| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| FLT4_chr5_180596506_180654600 | 180635677 | A | ATGAAGTA others(734): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0006 | a0006c0010 | a0006c0010t0015 | a0006c0010t0015g0251 | 1 | 370 | 0.0027 | 741 | c.59- others(756): Show |
FLT4 | ENSG00000037280.16 | transcript | ENST00000261937.11 | protein_coding | 1/29 | chr5 | TogoVar | |||||||
| FTCD_chr21_46131779_46160579 | 46144485 | T | TCCCCTTT others(734): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0200 | 1 | 4 | 0.2500 | 741 | c.126 others(758): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | |||||||
| FTCD_chr21_46131779_46160579 | 46144485 | T | TCCCCTTT others(734): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0145 | 1 | 4 | 0.2500 | 741 | c.126 others(758): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | |||||||
| GRAMD1B_chr11_123425269_123632767 | 123584374 | T | TGGGAGGG others(734): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02630.hp1 HG02818.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0065a0001c0001t0066 | a0001c0001t0008g0227 a0001c0001t0008g0282 a0001c0001t0065g0188 others(1): Show |
4 | 133 | 0.0301 | 741 | c.684 others(754): Show |
GRAMD1B | ENSG00000023171.20 | transcript | ENST00000635736.2 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| GRIN2A_chr16_9748408_10187428 | 10040002 | C | CACACACA others(734): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01099.hp2 HG01981.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013a0001c0001t0017others(1): Show | a0001c0001t0002g0038 a0001c0001t0002g0057 a0001c0001t0013g0054 others(2): Show |
5 | 6 | 0.8333 | 741 | c.415 others(762): Show |
GRIN2A | ENSG00000183454.18 | transcript | ENST00000330684.4 | protein_coding | 2/12 | chr16 | TogoVar | |||||||
| GTPBP6_chrX_299759_323796 | 322506 | A | AAAAAAAA others(734): Show |
upstream_gene_variant | MODIFIER | HG00733.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0117 | 1 | 152 | 0.0066 | 741 | c.-37 others(752): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 3711 | chrX | TogoVar | |||||||
| HNF4A_chr20_44350699_44437845 | 44404776 | T | TGTGTTTG others(734): Show |
intron_variant | MODIFIER | HG01261.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0055 | a0001c0001t0012g0256 a0001c0001t0055g0118 |
2 | 163 | 0.0123 | 741 | c.50- others(756): Show |
HNF4A | ENSG00000101076.20 | transcript | ENST00000316673.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
| IFITM3_chr11_314676_325860 | 321644 | C | CGGATTAT others(734): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG00735.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 4 | 29 | 0.1379 | 741 | c.-15 others(751): Show |
IFITM3 | ENSG00000142089.17 | transcript | ENST00000399808.5 | protein_coding | 785 | chr11 | TogoVar | |||||||
| IQCA1_chr2_236319151_236512476 | 236345131 | G | GCCCTGGT others(734): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0044 | 1 | 205 | 0.0049 | 741 | c.187 others(758): Show |
IQCA1 | ENSG00000132321.17 | transcript | ENST00000409907.8 | protein_coding | 15/18 | chr2 | TogoVar | |||||||
| LAMC1_chr1_183018420_183150592 | 183149453 | T | TCCTCACA others(734): Show |
downstream_gene_variant | MODIFIER | HG02559.hp2 HG02965.hp1 |
a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0232 a0002c0008t0001g0233 |
2 | 167 | 0.0120 | 741 | c.*66 others(752): Show |
LAMC1 | ENSG00000135862.6 | transcript | ENST00000258341.5 | protein_coding | 3862 | chr1 | TogoVar | |||||||
| LRP8_chr1_53237364_53333070 | 53283749 | C | CCACTTAC others(734): Show |
intron_variant | MODIFIER | HG00099.hp1 HG02165.hp1 HG02683.hp1 others(1): Show |
a0001a0003a0004 | a0001c0004a0003c0005a0004c0008 | a0001c0004t0027a0003c0005t0002a0003c0005t0028others(1): Show | a0001c0004t0027g0264 a0003c0005t0002g0083 a0003c0005t0028g0088 others(1): Show |
4 | 9 | 0.4444 | 741 | c.368 others(758): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | |||||||
| LRP8_chr1_53237364_53333070 | 53283749 | C | CCACTTAC others(734): Show |
intron_variant | MODIFIER | HG00558.hp1 NA18945.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0002 | a0001c0001t0001g0187 a0002c0003t0002g0060 |
2 | 7 | 0.2857 | 741 | c.368 others(758): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | |||||||
| MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(734): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0008 | a0008c0039 | a0008c0039t0001 | a0008c0039t0001g0117 | 1 | 8 | 0.1250 | 741 | c.115 others(758): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| MOCS1_chr6_39899170_39939462 | 39926745 | G | GGGAAGGG others(734): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0171 | 1 | 213 | 0.0047 | 741 | c.250 others(756): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
| MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(734): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0225 | 1 | 8 | 0.1250 | 741 | c.250 others(756): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
| MPG_chr16_73225_90846 | 81975 | A | ACCCCTTC others(734): Show |
