | a0001c0002t0037g0007 a0001c0002t0051g0027 a0001c0002t0105g0304 others(2): Show |
5 | HG01074.hp2 HG01358.hp1 HG02738.hp1 others(2): Show |
intron_variant | MODIFIER | c.2578-6806_2578-680 others(91): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678919 | |||||||
chr19:50678920 | G | A | 7 | a0001c0002t0009g0227 a0001c0002t0012g0135 a0001c0002t0037g0007 others(4): Show |
7 | HG01074.hp2 HG01358.hp1 HG01993.hp2 others(4): Show |
intron_variant | MODIFIER | c.2578-6806C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678920 | |||||||
chr19:50678920 | G | GA | 108 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(105): Show |
109 | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(106): Show |
intron_variant | MODIFIER | c.2578-6807_2578-680 others(5): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678920 | |||||||
chr19:50678920 | G | GATGGGGA others(307): Show |
1 | a0001c0003t0102g0303 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.2578-6807_2578-680 others(318): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678920 | |||||||
chr19:50678920 | G | GATGGGGA others(1369): Show |
1 | a0001c0003t0065g0046 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.2578-6807_2578-680 others(1380): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678920 | |||||||
chr19:50678920 | G | GATGGGGA others(563): Show |
1 | a0001c0003t0099g0308 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.2578-6807_2578-680 others(574): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678920 | |||||||
chr19:50678920 | G | GATGGGGA others(1787): Show |
1 | a0001c0003t0010g0284 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.2578-6807_2578-680 others(1798): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678920 | |||||||
chr19:50678920 | G | GATGGGGA others(1368): Show |
2 | a0001c0003t0010g0173 a0001c0003t0025g0009 |
2 | HG02109.hp2 HG02723.hp1 |
intron_variant | MODIFIER | c.2578-6807_2578-680 others(1379): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678920 | |||||||
chr19:50678920 | G | GATGGGGA others(1256): Show |
1 | a0001c0016t0064g0042 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.2578-6807_2578-680 others(1267): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678920 | |||||||
chr19:50678920 | G | GTGGGGAG others(383): Show |
1 | a0001c0018t0078g0124 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.2578-6807_2578-680 others(394): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678920 | |||||||
chr19:50678920 | G | GTGGGGAG others(402): Show |
1 | a0001c0003t0012g0070 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.2578-6807_2578-680 others(413): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678920 | |||||||
chr19:50678920 | G | GTGGGGAG others(383): Show |
2 | a0001c0003t0023g0239 a0001c0003t0023g0240 |
2 | HG03453.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.2578-6807_2578-680 others(394): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678920 | |||||||
chr19:50678920 | G | GTGGGGAG others(155): Show |
3 | a0001c0002t0005g0165 a0001c0002t0005g0258 a0001c0002t0033g0302 |
3 | NA18951.hp2 NA19007.hp2 NA19060.hp1 |
intron_variant | MODIFIER | c.2578-6807_2578-680 others(166): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678920 | |||||||
chr19:50678920 | G | GTGGGGAG others(268): Show |
1 | a0001c0004t0028g0274 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.2578-6807_2578-680 others(279): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678920 | |||||||
chr19:50678924 | G | A | 7 | a0001c0002t0009g0227 a0001c0002t0016g0112 a0001c0002t0037g0007 others(4): Show |
7 | HG01074.hp2 HG01358.hp1 HG02027.hp1 others(4): Show |
intron_variant | MODIFIER | c.2578-6810C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678924 | |||||||
chr19:50678926 | A | G | 1 | a0001c0002t0012g0135 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.2578-6812T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678926 | |||||||
chr19:50678929 | G | T | 1 | a0001c0002t0012g0135 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.2578-6815C>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678929 | |||||||
chr19:50678934 | A | G | 65 | a0001c0002t0001g0119 a0001c0002t0001g0140 a0001c0002t0001g0191 others(62): Show |
65 | HG00140.hp1 HG00423.hp1 HG01074.hp2 others(62): Show |
intron_variant | MODIFIER | c.2578-6820T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678934 | |||||||
chr19:50678935 | G | T | 7 | a0001c0002t0009g0227 a0001c0002t0012g0135 a0001c0002t0037g0007 others(4): Show |
7 | HG01074.hp2 HG01358.hp1 HG01993.hp2 others(4): Show |
intron_variant | MODIFIER | c.2578-6821C>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678935 | |||||||
chr19:50678936 | A | ATGATGGG others(378): Show |
1 | a0002c0001t0001g0195 | 1 | HG02004.hp2 | intron_variant | MODIFIER | c.2578-6823_2578-682 others(389): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678936 | |||||||
chr19:50678936 | A | ATGATGGG others(341): Show |
1 | a0001c0004t0026g0014 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.2578-6823_2578-682 others(352): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678936 | |||||||
chr19:50678936 | A | ATGATGGG others(974): Show |
1 | a0002c0001t0019g0223 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.2578-6823_2578-682 others(985): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678936 | |||||||
chr19:50678936 | A | G | 62 | a0001c0002t0001g0119 a0001c0002t0001g0140 a0001c0002t0001g0191 others(59): Show |
62 | HG00140.hp1 HG00423.hp1 HG01074.hp2 others(59): Show |
intron_variant | MODIFIER | c.2578-6822T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678936 | |||||||
chr19:50678938 | GA | G | 18 | a0001c0003t0003g0253 a0001c0003t0004g0081 a0001c0003t0004g0193 others(15): Show |
18 | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(15): Show |
intron_variant | MODIFIER | c.2578-6825delT | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678938 | |||||||
chr19:50678939 | A | ATGGGGAG others(565): Show |
1 | a0001c0003t0076g0289 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.2578-6826_2578-682 others(576): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678939 | |||||||
chr19:50678939 | A | ATGGGGAG others(527): Show |
1 | a0001c0003t0023g0080 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.2578-6826_2578-682 others(538): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678939 | |||||||
chr19:50678939 | A | ATGGGGAG others(546): Show |
20 | a0001c0003t0007g0067 a0001c0003t0010g0078 a0001c0003t0083g0086 others(17): Show |
20 | HG00597.hp2 HG01070.hp1 HG01358.hp2 others(17): Show |
intron_variant | MODIFIER | c.2578-6826_2578-682 others(557): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678939 | |||||||
chr19:50678939 | A | ATGGGGAG others(527): Show |
2 | a0001c0004t0028g0234 a0003c0005t0014g0222 |
2 | HG02976.hp1 HG04228.hp2 |
intron_variant | MODIFIER | c.2578-6826_2578-682 others(538): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678939 | |||||||
chr19:50678939 | A | ATGGGGAG others(955): Show |
4 | a0001c0003t0004g0254 a0001c0003t0007g0075 a0001c0003t0007g0089 others(1): Show |
4 | HG02145.hp2 HG02630.hp1 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.2578-6826_2578-682 others(966): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678939 | |||||||
chr19:50678943 | G | A | 7 | a0001c0002t0009g0227 a0001c0002t0012g0135 a0001c0002t0037g0007 others(4): Show |
7 | HG01074.hp2 HG01358.hp1 HG01993.hp2 others(4): Show |
intron_variant | MODIFIER | c.2578-6829C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678943 | |||||||
chr19:50678953 | G | A | 9 | a0001c0002t0001g0140 a0001c0002t0001g0191 a0001c0002t0001g0211 others(6): Show |
9 | HG00140.hp1 HG01175.hp1 HG01255.hp2 others(6): Show |
intron_variant | MODIFIER | c.2578-6839C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678953 | |||||||
chr19:50678954 | G | T | 1 | a0001c0002t0012g0135 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.2578-6840C>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678954 | |||||||
chr19:50678955 | G | A | 9 | a0001c0002t0001g0140 a0001c0002t0001g0191 a0001c0002t0001g0211 others(6): Show |
9 | HG00140.hp1 HG01175.hp1 HG01255.hp2 others(6): Show |
intron_variant | MODIFIER | c.2578-6841C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678955 | |||||||
chr19:50678957 | G | GTGGGGAG others(620): Show |
4 | a0001c0004t0008g0064 a0001c0004t0010g0060 a0001c0004t0011g0050 others(1): Show |
4 | HG01891.hp1 HG02451.hp2 HG02486.hp2 others(1): Show |
intron_variant | MODIFIER | c.2578-6844_2578-684 others(631): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678957 | |||||||
chr19:50678958 | A | AGGGGAGG others(396): Show |
2 | a0002c0001t0056g0036 a0008c0033t0002g0185 |
2 | HG01952.hp2 HG02004.hp1 |
intron_variant | MODIFIER | c.2578-6845_2578-684 others(407): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678958 | |||||||
chr19:50678958 | A | ATGGGGAG others(436): Show |
1 | a0002c0001t0066g0044 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.2578-6845_2578-684 others(447): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678958 | |||||||
chr19:50678958 | A | G | 4 | a0001c0004t0008g0064 a0001c0004t0010g0060 a0001c0004t0011g0050 others(1): Show |
4 | HG01891.hp1 HG02451.hp2 HG02486.hp2 others(1): Show |
intron_variant | MODIFIER | c.2578-6844T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678958 | |||||||
chr19:50678962 | G | A | 1 | a0001c0002t0012g0135 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.2578-6848C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678962 | |||||||
chr19:50678972 | G | A | 6 | a0001c0002t0009g0227 a0001c0002t0037g0007 a0001c0002t0051g0027 others(3): Show |
6 | HG01074.hp2 HG01358.hp1 HG02738.hp1 others(3): Show |
intron_variant | MODIFIER | c.2578-6858C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678972 | |||||||
chr19:50678973 | G | T | 1 | a0001c0002t0012g0135 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.2578-6859C>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678973 | |||||||
chr19:50678974 | G | A | 6 | a0001c0002t0009g0227 a0001c0002t0037g0007 a0001c0002t0051g0027 others(3): Show |
6 | HG01074.hp2 HG01358.hp1 HG02738.hp1 others(3): Show |
intron_variant | MODIFIER | c.2578-6860C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678974 | |||||||
chr19:50678976 | G | GA | 160 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(157): Show |
161 | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(158): Show |
intron_variant | MODIFIER | c.2578-6863_2578-686 others(5): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678976 | |||||||
chr19:50678976 | G | GATGGGGA others(164): Show |
1 | a0001c0003t0001g0061 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.2578-6863_2578-686 others(175): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678976 | |||||||
chr19:50678976 | G | GATGGGGA others(521): Show |
2 | a0001c0003t0004g0076 a0001c0018t0003g0127 |
2 | HG01891.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.2578-6863_2578-686 others(532): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678976 | |||||||
chr19:50678976 | G | GATGGGGA others(50): Show |
1 | a0003c0006t0101g0301 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.2578-6863_2578-686 others(61): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678976 | |||||||
chr19:50678976 | G | GATGGGGA others(342): Show |
1 | a0001c0002t0001g0204 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.2578-6863_2578-686 others(353): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678976 | |||||||
chr19:50678976 | G | GATGGGGA others(31): Show |
2 | a0002c0001t0027g0030 a0002c0008t0003g0208 |
2 | HG02523.hp2 HG03927.hp1 |
intron_variant | MODIFIER | c.2578-6863_2578-686 others(42): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678976 | |||||||
chr19:50678976 | G | GTGGGGAG others(303): Show |
2 | a0001c0003t0082g0174 a0014c0030t0072g0074 |
2 | HG03195.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.2578-6863_2578-686 others(314): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678976 | |||||||
chr19:50678976 | G | GTGGGGAG others(472): Show |
1 | a0013c0034t0007g0252 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.2578-6863_2578-686 others(483): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678976 | |||||||
chr19:50678976 | G | GTGGGGAG others(438): Show |
1 | a0002c0001t0008g0056 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.2578-6863_2578-686 others(449): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678976 | |||||||
chr19:50678976 | G | GTGGGGAG others(12): Show |
2 | a0002c0001t0001g0195 a0002c0008t0013g0209 |
2 | HG02004.hp2 NA19090.hp1 |
intron_variant | MODIFIER | c.2578-6863_2578-686 others(23): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678976 | |||||||
chr19:50678976 | G | GTGGGGAG others(472): Show |
1 | a0017c0037t0005g0121 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.2578-6863_2578-686 others(483): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678976 | |||||||
chr19:50678976 | G | GTGGGGAG others(969): Show |
1 | a0002c0001t0062g0041 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.2578-6863_2578-686 others(980): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678976 | |||||||
chr19:50678976 | G | GTGGGGAG others(528): Show |
1 | a0005c0022t0001g0094 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.2578-6863_2578-686 others(539): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678976 | |||||||
chr19:50678976 | G | GTGGGGAG others(399): Show |
3 | a0002c0001t0005g0153 a0002c0001t0008g0266 a0002c0001t0021g0018 |
3 | HG00738.hp2 HG01257.hp2 HG02071.hp1 |
intron_variant | MODIFIER | c.2578-6863_2578-686 others(410): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678976 | |||||||
chr19:50678976 | G | GTGGGGAG others(455): Show |
1 | a0002c0001t0070g0047 | 1 | NA19060.hp2 | intron_variant | MODIFIER | c.2578-6863_2578-686 others(466): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678976 | |||||||
chr19:50678976 | G | GTGGGGAG others(379): Show |
1 | a0002c0001t0049g0024 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.2578-6863_2578-686 others(390): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678976 | |||||||
chr19:50678976 | G | GTGGGGAG others(493): Show |
2 | a0002c0001t0005g0110 a0002c0001t0055g0033 |
2 | HG03710.hp1 HG03942.hp1 |
intron_variant | MODIFIER | c.2578-6863_2578-686 others(504): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678976 | |||||||
chr19:50678976 | G | GTGGGGAG others(398): Show |
67 | a0001c0002t0001g0150 a0001c0002t0001g0261 a0001c0002t0109g0312 others(64): Show |
67 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(64): Show |
intron_variant | MODIFIER | c.2578-6863_2578-686 others(409): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678976 | |||||||
chr19:50678976 | G | GTGGGGAG others(529): Show |
1 | a0002c0001t0002g0096 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.2578-6863_2578-686 others(540): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678976 | |||||||
chr19:50678976 | G | GTGGGGAG others(896): Show |
1 | a0002c0001t0002g0296 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.2578-6863_2578-686 others(907): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678976 | |||||||
chr19:50678976 | G | GTGGGGAG others(304): Show |
3 | a0001c0003t0004g0228 a0001c0003t0044g0011 a0003c0006t0108g0309 |
3 | HG01099.hp1 HG01255.hp1 HG04204.hp2 |
intron_variant | MODIFIER | c.2578-6863_2578-686 others(315): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678976 | |||||||
chr19:50678976 | G | GTGGGGAG others(417): Show |
1 | a0003c0006t0006g0283 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.2578-6863_2578-686 others(428): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678976 | |||||||
chr19:50678976 | G | GTGGGGAG others(436): Show |
6 | a0001c0009t0004g0247 a0002c0001t0007g0224 a0002c0001t0008g0288 others(3): Show |
7 | HG01981.hp2 HG03098.hp2 HG03486.hp2 others(4): Show |
intron_variant | MODIFIER | c.2578-6863_2578-686 others(447): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678976 | |||||||
chr19:50678976 | G | GTGGGGAG others(417): Show |
1 | a0002c0001t0002g0293 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.2578-6863_2578-686 others(428): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678976 | |||||||
chr19:50678976 | G | GTGGGGAG others(632): Show |
1 | a0002c0001t0003g0164 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.2578-6863_2578-686 others(643): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678976 | |||||||
chr19:50678976 | G | GTGGGGAG others(680): Show |
1 | a0002c0001t0002g0159 | 1 | NA18971.hp2 | intron_variant | MODIFIER | c.2578-6863_2578-686 others(691): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678976 | |||||||
chr19:50678980 | G | A | 1 | a0001c0002t0012g0135 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.2578-6866C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678980 | |||||||
chr19:50678990 | G | A | 70 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(67): Show |
71 | HG00140.hp2 HG00408.hp2 HG00438.hp2 others(68): Show |
intron_variant | MODIFIER | c.2578-6876C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678990 | |||||||
chr19:50678992 | G | A | 70 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(67): Show |
71 | HG00140.hp2 HG00408.hp2 HG00438.hp2 others(68): Show |
intron_variant | MODIFIER | c.2578-6878C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678992 | |||||||
chr19:50678992 | G | T | 1 | a0001c0007t0012g0079 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.2578-6878C>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678992 | |||||||
chr19:50678993 | T | G | 1 | a0001c0007t0012g0079 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.2578-6879A>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678993 | |||||||
chr19:50678994 | G | A | 1 | a0001c0007t0012g0079 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.2578-6880C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678994 | |||||||
chr19:50678994 | G | GA | 131 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(128): Show |
132 | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(129): Show |
intron_variant | MODIFIER | c.2578-6881_2578-688 others(5): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678994 | |||||||
chr19:50678994 | G | GATGGGAA others(880): Show |
2 | a0001c0004t0077g0249 a0001c0016t0073g0071 |
2 | HG01884.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.2578-6881_2578-688 others(891): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678994 | |||||||
chr19:50678994 | G | GATGGGAA others(825): Show |
1 | a0001c0003t0074g0073 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.2578-6881_2578-688 others(836): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678994 | |||||||
chr19:50678994 | G | GATGGGAA others(460): Show |
1 | a0003c0006t0012g0090 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.2578-6881_2578-688 others(471): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678994 | |||||||
chr19:50678994 | G | GATGGGAA others(251): Show |
1 | a0001c0039t0006g0108 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.2578-6881_2578-688 others(262): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678994 | |||||||
chr19:50678994 | G | GATGGGGA others(165): Show |
1 | a0001c0004t0028g0274 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.2578-6881_2578-688 others(176): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678994 | |||||||
chr19:50678994 | G | GATGGGGA others(788): Show |
1 | a0001c0003t0022g0248 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.2578-6881_2578-688 others(799): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678994 | |||||||
chr19:50678994 | G | GTGGGGAG others(324): Show |
1 | a0001c0003t0004g0100 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.2578-6881_2578-688 others(335): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678994 | |||||||
chr19:50678994 | G | GTGGGGAG others(229): Show |
1 | a0002c0001t0004g0136 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.2578-6881_2578-688 others(240): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678994 | |||||||
chr19:50678994 | G | GTGGGGAG others(456): Show |
1 | a0002c0001t0001g0059 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.2578-6881_2578-688 others(467): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678994 | |||||||
chr19:50678994 | G | GTGGGGAG others(1026): Show |
