Item | Value |
---|---|
geneid | 9517 |
ensemblid | ENSG00000100596.8 |
hgncid | 11278 |
symbol | SPTLC2 |
name | serine palmitoyltransferase long chain base subunit 2 |
refseq_nuc | NM_004863.4 |
refseq_prot | NP_004854.1 |
ensembl_nuc | ENST00000216484.7 |
ensembl_prot | ENSP00000216484.2 |
mane_status | MANE Select |
chr | chr14 |
start | 77505997 |
end | 77616637 |
strand | - |
ver | v1.2 |
region | chr14:77505997-77616637 |
region5000 | chr14:77500997-77621637 |
regionname0 | SPTLC2_chr14_77505997_77616637 |
regionname5000 | SPTLC2_chr14_77500997_77621637 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 1/1 | 562 | 245 | 85 | 60 | 54 | 16 | 28 | 34 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | MRPEP others(557): Show |
chr14 | 77500997 | 77621637 |
a0002 | 0/0 | 562 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | MRPEP others(557): Show |
chr14 | 77500997 | 77621637 |
achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 0/1 | 1686 | 178 | 32 | 49 | 54 | 16 | 26 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | ATGCG others(1681): Show |
chr14 | 77500997 | 77621637 | ||
a0001c0002 | 1/0 | 1686 | 47 | 34 | 10 | 0 | 0 | 2 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | ATGCG others(1681): Show |
chr14 | 77500997 | 77621637 | ||
a0001c0003 | 0/0 | 1686 | 6 | 6 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | ATGCG others(1681): Show |
chr14 | 77500997 | 77621637 | ||
a0001c0004 | 0/0 | 1686 | 4 | 4 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | ATGCG others(1681): Show |
chr14 | 77500997 | 77621637 | ||
a0001c0005 | 0/0 | 1686 | 3 | 3 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | ATGCG others(1681): Show |
chr14 | 77500997 | 77621637 | ||
a0001c0006 | 0/0 | 1686 | 3 | 3 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | ATGCG others(1681): Show |
chr14 | 77500997 | 77621637 | ||
a0001c0008 | 0/0 | 1686 | 1 | 0 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | ATGCG others(1681): Show |
chr14 | 77500997 | 77621637 | ||
a0001c0009 | 0/0 | 1686 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | ATGCG others(1681): Show |
chr14 | 77500997 | 77621637 | ||
a0001c0010 | 0/0 | 1686 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | ATGCG others(1681): Show |
chr14 | 77500997 | 77621637 | ||
a0001c0011 | 0/0 | 1686 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | ATGCG others(1681): Show |
chr14 | 77500997 | 77621637 | ||
a0002c0007 | 0/0 | 1686 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | ATGCG others(1681): Show |
chr14 | 77500997 | 77621637 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 0/1 | 8036 | 99 | 9 | 29 | 41 | 8 | 11 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | AGCCG others(8031): Show |
chr14 | 77500997 | 77621637 |
a0001c0001t0002 | 0/0 | 8034 | 2 | 2 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | AGCCG others(8029): Show |
chr14 | 77500997 | 77621637 |
a0001c0001t0003 | 0/0 | 8036 | 15 | 7 | 4 | 0 | 2 | 2 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | AGCCG others(8031): Show |
chr14 | 77500997 | 77621637 |
a0001c0001t0004 | 0/0 | 8035 | 8 | 2 | 4 | 0 | 1 | 1 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | AGCCG others(8030): Show |
chr14 | 77500997 | 77621637 |
a0001c0001t0005 | 0/0 | 8034 | 10 | 3 | 2 | 0 | 1 | 4 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | AGCCG others(8029): Show |
chr14 | 77500997 | 77621637 |
a0001c0001t0006 | 0/0 | 8032 | 2 | 0 | 1 | 0 | 0 | 1 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | AGCCG others(8027): Show |
chr14 | 77500997 | 77621637 |
a0001c0001t0008 | 0/0 | 8032 | 5 | 0 | 0 | 4 | 1 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | AGCCG others(8027): Show |
chr14 | 77500997 | 77621637 |
a0001c0001t0009 | 0/0 | 8037 | 3 | 0 | 0 | 3 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | AGCCG others(8032): Show |
chr14 | 77500997 | 77621637 |
a0001c0001t0011 | 0/0 | 8032 | 2 | 0 | 2 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | AGCCG others(8027): Show |
chr14 | 77500997 | 77621637 |
a0001c0001t0012 | 0/0 | 8036 | 2 | 0 | 0 | 0 | 0 | 2 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | AGCCG others(8031): Show |
chr14 | 77500997 | 77621637 |
a0001c0001t0013 | 0/0 | 8036 | 2 | 1 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | AGCCG others(8031): Show |
chr14 | 77500997 | 77621637 |
a0001c0001t0014 | 0/0 | 8036 | 2 | 0 | 2 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | AGCCG others(8031): Show |
chr14 | 77500997 | 77621637 |
a0001c0001t0015 | 0/0 | 8036 | 2 | 0 | 0 | 2 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | AGCCG others(8031): Show |
chr14 | 77500997 | 77621637 |
a0001c0001t0016 | 0/0 | 8036 | 2 | 0 | 1 | 0 | 1 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | AGCCG others(8031): Show |
chr14 | 77500997 | 77621637 |
a0001c0001t0019 | 0/0 | 8036 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | AGCCG others(8031): Show |
chr14 | 77500997 | 77621637 |
a0001c0001t0021 | 0/0 | 8034 | 1 | 0 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | AGCCG others(8029): Show |
chr14 | 77500997 | 77621637 |
a0001c0001t0024 | 0/0 | 8034 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | AGCCG others(8029): Show |
chr14 | 77500997 | 77621637 |
a0001c0001t0025 | 0/0 | 8036 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | AGCCG others(8031): Show |
chr14 | 77500997 | 77621637 |
a0001c0001t0026 | 0/0 | 8037 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | AGCCG others(8032): Show |
chr14 | 77500997 | 77621637 |
a0001c0001t0027 | 0/0 | 8036 | 1 | 0 | 0 | 0 | 1 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | AGCCG others(8031): Show |
chr14 | 77500997 | 77621637 |
a0001c0001t0030 | 0/0 | 8034 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | AGCCG others(8029): Show |
chr14 | 77500997 | 77621637 |
a0001c0001t0031 | 0/0 | 8036 | 1 | 0 | 0 | 1 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | AGCCG others(8031): Show |
chr14 | 77500997 | 77621637 |
a0001c0001t0032 | 0/0 | 8036 | 1 | 0 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | AGCCG others(8031): Show |
chr14 | 77500997 | 77621637 |
a0001c0001t0034 | 0/0 | 8036 | 1 | 0 | 0 | 1 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | AGCCG others(8031): Show |
chr14 | 77500997 | 77621637 |
a0001c0001t0035 | 0/0 | 8036 | 1 | 0 | 0 | 1 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | AGCCG others(8031): Show |
chr14 | 77500997 | 77621637 |
a0001c0001t0036 | 0/0 | 8036 | 1 | 0 | 0 | 0 | 0 | 1 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | AGCCG others(8031): Show |
chr14 | 77500997 | 77621637 |
a0001c0001t0039 | 0/0 | 8034 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | AGCCG others(8029): Show |
chr14 | 77500997 | 77621637 |
a0001c0001t0040 | 0/0 | 8034 | 1 | 0 | 0 | 0 | 1 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | AGCCG others(8029): Show |
chr14 | 77500997 | 77621637 |
a0001c0001t0043 | 0/0 | 8036 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | AGCCG others(8031): Show |
chr14 | 77500997 | 77621637 |
a0001c0001t0044 | 0/0 | 8036 | 1 | 0 | 0 | 0 | 0 | 1 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | AGCCG others(8031): Show |
chr14 | 77500997 | 77621637 |
a0001c0001t0045 | 0/0 | 8036 | 1 | 0 | 0 | 1 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | AGCCG others(8031): Show |
chr14 | 77500997 | 77621637 |
a0001c0001t0046 | 0/0 | 8035 | 1 | 0 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | AGCCG others(8030): Show |
chr14 | 77500997 | 77621637 |
a0001c0001t0047 | 0/0 | 8036 | 1 | 0 | 0 | 0 | 0 | 1 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | AGCCG others(8031): Show |
chr14 | 77500997 | 77621637 |
a0001c0001t0048 | 0/0 | 8036 | 1 | 0 | 0 | 0 | 0 | 1 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | AGCCG others(8031): Show |
chr14 | 77500997 | 77621637 |
a0001c0001t0049 | 0/0 | 8036 | 1 | 0 | 0 | 0 | 0 | 1 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | AGCCG others(8031): Show |
chr14 | 77500997 | 77621637 |
a0001c0001t0050 | 0/0 | 8034 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | AGCCG others(8029): Show |
chr14 | 77500997 | 77621637 |
a0001c0002t0001 | 0/0 | 8036 | 1 | 0 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | AGCCG others(8031): Show |
chr14 | 77500997 | 77621637 |
a0001c0002t0002 | 1/0 | 8034 | 17 | 15 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | AGCCG others(8029): Show |
chr14 | 77500997 | 77621637 |
a0001c0002t0003 | 0/0 | 8036 | 2 | 0 | 2 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | AGCCG others(8031): Show |
chr14 | 77500997 | 77621637 |
a0001c0002t0005 | 0/0 | 8034 | 4 | 4 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | AGCCG others(8029): Show |
chr14 | 77500997 | 77621637 |
a0001c0002t0006 | 0/0 | 8032 | 9 | 1 | 6 | 0 | 0 | 2 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | AGCCG others(8027): Show |
chr14 | 77500997 | 77621637 |
a0001c0002t0007 | 0/0 | 8039 | 6 | 6 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | AGCCG others(8034): Show |
chr14 | 77500997 | 77621637 |
a0001c0002t0010 | 0/0 | 8035 | 2 | 2 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | AGCCG others(8030): Show |
chr14 | 77500997 | 77621637 |
a0001c0002t0017 | 0/0 | 8039 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | AGCCG others(8034): Show |
chr14 | 77500997 | 77621637 |
a0001c0002t0019 | 0/0 | 8036 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | AGCCG others(8031): Show |
chr14 | 77500997 | 77621637 |
a0001c0002t0020 | 0/0 | 8034 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | AGCCG others(8029): Show |
chr14 | 77500997 | 77621637 |
a0001c0002t0028 | 0/0 | 8034 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | AGCCG others(8029): Show |
chr14 | 77500997 | 77621637 |
a0001c0002t0029 | 0/0 | 8035 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | AGCCG others(8030): Show |
chr14 | 77500997 | 77621637 |
a0001c0002t0051 | 0/0 | 8034 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | AGCCG others(8029): Show |
chr14 | 77500997 | 77621637 |
a0001c0003t0001 | 0/0 | 8036 | 4 | 4 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | AGCCG others(8031): Show |
chr14 | 77500997 | 77621637 |
a0001c0003t0017 | 0/0 | 8039 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | AGCCG others(8034): Show |
chr14 | 77500997 | 77621637 |
a0001c0003t0023 | 0/0 | 8037 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | AGCCG others(8032): Show |
chr14 | 77500997 | 77621637 |
a0001c0004t0004 | 0/0 | 8035 | 4 | 4 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | AGCCG others(8030): Show |
chr14 | 77500997 | 77621637 |
a0001c0005t0007 | 0/0 | 8039 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | AGCCG others(8034): Show |
chr14 | 77500997 | 77621637 |
a0001c0005t0037 | 0/0 | 8035 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | AGCCG others(8030): Show |
chr14 | 77500997 | 77621637 |
a0001c0005t0038 | 0/0 | 8034 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | AGCCG others(8029): Show |
chr14 | 77500997 | 77621637 |
a0001c0006t0018 | 0/0 | 8034 | 2 | 2 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | AGCCG others(8029): Show |
chr14 | 77500997 | 77621637 |
a0001c0006t0022 | 0/0 | 8034 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | AGCCG others(8029): Show |
chr14 | 77500997 | 77621637 |
a0001c0008t0033 | 0/0 | 8034 | 1 | 0 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | AGCCG others(8029): Show |
chr14 | 77500997 | 77621637 |
a0001c0009t0004 | 0/0 | 8035 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | AGCCG others(8030): Show |
chr14 | 77500997 | 77621637 |
a0001c0010t0004 | 0/0 | 8035 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | AGCCG others(8030): Show |
chr14 | 77500997 | 77621637 |
a0001c0011t0041 | 0/0 | 8034 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | AGCCG others(8029): Show |
chr14 | 77500997 | 77621637 |
a0002c0007t0042 | 0/0 | 8034 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | AGCCG others(8029): Show |
chr14 | 77500997 | 77621637 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0001 | 0/0 | 2 | 0 | 0 | 0 | 2 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0009 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0010 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0020 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0022 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0023 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0031 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0033 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0034 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0035 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0036 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0037 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0038 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0039 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0046 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0048 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0051 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0054 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0056 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0058 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0059 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0060 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0067 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0069 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0072 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0077 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0088 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0107 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0115 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0133 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0134 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0137 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0139 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0140 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0144 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0145 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0148 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0151 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0152 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0156 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0161 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0162 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0165 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0166 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0168 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0169 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0171 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0176 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0177 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0193 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0206 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0207 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0208 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0209 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0211 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0215 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0216 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0217 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0001g0229 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0002g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0002g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0003g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0003g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0003g0064 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0003g0116 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0003g0117 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0003g0121 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0003g0143 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0003g0167 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0003g0184 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0003g0185 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0003g0189 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0003g0218 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0003g0219 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0003g0221 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0003g0226 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0004g0005 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0004g0006 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0004g0007 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0004g0008 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0004g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0004g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0004g0110 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0004g0228 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0005g0045 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0005g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0005g0127 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0005g0175 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0005g0178 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0005g0179 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0005g0180 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0005g0181 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0005g0182 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0005g0223 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0006g0053 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0006g0154 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0008g0118 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0008g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0008g0125 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0008g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0008g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0009g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0009g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0009g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0011g0105 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0011g0106 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0012g0225 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0012g0227 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0013g0027 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0013g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0014g0099 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0014g0131 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0015g0130 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0015g0149 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0016g0068 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0016g0136 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0019g0245 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0021g0003 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0024g0220 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0025g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0026g0159 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0027g0135 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0030g0160 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0031g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0032g0205 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0034g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0035g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0036g0083 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0039g0100 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0040g0222 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0043g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0044g0047 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0045g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0046g0233 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0047g0231 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0048g0234 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0049g0232 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0001t0050g0237 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0002t0001g0103 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0002t0002g0025 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0002t0002g0192 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0002t0002g0194 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0002t0002g0195 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0002t0002g0196 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0002t0002g0197 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0002t0002g0198 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0002t0002g0199 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0002t0002g0200 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0002t0002g0201 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0002t0002g0202 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0002t0002g0203 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0002t0002g0204 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0002t0002g0210 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0002t0002g0212 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0002t0002g0213 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0002t0002g0224 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0002t0003g0032 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0002t0003g0061 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0002t0005g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0002t0005g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0002t0005g0187 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0002t0005g0188 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0002t0006g0104 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0002t0006g0108 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0002t0006g0109 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0002t0006g0111 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0002t0006g0112 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0002t0006g0113 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0002t0006g0114 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0002t0006g0123 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0002t0006g0153 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0002t0007g0236 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0002t0007g0238 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0002t0007g0239 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0002t0007g0240 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0002t0007g0241 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0002t0007g0243 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0002t0010g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0002t0010g0066 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0002t0017g0214 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0002t0019g0235 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0002t0020g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0002t0028g0173 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0002t0029g0186 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0002t0051g0244 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0003t0001g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0003t0001g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0003t0001g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0003t0001g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0003t0017g0063 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0003t0023g0132 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0004t0004g0141 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0004t0004g0142 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0004t0004g0183 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0004t0004g0190 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0005t0007g0242 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0005t0037g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0005t0038g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0006t0018g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0006t0018g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0006t0022g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0008t0033g0049 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0009t0004g0062 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0010t0004g0230 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0001c0011t0041g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
a0002c0007t0042g0128 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00099 | hp1 | a0001 | c0001 | t0005 | g0182 | EUR | GBR | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG00099 | hp2 | a0001 | c0001 | t0001 | g0144 | EUR | GBR | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG00280 | hp1 | a0001 | c0001 | t0001 | g0067 | EUR | FIN | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG00280 | hp2 | a0001 | c0001 | t0001 | g0216 | EUR | FIN | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG00323 | hp1 | a0001 | c0001 | t0001 | g0208 | EUR | FIN | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG00323 | hp2 | a0001 | c0001 | t0004 | g0110 | EUR | FIN | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG00408 | hp1 | a0001 | c0001 | t0001 | g0120 | EAS | CHS | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG00408 | hp2 | a0001 | c0001 | t0001 | g0137 | EAS | CHS | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG00438 | hp1 | a0001 | c0001 | t0001 | g0030 | EAS | CHS | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG00438 | hp2 | a0001 | c0001 | t0001 | g0086 | EAS | CHS | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG00558 | hp1 | a0001 | c0001 | t0001 | g0157 | EAS | CHS | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG00558 | hp2 | a0001 | c0001 | t0001 | g0093 | EAS | CHS | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG00621 | hp1 | a0001 | c0001 | t0001 | g0101 | EAS | CHS | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG00621 | hp2 | a0001 | c0001 | t0001 | g0089 | EAS | CHS | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG00642 | hp1 | a0001 | c0001 | t0001 | g0054 | AMR | PUR | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG00642 | hp2 | a0001 | c0001 | t0011 | g0106 | AMR | PUR | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG00733 | hp1 | a0001 | c0001 | t0001 | g0217 | AMR | PUR | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG00733 | hp2 | a0001 | c0001 | t0001 | g0165 | AMR | PUR | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG00735 | hp1 | a0001 | c0001 | t0001 | g0009 | AMR | PUR | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG00735 | hp2 | a0001 | c0001 | t0011 | g0105 | AMR | PUR | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG00738 | hp1 | a0001 | c0001 | t0001 | g0010 | AMR | PUR | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG00738 | hp2 | a0001 | c0001 | t0001 | g0207 | AMR | PUR | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG00741 | hp1 | a0001 | c0002 | t0006 | g0108 | AMR | PUR | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG00741 | hp2 | a0001 | c0001 | t0001 | g0215 | AMR | PUR | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG01069 | hp1 | a0001 | c0001 | t0004 | g0005 | AMR | PUR | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG01069 | hp2 | a0001 | c0001 | t0001 | g0139 | AMR | PUR | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG01071 | hp1 | a0001 | c0001 | t0001 | g0036 | AMR | PUR | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG01071 | hp2 | a0001 | c0001 | t0004 | g0006 | AMR | PUR | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG01081 | hp1 | a0001 | c0001 | t0001 | g0162 | AMR | PUR | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG01081 | hp2 | a0001 | c0001 | t0021 | g0003 | AMR | PUR | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG01099 | hp1 | a0001 | c0001 | t0001 | g0060 | AMR | PUR | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG01099 | hp2 | a0001 | c0001 | t0003 | g0143 | AMR | PUR | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG01106 | hp1 | a0001 | c0001 | t0014 | g0099 | AMR | PUR | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG01106 | hp2 | a0001 | c0001 | t0001 | g0161 | AMR | PUR | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG01109 | hp1 | a0001 | c0001 | t0013 | g0027 | AMR | PUR | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG01109 | hp2 | a0001 | c0001 | t0001 | g0209 | AMR | PUR | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG01167 | hp1 | a0001 | c0001 | t0001 | g0193 | AMR | PUR | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG01167 | hp2 | a0001 | c0001 | t0005 | g0175 | AMR | PUR | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG01168 | hp1 | a0001 | c0001 | t0032 | g0205 | AMR | PUR | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG01168 | hp2 | a0001 | c0001 | t0003 | g0221 | AMR | PUR | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG01243 | hp1 | a0001 | c0002 | t0002 | g0025 | AMR | PUR | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG01243 | hp2 | a0001 | c0001 | t0016 | g0136 | AMR | PUR | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG01255 | hp1 | a0001 | c0001 | t0001 | g0038 | AMR | CLM | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG01255 | hp2 | a0001 | c0002 | t0006 | g0104 | AMR | CLM | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG01256 | hp1 | a0001 | c0001 | t0001 | g0034 | AMR | CLM | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG01256 | hp2 | a0001 | c0001 | t0004 | g0007 | AMR | CLM | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG01257 | hp1 | a0001 | c0002 | t0006 | g0113 | AMR | CLM | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG01257 | hp2 | a0001 | c0001 | t0003 | g0116 | AMR | CLM | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG01258 | hp1 | a0001 | c0001 | t0004 | g0008 | AMR | CLM | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG01258 | hp2 | a0001 | c0001 | t0003 | g0117 | AMR | CLM | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG01346 | hp1 | a0001 | c0001 | t0001 | g0069 | AMR | CLM | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG01346 | hp2 | a0001 | c0001 | t0001 | g0037 | AMR | CLM | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG01358 | hp1 | a0001 | c0002 | t0003 | g0061 | AMR | CLM | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG01358 | hp2 | a0001 | c0001 | t0046 | g0233 | AMR | CLM | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG01496 | hp1 | a0001 | c0001 | t0001 | g0211 | AMR | CLM | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG01496 | hp2 | a0001 | c0001 | t0014 | g0131 | AMR | CLM | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG01515 | hp1 | a0001 | c0001 | t0001 | g0001 | EUR | IBS | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG01515 | hp2 | a0001 | c0001 | t0003 | g0219 | EUR | IBS | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG01516 | hp1 | a0001 | c0001 | t0016 | g0068 | EUR | IBS | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG01516 | hp2 | a0001 | c0001 | t0001 | g0039 | EUR | IBS | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG01517 | hp1 | a0001 | c0001 | t0001 | g0001 | EUR | IBS | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG01517 | hp2 | a0001 | c0001 | t0003 | g0218 | EUR | IBS | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG01884 | hp1 | a0001 | c0001 | t0004 | g0029 | AFR | ACB | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG01884 | hp2 | a0001 | c0001 | t0005 | g0127 | AFR | ACB | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG01891 | hp1 | a0001 | c0002 | t0010 | g0066 | AFR | ACB | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG01891 | hp2 | a0001 | c0002 | t0002 | g0210 | AFR | ACB | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG01928 | hp1 | a0001 | c0001 | t0001 | g0145 | AMR | PEL | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG01928 | hp2 | a0001 | c0001 | t0001 | g0022 | AMR | PEL | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG01934 | hp1 | a0001 | c0001 | t0001 | g0206 | AMR | PEL | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG01934 | hp2 | a0001 | c0002 | t0001 | g0103 | AMR | PEL | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG01975 | hp1 | a0001 | c0002 | t0003 | g0032 | AMR | PEL | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG01975 | hp2 | a0001 | c0001 | t0001 | g0033 | AMR | PEL | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG01978 | hp1 | a0001 | c0001 | t0001 | g0088 | AMR | PEL | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG01978 | hp2 | a0001 | c0001 | t0001 | g0058 | AMR | PEL | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG01981 | hp1 | a0001 | c0001 | t0001 | g0048 | AMR | PEL | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG01981 | hp2 | a0001 | c0001 | t0006 | g0154 | AMR | PEL | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG01993 | hp1 | a0001 | c0002 | t0006 | g0112 | AMR | PEL | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG01993 | hp2 | a0001 | c0001 | t0001 | g0059 | AMR | PEL | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG02071 | hp1 | a0001 | c0001 | t0035 | g0122 | EAS | KHV | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG02071 | hp2 | a0001 | c0001 | t0001 | g0041 | EAS | KHV | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG02080 | hp1 | a0001 | c0001 | t0001 | g0152 | EAS | KHV | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG02080 | hp2 | a0001 | c0001 | t0001 | g0044 | EAS | KHV | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG02083 | hp1 | a0001 | c0001 | t0031 | g0043 | EAS | KHV | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG02083 | hp2 | a0001 | c0001 | t0001 | g0087 | EAS | KHV | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG02145 | hp1 | a0001 | c0001 | t0026 | g0159 | AFR | ACB | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG02145 | hp2 | a0001 | c0005 | t0038 | g0138 | AFR | ACB | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG02148 | hp1 | a0001 | c0002 | t0006 | g0111 | AMR | PEL | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG02148 | hp2 | a0001 | c0001 | t0001 | g0051 | AMR | PEL | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG02165 | hp1 | a0001 | c0001 | t0045 | g0163 | EAS | CDX | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG02165 | hp2 | a0001 | c0001 | t0001 | g0040 | EAS | CDX | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG02257 | hp1 | a0001 | c0001 | t0001 | g0042 | AFR | ACB | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG02257 | hp2 | a0001 | c0002 | t0002 | g0192 | AFR | ACB | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG02280 | hp1 | a0001 | c0002 | t0017 | g0214 | AFR | ACB | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG02280 | hp2 | a0001 | c0001 | t0001 | g0171 | AFR | ACB | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG02293 | hp1 | a0001 | c0001 | t0001 | g0077 | AMR | PEL | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG02293 | hp2 | a0001 | c0001 | t0005 | g0178 | AMR | PEL | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG02451 | hp1 | a0001 | c0001 | t0001 | g0052 | AFR | ACB | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG02451 | hp2 | a0001 | c0003 | t0001 | g0011 | AFR | ACB | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG02523 | hp1 | a0001 | c0001 | t0001 | g0147 | EAS | KHV | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG02523 | hp2 | a0001 | c0001 | t0001 | g0158 | EAS | KHV | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG02572 | hp1 | a0001 | c0002 | t0005 | g0187 | AFR | GWD | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG02572 | hp2 | a0001 | c0003 | t0001 | g0012 | AFR | GWD | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG02602 | hp1 | a0001 | c0001 | t0005 | g0179 | SAS | PJL | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG02602 | hp2 | a0001 | c0001 | t0036 | g0083 | SAS | PJL | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG02615 | hp1 | a0001 | c0002 | t0005 | g0188 | AFR | GWD | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG02615 | hp2 | a0001 | c0002 | t0002 | g0194 | AFR | GWD | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG02622 | hp1 | a0001 | c0009 | t0004 | g0062 | AFR | GWD | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG02622 | hp2 | a0001 | c0004 | t0004 | g0183 | AFR | GWD | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG02630 | hp1 | a0001 | c0002 | t0051 | g0244 | AFR | GWD | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG02630 | hp2 | a0001 | c0001 | t0005 | g0180 | AFR | GWD | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG02647 | hp1 | a0001 | c0001 | t0019 | g0245 | AFR | GWD | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG02647 | hp2 | a0001 | c0002 | t0002 | g0202 | AFR | GWD | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG02698 | hp1 | a0001 | c0002 | t0006 | g0153 | SAS | PJL | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG02698 | hp2 | a0001 | c0001 | t0005 | g0045 | SAS | PJL | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG02717 | hp1 | a0001 | c0005 | t0007 | g0242 | AFR | GWD | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG02717 | hp2 | a0001 | c0004 | t0004 | g0190 | AFR | GWD | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG02723 | hp1 | a0001 | c0001 | t0003 | g0064 | AFR | GWD | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG02723 | hp2 | a0001 | c0002 | t0002 | g0199 | AFR | GWD | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG02735 | hp1 | a0001 | c0001 | t0005 | g0223 | SAS | PJL | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG02735 | hp2 | a0001 | c0001 | t0006 | g0053 | SAS | PJL | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG02738 | hp1 | a0001 | c0001 | t0012 | g0227 | SAS | PJL | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG02738 | hp2 | a0001 | c0001 | t0001 | g0133 | SAS | PJL | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG02809 | hp1 | a0001 | c0001 | t0003 | g0226 | AFR | GWD | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG02809 | hp2 | a0001 | c0001 | t0004 | g0016 | AFR | GWD | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG02818 | hp1 | a0001 | c0002 | t0002 | g0213 | AFR | GWD | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG02818 | hp2 | a0001 | c0002 | t0010 | g0065 | AFR | GWD | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG02895 | hp1 | a0001 | c0002 | t0007 | g0240 | AFR | GWD | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG02895 | hp2 | a0001 | c0001 | t0001 | g0024 | AFR | GWD | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG02922 | hp1 | a0001 | c0006 | t0022 | g0004 | AFR | ESN | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG02922 | hp2 | a0001 | c0002 | t0002 | g0201 | AFR | ESN | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG02965 | hp1 | a0001 | c0006 | t0018 | g0074 | AFR | ESN | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG02965 | hp2 | a0001 | c0001 | t0030 | g0160 | AFR | ESN | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG02970 | hp1 | a0001 | c0002 | t0007 | g0238 | AFR | ESN | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG02970 | hp2 | a0001 | c0001 | t0003 | g0014 | AFR | ESN | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG02976 | hp1 | a0001 | c0010 | t0004 | g0230 | AFR | ESN | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG02976 | hp2 | a0001 | c0001 | t0025 | g0019 | AFR | ESN | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG03017 | hp1 | a0001 | c0001 | t0003 | g0167 | SAS | PJL | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG03017 | hp2 | a0001 | c0001 | t0001 | g0031 | SAS | PJL | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG03041 | hp1 | a0001 | c0001 | t0003 | g0189 | AFR | GWD | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG03041 | hp2 | a0001 | c0002 | t0028 | g0173 | AFR | GWD | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG03098 | hp1 | a0001 | c0003 | t0001 | g0013 | AFR | MSL | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG03098 | hp2 | a0001 | c0001 | t0043 | g0026 | AFR | MSL | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG03130 | hp1 | a0001 | c0002 | t0007 | g0243 | AFR | ESN | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG03130 | hp2 | a0001 | c0002 | t0002 | g0200 | AFR | ESN | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG03139 | hp1 | a0001 | c0002 | t0002 | g0212 | AFR | ESN | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG03139 | hp2 | a0001 | c0011 | t0041 | g0078 | AFR | ESN | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG03195 | hp1 | a0001 | c0003 | t0017 | g0063 | AFR | ESN | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG03195 | hp2 | a0001 | c0002 | t0020 | g0002 | AFR | ESN | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG03209 | hp1 | a0001 | c0003 | t0001 | g0021 | AFR | MSL | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG03209 | hp2 | a0001 | c0002 | t0002 | g0195 | AFR | MSL | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG03225 | hp1 | a0001 | c0002 | t0007 | g0236 | AFR | MSL | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG03225 | hp2 | a0001 | c0001 | t0050 | g0237 | AFR | MSL | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG03239 | hp1 | a0001 | c0001 | t0044 | g0047 | SAS | PJL | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG03239 | hp2 | a0001 | c0001 | t0001 | g0168 | SAS | PJL | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG03486 | hp1 | a0001 | c0002 | t0005 | g0075 | AFR | MSL | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG03486 | hp2 | a0001 | c0002 | t0029 | g0186 | AFR | MSL | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG03516 | hp1 | a0001 | c0001 | t0003 | g0185 | AFR | ESN | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG03516 | hp2 | a0001 | c0001 | t0003 | g0015 | AFR | ESN | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG03540 | hp1 | a0001 | c0001 | t0002 | g0071 | AFR | GWD | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG03540 | hp2 | a0001 | c0001 | t0024 | g0220 | AFR | GWD | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG03579 | hp1 | a0001 | c0004 | t0004 | g0141 | AFR | MSL | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG03579 | hp2 | a0001 | c0002 | t0007 | g0239 | AFR | MSL | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG03654 | hp1 | a0001 | c0001 | t0049 | g0232 | SAS | PJL | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG03654 | hp2 | a0001 | c0001 | t0001 | g0140 | SAS | PJL | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG03710 | hp1 | a0001 | c0001 | t0047 | g0231 | SAS | PJL | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG03710 | hp2 | a0001 | c0001 | t0001 | g0107 | SAS | PJL | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG03834 | hp1 | a0001 | c0001 | t0001 | g0035 | SAS | BEB | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG03834 | hp2 | a0001 | c0001 | t0003 | g0121 | SAS | BEB | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG04115 | hp1 | a0001 | c0001 | t0012 | g0225 | SAS | STU | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG04115 | hp2 | a0001 | c0001 | t0001 | g0072 | SAS | STU | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG04199 | hp1 | a0001 | c0001 | t0001 | g0046 | SAS | STU | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG04199 | hp2 | a0001 | c0001 | t0048 | g0234 | SAS | STU | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG04204 | hp1 | a0001 | c0001 | t0001 | g0056 | SAS | STU | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG04204 | hp2 | a0001 | c0002 | t0006 | g0123 | SAS | STU | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG04228 | hp1 | a0001 | c0001 | t0004 | g0228 | SAS | STU | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG04228 | hp2 | a0001 | c0001 | t0005 | g0181 | SAS | STU | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
NA18522 | hp1 | a0002 | c0007 | t0042 | g0128 | AFR | YRI | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
NA18522 | hp2 | a0001 | c0004 | t0004 | g0142 | AFR | YRI | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
NA18747 | hp1 | a0001 | c0001 | t0001 | g0119 | EAS | CHB | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
NA18747 | hp2 | a0001 | c0001 | t0001 | g0156 | EAS | CHB | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
NA18906 | hp1 | a0001 | c0001 | t0001 | g0176 | AFR | YRI | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
NA18906 | hp2 | a0001 | c0001 | t0039 | g0100 | AFR | YRI | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
NA18945 | hp1 | a0001 | c0001 | t0015 | g0149 | EAS | JPT | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
NA18945 | hp2 | a0001 | c0001 | t0001 | g0091 | EAS | JPT | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
NA18946 | hp1 | a0001 | c0001 | t0001 | g0095 | EAS | JPT | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
NA18946 | hp2 | a0001 | c0001 | t0008 | g0124 | EAS | JPT | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
NA18948 | hp1 | a0001 | c0001 | t0001 | g0146 | EAS | JPT | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
NA18948 | hp2 | a0001 | c0001 | t0001 | g0098 | EAS | JPT | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
NA18950 | hp1 | a0001 | c0001 | t0001 | g0102 | EAS | JPT | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
NA18950 | hp2 | a0001 | c0001 | t0001 | g0134 | EAS | JPT | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
NA18953 | hp1 | a0001 | c0001 | t0001 | g0096 | EAS | JPT | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
NA18953 | hp2 | a0001 | c0001 | t0008 | g0125 | EAS | JPT | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
NA18954 | hp1 | a0001 | c0001 | t0008 | g0172 | EAS | JPT | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
NA18954 | hp2 | a0001 | c0001 | t0001 | g0094 | EAS | JPT | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
NA18966 | hp1 | a0001 | c0001 | t0034 | g0090 | EAS | JPT | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
NA18966 | hp2 | a0001 | c0001 | t0001 | g0170 | EAS | JPT | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
NA18968 | hp1 | a0001 | c0001 | t0001 | g0082 | EAS | JPT | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
NA18968 | hp2 | a0001 | c0001 | t0001 | g0164 | EAS | JPT | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
NA18981 | hp1 | a0001 | c0001 | t0001 | g0148 | EAS | JPT | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
NA18981 | hp2 | a0001 | c0001 | t0001 | g0092 | EAS | JPT | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
NA18986 | hp1 | a0001 | c0001 | t0001 | g0150 | EAS | JPT | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
NA18986 | hp2 | a0001 | c0001 | t0001 | g0081 | EAS | JPT | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
NA18995 | hp1 | a0001 | c0001 | t0009 | g0084 | EAS | JPT | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
NA18995 | hp2 | a0001 | c0001 | t0015 | g0130 | EAS | JPT | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
NA19000 | hp1 | a0001 | c0001 | t0001 | g0079 | EAS | JPT | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
NA19000 | hp2 | a0001 | c0001 | t0001 | g0169 | EAS | JPT | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
NA19010 | hp1 | a0001 | c0001 | t0009 | g0085 | EAS | JPT | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
NA19010 | hp2 | a0001 | c0001 | t0009 | g0174 | EAS | JPT | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
NA19030 | hp1 | a0001 | c0001 | t0001 | g0129 | AFR | LWK | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
NA19030 | hp2 | a0001 | c0001 | t0001 | g0018 | AFR | LWK | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
NA19043 | hp1 | a0001 | c0002 | t0002 | g0224 | AFR | LWK | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
NA19043 | hp2 | a0001 | c0001 | t0005 | g0073 | AFR | LWK | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
NA19066 | hp1 | a0001 | c0001 | t0001 | g0151 | EAS | JPT | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
NA19066 | hp2 | a0001 | c0001 | t0001 | g0191 | EAS | JPT | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
NA19081 | hp1 | a0001 | c0001 | t0001 | g0057 | EAS | JPT | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
NA19081 | hp2 | a0001 | c0001 | t0008 | g0126 | EAS | JPT | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
NA19087 | hp1 | a0001 | c0001 | t0001 | g0155 | EAS | JPT | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
NA19087 | hp2 | a0001 | c0001 | t0001 | g0080 | EAS | JPT | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
NA19091 | hp1 | a0001 | c0001 | t0001 | g0050 | EAS | JPT | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
NA19091 | hp2 | a0001 | c0001 | t0001 | g0097 | EAS | JPT | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
NA20129 | hp1 | a0001 | c0002 | t0002 | g0196 | AFR | ASW | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
NA20129 | hp2 | a0001 | c0001 | t0001 | g0229 | AFR | ASW | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
NA20752 | hp1 | a0001 | c0001 | t0027 | g0135 | EUR | TSI | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
NA20752 | hp2 | a0001 | c0001 | t0008 | g0118 | EUR | TSI | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
NA20805 | hp1 | a0001 | c0001 | t0040 | g0222 | EUR | TSI | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
NA20805 | hp2 | a0001 | c0001 | t0001 | g0115 | EUR | TSI | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
NA20905 | hp1 | a0001 | c0001 | t0001 | g0166 | SAS | GIH | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
NA20905 | hp2 | a0001 | c0001 | t0001 | g0023 | SAS | GIH | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG01123 | hp1 | a0001 | c0008 | t0033 | g0049 | AMR | CLM | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG01123 | hp2 | a0001 | c0002 | t0006 | g0109 | AMR | CLM | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG02109 | hp1 | a0001 | c0001 | t0002 | g0070 | AFR | ACB | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG02109 | hp2 | a0001 | c0002 | t0007 | g0241 | AFR | ACB | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG02486 | hp1 | a0001 | c0001 | t0001 | g0177 | AFR | ACB | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG02486 | hp2 | a0001 | c0002 | t0019 | g0235 | AFR | ACB | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG02559 | hp1 | a0001 | c0005 | t0037 | g0055 | AFR | ACB | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG02559 | hp2 | a0001 | c0006 | t0018 | g0017 | AFR | ACB | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG03471 | hp1 | a0001 | c0002 | t0002 | g0204 | AFR | MSL | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG03471 | hp2 | a0001 | c0001 | t0003 | g0184 | AFR | MSL | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG06807 | hp1 | a0001 | c0002 | t0002 | g0198 | AFR | USA | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
HG06807 | hp2 | a0001 | c0001 | t0013 | g0028 | AFR | USA | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
NA20300 | hp1 | a0001 | c0002 | t0002 | g0197 | AFR | USA | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
NA20300 | hp2 | a0001 | c0002 | t0006 | g0114 | AFR | USA | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
NA21309 | hp1 | a0001 | c0003 | t0023 | g0132 | AFR | LWK | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
NA21309 | hp2 | a0001 | c0002 | t0005 | g0076 | AFR | LWK | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
homoSapiens | chm13v2 | a0001 | c0001 | t0001 | g0020 | REF | REF | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
homoSapiens | grch38p0 | a0001 | c0002 | t0002 | g0203 | REF | REF | SPTLC2_chr14_77500997_77621637 | SPTLC2 | chr14 | 77500997 | 77621637 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr14:77576892 | C | G | 1 | a0002 | 1 | NA18522.hp1 | missense_variant | MODERATE | c.506G>C | p.Gly169Ala | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/12 | 564/8034 | 506/1689 | 169/562 | chr14 | 77576892 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr14:77512359 | C | T | 1 | a0001c0010 | 1 | HG02976.hp1 | synonymous_variant | LOW | c.1614G>A | p.Lys538Lys | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 12/12 | 1672/8034 | 1614/1689 | 538/562 | chr14 | 77512359 | |||
chr14:77521457 | A | C | 2 | a0001c0004 a0001c0009 |
5 | HG02622.hp1 HG02622.hp2 HG02717.hp2 others(2): Show |
synonymous_variant | LOW | c.1428T>G | p.Pro476Pro | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 10/12 | 1486/8034 | 1428/1689 | 476/562 | chr14 | 77521457 | |||
chr14:77552160 | A | G | 1 | a0001c0008 | 1 | HG01123.hp1 | synonymous_variant | LOW | c.1239T>C | p.Pro413Pro | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/12 | 1297/8034 | 1239/1689 | 413/562 | chr14 | 77552160 | |||
chr14:77552172 | C | T | 1 | a0001c0006 | 3 | HG02559.hp2 HG02922.hp1 HG02965.hp1 |
synonymous_variant | LOW | c.1227G>A | p.Thr409Thr | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/12 | 1285/8034 | 1227/1689 | 409/562 | chr14 | 77552172 | |||
chr14:77562460 | A | G | 8 | a0001c0001 a0001c0003 a0001c0004 others(5): Show |
196 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(193): Show |
synonymous_variant | LOW | c.786T>C | p.Asn262Asn | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/12 | 844/8034 | 786/1689 | 262/562 | chr14 | 77562460 | |||
chr14:77570417 | C | A | 2 | a0001c0003 a0001c0009 |
7 | HG02451.hp2 HG02572.hp2 HG02622.hp1 others(4): Show |
synonymous_variant | LOW | c.723G>T | p.Thr241Thr | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/12 | 781/8034 | 723/1689 | 241/562 | chr14 | 77570417 | |||
chr14:77570417 | C | T | 1 | a0001c0005 | 3 | HG02145.hp2 HG02559.hp1 HG02717.hp1 |
synonymous_variant | LOW | c.723G>A | p.Thr241Thr | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/12 | 781/8034 | 723/1689 | 241/562 | chr14 | 77570417 | |||
chr14:77576786 | G | A | 1 | a0001c0010 | 1 | HG02976.hp1 | synonymous_variant | LOW | c.612C>T | p.Cys204Cys | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/12 | 670/8034 | 612/1689 | 204/562 | chr14 | 77576786 | |||
chr14:77597351 | T | G | 1 | a0001c0011 | 1 | HG03139.hp2 | synonymous_variant | LOW | c.162A>C | p.Leu54Leu | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/12 | 220/8034 | 162/1689 | 54/562 | chr14 | 77597351 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr14:77506000 | C | A | 1 | a0001c0003t0023 | 1 | NA21309.hp1 | 3_prime_UTR_variant | MODIFIER | c.*6284G>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 12/12 | 6284 | chr14 | 77506000 | ||||||
chr14:77506031 | A | G | 1 | a0001c0001t0036 | 1 | HG02602.hp2 | 3_prime_UTR_variant | MODIFIER | c.*6253T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 12/12 | 6253 | chr14 | 77506031 | ||||||
chr14:77506204 | G | C | 3 | a0001c0001t0006 a0001c0001t0011 a0001c0002t0006 |
13 | HG00642.hp2 HG00735.hp2 HG00741.hp1 others(10): Show |
3_prime_UTR_variant | MODIFIER | c.*6080C>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 12/12 | 6080 | chr14 | 77506204 | ||||||
chr14:77506385 | G | A | 1 | a0001c0008t0033 | 1 | HG01123.hp1 | 3_prime_UTR_variant | MODIFIER | c.*5899C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 12/12 | 5899 | chr14 | 77506385 | ||||||
chr14:77506392 | G | T | 1 | a0001c0001t0050 | 1 | HG03225.hp2 | 3_prime_UTR_variant | MODIFIER | c.*5892C>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 12/12 | 5892 | chr14 | 77506392 | ||||||
chr14:77506753 | T | C | 6 | a0001c0001t0004 a0001c0001t0046 a0001c0002t0010 others(3): Show |
17 | HG00323.hp2 HG01069.hp1 HG01071.hp2 others(14): Show |
3_prime_UTR_variant | MODIFIER | c.*5531A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 12/12 | 5531 | chr14 | 77506753 | ||||||
chr14:77506889 | G | C | 1 | a0001c0001t0043 | 1 | HG03098.hp2 | 3_prime_UTR_variant | MODIFIER | c.*5395C>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 12/12 | 5395 | chr14 | 77506889 | ||||||
chr14:77506926 | A | G | 4 | a0001c0002t0007 a0001c0002t0017 a0001c0003t0017 others(1): Show |
9 | HG02109.hp2 HG02280.hp1 HG02717.hp1 others(6): Show |
3_prime_UTR_variant | MODIFIER | c.*5358T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 12/12 | 5358 | chr14 | 77506926 | ||||||
chr14:77507332 | C | CT | 11 | a0001c0001t0004 a0001c0001t0009 a0001c0001t0026 others(8): Show |
24 | HG00323.hp2 HG01069.hp1 HG01071.hp2 others(21): Show |
3_prime_UTR_variant | MODIFIER | c.*4951dupA | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 12/12 | 4951 | chr14 | 77507332 | ||||||
chr14:77507332 | C | CTTT | 4 | a0001c0002t0007 a0001c0002t0017 a0001c0003t0017 others(1): Show |
9 | HG02109.hp2 HG02280.hp1 HG02717.hp1 others(6): Show |
3_prime_UTR_variant | MODIFIER | c.*4949_*4951dupAAA | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 12/12 | 4951 | chr14 | 77507332 | ||||||
chr14:77507370 | G | A | 4 | a0001c0002t0007 a0001c0002t0017 a0001c0003t0017 others(1): Show |
9 | HG02109.hp2 HG02280.hp1 HG02717.hp1 others(6): Show |
3_prime_UTR_variant | MODIFIER | c.*4914C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 12/12 | 4914 | chr14 | 77507370 | ||||||
chr14:77507512 | A | T | 1 | a0001c0001t0035 | 1 | HG02071.hp1 | 3_prime_UTR_variant | MODIFIER | c.*4772T>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 12/12 | 4772 | chr14 | 77507512 | ||||||
chr14:77507610 | G | GCA | 43 | a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(40): Show |
195 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(192): Show |
3_prime_UTR_variant | MODIFIER | c.*4673_*4674insTG | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 12/12 | 4673 | chr14 | 77507610 | ||||||
chr14:77507639 | T | C | 58 | a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(55): Show |
222 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(219): Show |
3_prime_UTR_variant | MODIFIER | c.*4645A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 12/12 | 4645 | chr14 | 77507639 | ||||||
chr14:77507751 | C | T | 1 | a0001c0001t0034 | 1 | NA18966.hp1 | 3_prime_UTR_variant | MODIFIER | c.*4533G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 12/12 | 4533 | chr14 | 77507751 | ||||||
chr14:77507781 | T | C | 1 | a0001c0001t0043 | 1 | HG03098.hp2 | 3_prime_UTR_variant | MODIFIER | c.*4503A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 12/12 | 4503 | chr14 | 77507781 | ||||||
chr14:77507838 | C | A | 17 | a0001c0001t0001 a0001c0001t0009 a0001c0001t0013 others(14): Show |
123 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(120): Show |
3_prime_UTR_variant | MODIFIER | c.*4446G>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 12/12 | 4446 | chr14 | 77507838 | ||||||
chr14:77507853 | C | A | 1 | a0001c0001t0043 | 1 | HG03098.hp2 | 3_prime_UTR_variant | MODIFIER | c.*4431G>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 12/12 | 4431 | chr14 | 77507853 | ||||||
chr14:77508008 | C | T | 1 | a0001c0002t0010 | 2 | HG01891.hp1 HG02818.hp2 |
3_prime_UTR_variant | MODIFIER | c.*4276G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 12/12 | 4276 | chr14 | 77508008 | ||||||
chr14:77508086 | G | A | 4 | a0001c0002t0007 a0001c0002t0017 a0001c0003t0017 others(1): Show |
9 | HG02109.hp2 HG02280.hp1 HG02717.hp1 others(6): Show |
3_prime_UTR_variant | MODIFIER | c.*4198C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 12/12 | 4198 | chr14 | 77508086 | ||||||
chr14:77508153 | C | T | 3 | a0001c0001t0012 a0001c0001t0047 a0001c0001t0049 |
4 | HG02738.hp1 HG03654.hp1 HG03710.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*4131G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 12/12 | 4131 | chr14 | 77508153 | ||||||
chr14:77508176 | C | T | 1 | a0001c0008t0033 | 1 | HG01123.hp1 | 3_prime_UTR_variant | MODIFIER | c.*4108G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 12/12 | 4108 | chr14 | 77508176 | ||||||
chr14:77508194 | AT | A | 4 | a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 others(1): Show |
18 | HG00642.hp2 HG00735.hp2 HG00741.hp1 others(15): Show |
3_prime_UTR_variant | MODIFIER | c.*4089delA | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 12/12 | 4089 | chr14 | 77508194 | ||||||
chr14:77508245 | A | G | 1 | a0001c0001t0032 | 1 | HG01168.hp1 | 3_prime_UTR_variant | MODIFIER | c.*4039T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 12/12 | 4039 | chr14 | 77508245 | ||||||
chr14:77508247 | C | T | 1 | a0001c0001t0015 | 2 | NA18945.hp1 NA18995.hp2 |
3_prime_UTR_variant | MODIFIER | c.*4037G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 12/12 | 4037 | chr14 | 77508247 | ||||||
chr14:77508422 | A | G | 1 | a0001c0001t0011 | 2 | HG00642.hp2 HG00735.hp2 |
3_prime_UTR_variant | MODIFIER | c.*3862T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 12/12 | 3862 | chr14 | 77508422 | ||||||
chr14:77508472 | G | A | 3 | a0001c0002t0051 a0001c0011t0041 a0002c0007t0042 |
3 | HG02630.hp1 HG03139.hp2 NA18522.hp1 |
3_prime_UTR_variant | MODIFIER | c.*3812C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 12/12 | 3812 | chr14 | 77508472 | ||||||
chr14:77508534 | T | C | 1 | a0002c0007t0042 | 1 | NA18522.hp1 | 3_prime_UTR_variant | MODIFIER | c.*3750A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 12/12 | 3750 | chr14 | 77508534 | ||||||
chr14:77508647 | C | T | 38 | a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(35): Show |
171 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(168): Show |
3_prime_UTR_variant | MODIFIER | c.*3637G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 12/12 | 3637 | chr14 | 77508647 | ||||||
chr14:77508672 | A | T | 60 | a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(57): Show |
225 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(222): Show |
3_prime_UTR_variant | MODIFIER | c.*3612T>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 12/12 | 3612 | chr14 | 77508672 | ||||||
chr14:77508758 | T | A | 1 | a0001c0001t0030 | 1 | HG02965.hp2 | 3_prime_UTR_variant | MODIFIER | c.*3526A>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 12/12 | 3526 | chr14 | 77508758 | ||||||
chr14:77508760 | T | G | 40 | a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(37): Show |
173 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(170): Show |
3_prime_UTR_variant | MODIFIER | c.*3524A>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 12/12 | 3524 | chr14 | 77508760 | ||||||
chr14:77509010 | G | A | 2 | a0001c0002t0051 a0002c0007t0042 |
2 | HG02630.hp1 NA18522.hp1 |
3_prime_UTR_variant | MODIFIER | c.*3274C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 12/12 | 3274 | chr14 | 77509010 | ||||||
chr14:77509060 | G | A | 1 | a0001c0001t0043 | 1 | HG03098.hp2 | 3_prime_UTR_variant | MODIFIER | c.*3224C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 12/12 | 3224 | chr14 | 77509060 | ||||||
chr14:77509250 | G | C | 3 | a0001c0002t0051 a0001c0011t0041 a0002c0007t0042 |
3 | HG02630.hp1 HG03139.hp2 NA18522.hp1 |
3_prime_UTR_variant | MODIFIER | c.*3034C>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 12/12 | 3034 | chr14 | 77509250 | ||||||
chr14:77509318 | C | T | 1 | a0001c0001t0031 | 1 | HG02083.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2966G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 12/12 | 2966 | chr14 | 77509318 | ||||||
chr14:77509371 | TCTC | T | 4 | a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 others(1): Show |
18 | HG00642.hp2 HG00735.hp2 HG00741.hp1 others(15): Show |
3_prime_UTR_variant | MODIFIER | c.*2910_*2912delGAG | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 12/12 | 2910 | chr14 | 77509371 | ||||||
chr14:77509564 | CAG | C | 7 | a0001c0001t0004 a0001c0001t0024 a0001c0001t0046 others(4): Show |
18 | HG00323.hp2 HG01069.hp1 HG01071.hp2 others(15): Show |
3_prime_UTR_variant | MODIFIER | c.*2718_*2719delCT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 12/12 | 2718 | chr14 | 77509564 | ||||||
chr14:77509582 | C | T | 5 | a0001c0001t0005 a0001c0001t0021 a0001c0001t0040 others(2): Show |
17 | HG00099.hp1 HG01081.hp2 HG01167.hp2 others(14): Show |
3_prime_UTR_variant | MODIFIER | c.*2702G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 12/12 | 2702 | chr14 | 77509582 | ||||||
chr14:77509585 | G | T | 1 | a0001c0001t0014 | 2 | HG01106.hp1 HG01496.hp2 |
3_prime_UTR_variant | MODIFIER | c.*2699C>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 12/12 | 2699 | chr14 | 77509585 | ||||||
chr14:77509909 | G | A | 2 | a0001c0001t0039 a0001c0001t0050 |
2 | HG03225.hp2 NA18906.hp2 |
3_prime_UTR_variant | MODIFIER | c.*2375C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 12/12 | 2375 | chr14 | 77509909 | ||||||
chr14:77509946 | C | T | 1 | a0001c0001t0025 | 1 | HG02976.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2338G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 12/12 | 2338 | chr14 | 77509946 | ||||||
chr14:77509982 | T | C | 39 | a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(36): Show |
172 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(169): Show |
3_prime_UTR_variant | MODIFIER | c.*2302A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 12/12 | 2302 | chr14 | 77509982 | ||||||
chr14:77510107 | T | G | 10 | a0001c0001t0003 a0001c0001t0012 a0001c0001t0019 others(7): Show |
26 | HG01099.hp2 HG01168.hp2 HG01257.hp2 others(23): Show |
3_prime_UTR_variant | MODIFIER | c.*2177A>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 12/12 | 2177 | chr14 | 77510107 | ||||||
chr14:77510125 | T | C | 10 | a0001c0001t0003 a0001c0001t0012 a0001c0001t0019 others(7): Show |
26 | HG01099.hp2 HG01168.hp2 HG01257.hp2 others(23): Show |
3_prime_UTR_variant | MODIFIER | c.*2159A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 12/12 | 2159 | chr14 | 77510125 | ||||||
chr14:77510542 | G | A | 6 | a0001c0001t0021 a0001c0001t0040 a0001c0002t0007 others(3): Show |
11 | HG01081.hp2 HG02109.hp2 HG02280.hp1 others(8): Show |
3_prime_UTR_variant | MODIFIER | c.*1742C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 12/12 | 1742 | chr14 | 77510542 | ||||||
chr14:77510555 | C | T | 1 | a0001c0001t0013 | 2 | HG01109.hp1 HG06807.hp2 |
3_prime_UTR_variant | MODIFIER | c.*1729G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 12/12 | 1729 | chr14 | 77510555 | ||||||
chr14:77510575 | C | T | 1 | a0001c0001t0027 | 1 | NA20752.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1709G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 12/12 | 1709 | chr14 | 77510575 | ||||||
chr14:77510577 | A | G | 2 | a0001c0006t0018 a0001c0006t0022 |
3 | HG02559.hp2 HG02922.hp1 HG02965.hp1 |
3_prime_UTR_variant | MODIFIER | c.*1707T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 12/12 | 1707 | chr14 | 77510577 | ||||||
chr14:77510629 | C | G | 11 | a0001c0001t0003 a0001c0001t0012 a0001c0001t0019 others(8): Show |
27 | HG01099.hp2 HG01168.hp2 HG01257.hp2 others(24): Show |
3_prime_UTR_variant | MODIFIER | c.*1655G>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 12/12 | 1655 | chr14 | 77510629 | ||||||
chr14:77510844 | C | A | 2 | a0001c0002t0051 a0002c0007t0042 |
2 | HG02630.hp1 NA18522.hp1 |
3_prime_UTR_variant | MODIFIER | c.*1440G>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 12/12 | 1440 | chr14 | 77510844 | ||||||
chr14:77510962 | G | C | 1 | a0001c0001t0049 | 1 | HG03654.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1322C>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 12/12 | 1322 | chr14 | 77510962 | ||||||
chr14:77511009 | A | G | 1 | a0001c0011t0041 | 1 | HG03139.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1275T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 12/12 | 1275 | chr14 | 77511009 | ||||||
chr14:77511063 | T | C | 3 | a0001c0002t0051 a0001c0011t0041 a0002c0007t0042 |
3 | HG02630.hp1 HG03139.hp2 NA18522.hp1 |
3_prime_UTR_variant | MODIFIER | c.*1221A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 12/12 | 1221 | chr14 | 77511063 | ||||||
chr14:77511150 | A | G | 4 | a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 others(1): Show |
18 | HG00642.hp2 HG00735.hp2 HG00741.hp1 others(15): Show |
3_prime_UTR_variant | MODIFIER | c.*1134T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 12/12 | 1134 | chr14 | 77511150 | ||||||
chr14:77511270 | G | A | 1 | a0001c0001t0043 | 1 | HG03098.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1014C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 12/12 | 1014 | chr14 | 77511270 | ||||||
chr14:77511542 | G | A | 2 | a0001c0006t0018 a0001c0006t0022 |
3 | HG02559.hp2 HG02922.hp1 HG02965.hp1 |
3_prime_UTR_variant | MODIFIER | c.*742C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 12/12 | 742 | chr14 | 77511542 | ||||||
chr14:77511761 | G | A | 1 | a0001c0001t0044 | 1 | HG03239.hp1 | 3_prime_UTR_variant | MODIFIER | c.*523C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 12/12 | 523 | chr14 | 77511761 | ||||||
chr14:77511774 | G | A | 2 | a0001c0006t0018 a0001c0006t0022 |
3 | HG02559.hp2 HG02922.hp1 HG02965.hp1 |
3_prime_UTR_variant | MODIFIER | c.*510C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 12/12 | 510 | chr14 | 77511774 | ||||||
chr14:77511996 | G | A | 1 | a0001c0001t0045 | 1 | HG02165.hp1 | 3_prime_UTR_variant | MODIFIER | c.*288C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 12/12 | 288 | chr14 | 77511996 | ||||||
chr14:77512278 | A | C | 8 | a0001c0001t0004 a0001c0001t0024 a0001c0001t0046 others(5): Show |
19 | HG00323.hp2 HG01069.hp1 HG01071.hp2 others(16): Show |
3_prime_UTR_variant | MODIFIER | c.*6T>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 12/12 | 6 | chr14 | 77512278 | ||||||
chr14:77616609 | C | A | 4 | a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 others(1): Show |
4 | HG01358.hp2 HG03654.hp1 HG03710.hp1 others(1): Show |
5_prime_UTR_variant | MODIFIER | c.-30G>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/12 | 30 | chr14 | 77616609 | ||||||
chr14:77616609 | C | G | 2 | a0001c0001t0021 a0001c0006t0022 |
2 | HG01081.hp2 HG02922.hp1 |
5_prime_UTR_variant | MODIFIER | c.-30G>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/12 | 30 | chr14 | 77616609 | ||||||
chr14:77616609 | C | T | 1 | a0001c0002t0020 | 1 | HG03195.hp2 | 5_prime_UTR_variant | MODIFIER | c.-30G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/12 | 30 | chr14 | 77616609 | ||||||
chr14:77616622 | G | A | 6 | a0001c0001t0019 a0001c0001t0050 a0001c0002t0007 others(3): Show |
11 | HG02109.hp2 HG02486.hp2 HG02630.hp1 others(8): Show |
5_prime_UTR_variant | MODIFIER | c.-43C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/12 | 43 | chr14 | 77616622 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr14:77512510 | G | A | 3 | a0001c0001t0039g0100 a0001c0001t0050g0237 a0001c0008t0033g0049 |
3 | HG01123.hp1 HG03225.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.1570-107C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77512510 | |||||||
chr14:77512622 | G | C | 3 | a0001c0002t0051g0244 a0001c0011t0041g0078 a0002c0007t0042g0128 |
3 | HG02630.hp1 HG03139.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.1570-219C>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77512622 | |||||||
chr14:77512747 | G | A | 1 | a0001c0001t0047g0231 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.1570-344C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77512747 | |||||||
chr14:77512767 | G | A | 18 | a0001c0001t0006g0053 a0001c0001t0006g0154 a0001c0001t0008g0118 others(15): Show |
18 | HG00642.hp2 HG00735.hp2 HG00741.hp1 others(15): Show |
intron_variant | MODIFIER | c.1570-364C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77512767 | |||||||
chr14:77512881 | A | G | 2 | a0001c0001t0003g0189 a0001c0001t0019g0245 |
2 | HG02647.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.1570-478T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77512881 | |||||||
chr14:77512953 | T | C | 1 | a0001c0001t0014g0131 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.1570-550A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77512953 | |||||||
chr14:77512960 | C | T | 1 | a0001c0001t0001g0146 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.1570-557G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77512960 | |||||||
chr14:77512981 | T | C | 199 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(196): Show |
200 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(197): Show |
intron_variant | MODIFIER | c.1570-578A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77512981 | |||||||
chr14:77513016 | C | CT | 17 | a0001c0001t0004g0005 a0001c0001t0004g0006 a0001c0001t0004g0007 others(14): Show |
17 | HG00323.hp2 HG01069.hp1 HG01071.hp2 others(14): Show |
intron_variant | MODIFIER | c.1570-614dupA | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77513016 | |||||||
chr14:77513016 | C | CTT | 10 | a0001c0001t0004g0008 a0001c0001t0046g0233 a0001c0003t0001g0012 others(7): Show |
10 | HG01258.hp1 HG01358.hp2 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.1570-615_1570-614d others(4): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77513016 | |||||||
chr14:77513016 | C | CTTT | 56 | a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0035 others(53): Show |
56 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(53): Show |
intron_variant | MODIFIER | c.1570-616_1570-614d others(5): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77513016 | |||||||
chr14:77513016 | C | CTTTT | 67 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0022 others(64): Show |
68 | HG00099.hp2 HG00438.hp1 HG00438.hp2 others(65): Show |
intron_variant | MODIFIER | c.1570-617_1570-614d others(6): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77513016 | |||||||
chr14:77513016 | C | CTTTTT | 16 | a0001c0001t0001g0058 a0001c0001t0001g0139 a0001c0001t0001g0165 others(13): Show |
16 | HG00733.hp1 HG00733.hp2 HG01069.hp2 others(13): Show |
intron_variant | MODIFIER | c.1570-618_1570-614d others(7): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77513016 | |||||||
chr14:77513016 | C | CTTTTTT | 6 | a0001c0001t0001g0052 a0001c0001t0001g0157 a0001c0001t0001g0171 others(3): Show |
6 | HG00558.hp1 HG01109.hp2 HG01167.hp1 others(3): Show |
intron_variant | MODIFIER | c.1570-619_1570-614d others(8): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77513016 | |||||||
chr14:77513016 | C | CTTTTTTT | 5 | a0001c0001t0001g0010 a0001c0001t0001g0051 a0001c0001t0001g0054 others(2): Show |
5 | HG00642.hp1 HG00738.hp1 HG01106.hp2 others(2): Show |
intron_variant | MODIFIER | c.1570-620_1570-614d others(9): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77513016 | |||||||
chr14:77513016 | C | CTTTTTTT others(3): Show |
3 | a0001c0001t0008g0172 a0001c0002t0006g0104 a0001c0002t0006g0112 |
3 | HG01255.hp2 HG01993.hp1 NA18954.hp1 |
intron_variant | MODIFIER | c.1570-623_1570-614d others(12): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77513016 | |||||||
chr14:77513016 | C | CTTTTTTT others(4): Show |
8 | a0001c0001t0006g0154 a0001c0001t0008g0118 a0001c0001t0008g0124 others(5): Show |
8 | HG01123.hp2 HG01257.hp1 HG01981.hp2 others(5): Show |
intron_variant | MODIFIER | c.1570-624_1570-614d others(13): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77513016 | |||||||
chr14:77513016 | C | CTTTTTTT others(5): Show |
7 | a0001c0001t0006g0053 a0001c0001t0008g0125 a0001c0001t0008g0126 others(4): Show |
7 | HG00642.hp2 HG00735.hp2 HG00741.hp1 others(4): Show |
intron_variant | MODIFIER | c.1570-625_1570-614d others(14): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77513016 | |||||||
chr14:77513016 | CT | C | 14 | a0001c0001t0005g0045 a0001c0001t0005g0073 a0001c0001t0005g0127 others(11): Show |
14 | HG00099.hp1 HG01081.hp2 HG01167.hp2 others(11): Show |
intron_variant | MODIFIER | c.1570-614delA | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77513016 | |||||||
chr14:77513016 | CTTTTTTT others(5): Show |
C | 2 | a0001c0002t0010g0065 a0001c0002t0010g0066 |
2 | HG01891.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.1570-625_1570-614d others(14): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77513016 | |||||||
chr14:77513120 | G | A | 2 | a0001c0001t0039g0100 a0001c0001t0050g0237 |
2 | HG03225.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.1570-717C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77513120 | |||||||
chr14:77513171 | T | C | 202 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(199): Show |
203 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(200): Show |
intron_variant | MODIFIER | c.1570-768A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77513171 | |||||||
chr14:77513200 | C | G | 199 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(196): Show |
200 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(197): Show |
intron_variant | MODIFIER | c.1570-797G>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77513200 | |||||||
chr14:77513375 | T | G | 18 | a0001c0001t0006g0053 a0001c0001t0006g0154 a0001c0001t0008g0118 others(15): Show |
18 | HG00642.hp2 HG00735.hp2 HG00741.hp1 others(15): Show |
intron_variant | MODIFIER | c.1570-972A>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77513375 | |||||||
chr14:77513455 | T | C | 2 | a0001c0001t0001g0093 a0001c0001t0001g0097 |
2 | HG00558.hp2 NA19091.hp2 |
intron_variant | MODIFIER | c.1570-1052A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77513455 | |||||||
chr14:77513457 | T | C | 1 | a0001c0003t0023g0132 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1570-1054A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77513457 | |||||||
chr14:77513543 | A | G | 1 | a0001c0001t0006g0053 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.1570-1140T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77513543 | |||||||
chr14:77513551 | G | A | 1 | a0001c0001t0043g0026 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1570-1148C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77513551 | |||||||
chr14:77513591 | T | C | 1 | a0001c0001t0001g0040 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.1570-1188A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77513591 | |||||||
chr14:77513620 | G | A | 9 | a0001c0002t0007g0236 a0001c0002t0007g0238 a0001c0002t0007g0239 others(6): Show |
9 | HG02109.hp2 HG02280.hp1 HG02717.hp1 others(6): Show |
intron_variant | MODIFIER | c.1570-1217C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77513620 | |||||||
chr14:77513665 | A | G | 199 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(196): Show |
200 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(197): Show |
intron_variant | MODIFIER | c.1570-1262T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77513665 | |||||||
chr14:77513895 | C | CA | 59 | a0001c0001t0001g0129 a0001c0001t0001g0193 a0001c0001t0004g0006 others(56): Show |
59 | HG00323.hp2 HG00642.hp2 HG00735.hp2 others(56): Show |
intron_variant | MODIFIER | c.1570-1493dupT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77513895 | |||||||
chr14:77513895 | C | CAA | 68 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0018 others(65): Show |
68 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(65): Show |
intron_variant | MODIFIER | c.1570-1494_1570-149 others(6): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77513895 | |||||||
chr14:77513895 | C | CAAA | 46 | a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0023 others(43): Show |
47 | HG00621.hp2 HG00733.hp1 HG00733.hp2 others(44): Show |
intron_variant | MODIFIER | c.1570-1495_1570-149 others(7): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77513895 | |||||||
chr14:77513932 | G | A | 18 | a0001c0001t0006g0053 a0001c0001t0006g0154 a0001c0001t0008g0118 others(15): Show |
18 | HG00642.hp2 HG00735.hp2 HG00741.hp1 others(15): Show |
intron_variant | MODIFIER | c.1570-1529C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77513932 | |||||||
chr14:77514094 | G | A | 3 | a0001c0002t0051g0244 a0001c0011t0041g0078 a0002c0007t0042g0128 |
3 | HG02630.hp1 HG03139.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.1570-1691C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77514094 | |||||||
chr14:77514108 | G | A | 1 | a0001c0003t0023g0132 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1570-1705C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77514108 | |||||||
chr14:77514258 | G | T | 1 | a0001c0001t0043g0026 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1570-1855C>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77514258 | |||||||
chr14:77514564 | G | A | 1 | a0001c0005t0037g0055 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.1570-2161C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77514564 | |||||||
chr14:77514589 | C | T | 2 | a0001c0001t0005g0181 a0001c0001t0005g0182 |
2 | HG00099.hp1 HG04228.hp2 |
intron_variant | MODIFIER | c.1570-2186G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77514589 | |||||||
chr14:77514702 | C | T | 26 | a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0064 others(23): Show |
26 | HG01099.hp2 HG01168.hp2 HG01257.hp2 others(23): Show |
intron_variant | MODIFIER | c.1570-2299G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77514702 | |||||||
chr14:77514900 | T | C | 197 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(194): Show |
198 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(195): Show |
intron_variant | MODIFIER | c.1570-2497A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77514900 | |||||||
chr14:77515147 | G | A | 3 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0148 |
3 | HG00408.hp1 NA18747.hp1 NA18981.hp1 |
intron_variant | MODIFIER | c.1570-2744C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77515147 | |||||||
chr14:77515203 | T | C | 1 | a0001c0001t0046g0233 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.1570-2800A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77515203 | |||||||
chr14:77515486 | T | C | 170 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(167): Show |
171 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(168): Show |
intron_variant | MODIFIER | c.1569+2552A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77515486 | |||||||
chr14:77515542 | C | CT | 8 | a0001c0001t0005g0178 a0001c0001t0005g0181 a0001c0002t0002g0025 others(5): Show |
8 | HG01243.hp1 HG02293.hp2 HG02572.hp1 others(5): Show |
intron_variant | MODIFIER | c.1569+2495dupA | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77515542 | |||||||
chr14:77515542 | C | CTT | 23 | a0001c0001t0003g0064 a0001c0001t0003g0121 a0001c0001t0003g0143 others(20): Show |
23 | HG01099.hp2 HG01168.hp2 HG01515.hp2 others(20): Show |
intron_variant | MODIFIER | c.1569+2494_1569+249 others(6): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77515542 | |||||||
chr14:77515542 | C | CTTT | 12 | a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0116 others(9): Show |
12 | HG01257.hp2 HG01258.hp2 HG01358.hp1 others(9): Show |
intron_variant | MODIFIER | c.1569+2493_1569+249 others(7): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77515542 | |||||||
chr14:77515542 | CT | C | 6 | a0001c0005t0038g0138 a0001c0006t0018g0017 a0001c0006t0018g0074 others(3): Show |
6 | HG02145.hp2 HG02559.hp2 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.1569+2495delA | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77515542 | |||||||
chr14:77515542 | CTTT | C | 18 | a0001c0001t0006g0053 a0001c0001t0006g0154 a0001c0001t0008g0118 others(15): Show |
18 | HG00642.hp2 HG00735.hp2 HG00741.hp1 others(15): Show |
intron_variant | MODIFIER | c.1569+2493_1569+249 others(7): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77515542 | |||||||
chr14:77515542 | CTTTTTTT others(5): Show |
C | 143 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(140): Show |
144 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(141): Show |
intron_variant | MODIFIER | c.1569+2484_1569+249 others(16): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77515542 | |||||||
chr14:77515575 | A | C | 3 | a0001c0001t0001g0082 a0001c0001t0001g0101 a0001c0001t0001g0102 |
3 | HG00621.hp1 NA18950.hp1 NA18968.hp1 |
intron_variant | MODIFIER | c.1569+2463T>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77515575 | |||||||
chr14:77515581 | G | A | 18 | a0001c0001t0006g0053 a0001c0001t0006g0154 a0001c0001t0008g0118 others(15): Show |
18 | HG00642.hp2 HG00735.hp2 HG00741.hp1 others(15): Show |
intron_variant | MODIFIER | c.1569+2457C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77515581 | |||||||
chr14:77515636 | G | A | 7 | a0001c0001t0001g0009 a0001c0001t0001g0206 a0001c0001t0001g0207 others(4): Show |
7 | HG00323.hp1 HG00735.hp1 HG00738.hp2 others(4): Show |
intron_variant | MODIFIER | c.1569+2402C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77515636 | |||||||
chr14:77515645 | A | G | 197 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(194): Show |
198 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(195): Show |
intron_variant | MODIFIER | c.1569+2393T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77515645 | |||||||
chr14:77515675 | G | A | 4 | a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0013 others(1): Show |
4 | HG02451.hp2 HG02572.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.1569+2363C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77515675 | |||||||
chr14:77515988 | C | CTG | 16 | a0001c0002t0005g0075 a0001c0002t0005g0076 a0001c0002t0005g0187 others(13): Show |
16 | HG02109.hp2 HG02145.hp2 HG02280.hp1 others(13): Show |
intron_variant | MODIFIER | c.1569+2048_1569+204 others(6): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77515988 | |||||||
chr14:77515988 | C | CTGTGTG | 18 | a0001c0001t0006g0053 a0001c0001t0006g0154 a0001c0001t0008g0118 others(15): Show |
18 | HG00642.hp2 HG00735.hp2 HG00741.hp1 others(15): Show |
intron_variant | MODIFIER | c.1569+2044_1569+204 others(10): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77515988 | |||||||
chr14:77515988 | CTGTGTGT others(23): Show |
C | 146 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(143): Show |
147 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(144): Show |
intron_variant | MODIFIER | c.1569+2020_1569+204 others(34): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77515988 | |||||||
chr14:77516003 | TGTGC | T | 22 | a0001c0001t0004g0005 a0001c0001t0004g0006 a0001c0001t0004g0007 others(19): Show |
22 | HG00323.hp2 HG01069.hp1 HG01071.hp2 others(19): Show |
intron_variant | MODIFIER | c.1569+2031_1569+203 others(8): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77516003 | |||||||
chr14:77516007 | C | T | 27 | a0001c0001t0006g0053 a0001c0001t0006g0154 a0001c0001t0008g0118 others(24): Show |
27 | HG00642.hp2 HG00735.hp2 HG00741.hp1 others(24): Show |
intron_variant | MODIFIER | c.1569+2031G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77516007 | |||||||
chr14:77516009 | C | T | 1 | a0001c0001t0005g0073 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.1569+2029G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77516009 | |||||||
chr14:77516014 | G | A | 1 | a0001c0003t0023g0132 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1569+2024C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77516014 | |||||||
chr14:77516015 | C | T | 1 | a0001c0003t0023g0132 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1569+2023G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77516015 | |||||||
chr14:77516016 | G | A | 18 | a0001c0001t0006g0053 a0001c0001t0006g0154 a0001c0001t0008g0118 others(15): Show |
18 | HG00642.hp2 HG00735.hp2 HG00741.hp1 others(15): Show |
intron_variant | MODIFIER | c.1569+2022C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77516016 | |||||||
chr14:77516079 | T | G | 18 | a0001c0001t0006g0053 a0001c0001t0006g0154 a0001c0001t0008g0118 others(15): Show |
18 | HG00642.hp2 HG00735.hp2 HG00741.hp1 others(15): Show |
intron_variant | MODIFIER | c.1569+1959A>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77516079 | |||||||
chr14:77516474 | A | G | 27 | a0001c0001t0006g0053 a0001c0001t0006g0154 a0001c0001t0008g0118 others(24): Show |
27 | HG00642.hp2 HG00735.hp2 HG00741.hp1 others(24): Show |
intron_variant | MODIFIER | c.1569+1564T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77516474 | |||||||
chr14:77516722 | A | G | 1 | a0001c0001t0043g0026 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1569+1316T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77516722 | |||||||
chr14:77516742 | C | A | 2 | a0001c0001t0013g0027 a0001c0001t0013g0028 |
2 | HG01109.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.1569+1296G>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77516742 | |||||||
chr14:77516777 | T | A | 1 | a0001c0001t0043g0026 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1569+1261A>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77516777 | |||||||
chr14:77516953 | G | A | 2 | a0001c0001t0030g0160 a0001c0001t0043g0026 |
2 | HG02965.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.1569+1085C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77516953 | |||||||
chr14:77517045 | G | A | 1 | a0001c0001t0030g0160 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1569+993C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77517045 | |||||||
chr14:77517107 | A | G | 224 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(221): Show |
225 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(222): Show |
intron_variant | MODIFIER | c.1569+931T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77517107 | |||||||
chr14:77517179 | G | A | 2 | a0001c0001t0001g0001 a0001c0001t0001g0039 |
3 | HG01515.hp1 HG01516.hp2 HG01517.hp1 |
intron_variant | MODIFIER | c.1569+859C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77517179 | |||||||
chr14:77517200 | G | A | 1 | a0001c0001t0045g0163 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.1569+838C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77517200 | |||||||
chr14:77517425 | C | A | 56 | a0001c0001t0004g0005 a0001c0001t0004g0006 a0001c0001t0004g0007 others(53): Show |
56 | HG00323.hp2 HG00642.hp2 HG00735.hp2 others(53): Show |
intron_variant | MODIFIER | c.1569+613G>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77517425 | |||||||
chr14:77517464 | C | T | 2 | a0001c0005t0037g0055 a0001c0005t0038g0138 |
2 | HG02145.hp2 HG02559.hp1 |
intron_variant | MODIFIER | c.1569+574G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77517464 | |||||||
chr14:77517594 | A | C | 1 | a0001c0001t0001g0031 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.1569+444T>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77517594 | |||||||
chr14:77517643 | C | T | 2 | a0001c0002t0007g0239 a0001c0002t0017g0214 |
2 | HG02280.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.1569+395G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77517643 | |||||||
chr14:77517723 | G | A | 2 | a0001c0001t0015g0130 a0001c0001t0015g0149 |
2 | NA18945.hp1 NA18995.hp2 |
intron_variant | MODIFIER | c.1569+315C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77517723 | |||||||
chr14:77517739 | CAG | C | 8 | a0001c0001t0004g0005 a0001c0001t0004g0006 a0001c0001t0004g0007 others(5): Show |
8 | HG00323.hp2 HG01069.hp1 HG01071.hp2 others(5): Show |
intron_variant | MODIFIER | c.1569+297_1569+298d others(4): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77517739 | |||||||
chr14:77518030 | C | A | 1 | a0001c0001t0001g0087 | 1 | HG02083.hp2 | splice_region_variant&intron_variant | LOW | c.1569+8G>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | 77518030 | |||||||
chr14:77518230 | C | T | 223 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(220): Show |
224 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(221): Show |
intron_variant | MODIFIER | c.1440-63G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 10/11 | chr14 | 77518230 | |||||||
chr14:77518425 | G | A | 9 | a0001c0002t0007g0236 a0001c0002t0007g0238 a0001c0002t0007g0239 others(6): Show |
9 | HG02109.hp2 HG02280.hp1 HG02717.hp1 others(6): Show |
intron_variant | MODIFIER | c.1440-258C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 10/11 | chr14 | 77518425 | |||||||
chr14:77518515 | C | T | 3 | a0001c0001t0039g0100 a0001c0001t0050g0237 a0001c0008t0033g0049 |
3 | HG01123.hp1 HG03225.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.1440-348G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 10/11 | chr14 | 77518515 | |||||||
chr14:77518596 | C | CA | 162 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(159): Show |
163 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(160): Show |
intron_variant | MODIFIER | c.1440-430dupT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 10/11 | chr14 | 77518596 | |||||||
chr14:77518596 | C | CAA | 8 | a0001c0001t0001g0151 a0001c0001t0001g0191 a0001c0001t0027g0135 others(5): Show |
8 | HG02630.hp1 HG02922.hp1 HG02965.hp1 others(5): Show |
intron_variant | MODIFIER | c.1440-431_1440-430d others(4): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 10/11 | chr14 | 77518596 | |||||||
chr14:77518596 | C | CAAAAA | 43 | a0001c0001t0005g0045 a0001c0001t0005g0073 a0001c0001t0005g0127 others(40): Show |
43 | HG00099.hp1 HG00735.hp2 HG00741.hp1 others(40): Show |
intron_variant | MODIFIER | c.1440-434_1440-430d others(7): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 10/11 | chr14 | 77518596 | |||||||
chr14:77518891 | C | T | 17 | a0001c0001t0004g0005 a0001c0001t0004g0006 a0001c0001t0004g0007 others(14): Show |
17 | HG00323.hp2 HG01069.hp1 HG01071.hp2 others(14): Show |
intron_variant | MODIFIER | c.1440-724G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 10/11 | chr14 | 77518891 | |||||||
chr14:77519009 | A | C | 55 | a0001c0001t0005g0045 a0001c0001t0005g0073 a0001c0001t0005g0127 others(52): Show |
55 | HG00099.hp1 HG00642.hp2 HG00735.hp2 others(52): Show |
intron_variant | MODIFIER | c.1440-842T>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 10/11 | chr14 | 77519009 | |||||||
chr14:77519048 | T | C | 1 | a0001c0003t0017g0063 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.1440-881A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 10/11 | chr14 | 77519048 | |||||||
chr14:77519054 | T | G | 18 | a0001c0001t0001g0129 a0001c0001t0005g0045 a0001c0001t0005g0073 others(15): Show |
18 | HG00099.hp1 HG01081.hp2 HG01167.hp2 others(15): Show |
intron_variant | MODIFIER | c.1440-887A>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 10/11 | chr14 | 77519054 | |||||||
chr14:77519096 | G | A | 13 | a0001c0001t0004g0005 a0001c0001t0004g0006 a0001c0001t0004g0007 others(10): Show |
13 | HG00323.hp2 HG01069.hp1 HG01071.hp2 others(10): Show |
intron_variant | MODIFIER | c.1440-929C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 10/11 | chr14 | 77519096 | |||||||
chr14:77519121 | C | A | 1 | a0001c0003t0001g0012 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.1440-954G>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 10/11 | chr14 | 77519121 | |||||||
chr14:77519191 | C | A | 1 | a0001c0001t0003g0121 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.1440-1024G>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 10/11 | chr14 | 77519191 | |||||||
chr14:77519487 | C | T | 1 | a0001c0001t0043g0026 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1440-1320G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 10/11 | chr14 | 77519487 | |||||||
chr14:77519888 | C | CT | 8 | a0001c0002t0051g0244 a0001c0004t0004g0141 a0001c0004t0004g0142 others(5): Show |
8 | HG02622.hp1 HG02622.hp2 HG02630.hp1 others(5): Show |
intron_variant | MODIFIER | c.1439+1557dupA | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 10/11 | chr14 | 77519888 | |||||||
chr14:77519888 | C | CTT | 68 | a0001c0001t0004g0005 a0001c0001t0004g0006 a0001c0001t0004g0007 others(65): Show |
68 | HG00099.hp1 HG00323.hp2 HG00642.hp2 others(65): Show |
intron_variant | MODIFIER | c.1439+1556_1439+155 others(6): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 10/11 | chr14 | 77519888 | |||||||
chr14:77519947 | A | G | 1 | a0001c0001t0043g0026 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1439+1499T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 10/11 | chr14 | 77519947 | |||||||
chr14:77519990 | C | T | 1 | a0001c0003t0001g0012 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.1439+1456G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 10/11 | chr14 | 77519990 | |||||||
chr14:77520032 | T | C | 8 | a0001c0002t0051g0244 a0001c0004t0004g0141 a0001c0004t0004g0142 others(5): Show |
8 | HG02622.hp1 HG02622.hp2 HG02630.hp1 others(5): Show |
intron_variant | MODIFIER | c.1439+1414A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 10/11 | chr14 | 77520032 | |||||||
chr14:77520138 | C | A | 1 | a0001c0001t0045g0163 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.1439+1308G>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 10/11 | chr14 | 77520138 | |||||||
chr14:77520147 | A | AAG | 223 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(220): Show |
224 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(221): Show |
intron_variant | MODIFIER | c.1439+1297_1439+129 others(6): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 10/11 | chr14 | 77520147 | |||||||
chr14:77520675 | T | C | 1 | a0001c0001t0009g0085 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.1439+771A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 10/11 | chr14 | 77520675 | |||||||
chr14:77520759 | G | A | 1 | a0001c0005t0007g0242 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.1439+687C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 10/11 | chr14 | 77520759 | |||||||
chr14:77520838 | G | A | 4 | a0001c0002t0028g0173 a0001c0005t0037g0055 a0001c0005t0038g0138 others(1): Show |
4 | HG01123.hp1 HG02145.hp2 HG02559.hp1 others(1): Show |
intron_variant | MODIFIER | c.1439+608C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 10/11 | chr14 | 77520838 | |||||||
chr14:77520887 | G | A | 1 | a0001c0001t0002g0071 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.1439+559C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 10/11 | chr14 | 77520887 | |||||||
chr14:77521165 | A | G | 1 | a0001c0001t0001g0086 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.1439+281T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 10/11 | chr14 | 77521165 | |||||||
chr14:77521214 | G | C | 1 | a0001c0001t0001g0081 | 1 | NA18986.hp2 | intron_variant | MODIFIER | c.1439+232C>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 10/11 | chr14 | 77521214 | |||||||
chr14:77521615 | C | A | 168 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(165): Show |
169 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(166): Show |
intron_variant | MODIFIER | c.1304-34G>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77521615 | |||||||
chr14:77521720 | G | C | 17 | a0001c0001t0004g0005 a0001c0001t0004g0006 a0001c0001t0004g0007 others(14): Show |
17 | HG00323.hp2 HG01069.hp1 HG01071.hp2 others(14): Show |
intron_variant | MODIFIER | c.1304-139C>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77521720 | |||||||
chr14:77521730 | T | C | 13 | a0001c0001t0004g0005 a0001c0001t0004g0006 a0001c0001t0004g0007 others(10): Show |
13 | HG00323.hp2 HG01069.hp1 HG01071.hp2 others(10): Show |
intron_variant | MODIFIER | c.1304-149A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77521730 | |||||||
chr14:77521825 | G | A | 1 | a0001c0001t0001g0082 | 1 | NA18968.hp1 | intron_variant | MODIFIER | c.1304-244C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77521825 | |||||||
chr14:77522221 | C | T | 1 | a0001c0002t0028g0173 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.1304-640G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77522221 | |||||||
chr14:77522305 | G | A | 53 | a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0024 others(50): Show |
53 | HG00558.hp1 HG00642.hp1 HG00733.hp1 others(50): Show |
intron_variant | MODIFIER | c.1304-724C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77522305 | |||||||
chr14:77522319 | C | G | 1 | a0001c0001t0043g0026 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1304-738G>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77522319 | |||||||
chr14:77522459 | A | G | 224 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(221): Show |
225 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(222): Show |
intron_variant | MODIFIER | c.1304-878T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77522459 | |||||||
chr14:77522495 | A | C | 3 | a0001c0006t0018g0017 a0001c0006t0018g0074 a0001c0006t0022g0004 |
3 | HG02559.hp2 HG02922.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.1304-914T>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77522495 | |||||||
chr14:77522518 | C | T | 1 | a0001c0001t0039g0100 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1304-937G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77522518 | |||||||
chr14:77522665 | G | C | 2 | a0001c0001t0030g0160 a0001c0001t0045g0163 |
2 | HG02165.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.1304-1084C>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77522665 | |||||||
chr14:77523294 | A | T | 18 | a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0064 others(15): Show |
18 | HG01358.hp1 HG01358.hp2 HG01975.hp1 others(15): Show |
intron_variant | MODIFIER | c.1304-1713T>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77523294 | |||||||
chr14:77523337 | T | C | 1 | a0001c0011t0041g0078 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.1304-1756A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77523337 | |||||||
chr14:77523400 | GTGGAGAG others(1): Show |
G | 3 | a0001c0001t0001g0089 a0001c0001t0001g0134 a0001c0001t0001g0170 |
3 | HG00621.hp2 NA18950.hp2 NA18966.hp2 |
intron_variant | MODIFIER | c.1304-1827_1304-182 others(12): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77523400 | |||||||
chr14:77523440 | G | A | 22 | a0001c0001t0001g0040 a0001c0001t0001g0067 a0001c0001t0001g0077 others(19): Show |
22 | HG00280.hp1 HG00642.hp2 HG00735.hp2 others(19): Show |
intron_variant | MODIFIER | c.1304-1859C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77523440 | |||||||
chr14:77523483 | G | C | 70 | a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0024 others(67): Show |
70 | HG00408.hp2 HG00438.hp1 HG00558.hp2 others(67): Show |
intron_variant | MODIFIER | c.1304-1902C>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77523483 | |||||||
chr14:77523556 | C | T | 1 | a0001c0001t0025g0019 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.1304-1975G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77523556 | |||||||
chr14:77523575 | A | G | 133 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(130): Show |
134 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(131): Show |
intron_variant | MODIFIER | c.1304-1994T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77523575 | |||||||
chr14:77523585 | G | A | 1 | a0001c0001t0008g0172 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.1304-2004C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77523585 | |||||||
chr14:77523595 | A | G | 53 | a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0023 others(50): Show |
53 | HG00323.hp2 HG00558.hp1 HG00642.hp1 others(50): Show |
intron_variant | MODIFIER | c.1304-2014T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77523595 | |||||||
chr14:77523608 | A | G | 9 | a0001c0001t0001g0129 a0001c0001t0043g0026 a0001c0002t0003g0032 others(6): Show |
9 | HG01358.hp1 HG01975.hp1 HG02145.hp2 others(6): Show |
intron_variant | MODIFIER | c.1304-2027T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77523608 | |||||||
chr14:77523691 | G | A | 1 | a0001c0001t0001g0086 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.1304-2110C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77523691 | |||||||
chr14:77523732 | T | A | 50 | a0001c0001t0001g0018 a0001c0001t0001g0040 a0001c0001t0001g0041 others(47): Show |
50 | HG00280.hp1 HG00323.hp1 HG00438.hp2 others(47): Show |
intron_variant | MODIFIER | c.1304-2151A>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77523732 | |||||||
chr14:77523758 | C | A | 1 | a0001c0001t0001g0170 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.1304-2177G>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77523758 | |||||||
chr14:77523847 | T | C | 1 | a0001c0003t0017g0063 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.1304-2266A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77523847 | |||||||
chr14:77523959 | G | A | 46 | a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0035 others(43): Show |
47 | HG00099.hp1 HG00408.hp2 HG00438.hp1 others(44): Show |
intron_variant | MODIFIER | c.1304-2378C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77523959 | |||||||
chr14:77524008 | A | G | 1 | a0001c0001t0005g0127 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.1304-2427T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77524008 | |||||||
chr14:77524177 | C | T | 3 | a0001c0002t0002g0196 a0001c0002t0002g0224 a0001c0002t0029g0186 |
3 | HG03486.hp2 NA19043.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.1304-2596G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77524177 | |||||||
chr14:77524222 | G | A | 1 | a0001c0001t0005g0073 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.1304-2641C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77524222 | |||||||
chr14:77524260 | T | C | 3 | a0001c0006t0018g0017 a0001c0006t0018g0074 a0001c0006t0022g0004 |
3 | HG02559.hp2 HG02922.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.1304-2679A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77524260 | |||||||
chr14:77524269 | G | A | 3 | a0001c0001t0005g0179 a0001c0001t0005g0223 a0001c0001t0040g0222 |
3 | HG02602.hp1 HG02735.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.1304-2688C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77524269 | |||||||
chr14:77524439 | T | TA | 7 | a0001c0001t0003g0064 a0001c0001t0003g0226 a0001c0001t0014g0099 others(4): Show |
7 | HG01106.hp1 HG02451.hp2 HG02572.hp2 others(4): Show |
intron_variant | MODIFIER | c.1304-2859dupT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77524439 | |||||||
chr14:77524439 | TA | T | 17 | a0001c0001t0001g0081 a0001c0001t0002g0070 a0001c0001t0003g0221 others(14): Show |
17 | HG01168.hp2 HG01884.hp1 HG01891.hp1 others(14): Show |
intron_variant | MODIFIER | c.1304-2859delT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77524439 | |||||||
chr14:77524491 | C | T | 35 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0044 others(32): Show |
35 | HG00099.hp2 HG00438.hp2 HG01106.hp1 others(32): Show |
intron_variant | MODIFIER | c.1304-2910G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77524491 | |||||||
chr14:77524517 | C | T | 5 | a0001c0001t0003g0221 a0001c0001t0004g0029 a0001c0001t0030g0160 others(2): Show |
5 | HG01168.hp2 HG01884.hp1 HG02965.hp2 others(2): Show |
intron_variant | MODIFIER | c.1304-2936G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77524517 | |||||||
chr14:77524706 | G | C | 35 | a0001c0001t0001g0216 a0001c0001t0003g0014 a0001c0001t0003g0015 others(32): Show |
35 | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(32): Show |
intron_variant | MODIFIER | c.1304-3125C>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77524706 | |||||||
chr14:77524753 | C | T | 1 | a0001c0005t0007g0242 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.1304-3172G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77524753 | |||||||
chr14:77524763 | C | T | 79 | a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0035 others(76): Show |
80 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(77): Show |
intron_variant | MODIFIER | c.1304-3182G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77524763 | |||||||
chr14:77524917 | A | G | 47 | a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0040 others(44): Show |
47 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(44): Show |
intron_variant | MODIFIER | c.1304-3336T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77524917 | |||||||
chr14:77525016 | G | A | 19 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0006g0154 others(16): Show |
19 | HG00408.hp1 HG00642.hp2 HG00735.hp2 others(16): Show |
intron_variant | MODIFIER | c.1304-3435C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77525016 | |||||||
chr14:77525024 | A | C | 2 | a0001c0003t0017g0063 a0001c0004t0004g0190 |
2 | HG02717.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.1304-3443T>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77525024 | |||||||
chr14:77525026 | T | A | 28 | a0001c0001t0001g0216 a0001c0001t0003g0014 a0001c0001t0003g0015 others(25): Show |
28 | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(25): Show |
intron_variant | MODIFIER | c.1304-3445A>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77525026 | |||||||
chr14:77525057 | G | C | 3 | a0001c0002t0007g0236 a0001c0002t0007g0238 a0001c0002t0007g0243 |
3 | HG02970.hp1 HG03130.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1304-3476C>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77525057 | |||||||
chr14:77525081 | G | A | 35 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0044 others(32): Show |
35 | HG00099.hp2 HG00438.hp2 HG01106.hp1 others(32): Show |
intron_variant | MODIFIER | c.1304-3500C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77525081 | |||||||
chr14:77525089 | C | G | 225 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(222): Show |
226 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(223): Show |
intron_variant | MODIFIER | c.1304-3508G>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77525089 | |||||||
chr14:77525135 | TA | T | 37 | a0001c0001t0001g0096 a0001c0001t0001g0216 a0001c0001t0003g0014 others(34): Show |
37 | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(34): Show |
intron_variant | MODIFIER | c.1304-3555delT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77525135 | |||||||
chr14:77525236 | G | C | 2 | a0001c0001t0001g0119 a0001c0001t0001g0120 |
2 | HG00408.hp1 NA18747.hp1 |
intron_variant | MODIFIER | c.1304-3655C>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77525236 | |||||||
chr14:77525248 | A | C | 16 | a0001c0001t0003g0064 a0001c0001t0003g0226 a0001c0001t0004g0016 others(13): Show |
16 | HG01081.hp2 HG01884.hp2 HG02293.hp2 others(13): Show |
intron_variant | MODIFIER | c.1304-3667T>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77525248 | |||||||
chr14:77525329 | C | T | 94 | a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0035 others(91): Show |
95 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(92): Show |
intron_variant | MODIFIER | c.1304-3748G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77525329 | |||||||
chr14:77525349 | T | C | 1 | a0001c0001t0001g0150 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.1304-3768A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77525349 | |||||||
chr14:77525366 | C | T | 1 | a0001c0001t0005g0178 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.1304-3785G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77525366 | |||||||
chr14:77525370 | C | T | 202 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(199): Show |
203 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(200): Show |
intron_variant | MODIFIER | c.1304-3789G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77525370 | |||||||
chr14:77525384 | G | C | 47 | a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0040 others(44): Show |
47 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(44): Show |
intron_variant | MODIFIER | c.1304-3803C>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77525384 | |||||||
chr14:77525400 | T | A | 10 | a0001c0001t0002g0070 a0001c0001t0024g0220 a0001c0002t0005g0075 others(7): Show |
10 | HG01891.hp1 HG02109.hp1 HG02572.hp1 others(7): Show |
intron_variant | MODIFIER | c.1304-3819A>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77525400 | |||||||
chr14:77525415 | A | T | 1 | a0001c0001t0001g0092 | 1 | NA18981.hp2 | intron_variant | MODIFIER | c.1304-3834T>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77525415 | |||||||
chr14:77525498 | G | A | 10 | a0001c0001t0002g0070 a0001c0001t0024g0220 a0001c0002t0005g0075 others(7): Show |
10 | HG01891.hp1 HG02109.hp1 HG02572.hp1 others(7): Show |
intron_variant | MODIFIER | c.1304-3917C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77525498 | |||||||
chr14:77525521 | T | C | 1 | a0001c0001t0015g0130 | 1 | NA18995.hp2 | intron_variant | MODIFIER | c.1304-3940A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77525521 | |||||||
chr14:77525581 | C | T | 7 | a0001c0001t0004g0029 a0001c0001t0030g0160 a0001c0001t0043g0026 others(4): Show |
7 | HG01884.hp1 HG02145.hp2 HG02559.hp1 others(4): Show |
intron_variant | MODIFIER | c.1304-4000G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77525581 | |||||||
chr14:77525589 | C | CG | 3 | a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0025g0019 |
3 | HG02970.hp2 HG02976.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.1304-4009dupC | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77525589 | |||||||
chr14:77525590 | G | GA | 110 | a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0035 others(107): Show |
111 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(108): Show |
intron_variant | MODIFIER | c.1304-4010dupT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77525590 | |||||||
chr14:77525662 | G | A | 3 | a0001c0006t0018g0017 a0001c0006t0018g0074 a0001c0006t0022g0004 |
3 | HG02559.hp2 HG02922.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.1304-4081C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77525662 | |||||||
chr14:77525786 | C | T | 4 | a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0013 others(1): Show |
4 | HG02451.hp2 HG02572.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.1304-4205G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77525786 | |||||||
chr14:77525896 | A | AGAGT | 201 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(198): Show |
202 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(199): Show |
intron_variant | MODIFIER | c.1304-4316_1304-431 others(8): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77525896 | |||||||
chr14:77525901 | C | T | 2 | a0001c0001t0003g0189 a0001c0001t0019g0245 |
2 | HG02647.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.1304-4320G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77525901 | |||||||
chr14:77525943 | C | T | 10 | a0001c0002t0007g0236 a0001c0002t0007g0238 a0001c0002t0007g0239 others(7): Show |
10 | HG02109.hp2 HG02280.hp1 HG02486.hp2 others(7): Show |
intron_variant | MODIFIER | c.1304-4362G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77525943 | |||||||
chr14:77526116 | C | CAT | 225 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(222): Show |
226 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(223): Show |
intron_variant | MODIFIER | c.1304-4536_1304-453 others(6): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77526116 | |||||||
chr14:77526248 | C | T | 1 | a0001c0001t0045g0163 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.1304-4667G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77526248 | |||||||
chr14:77526303 | TC | T | 10 | a0001c0001t0002g0070 a0001c0001t0024g0220 a0001c0002t0005g0075 others(7): Show |
10 | HG01891.hp1 HG02109.hp1 HG02572.hp1 others(7): Show |
intron_variant | MODIFIER | c.1304-4723delG | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77526303 | |||||||
chr14:77526358 | T | C | 1 | a0001c0001t0001g0168 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.1304-4777A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77526358 | |||||||
chr14:77526638 | CAG | C | 10 | a0001c0002t0007g0236 a0001c0002t0007g0238 a0001c0002t0007g0239 others(7): Show |
10 | HG02109.hp2 HG02280.hp1 HG02486.hp2 others(7): Show |
intron_variant | MODIFIER | c.1304-5059_1304-505 others(6): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77526638 | |||||||
chr14:77526677 | T | C | 23 | a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0023 others(20): Show |
23 | HG00558.hp1 HG00642.hp1 HG00738.hp1 others(20): Show |
intron_variant | MODIFIER | c.1304-5096A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77526677 | |||||||
chr14:77526690 | C | T | 51 | a0001c0001t0001g0216 a0001c0001t0003g0014 a0001c0001t0003g0015 others(48): Show |
51 | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(48): Show |
intron_variant | MODIFIER | c.1304-5109G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77526690 | |||||||
chr14:77526717 | T | C | 44 | a0001c0001t0001g0216 a0001c0001t0003g0014 a0001c0001t0003g0015 others(41): Show |
44 | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(41): Show |
intron_variant | MODIFIER | c.1304-5136A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77526717 | |||||||
chr14:77526799 | C | CT | 126 | a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0035 others(123): Show |
127 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(124): Show |
intron_variant | MODIFIER | c.1304-5219dupA | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77526799 | |||||||
chr14:77526799 | C | CTT | 11 | a0001c0001t0026g0159 a0001c0002t0007g0236 a0001c0002t0007g0238 others(8): Show |
11 | HG02109.hp2 HG02145.hp1 HG02280.hp1 others(8): Show |
intron_variant | MODIFIER | c.1304-5220_1304-521 others(6): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77526799 | |||||||
chr14:77526864 | G | A | 1 | a0001c0004t0004g0190 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.1304-5283C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77526864 | |||||||
chr14:77526911 | CAG | C | 3 | a0001c0002t0002g0196 a0001c0002t0002g0224 a0001c0002t0029g0186 |
3 | HG03486.hp2 NA19043.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.1304-5332_1304-533 others(6): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77526911 | |||||||
chr14:77526956 | G | A | 1 | a0001c0006t0022g0004 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.1304-5375C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77526956 | |||||||
chr14:77527041 | G | A | 2 | a0001c0001t0004g0016 a0001c0010t0004g0230 |
2 | HG02809.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.1304-5460C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77527041 | |||||||
chr14:77527053 | C | T | 2 | a0001c0002t0010g0065 a0001c0002t0010g0066 |
2 | HG01891.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.1304-5472G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77527053 | |||||||
chr14:77527084 | G | A | 10 | a0001c0002t0007g0236 a0001c0002t0007g0238 a0001c0002t0007g0239 others(7): Show |
10 | HG02109.hp2 HG02280.hp1 HG02486.hp2 others(7): Show |
intron_variant | MODIFIER | c.1304-5503C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77527084 | |||||||
chr14:77527095 | CT | C | 98 | a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0040 others(95): Show |
98 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(95): Show |
intron_variant | MODIFIER | c.1304-5515delA | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77527095 | |||||||
chr14:77527247 | C | T | 94 | a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0035 others(91): Show |
95 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(92): Show |
intron_variant | MODIFIER | c.1304-5666G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77527247 | |||||||
chr14:77527277 | T | C | 11 | a0001c0001t0001g0139 a0001c0001t0001g0171 a0001c0001t0001g0217 others(8): Show |
11 | HG00733.hp1 HG01069.hp2 HG01243.hp2 others(8): Show |
intron_variant | MODIFIER | c.1304-5696A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77527277 | |||||||
chr14:77527488 | T | A | 1 | a0001c0001t0003g0221 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.1304-5907A>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77527488 | |||||||
chr14:77527602 | T | A | 47 | a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0040 others(44): Show |
47 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(44): Show |
intron_variant | MODIFIER | c.1304-6021A>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77527602 | |||||||
chr14:77527613 | G | A | 44 | a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0035 others(41): Show |
45 | HG00099.hp1 HG00408.hp2 HG00438.hp1 others(42): Show |
intron_variant | MODIFIER | c.1304-6032C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77527613 | |||||||
chr14:77527614 | C | G | 44 | a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0035 others(41): Show |
45 | HG00099.hp1 HG00408.hp2 HG00438.hp1 others(42): Show |
intron_variant | MODIFIER | c.1304-6033G>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77527614 | |||||||
chr14:77527645 | T | C | 1 | a0001c0001t0001g0157 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.1304-6064A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77527645 | |||||||
chr14:77527738 | T | C | 1 | a0001c0001t0003g0226 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.1304-6157A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77527738 | |||||||
chr14:77527746 | TTG | T | 108 | a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0040 others(105): Show |
108 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(105): Show |
intron_variant | MODIFIER | c.1304-6167_1304-616 others(6): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77527746 | |||||||
chr14:77527748 | G | T | 1 | a0001c0001t0001g0147 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.1304-6167C>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77527748 | |||||||
chr14:77527748 | GT | G | 93 | a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0035 others(90): Show |
94 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.1304-6168delA | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77527748 | |||||||
chr14:77527749 | T | G | 109 | a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0040 others(106): Show |
109 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(106): Show |
intron_variant | MODIFIER | c.1304-6168A>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77527749 | |||||||
chr14:77527815 | G | C | 47 | a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0040 others(44): Show |
47 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(44): Show |
intron_variant | MODIFIER | c.1304-6234C>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77527815 | |||||||
chr14:77527825 | A | G | 1 | a0001c0001t0003g0221 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.1304-6244T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77527825 | |||||||
chr14:77527940 | A | C | 16 | a0001c0001t0003g0064 a0001c0001t0003g0226 a0001c0001t0004g0016 others(13): Show |
16 | HG01081.hp2 HG01884.hp2 HG02293.hp2 others(13): Show |
intron_variant | MODIFIER | c.1304-6359T>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77527940 | |||||||
chr14:77527943 | C | T | 9 | a0001c0002t0007g0236 a0001c0002t0007g0238 a0001c0002t0007g0239 others(6): Show |
9 | HG02109.hp2 HG02280.hp1 HG02486.hp2 others(6): Show |
intron_variant | MODIFIER | c.1304-6362G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77527943 | |||||||
chr14:77528003 | T | C | 1 | a0001c0001t0014g0099 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.1304-6422A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77528003 | |||||||
chr14:77528032 | C | A | 44 | a0001c0001t0001g0216 a0001c0001t0003g0014 a0001c0001t0003g0015 others(41): Show |
44 | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(41): Show |
intron_variant | MODIFIER | c.1304-6451G>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77528032 | |||||||
chr14:77528038 | T | C | 1 | a0001c0002t0006g0114 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.1304-6457A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77528038 | |||||||
chr14:77528104 | C | G | 11 | a0001c0001t0001g0139 a0001c0001t0001g0171 a0001c0001t0001g0217 others(8): Show |
11 | HG00733.hp1 HG01069.hp2 HG01243.hp2 others(8): Show |
intron_variant | MODIFIER | c.1304-6523G>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77528104 | |||||||
chr14:77528274 | C | G | 1 | a0001c0002t0028g0173 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.1304-6693G>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77528274 | |||||||
chr14:77528411 | A | G | 1 | a0001c0003t0023g0132 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1304-6830T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77528411 | |||||||
chr14:77528422 | G | A | 10 | a0001c0002t0007g0236 a0001c0002t0007g0238 a0001c0002t0007g0239 others(7): Show |
10 | HG02109.hp2 HG02280.hp1 HG02486.hp2 others(7): Show |
intron_variant | MODIFIER | c.1304-6841C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77528422 | |||||||
chr14:77528477 | C | T | 7 | a0001c0001t0004g0029 a0001c0001t0030g0160 a0001c0001t0043g0026 others(4): Show |
7 | HG01884.hp1 HG02145.hp2 HG02559.hp1 others(4): Show |
intron_variant | MODIFIER | c.1304-6896G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77528477 | |||||||
chr14:77528478 | G | A | 58 | a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0035 others(55): Show |
59 | HG00099.hp1 HG00408.hp2 HG00438.hp1 others(56): Show |
intron_variant | MODIFIER | c.1304-6897C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77528478 | |||||||
chr14:77528530 | C | G | 94 | a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0035 others(91): Show |
95 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(92): Show |
intron_variant | MODIFIER | c.1304-6949G>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77528530 | |||||||
chr14:77528607 | A | T | 1 | a0001c0001t0001g0161 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.1304-7026T>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77528607 | |||||||
chr14:77528677 | A | G | 44 | a0001c0001t0001g0216 a0001c0001t0003g0014 a0001c0001t0003g0015 others(41): Show |
44 | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(41): Show |
intron_variant | MODIFIER | c.1304-7096T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77528677 | |||||||
chr14:77528690 | C | T | 1 | a0001c0006t0018g0017 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1304-7109G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77528690 | |||||||
chr14:77528698 | C | T | 60 | a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0035 others(57): Show |
61 | HG00099.hp1 HG00408.hp2 HG00438.hp1 others(58): Show |
intron_variant | MODIFIER | c.1304-7117G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77528698 | |||||||
chr14:77528753 | C | G | 1 | a0001c0001t0001g0145 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.1304-7172G>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77528753 | |||||||
chr14:77528762 | A | G | 2 | a0001c0002t0003g0032 a0001c0002t0003g0061 |
2 | HG01358.hp1 HG01975.hp1 |
intron_variant | MODIFIER | c.1304-7181T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77528762 | |||||||
chr14:77528793 | TCTTTTA | T | 10 | a0001c0001t0002g0070 a0001c0001t0024g0220 a0001c0002t0005g0075 others(7): Show |
10 | HG01891.hp1 HG02109.hp1 HG02572.hp1 others(7): Show |
intron_variant | MODIFIER | c.1304-7218_1304-721 others(10): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77528793 | |||||||
chr14:77528800 | C | G | 1 | a0001c0001t0035g0122 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.1304-7219G>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77528800 | |||||||
chr14:77528831 | T | C | 44 | a0001c0001t0001g0216 a0001c0001t0003g0014 a0001c0001t0003g0015 others(41): Show |
44 | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(41): Show |
intron_variant | MODIFIER | c.1304-7250A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77528831 | |||||||
chr14:77528832 | G | A | 47 | a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0040 others(44): Show |
47 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(44): Show |
intron_variant | MODIFIER | c.1304-7251C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77528832 | |||||||
chr14:77528881 | G | T | 3 | a0001c0004t0004g0141 a0001c0004t0004g0142 a0001c0004t0004g0183 |
3 | HG02622.hp2 HG03579.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.1304-7300C>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77528881 | |||||||
chr14:77528955 | C | A | 19 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0006g0154 others(16): Show |
19 | HG00408.hp1 HG00642.hp2 HG00735.hp2 others(16): Show |
intron_variant | MODIFIER | c.1304-7374G>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77528955 | |||||||
chr14:77529160 | C | T | 202 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(199): Show |
203 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(200): Show |
intron_variant | MODIFIER | c.1304-7579G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77529160 | |||||||
chr14:77529249 | T | A | 44 | a0001c0001t0001g0216 a0001c0001t0003g0014 a0001c0001t0003g0015 others(41): Show |
44 | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(41): Show |
intron_variant | MODIFIER | c.1304-7668A>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77529249 | |||||||
chr14:77529250 | CTTCTT | C | 43 | a0001c0001t0001g0009 a0001c0001t0001g0040 a0001c0001t0001g0041 others(40): Show |
43 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(40): Show |
intron_variant | MODIFIER | c.1304-7674_1304-767 others(9): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77529250 | |||||||
chr14:77529253 | CT | C | 75 | a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0033 others(72): Show |
76 | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(73): Show |
intron_variant | MODIFIER | c.1304-7673delA | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77529253 | |||||||
chr14:77529253 | CTT | C | 40 | a0001c0001t0001g0148 a0001c0001t0002g0070 a0001c0001t0003g0014 others(37): Show |
40 | HG00323.hp2 HG01081.hp2 HG01168.hp2 others(37): Show |
intron_variant | MODIFIER | c.1304-7674_1304-767 others(6): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77529253 | |||||||
chr14:77529256 | T | C | 34 | a0001c0001t0001g0042 a0001c0001t0001g0051 a0001c0001t0001g0119 others(31): Show |
34 | HG00408.hp1 HG00642.hp2 HG00733.hp1 others(31): Show |
intron_variant | MODIFIER | c.1304-7675A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77529256 | |||||||
chr14:77529257 | T | C | 73 | a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0035 others(70): Show |
74 | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(71): Show |
intron_variant | MODIFIER | c.1304-7676A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77529257 | |||||||
chr14:77529258 | T | C | 30 | a0001c0001t0001g0148 a0001c0001t0003g0014 a0001c0001t0003g0015 others(27): Show |
30 | HG00323.hp2 HG01081.hp2 HG01168.hp2 others(27): Show |
intron_variant | MODIFIER | c.1304-7677A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77529258 | |||||||
chr14:77529275 | T | A | 1 | a0001c0001t0001g0052 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1304-7694A>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77529275 | |||||||
chr14:77529291 | T | G | 1 | a0001c0001t0001g0158 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.1304-7710A>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77529291 | |||||||
chr14:77529379 | GT | G | 44 | a0001c0001t0001g0216 a0001c0001t0003g0014 a0001c0001t0003g0015 others(41): Show |
44 | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(41): Show |
intron_variant | MODIFIER | c.1304-7799delA | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77529379 | |||||||
chr14:77529388 | C | T | 7 | a0001c0001t0004g0029 a0001c0001t0030g0160 a0001c0001t0043g0026 others(4): Show |
7 | HG01884.hp1 HG02145.hp2 HG02559.hp1 others(4): Show |
intron_variant | MODIFIER | c.1304-7807G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77529388 | |||||||
chr14:77529428 | C | CT | 11 | a0001c0001t0001g0216 a0001c0001t0004g0005 a0001c0001t0004g0006 others(8): Show |
11 | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(8): Show |
intron_variant | MODIFIER | c.1304-7848dupA | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77529428 | |||||||
chr14:77529492 | C | G | 1 | a0001c0001t0001g0069 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.1304-7911G>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77529492 | |||||||
chr14:77529529 | T | C | 2 | a0001c0002t0003g0032 a0001c0002t0003g0061 |
2 | HG01358.hp1 HG01975.hp1 |
intron_variant | MODIFIER | c.1304-7948A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77529529 | |||||||
chr14:77529620 | C | CT | 5 | a0001c0001t0001g0023 a0001c0001t0001g0059 a0001c0001t0014g0131 others(2): Show |
5 | HG01496.hp2 HG01993.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1304-8040dupA | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77529620 | |||||||
chr14:77529620 | C | CTT | 19 | a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0031 others(16): Show |
19 | HG00558.hp1 HG00642.hp1 HG01106.hp2 others(16): Show |
intron_variant | MODIFIER | c.1304-8041_1304-804 others(6): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77529620 | |||||||
chr14:77529620 | C | CTTCTTTT others(25): Show |
1 | a0001c0001t0001g0092 | 1 | NA18981.hp2 | intron_variant | MODIFIER | c.1304-8040_1304-803 others(36): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77529620 | |||||||
chr14:77529620 | C | CTTTCTTT others(6): Show |
1 | a0001c0001t0001g0211 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.1304-8040_1304-803 others(17): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77529620 | |||||||
chr14:77529620 | C | CTTTCTTT others(8): Show |
2 | a0001c0001t0001g0009 a0001c0001t0001g0081 |
2 | HG00735.hp1 NA18986.hp2 |
intron_variant | MODIFIER | c.1304-8040_1304-803 others(19): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77529620 | |||||||
chr14:77529620 | C | CTTTCTTT others(12): Show |
2 | a0001c0001t0001g0018 a0001c0001t0001g0215 |
2 | HG00741.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.1304-8040_1304-803 others(23): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77529620 | |||||||
chr14:77529620 | C | CTTTCTTT others(14): Show |
1 | a0001c0001t0001g0069 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.1304-8040_1304-803 others(25): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77529620 | |||||||
chr14:77529620 | C | CTTTCTTT others(15): Show |
1 | a0001c0001t0002g0071 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.1304-8040_1304-803 others(26): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77529620 | |||||||
chr14:77529620 | C | CTTTCTTT others(18): Show |
2 | a0001c0001t0001g0040 a0001c0001t0001g0094 |
2 | HG02165.hp2 NA18954.hp2 |
intron_variant | MODIFIER | c.1304-8040_1304-803 others(29): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77529620 | |||||||
chr14:77529620 | C | CTTTCTTT others(19): Show |
8 | a0001c0001t0001g0041 a0001c0001t0001g0056 a0001c0001t0001g0082 others(5): Show |
8 | HG01106.hp1 HG02071.hp2 HG03239.hp1 others(5): Show |
intron_variant | MODIFIER | c.1304-8040_1304-803 others(30): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77529620 | |||||||
chr14:77529620 | C | CTTTCTTT others(20): Show |
5 | a0001c0001t0001g0086 a0001c0001t0001g0177 a0001c0001t0015g0130 others(2): Show |
5 | HG00438.hp2 HG02486.hp1 HG03225.hp2 others(2): Show |
intron_variant | MODIFIER | c.1304-8040_1304-803 others(31): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77529620 | |||||||
chr14:77529620 | C | CTTTCTTT others(21): Show |
3 | a0001c0001t0001g0072 a0001c0001t0001g0133 a0001c0001t0001g0144 |
3 | HG00099.hp2 HG02738.hp2 HG04115.hp2 |
intron_variant | MODIFIER | c.1304-8040_1304-803 others(32): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77529620 | |||||||
chr14:77529620 | C | CTTTCTTT others(22): Show |
2 | a0001c0001t0001g0096 a0001c0001t0009g0084 |
2 | NA18953.hp1 NA18995.hp1 |
intron_variant | MODIFIER | c.1304-8040_1304-803 others(33): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77529620 | |||||||
chr14:77529620 | C | CTTTCTTT others(23): Show |
3 | a0001c0001t0001g0206 a0001c0001t0009g0085 a0001c0001t0032g0205 |
3 | HG01168.hp1 HG01934.hp1 NA19010.hp1 |
intron_variant | MODIFIER | c.1304-8040_1304-803 others(34): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77529620 | |||||||
chr14:77529620 | C | CTTTCTTT others(24): Show |
4 | a0001c0001t0001g0048 a0001c0001t0001g0079 a0001c0001t0001g0098 others(1): Show |
4 | HG01934.hp2 HG01981.hp1 NA18948.hp2 others(1): Show |
intron_variant | MODIFIER | c.1304-8040_1304-803 others(35): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77529620 | |||||||
chr14:77529620 | C | CTTTCTTT others(25): Show |
1 | a0001c0001t0001g0095 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.1304-8040_1304-803 others(36): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77529620 | |||||||
chr14:77529620 | C | CTTTCTTT others(26): Show |
1 | a0001c0001t0001g0077 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.1304-8040_1304-803 others(37): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77529620 | |||||||
chr14:77529620 | C | CTTTCTTT others(27): Show |
2 | a0001c0001t0001g0067 a0001c0001t0001g0088 |
2 | HG00280.hp1 HG01978.hp1 |
intron_variant | MODIFIER | c.1304-8040_1304-803 others(38): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77529620 | |||||||
chr14:77529620 | C | CTTTCTTT others(31): Show |
1 | a0001c0001t0031g0043 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.1304-8040_1304-803 others(42): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77529620 | |||||||
chr14:77529620 | C | CTTTCTTT others(33): Show |
1 | a0001c0001t0001g0208 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.1304-8040_1304-803 others(44): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77529620 | |||||||
chr14:77529620 | C | CTTTCTTT others(37): Show |
1 | a0001c0001t0001g0050 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.1304-8040_1304-803 others(48): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77529620 | |||||||
chr14:77529620 | CT | C | 80 | a0001c0001t0001g0001 a0001c0001t0001g0035 a0001c0001t0001g0036 others(77): Show |
81 | HG00099.hp1 HG00408.hp2 HG00558.hp2 others(78): Show |
intron_variant | MODIFIER | c.1304-8040delA | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77529620 | |||||||
chr14:77529620 | CTT | C | 16 | a0001c0001t0001g0165 a0001c0001t0006g0154 a0001c0001t0008g0118 others(13): Show |
16 | HG00642.hp2 HG00733.hp2 HG00735.hp2 others(13): Show |
intron_variant | MODIFIER | c.1304-8041_1304-804 others(6): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77529620 | |||||||
chr14:77529620 | CTTTT | C | 40 | a0001c0001t0001g0216 a0001c0001t0003g0014 a0001c0001t0003g0015 others(37): Show |
40 | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(37): Show |
intron_variant | MODIFIER | c.1304-8043_1304-804 others(8): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77529620 | |||||||
chr14:77529620 | CTTTTT | C | 5 | a0001c0001t0005g0180 a0001c0001t0030g0160 a0001c0001t0043g0026 others(2): Show |
5 | HG02145.hp2 HG02559.hp1 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.1304-8044_1304-804 others(9): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77529620 | |||||||
chr14:77529624 | T | C | 1 | a0001c0006t0018g0017 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1304-8043A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77529624 | |||||||
chr14:77529651 | G | A | 1 | a0001c0001t0045g0163 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.1304-8070C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77529651 | |||||||
chr14:77529733 | G | A | 4 | a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0013 others(1): Show |
4 | HG02451.hp2 HG02572.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.1304-8152C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77529733 | |||||||
chr14:77529772 | G | A | 44 | a0001c0001t0001g0216 a0001c0001t0003g0014 a0001c0001t0003g0015 others(41): Show |
44 | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(41): Show |
intron_variant | MODIFIER | c.1304-8191C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77529772 | |||||||
chr14:77529814 | G | C | 7 | a0001c0001t0004g0029 a0001c0001t0030g0160 a0001c0001t0043g0026 others(4): Show |
7 | HG01884.hp1 HG02145.hp2 HG02559.hp1 others(4): Show |
intron_variant | MODIFIER | c.1304-8233C>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77529814 | |||||||
chr14:77529874 | G | C | 10 | a0001c0002t0007g0236 a0001c0002t0007g0238 a0001c0002t0007g0239 others(7): Show |
10 | HG02109.hp2 HG02280.hp1 HG02486.hp2 others(7): Show |
intron_variant | MODIFIER | c.1304-8293C>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77529874 | |||||||
chr14:77529898 | A | T | 10 | a0001c0002t0007g0236 a0001c0002t0007g0238 a0001c0002t0007g0239 others(7): Show |
10 | HG02109.hp2 HG02280.hp1 HG02486.hp2 others(7): Show |
intron_variant | MODIFIER | c.1304-8317T>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77529898 | |||||||
chr14:77529987 | C | T | 45 | a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0035 others(42): Show |
46 | HG00099.hp1 HG00408.hp2 HG00438.hp1 others(43): Show |
intron_variant | MODIFIER | c.1304-8406G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77529987 | |||||||
chr14:77530023 | T | A | 7 | a0001c0001t0004g0029 a0001c0001t0030g0160 a0001c0001t0043g0026 others(4): Show |
7 | HG01884.hp1 HG02145.hp2 HG02559.hp1 others(4): Show |
intron_variant | MODIFIER | c.1304-8442A>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77530023 | |||||||
chr14:77530036 | T | C | 1 | a0001c0001t0005g0073 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.1304-8455A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77530036 | |||||||
chr14:77530096 | C | T | 10 | a0001c0001t0002g0070 a0001c0001t0024g0220 a0001c0002t0005g0075 others(7): Show |
10 | HG01891.hp1 HG02109.hp1 HG02572.hp1 others(7): Show |
intron_variant | MODIFIER | c.1304-8515G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77530096 | |||||||
chr14:77530120 | G | A | 1 | a0001c0001t0001g0098 | 1 | NA18948.hp2 | intron_variant | MODIFIER | c.1304-8539C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77530120 | |||||||
chr14:77530181 | A | G | 2 | a0001c0001t0004g0016 a0001c0010t0004g0230 |
2 | HG02809.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.1304-8600T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77530181 | |||||||
chr14:77530310 | CT | C | 11 | a0001c0001t0002g0070 a0001c0001t0024g0220 a0001c0002t0005g0075 others(8): Show |
11 | HG01891.hp1 HG02109.hp1 HG02572.hp1 others(8): Show |
intron_variant | MODIFIER | c.1304-8730delA | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77530310 | |||||||
chr14:77530316 | T | A | 28 | a0001c0001t0001g0216 a0001c0001t0003g0221 a0001c0001t0004g0005 others(25): Show |
28 | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(25): Show |
intron_variant | MODIFIER | c.1304-8735A>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77530316 | |||||||
chr14:77530316 | T | TA | 22 | a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0023 others(19): Show |
22 | HG00558.hp1 HG00642.hp1 HG00738.hp1 others(19): Show |
intron_variant | MODIFIER | c.1304-8736dupT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77530316 | |||||||
chr14:77530316 | TA | T | 94 | a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0035 others(91): Show |
95 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(92): Show |
intron_variant | MODIFIER | c.1304-8736delT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77530316 | |||||||
chr14:77530318 | A | T | 9 | a0001c0002t0007g0236 a0001c0002t0007g0238 a0001c0002t0007g0239 others(6): Show |
9 | HG02109.hp2 HG02280.hp1 HG02486.hp2 others(6): Show |
intron_variant | MODIFIER | c.1304-8737T>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77530318 | |||||||
chr14:77530325 | A | T | 47 | a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0040 others(44): Show |
47 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(44): Show |
intron_variant | MODIFIER | c.1304-8744T>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77530325 | |||||||
chr14:77530327 | A | T | 47 | a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0040 others(44): Show |
47 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(44): Show |
intron_variant | MODIFIER | c.1304-8746T>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77530327 | |||||||
chr14:77530328 | A | AT | 44 | a0001c0001t0001g0216 a0001c0001t0003g0014 a0001c0001t0003g0015 others(41): Show |
44 | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(41): Show |
intron_variant | MODIFIER | c.1304-8748dupA | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77530328 | |||||||
chr14:77530328 | A | T | 7 | a0001c0001t0004g0029 a0001c0001t0030g0160 a0001c0001t0043g0026 others(4): Show |
7 | HG01884.hp1 HG02145.hp2 HG02559.hp1 others(4): Show |
intron_variant | MODIFIER | c.1304-8747T>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77530328 | |||||||
chr14:77530332 | T | C | 1 | a0001c0001t0001g0023 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.1304-8751A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77530332 | |||||||
chr14:77530361 | C | T | 47 | a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0040 others(44): Show |
47 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(44): Show |
intron_variant | MODIFIER | c.1304-8780G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77530361 | |||||||
chr14:77530407 | C | T | 2 | a0001c0004t0004g0190 a0002c0007t0042g0128 |
2 | HG02717.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.1304-8826G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77530407 | |||||||
chr14:77530456 | G | C | 3 | a0001c0006t0018g0017 a0001c0006t0018g0074 a0001c0006t0022g0004 |
3 | HG02559.hp2 HG02922.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.1304-8875C>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77530456 | |||||||
chr14:77530527 | C | T | 4 | a0001c0001t0004g0029 a0001c0001t0043g0026 a0001c0003t0017g0063 others(1): Show |
4 | HG01884.hp1 HG03098.hp2 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.1304-8946G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77530527 | |||||||
chr14:77530715 | T | C | 51 | a0001c0001t0001g0216 a0001c0001t0003g0014 a0001c0001t0003g0015 others(48): Show |
51 | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(48): Show |
intron_variant | MODIFIER | c.1304-9134A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77530715 | |||||||
chr14:77530790 | G | A | 1 | a0001c0001t0001g0092 | 1 | NA18981.hp2 | intron_variant | MODIFIER | c.1304-9209C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77530790 | |||||||
chr14:77530791 | A | C | 1 | a0001c0001t0001g0092 | 1 | NA18981.hp2 | intron_variant | MODIFIER | c.1304-9210T>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77530791 | |||||||
chr14:77530792 | C | T | 1 | a0001c0001t0001g0092 | 1 | NA18981.hp2 | intron_variant | MODIFIER | c.1304-9211G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77530792 | |||||||
chr14:77530804 | CAAT | C | 12 | a0001c0001t0001g0216 a0001c0001t0004g0005 a0001c0001t0004g0006 others(9): Show |
12 | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(9): Show |
intron_variant | MODIFIER | c.1304-9226_1304-922 others(7): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77530804 | |||||||
chr14:77530861 | T | C | 51 | a0001c0001t0001g0216 a0001c0001t0003g0014 a0001c0001t0003g0015 others(48): Show |
51 | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(48): Show |
intron_variant | MODIFIER | c.1304-9280A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77530861 | |||||||
chr14:77530900 | T | C | 1 | a0001c0001t0003g0221 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.1304-9319A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77530900 | |||||||
chr14:77530989 | C | T | 2 | a0001c0002t0007g0239 a0001c0002t0017g0214 |
2 | HG02280.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.1304-9408G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77530989 | |||||||
chr14:77531278 | G | A | 47 | a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0040 others(44): Show |
47 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(44): Show |
intron_variant | MODIFIER | c.1304-9697C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531278 | |||||||
chr14:77531292 | A | T | 1 | a0001c0001t0001g0229 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.1304-9711T>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531292 | |||||||
chr14:77531294 | C | T | 1 | a0001c0001t0005g0182 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.1304-9713G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531294 | |||||||
chr14:77531349 | G | C | 1 | a0001c0003t0017g0063 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.1304-9768C>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531349 | |||||||
chr14:77531395 | G | GTTTT | 5 | a0001c0001t0001g0216 a0001c0001t0004g0228 a0001c0001t0005g0045 others(2): Show |
5 | HG00280.hp2 HG01167.hp2 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.1304-9815_1304-981 others(8): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531395 | |||||||
chr14:77531398 | A | T | 11 | a0001c0001t0001g0216 a0001c0001t0004g0005 a0001c0001t0004g0006 others(8): Show |
11 | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(8): Show |
intron_variant | MODIFIER | c.1304-9817T>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531398 | |||||||
chr14:77531399 | T | TTTTTTTC others(67): Show |
1 | a0001c0008t0033g0049 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.1304-9819_1304-981 others(78): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531399 | |||||||
chr14:77531399 | T | TTTTTTTC others(73): Show |
1 | a0001c0001t0004g0110 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.1304-9819_1304-981 others(84): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531399 | |||||||
chr14:77531399 | T | TTTTTTTC others(70): Show |
2 | a0001c0001t0004g0007 a0001c0001t0004g0008 |
2 | HG01256.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.1304-9819_1304-981 others(81): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531399 | |||||||
chr14:77531399 | T | TTTTTTTC others(73): Show |
2 | a0001c0001t0004g0005 a0001c0001t0004g0006 |
2 | HG01069.hp1 HG01071.hp2 |
intron_variant | MODIFIER | c.1304-9819_1304-981 others(84): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531399 | |||||||
chr14:77531406 | A | T | 11 | a0001c0001t0001g0216 a0001c0001t0004g0005 a0001c0001t0004g0006 others(8): Show |
11 | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(8): Show |
intron_variant | MODIFIER | c.1304-9825T>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531406 | |||||||
chr14:77531407 | C | T | 11 | a0001c0001t0001g0216 a0001c0001t0004g0005 a0001c0001t0004g0006 others(8): Show |
11 | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(8): Show |
intron_variant | MODIFIER | c.1304-9826G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531407 | |||||||
chr14:77531408 | A | C | 11 | a0001c0001t0001g0216 a0001c0001t0004g0005 a0001c0001t0004g0006 others(8): Show |
11 | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(8): Show |
intron_variant | MODIFIER | c.1304-9827T>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531408 | |||||||
chr14:77531409 | G | T | 11 | a0001c0001t0001g0216 a0001c0001t0004g0005 a0001c0001t0004g0006 others(8): Show |
11 | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(8): Show |
intron_variant | MODIFIER | c.1304-9828C>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531409 | |||||||
chr14:77531410 | G | T | 11 | a0001c0001t0001g0216 a0001c0001t0004g0005 a0001c0001t0004g0006 others(8): Show |
11 | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(8): Show |
intron_variant | MODIFIER | c.1304-9829C>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531410 | |||||||
chr14:77531411 | G | C | 11 | a0001c0001t0001g0216 a0001c0001t0004g0005 a0001c0001t0004g0006 others(8): Show |
11 | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(8): Show |
intron_variant | MODIFIER | c.1304-9830C>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531411 | |||||||
chr14:77531412 | A | T | 11 | a0001c0001t0001g0216 a0001c0001t0004g0005 a0001c0001t0004g0006 others(8): Show |
11 | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(8): Show |
intron_variant | MODIFIER | c.1304-9831T>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531412 | |||||||
chr14:77531413 | C | T | 11 | a0001c0001t0001g0216 a0001c0001t0004g0005 a0001c0001t0004g0006 others(8): Show |
11 | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(8): Show |
intron_variant | MODIFIER | c.1304-9832G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531413 | |||||||
chr14:77531414 | C | CTT | 5 | a0001c0001t0001g0216 a0001c0001t0004g0228 a0001c0001t0005g0045 others(2): Show |
5 | HG00280.hp2 HG01167.hp2 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.1304-9834_1304-983 others(6): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531414 | |||||||
chr14:77531415 | A | C | 5 | a0001c0001t0001g0216 a0001c0001t0004g0228 a0001c0001t0005g0045 others(2): Show |
5 | HG00280.hp2 HG01167.hp2 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.1304-9834T>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531415 | |||||||
chr14:77531415 | A | T | 6 | a0001c0001t0004g0005 a0001c0001t0004g0006 a0001c0001t0004g0007 others(3): Show |
6 | HG00323.hp2 HG01069.hp1 HG01071.hp2 others(3): Show |
intron_variant | MODIFIER | c.1304-9834T>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531415 | |||||||
chr14:77531417 | G | C | 6 | a0001c0001t0004g0005 a0001c0001t0004g0006 a0001c0001t0004g0007 others(3): Show |
6 | HG00323.hp2 HG01069.hp1 HG01071.hp2 others(3): Show |
intron_variant | MODIFIER | c.1304-9836C>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531417 | |||||||
chr14:77531417 | G | T | 5 | a0001c0001t0001g0216 a0001c0001t0004g0228 a0001c0001t0005g0045 others(2): Show |
5 | HG00280.hp2 HG01167.hp2 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.1304-9836C>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531417 | |||||||
chr14:77531418 | A | C | 5 | a0001c0001t0001g0216 a0001c0001t0004g0228 a0001c0001t0005g0045 others(2): Show |
5 | HG00280.hp2 HG01167.hp2 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.1304-9837T>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531418 | |||||||
chr14:77531418 | A | T | 6 | a0001c0001t0004g0005 a0001c0001t0004g0006 a0001c0001t0004g0007 others(3): Show |
6 | HG00323.hp2 HG01069.hp1 HG01071.hp2 others(3): Show |
intron_variant | MODIFIER | c.1304-9837T>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531418 | |||||||
chr14:77531419 | C | T | 11 | a0001c0001t0001g0216 a0001c0001t0004g0005 a0001c0001t0004g0006 others(8): Show |
11 | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(8): Show |
intron_variant | MODIFIER | c.1304-9838G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531419 | |||||||
chr14:77531420 | T | C | 6 | a0001c0001t0004g0005 a0001c0001t0004g0006 a0001c0001t0004g0007 others(3): Show |
6 | HG00323.hp2 HG01069.hp1 HG01071.hp2 others(3): Show |
intron_variant | MODIFIER | c.1304-9839A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531420 | |||||||
chr14:77531420 | T | TTTCTTCT others(5): Show |
2 | a0001c0001t0024g0220 a0001c0009t0004g0062 |
2 | HG02622.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.1304-9851_1304-984 others(16): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531420 | |||||||
chr14:77531420 | T | TTTCTTCT others(8): Show |
5 | a0001c0002t0005g0075 a0001c0002t0005g0076 a0001c0002t0010g0065 others(2): Show |
5 | HG01891.hp1 HG02818.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.1304-9854_1304-984 others(19): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531420 | |||||||
chr14:77531420 | T | TTTCTTCT others(11): Show |
1 | a0001c0001t0002g0070 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.1304-9857_1304-984 others(22): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531420 | |||||||
chr14:77531420 | TTTC | T | 11 | a0001c0001t0001g0139 a0001c0001t0001g0171 a0001c0001t0001g0217 others(8): Show |
11 | HG00733.hp1 HG01069.hp2 HG01243.hp2 others(8): Show |
intron_variant | MODIFIER | c.1304-9842_1304-984 others(7): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531420 | |||||||
chr14:77531420 | TTTCTTCT others(2): Show |
T | 4 | a0001c0002t0028g0173 a0001c0003t0001g0011 a0001c0003t0001g0013 others(1): Show |
4 | HG02451.hp2 HG03041.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.1304-9848_1304-984 others(13): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531420 | |||||||
chr14:77531434 | TCTTCTTC others(35): Show |
T | 1 | a0001c0003t0001g0012 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.1304-9895_1304-985 others(46): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531434 | |||||||
chr14:77531443 | T | C | 1 | a0001c0008t0033g0049 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.1304-9862A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531443 | |||||||
chr14:77531443 | T | TCTTCTTC others(2): Show |
5 | a0001c0001t0004g0029 a0001c0001t0030g0160 a0001c0003t0023g0132 others(2): Show |
5 | HG01884.hp1 HG02145.hp2 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.1304-9863_1304-986 others(13): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531443 | |||||||
chr14:77531443 | T | TCTTCTTC others(8): Show |
2 | a0001c0001t0043g0026 a0001c0003t0017g0063 |
2 | HG03098.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.1304-9863_1304-986 others(19): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531443 | |||||||
chr14:77531443 | T | TCTTCTTC others(56): Show |
3 | a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0025g0019 |
3 | HG02970.hp2 HG02976.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.1304-9863_1304-986 others(67): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531443 | |||||||
chr14:77531443 | T | TCTTCTTC others(35): Show |
2 | a0001c0001t0021g0003 a0001c0001t0026g0159 |
2 | HG01081.hp2 HG02145.hp1 |
intron_variant | MODIFIER | c.1304-9863_1304-986 others(46): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531443 | |||||||
chr14:77531443 | T | TCTTCTTC others(38): Show |
3 | a0001c0001t0012g0225 a0001c0001t0046g0233 a0001c0001t0049g0232 |
3 | HG01358.hp2 HG03654.hp1 HG04115.hp1 |
intron_variant | MODIFIER | c.1304-9863_1304-986 others(49): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531443 | |||||||
chr14:77531443 | T | TCTTCTTC others(41): Show |
1 | a0001c0001t0048g0234 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.1304-9863_1304-986 others(52): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531443 | |||||||
chr14:77531443 | T | TCTTCTTC others(44): Show |
2 | a0001c0001t0012g0227 a0001c0001t0047g0231 |
2 | HG02738.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.1304-9863_1304-986 others(55): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531443 | |||||||
chr14:77531443 | T | TCTTCTTC others(62): Show |
2 | a0001c0002t0003g0032 a0001c0002t0003g0061 |
2 | HG01358.hp1 HG01975.hp1 |
intron_variant | MODIFIER | c.1304-9863_1304-986 others(73): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531443 | |||||||
chr14:77531443 | T | TCTTCTTC others(29): Show |
1 | a0001c0011t0041g0078 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.1304-9863_1304-986 others(40): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531443 | |||||||
chr14:77531443 | T | TCTTCTTC others(85): Show |
1 | a0001c0001t0001g0216 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.1304-9863_1304-986 others(96): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531443 | |||||||
chr14:77531443 | T | TCTTCTTC others(91): Show |
1 | a0001c0001t0005g0175 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.1304-9863_1304-986 others(102): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531443 | |||||||
chr14:77531443 | T | TCTTCTTC others(82): Show |
1 | a0001c0001t0005g0180 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1304-9863_1304-986 others(93): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531443 | |||||||
chr14:77531443 | T | TCTTCTTC others(82): Show |
1 | a0001c0001t0005g0045 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.1304-9863_1304-986 others(93): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531443 | |||||||
chr14:77531443 | T | TCTTCTTC others(91): Show |
1 | a0001c0001t0004g0228 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.1304-9863_1304-986 others(102): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531443 | |||||||
chr14:77531445 | T | TTCTTCTT others(50): Show |
2 | a0001c0001t0003g0189 a0001c0001t0019g0245 |
2 | HG02647.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.1304-9865_1304-986 others(61): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531445 | |||||||
chr14:77531445 | T | TTCTTCTT others(47): Show |
1 | a0001c0001t0003g0221 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.1304-9865_1304-986 others(58): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531445 | |||||||
chr14:77531445 | T | TTCTTCTT others(53): Show |
1 | a0001c0001t0045g0163 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.1304-9865_1304-986 others(64): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531445 | |||||||
chr14:77531446 | C | T | 15 | a0001c0001t0003g0064 a0001c0001t0003g0226 a0001c0001t0004g0016 others(12): Show |
15 | HG01884.hp2 HG02293.hp2 HG02602.hp1 others(12): Show |
intron_variant | MODIFIER | c.1304-9865G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531446 | |||||||
chr14:77531448 | T | C | 2 | a0001c0002t0003g0032 a0001c0002t0003g0061 |
2 | HG01358.hp1 HG01975.hp1 |
intron_variant | MODIFIER | c.1304-9867A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531448 | |||||||
chr14:77531449 | C | T | 15 | a0001c0001t0003g0064 a0001c0001t0003g0226 a0001c0001t0004g0016 others(12): Show |
15 | HG01884.hp2 HG02293.hp2 HG02602.hp1 others(12): Show |
intron_variant | MODIFIER | c.1304-9868G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531449 | |||||||
chr14:77531452 | T | C | 28 | a0001c0001t0001g0216 a0001c0001t0003g0014 a0001c0001t0003g0015 others(25): Show |
28 | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(25): Show |
intron_variant | MODIFIER | c.1304-9871A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531452 | |||||||
chr14:77531452 | T | TCTC | 7 | a0001c0001t0004g0029 a0001c0001t0030g0160 a0001c0001t0043g0026 others(4): Show |
7 | HG01884.hp1 HG02145.hp2 HG02559.hp1 others(4): Show |
intron_variant | MODIFIER | c.1304-9874_1304-987 others(7): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531452 | |||||||
chr14:77531457 | T | C | 17 | a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0189 others(14): Show |
17 | HG01081.hp2 HG01168.hp2 HG01358.hp1 others(14): Show |
intron_variant | MODIFIER | c.1304-9876A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531457 | |||||||
chr14:77531460 | T | TCCTCCTC others(11): Show |
1 | a0002c0007t0042g0128 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.1304-9880_1304-987 others(22): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531460 | |||||||
chr14:77531463 | T | C | 22 | a0001c0001t0001g0216 a0001c0001t0003g0014 a0001c0001t0003g0015 others(19): Show |
22 | HG00280.hp2 HG01081.hp2 HG01167.hp2 others(19): Show |
intron_variant | MODIFIER | c.1304-9882A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531463 | |||||||
chr14:77531463 | T | TTCTCCTC others(26): Show |
2 | a0001c0001t0005g0178 a0001c0001t0005g0181 |
2 | HG02293.hp2 HG04228.hp2 |
intron_variant | MODIFIER | c.1304-9883_1304-988 others(37): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531463 | |||||||
chr14:77531463 | T | TTCTCCTC others(29): Show |
13 | a0001c0001t0003g0064 a0001c0001t0003g0226 a0001c0001t0004g0016 others(10): Show |
13 | HG01884.hp2 HG02602.hp1 HG02622.hp2 others(10): Show |
intron_variant | MODIFIER | c.1304-9883_1304-988 others(40): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531463 | |||||||
chr14:77531469 | T | C | 5 | a0001c0001t0001g0216 a0001c0001t0004g0228 a0001c0001t0005g0045 others(2): Show |
5 | HG00280.hp2 HG01167.hp2 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.1304-9888A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531469 | |||||||
chr14:77531469 | T | TCCTCCTC others(8): Show |
1 | a0001c0001t0004g0110 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.1304-9889_1304-988 others(19): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531469 | |||||||
chr14:77531469 | T | TCCTCCTC others(14): Show |
4 | a0001c0001t0004g0005 a0001c0001t0004g0006 a0001c0001t0004g0007 others(1): Show |
4 | HG01069.hp1 HG01071.hp2 HG01256.hp2 others(1): Show |
intron_variant | MODIFIER | c.1304-9889_1304-988 others(25): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531469 | |||||||
chr14:77531469 | TCCTCCC | T | 4 | a0001c0001t0001g0139 a0001c0001t0001g0171 a0001c0001t0016g0068 others(1): Show |
4 | HG01069.hp2 HG01243.hp2 HG01516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1304-9894_1304-988 others(10): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531469 | |||||||
chr14:77531472 | T | C | 1 | a0001c0001t0001g0129 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1304-9891A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531472 | |||||||
chr14:77531475 | C | T | 2 | a0001c0001t0001g0129 a0002c0007t0042g0128 |
2 | NA18522.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1304-9894G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531475 | |||||||
chr14:77531478 | T | C | 1 | a0001c0001t0001g0129 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1304-9897A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531478 | |||||||
chr14:77531481 | C | CCCT | 11 | a0001c0002t0002g0025 a0001c0002t0002g0192 a0001c0002t0002g0197 others(8): Show |
11 | HG01243.hp1 HG02257.hp2 HG02622.hp1 others(8): Show |
intron_variant | MODIFIER | c.1304-9903_1304-990 others(7): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531481 | |||||||
chr14:77531481 | C | T | 3 | a0001c0001t0001g0129 a0001c0003t0001g0012 a0002c0007t0042g0128 |
3 | HG02572.hp2 NA18522.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1304-9900G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531481 | |||||||
chr14:77531484 | T | C | 1 | a0001c0005t0037g0055 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.1304-9903A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531484 | |||||||
chr14:77531485 | C | T | 1 | a0001c0003t0001g0012 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.1304-9904G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531485 | |||||||
chr14:77531487 | T | C | 14 | a0001c0001t0001g0018 a0001c0001t0001g0216 a0001c0001t0004g0005 others(11): Show |
14 | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(11): Show |
intron_variant | MODIFIER | c.1304-9906A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531487 | |||||||
chr14:77531493 | T | C | 2 | a0001c0008t0033g0049 a0001c0011t0041g0078 |
2 | HG01123.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.1304-9912A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531493 | |||||||
chr14:77531501 | C | T | 1 | a0001c0005t0038g0138 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.1304-9920G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531501 | |||||||
chr14:77531504 | C | CTCT | 15 | a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0189 others(12): Show |
15 | HG01358.hp1 HG01358.hp2 HG01975.hp1 others(12): Show |
intron_variant | MODIFIER | c.1304-9924_1304-992 others(7): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531504 | |||||||
chr14:77531504 | C | CTCTTCT | 22 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0004g0029 others(19): Show |
22 | HG00408.hp1 HG00642.hp2 HG00735.hp2 others(19): Show |
intron_variant | MODIFIER | c.1304-9924_1304-992 others(10): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531504 | |||||||
chr14:77531504 | C | T | 13 | a0001c0001t0001g0216 a0001c0001t0003g0064 a0001c0001t0004g0005 others(10): Show |
13 | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(10): Show |
intron_variant | MODIFIER | c.1304-9923G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531504 | |||||||
chr14:77531507 | C | CTCT | 56 | a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0035 others(53): Show |
57 | HG00099.hp1 HG00408.hp2 HG00438.hp1 others(54): Show |
intron_variant | MODIFIER | c.1304-9929_1304-992 others(7): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531507 | |||||||
chr14:77531507 | C | CTCTTCT | 18 | a0001c0001t0003g0221 a0001c0001t0003g0226 a0001c0001t0004g0016 others(15): Show |
18 | HG01081.hp2 HG01123.hp1 HG01168.hp2 others(15): Show |
intron_variant | MODIFIER | c.1304-9932_1304-992 others(10): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531507 | |||||||
chr14:77531507 | C | T | 141 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0018 others(138): Show |
141 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(138): Show |
intron_variant | MODIFIER | c.1304-9926G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531507 | |||||||
chr14:77531533 | G | C | 1 | a0001c0001t0003g0064 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1304-9952C>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531533 | |||||||
chr14:77531543 | T | C | 1 | a0001c0001t0003g0064 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1304-9962A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531543 | |||||||
chr14:77531567 | G | C | 1 | a0001c0001t0045g0163 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.1304-9986C>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531567 | |||||||
chr14:77531590 | C | T | 1 | a0001c0005t0007g0242 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.1304-10009G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531590 | |||||||
chr14:77531772 | A | T | 9 | a0001c0001t0002g0070 a0001c0001t0024g0220 a0001c0002t0005g0075 others(6): Show |
9 | HG01891.hp1 HG02109.hp1 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.1304-10191T>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77531772 | |||||||
chr14:77532285 | T | C | 4 | a0001c0001t0004g0029 a0001c0001t0043g0026 a0001c0003t0017g0063 others(1): Show |
4 | HG01884.hp1 HG03098.hp2 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.1304-10704A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77532285 | |||||||
chr14:77532293 | T | C | 1 | a0001c0001t0001g0146 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.1304-10712A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77532293 | |||||||
chr14:77532338 | T | C | 1 | a0001c0004t0004g0190 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.1304-10757A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77532338 | |||||||
chr14:77532454 | G | A | 42 | a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0035 others(39): Show |
43 | HG00099.hp1 HG00408.hp2 HG00438.hp1 others(40): Show |
intron_variant | MODIFIER | c.1304-10873C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77532454 | |||||||
chr14:77532507 | G | A | 3 | a0001c0006t0018g0017 a0001c0006t0018g0074 a0001c0006t0022g0004 |
3 | HG02559.hp2 HG02922.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.1304-10926C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77532507 | |||||||
chr14:77532512 | C | T | 2 | a0001c0002t0003g0032 a0001c0002t0003g0061 |
2 | HG01358.hp1 HG01975.hp1 |
intron_variant | MODIFIER | c.1304-10931G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77532512 | |||||||
chr14:77532551 | G | A | 6 | a0001c0001t0004g0029 a0001c0001t0030g0160 a0001c0001t0043g0026 others(3): Show |
6 | HG01884.hp1 HG02145.hp2 HG02559.hp1 others(3): Show |
intron_variant | MODIFIER | c.1304-10970C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77532551 | |||||||
chr14:77532652 | C | T | 1 | a0001c0001t0001g0091 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.1304-11071G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77532652 | |||||||
chr14:77532653 | A | G | 1 | a0001c0001t0001g0091 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.1304-11072T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77532653 | |||||||
chr14:77532691 | G | A | 1 | a0001c0001t0001g0177 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.1304-11110C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77532691 | |||||||
chr14:77532715 | C | T | 19 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0006g0154 others(16): Show |
19 | HG00408.hp1 HG00642.hp2 HG00735.hp2 others(16): Show |
intron_variant | MODIFIER | c.1304-11134G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77532715 | |||||||
chr14:77532732 | C | G | 11 | a0001c0001t0001g0139 a0001c0001t0001g0171 a0001c0001t0001g0217 others(8): Show |
11 | HG00733.hp1 HG01069.hp2 HG01243.hp2 others(8): Show |
intron_variant | MODIFIER | c.1304-11151G>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77532732 | |||||||
chr14:77532740 | T | C | 2 | a0001c0001t0001g0001 a0001c0001t0001g0039 |
3 | HG01515.hp1 HG01516.hp2 HG01517.hp1 |
intron_variant | MODIFIER | c.1304-11159A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77532740 | |||||||
chr14:77532757 | C | A | 1 | a0001c0001t0036g0083 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.1304-11176G>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77532757 | |||||||
chr14:77532802 | TAA | T | 3 | a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0167 |
3 | HG01257.hp2 HG01258.hp2 HG03017.hp1 |
intron_variant | MODIFIER | c.1304-11223_1304-11 others(8): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77532802 | |||||||
chr14:77532813 | AAAT | A | 3 | a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0167 |
3 | HG01257.hp2 HG01258.hp2 HG03017.hp1 |
intron_variant | MODIFIER | c.1304-11235_1304-11 others(9): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77532813 | |||||||
chr14:77532816 | T | TA | 114 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0022 others(111): Show |
115 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(112): Show |
intron_variant | MODIFIER | c.1304-11236dupT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77532816 | |||||||
chr14:77532847 | T | C | 225 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(222): Show |
226 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(223): Show |
intron_variant | MODIFIER | c.1304-11266A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77532847 | |||||||
chr14:77533062 | C | T | 2 | a0001c0001t0003g0189 a0001c0001t0019g0245 |
2 | HG02647.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.1304-11481G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77533062 | |||||||
chr14:77533157 | G | A | 1 | a0002c0007t0042g0128 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.1304-11576C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77533157 | |||||||
chr14:77533159 | G | A | 3 | a0001c0006t0018g0017 a0001c0006t0018g0074 a0001c0006t0022g0004 |
3 | HG02559.hp2 HG02922.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.1304-11578C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77533159 | |||||||
chr14:77533161 | G | A | 42 | a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0036 others(39): Show |
43 | HG00408.hp2 HG00438.hp1 HG00558.hp2 others(40): Show |
intron_variant | MODIFIER | c.1304-11580C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77533161 | |||||||
chr14:77533191 | T | G | 1 | a0001c0001t0005g0127 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.1304-11610A>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77533191 | |||||||
chr14:77533261 | T | C | 40 | a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0024 others(37): Show |
40 | HG00558.hp1 HG00642.hp1 HG00733.hp1 others(37): Show |
intron_variant | MODIFIER | c.1304-11680A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77533261 | |||||||
chr14:77533275 | G | A | 2 | a0001c0002t0003g0032 a0001c0002t0003g0061 |
2 | HG01358.hp1 HG01975.hp1 |
intron_variant | MODIFIER | c.1304-11694C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77533275 | |||||||
chr14:77533300 | C | CA | 19 | a0001c0001t0001g0042 a0001c0001t0001g0058 a0001c0001t0001g0129 others(16): Show |
19 | HG00558.hp1 HG00735.hp2 HG01978.hp2 others(16): Show |
intron_variant | MODIFIER | c.1304-11720dupT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77533300 | |||||||
chr14:77533300 | CA | C | 57 | a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0069 others(54): Show |
57 | HG00280.hp2 HG00323.hp2 HG00741.hp2 others(54): Show |
intron_variant | MODIFIER | c.1304-11720delT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77533300 | |||||||
chr14:77533300 | CAA | C | 41 | a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0040 others(38): Show |
41 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(38): Show |
intron_variant | MODIFIER | c.1304-11721_1304-11 others(8): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77533300 | |||||||
chr14:77533374 | C | G | 3 | a0001c0006t0018g0017 a0001c0006t0018g0074 a0001c0006t0022g0004 |
3 | HG02559.hp2 HG02922.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.1304-11793G>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77533374 | |||||||
chr14:77533438 | C | T | 54 | a0001c0001t0001g0041 a0001c0001t0001g0216 a0001c0001t0002g0070 others(51): Show |
54 | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(51): Show |
intron_variant | MODIFIER | c.1304-11857G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77533438 | |||||||
chr14:77533560 | G | A | 9 | a0001c0002t0007g0236 a0001c0002t0007g0238 a0001c0002t0007g0239 others(6): Show |
9 | HG02109.hp2 HG02280.hp1 HG02486.hp2 others(6): Show |
intron_variant | MODIFIER | c.1304-11979C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77533560 | |||||||
chr14:77533893 | C | T | 2 | a0001c0001t0001g0018 a0001c0001t0050g0237 |
2 | HG03225.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.1304-12312G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77533893 | |||||||
chr14:77533896 | G | A | 1 | a0001c0001t0043g0026 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1304-12315C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77533896 | |||||||
chr14:77533935 | G | A | 48 | a0001c0001t0001g0041 a0001c0001t0001g0216 a0001c0001t0002g0070 others(45): Show |
48 | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(45): Show |
intron_variant | MODIFIER | c.1304-12354C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77533935 | |||||||
chr14:77533977 | G | A | 9 | a0001c0002t0007g0236 a0001c0002t0007g0238 a0001c0002t0007g0239 others(6): Show |
9 | HG02109.hp2 HG02280.hp1 HG02486.hp2 others(6): Show |
intron_variant | MODIFIER | c.1304-12396C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77533977 | |||||||
chr14:77533988 | G | A | 54 | a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0036 others(51): Show |
55 | HG00099.hp1 HG00408.hp2 HG00438.hp1 others(52): Show |
intron_variant | MODIFIER | c.1304-12407C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77533988 | |||||||
chr14:77534118 | G | A | 8 | a0001c0001t0024g0220 a0001c0002t0005g0075 a0001c0002t0005g0076 others(5): Show |
8 | HG01891.hp1 HG02572.hp1 HG02615.hp1 others(5): Show |
intron_variant | MODIFIER | c.1304-12537C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77534118 | |||||||
chr14:77534161 | CTCTT | C | 3 | a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0167 |
3 | HG01257.hp2 HG01258.hp2 HG03017.hp1 |
intron_variant | MODIFIER | c.1304-12584_1304-12 others(10): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77534161 | |||||||
chr14:77534164 | TTTCTCTC others(11): Show |
T | 3 | a0001c0001t0024g0220 a0001c0002t0010g0065 a0001c0002t0010g0066 |
3 | HG01891.hp1 HG02818.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.1304-12601_1304-12 others(24): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77534164 | |||||||
chr14:77534164 | TTTCTCTC others(13): Show |
T | 5 | a0001c0002t0005g0075 a0001c0002t0005g0076 a0001c0002t0005g0187 others(2): Show |
5 | HG02572.hp1 HG02615.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.1304-12603_1304-12 others(26): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77534164 | |||||||
chr14:77534165 | T | C | 8 | a0001c0001t0001g0139 a0001c0001t0001g0171 a0001c0001t0001g0217 others(5): Show |
8 | HG00733.hp1 HG01069.hp2 HG01243.hp2 others(5): Show |
intron_variant | MODIFIER | c.1304-12584A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77534165 | |||||||
chr14:77534165 | TTC | T | 13 | a0001c0001t0050g0237 a0001c0002t0007g0236 a0001c0002t0007g0238 others(10): Show |
13 | HG02109.hp2 HG02280.hp1 HG02486.hp2 others(10): Show |
intron_variant | MODIFIER | c.1304-12586_1304-12 others(8): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77534165 | |||||||
chr14:77534176 | TCTCACA | T | 8 | a0001c0001t0001g0139 a0001c0001t0001g0171 a0001c0001t0001g0217 others(5): Show |
8 | HG00733.hp1 HG01069.hp2 HG01243.hp2 others(5): Show |
intron_variant | MODIFIER | c.1304-12601_1304-12 others(12): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77534176 | |||||||
chr14:77534176 | TCTCACAC others(1): Show |
T | 5 | a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0145 others(2): Show |
5 | HG00621.hp2 HG01928.hp1 NA18747.hp2 others(2): Show |
intron_variant | MODIFIER | c.1304-12603_1304-12 others(14): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77534176 | |||||||
chr14:77534176 | TCTCACAC others(3): Show |
T | 38 | a0001c0001t0001g0001 a0001c0001t0001g0036 a0001c0001t0001g0037 others(35): Show |
39 | HG00099.hp1 HG00408.hp2 HG00558.hp2 others(36): Show |
intron_variant | MODIFIER | c.1304-12605_1304-12 others(16): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77534176 | |||||||
chr14:77534178 | T | A | 9 | a0001c0001t0001g0018 a0001c0001t0002g0070 a0001c0001t0003g0226 others(6): Show |
9 | HG01081.hp2 HG01167.hp2 HG01358.hp1 others(6): Show |
intron_variant | MODIFIER | c.1304-12597A>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77534178 | |||||||
chr14:77534178 | T | TCA | 4 | a0001c0002t0002g0025 a0001c0002t0002g0195 a0001c0002t0002g0201 others(1): Show |
4 | HG01243.hp1 HG02818.hp1 HG02922.hp2 others(1): Show |
intron_variant | MODIFIER | c.1304-12599_1304-12 others(8): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77534178 | |||||||
chr14:77534178 | TCA | T | 23 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0206 others(20): Show |
23 | HG00323.hp1 HG00408.hp1 HG00741.hp1 others(20): Show |
intron_variant | MODIFIER | c.1304-12599_1304-12 others(8): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77534178 | |||||||
chr14:77534178 | TCACA | T | 28 | a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0023 others(25): Show |
28 | HG00558.hp1 HG00642.hp1 HG00738.hp1 others(25): Show |
intron_variant | MODIFIER | c.1304-12601_1304-12 others(10): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77534178 | |||||||
chr14:77534178 | TCACACA | T | 9 | a0001c0001t0001g0041 a0001c0001t0001g0092 a0001c0001t0012g0225 others(6): Show |
9 | HG01358.hp2 HG02071.hp2 HG02738.hp1 others(6): Show |
intron_variant | MODIFIER | c.1304-12603_1304-12 others(12): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77534178 | |||||||
chr14:77534178 | TCACACAC others(1): Show |
T | 32 | a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0048 others(29): Show |
32 | HG00099.hp2 HG00438.hp2 HG01106.hp1 others(29): Show |
intron_variant | MODIFIER | c.1304-12605_1304-12 others(14): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77534178 | |||||||
chr14:77534178 | TCACACAC others(3): Show |
T | 2 | a0001c0001t0001g0030 a0001c0001t0036g0083 |
2 | HG00438.hp1 HG02602.hp2 |
intron_variant | MODIFIER | c.1304-12607_1304-12 others(16): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77534178 | |||||||
chr14:77534178 | TCACACAC others(9): Show |
T | 2 | a0001c0001t0001g0046 a0001c0001t0001g0107 |
2 | HG03710.hp2 HG04199.hp1 |
intron_variant | MODIFIER | c.1304-12613_1304-12 others(22): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77534178 | |||||||
chr14:77534180 | A | T | 3 | a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0167 |
3 | HG01257.hp2 HG01258.hp2 HG03017.hp1 |
intron_variant | MODIFIER | c.1304-12599T>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77534180 | |||||||
chr14:77534184 | A | T | 5 | a0001c0001t0024g0220 a0001c0002t0010g0065 a0001c0002t0010g0066 others(2): Show |
5 | HG01891.hp1 HG02559.hp1 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.1304-12603T>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77534184 | |||||||
chr14:77534186 | A | T | 5 | a0001c0002t0005g0075 a0001c0002t0005g0076 a0001c0002t0005g0187 others(2): Show |
5 | HG02572.hp1 HG02615.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.1304-12605T>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77534186 | |||||||
chr14:77534188 | A | T | 1 | a0001c0003t0017g0063 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.1304-12607T>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77534188 | |||||||
chr14:77534216 | A | ACACACAC others(5): Show |
4 | a0001c0001t0003g0064 a0001c0001t0005g0127 a0001c0001t0005g0178 others(1): Show |
4 | HG01884.hp2 HG02293.hp2 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.1304-12636_1304-12 others(18): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77534216 | |||||||
chr14:77534216 | A | ACACACAC others(3): Show |
1 | a0001c0001t0004g0016 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1304-12636_1304-12 others(16): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77534216 | |||||||
chr14:77534216 | A | ACACACAC others(1): Show |
3 | a0001c0001t0002g0070 a0001c0001t0005g0179 a0001c0001t0005g0181 |
3 | HG02109.hp1 HG02602.hp1 HG04228.hp2 |
intron_variant | MODIFIER | c.1304-12636_1304-12 others(14): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77534216 | |||||||
chr14:77534216 | A | ACACACG | 6 | a0001c0001t0001g0216 a0001c0001t0005g0073 a0001c0001t0005g0223 others(3): Show |
6 | HG00280.hp2 HG01358.hp1 HG01975.hp1 others(3): Show |
intron_variant | MODIFIER | c.1304-12636_1304-12 others(12): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77534216 | |||||||
chr14:77534216 | A | ACACG | 9 | a0001c0001t0004g0228 a0001c0001t0005g0045 a0001c0001t0021g0003 others(6): Show |
9 | HG01081.hp2 HG02145.hp1 HG02165.hp1 others(6): Show |
intron_variant | MODIFIER | c.1304-12636_1304-12 others(10): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77534216 | |||||||
chr14:77534216 | A | ACG | 16 | a0001c0001t0002g0071 a0001c0001t0003g0014 a0001c0001t0003g0015 others(13): Show |
16 | HG00323.hp2 HG01069.hp1 HG01071.hp2 others(13): Show |
intron_variant | MODIFIER | c.1304-12636_1304-12 others(8): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77534216 | |||||||
chr14:77534216 | A | G | 186 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(183): Show |
187 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(184): Show |
intron_variant | MODIFIER | c.1304-12635T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77534216 | |||||||
chr14:77534270 | T | C | 1 | a0001c0001t0039g0100 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1304-12689A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77534270 | |||||||
chr14:77534424 | T | C | 47 | a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0040 others(44): Show |
47 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(44): Show |
intron_variant | MODIFIER | c.1304-12843A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77534424 | |||||||
chr14:77534429 | T | G | 36 | a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0023 others(33): Show |
36 | HG00558.hp1 HG00642.hp1 HG00733.hp1 others(33): Show |
intron_variant | MODIFIER | c.1304-12848A>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77534429 | |||||||
chr14:77534529 | A | C | 47 | a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0040 others(44): Show |
47 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(44): Show |
intron_variant | MODIFIER | c.1304-12948T>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77534529 | |||||||
chr14:77534546 | C | T | 48 | a0001c0001t0001g0041 a0001c0001t0001g0216 a0001c0001t0002g0070 others(45): Show |
48 | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(45): Show |
intron_variant | MODIFIER | c.1304-12965G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77534546 | |||||||
chr14:77534588 | T | TACACACA others(3): Show |
59 | a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0040 others(56): Show |
59 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(56): Show |
intron_variant | MODIFIER | c.1304-13017_1304-13 others(16): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77534588 | |||||||
chr14:77534588 | T | TACACACA others(5): Show |
6 | a0001c0001t0001g0077 a0001c0001t0001g0088 a0001c0001t0001g0092 others(3): Show |
6 | HG00323.hp1 HG01934.hp2 HG01978.hp1 others(3): Show |
intron_variant | MODIFIER | c.1304-13019_1304-13 others(18): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77534588 | |||||||
chr14:77534588 | T | TACACACA others(7): Show |
11 | a0001c0001t0001g0139 a0001c0001t0001g0171 a0001c0001t0001g0217 others(8): Show |
11 | HG00733.hp1 HG01069.hp2 HG01243.hp2 others(8): Show |
intron_variant | MODIFIER | c.1304-13021_1304-13 others(20): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77534588 | |||||||
chr14:77534588 | T | TACACACA others(9): Show |
14 | a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0005g0073 others(11): Show |
14 | HG00733.hp2 HG01123.hp1 HG01167.hp2 others(11): Show |
intron_variant | MODIFIER | c.1304-13023_1304-13 others(22): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77534588 | |||||||
chr14:77534588 | T | TACACACA others(11): Show |
46 | a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0023 others(43): Show |
46 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(43): Show |
intron_variant | MODIFIER | c.1304-13008_1304-13 others(24): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77534588 | |||||||
chr14:77534588 | T | TACACACA others(13): Show |
26 | a0001c0001t0001g0035 a0001c0001t0001g0051 a0001c0001t0001g0052 others(23): Show |
26 | HG01081.hp2 HG01099.hp1 HG01106.hp2 others(23): Show |
intron_variant | MODIFIER | c.1304-13008_1304-13 others(26): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77534588 | |||||||
chr14:77534588 | T | TACACACA others(15): Show |
36 | a0001c0001t0001g0030 a0001c0001t0001g0036 a0001c0001t0001g0037 others(33): Show |
36 | HG00438.hp1 HG00621.hp2 HG01071.hp1 others(33): Show |
intron_variant | MODIFIER | c.1304-13008_1304-13 others(28): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77534588 | |||||||
chr14:77534588 | T | TACACACA others(17): Show |
14 | a0001c0001t0001g0001 a0001c0001t0001g0038 a0001c0001t0001g0039 others(11): Show |
15 | HG00621.hp1 HG01255.hp1 HG01515.hp1 others(12): Show |
intron_variant | MODIFIER | c.1304-13008_1304-13 others(30): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77534588 | |||||||
chr14:77534588 | T | TACACACA others(19): Show |
5 | a0001c0001t0003g0189 a0001c0001t0005g0127 a0001c0001t0019g0245 others(2): Show |
5 | HG01358.hp1 HG01884.hp2 HG01975.hp1 others(2): Show |
intron_variant | MODIFIER | c.1304-13008_1304-13 others(32): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77534588 | |||||||
chr14:77534588 | T | TACACACA others(23): Show |
1 | a0001c0001t0045g0163 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.1304-13008_1304-13 others(36): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77534588 | |||||||
chr14:77534588 | T | TATACACA others(7): Show |
3 | a0001c0001t0030g0160 a0001c0001t0043g0026 a0001c0005t0037g0055 |
3 | HG02559.hp1 HG02965.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.1304-13008_1304-13 others(20): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77534588 | |||||||
chr14:77534588 | T | TATACACA others(9): Show |
2 | a0001c0003t0017g0063 a0001c0005t0038g0138 |
2 | HG02145.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.1304-13008_1304-13 others(22): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77534588 | |||||||
chr14:77534588 | T | TATACACA others(11): Show |
2 | a0001c0001t0004g0029 a0001c0003t0023g0132 |
2 | HG01884.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.1304-13008_1304-13 others(24): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77534588 | |||||||
chr14:77534606 | T | C | 87 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(84): Show |
88 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(85): Show |
intron_variant | MODIFIER | c.1304-13025A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77534606 | |||||||
chr14:77534608 | T | C | 47 | a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0040 others(44): Show |
47 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(44): Show |
intron_variant | MODIFIER | c.1304-13027A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77534608 | |||||||
chr14:77534654 | A | C | 224 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(221): Show |
225 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(222): Show |
intron_variant | MODIFIER | c.1304-13073T>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77534654 | |||||||
chr14:77534723 | G | C | 2 | a0001c0002t0003g0032 a0001c0002t0003g0061 |
2 | HG01358.hp1 HG01975.hp1 |
intron_variant | MODIFIER | c.1304-13142C>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77534723 | |||||||
chr14:77534810 | G | A | 2 | a0001c0001t0004g0029 a0001c0003t0023g0132 |
2 | HG01884.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.1304-13229C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77534810 | |||||||
chr14:77534823 | C | A | 1 | a0001c0001t0005g0073 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.1304-13242G>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77534823 | |||||||
chr14:77534873 | A | G | 47 | a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0040 others(44): Show |
47 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(44): Show |
intron_variant | MODIFIER | c.1304-13292T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77534873 | |||||||
chr14:77534923 | A | G | 7 | a0001c0001t0004g0029 a0001c0001t0030g0160 a0001c0001t0043g0026 others(4): Show |
7 | HG01884.hp1 HG02145.hp2 HG02559.hp1 others(4): Show |
intron_variant | MODIFIER | c.1304-13342T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77534923 | |||||||
chr14:77534933 | CT | C | 55 | a0001c0001t0001g0041 a0001c0001t0001g0216 a0001c0001t0002g0070 others(52): Show |
55 | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(52): Show |
intron_variant | MODIFIER | c.1304-13353delA | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77534933 | |||||||
chr14:77535013 | C | T | 1 | a0001c0006t0018g0017 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1304-13432G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77535013 | |||||||
chr14:77535014 | G | A | 40 | a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0023 others(37): Show |
40 | HG00558.hp1 HG00642.hp1 HG00733.hp1 others(37): Show |
intron_variant | MODIFIER | c.1304-13433C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77535014 | |||||||
chr14:77535095 | T | A | 12 | a0001c0001t0001g0216 a0001c0001t0004g0005 a0001c0001t0004g0006 others(9): Show |
12 | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(9): Show |
intron_variant | MODIFIER | c.1304-13514A>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77535095 | |||||||
chr14:77535174 | G | A | 7 | a0001c0001t0004g0029 a0001c0001t0030g0160 a0001c0001t0043g0026 others(4): Show |
7 | HG01884.hp1 HG02145.hp2 HG02559.hp1 others(4): Show |
intron_variant | MODIFIER | c.1304-13593C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77535174 | |||||||
chr14:77535259 | G | A | 44 | a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0036 others(41): Show |
45 | HG00099.hp1 HG00408.hp2 HG00438.hp1 others(42): Show |
intron_variant | MODIFIER | c.1304-13678C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77535259 | |||||||
chr14:77535349 | C | T | 18 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0008g0118 others(15): Show |
18 | HG00408.hp1 HG00642.hp2 HG00735.hp2 others(15): Show |
intron_variant | MODIFIER | c.1304-13768G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77535349 | |||||||
chr14:77535519 | A | G | 225 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(222): Show |
226 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(223): Show |
intron_variant | MODIFIER | c.1304-13938T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77535519 | |||||||
chr14:77535654 | A | G | 47 | a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0040 others(44): Show |
47 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(44): Show |
intron_variant | MODIFIER | c.1304-14073T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77535654 | |||||||
chr14:77535657 | T | C | 1 | a0001c0001t0043g0026 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1304-14076A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77535657 | |||||||
chr14:77535880 | G | A | 48 | a0001c0001t0001g0041 a0001c0001t0001g0216 a0001c0001t0002g0070 others(45): Show |
48 | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(45): Show |
intron_variant | MODIFIER | c.1304-14299C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77535880 | |||||||
chr14:77535905 | C | G | 1 | a0001c0001t0009g0084 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.1304-14324G>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77535905 | |||||||
chr14:77536036 | G | T | 1 | a0001c0001t0044g0047 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.1304-14455C>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77536036 | |||||||
chr14:77536043 | G | A | 7 | a0001c0001t0004g0029 a0001c0001t0030g0160 a0001c0001t0043g0026 others(4): Show |
7 | HG01884.hp1 HG02145.hp2 HG02559.hp1 others(4): Show |
intron_variant | MODIFIER | c.1304-14462C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77536043 | |||||||
chr14:77536260 | T | C | 2 | a0001c0005t0037g0055 a0001c0005t0038g0138 |
2 | HG02145.hp2 HG02559.hp1 |
intron_variant | MODIFIER | c.1304-14679A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77536260 | |||||||
chr14:77536274 | GATTA | G | 47 | a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0040 others(44): Show |
47 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(44): Show |
intron_variant | MODIFIER | c.1304-14697_1304-14 others(10): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77536274 | |||||||
chr14:77536304 | TAA | T | 9 | a0001c0001t0024g0220 a0001c0002t0005g0075 a0001c0002t0005g0076 others(6): Show |
9 | HG01891.hp1 HG02572.hp1 HG02615.hp1 others(6): Show |
intron_variant | MODIFIER | c.1304-14725_1304-14 others(8): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77536304 | |||||||
chr14:77536325 | A | T | 8 | a0001c0001t0024g0220 a0001c0002t0005g0075 a0001c0002t0005g0076 others(5): Show |
8 | HG01891.hp1 HG02572.hp1 HG02615.hp1 others(5): Show |
intron_variant | MODIFIER | c.1304-14744T>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77536325 | |||||||
chr14:77536367 | G | T | 7 | a0001c0001t0004g0029 a0001c0001t0030g0160 a0001c0001t0043g0026 others(4): Show |
7 | HG01884.hp1 HG02145.hp2 HG02559.hp1 others(4): Show |
intron_variant | MODIFIER | c.1304-14786C>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77536367 | |||||||
chr14:77536409 | C | T | 4 | a0001c0003t0017g0063 a0001c0006t0018g0017 a0001c0006t0018g0074 others(1): Show |
4 | HG02559.hp2 HG02922.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.1304-14828G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77536409 | |||||||
chr14:77536410 | G | A | 36 | a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0023 others(33): Show |
36 | HG00558.hp1 HG00642.hp1 HG00733.hp1 others(33): Show |
intron_variant | MODIFIER | c.1304-14829C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77536410 | |||||||
chr14:77536445 | T | A | 1 | a0001c0001t0001g0018 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1304-14864A>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77536445 | |||||||
chr14:77536449 | T | C | 33 | a0001c0001t0001g0041 a0001c0001t0002g0070 a0001c0001t0003g0014 others(30): Show |
33 | HG01081.hp2 HG01109.hp1 HG01358.hp2 others(30): Show |
intron_variant | MODIFIER | c.1304-14868A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77536449 | |||||||
chr14:77536494 | G | A | 2 | a0001c0004t0004g0190 a0002c0007t0042g0128 |
2 | HG02717.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.1304-14913C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77536494 | |||||||
chr14:77536597 | T | C | 1 | a0001c0001t0030g0160 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1304-15016A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77536597 | |||||||
chr14:77536723 | A | G | 11 | a0001c0001t0001g0216 a0001c0001t0004g0005 a0001c0001t0004g0006 others(8): Show |
11 | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(8): Show |
intron_variant | MODIFIER | c.1304-15142T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77536723 | |||||||
chr14:77536925 | C | A | 48 | a0001c0001t0001g0041 a0001c0001t0001g0216 a0001c0001t0002g0070 others(45): Show |
48 | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(45): Show |
intron_variant | MODIFIER | c.1303+15171G>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77536925 | |||||||
chr14:77536929 | A | C | 55 | a0001c0001t0001g0041 a0001c0001t0001g0216 a0001c0001t0002g0070 others(52): Show |
55 | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(52): Show |
intron_variant | MODIFIER | c.1303+15167T>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77536929 | |||||||
chr14:77536985 | C | T | 33 | a0001c0001t0001g0041 a0001c0001t0002g0070 a0001c0001t0003g0014 others(30): Show |
33 | HG01081.hp2 HG01109.hp1 HG01358.hp2 others(30): Show |
intron_variant | MODIFIER | c.1303+15111G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77536985 | |||||||
chr14:77537000 | G | A | 1 | a0001c0001t0001g0216 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.1303+15096C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77537000 | |||||||
chr14:77537025 | C | T | 10 | a0001c0002t0007g0236 a0001c0002t0007g0238 a0001c0002t0007g0239 others(7): Show |
10 | HG02109.hp2 HG02280.hp1 HG02486.hp2 others(7): Show |
intron_variant | MODIFIER | c.1303+15071G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77537025 | |||||||
chr14:77537113 | G | A | 1 | a0001c0001t0012g0225 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.1303+14983C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77537113 | |||||||
chr14:77537286 | T | TA | 178 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0022 others(175): Show |
178 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(175): Show |
intron_variant | MODIFIER | c.1303+14809dupT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77537286 | |||||||
chr14:77537416 | C | A | 225 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(222): Show |
226 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(223): Show |
intron_variant | MODIFIER | c.1303+14680G>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77537416 | |||||||
chr14:77537541 | T | C | 9 | a0001c0001t0024g0220 a0001c0002t0005g0075 a0001c0002t0005g0076 others(6): Show |
9 | HG01891.hp1 HG02572.hp1 HG02615.hp1 others(6): Show |
intron_variant | MODIFIER | c.1303+14555A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77537541 | |||||||
chr14:77537663 | T | C | 40 | a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0023 others(37): Show |
40 | HG00558.hp1 HG00642.hp1 HG00733.hp1 others(37): Show |
intron_variant | MODIFIER | c.1303+14433A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77537663 | |||||||
chr14:77537736 | T | G | 8 | a0001c0001t0024g0220 a0001c0002t0005g0075 a0001c0002t0005g0076 others(5): Show |
8 | HG01891.hp1 HG02572.hp1 HG02615.hp1 others(5): Show |
intron_variant | MODIFIER | c.1303+14360A>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77537736 | |||||||
chr14:77537753 | C | T | 225 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(222): Show |
226 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(223): Show |
intron_variant | MODIFIER | c.1303+14343G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77537753 | |||||||
chr14:77537853 | C | T | 225 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(222): Show |
226 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(223): Show |
intron_variant | MODIFIER | c.1303+14243G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77537853 | |||||||
chr14:77537888 | ATTC | A | 9 | a0001c0001t0024g0220 a0001c0002t0005g0075 a0001c0002t0005g0076 others(6): Show |
9 | HG01891.hp1 HG02572.hp1 HG02615.hp1 others(6): Show |
intron_variant | MODIFIER | c.1303+14205_1303+14 others(9): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77537888 | |||||||
chr14:77537904 | C | A | 1 | a0001c0001t0025g0019 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.1303+14192G>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77537904 | |||||||
chr14:77538006 | A | G | 56 | a0001c0001t0001g0041 a0001c0001t0001g0216 a0001c0001t0002g0070 others(53): Show |
56 | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(53): Show |
intron_variant | MODIFIER | c.1303+14090T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77538006 | |||||||
chr14:77538221 | T | A | 18 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0008g0118 others(15): Show |
18 | HG00408.hp1 HG00642.hp2 HG00735.hp2 others(15): Show |
intron_variant | MODIFIER | c.1303+13875A>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77538221 | |||||||
chr14:77538247 | G | C | 3 | a0001c0001t0001g0031 a0001c0001t0001g0046 a0001c0001t0001g0107 |
3 | HG03017.hp2 HG03710.hp2 HG04199.hp1 |
intron_variant | MODIFIER | c.1303+13849C>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77538247 | |||||||
chr14:77538409 | C | A | 1 | a0001c0001t0001g0144 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.1303+13687G>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77538409 | |||||||
chr14:77538427 | G | C | 1 | a0001c0001t0001g0129 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1303+13669C>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77538427 | |||||||
chr14:77538557 | T | C | 225 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(222): Show |
226 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(223): Show |
intron_variant | MODIFIER | c.1303+13539A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77538557 | |||||||
chr14:77538685 | C | G | 3 | a0001c0001t0024g0220 a0001c0002t0010g0065 a0001c0002t0010g0066 |
3 | HG01891.hp1 HG02818.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.1303+13411G>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77538685 | |||||||
chr14:77538767 | C | T | 4 | a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0013 others(1): Show |
4 | HG02451.hp2 HG02572.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.1303+13329G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77538767 | |||||||
chr14:77538768 | G | A | 48 | a0001c0001t0001g0041 a0001c0001t0001g0216 a0001c0001t0002g0070 others(45): Show |
48 | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(45): Show |
intron_variant | MODIFIER | c.1303+13328C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77538768 | |||||||
chr14:77538772 | T | C | 17 | a0001c0001t0002g0070 a0001c0001t0003g0064 a0001c0001t0003g0226 others(14): Show |
17 | HG01081.hp2 HG01884.hp2 HG02109.hp1 others(14): Show |
intron_variant | MODIFIER | c.1303+13324A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77538772 | |||||||
chr14:77538796 | C | A | 1 | a0001c0001t0043g0026 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1303+13300G>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77538796 | |||||||
chr14:77538808 | T | TA | 7 | a0001c0001t0001g0139 a0001c0001t0001g0171 a0001c0001t0001g0217 others(4): Show |
7 | HG00733.hp1 HG01069.hp2 HG01243.hp2 others(4): Show |
intron_variant | MODIFIER | c.1303+13287_1303+13 others(7): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77538808 | |||||||
chr14:77539022 | T | C | 4 | a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0013 others(1): Show |
4 | HG02451.hp2 HG02572.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.1303+13074A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77539022 | |||||||
chr14:77539110 | A | T | 7 | a0001c0001t0004g0029 a0001c0001t0030g0160 a0001c0001t0043g0026 others(4): Show |
7 | HG01884.hp1 HG02145.hp2 HG02559.hp1 others(4): Show |
intron_variant | MODIFIER | c.1303+12986T>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77539110 | |||||||
chr14:77539146 | A | ATATTAT | 55 | a0001c0001t0001g0041 a0001c0001t0001g0216 a0001c0001t0002g0070 others(52): Show |
55 | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(52): Show |
intron_variant | MODIFIER | c.1303+12944_1303+12 others(12): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77539146 | |||||||
chr14:77539483 | C | CT | 36 | a0001c0001t0001g0001 a0001c0001t0001g0036 a0001c0001t0001g0037 others(33): Show |
37 | HG00099.hp1 HG00408.hp2 HG00558.hp2 others(34): Show |
intron_variant | MODIFIER | c.1303+12612dupA | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77539483 | |||||||
chr14:77539483 | C | CTT | 20 | a0001c0001t0001g0041 a0001c0001t0001g0087 a0001c0001t0001g0089 others(17): Show |
20 | HG00621.hp2 HG01109.hp1 HG01981.hp2 others(17): Show |
intron_variant | MODIFIER | c.1303+12611_1303+12 others(8): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77539483 | |||||||
chr14:77539483 | C | CTTT | 15 | a0001c0001t0002g0070 a0001c0001t0003g0015 a0001c0001t0003g0064 others(12): Show |
15 | HG01358.hp2 HG01884.hp2 HG02109.hp1 others(12): Show |
intron_variant | MODIFIER | c.1303+12610_1303+12 others(9): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77539483 | |||||||
chr14:77539483 | C | CTTTTTTT others(5): Show |
1 | a0001c0001t0003g0221 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.1303+12601_1303+12 others(18): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77539483 | |||||||
chr14:77539483 | CT | C | 42 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0216 others(39): Show |
42 | HG00280.hp2 HG00408.hp1 HG00642.hp2 others(39): Show |
intron_variant | MODIFIER | c.1303+12612delA | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77539483 | |||||||
chr14:77539483 | CTT | C | 5 | a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0013 others(2): Show |
5 | HG02451.hp2 HG02572.hp2 HG02717.hp2 others(2): Show |
intron_variant | MODIFIER | c.1303+12611_1303+12 others(8): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77539483 | |||||||
chr14:77539483 | CTTT | C | 36 | a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0023 others(33): Show |
36 | HG00558.hp1 HG00642.hp1 HG00733.hp1 others(33): Show |
intron_variant | MODIFIER | c.1303+12610_1303+12 others(9): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77539483 | |||||||
chr14:77539483 | CTTTTTTT others(1): Show |
C | 7 | a0001c0001t0004g0029 a0001c0001t0030g0160 a0001c0001t0043g0026 others(4): Show |
7 | HG01884.hp1 HG02145.hp2 HG02559.hp1 others(4): Show |
intron_variant | MODIFIER | c.1303+12605_1303+12 others(14): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77539483 | |||||||
chr14:77539506 | T | TTTG | 38 | a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0040 others(35): Show |
38 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(35): Show |
intron_variant | MODIFIER | c.1303+12589_1303+12 others(9): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77539506 | |||||||
chr14:77539506 | T | TTTTG | 9 | a0001c0001t0001g0048 a0001c0001t0001g0079 a0001c0001t0001g0082 others(6): Show |
9 | HG00741.hp2 HG01496.hp1 HG01934.hp2 others(6): Show |
intron_variant | MODIFIER | c.1303+12589_1303+12 others(10): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77539506 | |||||||
chr14:77539521 | G | A | 7 | a0001c0001t0004g0029 a0001c0001t0030g0160 a0001c0001t0043g0026 others(4): Show |
7 | HG01884.hp1 HG02145.hp2 HG02559.hp1 others(4): Show |
intron_variant | MODIFIER | c.1303+12575C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77539521 | |||||||
chr14:77539558 | C | T | 1 | a0001c0002t0007g0241 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1303+12538G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77539558 | |||||||
chr14:77539842 | T | C | 3 | a0001c0006t0018g0017 a0001c0006t0018g0074 a0001c0006t0022g0004 |
3 | HG02559.hp2 HG02922.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.1303+12254A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77539842 | |||||||
chr14:77539844 | A | AAACGTGT others(11): Show |
3 | a0001c0006t0018g0017 a0001c0006t0018g0074 a0001c0006t0022g0004 |
3 | HG02559.hp2 HG02922.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.1303+12251_1303+12 others(24): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77539844 | |||||||
chr14:77539937 | C | A | 48 | a0001c0001t0001g0041 a0001c0001t0001g0216 a0001c0001t0002g0070 others(45): Show |
48 | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(45): Show |
intron_variant | MODIFIER | c.1303+12159G>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77539937 | |||||||
chr14:77539978 | C | T | 3 | a0001c0001t0024g0220 a0001c0002t0010g0065 a0001c0002t0010g0066 |
3 | HG01891.hp1 HG02818.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.1303+12118G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77539978 | |||||||
chr14:77540073 | A | G | 2 | a0001c0001t0003g0184 a0001c0001t0003g0185 |
2 | HG03471.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.1303+12023T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77540073 | |||||||
chr14:77540136 | C | T | 51 | a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0036 others(48): Show |
52 | HG00099.hp1 HG00408.hp2 HG00438.hp1 others(49): Show |
intron_variant | MODIFIER | c.1303+11960G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77540136 | |||||||
chr14:77540137 | G | A | 1 | a0001c0003t0023g0132 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1303+11959C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77540137 | |||||||
chr14:77540138 | G | A | 11 | a0001c0001t0001g0216 a0001c0001t0004g0005 a0001c0001t0004g0006 others(8): Show |
11 | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(8): Show |
intron_variant | MODIFIER | c.1303+11958C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77540138 | |||||||
chr14:77540198 | CT | C | 225 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(222): Show |
226 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(223): Show |
intron_variant | MODIFIER | c.1303+11897delA | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77540198 | |||||||
chr14:77540205 | C | CA | 11 | a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0152 others(8): Show |
11 | HG02080.hp1 HG02523.hp1 HG02523.hp2 others(8): Show |
intron_variant | MODIFIER | c.1303+11890dupT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77540205 | |||||||
chr14:77540205 | CA | C | 79 | a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0040 others(76): Show |
79 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(76): Show |
intron_variant | MODIFIER | c.1303+11890delT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77540205 | |||||||
chr14:77540205 | CAA | C | 16 | a0001c0001t0001g0081 a0001c0001t0001g0216 a0001c0001t0004g0005 others(13): Show |
16 | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(13): Show |
intron_variant | MODIFIER | c.1303+11889_1303+11 others(8): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77540205 | |||||||
chr14:77540227 | A | G | 1 | a0001c0001t0046g0233 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.1303+11869T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77540227 | |||||||
chr14:77540274 | A | G | 1 | a0001c0001t0046g0233 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.1303+11822T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77540274 | |||||||
chr14:77540281 | T | G | 1 | a0001c0001t0046g0233 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.1303+11815A>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77540281 | |||||||
chr14:77540342 | C | T | 18 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0008g0118 others(15): Show |
18 | HG00408.hp1 HG00642.hp2 HG00735.hp2 others(15): Show |
intron_variant | MODIFIER | c.1303+11754G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77540342 | |||||||
chr14:77540446 | G | A | 225 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(222): Show |
226 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(223): Show |
intron_variant | MODIFIER | c.1303+11650C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77540446 | |||||||
chr14:77540468 | T | A | 1 | a0001c0002t0002g0192 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1303+11628A>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77540468 | |||||||
chr14:77540498 | G | A | 2 | a0001c0004t0004g0190 a0002c0007t0042g0128 |
2 | HG02717.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.1303+11598C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77540498 | |||||||
chr14:77540538 | G | A | 9 | a0001c0001t0024g0220 a0001c0002t0005g0075 a0001c0002t0005g0076 others(6): Show |
9 | HG01891.hp1 HG02572.hp1 HG02615.hp1 others(6): Show |
intron_variant | MODIFIER | c.1303+11558C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77540538 | |||||||
chr14:77540644 | T | G | 1 | a0001c0001t0048g0234 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.1303+11452A>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77540644 | |||||||
chr14:77540733 | C | T | 1 | a0001c0001t0001g0048 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.1303+11363G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77540733 | |||||||
chr14:77540763 | C | T | 1 | a0001c0001t0048g0234 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.1303+11333G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77540763 | |||||||
chr14:77540822 | A | C | 55 | a0001c0001t0001g0041 a0001c0001t0001g0216 a0001c0001t0002g0070 others(52): Show |
55 | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(52): Show |
intron_variant | MODIFIER | c.1303+11274T>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77540822 | |||||||
chr14:77540904 | C | T | 55 | a0001c0001t0001g0041 a0001c0001t0001g0216 a0001c0001t0002g0070 others(52): Show |
55 | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(52): Show |
intron_variant | MODIFIER | c.1303+11192G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77540904 | |||||||
chr14:77541015 | T | TTTTA | 13 | a0001c0001t0001g0139 a0001c0001t0001g0148 a0001c0001t0001g0171 others(10): Show |
13 | HG00733.hp1 HG01069.hp2 HG01167.hp1 others(10): Show |
intron_variant | MODIFIER | c.1303+11077_1303+11 others(10): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77541015 | |||||||
chr14:77541015 | TTTTA | T | 76 | a0001c0001t0001g0041 a0001c0001t0001g0129 a0001c0001t0001g0216 others(73): Show |
76 | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(73): Show |
intron_variant | MODIFIER | c.1303+11077_1303+11 others(10): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77541015 | |||||||
chr14:77541015 | TTTTATTT others(5): Show |
T | 2 | a0001c0001t0005g0073 a0001c0001t0032g0205 |
2 | HG01168.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.1303+11069_1303+11 others(18): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77541015 | |||||||
chr14:77541127 | C | A | 47 | a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0040 others(44): Show |
47 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(44): Show |
intron_variant | MODIFIER | c.1303+10969G>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77541127 | |||||||
chr14:77541174 | A | T | 1 | a0001c0001t0001g0211 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.1303+10922T>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77541174 | |||||||
chr14:77541181 | A | T | 1 | a0001c0001t0001g0023 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.1303+10915T>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77541181 | |||||||
chr14:77541213 | A | AT | 48 | a0001c0001t0001g0041 a0001c0001t0001g0216 a0001c0001t0002g0070 others(45): Show |
48 | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(45): Show |
intron_variant | MODIFIER | c.1303+10882dupA | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77541213 | |||||||
chr14:77541322 | A | G | 225 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(222): Show |
226 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(223): Show |
intron_variant | MODIFIER | c.1303+10774T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77541322 | |||||||
chr14:77541336 | G | A | 10 | a0001c0001t0001g0089 a0001c0001t0001g0134 a0001c0001t0001g0145 others(7): Show |
10 | HG00621.hp2 HG01928.hp1 HG02080.hp1 others(7): Show |
intron_variant | MODIFIER | c.1303+10760C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77541336 | |||||||
chr14:77541479 | ACT | A | 7 | a0001c0001t0004g0029 a0001c0001t0030g0160 a0001c0001t0043g0026 others(4): Show |
7 | HG01884.hp1 HG02145.hp2 HG02559.hp1 others(4): Show |
intron_variant | MODIFIER | c.1303+10615_1303+10 others(8): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77541479 | |||||||
chr14:77541528 | G | A | 47 | a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0040 others(44): Show |
47 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(44): Show |
intron_variant | MODIFIER | c.1303+10568C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77541528 | |||||||
chr14:77541561 | G | A | 225 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(222): Show |
226 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(223): Show |
intron_variant | MODIFIER | c.1303+10535C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77541561 | |||||||
chr14:77541828 | G | A | 114 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0022 others(111): Show |
115 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(112): Show |
intron_variant | MODIFIER | c.1303+10268C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77541828 | |||||||
chr14:77542052 | C | T | 9 | a0001c0001t0024g0220 a0001c0002t0005g0075 a0001c0002t0005g0076 others(6): Show |
9 | HG01891.hp1 HG02572.hp1 HG02615.hp1 others(6): Show |
intron_variant | MODIFIER | c.1303+10044G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77542052 | |||||||
chr14:77542061 | C | T | 9 | a0001c0001t0024g0220 a0001c0002t0005g0075 a0001c0002t0005g0076 others(6): Show |
9 | HG01891.hp1 HG02572.hp1 HG02615.hp1 others(6): Show |
intron_variant | MODIFIER | c.1303+10035G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77542061 | |||||||
chr14:77542063 | G | GA | 17 | a0001c0001t0001g0009 a0001c0001t0001g0022 a0001c0001t0001g0042 others(14): Show |
17 | HG00558.hp1 HG00735.hp1 HG00741.hp2 others(14): Show |
intron_variant | MODIFIER | c.1303+10032dupT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77542063 | |||||||
chr14:77542063 | G | GAA | 6 | a0001c0001t0003g0221 a0001c0002t0003g0032 a0001c0002t0003g0061 others(3): Show |
6 | HG01168.hp2 HG01358.hp1 HG01975.hp1 others(3): Show |
intron_variant | MODIFIER | c.1303+10031_1303+10 others(8): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77542063 | |||||||
chr14:77542063 | G | GAAA | 25 | a0001c0001t0001g0041 a0001c0001t0001g0216 a0001c0001t0003g0014 others(22): Show |
25 | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(22): Show |
intron_variant | MODIFIER | c.1303+10030_1303+10 others(9): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77542063 | |||||||
chr14:77542063 | G | GAAAA | 17 | a0001c0001t0002g0070 a0001c0001t0003g0226 a0001c0001t0004g0016 others(14): Show |
17 | HG01081.hp2 HG01123.hp1 HG01884.hp2 others(14): Show |
intron_variant | MODIFIER | c.1303+10029_1303+10 others(10): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77542063 | |||||||
chr14:77542079 | C | A | 69 | a0001c0001t0001g0041 a0001c0001t0001g0119 a0001c0001t0001g0120 others(66): Show |
69 | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(66): Show |
intron_variant | MODIFIER | c.1303+10017G>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77542079 | |||||||
chr14:77542262 | G | C | 47 | a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0040 others(44): Show |
47 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(44): Show |
intron_variant | MODIFIER | c.1303+9834C>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77542262 | |||||||
chr14:77542348 | G | A | 17 | a0001c0001t0001g0041 a0001c0001t0003g0014 a0001c0001t0003g0015 others(14): Show |
17 | HG01109.hp1 HG01168.hp2 HG01358.hp2 others(14): Show |
intron_variant | MODIFIER | c.1303+9748C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77542348 | |||||||
chr14:77542389 | G | C | 1 | a0001c0001t0001g0052 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1303+9707C>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77542389 | |||||||
chr14:77542847 | G | C | 1 | a0001c0002t0006g0123 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.1303+9249C>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77542847 | |||||||
chr14:77543049 | C | T | 18 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0008g0118 others(15): Show |
18 | HG00408.hp1 HG00642.hp2 HG00735.hp2 others(15): Show |
intron_variant | MODIFIER | c.1303+9047G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77543049 | |||||||
chr14:77543317 | T | C | 1 | a0001c0001t0003g0221 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.1303+8779A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77543317 | |||||||
chr14:77543379 | CAA | C | 8 | a0001c0001t0024g0220 a0001c0002t0005g0075 a0001c0002t0005g0076 others(5): Show |
8 | HG01891.hp1 HG02572.hp1 HG02615.hp1 others(5): Show |
intron_variant | MODIFIER | c.1303+8715_1303+871 others(6): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77543379 | |||||||
chr14:77543383 | G | A | 7 | a0001c0001t0004g0029 a0001c0001t0030g0160 a0001c0001t0043g0026 others(4): Show |
7 | HG01884.hp1 HG02145.hp2 HG02559.hp1 others(4): Show |
intron_variant | MODIFIER | c.1303+8713C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77543383 | |||||||
chr14:77543489 | G | A | 2 | a0001c0001t0003g0189 a0001c0001t0019g0245 |
2 | HG02647.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.1303+8607C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77543489 | |||||||
chr14:77543509 | T | C | 36 | a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0023 others(33): Show |
36 | HG00558.hp1 HG00642.hp1 HG00733.hp1 others(33): Show |
intron_variant | MODIFIER | c.1303+8587A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77543509 | |||||||
chr14:77543521 | A | G | 1 | a0001c0001t0005g0073 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.1303+8575T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77543521 | |||||||
chr14:77543778 | C | T | 1 | a0001c0001t0001g0133 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.1303+8318G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77543778 | |||||||
chr14:77543814 | G | A | 89 | a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0036 others(86): Show |
90 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(87): Show |
intron_variant | MODIFIER | c.1303+8282C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77543814 | |||||||
chr14:77543900 | C | G | 4 | a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0013 others(1): Show |
4 | HG02451.hp2 HG02572.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.1303+8196G>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77543900 | |||||||
chr14:77543924 | T | A | 33 | a0001c0001t0001g0041 a0001c0001t0002g0070 a0001c0001t0003g0014 others(30): Show |
33 | HG01081.hp2 HG01109.hp1 HG01358.hp2 others(30): Show |
intron_variant | MODIFIER | c.1303+8172A>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77543924 | |||||||
chr14:77544029 | C | T | 1 | a0001c0001t0009g0174 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.1303+8067G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77544029 | |||||||
chr14:77544038 | AT | A | 11 | a0001c0001t0001g0216 a0001c0001t0004g0005 a0001c0001t0004g0006 others(8): Show |
11 | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(8): Show |
intron_variant | MODIFIER | c.1303+8057delA | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77544038 | |||||||
chr14:77544090 | T | C | 1 | a0001c0002t0006g0153 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.1303+8006A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77544090 | |||||||
chr14:77544100 | T | C | 1 | a0001c0001t0005g0223 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.1303+7996A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77544100 | |||||||
chr14:77544126 | C | G | 1 | a0001c0001t0006g0053 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.1303+7970G>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77544126 | |||||||
chr14:77544160 | C | T | 1 | a0001c0001t0001g0129 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1303+7936G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77544160 | |||||||
chr14:77544165 | C | T | 1 | a0001c0001t0001g0140 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.1303+7931G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77544165 | |||||||
chr14:77544698 | C | G | 47 | a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0040 others(44): Show |
47 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(44): Show |
intron_variant | MODIFIER | c.1303+7398G>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77544698 | |||||||
chr14:77544719 | T | C | 89 | a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0036 others(86): Show |
90 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(87): Show |
intron_variant | MODIFIER | c.1303+7377A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77544719 | |||||||
chr14:77544727 | C | T | 3 | a0001c0006t0018g0017 a0001c0006t0018g0074 a0001c0006t0022g0004 |
3 | HG02559.hp2 HG02922.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.1303+7369G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77544727 | |||||||
chr14:77544834 | C | A | 41 | a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0036 others(38): Show |
42 | HG00099.hp1 HG00408.hp2 HG00438.hp1 others(39): Show |
intron_variant | MODIFIER | c.1303+7262G>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77544834 | |||||||
chr14:77544864 | C | T | 47 | a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0040 others(44): Show |
47 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(44): Show |
intron_variant | MODIFIER | c.1303+7232G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77544864 | |||||||
chr14:77545164 | A | C | 1 | a0001c0001t0001g0098 | 1 | NA18948.hp2 | intron_variant | MODIFIER | c.1303+6932T>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77545164 | |||||||
chr14:77545255 | T | A | 225 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(222): Show |
226 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(223): Show |
intron_variant | MODIFIER | c.1303+6841A>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77545255 | |||||||
chr14:77545269 | C | CT | 46 | a0001c0001t0001g0041 a0001c0001t0001g0216 a0001c0001t0002g0070 others(43): Show |
46 | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(43): Show |
intron_variant | MODIFIER | c.1303+6826dupA | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77545269 | |||||||
chr14:77545269 | CT | C | 48 | a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0036 others(45): Show |
49 | HG00099.hp1 HG00408.hp2 HG00438.hp1 others(46): Show |
intron_variant | MODIFIER | c.1303+6826delA | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77545269 | |||||||
chr14:77545287 | T | A | 47 | a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0040 others(44): Show |
47 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(44): Show |
intron_variant | MODIFIER | c.1303+6809A>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77545287 | |||||||
chr14:77545379 | C | G | 96 | a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0036 others(93): Show |
97 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(94): Show |
intron_variant | MODIFIER | c.1303+6717G>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77545379 | |||||||
chr14:77545449 | A | G | 25 | a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0023 others(22): Show |
25 | HG00558.hp1 HG00642.hp1 HG00738.hp1 others(22): Show |
intron_variant | MODIFIER | c.1303+6647T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77545449 | |||||||
chr14:77545451 | T | C | 2 | a0001c0004t0004g0190 a0002c0007t0042g0128 |
2 | HG02717.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.1303+6645A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77545451 | |||||||
chr14:77545538 | G | A | 2 | a0001c0004t0004g0190 a0002c0007t0042g0128 |
2 | HG02717.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.1303+6558C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77545538 | |||||||
chr14:77545548 | C | A | 1 | a0001c0001t0021g0003 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.1303+6548G>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77545548 | |||||||
chr14:77545553 | G | T | 1 | a0001c0001t0021g0003 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.1303+6543C>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77545553 | |||||||
chr14:77545568 | C | T | 3 | a0001c0004t0004g0141 a0001c0004t0004g0142 a0001c0004t0004g0183 |
3 | HG02622.hp2 HG03579.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.1303+6528G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77545568 | |||||||
chr14:77545569 | G | A | 3 | a0001c0006t0018g0017 a0001c0006t0018g0074 a0001c0006t0022g0004 |
3 | HG02559.hp2 HG02922.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.1303+6527C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77545569 | |||||||
chr14:77545651 | G | A | 48 | a0001c0001t0001g0041 a0001c0001t0001g0216 a0001c0001t0002g0070 others(45): Show |
48 | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(45): Show |
intron_variant | MODIFIER | c.1303+6445C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77545651 | |||||||
chr14:77545673 | T | C | 49 | a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0036 others(46): Show |
50 | HG00099.hp1 HG00408.hp2 HG00438.hp1 others(47): Show |
intron_variant | MODIFIER | c.1303+6423A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77545673 | |||||||
chr14:77545705 | T | TG | 47 | a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0040 others(44): Show |
47 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(44): Show |
intron_variant | MODIFIER | c.1303+6390dupC | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77545705 | |||||||
chr14:77545711 | G | A | 1 | a0001c0001t0026g0159 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.1303+6385C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77545711 | |||||||
chr14:77545896 | G | A | 1 | a0001c0001t0048g0234 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.1303+6200C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77545896 | |||||||
chr14:77546132 | C | T | 1 | a0001c0006t0018g0017 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1303+5964G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77546132 | |||||||
chr14:77546389 | A | G | 48 | a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0036 others(45): Show |
49 | HG00099.hp1 HG00408.hp2 HG00438.hp1 others(46): Show |
intron_variant | MODIFIER | c.1303+5707T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77546389 | |||||||
chr14:77546586 | G | C | 49 | a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0036 others(46): Show |
50 | HG00099.hp1 HG00408.hp2 HG00438.hp1 others(47): Show |
intron_variant | MODIFIER | c.1303+5510C>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77546586 | |||||||
chr14:77546608 | C | T | 9 | a0001c0001t0024g0220 a0001c0002t0005g0075 a0001c0002t0005g0076 others(6): Show |
9 | HG01891.hp1 HG02572.hp1 HG02615.hp1 others(6): Show |
intron_variant | MODIFIER | c.1303+5488G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77546608 | |||||||
chr14:77546611 | C | T | 18 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0008g0118 others(15): Show |
18 | HG00408.hp1 HG00642.hp2 HG00735.hp2 others(15): Show |
intron_variant | MODIFIER | c.1303+5485G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77546611 | |||||||
chr14:77546686 | T | C | 2 | a0001c0006t0018g0074 a0001c0006t0022g0004 |
2 | HG02922.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.1303+5410A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77546686 | |||||||
chr14:77546740 | C | CT | 206 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(203): Show |
207 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(204): Show |
intron_variant | MODIFIER | c.1303+5355dupA | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77546740 | |||||||
chr14:77546740 | C | CTT | 19 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0008g0118 others(16): Show |
19 | HG00408.hp1 HG00642.hp2 HG00735.hp2 others(16): Show |
intron_variant | MODIFIER | c.1303+5354_1303+535 others(6): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77546740 | |||||||
chr14:77546765 | C | T | 47 | a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0040 others(44): Show |
47 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(44): Show |
intron_variant | MODIFIER | c.1303+5331G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77546765 | |||||||
chr14:77546799 | G | A | 9 | a0001c0001t0024g0220 a0001c0002t0005g0075 a0001c0002t0005g0076 others(6): Show |
9 | HG01891.hp1 HG02572.hp1 HG02615.hp1 others(6): Show |
intron_variant | MODIFIER | c.1303+5297C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77546799 | |||||||
chr14:77547013 | C | T | 36 | a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0023 others(33): Show |
36 | HG00558.hp1 HG00642.hp1 HG00733.hp1 others(33): Show |
intron_variant | MODIFIER | c.1303+5083G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77547013 | |||||||
chr14:77547092 | C | T | 48 | a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0036 others(45): Show |
49 | HG00099.hp1 HG00408.hp2 HG00438.hp1 others(46): Show |
intron_variant | MODIFIER | c.1303+5004G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77547092 | |||||||
chr14:77547117 | G | A | 12 | a0001c0001t0001g0216 a0001c0001t0004g0005 a0001c0001t0004g0006 others(9): Show |
12 | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(9): Show |
intron_variant | MODIFIER | c.1303+4979C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77547117 | |||||||
chr14:77547141 | A | G | 1 | a0001c0001t0003g0221 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.1303+4955T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77547141 | |||||||
chr14:77547155 | G | A | 1 | a0001c0001t0003g0221 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.1303+4941C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77547155 | |||||||
chr14:77547163 | C | A | 1 | a0001c0001t0001g0092 | 1 | NA18981.hp2 | intron_variant | MODIFIER | c.1303+4933G>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77547163 | |||||||
chr14:77547163 | C | T | 2 | a0001c0001t0001g0080 a0001c0001t0001g0155 |
2 | NA19087.hp1 NA19087.hp2 |
intron_variant | MODIFIER | c.1303+4933G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77547163 | |||||||
chr14:77547174 | AT | A | 191 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(188): Show |
192 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(189): Show |
intron_variant | MODIFIER | c.1303+4921delA | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77547174 | |||||||
chr14:77547293 | C | T | 1 | a0001c0001t0046g0233 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.1303+4803G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77547293 | |||||||
chr14:77547297 | G | A | 1 | a0001c0001t0001g0119 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.1303+4799C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77547297 | |||||||
chr14:77547443 | C | G | 1 | a0001c0001t0004g0016 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1303+4653G>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77547443 | |||||||
chr14:77547700 | C | A | 1 | a0001c0003t0023g0132 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1303+4396G>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77547700 | |||||||
chr14:77547735 | T | C | 9 | a0001c0001t0024g0220 a0001c0002t0005g0075 a0001c0002t0005g0076 others(6): Show |
9 | HG01891.hp1 HG02572.hp1 HG02615.hp1 others(6): Show |
intron_variant | MODIFIER | c.1303+4361A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77547735 | |||||||
chr14:77547760 | G | A | 48 | a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0036 others(45): Show |
49 | HG00099.hp1 HG00408.hp2 HG00438.hp1 others(46): Show |
intron_variant | MODIFIER | c.1303+4336C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77547760 | |||||||
chr14:77547811 | C | G | 12 | a0001c0001t0001g0216 a0001c0001t0004g0005 a0001c0001t0004g0006 others(9): Show |
12 | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(9): Show |
intron_variant | MODIFIER | c.1303+4285G>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77547811 | |||||||
chr14:77547826 | T | C | 1 | a0001c0001t0030g0160 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1303+4270A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77547826 | |||||||
chr14:77547874 | C | CT | 7 | a0001c0002t0002g0025 a0001c0002t0002g0195 a0001c0002t0002g0197 others(4): Show |
7 | HG01243.hp1 HG02647.hp2 HG02818.hp1 others(4): Show |
intron_variant | MODIFIER | c.1303+4221dupA | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77547874 | |||||||
chr14:77547874 | CT | C | 9 | a0001c0002t0007g0236 a0001c0002t0007g0238 a0001c0002t0007g0240 others(6): Show |
9 | HG02109.hp2 HG02280.hp1 HG02486.hp2 others(6): Show |
intron_variant | MODIFIER | c.1303+4221delA | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77547874 | |||||||
chr14:77547874 | CTT | C | 16 | a0001c0001t0001g0079 a0001c0001t0001g0101 a0001c0001t0001g0133 others(13): Show |
16 | HG00621.hp1 HG00733.hp1 HG01069.hp2 others(13): Show |
intron_variant | MODIFIER | c.1303+4220_1303+422 others(6): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77547874 | |||||||
chr14:77547874 | CTTT | C | 112 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(109): Show |
113 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(110): Show |
intron_variant | MODIFIER | c.1303+4219_1303+422 others(7): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77547874 | |||||||
chr14:77547874 | CTTTT | C | 40 | a0001c0001t0001g0023 a0001c0001t0001g0031 a0001c0001t0001g0041 others(37): Show |
40 | HG00558.hp2 HG01109.hp1 HG01358.hp2 others(37): Show |
intron_variant | MODIFIER | c.1303+4218_1303+422 others(8): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77547874 | |||||||
chr14:77547874 | CTTTTT | C | 28 | a0001c0001t0001g0129 a0001c0001t0002g0070 a0001c0001t0003g0064 others(25): Show |
28 | HG00323.hp2 HG01071.hp2 HG01081.hp2 others(25): Show |
intron_variant | MODIFIER | c.1303+4217_1303+422 others(9): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77547874 | |||||||
chr14:77547938 | G | A | 9 | a0001c0001t0024g0220 a0001c0002t0005g0075 a0001c0002t0005g0076 others(6): Show |
9 | HG01891.hp1 HG02572.hp1 HG02615.hp1 others(6): Show |
intron_variant | MODIFIER | c.1303+4158C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77547938 | |||||||
chr14:77548026 | C | T | 2 | a0001c0001t0021g0003 a0001c0001t0039g0100 |
2 | HG01081.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.1303+4070G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77548026 | |||||||
chr14:77548083 | C | G | 12 | a0001c0001t0024g0220 a0001c0002t0005g0075 a0001c0002t0005g0076 others(9): Show |
12 | HG01891.hp1 HG02559.hp2 HG02572.hp1 others(9): Show |
intron_variant | MODIFIER | c.1303+4013G>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77548083 | |||||||
chr14:77548372 | C | T | 7 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0008g0118 others(4): Show |
7 | HG00408.hp1 NA18747.hp1 NA18946.hp2 others(4): Show |
intron_variant | MODIFIER | c.1303+3724G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77548372 | |||||||
chr14:77548455 | G | T | 9 | a0001c0001t0024g0220 a0001c0002t0005g0075 a0001c0002t0005g0076 others(6): Show |
9 | HG01891.hp1 HG02572.hp1 HG02615.hp1 others(6): Show |
intron_variant | MODIFIER | c.1303+3641C>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77548455 | |||||||
chr14:77548503 | C | T | 225 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(222): Show |
226 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(223): Show |
intron_variant | MODIFIER | c.1303+3593G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77548503 | |||||||
chr14:77548613 | A | T | 16 | a0001c0001t0001g0041 a0001c0001t0003g0014 a0001c0001t0003g0015 others(13): Show |
16 | HG01109.hp1 HG01358.hp2 HG02071.hp2 others(13): Show |
intron_variant | MODIFIER | c.1303+3483T>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77548613 | |||||||
chr14:77548616 | C | T | 2 | a0001c0001t0004g0029 a0001c0003t0023g0132 |
2 | HG01884.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.1303+3480G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77548616 | |||||||
chr14:77548627 | C | T | 2 | a0001c0004t0004g0190 a0002c0007t0042g0128 |
2 | HG02717.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.1303+3469G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77548627 | |||||||
chr14:77548711 | T | C | 12 | a0001c0001t0001g0216 a0001c0001t0004g0005 a0001c0001t0004g0006 others(9): Show |
12 | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(9): Show |
intron_variant | MODIFIER | c.1303+3385A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77548711 | |||||||
chr14:77548760 | G | A | 47 | a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0040 others(44): Show |
47 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(44): Show |
intron_variant | MODIFIER | c.1303+3336C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77548760 | |||||||
chr14:77548789 | C | T | 225 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(222): Show |
226 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(223): Show |
intron_variant | MODIFIER | c.1303+3307G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77548789 | |||||||
chr14:77548959 | A | C | 36 | a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0023 others(33): Show |
36 | HG00558.hp1 HG00642.hp1 HG00733.hp1 others(33): Show |
intron_variant | MODIFIER | c.1303+3137T>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77548959 | |||||||
chr14:77549227 | C | CA | 57 | a0001c0001t0001g0018 a0001c0001t0001g0041 a0001c0001t0001g0129 others(54): Show |
57 | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(54): Show |
intron_variant | MODIFIER | c.1303+2868dupT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77549227 | |||||||
chr14:77549227 | C | CAA | 76 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0022 others(73): Show |
77 | HG00099.hp1 HG00408.hp2 HG00438.hp1 others(74): Show |
intron_variant | MODIFIER | c.1303+2867_1303+286 others(6): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77549227 | |||||||
chr14:77549370 | G | A | 1 | a0001c0001t0008g0118 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.1303+2726C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77549370 | |||||||
chr14:77549421 | C | T | 3 | a0001c0006t0018g0017 a0001c0006t0018g0074 a0001c0006t0022g0004 |
3 | HG02559.hp2 HG02922.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.1303+2675G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77549421 | |||||||
chr14:77549427 | C | G | 9 | a0001c0001t0024g0220 a0001c0002t0005g0075 a0001c0002t0005g0076 others(6): Show |
9 | HG01891.hp1 HG02572.hp1 HG02615.hp1 others(6): Show |
intron_variant | MODIFIER | c.1303+2669G>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77549427 | |||||||
chr14:77549518 | C | T | 2 | a0001c0005t0037g0055 a0001c0005t0038g0138 |
2 | HG02145.hp2 HG02559.hp1 |
intron_variant | MODIFIER | c.1303+2578G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77549518 | |||||||
chr14:77549554 | C | T | 48 | a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0036 others(45): Show |
49 | HG00099.hp1 HG00408.hp2 HG00438.hp1 others(46): Show |
intron_variant | MODIFIER | c.1303+2542G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77549554 | |||||||
chr14:77549667 | T | C | 1 | a0001c0001t0004g0228 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.1303+2429A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77549667 | |||||||
chr14:77549696 | T | C | 2 | a0001c0002t0003g0032 a0001c0002t0003g0061 |
2 | HG01358.hp1 HG01975.hp1 |
intron_variant | MODIFIER | c.1303+2400A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77549696 | |||||||
chr14:77549928 | T | C | 36 | a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0023 others(33): Show |
36 | HG00558.hp1 HG00642.hp1 HG00733.hp1 others(33): Show |
intron_variant | MODIFIER | c.1303+2168A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77549928 | |||||||
chr14:77549934 | A | G | 1 | a0001c0001t0043g0026 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1303+2162T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77549934 | |||||||
chr14:77550202 | C | G | 2 | a0001c0001t0004g0029 a0001c0003t0023g0132 |
2 | HG01884.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.1303+1894G>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77550202 | |||||||
chr14:77550301 | G | A | 88 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(85): Show |
89 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(86): Show |
intron_variant | MODIFIER | c.1303+1795C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77550301 | |||||||
chr14:77550338 | G | A | 88 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(85): Show |
89 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(86): Show |
intron_variant | MODIFIER | c.1303+1758C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77550338 | |||||||
chr14:77550393 | G | A | 12 | a0001c0001t0001g0216 a0001c0001t0004g0005 a0001c0001t0004g0006 others(9): Show |
12 | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(9): Show |
intron_variant | MODIFIER | c.1303+1703C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77550393 | |||||||
chr14:77550401 | C | G | 1 | a0001c0001t0003g0064 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1303+1695G>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77550401 | |||||||
chr14:77550536 | T | C | 9 | a0001c0002t0007g0236 a0001c0002t0007g0238 a0001c0002t0007g0239 others(6): Show |
9 | HG02109.hp2 HG02280.hp1 HG02486.hp2 others(6): Show |
intron_variant | MODIFIER | c.1303+1560A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77550536 | |||||||
chr14:77550594 | G | GGAAAA | 36 | a0001c0001t0001g0041 a0001c0001t0002g0070 a0001c0001t0003g0014 others(33): Show |
36 | HG01081.hp2 HG01109.hp1 HG01168.hp2 others(33): Show |
intron_variant | MODIFIER | c.1303+1497_1303+150 others(9): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77550594 | |||||||
chr14:77550646 | A | C | 7 | a0001c0001t0004g0029 a0001c0001t0030g0160 a0001c0001t0043g0026 others(4): Show |
7 | HG01884.hp1 HG02145.hp2 HG02559.hp1 others(4): Show |
intron_variant | MODIFIER | c.1303+1450T>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77550646 | |||||||
chr14:77550669 | AG | A | 48 | a0001c0001t0001g0041 a0001c0001t0001g0216 a0001c0001t0002g0070 others(45): Show |
48 | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(45): Show |
intron_variant | MODIFIER | c.1303+1426delC | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77550669 | |||||||
chr14:77550809 | C | G | 33 | a0001c0001t0001g0041 a0001c0001t0002g0070 a0001c0001t0003g0014 others(30): Show |
33 | HG01081.hp2 HG01109.hp1 HG01358.hp2 others(30): Show |
intron_variant | MODIFIER | c.1303+1287G>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77550809 | |||||||
chr14:77550817 | T | A | 1 | a0001c0001t0001g0217 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.1303+1279A>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77550817 | |||||||
chr14:77550836 | G | A | 9 | a0001c0001t0024g0220 a0001c0002t0005g0075 a0001c0002t0005g0076 others(6): Show |
9 | HG01891.hp1 HG02572.hp1 HG02615.hp1 others(6): Show |
intron_variant | MODIFIER | c.1303+1260C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77550836 | |||||||
chr14:77550841 | T | C | 1 | a0001c0001t0030g0160 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1303+1255A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77550841 | |||||||
chr14:77550879 | G | A | 95 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(92): Show |
96 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(93): Show |
intron_variant | MODIFIER | c.1303+1217C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77550879 | |||||||
chr14:77550918 | G | GA | 207 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(204): Show |
208 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(205): Show |
intron_variant | MODIFIER | c.1303+1177dupT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77550918 | |||||||
chr14:77550918 | G | GAA | 18 | a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0152 others(15): Show |
18 | HG02080.hp1 HG02109.hp2 HG02145.hp2 others(15): Show |
intron_variant | MODIFIER | c.1303+1176_1303+117 others(6): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77550918 | |||||||
chr14:77550975 | C | T | 3 | a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0167 |
3 | HG01257.hp2 HG01258.hp2 HG03017.hp1 |
intron_variant | MODIFIER | c.1303+1121G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77550975 | |||||||
chr14:77550978 | T | C | 95 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(92): Show |
96 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(93): Show |
intron_variant | MODIFIER | c.1303+1118A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77550978 | |||||||
chr14:77550989 | C | T | 9 | a0001c0001t0024g0220 a0001c0002t0005g0075 a0001c0002t0005g0076 others(6): Show |
9 | HG01891.hp1 HG02572.hp1 HG02615.hp1 others(6): Show |
intron_variant | MODIFIER | c.1303+1107G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77550989 | |||||||
chr14:77551114 | C | A | 9 | a0001c0001t0024g0220 a0001c0002t0005g0075 a0001c0002t0005g0076 others(6): Show |
9 | HG01891.hp1 HG02572.hp1 HG02615.hp1 others(6): Show |
intron_variant | MODIFIER | c.1303+982G>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77551114 | |||||||
chr14:77551146 | C | T | 9 | a0001c0002t0007g0236 a0001c0002t0007g0238 a0001c0002t0007g0239 others(6): Show |
9 | HG02109.hp2 HG02280.hp1 HG02486.hp2 others(6): Show |
intron_variant | MODIFIER | c.1303+950G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77551146 | |||||||
chr14:77551190 | G | A | 1 | a0001c0001t0001g0069 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.1303+906C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77551190 | |||||||
chr14:77551342 | G | GATCACAC others(1): Show |
88 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(85): Show |
89 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(86): Show |
intron_variant | MODIFIER | c.1303+746_1303+753d others(10): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77551342 | |||||||
chr14:77551390 | C | CA | 9 | a0001c0001t0001g0046 a0001c0001t0001g0059 a0001c0001t0001g0086 others(6): Show |
9 | HG00438.hp2 HG01106.hp2 HG01258.hp2 others(6): Show |
intron_variant | MODIFIER | c.1303+705dupT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77551390 | |||||||
chr14:77551390 | C | CAA | 5 | a0001c0001t0001g0022 a0001c0002t0003g0032 a0001c0002t0003g0061 others(2): Show |
5 | HG01358.hp1 HG01928.hp2 HG01975.hp1 others(2): Show |
intron_variant | MODIFIER | c.1303+704_1303+705d others(4): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77551390 | |||||||
chr14:77551390 | C | CAAAA | 12 | a0001c0001t0008g0126 a0001c0001t0008g0172 a0001c0001t0011g0105 others(9): Show |
12 | HG00642.hp2 HG00735.hp2 HG00741.hp1 others(9): Show |
intron_variant | MODIFIER | c.1303+702_1303+705d others(6): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77551390 | |||||||
chr14:77551390 | CA | C | 119 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(116): Show |
120 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(117): Show |
intron_variant | MODIFIER | c.1303+705delT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77551390 | |||||||
chr14:77551445 | A | G | 88 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(85): Show |
89 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(86): Show |
intron_variant | MODIFIER | c.1303+651T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77551445 | |||||||
chr14:77551477 | C | T | 9 | a0001c0002t0007g0236 a0001c0002t0007g0238 a0001c0002t0007g0239 others(6): Show |
9 | HG02109.hp2 HG02280.hp1 HG02486.hp2 others(6): Show |
intron_variant | MODIFIER | c.1303+619G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77551477 | |||||||
chr14:77551490 | C | T | 88 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(85): Show |
89 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(86): Show |
intron_variant | MODIFIER | c.1303+606G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77551490 | |||||||
chr14:77551775 | C | A | 1 | a0001c0001t0001g0164 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.1303+321G>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77551775 | |||||||
chr14:77551830 | T | C | 5 | a0001c0002t0005g0075 a0001c0002t0005g0076 a0001c0002t0005g0187 others(2): Show |
5 | HG02572.hp1 HG02615.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.1303+266A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77551830 | |||||||
chr14:77551863 | G | C | 7 | a0001c0001t0004g0029 a0001c0001t0030g0160 a0001c0001t0043g0026 others(4): Show |
7 | HG01884.hp1 HG02145.hp2 HG02559.hp1 others(4): Show |
intron_variant | MODIFIER | c.1303+233C>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77551863 | |||||||
chr14:77551881 | A | T | 1 | a0001c0006t0022g0004 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.1303+215T>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77551881 | |||||||
chr14:77551903 | T | C | 88 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(85): Show |
89 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(86): Show |
intron_variant | MODIFIER | c.1303+193A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77551903 | |||||||
chr14:77551991 | C | G | 1 | a0001c0001t0008g0118 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.1303+105G>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | 77551991 | |||||||
chr14:77552271 | C | T | 225 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(222): Show |
226 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(223): Show |
intron_variant | MODIFIER | c.1177-49G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 8/11 | chr14 | 77552271 | |||||||
chr14:77552357 | G | T | 2 | a0001c0001t0021g0003 a0001c0001t0039g0100 |
2 | HG01081.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.1177-135C>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 8/11 | chr14 | 77552357 | |||||||
chr14:77552422 | G | A | 1 | a0001c0001t0001g0042 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.1177-200C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 8/11 | chr14 | 77552422 | |||||||
chr14:77552434 | T | A | 2 | a0001c0001t0013g0027 a0001c0001t0013g0028 |
2 | HG01109.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.1177-212A>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 8/11 | chr14 | 77552434 | |||||||
chr14:77552539 | C | T | 7 | a0001c0001t0004g0029 a0001c0001t0030g0160 a0001c0001t0043g0026 others(4): Show |
7 | HG01884.hp1 HG02145.hp2 HG02559.hp1 others(4): Show |
intron_variant | MODIFIER | c.1177-317G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 8/11 | chr14 | 77552539 | |||||||
chr14:77552557 | G | A | 1 | a0001c0001t0003g0221 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.1177-335C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 8/11 | chr14 | 77552557 | |||||||
chr14:77552738 | G | A | 12 | a0001c0001t0004g0016 a0001c0002t0007g0236 a0001c0002t0007g0238 others(9): Show |
12 | HG02109.hp2 HG02280.hp1 HG02486.hp2 others(9): Show |
intron_variant | MODIFIER | c.1177-516C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 8/11 | chr14 | 77552738 | |||||||
chr14:77552763 | G | A | 89 | a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0023 others(86): Show |
89 | HG00408.hp1 HG00558.hp1 HG00642.hp1 others(86): Show |
intron_variant | MODIFIER | c.1177-541C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 8/11 | chr14 | 77552763 | |||||||
chr14:77552800 | C | T | 1 | a0001c0001t0001g0018 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1177-578G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 8/11 | chr14 | 77552800 | |||||||
chr14:77552805 | TA | T | 16 | a0001c0001t0001g0010 a0001c0001t0001g0031 a0001c0001t0001g0034 others(13): Show |
16 | HG00738.hp1 HG01069.hp2 HG01099.hp1 others(13): Show |
intron_variant | MODIFIER | c.1177-584delT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 8/11 | chr14 | 77552805 | |||||||
chr14:77552805 | TAA | T | 100 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(97): Show |
101 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(98): Show |
intron_variant | MODIFIER | c.1177-585_1177-584d others(4): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 8/11 | chr14 | 77552805 | |||||||
chr14:77552805 | TAAAA | T | 36 | a0001c0001t0001g0041 a0001c0001t0001g0216 a0001c0001t0002g0070 others(33): Show |
36 | HG00280.hp2 HG00323.hp2 HG01071.hp2 others(33): Show |
intron_variant | MODIFIER | c.1177-587_1177-584d others(6): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 8/11 | chr14 | 77552805 | |||||||
chr14:77552805 | TAAAAA | T | 12 | a0001c0001t0003g0221 a0001c0001t0004g0005 a0001c0001t0005g0127 others(9): Show |
12 | HG01069.hp1 HG01168.hp2 HG01884.hp2 others(9): Show |
intron_variant | MODIFIER | c.1177-588_1177-584d others(7): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 8/11 | chr14 | 77552805 | |||||||
chr14:77552965 | TA | T | 8 | a0001c0001t0024g0220 a0001c0002t0005g0075 a0001c0002t0005g0076 others(5): Show |
8 | HG01891.hp1 HG02572.hp1 HG02615.hp1 others(5): Show |
intron_variant | MODIFIER | c.1177-744delT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 8/11 | chr14 | 77552965 | |||||||
chr14:77552984 | A | C | 1 | a0001c0001t0043g0026 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1177-762T>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 8/11 | chr14 | 77552984 | |||||||
chr14:77553084 | A | G | 1 | a0001c0001t0001g0147 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.1177-862T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 8/11 | chr14 | 77553084 | |||||||
chr14:77553263 | C | A | 88 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(85): Show |
89 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(86): Show |
intron_variant | MODIFIER | c.1177-1041G>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 8/11 | chr14 | 77553263 | |||||||
chr14:77553341 | T | G | 1 | a0001c0004t0004g0190 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.1177-1119A>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 8/11 | chr14 | 77553341 | |||||||
chr14:77553409 | T | C | 1 | a0001c0001t0001g0054 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.1177-1187A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 8/11 | chr14 | 77553409 | |||||||
chr14:77553426 | T | C | 7 | a0001c0001t0001g0040 a0001c0001t0001g0048 a0001c0001t0001g0050 others(4): Show |
7 | HG01981.hp1 HG02165.hp2 NA18948.hp2 others(4): Show |
intron_variant | MODIFIER | c.1177-1204A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 8/11 | chr14 | 77553426 | |||||||
chr14:77553440 | T | G | 18 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0008g0118 others(15): Show |
18 | HG00408.hp1 HG00642.hp2 HG00735.hp2 others(15): Show |
intron_variant | MODIFIER | c.1177-1218A>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 8/11 | chr14 | 77553440 | |||||||
chr14:77553453 | C | T | 1 | a0001c0011t0041g0078 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.1177-1231G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 8/11 | chr14 | 77553453 | |||||||
chr14:77553537 | C | T | 48 | a0001c0001t0001g0041 a0001c0001t0001g0216 a0001c0001t0002g0070 others(45): Show |
48 | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(45): Show |
intron_variant | MODIFIER | c.1177-1315G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 8/11 | chr14 | 77553537 | |||||||
chr14:77553540 | G | A | 70 | a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0023 others(67): Show |
70 | HG00408.hp1 HG00558.hp1 HG00642.hp1 others(67): Show |
intron_variant | MODIFIER | c.1177-1318C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 8/11 | chr14 | 77553540 | |||||||
chr14:77553582 | T | C | 2 | a0001c0004t0004g0190 a0002c0007t0042g0128 |
2 | HG02717.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.1177-1360A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 8/11 | chr14 | 77553582 | |||||||
chr14:77553729 | C | CA | 100 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(97): Show |
101 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(98): Show |
intron_variant | MODIFIER | c.1177-1508dupT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 8/11 | chr14 | 77553729 | |||||||
chr14:77553729 | C | CAA | 33 | a0001c0001t0001g0041 a0001c0001t0001g0091 a0001c0001t0001g0096 others(30): Show |
33 | HG00408.hp2 HG01168.hp2 HG01358.hp1 others(30): Show |
intron_variant | MODIFIER | c.1177-1509_1177-150 others(6): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 8/11 | chr14 | 77553729 | |||||||
chr14:77553729 | C | CAAA | 19 | a0001c0001t0001g0033 a0001c0001t0003g0064 a0001c0001t0004g0016 others(16): Show |
19 | HG01975.hp2 HG02145.hp1 HG02293.hp2 others(16): Show |
intron_variant | MODIFIER | c.1177-1510_1177-150 others(7): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 8/11 | chr14 | 77553729 | |||||||
chr14:77553729 | C | CAAAA | 15 | a0001c0001t0001g0010 a0001c0001t0001g0034 a0001c0001t0001g0059 others(12): Show |
15 | HG00280.hp2 HG00323.hp2 HG00738.hp1 others(12): Show |
intron_variant | MODIFIER | c.1177-1511_1177-150 others(8): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 8/11 | chr14 | 77553729 | |||||||
chr14:77553729 | C | CAAAAA | 28 | a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0031 others(25): Show |
28 | HG00558.hp1 HG00733.hp1 HG01069.hp2 others(25): Show |
intron_variant | MODIFIER | c.1177-1512_1177-150 others(9): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 8/11 | chr14 | 77553729 | |||||||
chr14:77553729 | C | CAAAAAA | 6 | a0001c0001t0001g0023 a0001c0001t0001g0046 a0001c0001t0001g0054 others(3): Show |
6 | HG00642.hp1 HG01106.hp2 HG03516.hp1 others(3): Show |
intron_variant | MODIFIER | c.1177-1513_1177-150 others(10): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 8/11 | chr14 | 77553729 | |||||||
chr14:77553749 | A | T | 11 | a0001c0001t0011g0105 a0001c0001t0011g0106 a0001c0002t0006g0104 others(8): Show |
11 | HG00642.hp2 HG00735.hp2 HG00741.hp1 others(8): Show |
intron_variant | MODIFIER | c.1177-1527T>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 8/11 | chr14 | 77553749 | |||||||
chr14:77553881 | C | T | 48 | a0001c0001t0001g0041 a0001c0001t0001g0216 a0001c0001t0002g0070 others(45): Show |
48 | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(45): Show |
intron_variant | MODIFIER | c.1176+1419G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 8/11 | chr14 | 77553881 | |||||||
chr14:77553947 | T | C | 88 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(85): Show |
89 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(86): Show |
intron_variant | MODIFIER | c.1176+1353A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 8/11 | chr14 | 77553947 | |||||||
chr14:77554060 | C | T | 2 | a0001c0006t0018g0074 a0001c0006t0022g0004 |
2 | HG02922.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.1176+1240G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 8/11 | chr14 | 77554060 | |||||||
chr14:77554114 | A | G | 18 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0008g0118 others(15): Show |
18 | HG00408.hp1 HG00642.hp2 HG00735.hp2 others(15): Show |
intron_variant | MODIFIER | c.1176+1186T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 8/11 | chr14 | 77554114 | |||||||
chr14:77554295 | G | A | 1 | a0001c0001t0012g0227 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.1176+1005C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 8/11 | chr14 | 77554295 | |||||||
chr14:77554310 | T | C | 1 | a0001c0001t0035g0122 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.1176+990A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 8/11 | chr14 | 77554310 | |||||||
chr14:77554329 | C | T | 5 | a0001c0002t0005g0075 a0001c0002t0005g0076 a0001c0002t0005g0187 others(2): Show |
5 | HG02572.hp1 HG02615.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.1176+971G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 8/11 | chr14 | 77554329 | |||||||
chr14:77554388 | C | T | 89 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(86): Show |
90 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(87): Show |
intron_variant | MODIFIER | c.1176+912G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 8/11 | chr14 | 77554388 | |||||||
chr14:77554431 | C | T | 3 | a0001c0006t0018g0017 a0001c0006t0018g0074 a0001c0006t0022g0004 |
3 | HG02559.hp2 HG02922.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.1176+869G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 8/11 | chr14 | 77554431 | |||||||
chr14:77554507 | G | A | 1 | a0001c0003t0017g0063 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.1176+793C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 8/11 | chr14 | 77554507 | |||||||
chr14:77554509 | G | C | 1 | a0001c0001t0001g0052 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1176+791C>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 8/11 | chr14 | 77554509 | |||||||
chr14:77554637 | T | C | 3 | a0001c0006t0018g0017 a0001c0006t0018g0074 a0001c0006t0022g0004 |
3 | HG02559.hp2 HG02922.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.1176+663A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 8/11 | chr14 | 77554637 | |||||||
chr14:77554654 | G | A | 88 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(85): Show |
89 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(86): Show |
intron_variant | MODIFIER | c.1176+646C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 8/11 | chr14 | 77554654 | |||||||
chr14:77554670 | T | C | 10 | a0001c0002t0007g0236 a0001c0002t0007g0238 a0001c0002t0007g0239 others(7): Show |
10 | HG02109.hp2 HG02280.hp1 HG02486.hp2 others(7): Show |
intron_variant | MODIFIER | c.1176+630A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 8/11 | chr14 | 77554670 | |||||||
chr14:77554691 | G | A | 3 | a0001c0006t0018g0017 a0001c0006t0018g0074 a0001c0006t0022g0004 |
3 | HG02559.hp2 HG02922.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.1176+609C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 8/11 | chr14 | 77554691 | |||||||
chr14:77554774 | C | T | 88 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(85): Show |
89 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(86): Show |
intron_variant | MODIFIER | c.1176+526G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 8/11 | chr14 | 77554774 | |||||||
chr14:77554775 | G | A | 3 | a0001c0006t0018g0017 a0001c0006t0018g0074 a0001c0006t0022g0004 |
3 | HG02559.hp2 HG02922.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.1176+525C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 8/11 | chr14 | 77554775 | |||||||
chr14:77554861 | C | T | 3 | a0001c0001t0001g0096 a0001c0001t0009g0084 a0001c0001t0009g0085 |
3 | NA18953.hp1 NA18995.hp1 NA19010.hp1 |
intron_variant | MODIFIER | c.1176+439G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 8/11 | chr14 | 77554861 | |||||||
chr14:77554924 | G | C | 88 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(85): Show |
89 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(86): Show |
intron_variant | MODIFIER | c.1176+376C>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 8/11 | chr14 | 77554924 | |||||||
chr14:77555038 | T | G | 1 | a0001c0001t0026g0159 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.1176+262A>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 8/11 | chr14 | 77555038 | |||||||
chr14:77555202 | G | A | 1 | a0001c0001t0005g0182 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.1176+98C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 8/11 | chr14 | 77555202 | |||||||
chr14:77555235 | C | G | 1 | a0001c0001t0045g0163 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.1176+65G>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 8/11 | chr14 | 77555235 | |||||||
chr14:77555272 | T | C | 1 | a0001c0001t0025g0019 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.1176+28A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 8/11 | chr14 | 77555272 | |||||||
chr14:77555293 | C | T | 2 | a0001c0006t0018g0074 a0001c0006t0022g0004 |
2 | HG02922.hp1 HG02965.hp1 |
splice_region_variant&intron_variant | LOW | c.1176+7G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 8/11 | chr14 | 77555293 | |||||||
chr14:77555609 | G | A | 12 | a0001c0001t0001g0216 a0001c0001t0004g0005 a0001c0001t0004g0006 others(9): Show |
12 | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(9): Show |
intron_variant | MODIFIER | c.957-90C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 7/11 | chr14 | 77555609 | |||||||
chr14:77555630 | T | C | 1 | a0001c0005t0007g0242 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.957-111A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 7/11 | chr14 | 77555630 | |||||||
chr14:77555651 | C | T | 7 | a0001c0001t0004g0029 a0001c0001t0030g0160 a0001c0001t0043g0026 others(4): Show |
7 | HG01884.hp1 HG02145.hp2 HG02559.hp1 others(4): Show |
intron_variant | MODIFIER | c.957-132G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 7/11 | chr14 | 77555651 | |||||||
chr14:77555667 | G | T | 48 | a0001c0001t0001g0041 a0001c0001t0001g0216 a0001c0001t0002g0070 others(45): Show |
48 | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(45): Show |
intron_variant | MODIFIER | c.957-148C>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 7/11 | chr14 | 77555667 | |||||||
chr14:77555764 | C | T | 10 | a0001c0002t0007g0236 a0001c0002t0007g0238 a0001c0002t0007g0239 others(7): Show |
10 | HG02109.hp2 HG02280.hp1 HG02486.hp2 others(7): Show |
intron_variant | MODIFIER | c.957-245G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 7/11 | chr14 | 77555764 | |||||||
chr14:77555926 | T | G | 2 | a0001c0001t0001g0216 a0001c0001t0004g0228 |
2 | HG00280.hp2 HG04228.hp1 |
intron_variant | MODIFIER | c.957-407A>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 7/11 | chr14 | 77555926 | |||||||
chr14:77555939 | G | A | 2 | a0001c0005t0037g0055 a0001c0005t0038g0138 |
2 | HG02145.hp2 HG02559.hp1 |
intron_variant | MODIFIER | c.957-420C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 7/11 | chr14 | 77555939 | |||||||
chr14:77556048 | C | T | 1 | a0001c0001t0003g0221 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.957-529G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 7/11 | chr14 | 77556048 | |||||||
chr14:77556050 | C | T | 1 | a0001c0001t0001g0140 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.957-531G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 7/11 | chr14 | 77556050 | |||||||
chr14:77556051 | G | A | 12 | a0001c0001t0005g0073 a0001c0001t0005g0127 a0001c0001t0005g0178 others(9): Show |
12 | HG01081.hp2 HG01884.hp2 HG02293.hp2 others(9): Show |
intron_variant | MODIFIER | c.957-532C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 7/11 | chr14 | 77556051 | |||||||
chr14:77556216 | G | A | 48 | a0001c0001t0001g0041 a0001c0001t0001g0216 a0001c0001t0002g0070 others(45): Show |
48 | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(45): Show |
intron_variant | MODIFIER | c.957-697C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 7/11 | chr14 | 77556216 | |||||||
chr14:77556242 | A | G | 88 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(85): Show |
89 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(86): Show |
intron_variant | MODIFIER | c.957-723T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 7/11 | chr14 | 77556242 | |||||||
chr14:77556312 | T | TA | 11 | a0001c0001t0001g0216 a0001c0001t0004g0005 a0001c0001t0004g0006 others(8): Show |
11 | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(8): Show |
intron_variant | MODIFIER | c.956+728dupT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 7/11 | chr14 | 77556312 | |||||||
chr14:77556320 | A | G | 79 | a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0023 others(76): Show |
79 | HG00408.hp1 HG00558.hp1 HG00642.hp1 others(76): Show |
intron_variant | MODIFIER | c.956+721T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 7/11 | chr14 | 77556320 | |||||||
chr14:77556342 | A | T | 3 | a0001c0006t0018g0017 a0001c0006t0018g0074 a0001c0006t0022g0004 |
3 | HG02559.hp2 HG02922.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.956+699T>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 7/11 | chr14 | 77556342 | |||||||
chr14:77556343 | CA | C | 89 | a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0023 others(86): Show |
89 | HG00408.hp1 HG00558.hp1 HG00642.hp1 others(86): Show |
intron_variant | MODIFIER | c.956+697delT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 7/11 | chr14 | 77556343 | |||||||
chr14:77556354 | C | A | 7 | a0001c0001t0004g0029 a0001c0001t0030g0160 a0001c0001t0043g0026 others(4): Show |
7 | HG01884.hp1 HG02145.hp2 HG02559.hp1 others(4): Show |
intron_variant | MODIFIER | c.956+687G>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 7/11 | chr14 | 77556354 | |||||||
chr14:77556380 | C | T | 1 | a0001c0005t0037g0055 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.956+661G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 7/11 | chr14 | 77556380 | |||||||
chr14:77556381 | G | A | 5 | a0001c0002t0005g0075 a0001c0002t0005g0076 a0001c0002t0005g0187 others(2): Show |
5 | HG02572.hp1 HG02615.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.956+660C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 7/11 | chr14 | 77556381 | |||||||
chr14:77556396 | G | T | 18 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0008g0118 others(15): Show |
18 | HG00408.hp1 HG00642.hp2 HG00735.hp2 others(15): Show |
intron_variant | MODIFIER | c.956+645C>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 7/11 | chr14 | 77556396 | |||||||
chr14:77556454 | G | A | 88 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(85): Show |
89 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(86): Show |
intron_variant | MODIFIER | c.956+587C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 7/11 | chr14 | 77556454 | |||||||
chr14:77556459 | A | C | 10 | a0001c0002t0007g0236 a0001c0002t0007g0238 a0001c0002t0007g0239 others(7): Show |
10 | HG02109.hp2 HG02280.hp1 HG02486.hp2 others(7): Show |
intron_variant | MODIFIER | c.956+582T>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 7/11 | chr14 | 77556459 | |||||||
chr14:77556495 | T | C | 1 | a0001c0001t0003g0221 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.956+546A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 7/11 | chr14 | 77556495 | |||||||
chr14:77556503 | TA | T | 88 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(85): Show |
89 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(86): Show |
intron_variant | MODIFIER | c.956+537delT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 7/11 | chr14 | 77556503 | |||||||
chr14:77556512 | G | T | 18 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0008g0118 others(15): Show |
18 | HG00408.hp1 HG00642.hp2 HG00735.hp2 others(15): Show |
intron_variant | MODIFIER | c.956+529C>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 7/11 | chr14 | 77556512 | |||||||
chr14:77556573 | T | C | 1 | a0001c0001t0001g0216 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.956+468A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 7/11 | chr14 | 77556573 | |||||||
chr14:77556627 | G | A | 1 | a0001c0001t0001g0018 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.956+414C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 7/11 | chr14 | 77556627 | |||||||
chr14:77556630 | C | T | 2 | a0001c0001t0003g0184 a0001c0001t0003g0185 |
2 | HG03471.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.956+411G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 7/11 | chr14 | 77556630 | |||||||
chr14:77556639 | A | C | 1 | a0002c0007t0042g0128 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.956+402T>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 7/11 | chr14 | 77556639 | |||||||
chr14:77556644 | T | G | 225 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(222): Show |
226 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(223): Show |
intron_variant | MODIFIER | c.956+397A>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 7/11 | chr14 | 77556644 | |||||||
chr14:77556672 | G | A | 88 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(85): Show |
89 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(86): Show |
intron_variant | MODIFIER | c.956+369C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 7/11 | chr14 | 77556672 | |||||||
chr14:77556728 | ATTTGT | A | 88 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(85): Show |
89 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(86): Show |
intron_variant | MODIFIER | c.956+308_956+312del others(5): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 7/11 | chr14 | 77556728 | |||||||
chr14:77556841 | A | G | 2 | a0001c0001t0001g0092 a0001c0001t0001g0095 |
2 | NA18946.hp1 NA18981.hp2 |
intron_variant | MODIFIER | c.956+200T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 7/11 | chr14 | 77556841 | |||||||
chr14:77557176 | C | G | 99 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(96): Show |
100 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(97): Show |
intron_variant | MODIFIER | c.851-30G>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | 77557176 | |||||||
chr14:77557215 | A | G | 2 | a0001c0001t0001g0087 a0001c0001t0001g0155 |
2 | HG02083.hp2 NA19087.hp1 |
intron_variant | MODIFIER | c.851-69T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | 77557215 | |||||||
chr14:77557300 | G | A | 2 | a0001c0002t0002g0199 a0001c0002t0002g0200 |
2 | HG02723.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.851-154C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | 77557300 | |||||||
chr14:77557306 | T | C | 2 | a0001c0001t0001g0119 a0001c0001t0001g0120 |
2 | HG00408.hp1 NA18747.hp1 |
intron_variant | MODIFIER | c.851-160A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | 77557306 | |||||||
chr14:77557371 | A | G | 108 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(105): Show |
109 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(106): Show |
intron_variant | MODIFIER | c.851-225T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | 77557371 | |||||||
chr14:77557411 | T | C | 2 | a0001c0002t0003g0032 a0001c0002t0003g0061 |
2 | HG01358.hp1 HG01975.hp1 |
intron_variant | MODIFIER | c.851-265A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | 77557411 | |||||||
chr14:77557439 | C | T | 37 | a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0023 others(34): Show |
37 | HG00558.hp1 HG00642.hp1 HG00738.hp1 others(34): Show |
intron_variant | MODIFIER | c.851-293G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | 77557439 | |||||||
chr14:77557467 | G | A | 10 | a0001c0001t0003g0221 a0001c0001t0005g0127 a0001c0001t0005g0178 others(7): Show |
10 | HG01168.hp2 HG01884.hp2 HG02293.hp2 others(7): Show |
intron_variant | MODIFIER | c.851-321C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | 77557467 | |||||||
chr14:77557654 | A | G | 1 | a0002c0007t0042g0128 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.851-508T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | 77557654 | |||||||
chr14:77557718 | A | G | 1 | a0001c0001t0003g0064 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.851-572T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | 77557718 | |||||||
chr14:77557804 | T | C | 1 | a0001c0001t0030g0160 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.851-658A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | 77557804 | |||||||
chr14:77558051 | C | CTT | 6 | a0001c0001t0001g0217 a0001c0001t0003g0116 a0001c0001t0003g0117 others(3): Show |
6 | HG00733.hp1 HG01257.hp2 HG01258.hp2 others(3): Show |
intron_variant | MODIFIER | c.851-907_851-906dup others(2): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | 77558051 | |||||||
chr14:77558051 | CT | C | 121 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0022 others(118): Show |
122 | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(119): Show |
intron_variant | MODIFIER | c.851-906delA | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | 77558051 | |||||||
chr14:77558057 | T | C | 1 | a0001c0002t0002g0200 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.851-911A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | 77558057 | |||||||
chr14:77558105 | T | C | 6 | a0001c0001t0001g0217 a0001c0001t0003g0116 a0001c0001t0003g0117 others(3): Show |
6 | HG00733.hp1 HG01257.hp2 HG01258.hp2 others(3): Show |
intron_variant | MODIFIER | c.851-959A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | 77558105 | |||||||
chr14:77558139 | C | G | 1 | a0002c0007t0042g0128 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.851-993G>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | 77558139 | |||||||
chr14:77558275 | A | C | 2 | a0001c0001t0004g0007 a0001c0001t0004g0008 |
2 | HG01256.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.851-1129T>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | 77558275 | |||||||
chr14:77558508 | C | T | 5 | a0001c0001t0005g0073 a0001c0001t0021g0003 a0001c0001t0030g0160 others(2): Show |
5 | HG01081.hp2 HG02965.hp2 HG03098.hp2 others(2): Show |
intron_variant | MODIFIER | c.851-1362G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | 77558508 | |||||||
chr14:77558583 | A | G | 187 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(184): Show |
188 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(185): Show |
intron_variant | MODIFIER | c.851-1437T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | 77558583 | |||||||
chr14:77558626 | G | GT | 130 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(127): Show |
131 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(128): Show |
intron_variant | MODIFIER | c.851-1481dupA | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | 77558626 | |||||||
chr14:77558626 | G | GTT | 5 | a0001c0001t0001g0089 a0001c0001t0001g0133 a0001c0001t0001g0155 others(2): Show |
5 | HG00621.hp2 HG02738.hp2 HG03098.hp2 others(2): Show |
intron_variant | MODIFIER | c.851-1482_851-1481d others(4): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | 77558626 | |||||||
chr14:77558704 | C | G | 1 | a0001c0001t0005g0175 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.851-1558G>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | 77558704 | |||||||
chr14:77558704 | C | T | 1 | a0001c0002t0028g0173 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.851-1558G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | 77558704 | |||||||
chr14:77558707 | C | T | 5 | a0001c0001t0001g0082 a0001c0001t0001g0096 a0001c0001t0001g0102 others(2): Show |
5 | NA18950.hp1 NA18953.hp1 NA18968.hp1 others(2): Show |
intron_variant | MODIFIER | c.851-1561G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | 77558707 | |||||||
chr14:77558907 | T | C | 52 | a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0023 others(49): Show |
52 | HG00621.hp1 HG00642.hp1 HG00738.hp1 others(49): Show |
intron_variant | MODIFIER | c.851-1761A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | 77558907 | |||||||
chr14:77558913 | G | T | 2 | a0001c0001t0001g0119 a0001c0001t0001g0120 |
2 | HG00408.hp1 NA18747.hp1 |
intron_variant | MODIFIER | c.851-1767C>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | 77558913 | |||||||
chr14:77558942 | C | T | 3 | a0001c0001t0004g0029 a0001c0001t0013g0027 a0001c0001t0013g0028 |
3 | HG01109.hp1 HG01884.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.851-1796G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | 77558942 | |||||||
chr14:77558973 | C | T | 6 | a0001c0001t0001g0217 a0001c0001t0003g0116 a0001c0001t0003g0117 others(3): Show |
6 | HG00733.hp1 HG01257.hp2 HG01258.hp2 others(3): Show |
intron_variant | MODIFIER | c.851-1827G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | 77558973 | |||||||
chr14:77559012 | T | C | 3 | a0001c0001t0005g0175 a0001c0001t0005g0180 a0001c0003t0023g0132 |
3 | HG01167.hp2 HG02630.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.851-1866A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | 77559012 | |||||||
chr14:77559085 | C | A | 9 | a0001c0002t0007g0236 a0001c0002t0007g0238 a0001c0002t0007g0239 others(6): Show |
9 | HG02109.hp2 HG02280.hp1 HG02486.hp2 others(6): Show |
intron_variant | MODIFIER | c.851-1939G>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | 77559085 | |||||||
chr14:77559096 | A | G | 225 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(222): Show |
226 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(223): Show |
intron_variant | MODIFIER | c.851-1950T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | 77559096 | |||||||
chr14:77559237 | C | T | 61 | a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0023 others(58): Show |
61 | HG00621.hp1 HG00642.hp1 HG00733.hp1 others(58): Show |
intron_variant | MODIFIER | c.851-2091G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | 77559237 | |||||||
chr14:77559279 | C | T | 13 | a0001c0002t0001g0103 a0001c0002t0003g0032 a0001c0002t0003g0061 others(10): Show |
13 | HG00741.hp1 HG01123.hp2 HG01255.hp2 others(10): Show |
intron_variant | MODIFIER | c.851-2133G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | 77559279 | |||||||
chr14:77559385 | T | C | 225 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(222): Show |
226 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(223): Show |
intron_variant | MODIFIER | c.851-2239A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | 77559385 | |||||||
chr14:77559462 | G | A | 17 | a0001c0002t0005g0075 a0001c0002t0005g0076 a0001c0002t0005g0187 others(14): Show |
17 | HG01891.hp1 HG02109.hp2 HG02280.hp1 others(14): Show |
intron_variant | MODIFIER | c.851-2316C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | 77559462 | |||||||
chr14:77559512 | G | A | 1 | a0001c0001t0048g0234 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.851-2366C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | 77559512 | |||||||
chr14:77559604 | T | C | 2 | a0001c0002t0005g0075 a0001c0002t0005g0076 |
2 | HG03486.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.851-2458A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | 77559604 | |||||||
chr14:77559710 | C | G | 1 | a0001c0001t0001g0170 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.851-2564G>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | 77559710 | |||||||
chr14:77559773 | C | T | 1 | a0001c0001t0001g0208 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.850+2623G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | 77559773 | |||||||
chr14:77559777 | G | C | 61 | a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0023 others(58): Show |
61 | HG00621.hp1 HG00642.hp1 HG00733.hp1 others(58): Show |
intron_variant | MODIFIER | c.850+2619C>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | 77559777 | |||||||
chr14:77559881 | A | G | 1 | a0001c0002t0028g0173 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.850+2515T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | 77559881 | |||||||
chr14:77559898 | T | A | 1 | a0001c0001t0001g0217 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.850+2498A>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | 77559898 | |||||||
chr14:77560041 | G | A | 1 | a0001c0004t0004g0190 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.850+2355C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | 77560041 | |||||||
chr14:77560214 | A | T | 198 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(195): Show |
199 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(196): Show |
intron_variant | MODIFIER | c.850+2182T>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | 77560214 | |||||||
chr14:77560265 | T | C | 2 | a0001c0001t0005g0073 a0001c0001t0030g0160 |
2 | HG02965.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.850+2131A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | 77560265 | |||||||
chr14:77560307 | G | A | 61 | a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0023 others(58): Show |
61 | HG00621.hp1 HG00642.hp1 HG00733.hp1 others(58): Show |
intron_variant | MODIFIER | c.850+2089C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | 77560307 | |||||||
chr14:77560418 | T | G | 1 | a0001c0003t0017g0063 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.850+1978A>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | 77560418 | |||||||
chr14:77560456 | A | T | 1 | a0001c0002t0005g0188 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.850+1940T>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | 77560456 | |||||||
chr14:77560630 | AAT | A | 203 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(200): Show |
204 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(201): Show |
intron_variant | MODIFIER | c.850+1764_850+1765d others(4): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | 77560630 | |||||||
chr14:77560632 | T | A | 2 | a0001c0002t0006g0123 a0001c0002t0006g0153 |
2 | HG02698.hp1 HG04204.hp2 |
intron_variant | MODIFIER | c.850+1764A>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | 77560632 | |||||||
chr14:77560634 | T | A | 3 | a0001c0005t0007g0242 a0001c0005t0037g0055 a0001c0005t0038g0138 |
3 | HG02145.hp2 HG02559.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.850+1762A>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | 77560634 | |||||||
chr14:77560784 | C | T | 17 | a0001c0002t0005g0075 a0001c0002t0005g0076 a0001c0002t0005g0187 others(14): Show |
17 | HG01891.hp1 HG02109.hp2 HG02280.hp1 others(14): Show |
intron_variant | MODIFIER | c.850+1612G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | 77560784 | |||||||
chr14:77560900 | ACTAC | A | 212 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(209): Show |
213 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(210): Show |
intron_variant | MODIFIER | c.850+1492_850+1495d others(6): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | 77560900 | |||||||
chr14:77561027 | G | GA | 121 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(118): Show |
122 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(119): Show |
intron_variant | MODIFIER | c.850+1368dupT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | 77561027 | |||||||
chr14:77561027 | GA | G | 88 | a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0023 others(85): Show |
88 | HG00408.hp1 HG00621.hp1 HG00642.hp1 others(85): Show |
intron_variant | MODIFIER | c.850+1368delT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | 77561027 | |||||||
chr14:77561181 | T | C | 1 | a0002c0007t0042g0128 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.850+1215A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | 77561181 | |||||||
chr14:77561343 | C | T | 4 | a0001c0001t0001g0042 a0001c0001t0001g0051 a0001c0001t0001g0052 others(1): Show |
4 | HG01167.hp1 HG02148.hp2 HG02257.hp1 others(1): Show |
intron_variant | MODIFIER | c.850+1053G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | 77561343 | |||||||
chr14:77561480 | G | A | 17 | a0001c0002t0005g0075 a0001c0002t0005g0076 a0001c0002t0005g0187 others(14): Show |
17 | HG01891.hp1 HG02109.hp2 HG02280.hp1 others(14): Show |
intron_variant | MODIFIER | c.850+916C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | 77561480 | |||||||
chr14:77561482 | G | A | 1 | a0001c0002t0006g0114 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.850+914C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | 77561482 | |||||||
chr14:77561611 | CA | C | 24 | a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0211 others(21): Show |
24 | HG00323.hp1 HG00741.hp2 HG01081.hp2 others(21): Show |
intron_variant | MODIFIER | c.850+784delT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | 77561611 | |||||||
chr14:77561751 | G | A | 2 | a0001c0002t0006g0123 a0001c0002t0006g0153 |
2 | HG02698.hp1 HG04204.hp2 |
intron_variant | MODIFIER | c.850+645C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | 77561751 | |||||||
chr14:77561886 | C | T | 2 | a0001c0001t0003g0184 a0001c0001t0003g0185 |
2 | HG03471.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.850+510G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | 77561886 | |||||||
chr14:77561959 | A | T | 3 | a0001c0001t0021g0003 a0001c0001t0039g0100 a0001c0001t0043g0026 |
3 | HG01081.hp2 HG03098.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.850+437T>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | 77561959 | |||||||
chr14:77562035 | C | T | 61 | a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0023 others(58): Show |
61 | HG00621.hp1 HG00642.hp1 HG00733.hp1 others(58): Show |
intron_variant | MODIFIER | c.850+361G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | 77562035 | |||||||
chr14:77562059 | G | A | 3 | a0001c0001t0021g0003 a0001c0001t0039g0100 a0001c0001t0043g0026 |
3 | HG01081.hp2 HG03098.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.850+337C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | 77562059 | |||||||
chr14:77562059 | G | T | 109 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(106): Show |
110 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(107): Show |
intron_variant | MODIFIER | c.850+337C>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | 77562059 | |||||||
chr14:77562362 | C | T | 9 | a0001c0001t0004g0005 a0001c0001t0004g0006 a0001c0001t0004g0007 others(6): Show |
9 | HG00323.hp2 HG01069.hp1 HG01071.hp2 others(6): Show |
intron_variant | MODIFIER | c.850+34G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | 77562362 | |||||||
chr14:77562739 | C | T | 225 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(222): Show |
226 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(223): Show |
intron_variant | MODIFIER | c.757-250G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77562739 | |||||||
chr14:77562816 | C | T | 1 | a0001c0001t0031g0043 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.757-327G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77562816 | |||||||
chr14:77562845 | C | A | 3 | a0001c0001t0021g0003 a0001c0001t0039g0100 a0001c0001t0043g0026 |
3 | HG01081.hp2 HG03098.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.757-356G>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77562845 | |||||||
chr14:77562986 | C | T | 4 | a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 others(1): Show |
4 | HG01071.hp1 HG01081.hp1 HG01255.hp1 others(1): Show |
intron_variant | MODIFIER | c.757-497G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77562986 | |||||||
chr14:77563086 | G | GT | 18 | a0001c0001t0001g0133 a0001c0002t0005g0075 a0001c0002t0005g0076 others(15): Show |
18 | HG01891.hp1 HG02109.hp2 HG02280.hp1 others(15): Show |
intron_variant | MODIFIER | c.757-598dupA | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77563086 | |||||||
chr14:77563140 | C | T | 3 | a0001c0001t0021g0003 a0001c0001t0039g0100 a0001c0001t0043g0026 |
3 | HG01081.hp2 HG03098.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.757-651G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77563140 | |||||||
chr14:77563200 | A | G | 2 | a0001c0002t0010g0065 a0001c0002t0010g0066 |
2 | HG01891.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.757-711T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77563200 | |||||||
chr14:77563202 | T | C | 1 | a0001c0001t0001g0069 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.757-713A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77563202 | |||||||
chr14:77563528 | C | T | 3 | a0001c0001t0005g0175 a0001c0001t0005g0180 a0001c0003t0023g0132 |
3 | HG01167.hp2 HG02630.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.757-1039G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77563528 | |||||||
chr14:77563546 | G | A | 52 | a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0023 others(49): Show |
52 | HG00621.hp1 HG00642.hp1 HG00738.hp1 others(49): Show |
intron_variant | MODIFIER | c.757-1057C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77563546 | |||||||
chr14:77563589 | C | T | 3 | a0001c0005t0007g0242 a0001c0005t0037g0055 a0001c0005t0038g0138 |
3 | HG02145.hp2 HG02559.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.757-1100G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77563589 | |||||||
chr14:77563650 | C | T | 195 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(192): Show |
196 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(193): Show |
intron_variant | MODIFIER | c.757-1161G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77563650 | |||||||
chr14:77563892 | G | T | 2 | a0001c0001t0005g0073 a0001c0001t0030g0160 |
2 | HG02965.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.757-1403C>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77563892 | |||||||
chr14:77563926 | T | TA | 3 | a0001c0001t0021g0003 a0001c0001t0039g0100 a0001c0001t0043g0026 |
3 | HG01081.hp2 HG03098.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.757-1438dupT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77563926 | |||||||
chr14:77563933 | G | A | 3 | a0001c0001t0021g0003 a0001c0001t0039g0100 a0001c0001t0043g0026 |
3 | HG01081.hp2 HG03098.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.757-1444C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77563933 | |||||||
chr14:77563941 | G | GTTAAAAA others(8): Show |
2 | a0001c0005t0007g0242 a0001c0005t0038g0138 |
2 | HG02145.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.757-1467_757-1453d others(17): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77563941 | |||||||
chr14:77563969 | T | G | 1 | a0001c0001t0002g0070 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.757-1480A>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77563969 | |||||||
chr14:77564044 | G | T | 2 | a0001c0001t0005g0175 a0001c0001t0005g0180 |
2 | HG01167.hp2 HG02630.hp2 |
intron_variant | MODIFIER | c.757-1555C>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77564044 | |||||||
chr14:77564050 | G | A | 1 | a0002c0007t0042g0128 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.757-1561C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77564050 | |||||||
chr14:77564136 | C | G | 225 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(222): Show |
226 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(223): Show |
intron_variant | MODIFIER | c.757-1647G>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77564136 | |||||||
chr14:77564159 | T | A | 1 | a0001c0001t0002g0070 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.757-1670A>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77564159 | |||||||
chr14:77564236 | G | GA | 83 | a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0023 others(80): Show |
83 | HG00621.hp1 HG00642.hp1 HG00738.hp1 others(80): Show |
intron_variant | MODIFIER | c.757-1748dupT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77564236 | |||||||
chr14:77564236 | G | GAA | 117 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(114): Show |
118 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(115): Show |
intron_variant | MODIFIER | c.757-1749_757-1748d others(4): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77564236 | |||||||
chr14:77564236 | G | GAAA | 12 | a0001c0001t0001g0155 a0001c0001t0003g0221 a0001c0001t0005g0127 others(9): Show |
12 | HG01168.hp2 HG01496.hp2 HG01884.hp2 others(9): Show |
intron_variant | MODIFIER | c.757-1750_757-1748d others(5): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77564236 | |||||||
chr14:77564236 | G | T | 2 | a0001c0001t0005g0073 a0001c0001t0030g0160 |
2 | HG02965.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.757-1747C>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77564236 | |||||||
chr14:77564237 | A | G | 1 | a0001c0001t0045g0163 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.757-1748T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77564237 | |||||||
chr14:77564253 | G | A | 1 | a0001c0001t0014g0099 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.757-1764C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77564253 | |||||||
chr14:77564254 | G | A | 1 | a0001c0001t0014g0099 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.757-1765C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77564254 | |||||||
chr14:77564268 | A | G | 1 | a0001c0001t0002g0070 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.757-1779T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77564268 | |||||||
chr14:77564269 | G | A | 1 | a0001c0001t0002g0070 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.757-1780C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77564269 | |||||||
chr14:77564278 | GAGGAGGA others(20): Show |
G | 9 | a0001c0001t0004g0005 a0001c0001t0004g0006 a0001c0001t0004g0007 others(6): Show |
9 | HG00323.hp2 HG01069.hp1 HG01071.hp2 others(6): Show |
intron_variant | MODIFIER | c.757-1816_757-1790d others(29): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77564278 | |||||||
chr14:77564287 | AAGGAGGA others(5): Show |
A | 60 | a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0023 others(57): Show |
60 | HG00621.hp1 HG00642.hp1 HG00733.hp1 others(57): Show |
intron_variant | MODIFIER | c.757-1810_757-1799d others(14): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77564287 | |||||||
chr14:77564290 | GAGGAAGA others(8): Show |
G | 1 | a0001c0001t0002g0070 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.757-1816_757-1802d others(17): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77564290 | |||||||
chr14:77564305 | AAGG | A | 3 | a0001c0001t0021g0003 a0001c0001t0039g0100 a0001c0001t0043g0026 |
3 | HG01081.hp2 HG03098.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.757-1819_757-1817d others(5): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77564305 | |||||||
chr14:77564308 | G | A | 1 | a0001c0001t0002g0070 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.757-1819C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77564308 | |||||||
chr14:77564342 | A | G | 1 | a0001c0001t0002g0070 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.757-1853T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77564342 | |||||||
chr14:77564356 | G | A | 3 | a0001c0001t0021g0003 a0001c0001t0039g0100 a0001c0001t0043g0026 |
3 | HG01081.hp2 HG03098.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.757-1867C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77564356 | |||||||
chr14:77564397 | GCATACAC others(15): Show |
G | 1 | a0001c0001t0001g0052 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.757-1930_757-1909d others(24): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77564397 | |||||||
chr14:77564400 | T | TAC | 6 | a0001c0001t0005g0175 a0001c0001t0005g0178 a0001c0001t0014g0131 others(3): Show |
6 | HG01167.hp2 HG01496.hp2 HG02293.hp2 others(3): Show |
intron_variant | MODIFIER | c.757-1913_757-1912d others(4): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77564400 | |||||||
chr14:77564400 | T | TACACAC | 3 | a0001c0001t0005g0180 a0001c0001t0030g0160 a0001c0002t0029g0186 |
3 | HG02630.hp2 HG02965.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.757-1917_757-1912d others(8): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77564400 | |||||||
chr14:77564400 | TAC | T | 8 | a0001c0001t0001g0115 a0001c0001t0001g0120 a0001c0001t0003g0221 others(5): Show |
8 | HG00408.hp1 HG01168.hp2 HG01243.hp1 others(5): Show |
intron_variant | MODIFIER | c.757-1913_757-1912d others(4): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77564400 | |||||||
chr14:77564400 | TACAC | T | 7 | a0001c0001t0001g0119 a0001c0001t0008g0118 a0001c0001t0008g0124 others(4): Show |
7 | HG02071.hp1 HG03579.hp1 NA18747.hp1 others(4): Show |
intron_variant | MODIFIER | c.757-1915_757-1912d others(6): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77564400 | |||||||
chr14:77564400 | TACACAC | T | 20 | a0001c0001t0001g0217 a0001c0001t0003g0116 a0001c0001t0003g0117 others(17): Show |
20 | HG00733.hp1 HG00741.hp1 HG01123.hp2 others(17): Show |
intron_variant | MODIFIER | c.757-1917_757-1912d others(8): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77564400 | |||||||
chr14:77564400 | TACACACA others(1): Show |
T | 10 | a0001c0001t0003g0185 a0001c0001t0003g0218 a0001c0001t0003g0219 others(7): Show |
10 | HG01515.hp2 HG01517.hp2 HG02145.hp1 others(7): Show |
intron_variant | MODIFIER | c.757-1919_757-1912d others(10): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77564400 | |||||||
chr14:77564400 | TACACACA others(3): Show |
T | 10 | a0001c0001t0003g0184 a0001c0001t0003g0189 a0001c0001t0019g0245 others(7): Show |
10 | HG01358.hp2 HG02451.hp2 HG02572.hp2 others(7): Show |
intron_variant | MODIFIER | c.757-1921_757-1912d others(12): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77564400 | |||||||
chr14:77564400 | TACACACA others(5): Show |
T | 28 | a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0023 others(25): Show |
28 | HG00642.hp1 HG00738.hp1 HG01109.hp1 others(25): Show |
intron_variant | MODIFIER | c.757-1923_757-1912d others(14): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77564400 | |||||||
chr14:77564400 | TACACACA others(7): Show |
T | 4 | a0001c0001t0021g0003 a0001c0001t0025g0019 a0001c0001t0039g0100 others(1): Show |
4 | HG01081.hp2 HG02976.hp2 HG03098.hp2 others(1): Show |
intron_variant | MODIFIER | c.757-1925_757-1912d others(16): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77564400 | |||||||
chr14:77564400 | TACACACA others(9): Show |
T | 5 | a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0060 others(2): Show |
5 | HG00621.hp1 HG01099.hp1 HG01255.hp1 others(2): Show |
intron_variant | MODIFIER | c.757-1927_757-1912d others(18): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77564400 | |||||||
chr14:77564400 | TACACACA others(11): Show |
T | 48 | a0001c0001t0001g0001 a0001c0001t0001g0036 a0001c0001t0001g0037 others(45): Show |
49 | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(46): Show |
intron_variant | MODIFIER | c.757-1929_757-1912d others(20): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77564400 | |||||||
chr14:77564400 | TACACACA others(13): Show |
T | 49 | a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0030 others(46): Show |
49 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(46): Show |
intron_variant | MODIFIER | c.757-1931_757-1912d others(22): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77564400 | |||||||
chr14:77564400 | TACACACA others(17): Show |
T | 27 | a0001c0001t0001g0095 a0001c0001t0004g0005 a0001c0001t0004g0006 others(24): Show |
27 | HG00323.hp2 HG01069.hp1 HG01071.hp2 others(24): Show |
intron_variant | MODIFIER | c.757-1935_757-1912d others(26): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77564400 | |||||||
chr14:77564438 | C | A | 3 | a0001c0001t0021g0003 a0001c0001t0039g0100 a0001c0001t0043g0026 |
3 | HG01081.hp2 HG03098.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.757-1949G>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77564438 | |||||||
chr14:77564474 | C | T | 1 | a0001c0001t0001g0057 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.757-1985G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77564474 | |||||||
chr14:77564699 | TA | T | 6 | a0001c0001t0002g0070 a0001c0001t0008g0124 a0001c0001t0021g0003 others(3): Show |
6 | HG01081.hp2 HG02109.hp1 HG02965.hp2 others(3): Show |
intron_variant | MODIFIER | c.757-2211delT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77564699 | |||||||
chr14:77564823 | TAAAAATA others(6): Show |
T | 105 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(102): Show |
106 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(103): Show |
intron_variant | MODIFIER | c.757-2347_757-2335d others(15): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77564823 | |||||||
chr14:77564838 | A | G | 11 | a0001c0001t0003g0221 a0001c0001t0005g0127 a0001c0001t0005g0178 others(8): Show |
11 | HG01168.hp2 HG01496.hp2 HG01884.hp2 others(8): Show |
intron_variant | MODIFIER | c.757-2349T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77564838 | |||||||
chr14:77564966 | G | A | 62 | a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0023 others(59): Show |
62 | HG00621.hp1 HG00642.hp1 HG00733.hp1 others(59): Show |
intron_variant | MODIFIER | c.757-2477C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77564966 | |||||||
chr14:77565064 | A | C | 1 | a0001c0001t0002g0070 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.757-2575T>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77565064 | |||||||
chr14:77565203 | C | T | 225 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(222): Show |
226 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(223): Show |
intron_variant | MODIFIER | c.757-2714G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77565203 | |||||||
chr14:77565242 | C | CA | 52 | a0001c0001t0001g0030 a0001c0001t0001g0040 a0001c0001t0001g0044 others(49): Show |
52 | HG00280.hp1 HG00280.hp2 HG00438.hp1 others(49): Show |
intron_variant | MODIFIER | c.757-2754dupT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77565242 | |||||||
chr14:77565242 | C | CAA | 17 | a0001c0001t0001g0079 a0001c0001t0001g0092 a0001c0001t0001g0095 others(14): Show |
17 | HG00323.hp2 HG01071.hp2 HG01256.hp2 others(14): Show |
intron_variant | MODIFIER | c.757-2755_757-2754d others(4): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77565242 | |||||||
chr14:77565242 | C | CAAAA | 9 | a0001c0001t0003g0221 a0001c0001t0005g0175 a0001c0001t0005g0178 others(6): Show |
9 | HG01167.hp2 HG01168.hp2 HG01496.hp2 others(6): Show |
intron_variant | MODIFIER | c.757-2757_757-2754d others(6): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77565242 | |||||||
chr14:77565242 | CA | C | 64 | a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0024 others(61): Show |
64 | HG00621.hp1 HG00642.hp1 HG00733.hp1 others(61): Show |
intron_variant | MODIFIER | c.757-2754delT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77565242 | |||||||
chr14:77565263 | A | T | 1 | a0001c0001t0002g0070 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.757-2774T>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77565263 | |||||||
chr14:77565318 | A | T | 1 | a0001c0001t0002g0070 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.757-2829T>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77565318 | |||||||
chr14:77565319 | G | C | 17 | a0001c0002t0005g0075 a0001c0002t0005g0076 a0001c0002t0005g0187 others(14): Show |
17 | HG01891.hp1 HG02109.hp2 HG02280.hp1 others(14): Show |
intron_variant | MODIFIER | c.757-2830C>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77565319 | |||||||
chr14:77565355 | C | G | 2 | a0001c0006t0018g0074 a0001c0006t0022g0004 |
2 | HG02922.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.757-2866G>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77565355 | |||||||
chr14:77565398 | A | G | 6 | a0001c0001t0003g0221 a0001c0001t0005g0179 a0001c0001t0005g0223 others(3): Show |
6 | HG01168.hp2 HG01496.hp2 HG02602.hp1 others(3): Show |
intron_variant | MODIFIER | c.757-2909T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77565398 | |||||||
chr14:77565430 | C | T | 186 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(183): Show |
187 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(184): Show |
intron_variant | MODIFIER | c.757-2941G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77565430 | |||||||
chr14:77565451 | A | G | 4 | a0001c0001t0001g0022 a0001c0001t0001g0033 a0001c0001t0001g0034 others(1): Show |
4 | HG01256.hp1 HG01928.hp2 HG01975.hp2 others(1): Show |
intron_variant | MODIFIER | c.757-2962T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77565451 | |||||||
chr14:77565500 | G | A | 1 | a0001c0003t0023g0132 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.757-3011C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77565500 | |||||||
chr14:77565503 | T | A | 1 | a0001c0003t0017g0063 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.757-3014A>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77565503 | |||||||
chr14:77565526 | T | A | 4 | a0001c0003t0017g0063 a0001c0005t0007g0242 a0001c0005t0037g0055 others(1): Show |
4 | HG02145.hp2 HG02559.hp1 HG02717.hp1 others(1): Show |
intron_variant | MODIFIER | c.757-3037A>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77565526 | |||||||
chr14:77565634 | G | C | 174 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(171): Show |
175 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(172): Show |
intron_variant | MODIFIER | c.757-3145C>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77565634 | |||||||
chr14:77565637 | G | C | 2 | a0001c0001t0001g0077 a0001c0001t0001g0088 |
2 | HG01978.hp1 HG02293.hp1 |
intron_variant | MODIFIER | c.757-3148C>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77565637 | |||||||
chr14:77565770 | C | T | 1 | a0001c0001t0001g0024 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.757-3281G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77565770 | |||||||
chr14:77565892 | T | C | 1 | a0001c0001t0001g0133 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.757-3403A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77565892 | |||||||
chr14:77566079 | G | A | 7 | a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0013 others(4): Show |
7 | HG02451.hp2 HG02572.hp2 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.757-3590C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77566079 | |||||||
chr14:77566088 | T | C | 7 | a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0013 others(4): Show |
7 | HG02451.hp2 HG02572.hp2 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.757-3599A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77566088 | |||||||
chr14:77566172 | CTTTTTAG others(7): Show |
C | 37 | a0001c0001t0001g0059 a0001c0001t0001g0115 a0001c0001t0001g0119 others(34): Show |
37 | HG00408.hp1 HG00741.hp1 HG01081.hp2 others(34): Show |
intron_variant | MODIFIER | c.757-3697_757-3684d others(16): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77566172 | |||||||
chr14:77566207 | G | C | 37 | a0001c0001t0001g0059 a0001c0001t0001g0115 a0001c0001t0001g0119 others(34): Show |
37 | HG00408.hp1 HG00741.hp1 HG01081.hp2 others(34): Show |
intron_variant | MODIFIER | c.757-3718C>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77566207 | |||||||
chr14:77566279 | A | T | 1 | a0001c0001t0002g0070 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.757-3790T>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77566279 | |||||||
chr14:77566453 | T | G | 5 | a0001c0002t0005g0075 a0001c0002t0005g0076 a0001c0002t0005g0187 others(2): Show |
5 | HG02572.hp1 HG02615.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.756+3931A>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77566453 | |||||||
chr14:77566507 | C | T | 37 | a0001c0001t0001g0059 a0001c0001t0001g0115 a0001c0001t0001g0119 others(34): Show |
37 | HG00408.hp1 HG00741.hp1 HG01081.hp2 others(34): Show |
intron_variant | MODIFIER | c.756+3877G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77566507 | |||||||
chr14:77566589 | C | A | 7 | a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0013 others(4): Show |
7 | HG02451.hp2 HG02572.hp2 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.756+3795G>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77566589 | |||||||
chr14:77566614 | T | A | 149 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(146): Show |
150 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(147): Show |
intron_variant | MODIFIER | c.756+3770A>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77566614 | |||||||
chr14:77566756 | G | A | 1 | a0001c0001t0001g0157 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.756+3628C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77566756 | |||||||
chr14:77566875 | GTA | G | 95 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(92): Show |
96 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(93): Show |
intron_variant | MODIFIER | c.756+3507_756+3508d others(4): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77566875 | |||||||
chr14:77566905 | A | G | 7 | a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 others(4): Show |
7 | HG01071.hp1 HG01081.hp1 HG01106.hp2 others(4): Show |
intron_variant | MODIFIER | c.756+3479T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77566905 | |||||||
chr14:77566965 | T | G | 3 | a0001c0001t0021g0003 a0001c0001t0039g0100 a0001c0001t0043g0026 |
3 | HG01081.hp2 HG03098.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.756+3419A>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77566965 | |||||||
chr14:77566978 | CTT | C | 15 | a0001c0001t0001g0059 a0001c0001t0005g0127 a0001c0001t0005g0178 others(12): Show |
15 | HG01358.hp1 HG01496.hp2 HG01884.hp2 others(12): Show |
intron_variant | MODIFIER | c.756+3404_756+3405d others(4): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77566978 | |||||||
chr14:77566994 | G | A | 3 | a0001c0001t0021g0003 a0001c0001t0039g0100 a0001c0001t0043g0026 |
3 | HG01081.hp2 HG03098.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.756+3390C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77566994 | |||||||
chr14:77567001 | C | T | 3 | a0001c0004t0004g0141 a0001c0004t0004g0142 a0001c0004t0004g0183 |
3 | HG02622.hp2 HG03579.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.756+3383G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77567001 | |||||||
chr14:77567007 | G | A | 1 | a0001c0002t0002g0192 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.756+3377C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77567007 | |||||||
chr14:77567033 | C | T | 1 | a0001c0001t0026g0159 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.756+3351G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77567033 | |||||||
chr14:77567034 | G | A | 1 | a0001c0001t0012g0227 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.756+3350C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77567034 | |||||||
chr14:77567120 | G | A | 1 | a0002c0007t0042g0128 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.756+3264C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77567120 | |||||||
chr14:77567127 | C | T | 2 | a0001c0001t0001g0147 a0001c0001t0026g0159 |
2 | HG02145.hp1 HG02523.hp1 |
intron_variant | MODIFIER | c.756+3257G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77567127 | |||||||
chr14:77567161 | AAGGTTTC others(10): Show |
A | 1 | a0001c0001t0002g0070 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.756+3206_756+3222d others(19): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77567161 | |||||||
chr14:77567245 | T | C | 225 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(222): Show |
226 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(223): Show |
intron_variant | MODIFIER | c.756+3139A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77567245 | |||||||
chr14:77567332 | A | C | 2 | a0001c0001t0005g0175 a0001c0001t0005g0180 |
2 | HG01167.hp2 HG02630.hp2 |
intron_variant | MODIFIER | c.756+3052T>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77567332 | |||||||
chr14:77567370 | T | C | 223 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(220): Show |
224 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(221): Show |
intron_variant | MODIFIER | c.756+3014A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77567370 | |||||||
chr14:77567404 | A | G | 7 | a0001c0002t0005g0075 a0001c0002t0005g0076 a0001c0002t0005g0187 others(4): Show |
7 | HG01891.hp1 HG02572.hp1 HG02615.hp1 others(4): Show |
intron_variant | MODIFIER | c.756+2980T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77567404 | |||||||
chr14:77567432 | C | T | 6 | a0001c0001t0001g0217 a0001c0001t0003g0116 a0001c0001t0003g0117 others(3): Show |
6 | HG00733.hp1 HG01257.hp2 HG01258.hp2 others(3): Show |
intron_variant | MODIFIER | c.756+2952G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77567432 | |||||||
chr14:77567520 | A | G | 134 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(131): Show |
135 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(132): Show |
intron_variant | MODIFIER | c.756+2864T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77567520 | |||||||
chr14:77567534 | AGTT | A | 3 | a0001c0001t0021g0003 a0001c0001t0039g0100 a0001c0001t0043g0026 |
3 | HG01081.hp2 HG03098.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.756+2847_756+2849d others(5): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77567534 | |||||||
chr14:77567562 | T | C | 7 | a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0013 others(4): Show |
7 | HG02451.hp2 HG02572.hp2 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.756+2822A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77567562 | |||||||
chr14:77567593 | C | A | 1 | a0001c0001t0005g0045 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.756+2791G>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77567593 | |||||||
chr14:77567658 | C | G | 134 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(131): Show |
135 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(132): Show |
intron_variant | MODIFIER | c.756+2726G>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77567658 | |||||||
chr14:77567730 | C | T | 1 | a0001c0001t0001g0082 | 1 | NA18968.hp1 | intron_variant | MODIFIER | c.756+2654G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77567730 | |||||||
chr14:77567768 | T | G | 19 | a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0120 others(16): Show |
19 | HG00408.hp1 HG00741.hp1 HG01123.hp2 others(16): Show |
intron_variant | MODIFIER | c.756+2616A>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77567768 | |||||||
chr14:77567796 | GTTT | G | 134 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(131): Show |
135 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(132): Show |
intron_variant | MODIFIER | c.756+2585_756+2587d others(5): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77567796 | |||||||
chr14:77567833 | C | CTTT | 129 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(126): Show |
130 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(127): Show |
intron_variant | MODIFIER | c.756+2548_756+2550d others(5): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77567833 | |||||||
chr14:77567884 | G | T | 1 | a0001c0001t0001g0165 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.756+2500C>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77567884 | |||||||
chr14:77567908 | C | T | 3 | a0001c0001t0021g0003 a0001c0001t0039g0100 a0001c0001t0043g0026 |
3 | HG01081.hp2 HG03098.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.756+2476G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77567908 | |||||||
chr14:77568124 | C | T | 15 | a0001c0001t0001g0059 a0001c0001t0005g0127 a0001c0001t0005g0178 others(12): Show |
15 | HG01358.hp1 HG01496.hp2 HG01884.hp2 others(12): Show |
intron_variant | MODIFIER | c.756+2260G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77568124 | |||||||
chr14:77568168 | A | C | 7 | a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0013 others(4): Show |
7 | HG02451.hp2 HG02572.hp2 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.756+2216T>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77568168 | |||||||
chr14:77568188 | T | C | 52 | a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0023 others(49): Show |
52 | HG00621.hp1 HG00642.hp1 HG00733.hp1 others(49): Show |
intron_variant | MODIFIER | c.756+2196A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77568188 | |||||||
chr14:77568272 | TTTGTG | T | 3 | a0001c0001t0001g0059 a0001c0002t0003g0032 a0001c0002t0003g0061 |
3 | HG01358.hp1 HG01975.hp1 HG01993.hp2 |
intron_variant | MODIFIER | c.756+2107_756+2111d others(7): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77568272 | |||||||
chr14:77568331 | T | C | 3 | a0001c0001t0021g0003 a0001c0001t0039g0100 a0001c0001t0043g0026 |
3 | HG01081.hp2 HG03098.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.756+2053A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77568331 | |||||||
chr14:77568436 | T | C | 19 | a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0120 others(16): Show |
19 | HG00408.hp1 HG00741.hp1 HG01123.hp2 others(16): Show |
intron_variant | MODIFIER | c.756+1948A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77568436 | |||||||
chr14:77568635 | C | T | 1 | a0001c0001t0045g0163 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.756+1749G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77568635 | |||||||
chr14:77568732 | C | T | 12 | a0001c0001t0003g0221 a0001c0001t0004g0005 a0001c0001t0004g0006 others(9): Show |
12 | HG00323.hp2 HG01069.hp1 HG01071.hp2 others(9): Show |
intron_variant | MODIFIER | c.756+1652G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77568732 | |||||||
chr14:77568757 | G | A | 2 | a0001c0001t0013g0027 a0001c0001t0013g0028 |
2 | HG01109.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.756+1627C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77568757 | |||||||
chr14:77568807 | C | CA | 8 | a0001c0001t0005g0175 a0001c0001t0005g0179 a0001c0001t0005g0180 others(5): Show |
8 | HG01167.hp2 HG01358.hp2 HG02602.hp1 others(5): Show |
intron_variant | MODIFIER | c.756+1576dupT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77568807 | |||||||
chr14:77568824 | A | AAG | 92 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(89): Show |
93 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(90): Show |
intron_variant | MODIFIER | c.756+1558_756+1559d others(4): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77568824 | |||||||
chr14:77568824 | A | AG | 6 | a0001c0001t0001g0120 a0001c0001t0001g0139 a0001c0001t0001g0164 others(3): Show |
6 | HG00408.hp1 HG01069.hp2 HG01123.hp1 others(3): Show |
intron_variant | MODIFIER | c.756+1559_756+1560i others(3): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77568824 | |||||||
chr14:77568824 | A | G | 36 | a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0008g0118 others(33): Show |
36 | HG00741.hp1 HG01081.hp2 HG01123.hp2 others(33): Show |
intron_variant | MODIFIER | c.756+1560T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77568824 | |||||||
chr14:77568890 | T | C | 134 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(131): Show |
135 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(132): Show |
intron_variant | MODIFIER | c.756+1494A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77568890 | |||||||
chr14:77568910 | C | A | 134 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(131): Show |
135 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(132): Show |
intron_variant | MODIFIER | c.756+1474G>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77568910 | |||||||
chr14:77568910 | C | T | 2 | a0001c0001t0005g0175 a0001c0001t0005g0180 |
2 | HG01167.hp2 HG02630.hp2 |
intron_variant | MODIFIER | c.756+1474G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77568910 | |||||||
chr14:77568955 | AT | A | 3 | a0001c0001t0001g0059 a0001c0002t0003g0032 a0001c0002t0003g0061 |
3 | HG01358.hp1 HG01975.hp1 HG01993.hp2 |
intron_variant | MODIFIER | c.756+1428delA | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77568955 | |||||||
chr14:77569049 | T | A | 134 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(131): Show |
135 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(132): Show |
intron_variant | MODIFIER | c.756+1335A>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77569049 | |||||||
chr14:77569118 | T | TTCC | 134 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(131): Show |
135 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(132): Show |
intron_variant | MODIFIER | c.756+1265_756+1266i others(5): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77569118 | |||||||
chr14:77569133 | A | C | 1 | a0001c0001t0001g0059 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.756+1251T>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77569133 | |||||||
chr14:77569222 | A | G | 1 | a0001c0003t0017g0063 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.756+1162T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77569222 | |||||||
chr14:77569276 | C | T | 141 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(138): Show |
142 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(139): Show |
intron_variant | MODIFIER | c.756+1108G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77569276 | |||||||
chr14:77569485 | T | C | 1 | a0001c0001t0005g0073 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.756+899A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77569485 | |||||||
chr14:77569589 | G | A | 95 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(92): Show |
96 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(93): Show |
intron_variant | MODIFIER | c.756+795C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77569589 | |||||||
chr14:77569683 | G | C | 1 | a0001c0001t0001g0129 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.756+701C>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77569683 | |||||||
chr14:77569709 | C | T | 7 | a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0013 others(4): Show |
7 | HG02451.hp2 HG02572.hp2 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.756+675G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77569709 | |||||||
chr14:77569729 | C | T | 2 | a0001c0001t0021g0003 a0001c0001t0043g0026 |
2 | HG01081.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.756+655G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77569729 | |||||||
chr14:77569793 | T | TATATA | 7 | a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0013 others(4): Show |
7 | HG02451.hp2 HG02572.hp2 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.756+586_756+590dup others(5): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77569793 | |||||||
chr14:77569819 | TTA | T | 141 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(138): Show |
142 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(139): Show |
intron_variant | MODIFIER | c.756+563_756+564del others(2): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77569819 | |||||||
chr14:77569822 | T | TATATATA others(27): Show |
6 | a0001c0001t0001g0217 a0001c0001t0003g0116 a0001c0001t0003g0117 others(3): Show |
6 | HG00733.hp1 HG01257.hp2 HG01258.hp2 others(3): Show |
intron_variant | MODIFIER | c.756+528_756+561dup others(34): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77569822 | |||||||
chr14:77569823 | A | T | 134 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(131): Show |
135 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(132): Show |
intron_variant | MODIFIER | c.756+561T>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77569823 | |||||||
chr14:77569840 | A | T | 134 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(131): Show |
135 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(132): Show |
intron_variant | MODIFIER | c.756+544T>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77569840 | |||||||
chr14:77569844 | T | TA | 134 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(131): Show |
135 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(132): Show |
intron_variant | MODIFIER | c.756+539_756+540ins others(1): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77569844 | |||||||
chr14:77569846 | A | AT | 134 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(131): Show |
135 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(132): Show |
intron_variant | MODIFIER | c.756+537dupA | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77569846 | |||||||
chr14:77569852 | A | AAAATATT others(131): Show |
2 | a0001c0001t0001g0079 a0001c0001t0001g0161 |
2 | HG01106.hp2 NA19000.hp1 |
intron_variant | MODIFIER | c.756+531_756+532ins others(138): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77569852 | |||||||
chr14:77569852 | A | AAAATATT others(131): Show |
1 | a0001c0002t0017g0214 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.756+531_756+532ins others(138): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77569852 | |||||||
chr14:77569852 | A | AAAATATT others(135): Show |
8 | a0001c0002t0007g0236 a0001c0002t0007g0238 a0001c0002t0007g0239 others(5): Show |
8 | HG02109.hp2 HG02486.hp2 HG02630.hp1 others(5): Show |
intron_variant | MODIFIER | c.756+531_756+532ins others(142): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77569852 | |||||||
chr14:77569852 | A | AAAATATT others(132): Show |
6 | a0001c0002t0005g0187 a0001c0002t0005g0188 a0001c0002t0010g0065 others(3): Show |
6 | HG01891.hp1 HG02572.hp1 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.756+531_756+532ins others(139): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77569852 | |||||||
chr14:77569852 | A | AAAATATT others(188): Show |
3 | a0001c0001t0021g0003 a0001c0001t0039g0100 a0001c0001t0043g0026 |
3 | HG01081.hp2 HG03098.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.756+531_756+532ins others(195): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77569852 | |||||||
chr14:77569852 | A | AAAATATT others(131): Show |
91 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(88): Show |
92 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(89): Show |
intron_variant | MODIFIER | c.756+531_756+532ins others(138): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77569852 | |||||||
chr14:77569852 | A | AAAATATT others(177): Show |
1 | a0001c0001t0009g0085 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.756+531_756+532ins others(184): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77569852 | |||||||
chr14:77569852 | A | AAAATATT others(133): Show |
19 | a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0120 others(16): Show |
19 | HG00408.hp1 HG00741.hp1 HG01123.hp2 others(16): Show |
intron_variant | MODIFIER | c.756+531_756+532ins others(140): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77569852 | |||||||
chr14:77569852 | A | AAAATATT others(130): Show |
2 | a0001c0002t0005g0075 a0001c0002t0005g0076 |
2 | HG03486.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.756+531_756+532ins others(137): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77569852 | |||||||
chr14:77569852 | A | AAAATATT others(129): Show |
1 | a0001c0001t0034g0090 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.756+531_756+532ins others(136): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77569852 | |||||||
chr14:77569854 | G | A | 134 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(131): Show |
135 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(132): Show |
intron_variant | MODIFIER | c.756+530C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77569854 | |||||||
chr14:77569859 | T | A | 134 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(131): Show |
135 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(132): Show |
intron_variant | MODIFIER | c.756+525A>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77569859 | |||||||
chr14:77569902 | T | A | 1 | a0002c0007t0042g0128 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.756+482A>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77569902 | |||||||
chr14:77569917 | A | G | 141 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(138): Show |
142 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(139): Show |
intron_variant | MODIFIER | c.756+467T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77569917 | |||||||
chr14:77569957 | G | A | 1 | a0001c0001t0005g0175 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.756+427C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77569957 | |||||||
chr14:77570015 | C | T | 134 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(131): Show |
135 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(132): Show |
intron_variant | MODIFIER | c.756+369G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77570015 | |||||||
chr14:77570051 | G | A | 134 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(131): Show |
135 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(132): Show |
intron_variant | MODIFIER | c.756+333C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77570051 | |||||||
chr14:77570222 | C | CA | 53 | a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0023 others(50): Show |
53 | HG00621.hp1 HG00642.hp1 HG00733.hp1 others(50): Show |
intron_variant | MODIFIER | c.756+161dupT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77570222 | |||||||
chr14:77570222 | CA | C | 136 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0030 others(133): Show |
137 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(134): Show |
intron_variant | MODIFIER | c.756+161delT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77570222 | |||||||
chr14:77570222 | CAA | C | 13 | a0001c0001t0001g0009 a0001c0001t0001g0206 a0001c0001t0001g0207 others(10): Show |
13 | HG00323.hp1 HG00735.hp1 HG00738.hp2 others(10): Show |
intron_variant | MODIFIER | c.756+160_756+161del others(2): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77570222 | |||||||
chr14:77570311 | C | T | 3 | a0001c0001t0021g0003 a0001c0001t0039g0100 a0001c0001t0043g0026 |
3 | HG01081.hp2 HG03098.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.756+73G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77570311 | |||||||
chr14:77570315 | C | G | 19 | a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0120 others(16): Show |
19 | HG00408.hp1 HG00741.hp1 HG01123.hp2 others(16): Show |
intron_variant | MODIFIER | c.756+69G>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77570315 | |||||||
chr14:77570323 | G | A | 1 | a0001c0003t0017g0063 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.756+61C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | 77570323 | |||||||
chr14:77570556 | AG | A | 112 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(109): Show |
113 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(110): Show |
intron_variant | MODIFIER | c.632-49delC | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77570556 | |||||||
chr14:77570592 | A | G | 134 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(131): Show |
135 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(132): Show |
intron_variant | MODIFIER | c.632-84T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77570592 | |||||||
chr14:77570623 | T | G | 1 | a0001c0001t0006g0053 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.632-115A>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77570623 | |||||||
chr14:77570697 | A | G | 1 | a0001c0001t0001g0129 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.632-189T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77570697 | |||||||
chr14:77570819 | G | C | 19 | a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0120 others(16): Show |
19 | HG00408.hp1 HG00741.hp1 HG01123.hp2 others(16): Show |
intron_variant | MODIFIER | c.632-311C>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77570819 | |||||||
chr14:77570842 | G | A | 4 | a0001c0001t0004g0005 a0001c0001t0004g0006 a0001c0001t0004g0007 others(1): Show |
4 | HG01069.hp1 HG01071.hp2 HG01256.hp2 others(1): Show |
intron_variant | MODIFIER | c.632-334C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77570842 | |||||||
chr14:77570856 | T | C | 20 | a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0120 others(17): Show |
20 | HG00408.hp1 HG00741.hp1 HG01123.hp2 others(17): Show |
intron_variant | MODIFIER | c.632-348A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77570856 | |||||||
chr14:77570899 | CG | C | 131 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(128): Show |
132 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(129): Show |
intron_variant | MODIFIER | c.632-392delC | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77570899 | |||||||
chr14:77570908 | G | A | 2 | a0001c0006t0018g0074 a0001c0006t0022g0004 |
2 | HG02922.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.632-400C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77570908 | |||||||
chr14:77570988 | G | A | 19 | a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0120 others(16): Show |
19 | HG00408.hp1 HG00741.hp1 HG01123.hp2 others(16): Show |
intron_variant | MODIFIER | c.632-480C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77570988 | |||||||
chr14:77571038 | C | T | 52 | a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0023 others(49): Show |
52 | HG00621.hp1 HG00642.hp1 HG00733.hp1 others(49): Show |
intron_variant | MODIFIER | c.632-530G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77571038 | |||||||
chr14:77571098 | T | C | 1 | a0001c0001t0001g0060 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.632-590A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77571098 | |||||||
chr14:77571127 | A | T | 1 | a0001c0009t0004g0062 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.632-619T>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77571127 | |||||||
chr14:77571144 | G | A | 1 | a0001c0002t0006g0114 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.632-636C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77571144 | |||||||
chr14:77571204 | A | G | 141 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(138): Show |
142 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(139): Show |
intron_variant | MODIFIER | c.632-696T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77571204 | |||||||
chr14:77571277 | A | G | 140 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(137): Show |
141 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(138): Show |
intron_variant | MODIFIER | c.632-769T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77571277 | |||||||
chr14:77571453 | G | A | 2 | a0001c0001t0005g0175 a0001c0001t0005g0180 |
2 | HG01167.hp2 HG02630.hp2 |
intron_variant | MODIFIER | c.632-945C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77571453 | |||||||
chr14:77571496 | G | A | 1 | a0001c0001t0005g0179 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.632-988C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77571496 | |||||||
chr14:77571508 | C | CA | 63 | a0001c0001t0001g0010 a0001c0001t0001g0023 a0001c0001t0001g0024 others(60): Show |
63 | HG00621.hp1 HG00642.hp1 HG00733.hp1 others(60): Show |
intron_variant | MODIFIER | c.632-1001dupT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77571508 | |||||||
chr14:77571508 | C | CAA | 7 | a0001c0001t0001g0022 a0001c0001t0001g0046 a0001c0001t0001g0129 others(4): Show |
7 | HG01928.hp2 HG02109.hp1 HG02145.hp2 others(4): Show |
intron_variant | MODIFIER | c.632-1002_632-1001d others(4): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77571508 | |||||||
chr14:77571508 | CAA | C | 10 | a0001c0001t0001g0170 a0001c0001t0009g0174 a0001c0001t0035g0122 others(7): Show |
10 | HG02071.hp1 HG02451.hp2 HG02572.hp2 others(7): Show |
intron_variant | MODIFIER | c.632-1002_632-1001d others(4): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77571508 | |||||||
chr14:77571508 | CAAA | C | 131 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(128): Show |
132 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(129): Show |
intron_variant | MODIFIER | c.632-1003_632-1001d others(5): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77571508 | |||||||
chr14:77571528 | G | T | 141 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(138): Show |
142 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(139): Show |
intron_variant | MODIFIER | c.632-1020C>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77571528 | |||||||
chr14:77571534 | C | T | 13 | a0001c0001t0003g0221 a0001c0001t0004g0005 a0001c0001t0004g0006 others(10): Show |
13 | HG00323.hp2 HG01069.hp1 HG01071.hp2 others(10): Show |
intron_variant | MODIFIER | c.632-1026G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77571534 | |||||||
chr14:77571538 | C | T | 13 | a0001c0001t0003g0221 a0001c0001t0004g0005 a0001c0001t0004g0006 others(10): Show |
13 | HG00323.hp2 HG01069.hp1 HG01071.hp2 others(10): Show |
intron_variant | MODIFIER | c.632-1030G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77571538 | |||||||
chr14:77571566 | C | T | 141 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(138): Show |
142 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(139): Show |
intron_variant | MODIFIER | c.632-1058G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77571566 | |||||||
chr14:77571721 | T | G | 12 | a0001c0001t0003g0221 a0001c0001t0004g0005 a0001c0001t0004g0006 others(9): Show |
12 | HG00323.hp2 HG01069.hp1 HG01071.hp2 others(9): Show |
intron_variant | MODIFIER | c.632-1213A>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77571721 | |||||||
chr14:77571782 | A | G | 6 | a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0013 others(3): Show |
6 | HG02451.hp2 HG02572.hp2 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.632-1274T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77571782 | |||||||
chr14:77571830 | G | A | 3 | a0001c0002t0002g0025 a0001c0002t0002g0201 a0001c0002t0002g0213 |
3 | HG01243.hp1 HG02818.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.632-1322C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77571830 | |||||||
chr14:77571851 | C | T | 3 | a0001c0001t0021g0003 a0001c0001t0039g0100 a0001c0001t0043g0026 |
3 | HG01081.hp2 HG03098.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.632-1343G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77571851 | |||||||
chr14:77571852 | G | A | 2 | a0001c0001t0001g0042 a0001c0001t0001g0051 |
2 | HG02148.hp2 HG02257.hp1 |
intron_variant | MODIFIER | c.632-1344C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77571852 | |||||||
chr14:77571905 | T | C | 141 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(138): Show |
142 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(139): Show |
intron_variant | MODIFIER | c.632-1397A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77571905 | |||||||
chr14:77571941 | C | T | 95 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(92): Show |
96 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(93): Show |
intron_variant | MODIFIER | c.632-1433G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77571941 | |||||||
chr14:77571945 | C | T | 19 | a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0120 others(16): Show |
19 | HG00408.hp1 HG00741.hp1 HG01123.hp2 others(16): Show |
intron_variant | MODIFIER | c.632-1437G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77571945 | |||||||
chr14:77572033 | C | A | 131 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(128): Show |
132 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(129): Show |
intron_variant | MODIFIER | c.632-1525G>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77572033 | |||||||
chr14:77572067 | C | T | 1 | a0001c0001t0001g0082 | 1 | NA18968.hp1 | intron_variant | MODIFIER | c.632-1559G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77572067 | |||||||
chr14:77572078 | G | A | 15 | a0001c0001t0001g0059 a0001c0001t0005g0127 a0001c0001t0005g0178 others(12): Show |
15 | HG01358.hp1 HG01496.hp2 HG01884.hp2 others(12): Show |
intron_variant | MODIFIER | c.632-1570C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77572078 | |||||||
chr14:77572088 | G | A | 6 | a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0013 others(3): Show |
6 | HG02451.hp2 HG02572.hp2 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.632-1580C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77572088 | |||||||
chr14:77572114 | A | G | 1 | a0001c0002t0006g0112 | 1 | HG01993.hp1 | intron_variant | MODIFIER | c.632-1606T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77572114 | |||||||
chr14:77572119 | G | A | 143 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(140): Show |
144 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(141): Show |
intron_variant | MODIFIER | c.632-1611C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77572119 | |||||||
chr14:77572168 | C | T | 3 | a0001c0001t0021g0003 a0001c0001t0039g0100 a0001c0001t0043g0026 |
3 | HG01081.hp2 HG03098.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.632-1660G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77572168 | |||||||
chr14:77572215 | A | T | 45 | a0001c0001t0001g0001 a0001c0001t0001g0036 a0001c0001t0001g0037 others(42): Show |
46 | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(43): Show |
intron_variant | MODIFIER | c.632-1707T>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77572215 | |||||||
chr14:77572242 | TA | T | 19 | a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0120 others(16): Show |
19 | HG00408.hp1 HG00741.hp1 HG01123.hp2 others(16): Show |
intron_variant | MODIFIER | c.632-1735delT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77572242 | |||||||
chr14:77572280 | C | T | 7 | a0001c0001t0001g0009 a0001c0001t0001g0206 a0001c0001t0001g0207 others(4): Show |
7 | HG00323.hp1 HG00735.hp1 HG00738.hp2 others(4): Show |
intron_variant | MODIFIER | c.632-1772G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77572280 | |||||||
chr14:77572299 | C | G | 145 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(142): Show |
146 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(143): Show |
intron_variant | MODIFIER | c.632-1791G>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77572299 | |||||||
chr14:77572402 | G | A | 1 | a0001c0001t0001g0050 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.632-1894C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77572402 | |||||||
chr14:77572432 | T | C | 9 | a0001c0001t0005g0127 a0001c0001t0005g0178 a0001c0001t0005g0179 others(6): Show |
9 | HG01496.hp2 HG01884.hp2 HG02165.hp1 others(6): Show |
intron_variant | MODIFIER | c.632-1924A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77572432 | |||||||
chr14:77572561 | T | C | 1 | a0001c0001t0026g0159 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.632-2053A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77572561 | |||||||
chr14:77572634 | A | G | 1 | a0001c0001t0002g0071 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.632-2126T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77572634 | |||||||
chr14:77572743 | T | C | 1 | a0001c0001t0001g0087 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.632-2235A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77572743 | |||||||
chr14:77572770 | G | C | 1 | a0001c0001t0001g0087 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.632-2262C>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77572770 | |||||||
chr14:77572943 | C | T | 29 | a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0120 others(26): Show |
29 | HG00408.hp1 HG00741.hp1 HG01123.hp2 others(26): Show |
intron_variant | MODIFIER | c.632-2435G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77572943 | |||||||
chr14:77572975 | G | C | 5 | a0001c0002t0017g0214 a0001c0003t0001g0011 a0001c0003t0001g0012 others(2): Show |
5 | HG02280.hp1 HG02451.hp2 HG02572.hp2 others(2): Show |
intron_variant | MODIFIER | c.632-2467C>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77572975 | |||||||
chr14:77573093 | G | T | 6 | a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0013 others(3): Show |
6 | HG02451.hp2 HG02572.hp2 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.632-2585C>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77573093 | |||||||
chr14:77573112 | A | T | 1 | a0001c0001t0014g0131 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.632-2604T>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77573112 | |||||||
chr14:77573198 | G | T | 64 | a0001c0001t0001g0001 a0001c0001t0001g0036 a0001c0001t0001g0037 others(61): Show |
65 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(62): Show |
intron_variant | MODIFIER | c.632-2690C>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77573198 | |||||||
chr14:77573214 | A | G | 1 | a0001c0001t0001g0115 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.632-2706T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77573214 | |||||||
chr14:77573237 | A | T | 1 | a0001c0001t0001g0052 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.632-2729T>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77573237 | |||||||
chr14:77573287 | T | C | 1 | a0001c0001t0035g0122 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.632-2779A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77573287 | |||||||
chr14:77573352 | T | C | 1 | a0001c0004t0004g0190 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.632-2844A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77573352 | |||||||
chr14:77573439 | A | G | 89 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0022 others(86): Show |
90 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(87): Show |
intron_variant | MODIFIER | c.632-2931T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77573439 | |||||||
chr14:77573483 | T | A | 46 | a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0022 others(43): Show |
46 | HG00323.hp2 HG00621.hp1 HG00642.hp1 others(43): Show |
intron_variant | MODIFIER | c.632-2975A>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77573483 | |||||||
chr14:77573490 | A | G | 200 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(197): Show |
201 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(198): Show |
intron_variant | MODIFIER | c.632-2982T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77573490 | |||||||
chr14:77573492 | A | C | 15 | a0001c0001t0001g0229 a0001c0001t0003g0184 a0001c0001t0003g0185 others(12): Show |
15 | HG01069.hp1 HG01071.hp2 HG01168.hp2 others(12): Show |
intron_variant | MODIFIER | c.632-2984T>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77573492 | |||||||
chr14:77573500 | A | AAAAT | 3 | a0001c0001t0008g0124 a0001c0001t0008g0125 a0001c0001t0008g0126 |
3 | NA18946.hp2 NA18953.hp2 NA19081.hp2 |
intron_variant | MODIFIER | c.632-2996_632-2993d others(6): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77573500 | |||||||
chr14:77573500 | AAAAT | A | 27 | a0001c0001t0001g0009 a0001c0001t0001g0129 a0001c0001t0001g0176 others(24): Show |
27 | HG00323.hp1 HG00735.hp1 HG00738.hp2 others(24): Show |
intron_variant | MODIFIER | c.632-2996_632-2993d others(6): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77573500 | |||||||
chr14:77573500 | AAAATAAA others(1): Show |
A | 180 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0018 others(177): Show |
181 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(178): Show |
intron_variant | MODIFIER | c.632-3000_632-2993d others(10): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77573500 | |||||||
chr14:77573515 | A | T | 1 | a0001c0001t0014g0131 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.632-3007T>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77573515 | |||||||
chr14:77573616 | C | T | 13 | a0001c0001t0001g0229 a0001c0001t0003g0189 a0001c0001t0003g0221 others(10): Show |
13 | HG01069.hp1 HG01071.hp2 HG01168.hp2 others(10): Show |
intron_variant | MODIFIER | c.632-3108G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77573616 | |||||||
chr14:77573628 | C | A | 9 | a0001c0001t0001g0009 a0001c0001t0001g0206 a0001c0001t0001g0207 others(6): Show |
9 | HG00323.hp1 HG00735.hp1 HG00738.hp2 others(6): Show |
intron_variant | MODIFIER | c.632-3120G>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77573628 | |||||||
chr14:77573752 | C | A | 108 | a0001c0001t0001g0001 a0001c0001t0001g0036 a0001c0001t0001g0037 others(105): Show |
109 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(106): Show |
intron_variant | MODIFIER | c.631+3015G>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77573752 | |||||||
chr14:77573770 | G | A | 3 | a0001c0004t0004g0141 a0001c0004t0004g0142 a0001c0004t0004g0183 |
3 | HG02622.hp2 HG03579.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.631+2997C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77573770 | |||||||
chr14:77573773 | G | A | 2 | a0001c0001t0003g0184 a0001c0001t0003g0185 |
2 | HG03471.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.631+2994C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77573773 | |||||||
chr14:77573809 | T | A | 1 | a0001c0002t0010g0065 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.631+2958A>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77573809 | |||||||
chr14:77573880 | C | T | 1 | a0001c0001t0006g0053 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.631+2887G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77573880 | |||||||
chr14:77573938 | C | T | 1 | a0002c0007t0042g0128 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.631+2829G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77573938 | |||||||
chr14:77573984 | T | C | 227 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(224): Show |
228 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(225): Show |
intron_variant | MODIFIER | c.631+2783A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77573984 | |||||||
chr14:77574050 | A | G | 218 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(215): Show |
219 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(216): Show |
intron_variant | MODIFIER | c.631+2717T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77574050 | |||||||
chr14:77574091 | A | G | 71 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0031 others(68): Show |
72 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(69): Show |
intron_variant | MODIFIER | c.631+2676T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77574091 | |||||||
chr14:77574414 | G | A | 226 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(223): Show |
227 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(224): Show |
intron_variant | MODIFIER | c.631+2353C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77574414 | |||||||
chr14:77574472 | C | T | 226 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(223): Show |
227 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(224): Show |
intron_variant | MODIFIER | c.631+2295G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77574472 | |||||||
chr14:77574555 | C | A | 3 | a0001c0001t0003g0221 a0001c0001t0005g0223 a0001c0001t0040g0222 |
3 | HG01168.hp2 HG02735.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.631+2212G>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77574555 | |||||||
chr14:77574831 | G | T | 12 | a0001c0001t0001g0009 a0001c0001t0001g0129 a0001c0001t0001g0206 others(9): Show |
12 | HG00323.hp1 HG00735.hp1 HG00738.hp2 others(9): Show |
intron_variant | MODIFIER | c.631+1936C>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77574831 | |||||||
chr14:77574838 | TA | T | 12 | a0001c0001t0001g0009 a0001c0001t0001g0129 a0001c0001t0001g0206 others(9): Show |
12 | HG00323.hp1 HG00735.hp1 HG00738.hp2 others(9): Show |
intron_variant | MODIFIER | c.631+1928delT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77574838 | |||||||
chr14:77575016 | T | A | 4 | a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0013 others(1): Show |
4 | HG02451.hp2 HG02572.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.631+1751A>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77575016 | |||||||
chr14:77575067 | A | T | 3 | a0001c0001t0021g0003 a0001c0006t0018g0074 a0001c0006t0022g0004 |
3 | HG01081.hp2 HG02922.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.631+1700T>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77575067 | |||||||
chr14:77575131 | A | G | 1 | a0001c0001t0014g0131 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.631+1636T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77575131 | |||||||
chr14:77575179 | C | T | 58 | a0001c0001t0001g0001 a0001c0001t0001g0031 a0001c0001t0001g0036 others(55): Show |
59 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(56): Show |
intron_variant | MODIFIER | c.631+1588G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77575179 | |||||||
chr14:77575286 | C | A | 1 | a0001c0002t0002g0224 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.631+1481G>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77575286 | |||||||
chr14:77575446 | G | A | 1 | a0002c0007t0042g0128 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.631+1321C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77575446 | |||||||
chr14:77575477 | A | G | 1 | a0001c0003t0023g0132 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.631+1290T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77575477 | |||||||
chr14:77575528 | T | A | 4 | a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0013 others(1): Show |
4 | HG02451.hp2 HG02572.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.631+1239A>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77575528 | |||||||
chr14:77575594 | C | T | 56 | a0001c0001t0001g0001 a0001c0001t0001g0031 a0001c0001t0001g0036 others(53): Show |
57 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(54): Show |
intron_variant | MODIFIER | c.631+1173G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77575594 | |||||||
chr14:77575612 | GCCTCAAA others(4): Show |
G | 1 | a0001c0001t0001g0081 | 1 | NA18986.hp2 | intron_variant | MODIFIER | c.631+1144_631+1154d others(13): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77575612 | |||||||
chr14:77575680 | C | A | 1 | a0001c0001t0001g0046 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.631+1087G>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77575680 | |||||||
chr14:77575822 | C | T | 1 | a0001c0001t0015g0149 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.631+945G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77575822 | |||||||
chr14:77575823 | G | A | 8 | a0001c0002t0007g0238 a0001c0002t0007g0239 a0001c0002t0007g0240 others(5): Show |
8 | HG02109.hp2 HG02486.hp2 HG02630.hp1 others(5): Show |
intron_variant | MODIFIER | c.631+944C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77575823 | |||||||
chr14:77575843 | ATCT | A | 3 | a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0016g0068 |
3 | HG00280.hp1 HG01346.hp1 HG01516.hp1 |
intron_variant | MODIFIER | c.631+921_631+923del others(3): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77575843 | |||||||
chr14:77575964 | G | A | 22 | a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0120 others(19): Show |
22 | HG00323.hp2 HG00408.hp1 HG00741.hp1 others(19): Show |
intron_variant | MODIFIER | c.631+803C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77575964 | |||||||
chr14:77575984 | G | A | 1 | a0001c0003t0023g0132 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.631+783C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77575984 | |||||||
chr14:77576056 | G | A | 8 | a0001c0002t0007g0238 a0001c0002t0007g0239 a0001c0002t0007g0240 others(5): Show |
8 | HG02109.hp2 HG02486.hp2 HG02630.hp1 others(5): Show |
intron_variant | MODIFIER | c.631+711C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77576056 | |||||||
chr14:77576219 | C | T | 1 | a0001c0001t0008g0172 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.631+548G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77576219 | |||||||
chr14:77576370 | C | T | 20 | a0001c0001t0001g0229 a0001c0001t0002g0070 a0001c0001t0003g0184 others(17): Show |
20 | HG01069.hp1 HG01071.hp2 HG01168.hp2 others(17): Show |
intron_variant | MODIFIER | c.631+397G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77576370 | |||||||
chr14:77576421 | A | C | 8 | a0001c0002t0007g0238 a0001c0002t0007g0239 a0001c0002t0007g0240 others(5): Show |
8 | HG02109.hp2 HG02486.hp2 HG02630.hp1 others(5): Show |
intron_variant | MODIFIER | c.631+346T>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77576421 | |||||||
chr14:77576636 | GC | G | 18 | a0001c0001t0001g0229 a0001c0001t0002g0070 a0001c0001t0003g0189 others(15): Show |
18 | HG01069.hp1 HG01071.hp2 HG01168.hp2 others(15): Show |
intron_variant | MODIFIER | c.631+130delG | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | 77576636 | |||||||
chr14:77576973 | A | G | 1 | a0002c0007t0042g0128 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.483-58T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | 77576973 | |||||||
chr14:77577169 | T | TAAGAATA others(317): Show |
1 | a0001c0001t0008g0125 | 1 | NA18953.hp2 | intron_variant | MODIFIER | c.483-255_483-254ins others(324): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | 77577169 | |||||||
chr14:77577169 | T | TAAGAATA others(318): Show |
16 | a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0120 others(13): Show |
16 | HG00323.hp2 HG00408.hp1 HG01257.hp1 others(13): Show |
intron_variant | MODIFIER | c.483-255_483-254ins others(325): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | 77577169 | |||||||
chr14:77577169 | T | TAAGAATA others(319): Show |
5 | a0001c0001t0008g0118 a0001c0002t0006g0104 a0001c0002t0006g0108 others(2): Show |
5 | HG00741.hp1 HG01123.hp2 HG01255.hp2 others(2): Show |
intron_variant | MODIFIER | c.483-255_483-254ins others(326): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | 77577169 | |||||||
chr14:77577578 | G | T | 1 | a0001c0001t0001g0145 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.483-663C>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | 77577578 | |||||||
chr14:77577586 | G | A | 227 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(224): Show |
228 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(225): Show |
intron_variant | MODIFIER | c.483-671C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | 77577586 | |||||||
chr14:77577844 | A | G | 9 | a0001c0002t0007g0236 a0001c0002t0007g0238 a0001c0002t0007g0239 others(6): Show |
9 | HG02109.hp2 HG02486.hp2 HG02630.hp1 others(6): Show |
intron_variant | MODIFIER | c.483-929T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | 77577844 | |||||||
chr14:77577919 | CA | C | 10 | a0001c0001t0002g0070 a0001c0001t0039g0100 a0001c0002t0002g0210 others(7): Show |
10 | HG01891.hp1 HG01891.hp2 HG02109.hp1 others(7): Show |
intron_variant | MODIFIER | c.483-1005delT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | 77577919 | |||||||
chr14:77577922 | A | C | 1 | a0002c0007t0042g0128 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.483-1007T>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | 77577922 | |||||||
chr14:77578132 | G | A | 35 | a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0120 others(32): Show |
35 | HG00323.hp2 HG00408.hp1 HG00741.hp1 others(32): Show |
intron_variant | MODIFIER | c.482+823C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | 77578132 | |||||||
chr14:77578205 | A | C | 1 | a0001c0002t0002g0194 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.482+750T>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | 77578205 | |||||||
chr14:77578334 | CT | C | 7 | a0001c0001t0001g0024 a0001c0001t0001g0208 a0001c0001t0003g0189 others(4): Show |
7 | HG00323.hp1 HG01069.hp1 HG01516.hp1 others(4): Show |
intron_variant | MODIFIER | c.482+620delA | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | 77578334 | |||||||
chr14:77578349 | T | TTA | 9 | a0001c0002t0007g0236 a0001c0002t0007g0238 a0001c0002t0007g0239 others(6): Show |
9 | HG02109.hp2 HG02486.hp2 HG02630.hp1 others(6): Show |
intron_variant | MODIFIER | c.482+605_482+606ins others(2): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | 77578349 | |||||||
chr14:77578350 | A | T | 1 | a0001c0001t0048g0234 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.482+605T>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | 77578350 | |||||||
chr14:77578418 | T | C | 3 | a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0004t0004g0190 |
3 | HG02717.hp2 HG03471.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.482+537A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | 77578418 | |||||||
chr14:77578449 | A | G | 236 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(233): Show |
237 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(234): Show |
intron_variant | MODIFIER | c.482+506T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | 77578449 | |||||||
chr14:77578604 | C | T | 13 | a0001c0001t0001g0229 a0001c0001t0003g0189 a0001c0001t0003g0226 others(10): Show |
13 | HG01069.hp1 HG01071.hp2 HG01256.hp2 others(10): Show |
intron_variant | MODIFIER | c.482+351G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | 77578604 | |||||||
chr14:77578687 | T | A | 1 | a0001c0001t0003g0226 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.482+268A>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | 77578687 | |||||||
chr14:77578707 | G | A | 22 | a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0120 others(19): Show |
22 | HG00323.hp2 HG00408.hp1 HG00741.hp1 others(19): Show |
intron_variant | MODIFIER | c.482+248C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | 77578707 | |||||||
chr14:77578725 | A | C | 1 | a0001c0002t0001g0103 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.482+230T>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | 77578725 | |||||||
chr14:77578732 | A | T | 70 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0031 others(67): Show |
71 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(68): Show |
intron_variant | MODIFIER | c.482+223T>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | 77578732 | |||||||
chr14:77578794 | T | TAAAAAGC others(2739): Show |
1 | a0001c0002t0006g0108 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.482+160_482+161ins others(2746): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | 77578794 | |||||||
chr14:77578794 | T | TAAAAAGC others(2741): Show |
1 | a0001c0002t0006g0153 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.482+160_482+161ins others(2748): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | 77578794 | |||||||
chr14:77578794 | T | TAAAAAGC others(2737): Show |
1 | a0001c0002t0006g0112 | 1 | HG01993.hp1 | intron_variant | MODIFIER | c.482+160_482+161ins others(2744): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | 77578794 | |||||||
chr14:77578794 | T | TAAAAAGC others(2738): Show |
1 | a0001c0001t0008g0124 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.482+160_482+161ins others(2745): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | 77578794 | |||||||
chr14:77578794 | T | TAAAAAGC others(2736): Show |
1 | a0001c0001t0001g0115 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.482+160_482+161ins others(2743): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | 77578794 | |||||||
chr14:77578794 | T | TAAAAAGC others(2737): Show |
2 | a0001c0001t0001g0120 a0001c0002t0006g0109 |
2 | HG00408.hp1 HG01123.hp2 |
intron_variant | MODIFIER | c.482+160_482+161ins others(2744): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | 77578794 | |||||||
chr14:77578794 | T | TAAAAAGC others(2735): Show |
1 | a0001c0001t0008g0125 | 1 | NA18953.hp2 | intron_variant | MODIFIER | c.482+160_482+161ins others(2742): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | 77578794 | |||||||
chr14:77578794 | T | TAAAAAGC others(2738): Show |
2 | a0001c0001t0008g0126 a0001c0002t0006g0123 |
2 | HG04204.hp2 NA19081.hp2 |
intron_variant | MODIFIER | c.482+160_482+161ins others(2745): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | 77578794 | |||||||
chr14:77578794 | T | TAAAAAGC others(2736): Show |
1 | a0001c0002t0006g0113 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.482+160_482+161ins others(2743): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | 77578794 | |||||||
chr14:77578794 | T | TAAAAAGC others(2737): Show |
4 | a0001c0001t0008g0118 a0001c0001t0008g0172 a0001c0002t0006g0104 others(1): Show |
4 | HG01255.hp2 NA18954.hp1 NA20300.hp2 others(1): Show |
intron_variant | MODIFIER | c.482+160_482+161ins others(2744): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | 77578794 | |||||||
chr14:77578794 | T | TAAAAAGC others(2735): Show |
2 | a0001c0001t0003g0116 a0001c0001t0003g0117 |
2 | HG01257.hp2 HG01258.hp2 |
intron_variant | MODIFIER | c.482+160_482+161ins others(2742): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | 77578794 | |||||||
chr14:77578794 | T | TAAAAAGC others(2736): Show |
1 | a0001c0001t0001g0119 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.482+160_482+161ins others(2743): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | 77578794 | |||||||
chr14:77578794 | T | TAAAAAGC others(2738): Show |
1 | a0001c0002t0001g0103 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.482+160_482+161ins others(2745): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | 77578794 | |||||||
chr14:77578794 | T | TAAAAAGC others(2739): Show |
1 | a0001c0001t0035g0122 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.482+160_482+161ins others(2746): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | 77578794 | |||||||
chr14:77578794 | T | TAAAAAGC others(2737): Show |
1 | a0001c0002t0006g0111 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.482+160_482+161ins others(2744): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | 77578794 | |||||||
chr14:77578794 | T | TAAAAAGC others(2761): Show |
1 | a0001c0001t0004g0110 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.482+160_482+161ins others(2768): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | 77578794 | |||||||
chr14:77578794 | T | TAAAAAGC others(2652): Show |
2 | a0001c0002t0005g0188 a0001c0002t0020g0002 |
2 | HG02615.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.482+160_482+161ins others(2659): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | 77578794 | |||||||
chr14:77578794 | T | TAAAAAGC others(2652): Show |
1 | a0001c0002t0005g0187 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.482+160_482+161ins others(2659): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | 77578794 | |||||||
chr14:77578794 | T | TAAAAAGC others(2651): Show |
1 | a0001c0002t0010g0066 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.482+160_482+161ins others(2658): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | 77578794 | |||||||
chr14:77578794 | T | TAAAAAGC others(2653): Show |
1 | a0001c0002t0010g0065 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.482+160_482+161ins others(2660): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | 77578794 | |||||||
chr14:77578794 | T | TAAAAAGC others(2646): Show |
3 | a0001c0001t0002g0070 a0001c0002t0005g0075 a0001c0002t0005g0076 |
3 | HG02109.hp1 HG03486.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.482+160_482+161ins others(2653): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | 77578794 | |||||||
chr14:77578794 | T | TAAAAAGC others(2645): Show |
1 | a0001c0001t0039g0100 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.482+160_482+161ins others(2652): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | 77578794 | |||||||
chr14:77578794 | T | TAAAAAGC others(2657): Show |
1 | a0001c0002t0002g0210 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.482+160_482+161ins others(2664): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | 77578794 | |||||||
chr14:77578842 | T | A | 1 | a0001c0001t0001g0166 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.482+113A>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | 77578842 | |||||||
chr14:77579139 | T | G | 10 | a0001c0001t0002g0070 a0001c0001t0039g0100 a0001c0002t0002g0210 others(7): Show |
10 | HG01891.hp1 HG01891.hp2 HG02109.hp1 others(7): Show |
intron_variant | MODIFIER | c.328-30A>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77579139 | |||||||
chr14:77579153 | T | A | 1 | a0001c0001t0008g0125 | 1 | NA18953.hp2 | intron_variant | MODIFIER | c.328-44A>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77579153 | |||||||
chr14:77579163 | A | T | 10 | a0001c0002t0007g0236 a0001c0002t0007g0238 a0001c0002t0007g0239 others(7): Show |
10 | HG02109.hp2 HG02486.hp2 HG02630.hp1 others(7): Show |
intron_variant | MODIFIER | c.328-54T>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77579163 | |||||||
chr14:77579444 | A | C | 1 | a0001c0003t0023g0132 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.328-335T>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77579444 | |||||||
chr14:77579477 | G | A | 1 | a0001c0001t0001g0129 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.328-368C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77579477 | |||||||
chr14:77579574 | C | G | 3 | a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0004t0004g0190 |
3 | HG02717.hp2 HG03471.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.328-465G>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77579574 | |||||||
chr14:77579575 | T | A | 3 | a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0004t0004g0190 |
3 | HG02717.hp2 HG03471.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.328-466A>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77579575 | |||||||
chr14:77580180 | T | C | 92 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0031 others(89): Show |
93 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(90): Show |
intron_variant | MODIFIER | c.328-1071A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77580180 | |||||||
chr14:77580227 | C | A | 2 | a0001c0001t0001g0119 a0001c0001t0001g0120 |
2 | HG00408.hp1 NA18747.hp1 |
intron_variant | MODIFIER | c.328-1118G>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77580227 | |||||||
chr14:77580303 | C | T | 2 | a0001c0002t0010g0065 a0001c0002t0010g0066 |
2 | HG01891.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.328-1194G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77580303 | |||||||
chr14:77580432 | G | A | 2 | a0001c0001t0001g0129 a0001c0005t0037g0055 |
2 | HG02559.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.328-1323C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77580432 | |||||||
chr14:77580475 | A | C | 103 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0031 others(100): Show |
104 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(101): Show |
intron_variant | MODIFIER | c.328-1366T>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77580475 | |||||||
chr14:77580477 | C | CA | 91 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0031 others(88): Show |
92 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(89): Show |
intron_variant | MODIFIER | c.328-1369dupT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77580477 | |||||||
chr14:77580548 | A | T | 1 | a0001c0002t0002g0224 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.328-1439T>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77580548 | |||||||
chr14:77580554 | G | GA | 18 | a0001c0001t0001g0035 a0001c0001t0001g0052 a0001c0001t0001g0229 others(15): Show |
18 | HG01069.hp1 HG01071.hp2 HG01168.hp2 others(15): Show |
intron_variant | MODIFIER | c.328-1446dupT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77580554 | |||||||
chr14:77580554 | G | GAA | 42 | a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0022 others(39): Show |
42 | HG00621.hp1 HG00642.hp1 HG00733.hp1 others(39): Show |
intron_variant | MODIFIER | c.328-1447_328-1446d others(4): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77580554 | |||||||
chr14:77580554 | GA | G | 65 | a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0040 others(62): Show |
65 | HG00280.hp1 HG00323.hp2 HG00438.hp1 others(62): Show |
intron_variant | MODIFIER | c.328-1446delT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77580554 | |||||||
chr14:77580554 | GAA | G | 15 | a0001c0001t0001g0120 a0001c0001t0001g0169 a0001c0001t0002g0070 others(12): Show |
15 | HG00408.hp1 HG01891.hp1 HG01891.hp2 others(12): Show |
intron_variant | MODIFIER | c.328-1447_328-1446d others(4): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77580554 | |||||||
chr14:77580554 | GAAA | G | 72 | a0001c0001t0001g0001 a0001c0001t0001g0031 a0001c0001t0001g0036 others(69): Show |
73 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(70): Show |
intron_variant | MODIFIER | c.328-1448_328-1446d others(5): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77580554 | |||||||
chr14:77580554 | GAAAA | G | 8 | a0001c0001t0001g0009 a0001c0001t0001g0206 a0001c0001t0001g0207 others(5): Show |
8 | HG00323.hp1 HG00735.hp1 HG00738.hp2 others(5): Show |
intron_variant | MODIFIER | c.328-1449_328-1446d others(6): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77580554 | |||||||
chr14:77580710 | G | A | 1 | a0001c0001t0001g0077 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.328-1601C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77580710 | |||||||
chr14:77580984 | G | A | 1 | a0001c0003t0023g0132 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.328-1875C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77580984 | |||||||
chr14:77581007 | G | A | 13 | a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0002t0007g0236 others(10): Show |
13 | HG02109.hp2 HG02486.hp2 HG02630.hp1 others(10): Show |
intron_variant | MODIFIER | c.328-1898C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77581007 | |||||||
chr14:77581010 | G | C | 1 | a0001c0008t0033g0049 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.328-1901C>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77581010 | |||||||
chr14:77581059 | T | G | 1 | a0001c0001t0008g0125 | 1 | NA18953.hp2 | intron_variant | MODIFIER | c.328-1950A>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77581059 | |||||||
chr14:77581111 | T | C | 22 | a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0120 others(19): Show |
22 | HG00323.hp2 HG00408.hp1 HG00741.hp1 others(19): Show |
intron_variant | MODIFIER | c.328-2002A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77581111 | |||||||
chr14:77581202 | A | C | 1 | a0001c0005t0037g0055 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.328-2093T>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77581202 | |||||||
chr14:77581206 | T | C | 11 | a0001c0001t0004g0110 a0001c0002t0001g0103 a0001c0002t0006g0104 others(8): Show |
11 | HG00323.hp2 HG00741.hp1 HG01123.hp2 others(8): Show |
intron_variant | MODIFIER | c.328-2097A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77581206 | |||||||
chr14:77581244 | T | C | 1 | a0001c0002t0002g0224 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.328-2135A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77581244 | |||||||
chr14:77581307 | T | G | 1 | a0001c0001t0001g0086 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.328-2198A>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77581307 | |||||||
chr14:77581405 | C | CT | 5 | a0001c0001t0003g0226 a0001c0001t0012g0227 a0001c0002t0017g0214 others(2): Show |
5 | HG02280.hp1 HG02717.hp2 HG02738.hp1 others(2): Show |
intron_variant | MODIFIER | c.328-2297dupA | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77581405 | |||||||
chr14:77581405 | C | CTTT | 65 | a0001c0001t0001g0001 a0001c0001t0001g0031 a0001c0001t0001g0037 others(62): Show |
66 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(63): Show |
intron_variant | MODIFIER | c.328-2299_328-2297d others(5): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77581405 | |||||||
chr14:77581405 | C | CTTTT | 14 | a0001c0001t0001g0009 a0001c0001t0001g0036 a0001c0001t0001g0129 others(11): Show |
14 | HG00735.hp1 HG00735.hp2 HG01071.hp1 others(11): Show |
intron_variant | MODIFIER | c.328-2300_328-2297d others(6): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77581405 | |||||||
chr14:77581405 | C | CTTTTT | 17 | a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0120 others(14): Show |
17 | HG00323.hp2 HG00408.hp1 HG01255.hp2 others(14): Show |
intron_variant | MODIFIER | c.328-2301_328-2297d others(7): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77581405 | |||||||
chr14:77581405 | C | CTTTTTT | 6 | a0001c0001t0008g0126 a0001c0002t0001g0103 a0001c0002t0006g0108 others(3): Show |
6 | HG00741.hp1 HG01123.hp2 HG01934.hp2 others(3): Show |
intron_variant | MODIFIER | c.328-2302_328-2297d others(8): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77581405 | |||||||
chr14:77581405 | CT | C | 52 | a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0024 others(49): Show |
52 | HG00621.hp1 HG00642.hp1 HG00733.hp1 others(49): Show |
intron_variant | MODIFIER | c.328-2297delA | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77581405 | |||||||
chr14:77581407 | T | C | 1 | a0001c0010t0004g0230 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.328-2298A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77581407 | |||||||
chr14:77581480 | G | A | 103 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0031 others(100): Show |
104 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(101): Show |
intron_variant | MODIFIER | c.328-2371C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77581480 | |||||||
chr14:77581704 | G | A | 1 | a0001c0001t0001g0097 | 1 | NA19091.hp2 | intron_variant | MODIFIER | c.328-2595C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77581704 | |||||||
chr14:77581998 | G | A | 103 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0031 others(100): Show |
104 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(101): Show |
intron_variant | MODIFIER | c.328-2889C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77581998 | |||||||
chr14:77582050 | T | TA | 70 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0031 others(67): Show |
71 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(68): Show |
intron_variant | MODIFIER | c.328-2942dupT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77582050 | |||||||
chr14:77582061 | A | T | 8 | a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0002t0002g0210 others(5): Show |
8 | HG01891.hp1 HG01891.hp2 HG02572.hp1 others(5): Show |
intron_variant | MODIFIER | c.328-2952T>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77582061 | |||||||
chr14:77582062 | T | A | 21 | a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0120 others(18): Show |
21 | HG00323.hp2 HG00408.hp1 HG00741.hp1 others(18): Show |
intron_variant | MODIFIER | c.328-2953A>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77582062 | |||||||
chr14:77582121 | C | T | 50 | a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0040 others(47): Show |
50 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(47): Show |
intron_variant | MODIFIER | c.328-3012G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77582121 | |||||||
chr14:77582180 | G | C | 32 | a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0120 others(29): Show |
32 | HG00323.hp2 HG00408.hp1 HG00741.hp1 others(29): Show |
intron_variant | MODIFIER | c.328-3071C>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77582180 | |||||||
chr14:77582342 | T | C | 227 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(224): Show |
228 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(225): Show |
intron_variant | MODIFIER | c.328-3233A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77582342 | |||||||
chr14:77582350 | G | A | 1 | a0001c0001t0001g0129 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.328-3241C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77582350 | |||||||
chr14:77582372 | T | C | 236 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(233): Show |
237 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(234): Show |
intron_variant | MODIFIER | c.328-3263A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77582372 | |||||||
chr14:77582549 | A | T | 32 | a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0120 others(29): Show |
32 | HG00323.hp2 HG00408.hp1 HG00741.hp1 others(29): Show |
intron_variant | MODIFIER | c.328-3440T>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77582549 | |||||||
chr14:77582751 | G | C | 8 | a0001c0001t0001g0009 a0001c0001t0001g0206 a0001c0001t0001g0207 others(5): Show |
8 | HG00323.hp1 HG00735.hp1 HG00738.hp2 others(5): Show |
intron_variant | MODIFIER | c.328-3642C>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77582751 | |||||||
chr14:77582775 | G | A | 1 | a0001c0003t0001g0011 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.328-3666C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77582775 | |||||||
chr14:77582892 | T | C | 50 | a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0040 others(47): Show |
50 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(47): Show |
intron_variant | MODIFIER | c.328-3783A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77582892 | |||||||
chr14:77582979 | C | T | 45 | a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0022 others(42): Show |
45 | HG00621.hp1 HG00642.hp1 HG00733.hp1 others(42): Show |
intron_variant | MODIFIER | c.328-3870G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77582979 | |||||||
chr14:77583059 | G | A | 70 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0031 others(67): Show |
71 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(68): Show |
intron_variant | MODIFIER | c.328-3950C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77583059 | |||||||
chr14:77583169 | T | C | 1 | a0001c0001t0001g0216 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.328-4060A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77583169 | |||||||
chr14:77583199 | C | CAATA | 57 | a0001c0001t0001g0001 a0001c0001t0001g0031 a0001c0001t0001g0036 others(54): Show |
58 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(55): Show |
intron_variant | MODIFIER | c.328-4094_328-4091d others(6): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77583199 | |||||||
chr14:77583199 | C | CAATAAAT others(1): Show |
56 | a0001c0001t0001g0009 a0001c0001t0001g0023 a0001c0001t0001g0040 others(53): Show |
56 | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(53): Show |
intron_variant | MODIFIER | c.328-4098_328-4091d others(10): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77583199 | |||||||
chr14:77583199 | C | CAATAAAT others(5): Show |
32 | a0001c0001t0001g0030 a0001c0001t0001g0048 a0001c0001t0001g0050 others(29): Show |
32 | HG00323.hp2 HG00408.hp2 HG00438.hp1 others(29): Show |
intron_variant | MODIFIER | c.328-4102_328-4091d others(14): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77583199 | |||||||
chr14:77583199 | CAATA | C | 59 | a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0022 others(56): Show |
59 | HG00621.hp1 HG00642.hp1 HG00733.hp1 others(56): Show |
intron_variant | MODIFIER | c.328-4094_328-4091d others(6): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77583199 | |||||||
chr14:77583199 | CAATAAAT others(1): Show |
C | 2 | a0001c0001t0003g0064 a0001c0005t0038g0138 |
2 | HG02145.hp2 HG02723.hp1 |
intron_variant | MODIFIER | c.328-4098_328-4091d others(10): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77583199 | |||||||
chr14:77583253 | T | A | 84 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0031 others(81): Show |
85 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(82): Show |
