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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TUBGCP5_chr15_22994177_23044569 | 23043578 | G | GCCAGAGG others(1732): Show |
upstream_gene_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 347 | 0.0029 | 1739 | c.-40 others(1750): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 4010 | chr15 | TogoVar | |||||||
WDR64_chr1_241647281_241807777 | 241675133 | T | TCCCTCCC others(1732): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0033 | 1 | 312 | 0.0032 | 1739 | c.483 others(1754): Show |
WDR64 | ENSG00000162843.18 | transcript | ENST00000437684.7 | protein_coding | 4/27 | chr1 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1289516 | T | TCTCTGCC others(1733): Show |
downstream_gene_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 271 | 0.0037 | 1740 | c.*40 others(1751): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2874 | chr1 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACTATA others(1733): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 30 | 0.0333 | 1740 | c.505 others(1759): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACTATA others(1733): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 30 | 0.0333 | 1740 | c.505 others(1759): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACTATA others(1733): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 30 | 0.0333 | 1740 | c.505 others(1759): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758516 | T | TCACCTGC others(1733): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0032 | a0032c0035 | a0032c0035t0005 | a0032c0035t0005g0216 | 1 | 157 | 0.0064 | 1740 | c.655 others(1759): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
C4orf19_chr4_37448925_37598510 | 37585445 | G | GAGGAGGG others(1733): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0169 | 1 | 297 | 0.0034 | 1740 | c.-22 others(1757): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1329777 | C | CTGGTGGA others(1733): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0291 | 1 | 269 | 0.0037 | 1740 | c.108 others(1757): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 9/16 | chr5 | TogoVar | |||||||
CYSLTR1_chrX_78266468_78332611 | 78269606 | A | AATACAGA others(1733): Show |
downstream_gene_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 57 | 0.0175 | 1740 | c.*31 others(1751): Show |
CYSLTR1 | ENSG00000173198.6 | transcript | ENST00000373304.4 | protein_coding | 1861 | chrX | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 642854 | A | ACAGGCAG others(1733): Show |
downstream_gene_variant | MODIFIER | HG02615.hp2 | a0004 | a0004c0012 | a0004c0012t0001 | a0004c0012t0001g0271 | 1 | 7 | 0.1429 | 1740 | c.*16 others(1751): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1378 | chr11 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 642854 | A | ACAGGCGG others(1733): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG01243.hp1 others(15): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0204 a0001c0002t0001g0208 a0001c0002t0001g0210 others(15): Show |
18 | 24 | 0.7500 | 1740 | c.*16 others(1751): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1378 | chr11 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 642854 | A | ACAGGCGG others(1733): Show |
downstream_gene_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0231 | 1 | 7 | 0.1429 | 1740 | c.*16 others(1751): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1378 | chr11 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 642854 | A | ACAGGCGG others(1733): Show |
downstream_gene_variant | MODIFIER | HG03098.hp1 HG03130.hp1 NA18522.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0244 a0001c0002t0001g0248 a0001c0002t0001g0249 |
3 | 9 | 0.3333 | 1740 | c.*16 others(1751): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1378 | chr11 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 642854 | A | ACAGGCGG others(1733): Show |
downstream_gene_variant | MODIFIER | HG02040.hp2 HG02056.hp1 HG02129.hp1 others(13): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0203 a0001c0002t0001g0209 a0001c0002t0001g0219 others(13): Show |
16 | 22 | 0.7273 | 1740 | c.*16 others(1751): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1378 | chr11 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 642854 | A | ACAGGCGG others(1733): Show |
downstream_gene_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0226 | 1 | 7 | 0.1429 | 1740 | c.*16 others(1751): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1378 | chr11 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 642854 | A | ACAGGCGG others(1733): Show |
downstream_gene_variant | MODIFIER | NA19055.hp2 NA19079.hp1 |