1 | a0002c0001t0063g0039 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.2578-6881_2578-688 others(1037): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678994 | |||||||
chr19:50678994 | G | GTGGGGAG others(304): Show |
1 | a0001c0004t0081g0084 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.2578-6881_2578-688 others(315): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678994 | |||||||
chr19:50678994 | G | GTGGGGAG others(324): Show |
2 | a0002c0001t0002g0126 a0002c0001t0005g0129 |
2 | HG01167.hp1 HG01169.hp1 |
intron_variant | MODIFIER | c.2578-6881_2578-688 others(335): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678994 | |||||||
chr19:50678994 | G | GTGGGGAG others(323): Show |
23 | a0001c0003t0003g0292 a0001c0003t0004g0057 a0001c0003t0004g0099 others(20): Show |
23 | HG00323.hp1 HG00323.hp2 HG00642.hp2 others(20): Show |
intron_variant | MODIFIER | c.2578-6881_2578-688 others(334): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678994 | |||||||
chr19:50678994 | G | GTGGGGAG others(285): Show |
1 | a0003c0006t0045g0008 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.2578-6881_2578-688 others(296): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50678994 | |||||||
chr19:50679009 | G | T | 1 | a0001c0016t0064g0042 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.2578-6895C>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50679009 | |||||||
chr19:50679012 | GA | G | 13 | a0001c0002t0001g0204 a0001c0002t0002g0221 a0001c0002t0002g0294 others(10): Show |
13 | HG02145.hp2 HG02630.hp1 HG03540.hp2 others(10): Show |
intron_variant | MODIFIER | c.2578-6899delT | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50679012 | |||||||
chr19:50679013 | A | ATGGGGAG others(431): Show |
1 | a0001c0002t0003g0144 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.2578-6900_2578-689 others(442): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50679013 | |||||||
chr19:50679013 | A | ATGGGGAG others(11): Show |
1 | a0002c0001t0038g0006 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.2578-6917_2578-690 others(22): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50679013 | |||||||
chr19:50679017 | G | A | 1 | a0001c0016t0064g0042 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.2578-6903C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50679017 | |||||||
chr19:50679027 | G | A | 17 | a0001c0002t0001g0140 a0001c0002t0001g0191 a0001c0002t0001g0211 others(14): Show |
17 | HG00140.hp1 HG01074.hp2 HG01109.hp1 others(14): Show |
intron_variant | MODIFIER | c.2578-6913C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50679027 | |||||||
chr19:50679029 | G | A | 17 | a0001c0002t0001g0140 a0001c0002t0001g0191 a0001c0002t0001g0211 others(14): Show |
17 | HG00140.hp1 HG01074.hp2 HG01109.hp1 others(14): Show |
intron_variant | MODIFIER | c.2578-6915C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50679029 | |||||||
chr19:50679029 | G | GTGATGGG others(477): Show |
1 | a0001c0038t0094g0287 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.2578-6916_2578-691 others(488): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50679029 | |||||||
chr19:50679031 | G | GTGGGGAG others(379): Show |
2 | a0001c0010t0001g0285 a0001c0010t0001g0286 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.2578-6918_2578-691 others(390): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50679031 | |||||||
chr19:50679031 | GA | G | 59 | a0001c0003t0003g0253 a0001c0003t0004g0081 a0001c0003t0004g0193 others(56): Show |
59 | HG00597.hp2 HG01070.hp1 HG01358.hp2 others(56): Show |
intron_variant | MODIFIER | c.2578-6918delT | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50679031 | |||||||
chr19:50679032 | A | ATGGGGAG others(30): Show |
1 | a0001c0004t0007g0065 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.2578-6919_2578-691 others(41): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50679032 | |||||||
chr19:50679032 | A | ATGGGGAG others(68): Show |
1 | a0001c0003t0008g0233 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.2578-6919_2578-691 others(79): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50679032 | |||||||
chr19:50679032 | A | G | 2 | a0001c0010t0001g0285 a0001c0010t0001g0286 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.2578-6918T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50679032 | |||||||
chr19:50679046 | G | A | 1 | a0002c0001t0063g0039 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.2578-6932C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50679046 | |||||||
chr19:50679048 | G | A | 1 | a0002c0001t0063g0039 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.2578-6934C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50679048 | |||||||
chr19:50679065 | A | G | 101 | a0001c0002t0001g0119 a0001c0002t0001g0140 a0001c0002t0001g0191 others(98): Show |
101 | HG00140.hp1 HG00423.hp1 HG00597.hp2 others(98): Show |
intron_variant | MODIFIER | c.2578-6951T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50679065 | |||||||
chr19:50679066 | G | T | 1 | a0001c0002t0015g0118 | 1 | NA19005.hp2 | intron_variant | MODIFIER | c.2578-6952C>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50679066 | |||||||
chr19:50679067 | A | ATGATGGG others(12): Show |
5 | a0001c0003t0074g0073 a0001c0004t0028g0274 a0001c0004t0077g0249 others(2): Show |
5 | HG01243.hp2 HG01884.hp1 HG02818.hp2 others(2): Show |
intron_variant | MODIFIER | c.2578-6972_2578-695 others(23): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50679067 | |||||||
chr19:50679067 | A | ATGATGGG others(31): Show |
64 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(61): Show |
65 | HG00140.hp2 HG00408.hp2 HG00438.hp2 others(62): Show |
intron_variant | MODIFIER | c.2578-6991_2578-695 others(42): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50679067 | |||||||
chr19:50679067 | A | ATGATGGG others(551): Show |
1 | a0001c0016t0064g0042 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.2578-6954_2578-695 others(562): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50679067 | |||||||
chr19:50679067 | A | ATGATGGG others(105): Show |
1 | a0001c0004t0008g0051 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.2578-6954_2578-695 others(116): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50679067 | |||||||
chr19:50679067 | A | G | 101 | a0001c0002t0001g0119 a0001c0002t0001g0140 a0001c0002t0001g0191 others(98): Show |
101 | HG00140.hp1 HG00423.hp1 HG00597.hp2 others(98): Show |
intron_variant | MODIFIER | c.2578-6953T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50679067 | |||||||
chr19:50679069 | GA | G | 13 | a0001c0002t0001g0204 a0001c0002t0002g0221 a0001c0002t0002g0294 others(10): Show |
13 | HG01167.hp1 HG01169.hp1 NA18960.hp2 others(10): Show |
intron_variant | MODIFIER | c.2578-6956delT | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50679069 | |||||||
chr19:50679070 | A | ATGGAGAG others(580): Show |
1 | a0001c0002t0015g0118 | 1 | NA19005.hp2 | intron_variant | MODIFIER | c.2578-6957_2578-695 others(591): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50679070 | |||||||
chr19:50679070 | A | ATGGGGAG others(105): Show |
1 | a0001c0003t0025g0009 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.2578-6957_2578-695 others(116): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50679070 | |||||||
chr19:50679070 | A | ATGGGGAG others(86): Show |
4 | a0001c0003t0010g0173 a0001c0003t0010g0284 a0001c0003t0065g0046 others(1): Show |
4 | HG01109.hp2 HG02723.hp1 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.2578-6957_2578-695 others(97): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50679070 | |||||||
chr19:50679070 | A | ATGGGGAG others(559): Show |
1 | a0001c0018t0003g0127 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.2578-6957_2578-695 others(570): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50679070 | |||||||
chr19:50679070 | A | ATGGGGAG others(540): Show |
1 | a0001c0003t0004g0076 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.2578-6957_2578-695 others(551): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50679070 | |||||||
chr19:50679070 | A | ATGGGGAG others(954): Show |
1 | a0001c0003t0001g0061 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.2578-6957_2578-695 others(965): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50679070 | |||||||
chr19:50679070 | A | ATGGGGAG others(599): Show |
2 | a0001c0002t0001g0119 a0001c0002t0058g0035 |
2 | HG00423.hp1 NA18964.hp1 |
intron_variant | MODIFIER | c.2578-6957_2578-695 others(610): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50679070 | |||||||
chr19:50679074 | G | GAAGGGGT others(60): Show |
1 | a0001c0004t0016g0066 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.2578-6961_2578-696 others(71): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50679074 | |||||||
chr19:50679084 | G | A | 33 | a0001c0003t0003g0292 a0001c0003t0004g0057 a0001c0003t0004g0099 others(30): Show |
33 | HG00323.hp1 HG00323.hp2 HG00642.hp2 others(30): Show |
intron_variant | MODIFIER | c.2578-6970C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50679084 | |||||||
chr19:50679086 | G | A | 33 | a0001c0003t0003g0292 a0001c0003t0004g0057 a0001c0003t0004g0099 others(30): Show |
33 | HG00323.hp1 HG00323.hp2 HG00642.hp2 others(30): Show |
intron_variant | MODIFIER | c.2578-6972C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50679086 | |||||||
chr19:50679103 | G | A | 1 | a0001c0004t0016g0066 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.2578-6989C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50679103 | |||||||
chr19:50679105 | G | A | 1 | a0001c0004t0016g0066 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.2578-6991C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50679105 | |||||||
chr19:50679107 | G | GA | 6 | a0001c0003t0010g0173 a0001c0003t0010g0284 a0001c0003t0025g0009 others(3): Show |
6 | HG01109.hp2 HG02109.hp2 HG02723.hp1 others(3): Show |
intron_variant | MODIFIER | c.2578-6994_2578-699 others(5): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50679107 | |||||||
chr19:50679107 | G | GATGGGGA others(13): Show |
1 | a0001c0003t0102g0303 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.2578-6994_2578-699 others(24): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50679107 | |||||||
chr19:50679107 | G | GATGGGGA others(125): Show |
1 | a0002c0001t0004g0136 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.2578-6994_2578-699 others(136): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50679107 | |||||||
chr19:50679136 | G | T | 1 | a0008c0033t0002g0185 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.2578-7022C>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50679136 | |||||||
chr19:50679175 | T | TG | 16 | a0001c0002t0006g0141 a0001c0002t0009g0196 a0001c0003t0003g0253 others(13): Show |
16 | HG00544.hp2 HG00597.hp2 HG00621.hp2 others(13): Show |
intron_variant | MODIFIER | c.2577+7061dupC | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50679175 | |||||||
chr19:50679464 | A | G | 24 | a0001c0002t0001g0119 a0001c0002t0001g0204 a0001c0002t0002g0221 others(21): Show |
24 | HG00423.hp1 HG01261.hp1 HG01891.hp2 others(21): Show |
intron_variant | MODIFIER | c.2577+6773T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50679464 | |||||||
chr19:50679490 | T | G | 26 | a0001c0002t0002g0109 a0001c0002t0002g0259 a0001c0002t0003g0058 others(23): Show |
26 | HG00408.hp2 HG00544.hp1 HG00639.hp2 others(23): Show |
intron_variant | MODIFIER | c.2577+6747A>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50679490 | |||||||
chr19:50679542 | A | C | 2 | a0001c0002t0007g0269 a0001c0020t0008g0260 |
2 | HG02886.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.2577+6695T>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50679542 | |||||||
chr19:50679736 | G | A | 1 | a0001c0003t0102g0303 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.2577+6501C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50679736 | |||||||
chr19:50679809 | C | G | 1 | a0001c0016t0064g0042 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.2577+6428G>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50679809 | |||||||
chr19:50679926 | G | T | 81 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(78): Show |
82 | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(79): Show |
intron_variant | MODIFIER | c.2577+6311C>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50679926 | |||||||
chr19:50679927 | C | T | 81 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(78): Show |
82 | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(79): Show |
intron_variant | MODIFIER | c.2577+6310G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50679927 | |||||||
chr19:50680009 | G | A | 18 | a0001c0002t0001g0119 a0001c0002t0001g0204 a0001c0002t0002g0221 others(15): Show |
18 | HG00423.hp1 HG01891.hp2 NA18950.hp2 others(15): Show |
intron_variant | MODIFIER | c.2577+6228C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50680009 | |||||||
chr19:50680093 | G | A | 1 | a0003c0005t0003g0198 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.2577+6144C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50680093 | |||||||
chr19:50680214 | G | T | 2 | a0001c0004t0008g0051 a0002c0001t0019g0223 |
2 | HG02109.hp1 HG04199.hp2 |
intron_variant | MODIFIER | c.2577+6023C>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50680214 | |||||||
chr19:50680256 | C | T | 1 | a0002c0001t0002g0296 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.2577+5981G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50680256 | |||||||
chr19:50680259 | T | C | 1 | a0002c0001t0008g0056 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.2577+5978A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50680259 | |||||||
chr19:50680342 | A | T | 3 | a0001c0007t0008g0237 a0001c0007t0042g0016 a0001c0007t0071g0049 |
3 | HG02809.hp1 HG03225.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.2577+5895T>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50680342 | |||||||
chr19:50680363 | G | A | 4 | a0001c0004t0008g0064 a0001c0004t0010g0060 a0001c0004t0011g0050 others(1): Show |
4 | HG01891.hp1 HG02451.hp2 HG02486.hp2 others(1): Show |
intron_variant | MODIFIER | c.2577+5874C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50680363 | |||||||
chr19:50680387 | G | A | 6 | a0001c0003t0012g0070 a0001c0003t0023g0239 a0001c0003t0023g0240 others(3): Show |
6 | HG02818.hp1 HG02970.hp2 HG03453.hp1 others(3): Show |
intron_variant | MODIFIER | c.2577+5850C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50680387 | |||||||
chr19:50680463 | A | G | 2 | a0002c0001t0039g0015 a0002c0001t0092g0217 |
2 | HG03834.hp2 HG03942.hp2 |
intron_variant | MODIFIER | c.2577+5774T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50680463 | |||||||
chr19:50680483 | G | A | 1 | a0001c0003t0007g0075 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.2577+5754C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50680483 | |||||||
chr19:50680493 | C | G | 5 | a0001c0003t0010g0173 a0001c0003t0010g0284 a0001c0003t0025g0009 others(2): Show |
5 | HG01109.hp2 HG02109.hp2 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.2577+5744G>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50680493 | |||||||
chr19:50680523 | A | C | 18 | a0001c0002t0001g0119 a0001c0002t0001g0204 a0001c0002t0002g0221 others(15): Show |
18 | HG00423.hp1 HG01891.hp2 NA18950.hp2 others(15): Show |
intron_variant | MODIFIER | c.2577+5714T>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50680523 | |||||||
chr19:50680591 | A | G | 27 | a0001c0003t0003g0253 a0001c0003t0004g0081 a0001c0003t0004g0193 others(24): Show |
27 | HG02055.hp1 HG02145.hp1 HG02572.hp1 others(24): Show |
intron_variant | MODIFIER | c.2577+5646T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50680591 | |||||||
chr19:50680592 | T | C | 1 | a0001c0002t0002g0259 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.2577+5645A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50680592 | |||||||
chr19:50680641 | CT | C | 16 | a0001c0002t0001g0119 a0001c0002t0001g0204 a0001c0002t0002g0221 others(13): Show |
16 | HG00423.hp1 NA18950.hp2 NA18960.hp2 others(13): Show |
intron_variant | MODIFIER | c.2577+5595delA | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50680641 | |||||||
chr19:50680656 | C | CT | 65 | a0001c0002t0001g0204 a0001c0002t0002g0109 a0001c0002t0009g0196 others(62): Show |
65 | HG00738.hp2 HG01070.hp1 HG01358.hp2 others(62): Show |
intron_variant | MODIFIER | c.2577+5580dupA | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50680656 | |||||||
chr19:50680656 | C | CTT | 6 | a0001c0003t0004g0193 a0001c0003t0022g0077 a0001c0003t0076g0289 others(3): Show |
6 | HG00597.hp2 HG02280.hp1 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.2577+5579_2577+558 others(6): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50680656 | |||||||
chr19:50680669 | T | C | 1 | a0001c0012t0006g0105 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.2577+5568A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50680669 | |||||||
chr19:50680670 | C | T | 186 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(183): Show |
187 | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(184): Show |
intron_variant | MODIFIER | c.2577+5567G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50680670 | |||||||
chr19:50680671 | C | T | 61 | a0001c0003t0003g0253 a0001c0003t0004g0081 a0001c0003t0004g0193 others(58): Show |
61 | HG00597.hp2 HG01070.hp1 HG01358.hp2 others(58): Show |
intron_variant | MODIFIER | c.2577+5566G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50680671 | |||||||
chr19:50680719 | G | A | 166 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(163): Show |
167 | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(164): Show |
intron_variant | MODIFIER | c.2577+5518C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50680719 | |||||||
chr19:50680759 | G | A | 81 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(78): Show |
82 | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(79): Show |
intron_variant | MODIFIER | c.2577+5478C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50680759 | |||||||
chr19:50680772 | C | T | 1 | a0001c0003t0074g0073 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.2577+5465G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50680772 | |||||||
chr19:50680781 | G | A | 61 | a0001c0003t0003g0253 a0001c0003t0004g0081 a0001c0003t0004g0193 others(58): Show |
61 | HG00597.hp2 HG01070.hp1 HG01358.hp2 others(58): Show |
intron_variant | MODIFIER | c.2577+5456C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50680781 | |||||||
chr19:50680805 | G | A | 81 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(78): Show |
82 | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(79): Show |
intron_variant | MODIFIER | c.2577+5432C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50680805 | |||||||
chr19:50680881 | C | A | 5 | a0001c0003t0074g0073 a0001c0004t0028g0274 a0001c0004t0077g0249 others(2): Show |
5 | HG01243.hp2 HG01884.hp1 HG02818.hp2 others(2): Show |
intron_variant | MODIFIER | c.2577+5356G>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50680881 | |||||||
chr19:50680900 | C | T | 1 | a0001c0002t0009g0180 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.2577+5337G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50680900 | |||||||
chr19:50680964 | C | T | 34 | a0001c0003t0004g0254 a0001c0003t0007g0067 a0001c0003t0007g0075 others(31): Show |
34 | HG00597.hp2 HG01070.hp1 HG01358.hp2 others(31): Show |
intron_variant | MODIFIER | c.2577+5273G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50680964 | |||||||
chr19:50681118 | C | A | 5 | a0002c0001t0004g0136 a0002c0001t0008g0265 a0002c0001t0008g0266 others(2): Show |
5 | HG01257.hp2 HG01258.hp1 HG01433.hp2 others(2): Show |
intron_variant | MODIFIER | c.2577+5119G>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50681118 | |||||||
chr19:50681168 | T | C | 61 | a0001c0003t0003g0253 a0001c0003t0004g0081 a0001c0003t0004g0193 others(58): Show |
61 | HG00597.hp2 HG01070.hp1 HG01358.hp2 others(58): Show |
intron_variant | MODIFIER | c.2577+5069A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50681168 | |||||||
chr19:50681208 | A | G | 1 | a0001c0004t0103g0310 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.2577+5029T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50681208 | |||||||
chr19:50681239 | G | A | 24 | a0001c0003t0007g0067 a0001c0003t0010g0078 a0001c0003t0023g0080 others(21): Show |