intron_variant | MODIFIER | c.328-4144A>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77583253 | |||||||
chr14:77583391 | C | T | 83 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0031 others(80): Show |
84 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(81): Show |
intron_variant | MODIFIER | c.328-4282G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77583391 | |||||||
chr14:77583481 | T | C | 1 | a0001c0001t0001g0157 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.328-4372A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77583481 | |||||||
chr14:77583500 | G | A | 3 | a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0004t0004g0190 |
3 | HG02717.hp2 HG03471.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.328-4391C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77583500 | |||||||
chr14:77583525 | G | A | 45 | a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0040 others(42): Show |
45 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(42): Show |
intron_variant | MODIFIER | c.328-4416C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77583525 | |||||||
chr14:77583550 | C | T | 3 | a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0015g0130 |
3 | HG00621.hp2 NA18945.hp2 NA18995.hp2 |
intron_variant | MODIFIER | c.328-4441G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77583550 | |||||||
chr14:77583642 | C | G | 10 | a0001c0002t0007g0236 a0001c0002t0007g0238 a0001c0002t0007g0239 others(7): Show |
10 | HG02109.hp2 HG02486.hp2 HG02630.hp1 others(7): Show |
intron_variant | MODIFIER | c.328-4533G>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77583642 | |||||||
chr14:77583762 | T | C | 1 | a0001c0001t0014g0099 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.328-4653A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77583762 | |||||||
chr14:77583824 | G | A | 2 | a0001c0001t0001g0119 a0001c0001t0001g0120 |
2 | HG00408.hp1 NA18747.hp1 |
intron_variant | MODIFIER | c.328-4715C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77583824 | |||||||
chr14:77584119 | G | C | 1 | a0001c0002t0005g0075 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.328-5010C>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77584119 | |||||||
chr14:77584219 | G | C | 13 | a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0002t0007g0236 others(10): Show |
13 | HG02109.hp2 HG02486.hp2 HG02630.hp1 others(10): Show |
intron_variant | MODIFIER | c.328-5110C>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77584219 | |||||||
chr14:77584328 | C | T | 8 | a0001c0001t0001g0009 a0001c0001t0001g0206 a0001c0001t0001g0207 others(5): Show |
8 | HG00323.hp1 HG00735.hp1 HG00738.hp2 others(5): Show |
intron_variant | MODIFIER | c.328-5219G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77584328 | |||||||
chr14:77584443 | T | C | 1 | a0001c0011t0041g0078 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.328-5334A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77584443 | |||||||
chr14:77584518 | T | TATC | 116 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0031 others(113): Show |
117 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(114): Show |
intron_variant | MODIFIER | c.328-5410_328-5409i others(5): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77584518 | |||||||
chr14:77584662 | C | A | 1 | a0001c0001t0001g0129 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.328-5553G>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77584662 | |||||||
chr14:77584693 | G | A | 13 | a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0002t0007g0236 others(10): Show |
13 | HG02109.hp2 HG02486.hp2 HG02630.hp1 others(10): Show |
intron_variant | MODIFIER | c.328-5584C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77584693 | |||||||
chr14:77584796 | G | GACACACA others(1): Show |
11 | a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0002t0007g0236 others(8): Show |
11 | HG02109.hp2 HG02486.hp2 HG02630.hp1 others(8): Show |
intron_variant | MODIFIER | c.328-5695_328-5688d others(10): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77584796 | |||||||
chr14:77584796 | G | GACACACA others(3): Show |
1 | a0001c0002t0007g0243 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.328-5697_328-5688d others(12): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77584796 | |||||||
chr14:77584813 | T | G | 10 | a0001c0001t0002g0070 a0001c0001t0039g0100 a0001c0002t0002g0210 others(7): Show |
10 | HG01891.hp1 HG01891.hp2 HG02109.hp1 others(7): Show |
intron_variant | MODIFIER | c.328-5704A>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77584813 | |||||||
chr14:77584891 | G | C | 2 | a0001c0001t0001g0119 a0001c0001t0001g0120 |
2 | HG00408.hp1 NA18747.hp1 |
intron_variant | MODIFIER | c.328-5782C>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77584891 | |||||||
chr14:77584928 | C | T | 95 | a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0022 others(92): Show |
95 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(92): Show |
intron_variant | MODIFIER | c.328-5819G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77584928 | |||||||
chr14:77585064 | C | T | 1 | a0001c0001t0001g0133 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.328-5955G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77585064 | |||||||
chr14:77585065 | G | A | 13 | a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0002t0007g0236 others(10): Show |
13 | HG02109.hp2 HG02486.hp2 HG02630.hp1 others(10): Show |
intron_variant | MODIFIER | c.328-5956C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77585065 | |||||||
chr14:77585283 | G | A | 1 | a0001c0001t0049g0232 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.328-6174C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77585283 | |||||||
chr14:77585336 | C | A | 1 | a0001c0001t0050g0237 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.328-6227G>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77585336 | |||||||
chr14:77585430 | T | C | 1 | a0001c0006t0022g0004 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.328-6321A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77585430 | |||||||
chr14:77585463 | T | C | 3 | a0001c0001t0001g0139 a0001c0001t0001g0171 a0001c0001t0016g0136 |
3 | HG01069.hp2 HG01243.hp2 HG02280.hp2 |
intron_variant | MODIFIER | c.328-6354A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77585463 | |||||||
chr14:77585475 | C | T | 2 | a0001c0001t0001g0079 a0001c0001t0001g0086 |
2 | HG00438.hp2 NA19000.hp1 |
intron_variant | MODIFIER | c.328-6366G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77585475 | |||||||
chr14:77585735 | G | A | 15 | a0001c0001t0001g0229 a0001c0001t0003g0189 a0001c0001t0003g0221 others(12): Show |
15 | HG01069.hp1 HG01071.hp2 HG01168.hp2 others(12): Show |
intron_variant | MODIFIER | c.328-6626C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77585735 | |||||||
chr14:77585751 | C | A | 13 | a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0002t0007g0236 others(10): Show |
13 | HG02109.hp2 HG02486.hp2 HG02630.hp1 others(10): Show |
intron_variant | MODIFIER | c.328-6642G>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77585751 | |||||||
chr14:77585802 | A | G | 1 | a0001c0002t0028g0173 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.328-6693T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77585802 | |||||||
chr14:77585825 | T | C | 13 | a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0002t0007g0236 others(10): Show |
13 | HG02109.hp2 HG02486.hp2 HG02630.hp1 others(10): Show |
intron_variant | MODIFIER | c.328-6716A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77585825 | |||||||
chr14:77585888 | T | C | 13 | a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0002t0007g0236 others(10): Show |
13 | HG02109.hp2 HG02486.hp2 HG02630.hp1 others(10): Show |
intron_variant | MODIFIER | c.328-6779A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77585888 | |||||||
chr14:77585943 | A | G | 3 | a0001c0001t0046g0233 a0001c0004t0004g0190 a0001c0011t0041g0078 |
3 | HG01358.hp2 HG02717.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.328-6834T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77585943 | |||||||
chr14:77586036 | T | C | 1 | a0001c0006t0022g0004 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.328-6927A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77586036 | |||||||
chr14:77586078 | C | CT | 27 | a0001c0001t0001g0009 a0001c0001t0001g0115 a0001c0001t0001g0119 others(24): Show |
27 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(24): Show |
intron_variant | MODIFIER | c.328-6970dupA | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77586078 | |||||||
chr14:77586078 | C | CTT | 63 | a0001c0001t0001g0001 a0001c0001t0001g0031 a0001c0001t0001g0036 others(60): Show |
64 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(61): Show |
intron_variant | MODIFIER | c.328-6971_328-6970d others(4): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77586078 | |||||||
chr14:77586078 | CT | C | 74 | a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0022 others(71): Show |
74 | HG00621.hp1 HG00642.hp1 HG00733.hp1 others(71): Show |
intron_variant | MODIFIER | c.328-6970delA | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77586078 | |||||||
chr14:77586137 | G | A | 1 | a0001c0001t0001g0129 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.328-7028C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77586137 | |||||||
chr14:77586143 | T | C | 2 | a0001c0002t0002g0224 a0001c0009t0004g0062 |
2 | HG02622.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.328-7034A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77586143 | |||||||
chr14:77586225 | A | G | 116 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0031 others(113): Show |
117 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(114): Show |
intron_variant | MODIFIER | c.328-7116T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77586225 | |||||||
chr14:77586232 | T | C | 15 | a0001c0001t0001g0229 a0001c0001t0003g0189 a0001c0001t0003g0221 others(12): Show |
15 | HG01069.hp1 HG01071.hp2 HG01168.hp2 others(12): Show |
intron_variant | MODIFIER | c.328-7123A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77586232 | |||||||
chr14:77586237 | C | T | 1 | a0001c0001t0008g0118 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.328-7128G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77586237 | |||||||
chr14:77586304 | G | A | 24 | a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0024 others(21): Show |
24 | HG00621.hp1 HG00642.hp1 HG00738.hp1 others(21): Show |
intron_variant | MODIFIER | c.328-7195C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77586304 | |||||||
chr14:77586338 | A | C | 95 | a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0022 others(92): Show |
95 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(92): Show |
intron_variant | MODIFIER | c.328-7229T>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77586338 | |||||||
chr14:77586450 | T | C | 10 | a0001c0002t0007g0236 a0001c0002t0007g0238 a0001c0002t0007g0239 others(7): Show |
10 | HG02109.hp2 HG02486.hp2 HG02630.hp1 others(7): Show |
intron_variant | MODIFIER | c.328-7341A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77586450 | |||||||
chr14:77586466 | G | A | 116 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0031 others(113): Show |
117 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(114): Show |
intron_variant | MODIFIER | c.328-7357C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77586466 | |||||||
chr14:77586493 | T | C | 1 | a0001c0005t0037g0055 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.328-7384A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77586493 | |||||||
chr14:77586545 | A | G | 13 | a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0002t0007g0236 others(10): Show |
13 | HG02109.hp2 HG02486.hp2 HG02630.hp1 others(10): Show |
intron_variant | MODIFIER | c.328-7436T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77586545 | |||||||
chr14:77587052 | G | A | 1 | a0001c0001t0001g0102 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.328-7943C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77587052 | |||||||
chr14:77587131 | G | A | 10 | a0001c0001t0002g0070 a0001c0001t0039g0100 a0001c0002t0002g0210 others(7): Show |
10 | HG01891.hp1 HG01891.hp2 HG02109.hp1 others(7): Show |
intron_variant | MODIFIER | c.328-8022C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77587131 | |||||||
chr14:77587230 | C | CA | 51 | a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0040 others(48): Show |
51 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(48): Show |
intron_variant | MODIFIER | c.328-8122dupT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77587230 | |||||||
chr14:77587258 | C | T | 3 | a0001c0001t0003g0064 a0001c0003t0017g0063 a0001c0005t0038g0138 |
3 | HG02145.hp2 HG02723.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.328-8149G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77587258 | |||||||
chr14:77587402 | A | T | 3 | a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0004t0004g0190 |
3 | HG02717.hp2 HG03471.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.328-8293T>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77587402 | |||||||
chr14:77587511 | A | T | 1 | a0001c0003t0023g0132 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.328-8402T>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77587511 | |||||||
chr14:77587546 | C | CA | 45 | a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0040 others(42): Show |
45 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(42): Show |
intron_variant | MODIFIER | c.328-8438dupT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77587546 | |||||||
chr14:77587595 | G | A | 1 | a0001c0001t0001g0069 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.328-8486C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77587595 | |||||||
chr14:77587643 | T | A | 1 | a0001c0003t0023g0132 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.328-8534A>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77587643 | |||||||
chr14:77587664 | G | A | 3 | a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0004t0004g0190 |
3 | HG02717.hp2 HG03471.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.328-8555C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77587664 | |||||||
chr14:77587735 | C | T | 3 | a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0004t0004g0190 |
3 | HG02717.hp2 HG03471.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.328-8626G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77587735 | |||||||
chr14:77587759 | A | AAAT | 20 | a0001c0001t0002g0070 a0001c0001t0014g0099 a0001c0001t0039g0100 others(17): Show |
20 | HG01106.hp1 HG01891.hp1 HG01891.hp2 others(17): Show |
intron_variant | MODIFIER | c.328-8653_328-8651d others(5): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77587759 | |||||||
chr14:77587759 | A | AAATAAT | 27 | a0001c0001t0001g0056 a0001c0001t0001g0115 a0001c0001t0001g0119 others(24): Show |
27 | HG00099.hp2 HG00323.hp2 HG00741.hp1 others(24): Show |
intron_variant | MODIFIER | c.328-8656_328-8651d others(8): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77587759 | |||||||
chr14:77587759 | A | AAATAATA others(2): Show |
15 | a0001c0001t0001g0009 a0001c0001t0001g0120 a0001c0001t0001g0206 others(12): Show |
15 | HG00323.hp1 HG00408.hp1 HG00735.hp1 others(12): Show |
intron_variant | MODIFIER | c.328-8659_328-8651d others(11): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77587759 | |||||||
chr14:77587759 | A | AAATAATA others(5): Show |
43 | a0001c0001t0001g0001 a0001c0001t0001g0031 a0001c0001t0001g0036 others(40): Show |
44 | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(41): Show |
intron_variant | MODIFIER | c.328-8662_328-8651d others(14): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77587759 | |||||||
chr14:77587759 | A | AAATAATA others(8): Show |
7 | a0001c0001t0001g0140 a0001c0001t0001g0147 a0001c0001t0001g0148 others(4): Show |
7 | HG01167.hp2 HG02293.hp2 HG02523.hp1 others(4): Show |
intron_variant | MODIFIER | c.328-8665_328-8651d others(17): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77587759 | |||||||
chr14:77587759 | A | AAATAATA others(14): Show |
1 | a0001c0001t0014g0131 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.328-8671_328-8651d others(23): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77587759 | |||||||
chr14:77587789 | T | TAATAATA others(5): Show |
1 | a0001c0001t0001g0151 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.328-8681_328-8680i others(14): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77587789 | |||||||
chr14:77587827 | A | G | 1 | a0001c0001t0001g0147 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.328-8718T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77587827 | |||||||
chr14:77587881 | T | TA | 71 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0031 others(68): Show |
72 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(69): Show |
intron_variant | MODIFIER | c.328-8773dupT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77587881 | |||||||
chr14:77587925 | T | TTTG | 56 | a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0040 others(53): Show |
56 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(53): Show |
intron_variant | MODIFIER | c.328-8819_328-8817d others(5): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77587925 | |||||||
chr14:77588003 | T | C | 45 | a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0022 others(42): Show |
45 | HG00621.hp1 HG00642.hp1 HG00733.hp1 others(42): Show |
intron_variant | MODIFIER | c.328-8894A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77588003 | |||||||
chr14:77588131 | A | G | 1 | a0001c0001t0001g0093 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.328-9022T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77588131 | |||||||
chr14:77588379 | T | TG | 10 | a0001c0002t0007g0236 a0001c0002t0007g0238 a0001c0002t0007g0239 others(7): Show |
10 | HG02109.hp2 HG02486.hp2 HG02630.hp1 others(7): Show |
intron_variant | MODIFIER | c.327+8806dupC | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77588379 | |||||||
chr14:77588408 | T | C | 3 | a0001c0004t0004g0141 a0001c0004t0004g0142 a0001c0004t0004g0183 |
3 | HG02622.hp2 HG03579.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.327+8778A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77588408 | |||||||
chr14:77588527 | CA | C | 100 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0031 others(97): Show |
101 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(98): Show |
intron_variant | MODIFIER | c.327+8658delT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77588527 | |||||||
chr14:77588555 | T | C | 45 | a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0040 others(42): Show |
45 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(42): Show |
intron_variant | MODIFIER | c.327+8631A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77588555 | |||||||
chr14:77588694 | T | A | 1 | a0001c0004t0004g0190 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.327+8492A>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77588694 | |||||||
chr14:77588702 | GA | G | 92 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0031 others(89): Show |
93 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(90): Show |
intron_variant | MODIFIER | c.327+8483delT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77588702 | |||||||
chr14:77588890 | G | A | 22 | a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0120 others(19): Show |
22 | HG00323.hp2 HG00408.hp1 HG00741.hp1 others(19): Show |
intron_variant | MODIFIER | c.327+8296C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77588890 | |||||||
chr14:77588996 | CA | C | 15 | a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 others(12): Show |
15 | HG00621.hp2 HG01106.hp1 HG01109.hp1 others(12): Show |
intron_variant | MODIFIER | c.327+8189delT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77588996 | |||||||
chr14:77588996 | CAA | C | 32 | a0001c0001t0001g0030 a0001c0001t0001g0040 a0001c0001t0001g0050 others(29): Show |
32 | HG00438.hp1 HG01243.hp1 HG02083.hp2 others(29): Show |
intron_variant | MODIFIER | c.327+8188_327+8189d others(4): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77588996 | |||||||
chr14:77588996 | CAAA | C | 19 | a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0023 others(16): Show |
19 | HG00621.hp1 HG00642.hp1 HG01928.hp2 others(16): Show |
intron_variant | MODIFIER | c.327+8187_327+8189d others(5): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77588996 | |||||||
chr14:77588996 | CAAAA | C | 30 | a0001c0001t0001g0010 a0001c0001t0001g0024 a0001c0001t0001g0033 others(27): Show |
30 | HG00738.hp1 HG01071.hp2 HG01099.hp1 others(27): Show |
intron_variant | MODIFIER | c.327+8186_327+8189d others(6): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77588996 | |||||||
chr14:77588996 | CAAAAA | C | 21 | a0001c0001t0001g0217 a0001c0001t0003g0184 a0001c0001t0003g0218 others(18): Show |
21 | HG00733.hp1 HG01069.hp1 HG01081.hp2 others(18): Show |
intron_variant | MODIFIER | c.327+8185_327+8189d others(7): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77588996 | |||||||
chr14:77588996 | CAAAAAAA others(5): Show |
C | 1 | a0001c0001t0001g0129 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.327+8178_327+8189d others(14): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77588996 | |||||||
chr14:77588996 | CAAAAAAA others(6): Show |
C | 6 | a0001c0001t0001g0036 a0001c0001t0001g0120 a0001c0001t0001g0161 others(3): Show |
6 | HG00408.hp1 HG01071.hp1 HG01081.hp1 others(3): Show |
intron_variant | MODIFIER | c.327+8177_327+8189d others(15): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77588996 | |||||||
chr14:77588996 | CAAAAAAA others(7): Show |
C | 36 | a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0115 others(33): Show |
36 | HG00323.hp2 HG00741.hp1 HG01123.hp2 others(33): Show |
intron_variant | MODIFIER | c.327+8176_327+8189d others(16): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77588996 | |||||||
chr14:77588996 | CAAAAAAA others(8): Show |
C | 62 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0031 others(59): Show |
63 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(60): Show |
intron_variant | MODIFIER | c.327+8175_327+8189d others(17): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77588996 | |||||||
chr14:77588996 | CAAAAAAA others(9): Show |
C | 5 | a0001c0001t0001g0079 a0001c0001t0001g0086 a0001c0001t0001g0193 others(2): Show |
5 | HG00438.hp2 HG01167.hp1 HG01167.hp2 others(2): Show |
intron_variant | MODIFIER | c.327+8174_327+8189d others(18): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77588996 | |||||||
chr14:77588996 | CAAAAAAA others(10): Show |
C | 3 | a0001c0001t0001g0096 a0001c0001t0009g0084 a0001c0001t0009g0085 |
3 | NA18953.hp1 NA18995.hp1 NA19010.hp1 |
intron_variant | MODIFIER | c.327+8173_327+8189d others(19): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77588996 | |||||||
chr14:77589034 | CAAAG | C | 10 | a0001c0002t0007g0236 a0001c0002t0007g0238 a0001c0002t0007g0239 others(7): Show |
10 | HG02109.hp2 HG02486.hp2 HG02630.hp1 others(7): Show |
intron_variant | MODIFIER | c.327+8148_327+8151d others(6): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77589034 | |||||||
chr14:77589055 | G | A | 42 | a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0040 others(39): Show |
42 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(39): Show |
intron_variant | MODIFIER | c.327+8131C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77589055 | |||||||
chr14:77589275 | C | T | 1 | a0001c0001t0024g0220 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.327+7911G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77589275 | |||||||
chr14:77589310 | G | A | 22 | a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0120 others(19): Show |
22 | HG00323.hp2 HG00408.hp1 HG00741.hp1 others(19): Show |
intron_variant | MODIFIER | c.327+7876C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77589310 | |||||||
chr14:77589376 | T | C | 1 | a0001c0003t0023g0132 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.327+7810A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77589376 | |||||||
chr14:77589482 | CT | C | 206 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(203): Show |
207 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(204): Show |
intron_variant | MODIFIER | c.327+7703delA | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77589482 | |||||||
chr14:77589512 | A | G | 10 | a0001c0002t0007g0236 a0001c0002t0007g0238 a0001c0002t0007g0239 others(7): Show |
10 | HG02109.hp2 HG02486.hp2 HG02630.hp1 others(7): Show |
intron_variant | MODIFIER | c.327+7674T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77589512 | |||||||
chr14:77589538 | C | T | 1 | a0001c0002t0002g0224 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.327+7648G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77589538 | |||||||
chr14:77589617 | C | T | 1 | a0001c0001t0001g0166 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.327+7569G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77589617 | |||||||
chr14:77589635 | C | G | 8 | a0001c0001t0001g0009 a0001c0001t0001g0206 a0001c0001t0001g0207 others(5): Show |
8 | HG00323.hp1 HG00735.hp1 HG00738.hp2 others(5): Show |
intron_variant | MODIFIER | c.327+7551G>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77589635 | |||||||
chr14:77589653 | T | G | 227 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(224): Show |
228 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(225): Show |
intron_variant | MODIFIER | c.327+7533A>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77589653 | |||||||
chr14:77589695 | C | T | 1 | a0001c0001t0001g0093 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.327+7491G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77589695 | |||||||
chr14:77589705 | G | A | 3 | a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0004t0004g0190 |
3 | HG02717.hp2 HG03471.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.327+7481C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77589705 | |||||||
chr14:77589719 | G | A | 1 | a0001c0010t0004g0230 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.327+7467C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77589719 | |||||||
chr14:77589779 | G | A | 22 | a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0120 others(19): Show |
22 | HG00323.hp2 HG00408.hp1 HG00741.hp1 others(19): Show |
intron_variant | MODIFIER | c.327+7407C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77589779 | |||||||
chr14:77589789 | C | CCA | 24 | a0001c0001t0001g0054 a0001c0001t0001g0229 a0001c0001t0002g0070 others(21): Show |
24 | HG00642.hp1 HG01069.hp1 HG01071.hp2 others(21): Show |
intron_variant | MODIFIER | c.327+7395_327+7396d others(4): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77589789 | |||||||
chr14:77589789 | C | CCACA | 56 | a0001c0001t0001g0001 a0001c0001t0001g0024 a0001c0001t0001g0036 others(53): Show |
57 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(54): Show |
intron_variant | MODIFIER | c.327+7393_327+7396d others(6): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77589789 | |||||||
chr14:77589789 | C | CCACACA | 36 | a0001c0001t0001g0009 a0001c0001t0001g0031 a0001c0001t0001g0115 others(33): Show |
36 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(33): Show |
intron_variant | MODIFIER | c.327+7391_327+7396d others(8): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77589789 | |||||||
chr14:77589789 | C | CCACACAC others(1): Show |
3 | a0001c0001t0035g0122 a0001c0004t0004g0190 a0001c0005t0037g0055 |
3 | HG02071.hp1 HG02559.hp1 HG02717.hp2 |
intron_variant | MODIFIER | c.327+7389_327+7396d others(10): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77589789 | |||||||
chr14:77589789 | C | CCACACAC others(3): Show |
3 | a0001c0001t0003g0184 a0001c0001t0003g0185 a0002c0007t0042g0128 |
3 | HG03471.hp2 HG03516.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.327+7387_327+7396d others(12): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77589789 | |||||||
chr14:77589789 | C | CCACACAC others(5): Show |
8 | a0001c0002t0007g0236 a0001c0002t0007g0238 a0001c0002t0007g0239 others(5): Show |
8 | HG02109.hp2 HG02486.hp2 HG02717.hp1 others(5): Show |
intron_variant | MODIFIER | c.327+7385_327+7396d others(14): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77589789 | |||||||
chr14:77589806 | C | T | 1 | a0001c0009t0004g0062 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.327+7380G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77589806 | |||||||
chr14:77589839 | G | C | 8 | a0001c0001t0001g0009 a0001c0001t0001g0206 a0001c0001t0001g0207 others(5): Show |
8 | HG00323.hp1 HG00735.hp1 HG00738.hp2 others(5): Show |
intron_variant | MODIFIER | c.327+7347C>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77589839 | |||||||
chr14:77589851 | G | A | 1 | a0001c0001t0001g0041 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.327+7335C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77589851 | |||||||
chr14:77589977 | CA | C | 94 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0031 others(91): Show |
95 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(92): Show |
intron_variant | MODIFIER | c.327+7208delT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77589977 | |||||||
chr14:77589984 | A | G | 21 | a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0120 others(18): Show |
21 | HG00323.hp2 HG00408.hp1 HG00741.hp1 others(18): Show |
intron_variant | MODIFIER | c.327+7202T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77589984 | |||||||
chr14:77589985 | A | G | 1 | a0001c0001t0008g0172 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.327+7201T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77589985 | |||||||
chr14:77590082 | C | T | 2 | a0001c0001t0001g0056 a0001c0001t0001g0072 |
2 | HG04115.hp2 HG04204.hp1 |
intron_variant | MODIFIER | c.327+7104G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77590082 | |||||||
chr14:77590202 | C | T | 91 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0031 others(88): Show |
92 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(89): Show |
intron_variant | MODIFIER | c.327+6984G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77590202 | |||||||
chr14:77590477 | G | A | 15 | a0001c0001t0001g0229 a0001c0001t0003g0189 a0001c0001t0003g0221 others(12): Show |
15 | HG01069.hp1 HG01071.hp2 HG01168.hp2 others(12): Show |
intron_variant | MODIFIER | c.327+6709C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77590477 | |||||||
chr14:77590540 | G | A | 2 | a0001c0002t0028g0173 a0001c0010t0004g0230 |
2 | HG02976.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.327+6646C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77590540 | |||||||
chr14:77590541 | C | A | 2 | a0001c0002t0028g0173 a0001c0010t0004g0230 |
2 | HG02976.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.327+6645G>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77590541 | |||||||
chr14:77590589 | G | A | 15 | a0001c0001t0001g0229 a0001c0001t0003g0189 a0001c0001t0003g0221 others(12): Show |
15 | HG01069.hp1 HG01071.hp2 HG01168.hp2 others(12): Show |
intron_variant | MODIFIER | c.327+6597C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77590589 | |||||||
chr14:77590630 | T | A | 92 | a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0022 others(89): Show |
92 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(89): Show |
intron_variant | MODIFIER | c.327+6556A>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77590630 | |||||||
chr14:77590862 | G | A | 47 | a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0040 others(44): Show |
47 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(44): Show |
intron_variant | MODIFIER | c.327+6324C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77590862 | |||||||
chr14:77590862 | G | C | 4 | a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0013 others(1): Show |
4 | HG02451.hp2 HG02572.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.327+6324C>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77590862 | |||||||
chr14:77590970 | C | T | 2 | a0001c0001t0021g0003 a0001c0006t0022g0004 |
2 | HG01081.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.327+6216G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77590970 | |||||||
chr14:77591023 | C | G | 1 | a0001c0002t0002g0195 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.327+6163G>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77591023 | |||||||
chr14:77591091 | G | A | 8 | a0001c0001t0001g0018 a0001c0001t0003g0014 a0001c0001t0003g0015 others(5): Show |
8 | HG01109.hp1 HG01884.hp1 HG02970.hp2 others(5): Show |
intron_variant | MODIFIER | c.327+6095C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77591091 | |||||||
chr14:77591222 | T | C | 1 | a0001c0002t0002g0224 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.327+5964A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77591222 | |||||||
chr14:77591299 | G | C | 9 | a0001c0002t0007g0236 a0001c0002t0007g0238 a0001c0002t0007g0239 others(6): Show |
9 | HG02109.hp2 HG02486.hp2 HG02630.hp1 others(6): Show |
intron_variant | MODIFIER | c.327+5887C>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77591299 | |||||||
chr14:77591445 | T | C | 5 | a0001c0001t0004g0029 a0001c0001t0013g0027 a0001c0001t0013g0028 others(2): Show |
5 | HG01109.hp1 HG01243.hp1 HG01884.hp1 others(2): Show |
intron_variant | MODIFIER | c.327+5741A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77591445 | |||||||
chr14:77591492 | T | G | 171 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0022 others(168): Show |
172 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(169): Show |
intron_variant | MODIFIER | c.327+5694A>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77591492 | |||||||
chr14:77591692 | C | CTGTA | 23 | a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0119 others(20): Show |
23 | HG00323.hp2 HG00408.hp1 HG00741.hp1 others(20): Show |
intron_variant | MODIFIER | c.327+5490_327+5493d others(6): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77591692 | |||||||
chr14:77591692 | C | CTGTATGT others(1): Show |
4 | a0001c0002t0006g0114 a0001c0002t0010g0065 a0001c0002t0010g0066 others(1): Show |
4 | HG01891.hp1 HG02818.hp2 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.327+5486_327+5493d others(10): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77591692 | |||||||
chr14:77591692 | CTGTATGT others(1): Show |
C | 51 | a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0040 others(48): Show |
51 | HG00280.hp1 HG00408.hp2 HG00438.hp1 others(48): Show |
intron_variant | MODIFIER | c.327+5486_327+5493d others(10): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77591692 | |||||||
chr14:77591692 | CTGTATGT others(9): Show |
C | 2 | a0001c0001t0011g0105 a0001c0001t0011g0106 |
2 | HG00642.hp2 HG00735.hp2 |
intron_variant | MODIFIER | c.327+5478_327+5493d others(18): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77591692 | |||||||
chr14:77591726 | G | T | 7 | a0001c0001t0004g0016 a0001c0002t0005g0187 a0001c0002t0005g0188 others(4): Show |
7 | HG02559.hp2 HG02572.hp1 HG02615.hp1 others(4): Show |
intron_variant | MODIFIER | c.327+5460C>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77591726 | |||||||
chr14:77591730 | G | GTATGTAT others(13): Show |
7 | a0001c0001t0001g0152 a0001c0001t0005g0180 a0001c0001t0025g0019 others(4): Show |
7 | HG01358.hp1 HG02080.hp1 HG02622.hp2 others(4): Show |
intron_variant | MODIFIER | c.327+5455_327+5456i others(22): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77591730 | |||||||
chr14:77591730 | G | GTATGTAT others(17): Show |
5 | a0001c0001t0001g0024 a0001c0001t0001g0164 a0001c0001t0003g0121 others(2): Show |
5 | HG01884.hp1 HG02895.hp2 HG03239.hp1 others(2): Show |
intron_variant | MODIFIER | c.327+5455_327+5456i others(26): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77591730 | |||||||
chr14:77591730 | G | GTATGTAT others(9): Show |
35 | a0001c0001t0001g0001 a0001c0001t0001g0039 a0001c0001t0001g0046 others(32): Show |
36 | HG00099.hp2 HG01081.hp1 HG01099.hp2 others(33): Show |
intron_variant | MODIFIER | c.327+5455_327+5456i others(18): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77591730 | |||||||
chr14:77591730 | G | GTATGTAT others(13): Show |
15 | a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0031 others(12): Show |
15 | HG00621.hp1 HG00642.hp1 HG01099.hp1 others(12): Show |
intron_variant | MODIFIER | c.327+5455_327+5456i others(22): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77591730 | |||||||
chr14:77591730 | G | GTATGTAT others(5): Show |
24 | a0001c0001t0001g0059 a0001c0001t0001g0134 a0001c0001t0001g0139 others(21): Show |
24 | HG00099.hp1 HG00558.hp1 HG00733.hp2 others(21): Show |
intron_variant | MODIFIER | c.327+5455_327+5456i others(14): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77591730 | |||||||
chr14:77591730 | G | GTATGTAT others(9): Show |
14 | a0001c0001t0001g0010 a0001c0001t0001g0036 a0001c0001t0001g0037 others(11): Show |
14 | HG00738.hp1 HG01071.hp1 HG01109.hp1 others(11): Show |
intron_variant | MODIFIER | c.327+5455_327+5456i others(18): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77591730 | |||||||
chr14:77591730 | G | GTATGTAT others(1): Show |
11 | a0001c0001t0001g0129 a0001c0001t0003g0064 a0001c0001t0046g0233 others(8): Show |
11 | HG01358.hp2 HG02451.hp2 HG02559.hp1 others(8): Show |
intron_variant | MODIFIER | c.327+5455_327+5456i others(10): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77591730 | |||||||
chr14:77591730 | G | GTATGTAT others(9): Show |
3 | a0001c0001t0021g0003 a0001c0006t0018g0074 a0001c0006t0022g0004 |
3 | HG01081.hp2 HG02922.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.327+5455_327+5456i others(18): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77591730 | |||||||
chr14:77591730 | G | GTATTTAT others(1): Show |
15 | a0001c0001t0001g0035 a0001c0001t0001g0229 a0001c0001t0003g0221 others(12): Show |
15 | HG01069.hp1 HG01071.hp2 HG01168.hp2 others(12): Show |
intron_variant | MODIFIER | c.327+5448_327+5455d others(10): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77591730 | |||||||
chr14:77591730 | G | T | 60 | a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0040 others(57): Show |
60 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(57): Show |
intron_variant | MODIFIER | c.327+5456C>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77591730 | |||||||
chr14:77591765 | C | T | 3 | a0001c0001t0039g0100 a0001c0002t0005g0075 a0001c0002t0005g0076 |
3 | HG03486.hp1 NA18906.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.327+5421G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77591765 | |||||||
chr14:77591797 | C | A | 1 | a0001c0001t0001g0081 | 1 | NA18986.hp2 | intron_variant | MODIFIER | c.327+5389G>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77591797 | |||||||
chr14:77591883 | C | T | 2 | a0001c0001t0001g0158 a0001c0001t0001g0191 |
2 | HG02523.hp2 NA19066.hp2 |
intron_variant | MODIFIER | c.327+5303G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77591883 | |||||||
chr14:77591914 | C | G | 85 | a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0040 others(82): Show |
85 | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(82): Show |
intron_variant | MODIFIER | c.327+5272G>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77591914 | |||||||
chr14:77591935 | G | A | 10 | a0001c0001t0019g0245 a0001c0002t0007g0236 a0001c0002t0007g0238 others(7): Show |
10 | HG02109.hp2 HG02486.hp2 HG02630.hp1 others(7): Show |
intron_variant | MODIFIER | c.327+5251C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77591935 | |||||||
chr14:77591988 | T | A | 10 | a0001c0001t0019g0245 a0001c0002t0007g0236 a0001c0002t0007g0238 others(7): Show |
10 | HG02109.hp2 HG02486.hp2 HG02630.hp1 others(7): Show |
intron_variant | MODIFIER | c.327+5198A>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77591988 | |||||||
chr14:77591992 | A | G | 4 | a0001c0001t0046g0233 a0001c0001t0047g0231 a0001c0001t0048g0234 others(1): Show |
4 | HG01358.hp2 HG03654.hp1 HG03710.hp1 others(1): Show |
intron_variant | MODIFIER | c.327+5194T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77591992 | |||||||
chr14:77592002 | A | G | 10 | a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0004g0016 others(7): Show |
10 | HG02559.hp2 HG02572.hp1 HG02615.hp1 others(7): Show |
intron_variant | MODIFIER | c.327+5184T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77592002 | |||||||
chr14:77592075 | CCAAA | C | 8 | a0001c0001t0039g0100 a0001c0002t0005g0075 a0001c0002t0005g0076 others(5): Show |
8 | HG02451.hp2 HG02572.hp2 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.327+5107_327+5110d others(6): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77592075 | |||||||
chr14:77592117 | T | G | 24 | a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0119 others(21): Show |
24 | HG00323.hp2 HG00408.hp1 HG00642.hp2 others(21): Show |
intron_variant | MODIFIER | c.327+5069A>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77592117 | |||||||
chr14:77592263 | T | C | 4 | a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0013 others(1): Show |
4 | HG02451.hp2 HG02572.hp2 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.327+4923A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77592263 | |||||||
chr14:77592292 | G | A | 10 | a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0004g0016 others(7): Show |
10 | HG02559.hp2 HG02572.hp1 HG02615.hp1 others(7): Show |
intron_variant | MODIFIER | c.327+4894C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77592292 | |||||||
chr14:77592534 | C | T | 5 | a0001c0001t0046g0233 a0001c0001t0047g0231 a0001c0001t0048g0234 others(2): Show |
5 | HG01358.hp2 HG02559.hp1 HG03654.hp1 others(2): Show |
intron_variant | MODIFIER | c.327+4652G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77592534 | |||||||
chr14:77592564 | C | T | 56 | a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0137 others(53): Show |
56 | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(53): Show |
intron_variant | MODIFIER | c.327+4622G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77592564 | |||||||
chr14:77592683 | A | G | 2 | a0001c0001t0001g0081 a0001c0001t0001g0101 |
2 | HG00621.hp1 NA18986.hp2 |
intron_variant | MODIFIER | c.327+4503T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77592683 | |||||||
chr14:77592930 | T | G | 1 | a0001c0001t0002g0071 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.327+4256A>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77592930 | |||||||
chr14:77592977 | A | C | 201 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0022 others(198): Show |
202 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(199): Show |
intron_variant | MODIFIER | c.327+4209T>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77592977 | |||||||
chr14:77593026 | C | T | 3 | a0001c0001t0001g0082 a0001c0001t0001g0089 a0001c0001t0001g0102 |
3 | HG00621.hp2 NA18950.hp1 NA18968.hp1 |
intron_variant | MODIFIER | c.327+4160G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77593026 | |||||||
chr14:77593051 | C | T | 11 | a0001c0001t0019g0245 a0001c0002t0007g0236 a0001c0002t0007g0238 others(8): Show |
11 | HG02109.hp2 HG02486.hp2 HG02630.hp1 others(8): Show |
intron_variant | MODIFIER | c.327+4135G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77593051 | |||||||
chr14:77593060 | G | A | 4 | a0001c0002t0005g0187 a0001c0002t0005g0188 a0001c0002t0020g0002 others(1): Show |
4 | HG02572.hp1 HG02615.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.327+4126C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77593060 | |||||||
chr14:77593119 | A | T | 51 | a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0119 others(48): Show |
51 | HG00323.hp2 HG00408.hp1 HG00642.hp2 others(48): Show |
intron_variant | MODIFIER | c.327+4067T>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77593119 | |||||||
chr14:77593126 | T | A | 1 | a0001c0001t0001g0177 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.327+4060A>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77593126 | |||||||
chr14:77593150 | A | C | 1 | a0001c0001t0036g0083 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.327+4036T>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77593150 | |||||||
chr14:77593245 | A | C | 1 | a0001c0001t0002g0071 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.327+3941T>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77593245 | |||||||
chr14:77593261 | G | A | 10 | a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0004g0016 others(7): Show |
10 | HG02559.hp2 HG02572.hp1 HG02615.hp1 others(7): Show |
intron_variant | MODIFIER | c.327+3925C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77593261 | |||||||
chr14:77593288 | T | C | 10 | a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0004g0016 others(7): Show |
10 | HG02559.hp2 HG02572.hp1 HG02615.hp1 others(7): Show |
intron_variant | MODIFIER | c.327+3898A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77593288 | |||||||
chr14:77593573 | T | C | 1 | a0001c0001t0001g0129 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.327+3613A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77593573 | |||||||
chr14:77593608 | C | T | 1 | a0001c0001t0001g0036 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.327+3578G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77593608 | |||||||
chr14:77593637 | T | C | 8 | a0001c0001t0001g0144 a0001c0001t0001g0161 a0001c0001t0001g0162 others(5): Show |
8 | HG00099.hp2 HG01081.hp1 HG01099.hp2 others(5): Show |
intron_variant | MODIFIER | c.327+3549A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77593637 | |||||||
chr14:77593659 | C | T | 1 | a0001c0011t0041g0078 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.327+3527G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77593659 | |||||||
chr14:77593688 | C | T | 219 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0022 others(216): Show |
220 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(217): Show |
intron_variant | MODIFIER | c.327+3498G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77593688 | |||||||
chr14:77594039 | A | C | 20 | a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0004g0016 others(17): Show |
20 | HG02109.hp2 HG02486.hp2 HG02559.hp2 others(17): Show |
intron_variant | MODIFIER | c.327+3147T>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77594039 | |||||||
chr14:77594375 | C | T | 2 | a0001c0001t0003g0184 a0001c0001t0003g0185 |
2 | HG03471.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.327+2811G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77594375 | |||||||
chr14:77594503 | A | G | 109 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0022 others(106): Show |
110 | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(107): Show |
intron_variant | MODIFIER | c.327+2683T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77594503 | |||||||
chr14:77594666 | A | G | 23 | a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0119 others(20): Show |
23 | HG00323.hp2 HG00408.hp1 HG00642.hp2 others(20): Show |
intron_variant | MODIFIER | c.327+2520T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77594666 | |||||||
chr14:77594693 | T | C | 1 | a0001c0006t0018g0074 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.327+2493A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77594693 | |||||||
chr14:77594825 | C | T | 7 | a0001c0001t0001g0001 a0001c0001t0001g0036 a0001c0001t0001g0037 others(4): Show |
8 | HG00642.hp1 HG01071.hp1 HG01123.hp1 others(5): Show |
intron_variant | MODIFIER | c.327+2361G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77594825 | |||||||
chr14:77594828 | G | A | 13 | a0001c0001t0001g0229 a0001c0001t0003g0221 a0001c0001t0003g0226 others(10): Show |
13 | HG01069.hp1 HG01071.hp2 HG01168.hp2 others(10): Show |
intron_variant | MODIFIER | c.327+2358C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77594828 | |||||||
chr14:77594829 | G | A | 53 | a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0137 others(50): Show |
53 | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(50): Show |
intron_variant | MODIFIER | c.327+2357C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77594829 | |||||||
chr14:77594830 | A | G | 1 | a0001c0001t0009g0084 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.327+2356T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77594830 | |||||||
chr14:77594845 | TAA | T | 34 | a0001c0001t0001g0023 a0001c0001t0001g0067 a0001c0001t0001g0069 others(31): Show |
34 | HG00280.hp1 HG00438.hp2 HG00558.hp2 others(31): Show |
intron_variant | MODIFIER | c.327+2339_327+2340d others(4): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77594845 | |||||||
chr14:77594890 | T | G | 57 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0022 others(54): Show |
58 | HG00438.hp1 HG00642.hp1 HG01071.hp1 others(55): Show |
intron_variant | MODIFIER | c.327+2296A>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77594890 | |||||||
chr14:77594892 | G | A | 10 | a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0004g0016 others(7): Show |
10 | HG02559.hp2 HG02572.hp1 HG02615.hp1 others(7): Show |
intron_variant | MODIFIER | c.327+2294C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77594892 | |||||||
chr14:77594901 | T | C | 2 | a0001c0001t0001g0035 a0001c0001t0044g0047 |
2 | HG03239.hp1 HG03834.hp1 |
intron_variant | MODIFIER | c.327+2285A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77594901 | |||||||
chr14:77594944 | A | T | 1 | a0001c0001t0001g0144 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.327+2242T>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77594944 | |||||||
chr14:77595024 | G | A | 3 | a0001c0001t0039g0100 a0001c0002t0005g0075 a0001c0002t0005g0076 |
3 | HG03486.hp1 NA18906.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.327+2162C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77595024 | |||||||
chr14:77595054 | A | T | 1 | a0001c0001t0045g0163 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.327+2132T>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77595054 | |||||||
chr14:77595124 | G | A | 1 | a0001c0002t0010g0066 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.327+2062C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77595124 | |||||||
chr14:77595134 | C | G | 10 | a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0004g0016 others(7): Show |
10 | HG02559.hp2 HG02572.hp1 HG02615.hp1 others(7): Show |
intron_variant | MODIFIER | c.327+2052G>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77595134 | |||||||
chr14:77595202 | T | A | 1 | a0001c0001t0001g0168 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.327+1984A>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77595202 | |||||||
chr14:77595297 | G | A | 3 | a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0010t0004g0230 |
3 | HG02451.hp2 HG02572.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.327+1889C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77595297 | |||||||
chr14:77595375 | G | A | 10 | a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0004g0016 others(7): Show |
10 | HG02559.hp2 HG02572.hp1 HG02615.hp1 others(7): Show |
intron_variant | MODIFIER | c.327+1811C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77595375 | |||||||
chr14:77595549 | G | A | 23 | a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0119 others(20): Show |
23 | HG00323.hp2 HG00408.hp1 HG00642.hp2 others(20): Show |
intron_variant | MODIFIER | c.327+1637C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77595549 | |||||||
chr14:77595602 | T | A | 1 | a0001c0002t0051g0244 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.327+1584A>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77595602 | |||||||
chr14:77596024 | A | G | 10 | a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0004g0016 others(7): Show |
10 | HG02559.hp2 HG02572.hp1 HG02615.hp1 others(7): Show |
intron_variant | MODIFIER | c.327+1162T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77596024 | |||||||
chr14:77596071 | T | C | 218 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0022 others(215): Show |
219 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(216): Show |
intron_variant | MODIFIER | c.327+1115A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77596071 | |||||||
chr14:77596301 | T | C | 18 | a0001c0001t0001g0129 a0001c0001t0001g0216 a0001c0001t0001g0217 others(15): Show |
18 | HG00280.hp2 HG00733.hp1 HG01069.hp1 others(15): Show |
intron_variant | MODIFIER | c.327+885A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77596301 | |||||||
chr14:77596306 | T | G | 1 | a0001c0001t0001g0097 | 1 | NA19091.hp2 | intron_variant | MODIFIER | c.327+880A>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77596306 | |||||||
chr14:77596337 | C | CA | 5 | a0001c0001t0001g0155 a0001c0001t0001g0169 a0001c0001t0012g0227 others(2): Show |
5 | HG02602.hp2 HG02738.hp1 HG03139.hp2 others(2): Show |
intron_variant | MODIFIER | c.327+848dupT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77596337 | |||||||
chr14:77596341 | A | C | 86 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0022 others(83): Show |
87 | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(84): Show |
intron_variant | MODIFIER | c.327+845T>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77596341 | |||||||
chr14:77596354 | T | C | 11 | a0001c0001t0019g0245 a0001c0001t0050g0237 a0001c0002t0007g0236 others(8): Show |
11 | HG02109.hp2 HG02486.hp2 HG02630.hp1 others(8): Show |
intron_variant | MODIFIER | c.327+832A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77596354 | |||||||
chr14:77596363 | C | T | 1 | a0001c0001t0003g0064 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.327+823G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77596363 | |||||||
chr14:77596490 | C | G | 2 | a0001c0001t0004g0005 a0001c0001t0004g0006 |
2 | HG01069.hp1 HG01071.hp2 |
intron_variant | MODIFIER | c.327+696G>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77596490 | |||||||
chr14:77596497 | C | G | 23 | a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0119 others(20): Show |
23 | HG00323.hp2 HG00408.hp1 HG00642.hp2 others(20): Show |
intron_variant | MODIFIER | c.327+689G>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77596497 | |||||||
chr14:77596510 | T | TAAAC | 78 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0022 others(75): Show |
79 | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(76): Show |
intron_variant | MODIFIER | c.327+672_327+675dup others(4): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77596510 | |||||||
chr14:77596510 | T | TAAATAAA others(1): Show |
43 | a0001c0001t0001g0023 a0001c0001t0001g0067 a0001c0001t0001g0069 others(40): Show |
43 | HG00280.hp1 HG00438.hp2 HG00558.hp2 others(40): Show |
intron_variant | MODIFIER | c.327+675_327+676ins others(8): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77596510 | |||||||
chr14:77596510 | T | TAAATAAA others(5): Show |
1 | a0001c0001t0002g0070 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.327+675_327+676ins others(12): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77596510 | |||||||
chr14:77596530 | C | A | 1 | a0001c0001t0001g0129 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.327+656G>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77596530 | |||||||
chr14:77596571 | G | A | 1 | a0001c0002t0006g0123 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.327+615C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77596571 | |||||||
chr14:77596595 | T | TC | 10 | a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0004g0016 others(7): Show |
10 | HG02559.hp2 HG02572.hp1 HG02615.hp1 others(7): Show |
intron_variant | MODIFIER | c.327+590dupG | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77596595 | |||||||
chr14:77596626 | T | C | 3 | a0001c0001t0004g0016 a0001c0004t0004g0190 a0001c0006t0018g0017 |
3 | HG02559.hp2 HG02717.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.327+560A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77596626 | |||||||
chr14:77596651 | C | T | 34 | a0001c0001t0001g0023 a0001c0001t0001g0067 a0001c0001t0001g0069 others(31): Show |
34 | HG00280.hp1 HG00438.hp2 HG00558.hp2 others(31): Show |
intron_variant | MODIFIER | c.327+535G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77596651 | |||||||
chr14:77596688 | C | T | 1 | a0001c0001t0003g0143 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.327+498G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77596688 | |||||||
chr14:77596713 | A | ATG | 3 | a0001c0004t0004g0141 a0001c0004t0004g0142 a0001c0004t0004g0183 |
3 | HG02622.hp2 HG03579.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.327+471_327+472dup others(2): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77596713 | |||||||
chr14:77596751 | G | A | 1 | a0001c0001t0009g0174 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.327+435C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77596751 | |||||||
chr14:77596842 | C | A | 1 | a0001c0001t0001g0088 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.327+344G>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77596842 | |||||||
chr14:77596936 | T | G | 24 | a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0119 others(21): Show |
24 | HG00323.hp2 HG00408.hp1 HG00642.hp2 others(21): Show |
intron_variant | MODIFIER | c.327+250A>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77596936 | |||||||
chr14:77596988 | A | T | 1 | a0001c0002t0003g0032 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.327+198T>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77596988 | |||||||
chr14:77597081 | A | G | 1 | a0001c0001t0005g0178 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.327+105T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77597081 | |||||||
chr14:77597097 | A | C | 57 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0022 others(54): Show |
58 | HG00438.hp1 HG00642.hp1 HG01071.hp1 others(55): Show |
intron_variant | MODIFIER | c.327+89T>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | 77597097 | |||||||
chr14:77597480 | AT | A | 102 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0022 others(99): Show |
103 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(100): Show |
intron_variant | MODIFIER | c.133-101delA | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77597480 | |||||||
chr14:77597599 | A | AC | 102 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0022 others(99): Show |
103 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(100): Show |
intron_variant | MODIFIER | c.133-220dupG | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77597599 | |||||||
chr14:77597679 | GA | G | 5 | a0001c0001t0046g0233 a0001c0001t0047g0231 a0001c0001t0048g0234 others(2): Show |
5 | HG01358.hp2 HG02559.hp1 HG03654.hp1 others(2): Show |
intron_variant | MODIFIER | c.133-300delT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77597679 | |||||||
chr14:77597758 | A | C | 34 | a0001c0001t0001g0023 a0001c0001t0001g0067 a0001c0001t0001g0069 others(31): Show |
34 | HG00280.hp1 HG00438.hp2 HG00558.hp2 others(31): Show |
intron_variant | MODIFIER | c.133-378T>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77597758 | |||||||
chr14:77597819 | G | GA | 88 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0022 others(85): Show |
89 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(86): Show |
intron_variant | MODIFIER | c.133-440dupT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77597819 | |||||||
chr14:77597852 | G | A | 1 | a0001c0011t0041g0078 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.133-472C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77597852 | |||||||
chr14:77597870 | T | C | 1 | a0001c0011t0041g0078 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.133-490A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77597870 | |||||||
chr14:77597878 | C | G | 4 | a0001c0001t0001g0144 a0001c0001t0001g0162 a0001c0001t0003g0143 others(1): Show |
4 | HG00099.hp2 HG01081.hp1 HG01099.hp2 others(1): Show |
intron_variant | MODIFIER | c.133-498G>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77597878 | |||||||
chr14:77597895 | G | A | 3 | a0001c0002t0005g0187 a0001c0002t0005g0188 a0001c0002t0029g0186 |
3 | HG02572.hp1 HG02615.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.133-515C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77597895 | |||||||
chr14:77597919 | T | C | 5 | a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0013 others(2): Show |
5 | HG02451.hp2 HG02572.hp2 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.133-539A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77597919 | |||||||
chr14:77597978 | T | C | 144 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0022 others(141): Show |
145 | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(142): Show |
intron_variant | MODIFIER | c.133-598A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77597978 | |||||||
chr14:77597991 | G | A | 1 | a0001c0002t0002g0192 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.133-611C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77597991 | |||||||
chr14:77598011 | A | C | 102 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0022 others(99): Show |
103 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(100): Show |
intron_variant | MODIFIER | c.133-631T>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77598011 | |||||||
chr14:77598041 | G | C | 1 | a0001c0001t0012g0225 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.133-661C>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77598041 | |||||||
chr14:77598100 | A | C | 144 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0022 others(141): Show |
145 | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(142): Show |
intron_variant | MODIFIER | c.133-720T>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77598100 | |||||||
chr14:77598122 | C | CA | 142 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0022 others(139): Show |
143 | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(140): Show |
intron_variant | MODIFIER | c.133-743dupT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77598122 | |||||||
chr14:77598258 | G | C | 1 | a0001c0011t0041g0078 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.133-878C>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77598258 | |||||||
chr14:77598311 | T | C | 68 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0022 others(65): Show |
69 | HG00438.hp1 HG00642.hp1 HG01071.hp1 others(66): Show |
intron_variant | MODIFIER | c.133-931A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77598311 | |||||||
chr14:77598397 | T | C | 3 | a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0016g0068 |
3 | HG00280.hp1 HG01346.hp1 HG01516.hp1 |
intron_variant | MODIFIER | c.133-1017A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77598397 | |||||||
chr14:77598568 | G | A | 1 | a0001c0001t0030g0160 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.133-1188C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77598568 | |||||||
chr14:77598636 | A | G | 102 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0022 others(99): Show |
103 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(100): Show |
intron_variant | MODIFIER | c.133-1256T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77598636 | |||||||
chr14:77598643 | T | G | 1 | a0001c0001t0019g0245 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.133-1263A>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77598643 | |||||||
chr14:77598856 | G | A | 11 | a0001c0001t0019g0245 a0001c0001t0050g0237 a0001c0002t0007g0236 others(8): Show |
11 | HG02109.hp2 HG02486.hp2 HG02630.hp1 others(8): Show |
intron_variant | MODIFIER | c.133-1476C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77598856 | |||||||
chr14:77598920 | G | GA | 13 | a0001c0001t0001g0229 a0001c0001t0003g0221 a0001c0001t0003g0226 others(10): Show |
13 | HG01069.hp1 HG01071.hp2 HG01168.hp2 others(10): Show |
intron_variant | MODIFIER | c.133-1541dupT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77598920 | |||||||
chr14:77598920 | GA | G | 99 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0022 others(96): Show |
100 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(97): Show |
intron_variant | MODIFIER | c.133-1541delT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77598920 | |||||||
chr14:77598943 | C | T | 1 | a0001c0002t0002g0194 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.133-1563G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77598943 | |||||||
chr14:77598994 | A | C | 1 | a0001c0003t0023g0132 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.133-1614T>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77598994 | |||||||
chr14:77599007 | G | A | 1 | a0001c0011t0041g0078 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.133-1627C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77599007 | |||||||
chr14:77599032 | A | G | 1 | a0001c0001t0019g0245 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.133-1652T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77599032 | |||||||
chr14:77599057 | C | T | 144 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0022 others(141): Show |
145 | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(142): Show |
intron_variant | MODIFIER | c.133-1677G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77599057 | |||||||
chr14:77599074 | T | C | 102 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0022 others(99): Show |
103 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(100): Show |
intron_variant | MODIFIER | c.133-1694A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77599074 | |||||||
chr14:77599196 | T | A | 218 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0022 others(215): Show |
219 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(216): Show |
intron_variant | MODIFIER | c.133-1816A>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77599196 | |||||||
chr14:77599432 | C | G | 1 | a0001c0001t0001g0177 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.133-2052G>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77599432 | |||||||
chr14:77599466 | C | G | 101 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0022 others(98): Show |
102 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(99): Show |
intron_variant | MODIFIER | c.133-2086G>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77599466 | |||||||
chr14:77599858 | G | T | 10 | a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0004g0016 others(7): Show |
10 | HG02559.hp2 HG02572.hp1 HG02615.hp1 others(7): Show |
intron_variant | MODIFIER | c.133-2478C>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77599858 | |||||||
chr14:77600028 | C | A | 91 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0022 others(88): Show |
92 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(89): Show |
intron_variant | MODIFIER | c.133-2648G>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77600028 | |||||||
chr14:77600042 | C | T | 34 | a0001c0001t0001g0023 a0001c0001t0001g0067 a0001c0001t0001g0069 others(31): Show |
34 | HG00280.hp1 HG00438.hp2 HG00558.hp2 others(31): Show |
intron_variant | MODIFIER | c.133-2662G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77600042 | |||||||
chr14:77600058 | G | A | 1 | a0001c0005t0037g0055 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.133-2678C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77600058 | |||||||
chr14:77600318 | G | A | 56 | a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0137 others(53): Show |
56 | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(53): Show |
intron_variant | MODIFIER | c.133-2938C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77600318 | |||||||
chr14:77600634 | C | A | 1 | a0001c0001t0026g0159 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.133-3254G>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77600634 | |||||||
chr14:77600644 | T | C | 3 | a0001c0001t0039g0100 a0001c0002t0005g0075 a0001c0002t0005g0076 |
3 | HG03486.hp1 NA18906.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.133-3264A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77600644 | |||||||
chr14:77600699 | T | C | 23 | a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0119 others(20): Show |
23 | HG00323.hp2 HG00408.hp1 HG00642.hp2 others(20): Show |
intron_variant | MODIFIER | c.133-3319A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77600699 | |||||||
chr14:77600752 | T | C | 1 | a0001c0011t0041g0078 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.133-3372A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77600752 | |||||||
chr14:77600812 | A | G | 24 | a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0119 others(21): Show |
24 | HG00323.hp2 HG00408.hp1 HG00642.hp2 others(21): Show |
intron_variant | MODIFIER | c.133-3432T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77600812 | |||||||
chr14:77600958 | A | T | 102 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0022 others(99): Show |
103 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(100): Show |
intron_variant | MODIFIER | c.133-3578T>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77600958 | |||||||
chr14:77600984 | CAT | C | 10 | a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0004g0016 others(7): Show |
10 | HG02559.hp2 HG02572.hp1 HG02615.hp1 others(7): Show |
intron_variant | MODIFIER | c.133-3606_133-3605d others(4): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77600984 | |||||||
chr14:77601022 | G | A | 1 | a0001c0011t0041g0078 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.133-3642C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77601022 | |||||||
chr14:77601189 | T | C | 1 | a0001c0001t0034g0090 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.133-3809A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77601189 | |||||||
chr14:77601202 | C | T | 23 | a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0119 others(20): Show |
23 | HG00323.hp2 HG00408.hp1 HG00642.hp2 others(20): Show |
intron_variant | MODIFIER | c.133-3822G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77601202 | |||||||
chr14:77601300 | C | T | 38 | a0001c0001t0001g0023 a0001c0001t0001g0067 a0001c0001t0001g0069 others(35): Show |
38 | HG00280.hp1 HG00438.hp2 HG00558.hp2 others(35): Show |
intron_variant | MODIFIER | c.133-3920G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77601300 | |||||||
chr14:77601513 | A | C | 56 | a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0137 others(53): Show |
56 | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(53): Show |
intron_variant | MODIFIER | c.133-4133T>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77601513 | |||||||
chr14:77601543 | TG | T | 23 | a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0119 others(20): Show |
23 | HG00323.hp2 HG00408.hp1 HG00642.hp2 others(20): Show |
intron_variant | MODIFIER | c.133-4164delC | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77601543 | |||||||
chr14:77601573 | A | G | 1 | a0001c0011t0041g0078 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.133-4193T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77601573 | |||||||
chr14:77601579 | G | A | 102 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0022 others(99): Show |
103 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(100): Show |
intron_variant | MODIFIER | c.133-4199C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77601579 | |||||||
chr14:77601645 | G | A | 13 | a0001c0001t0001g0229 a0001c0001t0003g0221 a0001c0001t0003g0226 others(10): Show |
13 | HG01069.hp1 HG01071.hp2 HG01168.hp2 others(10): Show |
intron_variant | MODIFIER | c.133-4265C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77601645 | |||||||
chr14:77601706 | G | A | 3 | a0001c0001t0039g0100 a0001c0002t0005g0075 a0001c0002t0005g0076 |
3 | HG03486.hp1 NA18906.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.133-4326C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77601706 | |||||||
chr14:77601717 | G | A | 1 | a0001c0001t0003g0226 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.133-4337C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77601717 | |||||||
chr14:77601889 | G | A | 1 | a0001c0006t0018g0074 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.133-4509C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77601889 | |||||||
chr14:77601901 | G | A | 1 | a0001c0001t0001g0069 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.133-4521C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77601901 | |||||||
chr14:77601942 | A | G | 144 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0022 others(141): Show |
145 | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(142): Show |
intron_variant | MODIFIER | c.133-4562T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77601942 | |||||||
chr14:77601961 | T | A | 3 | a0001c0001t0039g0100 a0001c0002t0005g0075 a0001c0002t0005g0076 |
3 | HG03486.hp1 NA18906.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.133-4581A>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77601961 | |||||||
chr14:77601970 | G | A | 3 | a0001c0001t0039g0100 a0001c0002t0005g0075 a0001c0002t0005g0076 |
3 | HG03486.hp1 NA18906.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.133-4590C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77601970 | |||||||
chr14:77601993 | T | C | 5 | a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0013 others(2): Show |
5 | HG02451.hp2 HG02572.hp2 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.133-4613A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77601993 | |||||||
chr14:77602036 | C | T | 1 | a0001c0001t0025g0019 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.133-4656G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77602036 | |||||||
chr14:77602048 | G | A | 1 | a0001c0001t0024g0220 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.133-4668C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77602048 | |||||||
chr14:77602053 | C | T | 5 | a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0013 others(2): Show |
5 | HG02451.hp2 HG02572.hp2 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.133-4673G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77602053 | |||||||
chr14:77602114 | C | CCTCA | 112 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0022 others(109): Show |
113 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(110): Show |
intron_variant | MODIFIER | c.133-4735_133-4734i others(6): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77602114 | |||||||
chr14:77602150 | T | G | 102 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0022 others(99): Show |
103 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(100): Show |
intron_variant | MODIFIER | c.133-4770A>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77602150 | |||||||
chr14:77602298 | G | C | 31 | a0001c0001t0001g0023 a0001c0001t0001g0067 a0001c0001t0001g0069 others(28): Show |
31 | HG00280.hp1 HG00438.hp2 HG00558.hp2 others(28): Show |
intron_variant | MODIFIER | c.133-4918C>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77602298 | |||||||
chr14:77602509 | G | T | 23 | a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0119 others(20): Show |
23 | HG00323.hp2 HG00408.hp1 HG00642.hp2 others(20): Show |
intron_variant | MODIFIER | c.133-5129C>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77602509 | |||||||
chr14:77602514 | G | A | 5 | a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0013 others(2): Show |
5 | HG02451.hp2 HG02572.hp2 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.133-5134C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77602514 | |||||||
chr14:77602542 | TTGTTTC | T | 5 | a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0013 others(2): Show |
5 | HG02451.hp2 HG02572.hp2 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.133-5168_133-5163d others(8): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77602542 | |||||||
chr14:77602548 | CT | C | 55 | a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0137 others(52): Show |
55 | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(52): Show |
intron_variant | MODIFIER | c.133-5169delA | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77602548 | |||||||
chr14:77602550 | T | C | 5 | a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0013 others(2): Show |
5 | HG02451.hp2 HG02572.hp2 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.133-5170A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77602550 | |||||||
chr14:77602564 | T | TC | 23 | a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0119 others(20): Show |
23 | HG00323.hp2 HG00408.hp1 HG00642.hp2 others(20): Show |
intron_variant | MODIFIER | c.133-5185dupG | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77602564 | |||||||
chr14:77602610 | T | C | 28 | a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0119 others(25): Show |
28 | HG00323.hp2 HG00408.hp1 HG00642.hp2 others(25): Show |
intron_variant | MODIFIER | c.133-5230A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77602610 | |||||||
chr14:77602645 | G | A | 56 | a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0137 others(53): Show |
56 | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(53): Show |
intron_variant | MODIFIER | c.133-5265C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77602645 | |||||||
chr14:77602856 | G | GT | 3 | a0001c0001t0039g0100 a0001c0002t0005g0075 a0001c0002t0005g0076 |
3 | HG03486.hp1 NA18906.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.133-5477_133-5476i others(3): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77602856 | |||||||
chr14:77602858 | G | A | 3 | a0001c0001t0039g0100 a0001c0002t0005g0075 a0001c0002t0005g0076 |
3 | HG03486.hp1 NA18906.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.133-5478C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77602858 | |||||||
chr14:77602859 | C | T | 3 | a0001c0001t0039g0100 a0001c0002t0005g0075 a0001c0002t0005g0076 |
3 | HG03486.hp1 NA18906.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.133-5479G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77602859 | |||||||
chr14:77602911 | A | G | 1 | a0001c0001t0001g0129 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.133-5531T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77602911 | |||||||
chr14:77602998 | A | G | 1 | a0001c0001t0001g0048 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.133-5618T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77602998 | |||||||
chr14:77603022 | T | C | 1 | a0001c0001t0001g0158 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.133-5642A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77603022 | |||||||
chr14:77603129 | A | G | 56 | a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0137 others(53): Show |
56 | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(53): Show |
intron_variant | MODIFIER | c.133-5749T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77603129 | |||||||
chr14:77603287 | G | A | 1 | a0001c0001t0006g0154 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.133-5907C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77603287 | |||||||
chr14:77603332 | C | T | 23 | a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0119 others(20): Show |
23 | HG00323.hp2 HG00408.hp1 HG00642.hp2 others(20): Show |
intron_variant | MODIFIER | c.133-5952G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77603332 | |||||||
chr14:77603501 | T | C | 68 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0022 others(65): Show |
69 | HG00438.hp1 HG00642.hp1 HG01071.hp1 others(66): Show |
intron_variant | MODIFIER | c.133-6121A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77603501 | |||||||
chr14:77603582 | T | C | 10 | a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0004g0016 others(7): Show |
10 | HG02559.hp2 HG02572.hp1 HG02615.hp1 others(7): Show |
intron_variant | MODIFIER | c.133-6202A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77603582 | |||||||
chr14:77603755 | C | T | 1 | a0001c0001t0001g0034 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.133-6375G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77603755 | |||||||
chr14:77603970 | C | T | 23 | a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0119 others(20): Show |
23 | HG00323.hp2 HG00408.hp1 HG00642.hp2 others(20): Show |
intron_variant | MODIFIER | c.133-6590G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77603970 | |||||||
chr14:77604066 | G | T | 1 | a0001c0004t0004g0190 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.133-6686C>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77604066 | |||||||
chr14:77604117 | CT | C | 45 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0022 others(42): Show |
46 | HG00438.hp1 HG00642.hp1 HG01071.hp1 others(43): Show |
intron_variant | MODIFIER | c.133-6738delA | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77604117 | |||||||
chr14:77604146 | C | G | 2 | a0001c0001t0004g0005 a0001c0001t0004g0006 |
2 | HG01069.hp1 HG01071.hp2 |
intron_variant | MODIFIER | c.133-6766G>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77604146 | |||||||
chr14:77604265 | G | A | 5 | a0001c0001t0046g0233 a0001c0001t0047g0231 a0001c0001t0048g0234 others(2): Show |
5 | HG01358.hp2 HG02559.hp1 HG03654.hp1 others(2): Show |
intron_variant | MODIFIER | c.133-6885C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77604265 | |||||||
chr14:77604268 | C | T | 6 | a0001c0001t0001g0134 a0001c0001t0001g0140 a0001c0001t0001g0158 others(3): Show |
6 | HG02523.hp2 HG03654.hp2 NA18950.hp2 others(3): Show |
intron_variant | MODIFIER | c.133-6888G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77604268 | |||||||
chr14:77604490 | T | C | 3 | a0001c0001t0039g0100 a0001c0002t0005g0075 a0001c0002t0005g0076 |
3 | HG03486.hp1 NA18906.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.133-7110A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77604490 | |||||||
chr14:77604539 | G | C | 56 | a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0137 others(53): Show |
56 | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(53): Show |
intron_variant | MODIFIER | c.133-7159C>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77604539 | |||||||
chr14:77604585 | C | T | 3 | a0001c0001t0011g0105 a0001c0001t0011g0106 a0001c0002t0006g0108 |
3 | HG00642.hp2 HG00735.hp2 HG00741.hp1 |
intron_variant | MODIFIER | c.133-7205G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77604585 | |||||||
chr14:77604638 | C | T | 10 | a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0004g0016 others(7): Show |
10 | HG02559.hp2 HG02572.hp1 HG02615.hp1 others(7): Show |
intron_variant | MODIFIER | c.133-7258G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77604638 | |||||||
chr14:77604658 | A | G | 144 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0022 others(141): Show |
145 | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(142): Show |
intron_variant | MODIFIER | c.133-7278T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77604658 | |||||||
chr14:77604680 | C | T | 1 | a0001c0011t0041g0078 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.133-7300G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77604680 | |||||||
chr14:77604791 | T | C | 1 | a0001c0001t0001g0161 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.133-7411A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77604791 | |||||||
chr14:77604807 | C | T | 3 | a0001c0001t0008g0124 a0001c0001t0008g0125 a0001c0001t0008g0126 |
3 | NA18946.hp2 NA18953.hp2 NA19081.hp2 |
intron_variant | MODIFIER | c.133-7427G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77604807 | |||||||
chr14:77604836 | C | T | 11 | a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0004g0016 others(8): Show |
11 | HG02559.hp2 HG02572.hp1 HG02615.hp1 others(8): Show |
intron_variant | MODIFIER | c.133-7456G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77604836 | |||||||
chr14:77604844 | GC | G | 34 | a0001c0001t0001g0023 a0001c0001t0001g0067 a0001c0001t0001g0069 others(31): Show |
34 | HG00280.hp1 HG00438.hp2 HG00558.hp2 others(31): Show |
intron_variant | MODIFIER | c.133-7465delG | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77604844 | |||||||
chr14:77604866 | C | CA | 5 | a0001c0001t0001g0058 a0001c0001t0001g0091 a0001c0001t0001g0098 others(2): Show |
5 | HG01978.hp2 HG03516.hp1 HG03516.hp2 others(2): Show |
intron_variant | MODIFIER | c.133-7487dupT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77604866 | |||||||
chr14:77604866 | CA | C | 107 | a0001c0001t0001g0033 a0001c0001t0001g0107 a0001c0001t0001g0115 others(104): Show |
107 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(104): Show |
intron_variant | MODIFIER | c.133-7487delT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77604866 | |||||||
chr14:77604879 | A | AAAAAAAA others(4): Show |
2 | a0001c0002t0010g0065 a0001c0002t0010g0066 |
2 | HG01891.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.133-7500_133-7499i others(13): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77604879 | |||||||
chr14:77604879 | A | AAAAAAAA others(3): Show |
6 | a0001c0001t0046g0233 a0001c0001t0047g0231 a0001c0001t0048g0234 others(3): Show |
6 | HG01358.hp2 HG02559.hp1 HG03654.hp1 others(3): Show |
intron_variant | MODIFIER | c.133-7509_133-7500d others(12): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77604879 | |||||||
chr14:77604916 | G | A | 1 | a0001c0011t0041g0078 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.133-7536C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77604916 | |||||||
chr14:77605050 | T | C | 3 | a0001c0001t0039g0100 a0001c0002t0005g0075 a0001c0002t0005g0076 |
3 | HG03486.hp1 NA18906.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.133-7670A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77605050 | |||||||
chr14:77605163 | G | A | 1 | a0001c0001t0024g0220 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.133-7783C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77605163 | |||||||
chr14:77605180 | A | AT | 11 | a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0004g0016 others(8): Show |
11 | HG02559.hp2 HG02572.hp1 HG02615.hp1 others(8): Show |
intron_variant | MODIFIER | c.133-7801dupA | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77605180 | |||||||
chr14:77605450 | A | C | 102 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0022 others(99): Show |
103 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(100): Show |
intron_variant | MODIFIER | c.133-8070T>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77605450 | |||||||
chr14:77605687 | T | C | 1 | a0001c0011t0041g0078 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.133-8307A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77605687 | |||||||
chr14:77605787 | C | G | 101 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0022 others(98): Show |
102 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(99): Show |
intron_variant | MODIFIER | c.133-8407G>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77605787 | |||||||
chr14:77605848 | G | C | 91 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0022 others(88): Show |
92 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(89): Show |
intron_variant | MODIFIER | c.133-8468C>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77605848 | |||||||
chr14:77605863 | C | T | 91 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0022 others(88): Show |
92 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(89): Show |
intron_variant | MODIFIER | c.133-8483G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77605863 | |||||||
chr14:77605864 | G | A | 1 | a0001c0011t0041g0078 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.133-8484C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77605864 | |||||||
chr14:77605930 | T | C | 6 | a0001c0001t0046g0233 a0001c0001t0047g0231 a0001c0001t0048g0234 others(3): Show |
6 | HG01358.hp2 HG02559.hp1 HG03654.hp1 others(3): Show |
intron_variant | MODIFIER | c.133-8550A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77605930 | |||||||
chr14:77605958 | T | C | 1 | a0001c0001t0001g0129 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.133-8578A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77605958 | |||||||
chr14:77606017 | A | G | 11 | a0001c0001t0019g0245 a0001c0001t0050g0237 a0001c0002t0007g0236 others(8): Show |
11 | HG02109.hp2 HG02486.hp2 HG02630.hp1 others(8): Show |
intron_variant | MODIFIER | c.133-8637T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77606017 | |||||||
chr14:77606028 | A | G | 92 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0022 others(89): Show |
93 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(90): Show |
intron_variant | MODIFIER | c.133-8648T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77606028 | |||||||
chr14:77606105 | G | A | 1 | a0001c0002t0002g0204 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.133-8725C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77606105 | |||||||
chr14:77606112 | A | G | 1 | a0001c0001t0025g0019 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.133-8732T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77606112 | |||||||
chr14:77606285 | G | A | 2 | a0001c0001t0003g0184 a0001c0001t0003g0185 |
2 | HG03471.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.133-8905C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77606285 | |||||||
chr14:77606286 | C | T | 1 | a0001c0001t0019g0245 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.133-8906G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77606286 | |||||||
chr14:77606335 | AAAC | A | 11 | a0001c0001t0019g0245 a0001c0001t0050g0237 a0001c0002t0007g0236 others(8): Show |
11 | HG02109.hp2 HG02486.hp2 HG02630.hp1 others(8): Show |
intron_variant | MODIFIER | c.133-8958_133-8956d others(5): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77606335 | |||||||
chr14:77606373 | C | CTG | 21 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0023 others(18): Show |
21 | HG00735.hp1 HG00738.hp1 HG01069.hp1 others(18): Show |
intron_variant | MODIFIER | c.133-8995_133-8994d others(4): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77606373 | |||||||
chr14:77606373 | C | CTGTG | 53 | a0001c0001t0001g0129 a0001c0001t0001g0134 a0001c0001t0001g0137 others(50): Show |
53 | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(50): Show |
intron_variant | MODIFIER | c.133-8997_133-8994d others(6): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77606373 | |||||||
chr14:77606373 | C | CTGTGTG | 22 | a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0119 others(19): Show |
22 | HG00323.hp2 HG00408.hp1 HG00741.hp1 others(19): Show |
intron_variant | MODIFIER | c.133-8999_133-8994d others(8): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77606373 | |||||||
chr14:77606373 | C | CTGTGTGT others(1): Show |
3 | a0001c0001t0024g0220 a0001c0001t0035g0122 a0001c0002t0001g0103 |
3 | HG01934.hp2 HG02071.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.133-9001_133-8994d others(10): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77606373 | |||||||
chr14:77606373 | C | CTGTGTGT others(3): Show |
6 | a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0003g0218 others(3): Show |
6 | HG00280.hp2 HG00642.hp2 HG00733.hp1 others(3): Show |
intron_variant | MODIFIER | c.133-9003_133-8994d others(12): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77606373 | |||||||
chr14:77606373 | C | CTGTGTGT others(5): Show |
3 | a0001c0001t0008g0124 a0001c0001t0008g0126 a0001c0001t0011g0105 |
3 | HG00735.hp2 NA18946.hp2 NA19081.hp2 |
intron_variant | MODIFIER | c.133-9005_133-8994d others(14): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77606373 | |||||||
chr14:77606373 | C | CTGTGTGT others(7): Show |
4 | a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0002t0020g0002 others(1): Show |
4 | HG03139.hp2 HG03195.hp2 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.133-9007_133-8994d others(16): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77606373 | |||||||
chr14:77606373 | C | CTGTGTGT others(9): Show |
3 | a0001c0002t0005g0187 a0001c0002t0005g0188 a0001c0002t0029g0186 |
3 | HG02572.hp1 HG02615.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.133-9009_133-8994d others(18): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77606373 | |||||||
chr14:77606373 | CTG | C | 69 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0022 others(66): Show |
70 | HG00323.hp1 HG00438.hp1 HG00642.hp1 others(67): Show |
intron_variant | MODIFIER | c.133-8995_133-8994d others(4): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77606373 | |||||||
chr14:77606450 | C | T | 6 | a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0002t0005g0187 others(3): Show |
6 | HG02572.hp1 HG02615.hp1 HG03195.hp2 others(3): Show |
intron_variant | MODIFIER | c.133-9070G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77606450 | |||||||
chr14:77606779 | G | A | 1 | a0001c0001t0001g0157 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.133-9399C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77606779 | |||||||
chr14:77606987 | C | CA | 5 | a0001c0001t0001g0158 a0001c0001t0003g0189 a0001c0001t0024g0220 others(2): Show |
5 | HG01891.hp1 HG02523.hp2 HG02818.hp2 others(2): Show |
intron_variant | MODIFIER | c.132+9460dupT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77606987 | |||||||
chr14:77607071 | TTTTG | T | 8 | a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0026g0159 others(5): Show |
8 | HG02145.hp1 HG02145.hp2 HG02572.hp1 others(5): Show |
intron_variant | MODIFIER | c.132+9373_132+9376d others(6): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77607071 | |||||||
chr14:77607119 | A | G | 102 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0022 others(99): Show |
103 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(100): Show |
intron_variant | MODIFIER | c.132+9329T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77607119 | |||||||
chr14:77607192 | A | G | 12 | a0001c0001t0004g0110 a0001c0001t0011g0105 a0001c0001t0011g0106 others(9): Show |
12 | HG00323.hp2 HG00642.hp2 HG00735.hp2 others(9): Show |
intron_variant | MODIFIER | c.132+9256T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77607192 | |||||||
chr14:77607296 | TG | T | 15 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0229 others(12): Show |
15 | HG00735.hp1 HG00738.hp1 HG01069.hp1 others(12): Show |
intron_variant | MODIFIER | c.132+9151delC | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77607296 | |||||||
chr14:77607556 | T | C | 1 | a0001c0001t0005g0127 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.132+8892A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77607556 | |||||||
chr14:77607556 | T | G | 1 | a0001c0011t0041g0078 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.132+8892A>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77607556 | |||||||
chr14:77607673 | A | G | 1 | a0001c0001t0001g0080 | 1 | NA19087.hp2 | intron_variant | MODIFIER | c.132+8775T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77607673 | |||||||
chr14:77607916 | C | T | 1 | a0001c0001t0024g0220 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.132+8532G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77607916 | |||||||
chr14:77608025 | C | T | 4 | a0001c0002t0005g0187 a0001c0002t0005g0188 a0001c0002t0020g0002 others(1): Show |
4 | HG02572.hp1 HG02615.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.132+8423G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77608025 | |||||||
chr14:77608115 | G | C | 6 | a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0002t0005g0187 others(3): Show |
6 | HG02572.hp1 HG02615.hp1 HG03195.hp2 others(3): Show |
intron_variant | MODIFIER | c.132+8333C>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77608115 | |||||||
chr14:77608241 | A | G | 93 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0022 others(90): Show |
94 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(91): Show |
intron_variant | MODIFIER | c.132+8207T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77608241 | |||||||
chr14:77608274 | C | T | 209 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(206): Show |
210 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(207): Show |
intron_variant | MODIFIER | c.132+8174G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77608274 | |||||||
chr14:77608463 | T | C | 24 | a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0119 others(21): Show |
24 | HG00323.hp2 HG00408.hp1 HG00642.hp2 others(21): Show |
intron_variant | MODIFIER | c.132+7985A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77608463 | |||||||
chr14:77608597 | G | A | 24 | a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0119 others(21): Show |
24 | HG00323.hp2 HG00408.hp1 HG00642.hp2 others(21): Show |
intron_variant | MODIFIER | c.132+7851C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77608597 | |||||||
chr14:77608709 | G | A | 55 | a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0137 others(52): Show |
55 | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(52): Show |
intron_variant | MODIFIER | c.132+7739C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77608709 | |||||||
chr14:77608716 | ACT | A | 4 | a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0013 others(1): Show |
4 | HG02451.hp2 HG02572.hp2 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.132+7730_132+7731d others(4): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77608716 | |||||||
chr14:77608827 | G | A | 1 | a0001c0001t0035g0122 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.132+7621C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77608827 | |||||||
chr14:77608850 | G | A | 53 | a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0137 others(50): Show |
53 | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(50): Show |
intron_variant | MODIFIER | c.132+7598C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77608850 | |||||||
chr14:77608862 | G | A | 2 | a0001c0002t0005g0075 a0001c0002t0005g0076 |
2 | HG03486.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.132+7586C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77608862 | |||||||
chr14:77608866 | C | A | 1 | a0001c0001t0003g0189 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.132+7582G>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77608866 | |||||||
chr14:77608867 | G | A | 5 | a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0013 others(2): Show |
5 | HG02451.hp2 HG02572.hp2 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.132+7581C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77608867 | |||||||
chr14:77608873 | A | G | 102 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0022 others(99): Show |
103 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(100): Show |
intron_variant | MODIFIER | c.132+7575T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77608873 | |||||||
chr14:77608880 | T | C | 1 | a0001c0011t0041g0078 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.132+7568A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77608880 | |||||||
chr14:77608919 | A | AAAT | 52 | a0001c0001t0001g0018 a0001c0001t0001g0048 a0001c0001t0001g0050 others(49): Show |
52 | HG00621.hp2 HG00642.hp2 HG00733.hp2 others(49): Show |
intron_variant | MODIFIER | c.132+7526_132+7528d others(5): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77608919 | |||||||
chr14:77608919 | A | AAATAAT | 74 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(71): Show |
75 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(72): Show |
intron_variant | MODIFIER | c.132+7523_132+7528d others(8): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77608919 | |||||||
chr14:77608919 | A | AAATAATA others(2): Show |
13 | a0001c0001t0001g0024 a0001c0001t0001g0054 a0001c0001t0001g0133 others(10): Show |
13 | HG00408.hp2 HG00642.hp1 HG01243.hp2 others(10): Show |
intron_variant | MODIFIER | c.132+7520_132+7528d others(11): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77608919 | |||||||
chr14:77608919 | A | AAATAATA others(5): Show |
1 | a0001c0001t0001g0030 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.132+7517_132+7528d others(14): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77608919 | |||||||
chr14:77608919 | A | AAATAATA others(8): Show |
1 | a0001c0001t0003g0226 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.132+7514_132+7528d others(17): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77608919 | |||||||
chr14:77608919 | A | AAATAATA others(11): Show |
1 | a0001c0003t0023g0132 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.132+7511_132+7528d others(20): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77608919 | |||||||
chr14:77608919 | AAAT | A | 29 | a0001c0001t0001g0052 a0001c0001t0001g0115 a0001c0001t0001g0119 others(26): Show |
29 | HG00323.hp2 HG00408.hp1 HG00741.hp1 others(26): Show |
intron_variant | MODIFIER | c.132+7526_132+7528d others(5): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77608919 | |||||||
chr14:77608919 | AAATAAT | A | 4 | a0001c0001t0001g0229 a0001c0001t0004g0228 a0001c0001t0005g0127 others(1): Show |
4 | HG01884.hp2 HG02559.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.132+7523_132+7528d others(8): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77608919 | |||||||
chr14:77608919 | AAATAATA others(2): Show |
A | 8 | a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0024g0220 others(5): Show |
8 | HG02572.hp1 HG02615.hp1 HG02976.hp2 others(5): Show |
intron_variant | MODIFIER | c.132+7520_132+7528d others(11): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77608919 | |||||||
chr14:77608919 | AAATAATA others(8): Show |
A | 8 | a0001c0002t0005g0075 a0001c0002t0005g0076 a0001c0002t0006g0123 others(5): Show |
8 | HG02451.hp2 HG02572.hp2 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.132+7514_132+7528d others(17): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77608919 | |||||||
chr14:77609157 | G | T | 5 | a0001c0001t0046g0233 a0001c0001t0047g0231 a0001c0001t0048g0234 others(2): Show |
5 | HG01358.hp2 HG03654.hp1 HG03710.hp1 others(2): Show |
intron_variant | MODIFIER | c.132+7291C>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77609157 | |||||||
chr14:77609177 | C | T | 2 | a0001c0001t0001g0079 a0001c0001t0001g0086 |
2 | HG00438.hp2 NA19000.hp1 |
intron_variant | MODIFIER | c.132+7271G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77609177 | |||||||
chr14:77609284 | T | C | 6 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0004g0005 others(3): Show |
6 | HG00735.hp1 HG00738.hp1 HG01069.hp1 others(3): Show |
intron_variant | MODIFIER | c.132+7164A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77609284 | |||||||
chr14:77609452 | T | C | 143 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0022 others(140): Show |
144 | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(141): Show |
intron_variant | MODIFIER | c.132+6996A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77609452 | |||||||
chr14:77609455 | G | T | 107 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0022 others(104): Show |
108 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(105): Show |
intron_variant | MODIFIER | c.132+6993C>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77609455 | |||||||
chr14:77609470 | T | C | 1 | a0001c0011t0041g0078 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.132+6978A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77609470 | |||||||
chr14:77609500 | T | G | 143 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0022 others(140): Show |
144 | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(141): Show |
intron_variant | MODIFIER | c.132+6948A>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77609500 | |||||||
chr14:77609536 | G | A | 1 | a0001c0011t0041g0078 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.132+6912C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77609536 | |||||||
chr14:77609543 | C | A | 35 | a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0024 others(32): Show |
36 | HG00438.hp1 HG00642.hp1 HG01071.hp1 others(33): Show |
intron_variant | MODIFIER | c.132+6905G>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77609543 | |||||||
chr14:77609607 | T | A | 22 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0129 others(19): Show |
22 | HG00280.hp2 HG00733.hp1 HG00735.hp1 others(19): Show |
intron_variant | MODIFIER | c.132+6841A>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77609607 | |||||||
chr14:77609610 | G | A | 107 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0022 others(104): Show |
108 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(105): Show |
intron_variant | MODIFIER | c.132+6838C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77609610 | |||||||
chr14:77609637 | G | A | 1 | a0001c0001t0005g0127 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.132+6811C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77609637 | |||||||
chr14:77609804 | T | C | 23 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0129 others(20): Show |
23 | HG00280.hp2 HG00733.hp1 HG00735.hp1 others(20): Show |
intron_variant | MODIFIER | c.132+6644A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77609804 | |||||||
chr14:77609956 | G | A | 1 | a0001c0001t0001g0054 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.132+6492C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77609956 | |||||||
chr14:77609980 | G | A | 1 | a0001c0001t0001g0023 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.132+6468C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77609980 | |||||||
chr14:77610046 | C | CAGGATTC others(331): Show |
1 | a0001c0002t0005g0188 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.132+6401_132+6402i others(340): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77610046 | |||||||
chr14:77610068 | C | T | 2 | a0001c0001t0009g0084 a0001c0001t0009g0085 |
2 | NA18995.hp1 NA19010.hp1 |
intron_variant | MODIFIER | c.132+6380G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77610068 | |||||||
chr14:77610125 | G | C | 2 | a0001c0002t0005g0075 a0001c0002t0005g0076 |
2 | HG03486.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.132+6323C>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77610125 | |||||||
chr14:77610137 | G | GGTTTT | 69 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0107 others(66): Show |
69 | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(66): Show |
intron_variant | MODIFIER | c.132+6306_132+6310d others(7): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77610137 | |||||||
chr14:77610137 | GGTTTT | G | 96 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0022 others(93): Show |
97 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(94): Show |
intron_variant | MODIFIER | c.132+6306_132+6310d others(7): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77610137 | |||||||
chr14:77610179 | C | T | 1 | a0001c0011t0041g0078 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.132+6269G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77610179 | |||||||
chr14:77610255 | C | G | 6 | a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0002t0005g0187 others(3): Show |
6 | HG02572.hp1 HG02615.hp1 HG03195.hp2 others(3): Show |
intron_variant | MODIFIER | c.132+6193G>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77610255 | |||||||
chr14:77610331 | G | A | 5 | a0001c0001t0046g0233 a0001c0001t0047g0231 a0001c0001t0048g0234 others(2): Show |
5 | HG01358.hp2 HG03654.hp1 HG03710.hp1 others(2): Show |
intron_variant | MODIFIER | c.132+6117C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77610331 | |||||||
chr14:77610408 | C | T | 1 | a0001c0001t0036g0083 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.132+6040G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77610408 | |||||||
chr14:77610424 | G | T | 1 | a0001c0004t0004g0190 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.132+6024C>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77610424 | |||||||
chr14:77610488 | G | A | 1 | a0001c0001t0005g0181 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.132+5960C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77610488 | |||||||
chr14:77610641 | C | T | 6 | a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0002t0005g0187 others(3): Show |
6 | HG02572.hp1 HG02615.hp1 HG03195.hp2 others(3): Show |
intron_variant | MODIFIER | c.132+5807G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77610641 | |||||||
chr14:77610653 | T | G | 5 | a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0013 others(2): Show |
5 | HG02451.hp2 HG02572.hp2 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.132+5795A>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77610653 | |||||||
chr14:77610698 | T | C | 24 | a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0119 others(21): Show |
24 | HG00323.hp2 HG00408.hp1 HG00642.hp2 others(21): Show |
intron_variant | MODIFIER | c.132+5750A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77610698 | |||||||
chr14:77610706 | C | T | 2 | a0001c0001t0001g0082 a0001c0001t0001g0102 |
2 | NA18950.hp1 NA18968.hp1 |
intron_variant | MODIFIER | c.132+5742G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77610706 | |||||||
chr14:77610774 | G | A | 22 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0129 others(19): Show |
22 | HG00280.hp2 HG00733.hp1 HG00735.hp1 others(19): Show |
intron_variant | MODIFIER | c.132+5674C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77610774 | |||||||
chr14:77610868 | A | G | 2 | a0001c0002t0010g0065 a0001c0002t0010g0066 |
2 | HG01891.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.132+5580T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77610868 | |||||||
chr14:77610915 | A | AT | 45 | a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0137 others(42): Show |
45 | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(42): Show |
intron_variant | MODIFIER | c.132+5532dupA | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77610915 | |||||||
chr14:77610917 | A | AT | 10 | a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0005g0175 others(7): Show |
10 | HG01167.hp2 HG01496.hp2 HG02293.hp2 others(7): Show |
intron_variant | MODIFIER | c.132+5530dupA | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77610917 | |||||||
chr14:77610917 | A | T | 78 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0129 others(75): Show |
78 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(75): Show |
intron_variant | MODIFIER | c.132+5531T>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77610917 | |||||||
chr14:77610992 | C | CA | 77 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0022 others(74): Show |
78 | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(75): Show |
intron_variant | MODIFIER | c.132+5455dupT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77610992 | |||||||
chr14:77610992 | C | CAA | 62 | a0001c0001t0001g0023 a0001c0001t0001g0056 a0001c0001t0001g0057 others(59): Show |
62 | HG00280.hp1 HG00438.hp2 HG00558.hp2 others(59): Show |
intron_variant | MODIFIER | c.132+5454_132+5455d others(4): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77610992 | |||||||
chr14:77610992 | CAA | C | 20 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0129 others(17): Show |
20 | HG00280.hp2 HG00733.hp1 HG00735.hp1 others(17): Show |
intron_variant | MODIFIER | c.132+5454_132+5455d others(4): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77610992 | |||||||
chr14:77610992 | CAAA | C | 55 | a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0137 others(52): Show |
55 | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(52): Show |
intron_variant | MODIFIER | c.132+5453_132+5455d others(5): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77610992 | |||||||
chr14:77611137 | C | CAA | 104 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0022 others(101): Show |
105 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(102): Show |
intron_variant | MODIFIER | c.132+5309_132+5310d others(4): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77611137 | |||||||
chr14:77611137 | C | CAAA | 5 | a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0079 others(2): Show |
5 | HG01099.hp1 HG01358.hp1 HG01993.hp2 others(2): Show |
intron_variant | MODIFIER | c.132+5308_132+5310d others(5): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77611137 | |||||||
chr14:77611137 | C | CAAAA | 27 | a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0119 others(24): Show |
27 | HG00323.hp2 HG00408.hp1 HG00642.hp2 others(24): Show |
intron_variant | MODIFIER | c.132+5307_132+5310d others(6): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77611137 | |||||||
chr14:77611174 | G | A | 1 | a0001c0001t0005g0182 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.132+5274C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77611174 | |||||||
chr14:77611240 | T | C | 4 | a0001c0001t0046g0233 a0001c0001t0047g0231 a0001c0001t0048g0234 others(1): Show |
4 | HG01358.hp2 HG03654.hp1 HG03710.hp1 others(1): Show |
intron_variant | MODIFIER | c.132+5208A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77611240 | |||||||
chr14:77611296 | C | T | 2 | a0001c0001t0001g0024 a0001c0001t0001g0133 |
2 | HG02738.hp2 HG02895.hp2 |
intron_variant | MODIFIER | c.132+5152G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77611296 | |||||||
chr14:77611325 | T | C | 1 | a0001c0006t0018g0074 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.132+5123A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77611325 | |||||||
chr14:77611367 | A | G | 107 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0022 others(104): Show |
108 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(105): Show |
intron_variant | MODIFIER | c.132+5081T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77611367 | |||||||
chr14:77611377 | C | T | 5 | a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0013 others(2): Show |
5 | HG02451.hp2 HG02572.hp2 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.132+5071G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77611377 | |||||||
chr14:77611388 | G | A | 1 | a0001c0011t0041g0078 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.132+5060C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77611388 | |||||||
chr14:77611416 | C | T | 2 | a0001c0002t0005g0075 a0001c0002t0005g0076 |
2 | HG03486.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.132+5032G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77611416 | |||||||
chr14:77611458 | C | CA | 46 | a0001c0001t0001g0010 a0001c0001t0001g0023 a0001c0001t0001g0067 others(43): Show |
46 | HG00280.hp1 HG00438.hp2 HG00558.hp2 others(43): Show |
intron_variant | MODIFIER | c.132+4989dupT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77611458 | |||||||
chr14:77611458 | C | CAA | 63 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0024 others(60): Show |
64 | HG00438.hp1 HG00642.hp1 HG01071.hp1 others(61): Show |
intron_variant | MODIFIER | c.132+4988_132+4989d others(4): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77611458 | |||||||
chr14:77611458 | CA | C | 83 | a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0119 others(80): Show |
83 | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(80): Show |
intron_variant | MODIFIER | c.132+4989delT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77611458 | |||||||
chr14:77611653 | T | C | 1 | a0001c0001t0001g0215 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.132+4795A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77611653 | |||||||
chr14:77611687 | G | A | 1 | a0001c0001t0001g0018 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.132+4761C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77611687 | |||||||
chr14:77611757 | T | C | 198 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0022 others(195): Show |
199 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(196): Show |
intron_variant | MODIFIER | c.132+4691A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77611757 | |||||||
chr14:77611820 | C | T | 104 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0022 others(101): Show |
105 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(102): Show |
intron_variant | MODIFIER | c.132+4628G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77611820 | |||||||
chr14:77611825 | C | CA | 58 | a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0139 others(55): Show |
58 | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(55): Show |
intron_variant | MODIFIER | c.132+4622dupT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77611825 | |||||||
chr14:77611825 | CA | C | 5 | a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0013 others(2): Show |
5 | HG02451.hp2 HG02572.hp2 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.132+4622delT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77611825 | |||||||
chr14:77611845 | G | A | 1 | a0001c0001t0014g0099 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.132+4603C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77611845 | |||||||
chr14:77611860 | A | C | 1 | a0001c0011t0041g0078 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.132+4588T>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77611860 | |||||||
chr14:77611863 | T | C | 143 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0022 others(140): Show |
144 | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(141): Show |
intron_variant | MODIFIER | c.132+4585A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77611863 | |||||||
chr14:77611923 | T | TA | 6 | a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0002t0005g0187 others(3): Show |
6 | HG02572.hp1 HG02615.hp1 HG03195.hp2 others(3): Show |
intron_variant | MODIFIER | c.132+4524dupT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77611923 | |||||||
chr14:77612199 | A | G | 77 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0022 others(74): Show |
78 | HG00438.hp1 HG00438.hp2 HG00558.hp2 others(75): Show |
intron_variant | MODIFIER | c.132+4249T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77612199 | |||||||
chr14:77612356 | G | A | 1 | a0001c0001t0039g0100 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.132+4092C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77612356 | |||||||
chr14:77612412 | T | C | 220 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(217): Show |
221 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(218): Show |
intron_variant | MODIFIER | c.132+4036A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77612412 | |||||||
chr14:77612416 | A | G | 55 | a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0137 others(52): Show |
55 | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(52): Show |
intron_variant | MODIFIER | c.132+4032T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77612416 | |||||||
chr14:77612640 | T | C | 1 | a0001c0001t0019g0245 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.132+3808A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77612640 | |||||||
chr14:77612939 | A | C | 1 | a0001c0001t0001g0079 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.132+3509T>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77612939 | |||||||
chr14:77612943 | CT | C | 4 | a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0013 others(1): Show |
4 | HG02451.hp2 HG02572.hp2 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.132+3504delA | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77612943 | |||||||
chr14:77613052 | A | G | 165 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(162): Show |
166 | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(163): Show |
intron_variant | MODIFIER | c.132+3396T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77613052 | |||||||
chr14:77613070 | CACAA | C | 108 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0022 others(105): Show |
109 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(106): Show |
intron_variant | MODIFIER | c.132+3374_132+3377d others(6): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77613070 | |||||||
chr14:77613371 | T | C | 1 | a0001c0001t0025g0019 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.132+3077A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77613371 | |||||||
chr14:77613389 | C | T | 1 | a0001c0003t0023g0132 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.132+3059G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77613389 | |||||||
chr14:77613431 | G | T | 1 | a0001c0001t0014g0131 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.132+3017C>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77613431 | |||||||
chr14:77613496 | T | C | 1 | a0001c0001t0001g0072 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.132+2952A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77613496 | |||||||
chr14:77613501 | T | C | 1 | a0001c0004t0004g0190 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.132+2947A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77613501 | |||||||
chr14:77613550 | A | G | 1 | a0001c0003t0001g0021 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.132+2898T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77613550 | |||||||
chr14:77613788 | C | G | 55 | a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0137 others(52): Show |
55 | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(52): Show |
intron_variant | MODIFIER | c.132+2660G>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77613788 | |||||||
chr14:77613804 | A | G | 1 | a0001c0001t0003g0189 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.132+2644T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77613804 | |||||||
chr14:77613845 | T | TAAAAATG others(318): Show |
1 | a0001c0001t0005g0073 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.132+2602_132+2603i others(327): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77613845 | |||||||
chr14:77613967 | G | A | 4 | a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0013 others(1): Show |
4 | HG02451.hp2 HG02572.hp2 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.132+2481C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77613967 | |||||||
chr14:77614263 | G | C | 1 | a0001c0004t0004g0190 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.132+2185C>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77614263 | |||||||
chr14:77614325 | A | C | 108 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0022 others(105): Show |
109 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(106): Show |
intron_variant | MODIFIER | c.132+2123T>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77614325 | |||||||
chr14:77614381 | C | A | 3 | a0001c0001t0008g0124 a0001c0001t0008g0125 a0001c0001t0008g0126 |
3 | NA18946.hp2 NA18953.hp2 NA19081.hp2 |
intron_variant | MODIFIER | c.132+2067G>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77614381 | |||||||
chr14:77614382 | C | T | 1 | a0001c0001t0015g0130 | 1 | NA18995.hp2 | intron_variant | MODIFIER | c.132+2066G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77614382 | |||||||
chr14:77614401 | ACACC | A | 24 | a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0119 others(21): Show |
24 | HG00323.hp2 HG00408.hp1 HG00642.hp2 others(21): Show |
intron_variant | MODIFIER | c.132+2043_132+2046d others(6): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77614401 | |||||||
chr14:77614403 | A | G | 108 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0022 others(105): Show |
109 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(106): Show |
intron_variant | MODIFIER | c.132+2045T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77614403 | |||||||
chr14:77614406 | C | T | 196 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(193): Show |
197 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(194): Show |
intron_variant | MODIFIER | c.132+2042G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77614406 | |||||||
chr14:77614440 | G | A | 108 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0022 others(105): Show |
109 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(106): Show |
intron_variant | MODIFIER | c.132+2008C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77614440 | |||||||
chr14:77614447 | G | A | 1 | a0001c0001t0003g0189 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.132+2001C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77614447 | |||||||
chr14:77614461 | A | G | 220 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(217): Show |
221 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(218): Show |
intron_variant | MODIFIER | c.132+1987T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77614461 | |||||||
chr14:77614489 | C | A | 89 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0022 others(86): Show |
90 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(87): Show |
intron_variant | MODIFIER | c.132+1959G>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77614489 | |||||||
chr14:77614502 | A | C | 105 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0022 others(102): Show |
106 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(103): Show |
intron_variant | MODIFIER | c.132+1946T>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77614502 | |||||||
chr14:77614521 | G | A | 1 | a0001c0001t0001g0101 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.132+1927C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77614521 | |||||||
chr14:77614613 | G | C | 1 | a0001c0011t0041g0078 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.132+1835C>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77614613 | |||||||
chr14:77614663 | C | CA | 106 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0022 others(103): Show |
107 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(104): Show |
intron_variant | MODIFIER | c.132+1784dupT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77614663 | |||||||
chr14:77614673 | C | A | 1 | a0001c0006t0018g0074 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.132+1775G>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77614673 | |||||||
chr14:77614709 | G | A | 1 | a0001c0004t0004g0190 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.132+1739C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77614709 | |||||||
chr14:77614727 | T | C | 1 | a0001c0001t0001g0191 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.132+1721A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77614727 | |||||||
chr14:77614871 | TG | T | 6 | a0001c0001t0001g0129 a0001c0001t0001g0216 a0001c0001t0001g0217 others(3): Show |
6 | HG00280.hp2 HG00733.hp1 HG01515.hp2 others(3): Show |
intron_variant | MODIFIER | c.132+1576delC | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77614871 | |||||||
chr14:77614959 | A | G | 206 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(203): Show |
207 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(204): Show |
intron_variant | MODIFIER | c.132+1489T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77614959 | |||||||
chr14:77614969 | G | GA | 38 | a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 others(35): Show |
38 | HG00438.hp2 HG00558.hp2 HG00621.hp1 others(35): Show |
intron_variant | MODIFIER | c.132+1478dupT | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77614969 | |||||||
chr14:77614975 | A | C | 5 | a0001c0001t0046g0233 a0001c0001t0047g0231 a0001c0001t0048g0234 others(2): Show |
5 | HG01358.hp2 HG03654.hp1 HG03710.hp1 others(2): Show |
intron_variant | MODIFIER | c.132+1473T>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77614975 | |||||||
chr14:77614975 | A | G | 4 | a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0013 others(1): Show |
4 | HG02451.hp2 HG02572.hp2 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.132+1473T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77614975 | |||||||
chr14:77614976 | A | C | 6 | a0001c0001t0001g0018 a0001c0001t0003g0014 a0001c0001t0003g0015 others(3): Show |
6 | HG02559.hp2 HG02809.hp2 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.132+1472T>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77614976 | |||||||
chr14:77614993 | C | A | 1 | a0001c0001t0001g0102 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.132+1455G>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77614993 | |||||||
chr14:77615126 | C | A | 5 | a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0003g0218 others(2): Show |
5 | HG00280.hp2 HG00733.hp1 HG01515.hp2 others(2): Show |
intron_variant | MODIFIER | c.132+1322G>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77615126 | |||||||
chr14:77615144 | A | G | 11 | a0001c0001t0019g0245 a0001c0001t0050g0237 a0001c0002t0007g0236 others(8): Show |
11 | HG02109.hp2 HG02486.hp2 HG02630.hp1 others(8): Show |
intron_variant | MODIFIER | c.132+1304T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77615144 | |||||||
chr14:77615247 | C | G | 1 | a0001c0001t0004g0228 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.132+1201G>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77615247 | |||||||
chr14:77615719 | A | G | 1 | a0001c0001t0021g0003 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.132+729T>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77615719 | |||||||
chr14:77615767 | T | C | 24 | a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0119 others(21): Show |
24 | HG00323.hp2 HG00408.hp1 HG00642.hp2 others(21): Show |
intron_variant | MODIFIER | c.132+681A>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77615767 | |||||||
chr14:77615911 | C | A | 15 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0229 others(12): Show |
15 | HG00735.hp1 HG00738.hp1 HG01069.hp1 others(12): Show |
intron_variant | MODIFIER | c.132+537G>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77615911 | |||||||
chr14:77615960 | G | A | 2 | a0001c0001t0001g0229 a0001c0001t0004g0228 |
2 | HG04228.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.132+488C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77615960 | |||||||
chr14:77616088 | G | A | 1 | a0001c0001t0005g0127 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.132+360C>T | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77616088 | |||||||
chr14:77616095 | C | T | 4 | a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0013 others(1): Show |
4 | HG02451.hp2 HG02572.hp2 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.132+353G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77616095 | |||||||
chr14:77616096 | C | G | 131 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0022 others(128): Show |
132 | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(129): Show |
intron_variant | MODIFIER | c.132+352G>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77616096 | |||||||
chr14:77616211 | AACCCAGA others(14): Show |
A | 1 | a0001c0010t0004g0230 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.132+216_132+236del others(21): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77616211 | |||||||
chr14:77616222 | C | G | 1 | a0001c0004t0004g0183 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.132+226G>C | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77616222 | |||||||
chr14:77616302 | C | T | 6 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0004g0005 others(3): Show |
6 | HG00735.hp1 HG00738.hp1 HG01069.hp1 others(3): Show |
intron_variant | MODIFIER | c.132+146G>A | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77616302 | |||||||
chr14:77616304 | G | C | 1 | a0001c0001t0019g0245 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.132+144C>G | SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | 77616304 |