a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0005 a0002c0005t0001g0006 |
2 | 8 | 0.2500 | 1740 | c.*16 others(1751): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1378 | chr11 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 642854 | A | ACAGGCGG others(1733): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0265 | 1 | 7 | 0.1429 | 1740 | c.*16 others(1751): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1378 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642854 | A | ACAGGCAG others(1733): Show |
downstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 7 | 0.1429 | 1740 | c.*22 others(1751): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2149 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642854 | A | ACAGGCGG others(1733): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG01243.hp1 others(15): Show |
a0001a0004 | a0001c0002a0004c0007a0004c0034 | a0001c0002t0001a0004c0007t0001a0004c0034t0001 | a0001c0002t0001g0002 a0004c0007t0001g0002 a0004c0034t0001g0057 |
18 | 24 | 0.7500 | 1740 | c.*22 others(1751): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2149 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642854 | A | ACAGGCGG others(1733): Show |
downstream_gene_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 7 | 0.1429 | 1740 | c.*22 others(1751): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2149 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642854 | A | ACAGGCGG others(1733): Show |
downstream_gene_variant | MODIFIER | HG03098.hp1 HG03130.hp1 NA18522.hp1 |
a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0029 a0007c0009t0001g0060 |
3 | 9 | 0.3333 | 1740 | c.*22 others(1751): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2149 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642854 | A | ACAGGCGG others(1733): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 HG02040.hp2 HG02080.hp1 others(11): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0002t0001a0003c0004t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0002t0001g0015 others(3): Show |
14 | 20 | 0.7000 | 1740 | c.*22 others(1751): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2149 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642854 | A | ACAGGCGG others(1733): Show |
downstream_gene_variant | MODIFIER | NA18943.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0004 | 1 | 7 | 0.1429 | 1740 | c.*22 others(1751): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2149 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642854 | A | ACAGGCGG others(1733): Show |
downstream_gene_variant | MODIFIER | HG00609.hp2 NA18967.hp1 NA19002.hp2 others(3): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0011 a0003c0004t0001g0067 |
6 | 12 | 0.5000 | 1740 | c.*22 others(1751): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2149 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642854 | A | ACAGGCGG others(1733): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0068 | 1 | 7 | 0.1429 | 1740 | c.*22 others(1751): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2149 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642854 | A | ACAGGCGG others(1733): Show |
downstream_gene_variant | MODIFIER | NA19002.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0004 | 1 | 7 | 0.1429 | 1740 | c.*22 others(1751): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2149 | chr11 | TogoVar | |||||||
ENTREP2_chr15_29115252_29575979 | 29558678 | C | CCTCCCAC others(1733): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0003 | a0003c0007 | a0003c0007t0050 | a0003c0007t0050g0125 | 1 | 3 | 0.3333 | 1740 | c.219 others(1759): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
IQSEC3_chr12_61767_183455 | 163376 | C | CCACAGAA others(1733): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0024 | a0024c0053 | a0024c0053t0014 | a0024c0053t0014g0275 | 1 | 119 | 0.0084 | 1740 | c.258 others(1757): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
IQSEC3_chr12_61767_183455 | 163376 | C | CCACAGAA others(1733): Show |
intron_variant | MODIFIER | HG00438.hp2 NA19081.hp1 |
a0002a0004 | a0002c0001a0004c0011 | a0002c0001t0006a0004c0011t0006 | a0002c0001t0006g0156 a0004c0011t0006g0134 |
2 | 120 | 0.0167 | 1740 | c.258 others(1757): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
KDM2A_chr11_67114263_67263082 | 67233532 | A | ATCCCAGC others(1733): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0164 | 1 | 27 | 0.0370 | 1740 | c.147 others(1759): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KDM2A_chr11_67114263_67263082 | 67233532 | A | ATCCCAGC others(1733): Show |
intron_variant | MODIFIER | HG00597.hp2 HG02165.hp1 HG06807.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0005 a0001c0001t0001g0063 a0001c0001t0001g0122 others(2): Show |