24 | HG00597.hp2 HG01070.hp1 HG01358.hp2 others(21): Show |
intron_variant | MODIFIER | c.2577+4998C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50681239 | |||||||
chr19:50681280 | A | G | 1 | a0002c0001t0019g0223 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.2577+4957T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50681280 | |||||||
chr19:50681551 | G | A | 4 | a0001c0002t0001g0182 a0001c0002t0001g0201 a0001c0002t0009g0132 others(1): Show |
4 | HG01123.hp1 HG01516.hp2 HG03491.hp2 others(1): Show |
intron_variant | MODIFIER | c.2577+4686C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50681551 | |||||||
chr19:50681731 | G | A | 16 | a0001c0002t0001g0119 a0001c0002t0001g0204 a0001c0002t0002g0221 others(13): Show |
16 | HG00423.hp1 NA18950.hp2 NA18960.hp2 others(13): Show |
intron_variant | MODIFIER | c.2577+4506C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50681731 | |||||||
chr19:50681840 | T | C | 6 | a0001c0003t0004g0076 a0001c0004t0008g0064 a0001c0004t0010g0060 others(3): Show |
6 | HG01891.hp1 HG01891.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.2577+4397A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50681840 | |||||||
chr19:50681942 | C | T | 2 | a0003c0005t0003g0101 a0003c0005t0003g0241 |
2 | HG01070.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.2577+4295G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50681942 | |||||||
chr19:50681946 | GT | G | 3 | a0001c0003t0004g0076 a0001c0018t0003g0127 a0011c0023t0012g0082 |
3 | HG01891.hp2 HG02257.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.2577+4290delA | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50681946 | |||||||
chr19:50681999 | C | G | 1 | a0001c0038t0094g0287 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.2577+4238G>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50681999 | |||||||
chr19:50682055 | C | T | 15 | a0001c0002t0001g0119 a0001c0002t0001g0204 a0001c0002t0002g0221 others(12): Show |
15 | HG00423.hp1 HG01261.hp1 NA18960.hp2 others(12): Show |
intron_variant | MODIFIER | c.2577+4182G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50682055 | |||||||
chr19:50682065 | A | AT | 101 | a0001c0002t0001g0197 a0001c0002t0002g0109 a0001c0002t0002g0259 others(98): Show |
101 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(98): Show |
intron_variant | MODIFIER | c.2577+4171dupA | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50682065 | |||||||
chr19:50682081 | G | A | 1 | a0001c0004t0014g0163 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.2577+4156C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50682081 | |||||||
chr19:50682094 | C | T | 212 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(209): Show |
213 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(210): Show |
intron_variant | MODIFIER | c.2577+4143G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50682094 | |||||||
chr19:50682113 | T | A | 1 | a0001c0015t0001g0102 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.2577+4124A>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50682113 | |||||||
chr19:50682255 | T | C | 97 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(94): Show |
98 | HG00140.hp1 HG00140.hp2 HG00621.hp2 others(95): Show |
intron_variant | MODIFIER | c.2577+3982A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50682255 | |||||||
chr19:50682476 | A | G | 5 | a0001c0003t0082g0174 a0001c0004t0077g0249 a0001c0016t0073g0071 others(2): Show |
5 | HG01884.hp1 HG03130.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.2577+3761T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50682476 | |||||||
chr19:50682607 | C | T | 1 | a0001c0003t0074g0073 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.2577+3630G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50682607 | |||||||
chr19:50682618 | T | C | 11 | a0001c0003t0003g0292 a0001c0003t0004g0099 a0001c0003t0004g0100 others(8): Show |
11 | HG00323.hp1 HG00323.hp2 HG00642.hp2 others(8): Show |
intron_variant | MODIFIER | c.2577+3619A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50682618 | |||||||
chr19:50682677 | G | T | 14 | a0001c0002t0001g0119 a0001c0002t0001g0204 a0001c0002t0002g0221 others(11): Show |
14 | HG00423.hp1 NA18960.hp2 NA18964.hp1 others(11): Show |
intron_variant | MODIFIER | c.2577+3560C>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50682677 | |||||||
chr19:50682756 | G | C | 1 | a0001c0002t0084g0231 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.2577+3481C>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50682756 | |||||||
chr19:50682824 | C | T | 92 | a0001c0002t0002g0109 a0001c0002t0002g0259 a0001c0002t0003g0058 others(89): Show |
92 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(89): Show |
intron_variant | MODIFIER | c.2577+3413G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50682824 | |||||||
chr19:50683043 | T | G | 221 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(218): Show |
222 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(219): Show |
intron_variant | MODIFIER | c.2577+3194A>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50683043 | |||||||
chr19:50683077 | C | T | 1 | a0002c0001t0021g0020 | 1 | NA18997.hp1 | intron_variant | MODIFIER | c.2577+3160G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50683077 | |||||||
chr19:50683124 | G | A | 4 | a0001c0003t0012g0070 a0001c0003t0023g0239 a0001c0003t0023g0240 others(1): Show |
4 | HG02818.hp1 HG03453.hp1 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.2577+3113C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50683124 | |||||||
chr19:50683338 | A | G | 218 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(215): Show |
219 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(216): Show |
intron_variant | MODIFIER | c.2577+2899T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50683338 | |||||||
chr19:50683350 | A | G | 19 | a0001c0002t0001g0119 a0001c0002t0001g0204 a0001c0002t0002g0221 others(16): Show |
19 | HG00423.hp1 HG01109.hp2 HG02109.hp2 others(16): Show |
intron_variant | MODIFIER | c.2577+2887T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50683350 | |||||||
chr19:50683528 | T | C | 1 | a0001c0002t0005g0257 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.2577+2709A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50683528 | |||||||
chr19:50683587 | T | C | 6 | a0001c0003t0082g0174 a0001c0004t0077g0249 a0001c0016t0073g0071 others(3): Show |
6 | HG01884.hp1 HG03130.hp1 HG03195.hp2 others(3): Show |
intron_variant | MODIFIER | c.2577+2650A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50683587 | |||||||
chr19:50683604 | C | T | 4 | a0001c0003t0012g0070 a0001c0003t0023g0239 a0001c0003t0023g0240 others(1): Show |
4 | HG02818.hp1 HG03453.hp1 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.2577+2633G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50683604 | |||||||
chr19:50683719 | C | G | 1 | a0001c0002t0091g0113 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.2577+2518G>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50683719 | |||||||
chr19:50683769 | G | A | 1 | a0001c0002t0016g0112 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.2577+2468C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50683769 | |||||||
chr19:50683799 | C | T | 1 | a0001c0038t0094g0287 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.2577+2438G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50683799 | |||||||
chr19:50683859 | A | G | 1 | a0001c0016t0064g0042 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.2577+2378T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50683859 | |||||||
chr19:50683914 | C | A | 1 | a0001c0019t0020g0235 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.2577+2323G>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50683914 | |||||||
chr19:50684017 | C | T | 4 | a0001c0002t0003g0199 a0001c0003t0080g0143 a0001c0010t0004g0189 others(1): Show |
4 | HG00735.hp2 HG01069.hp2 HG01071.hp2 others(1): Show |
intron_variant | MODIFIER | c.2577+2220G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50684017 | |||||||
chr19:50684143 | T | C | 2 | a0001c0003t0083g0086 a0001c0009t0022g0085 |
2 | HG02258.hp2 HG02572.hp2 |
intron_variant | MODIFIER | c.2577+2094A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50684143 | |||||||
chr19:50684229 | G | GT | 7 | a0001c0002t0001g0204 a0001c0002t0051g0027 a0001c0004t0026g0014 others(4): Show |
7 | HG02056.hp1 HG02738.hp1 HG03688.hp1 others(4): Show |
intron_variant | MODIFIER | c.2577+2007dupA | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50684229 | |||||||
chr19:50684229 | G | GTT | 108 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(105): Show |
109 | HG00140.hp1 HG00140.hp2 HG00621.hp2 others(106): Show |
intron_variant | MODIFIER | c.2577+2006_2577+200 others(6): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50684229 | |||||||
chr19:50684229 | G | GTTT | 12 | a0001c0002t0001g0119 a0001c0003t0011g0052 a0001c0003t0067g0045 others(9): Show |
12 | HG00423.hp1 HG01884.hp1 HG02055.hp1 others(9): Show |
intron_variant | MODIFIER | c.2577+2005_2577+200 others(7): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50684229 | |||||||
chr19:50684231 | T | G | 2 | a0001c0013t0024g0123 a0001c0013t0024g0137 |
2 | HG03225.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.2577+2006A>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50684231 | |||||||
chr19:50684369 | G | A | 2 | a0001c0016t0064g0042 a0002c0001t0011g0002 |
3 | HG01261.hp1 NA18906.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.2577+1868C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50684369 | |||||||
chr19:50684370 | C | G | 2 | a0001c0016t0064g0042 a0002c0001t0011g0002 |
3 | HG01261.hp1 NA18906.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.2577+1867G>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50684370 | |||||||
chr19:50684564 | G | C | 1 | a0001c0004t0026g0019 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.2577+1673C>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50684564 | |||||||
chr19:50684566 | G | A | 1 | a0001c0002t0006g0141 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.2577+1671C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50684566 | |||||||
chr19:50684673 | A | G | 83 | a0001c0002t0002g0109 a0001c0002t0002g0259 a0001c0002t0003g0058 others(80): Show |
83 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(80): Show |
intron_variant | MODIFIER | c.2577+1564T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50684673 | |||||||
chr19:50684989 | G | A | 4 | a0002c0001t0002g0272 a0002c0001t0005g0147 a0002c0001t0019g0160 others(1): Show |
4 | HG00673.hp1 NA18951.hp1 NA18998.hp2 others(1): Show |
intron_variant | MODIFIER | c.2577+1248C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50684989 | |||||||
chr19:50684995 | C | G | 2 | a0002c0001t0032g0156 a0002c0001t0048g0023 |
2 | HG00544.hp2 HG02056.hp2 |
intron_variant | MODIFIER | c.2577+1242G>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50684995 | |||||||
chr19:50685079 | G | A | 2 | a0001c0003t0074g0073 a0001c0003t0099g0308 |
2 | HG01243.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.2577+1158C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50685079 | |||||||
chr19:50685097 | G | A | 3 | a0001c0003t0012g0070 a0001c0003t0023g0239 a0001c0003t0023g0240 |
3 | HG02818.hp1 HG03453.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.2577+1140C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50685097 | |||||||
chr19:50685111 | G | A | 2 | a0001c0013t0024g0123 a0001c0013t0024g0137 |
2 | HG03225.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.2577+1126C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50685111 | |||||||
chr19:50685244 | T | C | 2 | a0001c0013t0024g0123 a0001c0013t0024g0137 |
2 | HG03225.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.2577+993A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50685244 | |||||||
chr19:50685264 | C | A | 209 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(206): Show |
211 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(208): Show |
intron_variant | MODIFIER | c.2577+973G>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50685264 | |||||||
chr19:50685274 | G | T | 5 | a0001c0003t0010g0173 a0001c0003t0010g0284 a0001c0003t0025g0009 others(2): Show |
5 | HG01109.hp2 HG02109.hp2 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.2577+963C>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50685274 | |||||||
chr19:50685681 | C | T | 1 | a0002c0001t0017g0134 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.2577+556G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50685681 | |||||||
chr19:50685703 | G | A | 2 | a0001c0013t0024g0123 a0001c0013t0024g0137 |
2 | HG03225.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.2577+534C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50685703 | |||||||
chr19:50685727 | A | G | 77 | a0001c0002t0001g0197 a0001c0002t0002g0109 a0001c0002t0002g0259 others(74): Show |
78 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(75): Show |
intron_variant | MODIFIER | c.2577+510T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50685727 | |||||||
chr19:50685740 | T | A | 2 | a0001c0016t0064g0042 a0011c0023t0012g0082 |
2 | HG01261.hp1 HG02257.hp2 |
intron_variant | MODIFIER | c.2577+497A>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50685740 | |||||||
chr19:50685745 | A | G | 4 | a0001c0003t0007g0067 a0001c0009t0007g0244 a0001c0009t0007g0270 others(1): Show |
4 | HG01884.hp2 HG02630.hp2 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.2577+492T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50685745 | |||||||
chr19:50685751 | T | G | 1 | a0002c0001t0005g0194 | 1 | NA18962.hp2 | intron_variant | MODIFIER | c.2577+486A>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50685751 | |||||||
chr19:50685901 | G | A | 1 | a0001c0016t0064g0042 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.2577+336C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50685901 | |||||||
chr19:50685977 | G | A | 3 | a0001c0003t0012g0070 a0001c0003t0023g0239 a0001c0003t0023g0240 |
3 | HG02818.hp1 HG03453.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.2577+260C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50685977 | |||||||
chr19:50686038 | G | A | 1 | a0010c0036t0002g0295 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.2577+199C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50686038 | |||||||
chr19:50686048 | G | GA | 102 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(99): Show |
103 | HG00140.hp1 HG00140.hp2 HG00423.hp1 others(100): Show |
intron_variant | MODIFIER | c.2577+188dupT | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50686048 | |||||||
chr19:50686071 | G | C | 1 | a0001c0004t0017g0250 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.2577+166C>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50686071 | |||||||
chr19:50686077 | C | T | 1 | a0002c0001t0038g0006 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.2577+160G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50686077 | |||||||
chr19:50686204 | C | G | 1 | a0002c0008t0068g0048 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.2577+33G>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | 50686204 | |||||||
chr19:50686488 | T | C | 1 | a0001c0002t0037g0007 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.2459-133A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 20/23 | chr19 | 50686488 | |||||||
chr19:50686657 | C | A | 1 | a0001c0016t0064g0042 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.2458+87G>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 20/23 | chr19 | 50686657 | |||||||
chr19:50686689 | G | A | 1 | a0001c0003t0001g0063 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.2458+55C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 20/23 | chr19 | 50686689 | |||||||
chr19:50686710 | C | G | 1 | a0002c0001t0002g0276 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.2458+34G>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 20/23 | chr19 | 50686710 | |||||||
chr19:50686916 | C | A | 1 | a0002c0001t0001g0116 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.2390-104G>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 19/23 | chr19 | 50686916 | |||||||
chr19:50686968 | G | C | 1 | a0002c0001t0049g0024 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.2390-156C>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 19/23 | chr19 | 50686968 | |||||||
chr19:50687244 | G | A | 1 | a0011c0023t0012g0082 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.2389+338C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 19/23 | chr19 | 50687244 | |||||||
chr19:50687377 | G | C | 1 | a0001c0003t0099g0308 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.2389+205C>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 19/23 | chr19 | 50687377 | |||||||
chr19:50687547 | C | A | 1 | a0001c0002t0016g0112 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.2389+35G>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 19/23 | chr19 | 50687547 | |||||||
chr19:50687676 | G | A | 2 | a0001c0002t0001g0186 a0004c0017t0001g0001 |
3 | HG01070.hp2 HG01071.hp1 HG02257.hp1 |
intron_variant | MODIFIER | c.2309-14C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 18/23 | chr19 | 50687676 | |||||||
chr19:50687682 | A | C | 13 | a0001c0002t0003g0144 a0002c0001t0013g0122 a0002c0001t0013g0172 others(10): Show |
13 | HG00621.hp2 HG02523.hp2 NA18966.hp1 others(10): Show |
intron_variant | MODIFIER | c.2309-20T>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 18/23 | chr19 | 50687682 | |||||||
chr19:50687695 | A | G | 1 | a0001c0003t0023g0080 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.2309-33T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 18/23 | chr19 | 50687695 | |||||||
chr19:50687734 | C | A | 1 | a0001c0002t0006g0275 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.2309-72G>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 18/23 | chr19 | 50687734 | |||||||
chr19:50687742 | G | A | 1 | a0002c0001t0002g0117 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.2309-80C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 18/23 | chr19 | 50687742 | |||||||
chr19:50687746 | A | G | 52 | a0001c0002t0009g0226 a0001c0002t0009g0227 a0001c0002t0030g0133 others(49): Show |
53 | HG00140.hp2 HG00323.hp2 HG01069.hp2 others(50): Show |
intron_variant | MODIFIER | c.2309-84T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 18/23 | chr19 | 50687746 | |||||||
chr19:50687765 | C | G | 1 | a0001c0003t0004g0057 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.2309-103G>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 18/23 | chr19 | 50687765 | |||||||
chr19:50687800 | A | C | 1 | a0001c0003t0004g0057 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.2308+123T>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 18/23 | chr19 | 50687800 | |||||||
chr19:50687861 | G | A | 2 | a0001c0003t0004g0099 a0001c0003t0004g0100 |
2 | HG01081.hp1 HG01243.hp1 |
intron_variant | MODIFIER | c.2308+62C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 18/23 | chr19 | 50687861 | |||||||
chr19:50687869 | G | A | 1 | a0002c0001t0002g0296 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.2308+54C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 18/23 | chr19 | 50687869 | |||||||
chr19:50687915 | A | G | 21 | a0001c0002t0001g0150 a0001c0002t0001g0197 a0001c0002t0001g0201 others(18): Show |
21 | HG00323.hp2 HG00639.hp2 HG01069.hp2 others(18): Show |
splice_region_variant&intron_variant | LOW | c.2308+8T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 18/23 | chr19 | 50687915 | |||||||
chr19:50688073 | C | A | 1 | a0001c0003t0010g0169 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.2173-15G>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 17/23 | chr19 | 50688073 | |||||||
chr19:50688147 | G | A | 1 | a0001c0003t0074g0073 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.2173-89C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 17/23 | chr19 | 50688147 | |||||||
chr19:50688387 | T | C | 1 | a0002c0001t0009g0148 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.2173-329A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 17/23 | chr19 | 50688387 | |||||||
chr19:50688473 | C | T | 6 | a0001c0002t0009g0098 a0001c0003t0004g0099 a0001c0003t0004g0100 others(3): Show |
6 | HG00639.hp2 HG00642.hp2 HG01081.hp1 others(3): Show |