intron_variant | MODIFIER | HG03139.hp1 NA20129.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0028 | 2 | 294 | 0.0068 | 741 | c.301 others(758): Show |
MPG | ENSG00000103152.12 | transcript | ENST00000356432.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| MPG_chr16_73225_90846 | 81997 | T | TCTCCGGG others(734): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 221 | 0.0045 | 741 | c.301 others(758): Show |
MPG | ENSG00000103152.12 | transcript | ENST00000356432.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| MSRB3_chr12_65273683_65471907 | 65425002 | C | CTATATAT others(734): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0212 | 1 | 8 | 0.1250 | 741 | c.293 others(760): Show |
MSRB3 | ENSG00000174099.12 | transcript | ENST00000308259.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| NKAIN2_chr6_123798865_124830640 | 124687570 | T | TTCCATAC others(734): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0059 | 1 | 36 | 0.0278 | 741 | c.474 others(760): Show |
NKAIN2 | ENSG00000188580.16 | transcript | ENST00000368417.6 | protein_coding | 4/6 | chr6 | TogoVar | |||||||
| NPRL3_chr16_80386_143673 | 81975 | A | ACCCCTTC others(734): Show |
downstream_gene_variant | MODIFIER | NA20129.hp1 | a0009 | a0009c0009 | a0009c0009t0001 | a0009c0009t0001g0031 | 1 | 239 | 0.0042 | 741 | c.*47 others(752): Show |
NPRL3 | ENSG00000103148.17 | transcript | ENST00000611875.5 | protein_coding | 3410 | chr16 | TogoVar | |||||||
| NPRL3_chr16_80386_143673 | 81997 | T | TCTCCGGG others(734): Show |
downstream_gene_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 181 | 0.0055 | 741 | c.*47 others(752): Show |
NPRL3 | ENSG00000103148.17 | transcript | ENST00000611875.5 | protein_coding | 3388 | chr16 | TogoVar | |||||||
| OR11H4_chr14_20234286_20249349 | 20237753 | A | ACTATAGT others(734): Show |
upstream_gene_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0247 | 1 | 243 | 0.0041 | 741 | c.-15 others(752): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1532 | chr14 | TogoVar | |||||||
| OR11H4_chr14_20234286_20249349 | 20237753 | A | ACTATAGT others(734): Show |
upstream_gene_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0249 | 1 | 243 | 0.0041 | 741 | c.-15 others(752): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1532 | chr14 | TogoVar | |||||||
| P2RX5_chr17_3668227_3701155 | 3685648 | G | GCGTCCCC others(734): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0311 | 1 | 307 | 0.0033 | 741 | c.981 others(758): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | |||||||
| PHF21B_chr22_44876162_45015005 | 44984159 | C | CACCACCA others(734): Show |
intron_variant | MODIFIER | NA18961.hp2 NA18969.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0041 | a0001c0001t0001g0059 a0001c0005t0041g0154 |
2 | 71 | 0.0282 | 741 | c.120 others(760): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 2/12 | chr22 | TogoVar | |||||||
| PHF21B_chr22_44876162_45015005 | 44984159 | C | CACCACCA others(734): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0063 | 1 | 70 | 0.0143 | 741 | c.120 others(760): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 2/12 | chr22 | TogoVar | |||||||
| PHF21B_chr22_44876162_45015005 | 44984159 | C | CACCACCA others(734): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01192.hp1 HG01255.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(4): Show | a0001c0001t0001g0081 a0001c0001t0001g0196 a0001c0001t0004g0080 others(12): Show |
15 | 84 | 0.1786 | 741 | c.120 others(760): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 2/12 | chr22 | TogoVar | |||||||
| PHF21B_chr22_44876162_45015005 | 44984159 | C | CACCACCA others(734): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0207 | 1 | 70 | 0.0143 | 741 | c.120 others(760): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 2/12 | chr22 | TogoVar | |||||||
| PHF21B_chr22_44876162_45015005 | 44984159 | C | CACCACCA others(734): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0272 | 1 | 70 | 0.0143 | 741 | c.120 others(760): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 2/12 | chr22 | TogoVar | |||||||
| PHF21B_chr22_44876162_45015005 | 44984159 | C | CACCACCA others(734): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02015.hp2 NA18939.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0131 a0001c0001t0001g0138 a0001c0001t0001g0164 others(2): Show |
5 | 74 | 0.0676 | 741 | c.120 others(760): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 2/12 | chr22 | TogoVar | |||||||
| PLCL2_chr3_16879955_17095604 | 17063256 | T | TCCTCCCT others(734): Show |
intron_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 140 | 0.0071 | 741 | c.309 others(760): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| PPP6R2_chr22_50338327_50450090 | 50351292 | G | GGCCTCCC others(734): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00735.hp2 others(12): Show |
a0001a0010 | a0001c0002a0001c0003a0010c0029 | a0001c0002t0005a0001c0002t0027a0001c0003t0003others(1): Show | a0001c0002t0005g0002 a0001c0002t0005g0003 a0001c0002t0005g0026 others(12): Show |