5 | 31 | 0.1613 | 1740 | c.147 others(1759): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KDM2A_chr11_67114263_67263082 | 67233532 | A | ATCCCAGC others(1733): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG02132.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0064 others(3): Show |
6 | 32 | 0.1875 | 1740 | c.147 others(1759): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KDM2A_chr11_67114263_67263082 | 67233532 | A | ATCCCAGC others(1733): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 27 | 0.0370 | 1740 | c.147 others(1759): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KDM2A_chr11_67114263_67263082 | 67233532 | A | ATCCCAGC others(1733): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01496.hp2 HG02622.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0072 a0001c0001t0001g0077 others(1): Show |
4 | 30 | 0.1333 | 1740 | c.147 others(1759): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KDM2A_chr11_67114263_67263082 | 67233532 | A | ATCCCAGC others(1733): Show |
intron_variant | MODIFIER | HG03139.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 a0001c0001t0001g0103 |
2 | 28 | 0.0714 | 1740 | c.147 others(1759): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KDM2A_chr11_67114263_67263082 | 67233532 | A | ATCCCAGC others(1733): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 27 | 0.0370 | 1740 | c.147 others(1759): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KDM2A_chr11_67114263_67263082 | 67233532 | A | ATCCCAGC others(1733): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 27 | 0.0370 | 1740 | c.147 others(1759): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KDM2A_chr11_67114263_67263082 | 67233532 | A | ATCCCAGC others(1733): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 27 | 0.0370 | 1740 | c.147 others(1759): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KDM2A_chr11_67114263_67263082 | 67233532 | A | ATCCCAGC others(1733): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 27 | 0.0370 | 1740 | c.147 others(1759): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195775965 | C | CCATACCT others(1733): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0004 | a0004c0106 | a0004c0106t0002 | a0004c0106t0002g0156 | 1 | 225 | 0.0044 | 1740 | c.129 others(1761): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
RIN3_chr14_92508781_92693994 | 92547347 | C | CTTTATTT others(1733): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0032 | 1 | 126 | 0.0079 | 1740 | c.45- others(1755): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92547347 | C | CTTTATTT others(1733): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0008 | a0008c0010 | a0008c0010t0002 | a0008c0010t0002g0223 | 1 | 126 | 0.0079 | 1740 | c.45- others(1755): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92547347 | C | CTTTATTT others(1733): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0066 | 1 | 126 | 0.0079 | 1740 | c.45- others(1755): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RUSC2_chr9_35485111_35566895 | 35495153 | T | TATAGTAT others(1733): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 217 | 0.0046 | 1740 | c.-93 others(1757): Show |
RUSC2 | ENSG00000198853.12 | transcript | ENST00000361226.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1289516 | T | TCTCTGCC others(1733): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 267 | 0.0037 | 1740 | c.166 others(1757): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168594109 | G | GGGCATCT others(1733): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0036 | 1 | 171 | 0.0058 | 1740 | c.638 others(1757): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | chr6 | TogoVar | |||||||
SMOC2_chr6_168436184_168672992 | 168594370 | G | GGGCATCT others(1733): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03209.hp1 NA18522.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0002a0001c0002t0014 | a0001c0001t0006g0128 a0001c0002t0002g0004 a0001c0002t0014g0005 |
3 | 174 | 0.0172 | 1740 | c.638 others(1757): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | chr6 | TogoVar | |||||||
USP12_chr13_27061156_27176811 | 27063931 | A | AGGGAGGA others(1733): Show |
downstream_gene_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 62 | 0.0161 | 1740 | c.*53 others(1751): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2224 | chr13 | TogoVar | |||||||
USP12_chr13_27061156_27176811 | 27063934 | A | AGGGAGGA others(1733): Show |
downstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 4 | 0.2500 | 1740 | c.*53 others(1751): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2221 | chr13 | TogoVar |