intron_variant | MODIFIER | c.2172+371G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 17/23 | chr19 | 50688473 | |||||||
chr19:50688711 | G | A | 3 | a0001c0003t0076g0289 a0001c0013t0024g0123 a0001c0013t0024g0137 |
3 | HG02280.hp1 HG03225.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.2172+133C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 17/23 | chr19 | 50688711 | |||||||
chr19:50689183 | C | T | 1 | a0001c0015t0027g0029 | 1 | NA19090.hp2 | intron_variant | MODIFIER | c.2047+14G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 16/23 | chr19 | 50689183 | |||||||
chr19:50689360 | C | T | 1 | a0016c0029t0001g0206 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.1965-81G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50689360 | |||||||
chr19:50689882 | C | G | 1 | a0001c0002t0033g0306 | 1 | NA18997.hp2 | intron_variant | MODIFIER | c.1965-603G>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50689882 | |||||||
chr19:50689889 | G | A | 192 | a0001c0002t0001g0093 a0001c0002t0001g0097 a0001c0002t0001g0119 others(189): Show |
194 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(191): Show |
intron_variant | MODIFIER | c.1965-610C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50689889 | |||||||
chr19:50689930 | A | C | 1 | a0002c0001t0002g0183 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.1965-651T>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50689930 | |||||||
chr19:50689952 | C | T | 3 | a0001c0003t0003g0253 a0001c0014t0008g0232 a0009c0026t0061g0040 |
3 | HG02055.hp1 HG03516.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.1965-673G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50689952 | |||||||
chr19:50689990 | A | T | 2 | a0001c0003t0025g0013 a0001c0004t0077g0249 |
2 | HG02896.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.1965-711T>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50689990 | |||||||
chr19:50690049 | G | C | 72 | a0001c0002t0001g0093 a0001c0002t0001g0120 a0001c0002t0001g0140 others(69): Show |
73 | HG00140.hp1 HG00323.hp2 HG00639.hp1 others(70): Show |
intron_variant | MODIFIER | c.1965-770C>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50690049 | |||||||
chr19:50690168 | A | C | 1 | a0001c0004t0007g0065 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.1965-889T>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50690168 | |||||||
chr19:50690186 | T | C | 50 | a0001c0002t0001g0097 a0001c0002t0001g0119 a0001c0002t0001g0191 others(47): Show |
50 | HG00140.hp2 HG00423.hp1 HG00741.hp2 others(47): Show |
intron_variant | MODIFIER | c.1965-907A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50690186 | |||||||
chr19:50690289 | A | G | 5 | a0001c0003t0010g0173 a0001c0003t0025g0009 a0001c0003t0065g0046 others(2): Show |
6 | HG01109.hp2 HG02109.hp2 HG02723.hp1 others(3): Show |
intron_variant | MODIFIER | c.1965-1010T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50690289 | |||||||
chr19:50690830 | A | G | 2 | a0001c0002t0002g0259 a0002c0001t0013g0122 |
2 | HG02129.hp1 NA19067.hp1 |
intron_variant | MODIFIER | c.1965-1551T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50690830 | |||||||
chr19:50690886 | C | G | 1 | a0001c0003t0010g0169 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.1965-1607G>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50690886 | |||||||
chr19:50691129 | G | A | 2 | a0002c0001t0015g0205 a0002c0001t0070g0047 |
2 | NA18969.hp1 NA19060.hp2 |
intron_variant | MODIFIER | c.1965-1850C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50691129 | |||||||
chr19:50691155 | G | C | 1 | a0001c0003t0003g0292 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.1965-1876C>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50691155 | |||||||
chr19:50691291 | A | G | 68 | a0001c0002t0001g0197 a0001c0002t0001g0251 a0001c0002t0002g0294 others(65): Show |
68 | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(65): Show |
intron_variant | MODIFIER | c.1965-2012T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50691291 | |||||||
chr19:50691350 | C | G | 7 | a0001c0003t0001g0061 a0001c0004t0010g0060 a0001c0004t0011g0050 others(4): Show |
7 | HG01261.hp1 HG01891.hp1 HG02451.hp2 others(4): Show |
intron_variant | MODIFIER | c.1965-2071G>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50691350 | |||||||
chr19:50691398 | T | C | 4 | a0001c0004t0081g0084 a0001c0014t0008g0232 a0001c0014t0087g0242 others(1): Show |
4 | HG01261.hp1 HG03471.hp1 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.1965-2119A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50691398 | |||||||
chr19:50691421 | A | C | 12 | a0001c0003t0023g0239 a0001c0003t0023g0240 a0001c0003t0067g0045 others(9): Show |
12 | HG02145.hp1 HG02258.hp1 HG02486.hp1 others(9): Show |
intron_variant | MODIFIER | c.1965-2142T>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50691421 | |||||||
chr19:50691854 | C | CT | 35 | a0001c0002t0001g0095 a0001c0002t0001g0197 a0001c0002t0002g0259 others(32): Show |
35 | HG00735.hp1 HG00735.hp2 HG01081.hp2 others(32): Show |
intron_variant | MODIFIER | c.1965-2576dupA | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50691854 | |||||||
chr19:50691895 | C | A | 1 | a0001c0003t0004g0193 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1965-2616G>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50691895 | |||||||
chr19:50692015 | G | C | 1 | a0001c0003t0023g0080 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.1965-2736C>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50692015 | |||||||
chr19:50692122 | A | G | 1 | a0002c0001t0039g0015 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.1965-2843T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50692122 | |||||||
chr19:50692456 | G | GATATATA others(3): Show |
1 | a0001c0002t0002g0294 | 1 | NA18960.hp2 | intron_variant | MODIFIER | c.1965-3187_1965-317 others(14): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50692456 | |||||||
chr19:50692456 | G | GATATATA others(5): Show |
1 | a0013c0034t0007g0252 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.1965-3189_1965-317 others(16): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50692456 | |||||||
chr19:50692456 | G | GATATATA others(9): Show |
1 | a0001c0003t0074g0073 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.1965-3193_1965-317 others(20): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50692456 | |||||||
chr19:50692456 | G | GATATATA others(13): Show |
1 | a0001c0004t0011g0050 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.1965-3178_1965-317 others(24): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50692456 | |||||||
chr19:50692456 | G | GATATATA others(19): Show |
4 | a0001c0003t0102g0303 a0001c0013t0024g0123 a0001c0013t0024g0137 others(1): Show |
4 | HG02258.hp1 HG03225.hp1 HG03710.hp1 others(1): Show |
intron_variant | MODIFIER | c.1965-3178_1965-317 others(30): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50692456 | |||||||
chr19:50692456 | G | GATATATA others(21): Show |
6 | a0001c0002t0006g0238 a0001c0002t0014g0202 a0001c0003t0004g0100 others(3): Show |
6 | HG00735.hp1 HG01243.hp1 HG02280.hp1 others(3): Show |
intron_variant | MODIFIER | c.1965-3178_1965-317 others(32): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50692456 | |||||||
chr19:50692456 | G | GATATATA others(23): Show |
4 | a0001c0002t0003g0277 a0001c0003t0099g0308 a0001c0009t0007g0270 others(1): Show |
4 | HG02647.hp1 HG02976.hp2 HG03017.hp1 others(1): Show |
intron_variant | MODIFIER | c.1965-3178_1965-317 others(34): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50692456 | |||||||
chr19:50692456 | G | GATATATA others(25): Show |
4 | a0001c0003t0004g0099 a0001c0003t0023g0080 a0002c0001t0002g0213 others(1): Show |
4 | HG01081.hp1 HG02735.hp1 NA18522.hp2 others(1): Show |
intron_variant | MODIFIER | c.1965-3178_1965-317 others(36): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50692456 | |||||||
chr19:50692456 | G | GATATATA others(27): Show |
5 | a0001c0002t0001g0097 a0001c0002t0001g0197 a0001c0002t0040g0010 others(2): Show |
5 | HG01081.hp2 HG01168.hp2 HG01169.hp2 others(2): Show |
intron_variant | MODIFIER | c.1965-3178_1965-317 others(38): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50692456 | |||||||
chr19:50692456 | G | GATATATA others(29): Show |
5 | a0001c0002t0001g0095 a0001c0002t0009g0098 a0001c0002t0010g0200 others(2): Show |
5 | HG00423.hp2 HG00639.hp2 HG01106.hp2 others(2): Show |
intron_variant | MODIFIER | c.1965-3178_1965-317 others(40): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50692456 | |||||||
chr19:50692456 | G | GATATATA others(31): Show |
2 | a0001c0002t0003g0199 a0001c0002t0105g0304 |
2 | HG00735.hp2 HG04184.hp2 |
intron_variant | MODIFIER | c.1965-3178_1965-317 others(42): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50692456 | |||||||
chr19:50692456 | G | GATATATA others(33): Show |
2 | a0001c0003t0044g0011 a0002c0001t0060g0038 |
2 | HG01099.hp1 NA19084.hp1 |
intron_variant | MODIFIER | c.1965-3178_1965-317 others(44): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50692456 | |||||||
chr19:50692456 | G | GATATATA others(35): Show |
1 | a0001c0003t0004g0193 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1965-3178_1965-317 others(46): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50692456 | |||||||
chr19:50692456 | G | GATATATA others(37): Show |
2 | a0001c0002t0015g0118 a0015c0025t0004g0282 |
2 | HG03516.hp2 NA19005.hp2 |
intron_variant | MODIFIER | c.1965-3178_1965-317 others(48): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50692456 | |||||||
chr19:50692456 | G | GATATATA others(39): Show |
1 | a0001c0003t0075g0125 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1965-3178_1965-317 others(50): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50692456 | |||||||
chr19:50692456 | G | GATATATA others(41): Show |
1 | a0001c0003t0017g0088 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1965-3178_1965-317 others(52): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50692456 | |||||||
chr19:50692456 | GATAT | G | 3 | a0001c0003t0001g0061 a0001c0003t0025g0013 a0001c0004t0010g0060 |
3 | HG01891.hp1 HG02896.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.1965-3181_1965-317 others(8): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50692456 | |||||||
chr19:50692472 | T | C | 2 | a0001c0003t0001g0061 a0001c0004t0010g0060 |
2 | HG01891.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.1965-3193A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50692472 | |||||||
chr19:50692472 | T | TATATATA others(27): Show |
1 | a0002c0001t0086g0149 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.1965-3194_1965-319 others(38): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50692472 | |||||||
chr19:50692472 | T | TATATATA others(31): Show |
2 | a0002c0001t0002g0126 a0002c0001t0005g0129 |
2 | HG01167.hp1 HG01169.hp1 |
intron_variant | MODIFIER | c.1965-3194_1965-319 others(42): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50692472 | |||||||
chr19:50692474 | C | T | 27 | a0001c0002t0001g0095 a0001c0002t0001g0197 a0001c0002t0002g0294 others(24): Show |
27 | HG00423.hp2 HG00735.hp2 HG01081.hp1 others(24): Show |
intron_variant | MODIFIER | c.1965-3195G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50692474 | |||||||
chr19:50692526 | A | G | 1 | a0001c0021t0006g0103 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.1965-3247T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50692526 | |||||||
chr19:50692634 | C | T | 63 | a0001c0002t0001g0093 a0001c0002t0001g0140 a0001c0002t0001g0150 others(60): Show |
64 | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(61): Show |
intron_variant | MODIFIER | c.1965-3355G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50692634 | |||||||
chr19:50692679 | C | T | 1 | a0001c0003t0003g0292 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.1965-3400G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50692679 | |||||||
chr19:50692751 | T | C | 3 | a0001c0003t0074g0073 a0001c0004t0011g0050 a0013c0034t0007g0252 |
3 | HG01243.hp2 HG02451.hp2 HG02896.hp1 |
intron_variant | MODIFIER | c.1965-3472A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50692751 | |||||||
chr19:50692767 | C | T | 5 | a0001c0003t0023g0239 a0001c0003t0023g0240 a0001c0003t0025g0013 others(2): Show |
5 | HG02486.hp2 HG02818.hp2 HG02896.hp2 others(2): Show |
intron_variant | MODIFIER | c.1965-3488G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50692767 | |||||||
chr19:50692828 | C | G | 1 | a0001c0003t0074g0073 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.1965-3549G>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50692828 | |||||||
chr19:50692855 | C | A | 1 | a0001c0003t0022g0077 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.1965-3576G>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50692855 | |||||||
chr19:50692867 | T | C | 1 | a0001c0002t0052g0026 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.1965-3588A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50692867 | |||||||
chr19:50692872 | G | A | 1 | a0001c0003t0010g0078 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1965-3593C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50692872 | |||||||
chr19:50693048 | C | T | 4 | a0001c0002t0001g0251 a0001c0002t0006g0236 a0001c0002t0041g0017 others(1): Show |
4 | HG01074.hp2 HG01192.hp1 HG01257.hp1 others(1): Show |
intron_variant | MODIFIER | c.1965-3769G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50693048 | |||||||
chr19:50693074 | ATCCGTGG others(5): Show |
A | 3 | a0001c0002t0001g0182 a0001c0002t0010g0200 a0002c0001t0088g0281 |
3 | HG01106.hp2 HG01516.hp2 HG01975.hp1 |
intron_variant | MODIFIER | c.1965-3807_1965-379 others(16): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50693074 | |||||||
chr19:50693078 | G | A | 1 | a0001c0002t0012g0135 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.1965-3799C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50693078 | |||||||
chr19:50693156 | T | C | 1 | a0001c0004t0016g0066 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.1965-3877A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50693156 | |||||||
chr19:50693172 | T | C | 2 | a0001c0003t0010g0284 a0003c0006t0006g0283 |
2 | HG02451.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.1965-3893A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50693172 | |||||||
chr19:50693290 | G | A | 1 | a0001c0002t0033g0306 | 1 | NA18997.hp2 | intron_variant | MODIFIER | c.1964+3806C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50693290 | |||||||
chr19:50693296 | C | T | 50 | a0001c0002t0001g0093 a0001c0002t0001g0140 a0001c0002t0001g0150 others(47): Show |
51 | HG00140.hp1 HG00408.hp1 HG00621.hp1 others(48): Show |
intron_variant | MODIFIER | c.1964+3800G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50693296 | |||||||
chr19:50693312 | G | A | 4 | a0001c0003t0003g0292 a0001c0014t0008g0232 a0001c0014t0087g0242 others(1): Show |
4 | HG00323.hp2 HG01261.hp1 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.1964+3784C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50693312 | |||||||
chr19:50693442 | C | T | 3 | a0001c0007t0008g0237 a0001c0007t0042g0016 a0001c0007t0071g0049 |
3 | HG02809.hp1 HG03225.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.1964+3654G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50693442 | |||||||
chr19:50693585 | A | G | 9 | a0001c0003t0067g0045 a0001c0003t0076g0289 a0001c0003t0083g0086 others(6): Show |
9 | HG02145.hp1 HG02258.hp2 HG02280.hp1 others(6): Show |
intron_variant | MODIFIER | c.1964+3511T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50693585 | |||||||
chr19:50693715 | G | T | 1 | a0013c0034t0007g0252 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.1964+3381C>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50693715 | |||||||
chr19:50693717 | C | T | 9 | a0001c0003t0067g0045 a0001c0003t0076g0289 a0001c0003t0083g0086 others(6): Show |
9 | HG02145.hp1 HG02258.hp2 HG02280.hp1 others(6): Show |
intron_variant | MODIFIER | c.1964+3379G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50693717 | |||||||
chr19:50694019 | C | CCA | 57 | a0001c0002t0001g0204 a0001c0002t0001g0211 a0001c0002t0002g0109 others(54): Show |
57 | HG00438.hp1 HG00597.hp1 HG00733.hp2 others(54): Show |
intron_variant | MODIFIER | c.1964+3075_1964+307 others(6): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50694019 | |||||||
chr19:50694019 | C | CCACA | 17 | a0001c0002t0001g0093 a0001c0002t0001g0140 a0001c0002t0003g0277 others(14): Show |
17 | HG00423.hp2 HG00639.hp1 HG00639.hp2 others(14): Show |
intron_variant | MODIFIER | c.1964+3073_1964+307 others(8): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50694019 | |||||||
chr19:50694019 | C | CCACACA | 5 | a0001c0002t0001g0197 a0001c0002t0009g0181 a0001c0002t0109g0312 others(2): Show |
5 | HG00438.hp2 HG00621.hp1 HG00673.hp2 others(2): Show |
intron_variant | MODIFIER | c.1964+3071_1964+307 others(10): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50694019 | |||||||
chr19:50694019 | C | CCACACAC others(3): Show |
2 | a0001c0004t0026g0019 a0003c0005t0014g0222 |
2 | HG01192.hp2 HG04228.hp2 |
intron_variant | MODIFIER | c.1964+3067_1964+307 others(14): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50694019 | |||||||
chr19:50694019 | C | CCACACAC others(5): Show |
2 | a0001c0002t0001g0201 a0001c0003t0035g0004 |
2 | HG01123.hp1 NA18964.hp2 |
intron_variant | MODIFIER | c.1964+3065_1964+307 others(16): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50694019 | |||||||
chr19:50694019 | CCA | C | 36 | a0001c0002t0001g0120 a0001c0002t0001g0182 a0001c0002t0005g0115 others(33): Show |
36 | HG00323.hp1 HG00408.hp2 HG00544.hp1 others(33): Show |
intron_variant | MODIFIER | c.1964+3075_1964+307 others(6): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50694019 | |||||||
chr19:50694019 | CCACA | C | 65 | a0001c0002t0001g0191 a0001c0002t0001g0251 a0001c0002t0006g0236 others(62): Show |
65 | HG00140.hp2 HG00597.hp2 HG00733.hp1 others(62): Show |
intron_variant | MODIFIER | c.1964+3073_1964+307 others(8): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50694019 | |||||||
chr19:50694019 | CCACACA | C | 13 | a0001c0002t0001g0095 a0001c0002t0003g0199 a0001c0002t0010g0200 others(10): Show |
13 | HG00735.hp2 HG00741.hp2 HG01106.hp1 others(10): Show |
intron_variant | MODIFIER | c.1964+3071_1964+307 others(10): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50694019 | |||||||
chr19:50694019 | CCACACAC others(1): Show |
C | 6 | a0001c0002t0095g0072 a0001c0007t0012g0079 a0001c0014t0008g0232 others(3): Show |
6 | HG01074.hp1 HG02071.hp2 HG04199.hp2 others(3): Show |
intron_variant | MODIFIER | c.1964+3069_1964+307 others(12): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50694019 | |||||||
chr19:50694019 | CCACACAC others(3): Show |
C | 1 | a0001c0018t0078g0124 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.1964+3067_1964+307 others(14): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50694019 | |||||||
chr19:50694019 | CCACACAC others(5): Show |
C | 2 | a0001c0003t0011g0052 a0001c0003t0012g0053 |
2 | HG03139.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1964+3065_1964+307 others(16): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50694019 | |||||||
chr19:50694019 | CCACACAC others(7): Show |
C | 8 | a0001c0003t0004g0076 a0001c0003t0007g0075 a0001c0003t0010g0078 others(5): Show |
8 | HG02145.hp2 HG02165.hp2 HG02257.hp2 others(5): Show |
intron_variant | MODIFIER | c.1964+3063_1964+307 others(18): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50694019 | |||||||
chr19:50694019 | CCACACAC others(15): Show |
C | 1 | a0001c0003t0003g0292 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.1964+3055_1964+307 others(26): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50694019 | |||||||
chr19:50694063 | A | G | 1 | a0001c0004t0011g0050 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.1964+3033T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50694063 | |||||||
chr19:50694182 | C | G | 3 | a0001c0002t0015g0118 a0001c0002t0052g0026 a0002c0001t0013g0122 |
3 | HG02135.hp2 NA19005.hp2 NA19067.hp1 |
intron_variant | MODIFIER | c.1964+2914G>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50694182 | |||||||
chr19:50694185 | T | A | 6 | a0001c0002t0034g0003 a0001c0003t0023g0080 a0001c0003t0099g0308 others(3): Show |
6 | HG02976.hp2 HG03195.hp2 HG03225.hp1 others(3): Show |
intron_variant | MODIFIER | c.1964+2911A>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50694185 | |||||||
chr19:50694828 | G | A | 1 | a0016c0029t0001g0206 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.1964+2268C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50694828 | |||||||
chr19:50694841 | C | G | 54 | a0001c0002t0001g0093 a0001c0002t0001g0140 a0001c0002t0001g0150 others(51): Show |
55 | HG00140.hp1 HG00408.hp1 HG00621.hp1 others(52): Show |
intron_variant | MODIFIER | c.1964+2255G>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50694841 | |||||||
chr19:50694842 | G | C | 54 | a0001c0002t0001g0093 a0001c0002t0001g0140 a0001c0002t0001g0150 others(51): Show |
55 | HG00140.hp1 HG00408.hp1 HG00621.hp1 others(52): Show |
intron_variant | MODIFIER | c.1964+2254C>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50694842 | |||||||
chr19:50694879 | G | A | 2 | a0001c0011t0001g0278 a0003c0006t0005g0280 |
2 | HG00323.hp1 HG04115.hp1 |
intron_variant | MODIFIER | c.1964+2217C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50694879 | |||||||
chr19:50694882 | G | A | 1 | a0001c0003t0003g0292 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.1964+2214C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50694882 | |||||||
chr19:50694883 | G | A | 1 | a0001c0009t0007g0270 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.1964+2213C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50694883 | |||||||
chr19:50694887 | C | T | 1 | a0001c0003t0008g0233 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.1964+2209G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50694887 | |||||||
chr19:50695047 | G | GCGGCCCC others(5): Show |
1 | a0003c0005t0032g0170 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.1964+2037_1964+204 others(16): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50695047 | |||||||
chr19:50695181 | A | AG | 37 | a0001c0002t0001g0191 a0001c0002t0001g0204 a0001c0002t0005g0257 others(34): Show |
37 | HG00438.hp2 HG00544.hp1 HG00597.hp2 others(34): Show |
intron_variant | MODIFIER | c.1964+1914dupC | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50695181 | |||||||
chr19:50695205 | A | AC | 7 | a0001c0002t0001g0191 a0001c0002t0006g0111 a0001c0002t0009g0181 others(4): Show |
7 | HG00438.hp2 HG01175.hp1 HG01261.hp1 others(4): Show |
intron_variant | MODIFIER | c.1964+1890dupG | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50695205 | |||||||
chr19:50695251 | G | GGGGGCGC others(8): Show |
1 | a0001c0004t0077g0249 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1964+1830_1964+184 others(19): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50695251 | |||||||
chr19:50695258 | C | CG | 6 | a0001c0002t0105g0304 a0002c0001t0019g0279 a0002c0001t0062g0041 others(3): Show |
6 | HG01975.hp1 HG02809.hp2 HG04184.hp2 others(3): Show |
intron_variant | MODIFIER | c.1964+1837dupC | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50695258 | |||||||
chr19:50695410 | G | C | 1 | a0002c0008t0013g0209 | 1 | NA19090.hp1 | intron_variant | MODIFIER | c.1964+1686C>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50695410 | |||||||
chr19:50695480 | G | A | 1 | a0001c0003t0111g0314 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.1964+1616C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50695480 | |||||||
chr19:50695914 | C | A | 10 | a0001c0003t0017g0088 a0001c0003t0067g0045 a0001c0003t0075g0125 others(7): Show |
10 | HG02145.hp1 HG02258.hp2 HG02280.hp1 others(7): Show |
intron_variant | MODIFIER | c.1964+1182G>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50695914 | |||||||
chr19:50695965 | C | A | 257 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(254): Show |
259 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(256): Show |
intron_variant | MODIFIER | c.1964+1131G>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50695965 | |||||||
chr19:50695981 | C | G | 8 | a0001c0003t0067g0045 a0001c0003t0076g0289 a0001c0003t0083g0086 others(5): Show |
8 | HG02145.hp1 HG02258.hp2 HG02280.hp1 others(5): Show |
intron_variant | MODIFIER | c.1964+1115G>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50695981 | |||||||
chr19:50696150 | C | T | 2 | a0001c0003t0003g0292 a0001c0016t0064g0042 |
2 | HG00323.hp2 HG01261.hp1 |
intron_variant | MODIFIER | c.1964+946G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50696150 | |||||||
chr19:50696314 | C | T | 222 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(219): Show |
224 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(221): Show |
intron_variant | MODIFIER | c.1964+782G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50696314 | |||||||
chr19:50696343 | G | A | 1 | a0001c0007t0007g0218 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.1964+753C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50696343 | |||||||
chr19:50696413 | C | T | 10 | a0001c0003t0099g0308 a0001c0003t0102g0303 a0001c0004t0007g0065 others(7): Show |
10 | HG01261.hp1 HG02109.hp1 HG02258.hp1 others(7): Show |
intron_variant | MODIFIER | c.1964+683G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50696413 | |||||||
chr19:50696574 | C | T | 1 | a0001c0003t0012g0053 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.1964+522G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50696574 | |||||||
chr19:50696683 | C | T | 8 | a0001c0003t0067g0045 a0001c0003t0076g0289 a0001c0003t0083g0086 others(5): Show |
8 | HG02145.hp1 HG02258.hp2 HG02280.hp1 others(5): Show |
intron_variant | MODIFIER | c.1964+413G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50696683 | |||||||
chr19:50696698 | G | A | 1 | a0001c0016t0064g0042 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.1964+398C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50696698 | |||||||
chr19:50696713 | C | T | 2 | a0001c0003t0001g0061 a0001c0004t0010g0060 |
2 | HG01891.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.1964+383G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50696713 | |||||||
chr19:50696717 | C | T | 3 | a0001c0002t0100g0300 a0001c0003t0001g0063 a0001c0003t0036g0005 |
3 | HG00741.hp2 HG01106.hp1 HG03669.hp1 |
intron_variant | MODIFIER | c.1964+379G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50696717 | |||||||
chr19:50696746 | A | T | 2 | a0001c0002t0001g0097 a0001c0002t0040g0010 |
2 | HG01168.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.1964+350T>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50696746 | |||||||
chr19:50696816 | G | A | 227 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(224): Show |
229 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(226): Show |
intron_variant | MODIFIER | c.1964+280C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50696816 | |||||||
chr19:50696825 | G | C | 1 | a0001c0038t0094g0287 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.1964+271C>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50696825 | |||||||
chr19:50696888 | G | C | 28 | a0001c0002t0001g0251 a0001c0002t0006g0236 a0001c0002t0009g0226 others(25): Show |
28 | HG00642.hp2 HG01074.hp1 HG01074.hp2 others(25): Show |
intron_variant | MODIFIER | c.1964+208C>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50696888 | |||||||
chr19:50696941 | A | G | 2 | a0001c0004t0011g0050 a0001c0016t0064g0042 |
2 | HG01261.hp1 HG02451.hp2 |
intron_variant | MODIFIER | c.1964+155T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50696941 | |||||||
chr19:50697033 | G | GC | 55 | a0001c0002t0001g0191 a0001c0002t0001g0251 a0001c0002t0006g0236 others(52): Show |
56 | HG00140.hp2 HG00642.hp2 HG00733.hp1 others(53): Show |
intron_variant | MODIFIER | c.1964+62dupG | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | 50697033 | |||||||
chr19:50697127 | C | A | 1 | a0001c0003t0012g0070 | 1 | HG02818.hp1 | splice_region_variant&intron_variant | LOW | c.1938-5G>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 14/23 | chr19 | 50697127 | |||||||
chr19:50697209 | G | A | 51 | a0001c0002t0001g0093 a0001c0002t0001g0140 a0001c0002t0001g0178 others(48): Show |
52 | HG00140.hp1 HG00621.hp1 HG00639.hp1 others(49): Show |
intron_variant | MODIFIER | c.1938-87C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 14/23 | chr19 | 50697209 | |||||||
chr19:50697407 | G | A | 1 | a0012c0031t0029g0130 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.1937+182C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 14/23 | chr19 | 50697407 | |||||||
chr19:50697513 | T | C | 2 | a0001c0003t0010g0284 a0003c0006t0006g0283 |
2 | HG02451.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.1937+76A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 14/23 | chr19 | 50697513 | |||||||
chr19:50697537 | G | A | 1 | a0001c0014t0008g0232 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.1937+52C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 14/23 | chr19 | 50697537 | |||||||
chr19:50697549 | T | G | 4 | a0001c0002t0009g0180 a0002c0001t0048g0023 a0002c0028t0020g0091 others(1): Show |
4 | HG02056.hp2 HG02074.hp2 HG02132.hp1 others(1): Show |
intron_variant | MODIFIER | c.1937+40A>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 14/23 | chr19 | 50697549 | |||||||
chr19:50698134 | C | T | 1 | a0002c0001t0009g0192 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.1748-178G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 12/23 | chr19 | 50698134 | |||||||
chr19:50698183 | C | CTG | 33 | a0001c0003t0001g0061 a0001c0003t0003g0253 a0001c0003t0003g0292 others(30): Show |
33 | HG00323.hp2 HG01109.hp2 HG01884.hp1 others(30): Show |
intron_variant | MODIFIER | c.1748-229_1748-228d others(4): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 12/23 | chr19 | 50698183 | |||||||
chr19:50698225 | A | G | 19 | a0001c0003t0010g0173 a0001c0003t0011g0052 a0001c0003t0012g0053 others(16): Show |
19 | HG01109.hp2 HG01261.hp1 HG01891.hp2 others(16): Show |
intron_variant | MODIFIER | c.1748-269T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 12/23 | chr19 | 50698225 | |||||||
chr19:50698227 | T | A | 2 | a0002c0001t0003g0161 a0002c0001t0019g0160 |
2 | HG00673.hp1 NA18960.hp1 |
intron_variant | MODIFIER | c.1748-271A>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 12/23 | chr19 | 50698227 | |||||||
chr19:50698252 | G | T | 2 | a0001c0003t0012g0070 a0001c0009t0007g0270 |
2 | HG02647.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.1748-296C>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 12/23 | chr19 | 50698252 | |||||||
chr19:50698311 | C | T | 79 | a0001c0002t0001g0095 a0001c0002t0001g0097 a0001c0002t0001g0120 others(76): Show |
79 | HG00323.hp1 HG00408.hp1 HG00423.hp2 others(76): Show |
intron_variant | MODIFIER | c.1748-355G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 12/23 | chr19 | 50698311 | |||||||
chr19:50698338 | C | G | 2 | a0001c0003t0001g0061 a0001c0004t0010g0060 |
2 | HG01891.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.1748-382G>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 12/23 | chr19 | 50698338 | |||||||
chr19:50698463 | C | G | 1 | a0001c0004t0016g0083 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1748-507G>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 12/23 | chr19 | 50698463 | |||||||
chr19:50698465 | T | C | 1 | a0001c0004t0011g0050 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.1748-509A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 12/23 | chr19 | 50698465 | |||||||
chr19:50698510 | C | T | 2 | a0001c0003t0001g0061 a0001c0004t0010g0060 |
2 | HG01891.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.1748-554G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 12/23 | chr19 | 50698510 | |||||||
chr19:50698598 | T | C | 2 | a0001c0003t0102g0303 a0001c0038t0094g0287 |
2 | HG02258.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.1748-642A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 12/23 | chr19 | 50698598 | |||||||
chr19:50698611 | C | T | 1 | a0001c0016t0064g0042 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.1748-655G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 12/23 | chr19 | 50698611 | |||||||
chr19:50698656 | G | C | 1 | a0014c0030t0072g0074 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1748-700C>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 12/23 | chr19 | 50698656 | |||||||
chr19:50698688 | G | C | 1 | a0014c0030t0072g0074 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1748-732C>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 12/23 | chr19 | 50698688 | |||||||
chr19:50698904 | C | T | 4 | a0001c0002t0018g0128 a0001c0007t0008g0237 a0001c0007t0042g0016 others(1): Show |
4 | HG02809.hp1 HG03209.hp2 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.1748-948G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 12/23 | chr19 | 50698904 | |||||||
chr19:50699262 | G | A | 2 | a0001c0003t0001g0061 a0001c0004t0010g0060 |
2 | HG01891.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.1748-1306C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 12/23 | chr19 | 50699262 | |||||||
chr19:50699295 | G | A | 1 | a0002c0001t0002g0187 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.1748-1339C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 12/23 | chr19 | 50699295 | |||||||
chr19:50699312 | T | C | 3 | a0001c0004t0007g0065 a0001c0004t0008g0051 a0014c0030t0072g0074 |
3 | HG02109.hp1 HG03195.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.1748-1356A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 12/23 | chr19 | 50699312 | |||||||
chr19:50699509 | G | A | 2 | a0001c0003t0011g0052 a0001c0003t0012g0053 |
2 | HG03139.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1748-1553C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 12/23 | chr19 | 50699509 | |||||||
chr19:50699627 | A | G | 1 | a0002c0001t0009g0192 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.1748-1671T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 12/23 | chr19 | 50699627 | |||||||
chr19:50699675 | G | T | 1 | a0001c0003t0074g0073 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.1748-1719C>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 12/23 | chr19 | 50699675 | |||||||
chr19:50699681 | T | C | 1 | a0003c0005t0016g0162 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.1748-1725A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 12/23 | chr19 | 50699681 | |||||||
chr19:50699809 | GGAGGGAT others(18): Show |
G | 1 | a0001c0002t0001g0150 | 1 | HG01168.hp1 | intron_variant | MODIFIER | c.1748-1878_1748-185 others(29): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 12/23 | chr19 | 50699809 | |||||||
chr19:50699937 | G | A | 1 | a0001c0015t0001g0102 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.1748-1981C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 12/23 | chr19 | 50699937 | |||||||
chr19:50699956 | A | G | 1 | a0001c0016t0064g0042 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.1748-2000T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 12/23 | chr19 | 50699956 | |||||||
chr19:50699962 | GGGCTCGG others(43): Show |
G | 1 | a0001c0016t0064g0042 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.1748-2056_1748-200 others(54): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 12/23 | chr19 | 50699962 | |||||||
chr19:50699965 | CTCGGGGC others(18): Show |
C | 7 | a0001c0003t0003g0253 a0001c0003t0007g0067 a0001c0003t0090g0069 others(4): Show |
7 | HG01884.hp1 HG02055.hp2 HG02630.hp2 others(4): Show |
intron_variant | MODIFIER | c.1748-2034_1748-201 others(29): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 12/23 | chr19 | 50699965 | |||||||
chr19:50699972 | CATTGGAG others(51): Show |
C | 1 | a0001c0003t0004g0254 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.1748-2074_1748-201 others(62): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 12/23 | chr19 | 50699972 | |||||||
chr19:50699987 | GGGATCGG others(18): Show |
G | 1 | a0001c0009t0022g0085 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.1748-2056_1748-203 others(29): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 12/23 | chr19 | 50699987 | |||||||
chr19:50699990 | ATCGGGGC others(43): Show |
A | 100 | a0001c0002t0001g0095 a0001c0002t0001g0097 a0001c0002t0001g0120 others(97): Show |
100 | HG00323.hp1 HG00408.hp1 HG00423.hp2 others(97): Show |
intron_variant | MODIFIER | c.1748-2084_1748-203 others(54): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 12/23 | chr19 | 50699990 | |||||||
chr19:50700012 | A | G | 2 | a0001c0002t0034g0003 a0001c0003t0003g0292 |
2 | HG00323.hp2 HG03490.hp1 |
intron_variant | MODIFIER | c.1748-2056T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 12/23 | chr19 | 50700012 | |||||||
chr19:50700018 | GGGGCATT others(43): Show |
G | 57 | a0001c0002t0001g0191 a0001c0002t0001g0251 a0001c0002t0002g0221 others(54): Show |
58 | HG00140.hp2 HG00733.hp1 HG00738.hp1 others(55): Show |
intron_variant | MODIFIER | c.1748-2112_1748-206 others(54): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 12/23 | chr19 | 50700018 | |||||||
chr19:50700040 | C | A | 4 | a0001c0002t0034g0003 a0001c0003t0003g0292 a0001c0003t0004g0254 others(1): Show |
4 | HG00323.hp2 HG02572.hp2 HG03490.hp1 others(1): Show |
intron_variant | MODIFIER | c.1748-2084G>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 12/23 | chr19 | 50700040 | |||||||
chr19:50700042 | C | T | 1 | a0001c0016t0064g0042 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.1748-2086G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 12/23 | chr19 | 50700042 | |||||||
chr19:50700043 | G | A | 7 | a0001c0003t0003g0253 a0001c0003t0007g0067 a0001c0003t0090g0069 others(4): Show |
7 | HG01884.hp1 HG02055.hp2 HG02630.hp2 others(4): Show |
intron_variant | MODIFIER | c.1748-2087C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 12/23 | chr19 | 50700043 | |||||||
chr19:50700068 | A | G | 3 | a0001c0003t0004g0254 a0001c0003t0010g0078 a0001c0016t0064g0042 |
3 | HG01261.hp1 HG02965.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.1748-2112T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 12/23 | chr19 | 50700068 | |||||||
chr19:50700081 | A | G | 4 | a0001c0003t0011g0052 a0001c0003t0012g0053 a0001c0018t0003g0127 others(1): Show |
4 | HG01891.hp2 HG02970.hp2 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.1748-2125T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 12/23 | chr19 | 50700081 | |||||||
chr19:50700091 | T | C | 2 | a0001c0002t0034g0003 a0001c0003t0003g0292 |
2 | HG00323.hp2 HG03490.hp1 |
intron_variant | MODIFIER | c.1748-2135A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 12/23 | chr19 | 50700091 | |||||||
chr19:50700298 | GAGGGCTC others(18): Show |
G | 1 | a0001c0002t0100g0300 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.1747+2144_1747+216 others(29): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 12/23 | chr19 | 50700298 | |||||||
chr19:50700355 | C | T | 80 | a0001c0002t0001g0095 a0001c0002t0001g0097 a0001c0002t0001g0120 others(77): Show |
80 | HG00323.hp1 HG00408.hp1 HG00423.hp2 others(77): Show |
intron_variant | MODIFIER | c.1747+2112G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 12/23 | chr19 | 50700355 | |||||||
chr19:50700494 | C | T | 1 | a0001c0004t0014g0163 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.1747+1973G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 12/23 | chr19 | 50700494 | |||||||
chr19:50700506 | G | A | 1 | a0001c0003t0025g0013 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.1747+1961C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 12/23 | chr19 | 50700506 | |||||||
chr19:50700533 | T | C | 3 | a0001c0004t0007g0065 a0001c0004t0008g0051 a0014c0030t0072g0074 |
3 | HG02109.hp1 HG03195.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.1747+1934A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 12/23 | chr19 | 50700533 | |||||||
chr19:50700792 | C | G | 5 | a0001c0003t0067g0045 a0001c0003t0083g0086 a0001c0004t0081g0084 others(2): Show |
5 | HG02145.hp1 HG02258.hp2 HG02572.hp2 others(2): Show |
intron_variant | MODIFIER | c.1747+1675G>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 12/23 | chr19 | 50700792 | |||||||
chr19:50700875 | C | G | 1 | a0001c0003t0102g0303 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1747+1592G>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 12/23 | chr19 | 50700875 | |||||||
chr19:50701117 | T | G | 7 | a0001c0003t0003g0253 a0001c0003t0007g0067 a0001c0003t0090g0069 others(4): Show |
7 | HG01884.hp1 HG02055.hp2 HG02630.hp2 others(4): Show |
intron_variant | MODIFIER | c.1747+1350A>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 12/23 | chr19 | 50701117 | |||||||
chr19:50701193 | CT | C | 197 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(194): Show |