15 | 221 | 0.0679 | 741 | c.-14 others(760): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| PPP6R2_chr22_50338327_50450090 | 50351292 | G | GGCCTCCC others(734): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0005 | a0005c0010 | a0005c0010t0001 | a0005c0010t0001g0268 | 1 | 207 | 0.0048 | 741 | c.-14 others(760): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| PPP6R2_chr22_50338327_50450090 | 50351292 | G | GGCCTCCC others(734): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01361.hp1 HG01496.hp2 others(50): Show |
a0001a0002a0006others(3): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0015a0001c0001t0021others(14): Show | a0001c0001t0001g0290 a0001c0001t0015g0307 a0001c0001t0015g0308 others(50): Show |
53 | 259 | 0.2046 | 741 | c.-14 others(760): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| PPP6R2_chr22_50338327_50450090 | 50351292 | G | GGCCTCCC others(734): Show |
intron_variant | MODIFIER | HG03098.hp1 HG03486.hp2 |
a0001a0015 | a0001c0002a0015c0033 | a0001c0002t0011a0015c0033t0011 | a0001c0002t0011g0336 a0015c0033t0011g0334 |
2 | 208 | 0.0096 | 741 | c.-14 others(760): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| PPP6R2_chr22_50338327_50450090 | 50351292 | G | GGCCTCCC others(734): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0314 | 1 | 207 | 0.0048 | 741 | c.-14 others(760): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| RAB11FIP3_chr16_420649_528011 | 458567 | G | GTTCAGTG others(734): Show |
intron_variant | MODIFIER | HG02083.hp1 NA18946.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0088 a0001c0001t0004g0090 |
2 | 264 | 0.0076 | 741 | c.715 others(758): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| RAB11FIP3_chr16_420649_528011 | 458604 | G | GGGTTCAC others(734): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0128 | 1 | 207 | 0.0048 | 741 | c.715 others(758): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| RASA3_chr13_113972783_114137623 | 114099675 | G | GCCCCCCA others(734): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 52 | 0.0192 | 741 | c.56- others(758): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | |||||||
| RASA3_chr13_113972783_114137623 | 114099909 | A | ACCCCACA others(734): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 34 | 0.0294 | 741 | c.56- others(758): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | |||||||
| RFX3_chr9_3213297_3531001 | 3504671 | C | CATATAAA others(734): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0151 | 1 | 82 | 0.0122 | 741 | c.-9+ others(758): Show |
RFX3 | ENSG00000080298.16 | transcript | ENST00000617270.5 | protein_coding | 1/16 | chr9 | TogoVar | |||||||
| ROBO2_chr3_77035099_77654964 | 77289942 | G | GCTGAGGC others(734): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0139 | 1 | 160 | 0.0063 | 741 | c.389 others(762): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| RPH3AL_chr17_207389_357807 | 356532 | T | CCACAGGC others(734): Show |
upstream_gene_variant | MODIFIER | HG01978.hp1 HG03831.hp2 NA18947.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0091 a0001c0001t0003g0080 a0001c0001t0004g0087 others(1): Show |
4 | 87 | 0.0460 | 741 | c.-40 others(752): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 3725 | chr17 | TogoVar | |||||||
| RPH3AL_chr17_207389_357807 | 356559 | T | TCACAGTC others(734): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0115 a0001c0001t0008g0113 |
2 | 89 | 0.0225 | 741 | c.-40 others(752): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 3753 | chr17 | TogoVar | |||||||
| RPH3AL_chr17_207389_357807 | 356598 | T | TCACAGTC others(734): Show |
upstream_gene_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0127 | 1 | 85 | 0.0118 | 741 | c.-41 others(752): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 3792 | chr17 | TogoVar | |||||||
| RUNX1_chr21_34782801_35054302 | 34931569 | A | ATGTATAC others(734): Show |
intron_variant | MODIFIER | HG02055.hp1 NA19043.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0075 a0001c0002t0003g0161 |
2 | 122 | 0.0164 | 741 | c.59- others(758): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 2/8 | chr21 | TogoVar | |||||||
| S1PR4_chr19_3173769_3185332 | 3178051 | A | ATCGGGCT others(734): Show |
upstream_gene_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 258 | 0.0039 | 741 | c.-74 others(750): Show |
S1PR4 | ENSG00000125910.6 | transcript | ENST00000246115.5 | protein_coding | 717 | chr19 | TogoVar | |||||||
| SCAMP1_chr5_78355617_78485739 | 78430042 | T | TTACAGTA others(734): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0046 | 1 | 182 | 0.0055 | 741 | c.632 others(758): Show |
SCAMP1 | ENSG00000085365.18 | transcript | ENST00000621999.5 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| SCAMP1_chr5_78355617_78485739 | 78430269 | A | AATACAGT others(734): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0159 | 1 | 268 | 0.0037 | 741 | c.632 others(758): Show |
SCAMP1 | ENSG00000085365.18 | transcript | ENST00000621999.5 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| SEL1L2_chr20_13844247_13995614 | 13934343 | C | CATATATA others(734): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 230 | 0.0043 | 741 | c.115 others(758): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar |