view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | 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 | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MED12L_chr3_151080664_151441653 | 151430755 | T | TCCCGAAG others(6074): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0191 | 1 | 126 | 0.0079 | 6081 | c.649 others(6098): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MINDY4_chr7_30766417_30897387 | 30774576 | T | TTCTCGAA others(6074): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0008 | a0008c0008 | a0008c0008t0001 | a0008c0008t0001g0254 | 1 | 291 | 0.0034 | 6081 | c.63+ others(6096): Show |
MINDY4 | ENSG00000106125.14 | transcript | ENST00000265299.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151430755 | T | TCCCGAAG others(6075): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0007 | a0001c0007t0009 | a0001c0007t0009g0035 | 1 | 126 | 0.0079 | 6082 | c.649 others(6099): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MINDY4_chr7_30766417_30897387 | 30774576 | T | TTCTCGAA others(6075): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 NA18906.hp2 |
a0008 | a0008c0008 | a0008c0008t0001a0008c0008t0003 | a0008c0008t0001g0255 a0008c0008t0001g0256 a0008c0008t0003g0257 |
3 | 293 | 0.0102 | 6082 | c.63+ others(6097): Show |
MINDY4 | ENSG00000106125.14 | transcript | ENST00000265299.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(6075): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0071 | 1 | 34 | 0.0294 | 6082 | c.299 others(6097): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
ZNF622_chr5_16446519_16470800 | 16464186 | T | TGAAACTT others(6075): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 390 | 0.0026 | 6082 | c.626 others(6097): Show |
ZNF622 | ENSG00000173545.5 | transcript | ENST00000308683.3 | protein_coding | 1/5 | chr5 | TogoVar | |||||||
MAP3K9_chr14_70717526_70814513 | 70731059 | T | TAAGAATA others(6076): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0002 | a0001c0002t0023 | a0001c0002t0023g0106 | 1 | 318 | 0.0031 | 6083 | c.283 others(6100): Show |
MAP3K9 | ENSG00000006432.16 | transcript | ENST00000554752.7 | protein_coding | 11/11 | chr14 | TogoVar | |||||||
MINDY4_chr7_30766417_30897387 | 30774576 | T | TTCTCGAA others(6076): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0022 | a0022c0049 | a0022c0049t0001 | a0022c0049t0001g0022 | 1 | 291 | 0.0034 | 6083 | c.63+ others(6098): Show |
MINDY4 | ENSG00000106125.14 | transcript | ENST00000265299.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 132812407 | C | CAAAGAAA others(6076): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0028a0001c0001t0031 | a0001c0001t0028g0059 a0001c0001t0031g0062 |
2 | 65 | 0.0308 | 6083 | c.146 others(6104): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 2/7 | chr11 | TogoVar | |||||||
RBFOX2_chr22_35733736_36033824 | 35735298 | T | TCCACCTG others(6076): Show |
downstream_gene_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0009 | 1 | 23 | 0.0435 | 6083 | c.*89 others(6094): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3437 | chr22 | TogoVar | |||||||
TTC28_chr22_27973014_28684840 | 28059913 | C | CTACCCAT others(6076): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0015 | a0001c0015t0002 | a0001c0015t0002g0169 | 1 | 178 | 0.0056 | 6083 | c.393 others(6104): Show |
TTC28 | ENSG00000100154.15 | transcript | ENST00000397906.7 | protein_coding | 12/22 | chr22 | TogoVar | |||||||
ETV1_chr7_13886229_13994666 | 13925862 | A | ATTTTTTT others(6077): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0110 | 1 | 314 | 0.0032 | 6084 | c.802 others(6101): Show |
ETV1 | ENSG00000006468.15 | transcript | ENST00000430479.6 | protein_coding | 9/13 | chr7 | TogoVar | |||||||
MAP3K9_chr14_70717526_70814513 | 70731059 | T | TAAGAATA others(6077): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01167.hp2 HG01168.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0008 | a0001c0002t0001g0007 a0001c0002t0001g0107 a0001c0002t0008g0119 |
4 | 321 | 0.0125 | 6084 | c.283 others(6101): Show |
MAP3K9 | ENSG00000006432.16 | transcript | ENST00000554752.7 | protein_coding | 11/11 | chr14 | TogoVar | |||||||
MAP3K9_chr14_70717526_70814513 | 70731059 | T | TAAGAATA others(6077): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0116 | 1 | 318 | 0.0031 | 6084 | c.283 others(6101): Show |
MAP3K9 | ENSG00000006432.16 | transcript | ENST00000554752.7 | protein_coding | 11/11 | chr14 | TogoVar | |||||||
MINDY4_chr7_30766417_30897387 | 30774576 | T | TTCTCGAA others(6077): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0008 | a0008c0008 | a0008c0008t0001 | a0008c0008t0001g0184 | 1 | 291 | 0.0034 | 6084 | c.63+ others(6099): Show |
MINDY4 | ENSG00000106125.14 | transcript | ENST00000265299.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1223229 | C | GTGGAGGT others(6077): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 187 | 0.0053 | 6084 | c.719 others(6103): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | chr2 | TogoVar | |||||||
SNTG2_chr2_945849_1372613 | 1223229 | C | GTGGAGGT others(6077): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 187 | 0.0053 | 6084 | c.719 others(6103): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | chr2 | TogoVar | |||||||
TTC28_chr22_27973014_28684840 | 28059913 | C | CTACCCAT others(6077): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0031 | a0001c0031t0068 | a0001c0031t0068g0191 | 1 | 178 | 0.0056 | 6084 | c.393 others(6105): Show |
TTC28 | ENSG00000100154.15 | transcript | ENST00000397906.7 | protein_coding | 12/22 | chr22 | TogoVar | |||||||
TTC28_chr22_27973014_28684840 | 28059913 | C | CTACCCAT others(6077): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01361.hp1 HG01433.hp1 others(10): Show |
a0001 | a0001c0003a0001c0016 | a0001c0003t0002a0001c0003t0052a0001c0016t0002 | a0001c0003t0002g0150 a0001c0003t0002g0151 a0001c0003t0002g0152 others(10): Show |
13 | 190 | 0.0684 | 6084 | c.393 others(6105): Show |
TTC28 | ENSG00000100154.15 | transcript | ENST00000397906.7 | protein_coding | 12/22 | chr22 | TogoVar | |||||||
TTC28_chr22_27973014_28684840 | 28059913 | C | CTACCCAT others(6077): Show |
intron_variant | MODIFIER | HG01257.hp2 HG03490.hp1 HG03492.hp2 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0162 a0001c0003t0002g0164 a0001c0003t0002g0165 |
3 | 180 | 0.0167 | 6084 | c.393 others(6105): Show |
TTC28 | ENSG00000100154.15 | transcript | ENST00000397906.7 | protein_coding | 12/22 | chr22 | TogoVar | |||||||
CDK14_chr7_90591321_91215590 | 90702592 | T | TTTAATTT others(6078): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0030 | 1 | 158 | 0.0063 | 6085 | c.124 others(6104): Show |
CDK14 | ENSG00000058091.17 | transcript | ENST00000380050.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
MAP3K9_chr14_70717526_70814513 | 70731059 | T | TAAGAATA others(6078): Show |
intron_variant | MODIFIER | HG01358.hp2 HG02273.hp1 HG04204.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0008 a0001c0002t0001g0076 a0001c0002t0001g0108 others(1): Show |
5 | 322 | 0.0155 | 6085 | c.283 others(6102): Show |
MAP3K9 | ENSG00000006432.16 | transcript | ENST00000554752.7 | protein_coding | 11/11 | chr14 | TogoVar | |||||||
MAP3K9_chr14_70717526_70814513 | 70731059 | T | TAAGAATA others(6078): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0002 | a0001c0002t0031 | a0001c0002t0031g0177 | 1 | 318 | 0.0031 | 6085 | c.283 others(6102): Show |
MAP3K9 | ENSG00000006432.16 | transcript | ENST00000554752.7 | protein_coding | 11/11 | chr14 | TogoVar | |||||||
MAP3K9_chr14_70717526_70814513 | 70731059 | T | TAAGAATA others(6078): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0109 | 1 | 318 | 0.0031 | 6085 | c.283 others(6102): Show |