198 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(195): Show |
intron_variant | MODIFIER | c.1747+1273delA | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 12/23 | chr19 | 50701193 | |||||||
chr19:50701193 | CTT | C | 7 | a0001c0002t0034g0003 a0001c0002t0105g0304 a0001c0003t0001g0061 others(4): Show |
8 | HG01070.hp2 HG01071.hp1 HG01515.hp1 others(5): Show |
intron_variant | MODIFIER | c.1747+1272_1747+127 others(6): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 12/23 | chr19 | 50701193 | |||||||
chr19:50701348 | A | AT | 54 | a0001c0002t0001g0093 a0001c0002t0001g0140 a0001c0002t0001g0178 others(51): Show |
55 | HG00140.hp1 HG00438.hp2 HG00621.hp1 others(52): Show |
intron_variant | MODIFIER | c.1747+1118dupA | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 12/23 | chr19 | 50701348 | |||||||
chr19:50701348 | AT | A | 86 | a0001c0002t0001g0095 a0001c0002t0001g0097 a0001c0002t0001g0120 others(83): Show |
86 | HG00323.hp1 HG00408.hp1 HG00423.hp2 others(83): Show |
intron_variant | MODIFIER | c.1747+1118delA | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 12/23 | chr19 | 50701348 | |||||||
chr19:50701452 | G | A | 2 | a0001c0004t0007g0065 a0001c0004t0008g0051 |
2 | HG02109.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.1747+1015C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 12/23 | chr19 | 50701452 | |||||||
chr19:50701552 | T | C | 1 | a0001c0004t0011g0050 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.1747+915A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 12/23 | chr19 | 50701552 | |||||||
chr19:50701594 | AT | A | 47 | a0001c0002t0001g0093 a0001c0002t0001g0140 a0001c0002t0001g0178 others(44): Show |
48 | HG00140.hp1 HG00438.hp2 HG00621.hp1 others(45): Show |
intron_variant | MODIFIER | c.1747+872delA | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 12/23 | chr19 | 50701594 | |||||||
chr19:50701655 | G | A | 1 | a0015c0025t0004g0282 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.1747+812C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 12/23 | chr19 | 50701655 | |||||||
chr19:50701755 | T | G | 1 | a0001c0002t0014g0202 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.1747+712A>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 12/23 | chr19 | 50701755 | |||||||
chr19:50701770 | C | T | 1 | a0001c0004t0081g0084 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.1747+697G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 12/23 | chr19 | 50701770 | |||||||
chr19:50701840 | A | C | 83 | a0001c0002t0001g0095 a0001c0002t0001g0097 a0001c0002t0001g0120 others(80): Show |
83 | HG00323.hp1 HG00408.hp1 HG00423.hp2 others(80): Show |
intron_variant | MODIFIER | c.1747+627T>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 12/23 | chr19 | 50701840 | |||||||
chr19:50701876 | A | T | 55 | a0001c0002t0001g0191 a0001c0002t0001g0251 a0001c0002t0002g0221 others(52): Show |
56 | HG00140.hp2 HG00733.hp1 HG00738.hp1 others(53): Show |
intron_variant | MODIFIER | c.1747+591T>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 12/23 | chr19 | 50701876 | |||||||
chr19:50702059 | A | G | 47 | a0001c0002t0001g0093 a0001c0002t0001g0140 a0001c0002t0001g0178 others(44): Show |
48 | HG00140.hp1 HG00438.hp2 HG00621.hp1 others(45): Show |
intron_variant | MODIFIER | c.1747+408T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 12/23 | chr19 | 50702059 | |||||||
chr19:50702151 | G | GTTGAGGG others(2): Show |
159 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(156): Show |
160 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(157): Show |
intron_variant | MODIFIER | c.1747+315_1747+316i others(11): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 12/23 | chr19 | 50702151 | |||||||
chr19:50702182 | A | G | 1 | a0001c0003t0110g0313 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.1747+285T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 12/23 | chr19 | 50702182 | |||||||
chr19:50702333 | C | T | 1 | a0001c0003t0007g0089 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1747+134G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 12/23 | chr19 | 50702333 | |||||||
chr19:50702403 | C | A | 2 | a0001c0019t0020g0235 a0001c0038t0094g0287 |
2 | HG03041.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.1747+64G>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 12/23 | chr19 | 50702403 | |||||||
chr19:50702664 | C | T | 7 | a0001c0003t0004g0076 a0001c0003t0007g0075 a0001c0003t0010g0078 others(4): Show |
7 | HG02145.hp2 HG02257.hp2 HG02559.hp2 others(4): Show |
splice_region_variant&intron_variant | LOW | c.1554-4G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 11/23 | chr19 | 50702664 | |||||||
chr19:50702706 | GA | G | 8 | a0001c0003t0004g0076 a0001c0003t0007g0075 a0001c0003t0010g0078 others(5): Show |
8 | HG02145.hp2 HG02257.hp2 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.1554-47delT | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 11/23 | chr19 | 50702706 | |||||||
chr19:50702749 | C | T | 1 | a0012c0031t0029g0130 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.1554-89G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 11/23 | chr19 | 50702749 | |||||||
chr19:50702757 | CA | C | 9 | a0001c0003t0023g0080 a0001c0003t0023g0239 a0001c0003t0023g0240 others(6): Show |
9 | HG02486.hp2 HG02818.hp2 HG02886.hp2 others(6): Show |
intron_variant | MODIFIER | c.1554-98delT | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 11/23 | chr19 | 50702757 | |||||||
chr19:50702796 | A | G | 234 | a0001c0002t0001g0093 a0001c0002t0001g0097 a0001c0002t0001g0140 others(231): Show |
236 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(233): Show |
intron_variant | MODIFIER | c.1554-136T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 11/23 | chr19 | 50702796 | |||||||
chr19:50702832 | G | A | 1 | a0002c0001t0009g0148 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.1554-172C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 11/23 | chr19 | 50702832 | |||||||
chr19:50702889 | C | T | 1 | a0001c0007t0007g0218 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.1554-229G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 11/23 | chr19 | 50702889 | |||||||
chr19:50702892 | G | A | 2 | a0001c0003t0001g0061 a0001c0004t0010g0060 |
2 | HG01891.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.1554-232C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 11/23 | chr19 | 50702892 | |||||||
chr19:50702906 | C | T | 2 | a0001c0002t0009g0132 a0001c0002t0085g0131 |
2 | HG03491.hp2 HG03492.hp2 |
intron_variant | MODIFIER | c.1554-246G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 11/23 | chr19 | 50702906 | |||||||
chr19:50703125 | T | C | 116 | a0001c0002t0001g0093 a0001c0002t0001g0120 a0001c0002t0001g0140 others(113): Show |
118 | HG00140.hp1 HG00323.hp2 HG00438.hp2 others(115): Show |
intron_variant | MODIFIER | c.1553+375A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 11/23 | chr19 | 50703125 | |||||||
chr19:50703352 | A | G | 1 | a0003c0005t0014g0222 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.1553+148T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 11/23 | chr19 | 50703352 | |||||||
chr19:50703360 | G | A | 4 | a0001c0003t0012g0053 a0001c0013t0024g0123 a0001c0013t0024g0137 others(1): Show |
4 | HG02886.hp2 HG03139.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.1553+140C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 11/23 | chr19 | 50703360 | |||||||
chr19:50703438 | G | A | 12 | a0001c0002t0001g0120 a0001c0003t0010g0169 a0001c0010t0001g0285 others(9): Show |
12 | HG01069.hp1 HG01256.hp2 HG01257.hp2 others(9): Show |
intron_variant | MODIFIER | c.1553+62C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 11/23 | chr19 | 50703438 | |||||||
chr19:50703462 | G | A | 1 | a0001c0004t0016g0083 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1553+38C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 11/23 | chr19 | 50703462 | |||||||
chr19:50703839 | G | A | 2 | a0002c0001t0002g0175 a0002c0001t0002g0176 |
2 | HG01256.hp2 HG01258.hp2 |
intron_variant | MODIFIER | c.1223-9C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 10/23 | chr19 | 50703839 | |||||||
chr19:50703992 | T | C | 2 | a0002c0001t0001g0116 a0002c0001t0046g0012 |
2 | HG00438.hp1 NA19011.hp2 |
intron_variant | MODIFIER | c.1222+128A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 10/23 | chr19 | 50703992 | |||||||
chr19:50704030 | C | T | 9 | a0001c0002t0011g0087 a0001c0003t0074g0073 a0001c0003t0076g0289 others(6): Show |
9 | HG01243.hp2 HG02258.hp2 HG02280.hp1 others(6): Show |
intron_variant | MODIFIER | c.1222+90G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 10/23 | chr19 | 50704030 | |||||||
chr19:50704043 | C | T | 1 | a0001c0002t0051g0027 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.1222+77G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 10/23 | chr19 | 50704043 | |||||||
chr19:50704056 | C | A | 2 | a0001c0002t0018g0128 a0001c0003t0102g0303 |
2 | HG02258.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.1222+64G>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 10/23 | chr19 | 50704056 | |||||||
chr19:50704251 | C | T | 49 | a0001c0002t0001g0093 a0001c0002t0001g0140 a0001c0002t0001g0178 others(46): Show |
50 | HG00140.hp1 HG00438.hp2 HG00639.hp1 others(47): Show |
intron_variant | MODIFIER | c.1156-65G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 9/23 | chr19 | 50704251 | |||||||
chr19:50704270 | C | T | 12 | a0001c0003t0003g0253 a0001c0003t0004g0193 a0001c0003t0007g0067 others(9): Show |
12 | HG01891.hp2 HG02055.hp2 HG02630.hp2 others(9): Show |
intron_variant | MODIFIER | c.1156-84G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 9/23 | chr19 | 50704270 | |||||||
chr19:50704285 | A | T | 1 | a0002c0001t0055g0033 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.1156-99T>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 9/23 | chr19 | 50704285 | |||||||
chr19:50704289 | C | T | 5 | a0001c0002t0058g0035 a0001c0015t0027g0029 a0002c0001t0005g0147 others(2): Show |
5 | HG02074.hp1 NA18951.hp1 NA18962.hp2 others(2): Show |
intron_variant | MODIFIER | c.1156-103G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 9/23 | chr19 | 50704289 | |||||||
chr19:50704371 | A | G | 1 | a0001c0003t0074g0073 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.1155+66T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 9/23 | chr19 | 50704371 | |||||||
chr19:50704518 | C | T | 49 | a0001c0002t0001g0093 a0001c0002t0001g0140 a0001c0002t0001g0178 others(46): Show |
50 | HG00140.hp1 HG00438.hp2 HG00639.hp1 others(47): Show |
splice_region_variant&intron_variant | LOW | c.1078-4G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50704518 | |||||||
chr19:50704571 | C | T | 5 | a0001c0003t0010g0173 a0001c0003t0010g0284 a0001c0003t0025g0009 others(2): Show |
5 | HG01109.hp2 HG02109.hp2 HG02451.hp1 others(2): Show |
intron_variant | MODIFIER | c.1078-57G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50704571 | |||||||
chr19:50704630 | C | T | 2 | a0001c0002t0018g0128 a0001c0003t0102g0303 |
2 | HG02258.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.1078-116G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50704630 | |||||||
chr19:50704689 | C | T | 13 | a0001c0002t0018g0128 a0001c0003t0004g0193 a0001c0003t0010g0173 others(10): Show |
13 | HG01109.hp2 HG01891.hp2 HG02109.hp2 others(10): Show |
intron_variant | MODIFIER | c.1078-175G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50704689 | |||||||
chr19:50704701 | A | G | 1 | a0001c0003t0025g0013 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.1078-187T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50704701 | |||||||
chr19:50704744 | A | C | 1 | a0001c0004t0028g0234 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.1078-230T>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50704744 | |||||||
chr19:50704761 | A | G | 14 | a0001c0002t0001g0191 a0001c0002t0084g0231 a0001c0002t0104g0307 others(11): Show |
14 | HG00140.hp2 HG00738.hp1 HG01175.hp1 others(11): Show |
intron_variant | MODIFIER | c.1078-247T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50704761 | |||||||
chr19:50704865 | A | G | 2 | a0001c0002t0034g0003 a0001c0003t0003g0292 |
2 | HG00323.hp2 HG03490.hp1 |
intron_variant | MODIFIER | c.1078-351T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50704865 | |||||||
chr19:50704997 | G | A | 8 | a0001c0002t0018g0128 a0001c0003t0004g0193 a0001c0003t0102g0303 others(5): Show |
8 | HG01891.hp2 HG02258.hp1 HG02970.hp2 others(5): Show |
intron_variant | MODIFIER | c.1078-483C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50704997 | |||||||
chr19:50705018 | G | C | 1 | a0003c0006t0014g0216 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.1078-504C>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50705018 | |||||||
chr19:50705170 | G | A | 1 | a0002c0001t0013g0256 | 1 | NA19074.hp2 | intron_variant | MODIFIER | c.1078-656C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50705170 | |||||||
chr19:50705335 | C | CT | 4 | a0001c0014t0008g0232 a0001c0014t0087g0242 a0001c0018t0003g0127 others(1): Show |
4 | HG01891.hp2 HG02970.hp2 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.1078-822dupA | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50705335 | |||||||
chr19:50705350 | A | T | 73 | a0001c0002t0001g0120 a0001c0002t0001g0251 a0001c0002t0002g0221 others(70): Show |
74 | HG00733.hp1 HG01069.hp1 HG01074.hp1 others(71): Show |
intron_variant | MODIFIER | c.1078-836T>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50705350 | |||||||
chr19:50705362 | G | A | 1 | a0006c0027t0011g0230 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.1078-848C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50705362 | |||||||
chr19:50705388 | T | C | 41 | a0001c0002t0001g0120 a0001c0002t0001g0211 a0001c0002t0001g0251 others(38): Show |
42 | HG00733.hp1 HG01069.hp1 HG01074.hp1 others(39): Show |
intron_variant | MODIFIER | c.1078-874A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50705388 | |||||||
chr19:50705416 | T | C | 2 | a0001c0002t0018g0128 a0001c0003t0102g0303 |
2 | HG02258.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.1078-902A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50705416 | |||||||
chr19:50705580 | C | A | 1 | a0001c0003t0025g0013 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.1078-1066G>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50705580 | |||||||
chr19:50705605 | C | G | 1 | a0002c0001t0002g0267 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.1078-1091G>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50705605 | |||||||
chr19:50705695 | A | G | 3 | a0001c0003t0010g0284 a0001c0019t0020g0235 a0003c0006t0006g0283 |
3 | HG02451.hp1 HG03041.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.1078-1181T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50705695 | |||||||
chr19:50705725 | C | G | 1 | a0002c0001t0038g0006 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.1078-1211G>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50705725 | |||||||
chr19:50705753 | C | T | 1 | a0001c0003t0010g0078 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1078-1239G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50705753 | |||||||
chr19:50705754 | G | A | 1 | a0001c0004t0017g0250 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.1078-1240C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50705754 | |||||||
chr19:50705757 | C | T | 73 | a0001c0002t0001g0095 a0001c0002t0001g0097 a0001c0002t0001g0119 others(70): Show |
73 | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(70): Show |
intron_variant | MODIFIER | c.1078-1243G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50705757 | |||||||
chr19:50705906 | C | T | 1 | a0002c0001t0018g0262 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.1078-1392G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50705906 | |||||||
chr19:50705922 | C | T | 54 | a0001c0002t0001g0093 a0001c0002t0001g0140 a0001c0002t0001g0178 others(51): Show |
55 | HG00140.hp1 HG00438.hp2 HG00639.hp1 others(52): Show |
intron_variant | MODIFIER | c.1078-1408G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50705922 | |||||||
chr19:50705929 | G | A | 2 | a0001c0002t0034g0003 a0001c0003t0003g0292 |
2 | HG00323.hp2 HG03490.hp1 |
intron_variant | MODIFIER | c.1078-1415C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50705929 | |||||||
chr19:50706108 | T | C | 7 | a0001c0003t0004g0076 a0001c0003t0007g0075 a0001c0003t0010g0078 others(4): Show |
7 | HG02145.hp2 HG02257.hp2 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.1078-1594A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50706108 | |||||||
chr19:50706182 | G | T | 2 | a0001c0003t0004g0193 a0001c0038t0094g0287 |
2 | HG03098.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.1078-1668C>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50706182 | |||||||
chr19:50706412 | G | T | 1 | a0012c0031t0029g0130 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.1078-1898C>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50706412 | |||||||
chr19:50706523 | C | T | 1 | a0002c0001t0018g0146 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.1078-2009G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50706523 | |||||||
chr19:50706605 | C | T | 1 | a0015c0025t0004g0282 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.1078-2091G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50706605 | |||||||
chr19:50706635 | C | T | 6 | a0001c0003t0003g0253 a0001c0003t0007g0067 a0001c0003t0090g0069 others(3): Show |
6 | HG02055.hp2 HG02630.hp2 HG03130.hp2 others(3): Show |
intron_variant | MODIFIER | c.1078-2121G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50706635 | |||||||
chr19:50706642 | T | C | 1 | a0002c0001t0013g0122 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.1078-2128A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50706642 | |||||||
chr19:50706644 | T | G | 1 | a0002c0001t0021g0018 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.1078-2130A>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50706644 | |||||||
chr19:50706692 | G | A | 222 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(219): Show |
224 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(221): Show |
intron_variant | MODIFIER | c.1078-2178C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50706692 | |||||||
chr19:50706706 | G | C | 2 | a0002c0001t0015g0205 a0002c0001t0070g0047 |
2 | NA18969.hp1 NA19060.hp2 |
intron_variant | MODIFIER | c.1078-2192C>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50706706 | |||||||
chr19:50706724 | G | A | 2 | a0001c0003t0001g0061 a0001c0004t0010g0060 |
2 | HG01891.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.1078-2210C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50706724 | |||||||
chr19:50706727 | T | TA | 6 | a0001c0002t0002g0221 a0001c0003t0007g0055 a0002c0001t0002g0171 others(3): Show |
6 | HG01515.hp1 HG02055.hp2 NA18974.hp1 others(3): Show |
intron_variant | MODIFIER | c.1078-2214dupT | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50706727 | |||||||
chr19:50706727 | TA | T | 49 | a0001c0002t0001g0093 a0001c0002t0001g0140 a0001c0002t0001g0178 others(46): Show |
50 | HG00140.hp1 HG00438.hp2 HG00639.hp1 others(47): Show |
intron_variant | MODIFIER | c.1078-2214delT | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50706727 | |||||||
chr19:50706807 | C | T | 4 | a0001c0003t0023g0239 a0001c0003t0023g0240 a0001c0004t0008g0064 others(1): Show |
4 | HG02486.hp2 HG02809.hp2 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.1078-2293G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50706807 | |||||||
chr19:50707194 | A | G | 129 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(126): Show |
130 | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(127): Show |
intron_variant | MODIFIER | c.1078-2680T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50707194 | |||||||
chr19:50707236 | A | G | 213 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(210): Show |
215 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(212): Show |
intron_variant | MODIFIER | c.1078-2722T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50707236 | |||||||
chr19:50707248 | G | C | 1 | a0001c0019t0020g0235 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1078-2734C>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50707248 | |||||||
chr19:50707278 | C | T | 58 | a0001c0002t0001g0093 a0001c0002t0001g0140 a0001c0002t0001g0178 others(55): Show |
59 | HG00140.hp1 HG00438.hp2 HG00639.hp1 others(56): Show |
intron_variant | MODIFIER | c.1078-2764G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50707278 | |||||||
chr19:50707507 | G | A | 2 | a0001c0002t0001g0251 a0001c0002t0006g0236 |
2 | HG01257.hp1 HG01496.hp2 |
intron_variant | MODIFIER | c.1078-2993C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50707507 | |||||||
chr19:50707511 | A | G | 72 | a0001c0002t0001g0120 a0001c0002t0001g0191 a0001c0002t0001g0251 others(69): Show |
73 | HG00140.hp2 HG00733.hp1 HG00738.hp1 others(70): Show |
intron_variant | MODIFIER | c.1078-2997T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50707511 | |||||||
chr19:50707564 | CT | C | 215 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(212): Show |
217 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(214): Show |
intron_variant | MODIFIER | c.1078-3051delA | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50707564 | |||||||
chr19:50707619 | G | A | 1 | a0012c0031t0029g0130 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.1078-3105C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50707619 | |||||||
chr19:50707621 | C | T | 2 | a0001c0003t0010g0284 a0003c0006t0006g0283 |
2 | HG02451.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.1078-3107G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50707621 | |||||||
chr19:50707656 | G | A | 2 | a0001c0003t0001g0061 a0001c0004t0010g0060 |
2 | HG01891.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.1078-3142C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50707656 | |||||||
chr19:50707714 | T | A | 2 | a0001c0002t0018g0128 a0001c0003t0102g0303 |
2 | HG02258.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.1078-3200A>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50707714 | |||||||
chr19:50707752 | C | T | 1 | a0002c0001t0107g0305 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.1078-3238G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50707752 | |||||||
chr19:50707824 | C | T | 2 | a0001c0003t0001g0061 a0001c0004t0010g0060 |
2 | HG01891.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.1078-3310G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50707824 | |||||||
chr19:50707869 | T | C | 3 | a0001c0003t0076g0289 a0001c0003t0110g0313 a0002c0001t0008g0288 |
3 | HG02280.hp1 HG02717.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.1078-3355A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50707869 | |||||||
chr19:50707876 | T | TTTTTC | 4 | a0001c0002t0003g0062 a0001c0002t0033g0306 a0001c0003t0036g0005 others(1): Show |
4 | HG00673.hp1 HG00741.hp2 HG01255.hp2 others(1): Show |
intron_variant | MODIFIER | c.1078-3367_1078-336 others(9): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50707876 | |||||||
chr19:50707876 | T | TTTTTCTT others(3): Show |
2 | a0001c0011t0001g0278 a0003c0005t0016g0162 |
2 | HG00323.hp1 NA18970.hp2 |
intron_variant | MODIFIER | c.1078-3372_1078-336 others(14): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50707876 | |||||||
chr19:50707876 | T | TTTTTCTT others(8): Show |
3 | a0001c0002t0050g0028 a0001c0002t0100g0300 a0002c0001t0018g0146 |
3 | HG00733.hp2 HG02738.hp2 HG03669.hp1 |
intron_variant | MODIFIER | c.1078-3377_1078-336 others(19): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50707876 | |||||||
chr19:50707876 | T | TTTTTCTT others(13): Show |
1 | a0001c0002t0009g0196 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.1078-3382_1078-336 others(24): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50707876 | |||||||
chr19:50707876 | T | TTTTTCTT others(18): Show |
1 | a0001c0002t0001g0150 | 1 | HG01168.hp1 | intron_variant | MODIFIER | c.1078-3387_1078-336 others(29): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50707876 | |||||||
chr19:50707876 | T | TTTTTCTT others(23): Show |
1 | a0002c0001t0005g0153 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.1078-3392_1078-336 others(34): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50707876 | |||||||
chr19:50707876 | T | TTTTTCTT others(133): Show |
1 | a0002c0001t0086g0149 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.1078-3363_1078-336 others(144): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50707876 | |||||||
chr19:50707876 | T | TTTTTCTT others(233): Show |
1 | a0002c0001t0088g0281 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.1078-3363_1078-336 others(244): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50707876 | |||||||
chr19:50707876 | TTTTTC | T | 21 | a0001c0002t0001g0201 a0001c0002t0001g0204 a0001c0002t0006g0275 others(18): Show |
21 | HG01106.hp1 HG01123.hp1 HG01256.hp2 others(18): Show |
intron_variant | MODIFIER | c.1078-3367_1078-336 others(9): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50707876 | |||||||
chr19:50707876 | TTTTTCTT others(3): Show |
T | 23 | a0001c0002t0001g0119 a0001c0002t0003g0277 a0001c0002t0005g0115 others(20): Show |
23 | HG00408.hp2 HG00423.hp1 HG00597.hp1 others(20): Show |
intron_variant | MODIFIER | c.1078-3372_1078-336 others(14): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50707876 | |||||||
chr19:50707876 | TTTTTCTT others(8): Show |
T | 35 | a0001c0002t0001g0211 a0001c0002t0001g0251 a0001c0002t0002g0109 others(32): Show |
35 | HG00423.hp2 HG00544.hp1 HG00544.hp2 others(32): Show |
intron_variant | MODIFIER | c.1078-3377_1078-336 others(19): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50707876 | |||||||
chr19:50707876 | TTTTTCTT others(13): Show |
T | 26 | a0001c0002t0001g0095 a0001c0002t0001g0261 a0001c0002t0002g0259 others(23): Show |
26 | HG00438.hp1 HG00642.hp2 HG00733.hp1 others(23): Show |
intron_variant | MODIFIER | c.1078-3382_1078-336 others(24): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50707876 | |||||||
chr19:50707876 | TTTTTCTT others(18): Show |
T | 25 | a0001c0002t0007g0269 a0001c0002t0041g0017 a0001c0002t0058g0035 others(22): Show |
25 | HG01074.hp1 HG01192.hp1 HG01243.hp2 others(22): Show |
intron_variant | MODIFIER | c.1078-3387_1078-336 others(29): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50707876 | |||||||
chr19:50707876 | TTTTTCTT others(23): Show |
T | 27 | a0001c0002t0002g0221 a0001c0002t0052g0026 a0001c0003t0001g0061 others(24): Show |
27 | HG00408.hp1 HG00597.hp2 HG01515.hp1 others(24): Show |
intron_variant | MODIFIER | c.1078-3392_1078-336 others(34): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50707876 | |||||||
chr19:50707876 | TTTTTCTT others(28): Show |
T | 33 | a0001c0002t0001g0182 a0001c0002t0003g0058 a0001c0002t0009g0132 others(30): Show |
33 | HG00438.hp2 HG01069.hp2 HG01071.hp2 others(30): Show |
intron_variant | MODIFIER | c.1078-3397_1078-336 others(39): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50707876 | |||||||
chr19:50707876 | TTTTTCTT others(33): Show |
T | 49 | a0001c0002t0001g0093 a0001c0002t0001g0120 a0001c0002t0001g0178 others(46): Show |
50 | HG00323.hp2 HG00639.hp1 HG00642.hp1 others(47): Show |
intron_variant | MODIFIER | c.1078-3402_1078-336 others(44): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50707876 | |||||||
chr19:50707876 | TTTTTCTT others(38): Show |
T | 15 | a0001c0002t0001g0140 a0001c0002t0009g0184 a0001c0002t0018g0128 others(12): Show |
15 | HG00140.hp1 HG01261.hp2 HG01884.hp1 others(12): Show |
intron_variant | MODIFIER | c.1078-3407_1078-336 others(49): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50707876 | |||||||
chr19:50707876 | TTTTTCTT others(43): Show |
T | 1 | a0002c0001t0001g0195 | 1 | HG02004.hp2 | intron_variant | MODIFIER | c.1078-3412_1078-336 others(54): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50707876 | |||||||
chr19:50707876 | TTTTTCTT others(48): Show |
T | 3 | a0001c0002t0019g0273 a0001c0014t0087g0242 a0002c0001t0002g0272 |
3 | HG03471.hp1 NA18998.hp2 NA19056.hp1 |
intron_variant | MODIFIER | c.1078-3417_1078-336 others(59): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50707876 | |||||||
chr19:50707876 | TTTTTCTT others(53): Show |
T | 6 | a0001c0003t0003g0253 a0001c0003t0007g0067 a0001c0003t0090g0069 others(3): Show |
6 | HG02055.hp2 HG02630.hp2 HG03130.hp2 others(3): Show |
intron_variant | MODIFIER | c.1078-3422_1078-336 others(64): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50707876 | |||||||
chr19:50707886 | CTTTTCTT others(6): Show |
C | 1 | a0001c0002t0001g0197 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.1078-3385_1078-337 others(17): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50707886 | |||||||
chr19:50707886 | CTTTTCTT others(16): Show |
C | 1 | a0002c0001t0027g0030 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.1078-3395_1078-337 others(27): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50707886 | |||||||
chr19:50707886 | CTTTTCTT others(21): Show |
C | 2 | a0001c0002t0084g0231 a0001c0002t0104g0307 |
2 | HG00140.hp2 HG00738.hp1 |
intron_variant | MODIFIER | c.1078-3400_1078-337 others(32): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50707886 | |||||||
chr19:50707886 | CTTTTCTT others(31): Show |
C | 1 | a0001c0002t0001g0191 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.1078-3410_1078-337 others(42): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50707886 | |||||||
chr19:50707888 | TTTCTTTT others(6): Show |
T | 1 | a0001c0002t0009g0098 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.1078-3387_1078-337 others(17): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50707888 | |||||||
chr19:50707888 | TTTCTTTT others(11): Show |
T | 7 | a0001c0002t0001g0097 a0001c0002t0040g0010 a0001c0003t0004g0099 others(4): Show |
7 | HG01081.hp1 HG01099.hp1 HG01168.hp2 others(4): Show |
intron_variant | MODIFIER | c.1078-3392_1078-337 others(22): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50707888 | |||||||
chr19:50707888 | TTTCTTTT others(16): Show |
T | 5 | a0001c0002t0105g0304 a0001c0003t0007g0089 a0002c0001t0005g0110 others(2): Show |
5 | HG01070.hp1 HG03942.hp1 HG04184.hp2 others(2): Show |
intron_variant | MODIFIER | c.1078-3397_1078-337 others(27): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50707888 | |||||||
chr19:50707888 | TTTCTTTT others(21): Show |
T | 1 | a0001c0003t0080g0143 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.1078-3402_1078-337 others(32): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50707888 | |||||||
chr19:50707888 | TTTCTTTT others(26): Show |
T | 3 | a0002c0001t0002g0096 a0002c0001t0002g0213 a0002c0001t0007g0224 |
3 | HG01981.hp2 HG02735.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.1078-3407_1078-337 others(37): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50707888 | |||||||
chr19:50707891 | C | CTTTTCTT others(5): Show |
2 | a0001c0010t0001g0285 a0001c0010t0001g0286 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.1078-3389_1078-337 others(16): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50707891 | |||||||
chr19:50707909 | T | C | 2 | a0001c0003t0001g0061 a0001c0004t0010g0060 |
2 | HG01891.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.1078-3395A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50707909 | |||||||
chr19:50707921 | CTTTTCTT others(34): Show |
C | 1 | a0001c0003t0025g0013 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.1077+3409_1078-340 others(45): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50707921 | |||||||
chr19:50707931 | CTTTTCTT others(7): Show |
C | 1 | a0001c0002t0051g0027 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.1077+3426_1078-341 others(18): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50707931 | |||||||
chr19:50708107 | T | C | 232 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(229): Show |
234 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(231): Show |
intron_variant | MODIFIER | c.1077+3264A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50708107 | |||||||
chr19:50708167 | G | C | 1 | a0001c0002t0001g0119 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.1077+3204C>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50708167 | |||||||
chr19:50708187 | C | T | 1 | a0001c0007t0012g0079 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.1077+3184G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50708187 | |||||||
chr19:50708381 | T | C | 1 | a0002c0001t0009g0192 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.1077+2990A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50708381 | |||||||
chr19:50708409 | G | T | 2 | a0001c0002t0034g0003 a0001c0003t0003g0292 |
2 | HG00323.hp2 HG03490.hp1 |
intron_variant | MODIFIER | c.1077+2962C>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50708409 | |||||||
chr19:50708433 | C | T | 9 | a0001c0003t0004g0193 a0001c0003t0025g0013 a0001c0003t0075g0125 others(6): Show |
9 | HG01167.hp1 HG01169.hp1 HG01891.hp2 others(6): Show |
intron_variant | MODIFIER | c.1077+2938G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50708433 | |||||||
chr19:50708455 | G | A | 1 | a0001c0020t0008g0260 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1077+2916C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50708455 | |||||||
chr19:50708491 | C | G | 1 | a0002c0001t0049g0024 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.1077+2880G>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50708491 | |||||||
chr19:50708492 | C | T | 1 | a0001c0004t0011g0050 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.1077+2879G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50708492 | |||||||
chr19:50708533 | G | C | 2 | a0002c0008t0017g0210 a0002c0008t0097g0298 |
2 | NA18966.hp1 NA19084.hp2 |
intron_variant | MODIFIER | c.1077+2838C>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50708533 | |||||||
chr19:50708763 | C | A | 2 | a0001c0002t0018g0128 a0001c0003t0102g0303 |
2 | HG02258.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.1077+2608G>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50708763 | |||||||
chr19:50708940 | T | C | 1 | a0001c0003t0004g0193 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1077+2431A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50708940 | |||||||
chr19:50708991 | C | T | 2 | a0001c0002t0018g0128 a0001c0003t0102g0303 |
2 | HG02258.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.1077+2380G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50708991 | |||||||
chr19:50709081 | C | T | 1 | a0001c0004t0008g0051 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.1077+2290G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50709081 | |||||||
chr19:50709224 | C | T | 1 | a0001c0015t0001g0102 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.1077+2147G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50709224 | |||||||
chr19:50709252 | T | C | 311 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(308): Show |
313 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(310): Show |
intron_variant | MODIFIER | c.1077+2119A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50709252 | |||||||
chr19:50709295 | C | A | 3 | a0001c0003t0001g0061 a0001c0004t0010g0060 a0001c0016t0073g0071 |
3 | HG01884.hp1 HG01891.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.1077+2076G>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50709295 | |||||||
chr19:50709295 | C | T | 6 | a0001c0003t0007g0089 a0001c0003t0080g0143 a0001c0003t0111g0314 others(3): Show |
6 | HG01070.hp1 HG02896.hp1 HG03834.hp1 others(3): Show |
intron_variant | MODIFIER | c.1077+2076G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50709295 | |||||||
chr19:50709316 | C | T | 1 | a0001c0003t0007g0089 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1077+2055G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50709316 | |||||||
chr19:50709324 | G | C | 1 | a0016c0029t0001g0206 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.1077+2047C>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50709324 | |||||||
chr19:50709363 | A | G | 1 | a0001c0002t0001g0095 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1077+2008T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50709363 | |||||||
chr19:50709376 | A | C | 3 | a0001c0002t0001g0095 a0001c0003t0001g0061 a0001c0004t0010g0060 |
3 | HG01891.hp1 HG02280.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.1077+1995T>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50709376 | |||||||
chr19:50709384 | G | A | 4 | a0001c0002t0001g0095 a0001c0003t0004g0193 a0001c0003t0010g0284 others(1): Show |
4 | HG02280.hp2 HG02451.hp1 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.1077+1987C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50709384 | |||||||
chr19:50709420 | C | T | 1 | a0001c0004t0096g0297 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1077+1951G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50709420 | |||||||
chr19:50709437 | G | T | 3 | a0001c0003t0067g0045 a0001c0014t0087g0242 a0001c0038t0094g0287 |
3 | HG02145.hp1 HG03471.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.1077+1934C>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50709437 | |||||||
chr19:50709556 | A | G | 1 | a0001c0003t0004g0254 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.1077+1815T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50709556 | |||||||
chr19:50709814 | G | A | 6 | a0001c0002t0018g0128 a0001c0003t0004g0193 a0001c0003t0067g0045 others(3): Show |
6 | HG02145.hp1 HG02258.hp1 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.1077+1557C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50709814 | |||||||
chr19:50709840 | C | T | 5 | a0001c0003t0067g0045 a0001c0004t0011g0050 a0001c0038t0094g0287 others(2): Show |
5 | HG02145.hp1 HG02451.hp2 HG03486.hp1 others(2): Show |
intron_variant | MODIFIER | c.1077+1531G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50709840 | |||||||
chr19:50709887 | C | T | 1 | a0001c0002t0007g0269 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.1077+1484G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50709887 | |||||||
chr19:50709889 | G | C | 1 | a0001c0003t0004g0193 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1077+1482C>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50709889 | |||||||
chr19:50709910 | T | A | 1 | a0001c0002t0006g0141 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.1077+1461A>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50709910 | |||||||
chr19:50709975 | G | A | 10 | a0001c0003t0001g0061 a0001c0003t0025g0013 a0001c0003t0075g0125 others(7): Show |
10 | HG01167.hp1 HG01169.hp1 HG01891.hp1 others(7): Show |
intron_variant | MODIFIER | c.1077+1396C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50709975 | |||||||
chr19:50710052 | G | A | 1 | a0002c0001t0005g0194 | 1 | NA18962.hp2 | intron_variant | MODIFIER | c.1077+1319C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50710052 | |||||||
chr19:50710054 | G | A | 1 | a0002c0001t0001g0195 | 1 | HG02004.hp2 | intron_variant | MODIFIER | c.1077+1317C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50710054 | |||||||
chr19:50710158 | G | A | 5 | a0001c0002t0018g0128 a0001c0003t0067g0045 a0001c0003t0102g0303 others(2): Show |
5 | HG02145.hp1 HG02258.hp1 HG02451.hp2 others(2): Show |
intron_variant | MODIFIER | c.1077+1213C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50710158 | |||||||
chr19:50710428 | A | AC | 6 | a0001c0003t0036g0005 a0001c0007t0071g0049 a0001c0014t0008g0232 others(3): Show |
6 | HG00741.hp2 HG02486.hp1 HG02809.hp1 others(3): Show |
intron_variant | MODIFIER | c.1077+942dupG | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50710428 | |||||||
chr19:50710556 | A | G | 3 | a0001c0003t0076g0289 a0001c0003t0110g0313 a0002c0001t0008g0288 |
3 | HG02280.hp1 HG02717.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.1077+815T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50710556 | |||||||
chr19:50710586 | G | T | 1 | a0003c0005t0014g0222 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.1077+785C>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50710586 | |||||||
chr19:50710590 | C | T | 1 | a0001c0004t0011g0050 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.1077+781G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50710590 | |||||||
chr19:50710645 | G | T | 11 | a0001c0002t0001g0093 a0001c0002t0001g0120 a0001c0004t0001g0104 others(8): Show |
11 | HG00140.hp1 HG00639.hp1 HG00741.hp1 others(8): Show |
intron_variant | MODIFIER | c.1077+726C>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50710645 | |||||||
chr19:50710729 | C | A | 1 | a0001c0003t0075g0125 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1077+642G>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50710729 | |||||||
chr19:50710777 | GGCCTTTC others(33): Show |