MAP3K9 | ENSG00000006432.16 | transcript | ENST00000554752.7 | protein_coding | 11/11 | chr14 | TogoVar | |||||||
MED12L_chr3_151080664_151441653 | 151430755 | T | TCCCGAAG others(6078): Show |
intron_variant | MODIFIER | NA18994.hp1 NA19002.hp2 |
a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0225 a0002c0003t0005g0268 |
2 | 127 | 0.0157 | 6085 | c.649 others(6102): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RBFOX2_chr22_35733736_36033824 | 35735298 | T | TCCACCTG others(6078): Show |
downstream_gene_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0051 | 1 | 23 | 0.0435 | 6085 | c.*89 others(6096): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3437 | chr22 | TogoVar | |||||||
SCML2_chrX_18234313_18359688 | 18334618 | A | AAGCCTTG others(6078): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 244 | 0.0041 | 6085 | c.-24 others(6100): Show |
SCML2 | ENSG00000102098.19 | transcript | ENST00000251900.9 | protein_coding | 1/14 | chrX | TogoVar | |||||||
ZNF622_chr5_16446519_16470800 | 16464186 | T | TGAAACTT others(6078): Show |
intron_variant | MODIFIER | HG01123.hp2 HG02683.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 a0001c0001t0001g0077 |
2 | 391 | 0.0051 | 6085 | c.626 others(6100): Show |
ZNF622 | ENSG00000173545.5 | transcript | ENST00000308683.3 | protein_coding | 1/5 | chr5 | TogoVar | |||||||
MAP3K9_chr14_70717526_70814513 | 70731059 | T | TAAGAATA others(6079): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0104 | 1 | 318 | 0.0031 | 6086 | c.283 others(6103): Show |
MAP3K9 | ENSG00000006432.16 | transcript | ENST00000554752.7 | protein_coding | 11/11 | chr14 | TogoVar | |||||||
MAP3K9_chr14_70717526_70814513 | 70731059 | T | TAAGAATA others(6079): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0105 | 1 | 318 | 0.0031 | 6086 | c.283 others(6103): Show |
MAP3K9 | ENSG00000006432.16 | transcript | ENST00000554752.7 | protein_coding | 11/11 | chr14 | TogoVar | |||||||
MAP3K9_chr14_70717526_70814513 | 70731059 | T | TAAGAATA others(6079): Show |
intron_variant | MODIFIER | HG02040.hp1 NA19056.hp2 |
a0001 | a0001c0002 | a0001c0002t0031a0001c0002t0041 | a0001c0002t0031g0079 a0001c0002t0041g0017 |
2 | 319 | 0.0063 | 6086 | c.283 others(6103): Show |
MAP3K9 | ENSG00000006432.16 | transcript | ENST00000554752.7 | protein_coding | 11/11 | chr14 | TogoVar | |||||||
SCML2_chrX_18234313_18359688 | 18334618 | A | AAGCCTTG others(6079): Show |
intron_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 244 | 0.0041 | 6086 | c.-24 others(6101): Show |
SCML2 | ENSG00000102098.19 | transcript | ENST00000251900.9 | protein_coding | 1/14 | chrX | TogoVar | |||||||
UBE3D_chr6_82887390_83070841 | 83035564 | T | TAAGAAGT others(6079): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0123 | 1 | 178 | 0.0056 | 6086 | c.667 others(6103): Show |
UBE3D | ENSG00000118420.17 | transcript | ENST00000369747.8 | protein_coding | 5/9 | chr6 | TogoVar | |||||||
UBE3D_chr6_82887390_83070841 | 83035564 | T | TAAGAAGT others(6079): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 178 | 0.0056 | 6086 | c.667 others(6103): Show |
UBE3D | ENSG00000118420.17 | transcript | ENST00000369747.8 | protein_coding | 5/9 | chr6 | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31277883 | T | TAAAACTA others(6080): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 125 | 0.0080 | 6087 | c.922 others(6108): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 62/78 | chrX | TogoVar | |||||||
GPHN_chr14_66503147_67186803 | 66953146 | A | ACACCTTT others(6080): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 108 | 0.0093 | 6087 | c.829 others(6106): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KCNH5_chr14_62694464_63050458 | 62767016 | A | ATGAACAG others(6080): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0138 | 1 | 222 | 0.0045 | 6087 | c.201 others(6108): Show |
KCNH5 | ENSG00000140015.20 | transcript | ENST00000322893.12 | protein_coding | 10/10 | chr14 | TogoVar | |||||||
KIF5C_chr2_148870227_149031759 | 148957970 | T | TGTATCTG others(6080): Show |
intron_variant | MODIFIER | HG03195.hp2 HG03453.hp2 NA19240.hp1 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0091 a0001c0003t0003g0149 a0001c0003t0003g0150 |
3 | 176 | 0.0170 | 6087 | c.969 others(6104): Show |
KIF5C | ENSG00000168280.18 | transcript | ENST00000435030.6 | protein_coding | 10/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KLHL1_chr13_69695597_70113452 | 69946911 | T | TTTGTCAT others(6080): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0094 | 1 | 179 | 0.0056 | 6087 | c.818 others(6104): Show |
KLHL1 | ENSG00000150361.12 | transcript | ENST00000377844.9 | protein_coding | 3/10 | chr13 | TogoVar | |||||||
MAP3K9_chr14_70717526_70814513 | 70731059 | T | TAAGAATA others(6080): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0002 | a0001c0002t0061 | a0001c0002t0061g0080 | 1 | 318 | 0.0031 | 6087 | c.283 others(6104): Show |
MAP3K9 | ENSG00000006432.16 | transcript | ENST00000554752.7 | protein_coding | 11/11 | chr14 | TogoVar | |||||||
MED12L_chr3_151080664_151441653 | 151430755 | T | TCCCGAAG others(6080): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0267 | 1 | 126 | 0.0079 | 6087 | c.649 others(6104): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MYO10_chr5_16656907_16941288 | 16882901 | A | ATCAAATC others(6080): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0115 | 1 | 240 | 0.0042 | 6087 | c.22- others(6102): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 1/40 | chr5 | TogoVar | |||||||
MYO10_chr5_16656907_16941288 | 16882901 | A | ATCAAATC others(6080): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0008 | a0008c0023 | a0008c0023t0025 | a0008c0023t0025g0205 | 1 | 240 | 0.0042 | 6087 | c.22- others(6102): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 1/40 | chr5 | TogoVar | |||||||
UBE3D_chr6_82887390_83070841 | 83035564 | T | TAAGAAGT others(6080): Show |
intron_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019 | 1 | 178 | 0.0056 | 6087 | c.667 others(6104): Show |
UBE3D | ENSG00000118420.17 | transcript | ENST00000369747.8 | protein_coding | 5/9 | chr6 | TogoVar | |||||||
UCKL1_chr20_63934829_63961416 | 63948641 | T | TGTGTGAG others(6080): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0264 | 1 | 351 | 0.0028 | 6087 | c.114 others(6104): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
UGGT2_chr13_95796580_96058401 | 95978721 | T | TCTAGTTT others(6080): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0220 | 1 | 330 | 0.0030 | 6087 | c.109 others(6106): Show |
UGGT2 | ENSG00000102595.22 | transcript | ENST00000376747.8 | protein_coding | 10/38 | chr13 | TogoVar | |||||||
CDK14_chr7_90591321_91215590 | 90702592 | T | TTTAATTT others(6081): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0082 | 1 | 158 | 0.0063 | 6088 | c.124 others(6107): Show |
CDK14 | ENSG00000058091.17 | transcript | ENST00000380050.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137716460 | T | TGGGGGAG others(6081): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0014 | 1 | 129 | 0.0078 | 6088 | c.86- others(6099): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GPHN_chr14_66503147_67186803 | 66953146 | A | ACACCTTT others(6081): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 108 | 0.0093 | 6088 | c.829 others(6107): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KLHL1_chr13_69695597_70113452 | 69946911 | T | TTTGTCAT others(6081): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0002 | a0001c0002t0022 | a0001c0002t0022g0172 | 1 | 179 | 0.0056 | 6088 | c.818 others(6105): Show |
KLHL1 | ENSG00000150361.12 | transcript | ENST00000377844.9 | protein_coding | 3/10 | chr13 | TogoVar |