G | 1 | a0001c0002t0001g0095 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1077+554_1077+593d others(42): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50710777 | |||||||
chr19:50710987 | C | T | 1 | a0001c0004t0026g0014 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.1077+384G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50710987 | |||||||
chr19:50711016 | C | A | 2 | a0001c0004t0096g0297 a0013c0034t0007g0252 |
2 | HG02896.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.1077+355G>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50711016 | |||||||
chr19:50711043 | A | G | 1 | a0002c0001t0049g0024 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.1077+328T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50711043 | |||||||
chr19:50711124 | C | T | 2 | a0001c0002t0001g0140 a0001c0002t0006g0141 |
2 | HG00642.hp1 HG01981.hp1 |
intron_variant | MODIFIER | c.1077+247G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50711124 | |||||||
chr19:50711157 | T | C | 2 | a0001c0004t0008g0051 a0001c0016t0073g0071 |
2 | HG01884.hp1 HG02109.hp1 |
intron_variant | MODIFIER | c.1077+214A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50711157 | |||||||
chr19:50711182 | T | TTGGA | 58 | a0001c0002t0001g0120 a0001c0002t0001g0251 a0001c0002t0006g0236 others(55): Show |
58 | HG00140.hp2 HG00733.hp1 HG00738.hp1 others(55): Show |
intron_variant | MODIFIER | c.1077+185_1077+188d others(6): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50711182 | |||||||
chr19:50711182 | T | TTGGATGG others(1): Show |
77 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0119 others(74): Show |
77 | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(74): Show |
intron_variant | MODIFIER | c.1077+181_1077+188d others(10): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50711182 | |||||||
chr19:50711182 | T | TTGGATGG others(5): Show |
2 | a0001c0002t0009g0196 a0001c0002t0037g0007 |
2 | HG03831.hp1 HG04204.hp1 |
intron_variant | MODIFIER | c.1077+177_1077+188d others(14): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50711182 | |||||||
chr19:50711182 | TTGGA | T | 12 | a0001c0002t0015g0139 a0001c0003t0023g0239 a0001c0003t0023g0240 others(9): Show |
12 | HG00673.hp2 HG02129.hp2 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.1077+185_1077+188d others(6): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50711182 | |||||||
chr19:50711269 | G | A | 1 | a0001c0003t0102g0303 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1077+102C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | 50711269 | |||||||
chr19:50711506 | G | A | 1 | a0015c0025t0004g0282 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.961-19C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 7/23 | chr19 | 50711506 | |||||||
chr19:50711541 | T | C | 16 | a0001c0002t0011g0087 a0001c0003t0004g0076 a0001c0003t0004g0081 others(13): Show |
16 | HG02145.hp2 HG02257.hp2 HG02258.hp2 others(13): Show |
intron_variant | MODIFIER | c.961-54A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 7/23 | chr19 | 50711541 | |||||||
chr19:50711694 | C | T | 1 | a0002c0001t0001g0138 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.961-207G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 7/23 | chr19 | 50711694 | |||||||
chr19:50711843 | A | G | 2 | a0001c0002t0034g0003 a0001c0003t0003g0292 |
2 | HG00323.hp2 HG03490.hp1 |
intron_variant | MODIFIER | c.960+104T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 7/23 | chr19 | 50711843 | |||||||
chr19:50712122 | C | T | 7 | a0001c0003t0023g0239 a0001c0003t0023g0240 a0001c0003t0067g0045 others(4): Show |
7 | HG02109.hp1 HG02145.hp1 HG02486.hp2 others(4): Show |
splice_region_variant&intron_variant | LOW | c.793-8G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 6/23 | chr19 | 50712122 | |||||||
chr19:50712172 | G | C | 2 | a0001c0003t0011g0052 a0001c0003t0012g0053 |
2 | HG03139.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.793-58C>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 6/23 | chr19 | 50712172 | |||||||
chr19:50712231 | C | T | 16 | a0001c0002t0011g0087 a0001c0003t0004g0076 a0001c0003t0004g0081 others(13): Show |
16 | HG02145.hp2 HG02257.hp2 HG02258.hp2 others(13): Show |
intron_variant | MODIFIER | c.793-117G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 6/23 | chr19 | 50712231 | |||||||
chr19:50712264 | C | A | 1 | a0001c0002t0001g0120 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.793-150G>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 6/23 | chr19 | 50712264 | |||||||
chr19:50712374 | T | C | 143 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0119 others(140): Show |
144 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(141): Show |
intron_variant | MODIFIER | c.793-260A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 6/23 | chr19 | 50712374 | |||||||
chr19:50712384 | G | A | 2 | a0001c0003t0010g0284 a0003c0006t0006g0283 |
2 | HG02451.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.793-270C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 6/23 | chr19 | 50712384 | |||||||
chr19:50712437 | T | C | 2 | a0001c0004t0096g0297 a0013c0034t0007g0252 |
2 | HG02896.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.793-323A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 6/23 | chr19 | 50712437 | |||||||
chr19:50712518 | G | T | 1 | a0002c0001t0004g0136 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.793-404C>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 6/23 | chr19 | 50712518 | |||||||
chr19:50712634 | C | T | 1 | a0001c0003t0074g0073 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.793-520G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 6/23 | chr19 | 50712634 | |||||||
chr19:50712645 | G | C | 2 | a0001c0002t0018g0128 a0001c0003t0102g0303 |
2 | HG02258.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.793-531C>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 6/23 | chr19 | 50712645 | |||||||
chr19:50712663 | A | C | 19 | a0001c0002t0011g0087 a0001c0003t0004g0076 a0001c0003t0004g0081 others(16): Show |
19 | HG02145.hp2 HG02257.hp2 HG02258.hp2 others(16): Show |
intron_variant | MODIFIER | c.793-549T>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 6/23 | chr19 | 50712663 | |||||||
chr19:50712720 | G | T | 1 | a0001c0038t0094g0287 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.793-606C>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 6/23 | chr19 | 50712720 | |||||||
chr19:50712751 | G | A | 1 | a0001c0003t0012g0053 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.793-637C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 6/23 | chr19 | 50712751 | |||||||
chr19:50712859 | T | G | 1 | a0001c0003t0035g0004 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.793-745A>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 6/23 | chr19 | 50712859 | |||||||
chr19:50713164 | G | A | 4 | a0001c0003t0074g0073 a0001c0003t0076g0289 a0001c0003t0110g0313 others(1): Show |
4 | HG01243.hp2 HG02280.hp1 HG02717.hp1 others(1): Show |
intron_variant | MODIFIER | c.792+634C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 6/23 | chr19 | 50713164 | |||||||
chr19:50713192 | A | G | 1 | a0001c0002t0105g0304 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.792+606T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 6/23 | chr19 | 50713192 | |||||||
chr19:50713405 | C | CTGTTTTC others(33): Show |
1 | a0001c0002t0001g0095 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.792+353_792+392dup others(40): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 6/23 | chr19 | 50713405 | |||||||
chr19:50713429 | G | A | 2 | a0001c0010t0001g0285 a0001c0010t0001g0286 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.792+369C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 6/23 | chr19 | 50713429 | |||||||
chr19:50713441 | G | C | 1 | a0001c0016t0073g0071 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.792+357C>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 6/23 | chr19 | 50713441 | |||||||
chr19:50713546 | C | T | 1 | a0001c0038t0094g0287 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.792+252G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 6/23 | chr19 | 50713546 | |||||||
chr19:50713652 | T | G | 137 | a0001c0002t0001g0095 a0001c0002t0001g0097 a0001c0002t0001g0119 others(134): Show |
138 | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(135): Show |
intron_variant | MODIFIER | c.792+146A>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 6/23 | chr19 | 50713652 | |||||||
chr19:50713759 | G | A | 1 | a0001c0003t0010g0078 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.792+39C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 6/23 | chr19 | 50713759 | |||||||
chr19:50714148 | C | T | 3 | a0001c0003t0076g0289 a0001c0003t0110g0313 a0002c0001t0008g0288 |
3 | HG02280.hp1 HG02717.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.640+34G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 5/23 | chr19 | 50714148 | |||||||
chr19:50714293 | G | A | 119 | a0001c0002t0001g0097 a0001c0002t0001g0119 a0001c0002t0001g0120 others(116): Show |
120 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(117): Show |
splice_region_variant&intron_variant | LOW | c.532-3C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 4/23 | chr19 | 50714293 | |||||||
chr19:50714382 | C | T | 3 | a0001c0003t0011g0052 a0001c0003t0012g0053 a0001c0003t0074g0073 |
3 | HG01243.hp2 HG03139.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.532-92G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 4/23 | chr19 | 50714382 | |||||||
chr19:50714473 | C | T | 24 | a0001c0002t0011g0087 a0001c0002t0030g0133 a0001c0003t0004g0076 others(21): Show |
24 | HG02109.hp1 HG02145.hp2 HG02257.hp2 others(21): Show |
intron_variant | MODIFIER | c.532-183G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 4/23 | chr19 | 50714473 | |||||||
chr19:50714690 | C | CA | 137 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(134): Show |
138 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(135): Show |
intron_variant | MODIFIER | c.532-401dupT | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 4/23 | chr19 | 50714690 | |||||||
chr19:50714690 | C | CAA | 10 | a0001c0002t0041g0017 a0001c0002t0050g0028 a0001c0004t0028g0234 others(7): Show |
10 | HG01192.hp1 HG01884.hp1 HG02738.hp2 others(7): Show |
intron_variant | MODIFIER | c.532-402_532-401dup others(2): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 4/23 | chr19 | 50714690 | |||||||
chr19:50714690 | CA | C | 28 | a0001c0002t0011g0087 a0001c0002t0012g0135 a0001c0002t0030g0133 others(25): Show |
28 | HG01167.hp2 HG01515.hp1 HG01993.hp2 others(25): Show |
intron_variant | MODIFIER | c.532-401delT | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 4/23 | chr19 | 50714690 | |||||||
chr19:50714692 | A | C | 2 | a0001c0002t0009g0132 a0001c0002t0085g0131 |
2 | HG03491.hp2 HG03492.hp2 |
intron_variant | MODIFIER | c.532-402T>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 4/23 | chr19 | 50714692 | |||||||
chr19:50714979 | T | A | 1 | a0012c0031t0029g0130 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.531+680A>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 4/23 | chr19 | 50714979 | |||||||
chr19:50715051 | G | C | 1 | a0001c0003t0003g0253 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.531+608C>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 4/23 | chr19 | 50715051 | |||||||
chr19:50715207 | G | A | 9 | a0001c0002t0018g0128 a0001c0003t0025g0013 a0001c0003t0075g0125 others(6): Show |
9 | HG01167.hp1 HG01169.hp1 HG01891.hp2 others(6): Show |
intron_variant | MODIFIER | c.531+452C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 4/23 | chr19 | 50715207 | |||||||
chr19:50715228 | C | T | 4 | a0001c0003t0004g0076 a0001c0003t0007g0075 a0001c0003t0010g0078 others(1): Show |
4 | HG02145.hp2 HG02572.hp1 HG02965.hp2 others(1): Show |
intron_variant | MODIFIER | c.531+431G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 4/23 | chr19 | 50715228 | |||||||
chr19:50715544 | G | A | 1 | a0001c0003t0102g0303 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.531+115C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 4/23 | chr19 | 50715544 | |||||||
chr19:50715583 | G | A | 2 | a0001c0003t0025g0009 a0001c0016t0073g0071 |
2 | HG01884.hp1 HG02109.hp2 |
intron_variant | MODIFIER | c.531+76C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 4/23 | chr19 | 50715583 | |||||||
chr19:50715795 | G | A | 1 | a0002c0001t0049g0024 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.460-65C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 3/23 | chr19 | 50715795 | |||||||
chr19:50715800 | G | A | 32 | a0001c0002t0001g0251 a0001c0002t0006g0236 a0001c0002t0006g0238 others(29): Show |
32 | HG00733.hp1 HG00735.hp1 HG01070.hp1 others(29): Show |
intron_variant | MODIFIER | c.460-70C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 3/23 | chr19 | 50715800 | |||||||
chr19:50715822 | C | T | 1 | a0002c0001t0002g0293 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.460-92G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 3/23 | chr19 | 50715822 | |||||||
chr19:50715823 | T | C | 1 | a0002c0001t0002g0293 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.460-93A>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 3/23 | chr19 | 50715823 | |||||||
chr19:50715834 | C | CG | 24 | a0001c0002t0011g0087 a0001c0003t0004g0076 a0001c0003t0004g0081 others(21): Show |
24 | HG01243.hp2 HG02145.hp2 HG02257.hp2 others(21): Show |
intron_variant | MODIFIER | c.460-105dupC | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 3/23 | chr19 | 50715834 | |||||||
chr19:50715911 | G | A | 1 | a0001c0003t0004g0254 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.460-181C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 3/23 | chr19 | 50715911 | |||||||
chr19:50716079 | C | G | 23 | a0001c0002t0011g0087 a0001c0003t0004g0076 a0001c0003t0004g0081 others(20): Show |
23 | HG02145.hp2 HG02257.hp2 HG02258.hp2 others(20): Show |
intron_variant | MODIFIER | c.459+196G>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 3/23 | chr19 | 50716079 | |||||||
chr19:50717188 | C | T | 9 | a0001c0002t0018g0128 a0001c0003t0025g0013 a0001c0003t0075g0125 others(6): Show |
9 | HG01167.hp1 HG01169.hp1 HG01891.hp2 others(6): Show |
intron_variant | MODIFIER | c.-43-226G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 1/23 | chr19 | 50717188 | |||||||
chr19:50717520 | A | G | 3 | a0001c0003t0011g0052 a0001c0003t0012g0053 a0001c0003t0074g0073 |
3 | HG01243.hp2 HG03139.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.-43-558T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 1/23 | chr19 | 50717520 | |||||||
chr19:50717558 | C | T | 1 | a0001c0013t0024g0123 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.-43-596G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 1/23 | chr19 | 50717558 | |||||||
chr19:50717559 | G | A | 2 | a0001c0002t0050g0028 a0002c0001t0013g0256 |
2 | HG02738.hp2 NA19074.hp2 |
intron_variant | MODIFIER | c.-43-597C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 1/23 | chr19 | 50717559 | |||||||
chr19:50717630 | G | A | 4 | a0001c0002t0002g0259 a0001c0002t0005g0257 a0001c0002t0005g0258 others(1): Show |
4 | HG00544.hp1 HG02071.hp1 HG02129.hp1 others(1): Show |
intron_variant | MODIFIER | c.-43-668C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 1/23 | chr19 | 50717630 | |||||||
chr19:50717680 | C | T | 47 | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(44): Show |
47 | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(44): Show |
intron_variant | MODIFIER | c.-43-718G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 1/23 | chr19 | 50717680 | |||||||
chr19:50717739 | C | A | 60 | a0001c0002t0001g0261 a0001c0002t0003g0277 a0001c0002t0006g0275 others(57): Show |
60 | HG00323.hp1 HG01192.hp2 HG01243.hp2 others(57): Show |
intron_variant | MODIFIER | c.-43-777G>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 1/23 | chr19 | 50717739 | |||||||
chr19:50718041 | C | G | 1 | a0002c0001t0002g0290 | 1 | NA18950.hp2 | intron_variant | MODIFIER | c.-43-1079G>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 1/23 | chr19 | 50718041 | |||||||
chr19:50718043 | A | C | 51 | a0001c0002t0003g0058 a0001c0002t0003g0062 a0001c0002t0011g0087 others(48): Show |
51 | HG01074.hp1 HG01106.hp1 HG01167.hp2 others(48): Show |
intron_variant | MODIFIER | c.-43-1081T>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 1/23 | chr19 | 50718043 | |||||||
chr19:50718230 | C | A | 3 | a0001c0003t0076g0289 a0001c0003t0110g0313 a0002c0001t0008g0288 |
3 | HG02280.hp1 HG02717.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.-44+1176G>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 1/23 | chr19 | 50718230 | |||||||
chr19:50718546 | G | C | 1 | a0002c0001t0002g0293 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.-44+860C>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 1/23 | chr19 | 50718546 | |||||||
chr19:50718548 | G | C | 1 | a0002c0001t0002g0293 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.-44+858C>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 1/23 | chr19 | 50718548 | |||||||
chr19:50718549 | C | G | 1 | a0002c0001t0002g0293 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.-44+857G>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 1/23 | chr19 | 50718549 | |||||||
chr19:50718743 | G | A | 1 | a0002c0001t0002g0293 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.-44+663C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 1/23 | chr19 | 50718743 | |||||||
chr19:50718744 | A | G | 1 | a0002c0001t0002g0293 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.-44+662T>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 1/23 | chr19 | 50718744 | |||||||
chr19:50718791 | G | A | 2 | a0002c0001t0002g0290 a0002c0001t0002g0291 |
2 | NA18950.hp2 NA18983.hp2 |
intron_variant | MODIFIER | c.-44+615C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 1/23 | chr19 | 50718791 | |||||||
chr19:50718823 | C | G | 2 | a0001c0004t0008g0051 a0001c0004t0011g0050 |
2 | HG02109.hp1 HG02451.hp2 |
intron_variant | MODIFIER | c.-44+583G>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 1/23 | chr19 | 50718823 | |||||||
chr19:50718991 | G | T | 2 | a0001c0003t0011g0052 a0001c0003t0012g0053 |
2 | HG03139.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.-44+415C>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 1/23 | chr19 | 50718991 | |||||||
chr19:50719036 | G | A | 3 | a0001c0002t0034g0003 a0001c0003t0003g0292 a0002c0001t0047g0025 |
3 | HG00323.hp2 HG01358.hp1 HG03490.hp1 |
intron_variant | MODIFIER | c.-44+370C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 1/23 | chr19 | 50719036 | |||||||
chr19:50719037 | C | T | 3 | a0001c0002t0034g0003 a0001c0003t0003g0292 a0002c0001t0047g0025 |
3 | HG00323.hp2 HG01358.hp1 HG03490.hp1 |
intron_variant | MODIFIER | c.-44+369G>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 1/23 | chr19 | 50719037 | |||||||
chr19:50719039 | G | A | 3 | a0001c0002t0034g0003 a0001c0003t0003g0292 a0002c0001t0047g0025 |
3 | HG00323.hp2 HG01358.hp1 HG03490.hp1 |
intron_variant | MODIFIER | c.-44+367C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 1/23 | chr19 | 50719039 | |||||||
chr19:50719091 | C | G | 1 | a0002c0001t0002g0293 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.-44+315G>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 1/23 | chr19 | 50719091 | |||||||
chr19:50719093 | G | C | 1 | a0002c0001t0002g0293 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.-44+313C>G | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 1/23 | chr19 | 50719093 | |||||||
chr19:50719161 | T | G | 7 | a0001c0002t0002g0294 a0001c0002t0021g0021 a0002c0001t0002g0296 others(4): Show |
7 | HG00423.hp2 HG00597.hp2 HG02071.hp2 others(4): Show |
intron_variant | MODIFIER | c.-44+245A>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 1/23 | chr19 | 50719161 | |||||||
chr19:50719174 | T | G | 1 | a0001c0016t0064g0042 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.-44+232A>C | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 1/23 | chr19 | 50719174 | |||||||
chr19:50719233 | G | T | 2 | a0001c0004t0008g0051 a0001c0004t0011g0050 |
2 | HG02109.hp1 HG02451.hp2 |
intron_variant | MODIFIER | c.-44+173C>A | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 1/23 | chr19 | 50719233 | |||||||
chr19:50719336 | G | A | 1 | a0001c0002t0050g0028 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.-44+70C>T | SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 1/23 | chr19 | 50719336 |