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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PHF21B_chr22_44876162_45015005 | 44984159 | C | CACCACCA others(719): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0257 | 1 | 70 | 0.0143 | 726 | c.120 others(745): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 2/12 | chr22 | TogoVar | |||||||
PHF21B_chr22_44876162_45015005 | 44984159 | C | CACCACCA others(719): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0254 | 1 | 70 | 0.0143 | 726 | c.120 others(745): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 2/12 | chr22 | TogoVar | |||||||
PLEKHG4B_chr5_87168_194966 | 141104 | C | CCCCCTGC others(719): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0004 | a0004c0043 | a0004c0043t0094 | a0004c0043t0094g0100 | 1 | 24 | 0.0417 | 726 | c.147 others(743): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
POU6F2_chr7_38972909_39473601 | 39040063 | T | TTATATAT others(719): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0082 | 1 | 36 | 0.0278 | 726 | c.106 others(745): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PPP1R14C_chr6_150138044_150255392 | 150167965 | T | TCTTTCTC others(719): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0220 | 1 | 261 | 0.0038 | 726 | c.306 others(745): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PPP1R14C_chr6_150138044_150255392 | 150167968 | T | TTCTCCCC others(719): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01070.hp2 HG01074.hp2 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003 | a0002c0002t0002g0308 a0002c0002t0003g0302 a0002c0002t0003g0303 others(6): Show |
9 | 274 | 0.0328 | 726 | c.306 others(745): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PTPRT_chr20_42067756_43194906 | 43068103 | G | GGAGGGAG others(719): Show |
intron_variant | MODIFIER | HG03540.hp1 NA19240.hp1 |
a0001 | a0001c0003a0001c0027 | a0001c0003t0029a0001c0027t0028 | a0001c0003t0029g0048 a0001c0027t0028g0049 |
2 | 17 | 0.1176 | 726 | c.88+ others(745): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 1/30 | chr20 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 467520 | G | GGGGGCGT others(719): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0178 | 1 | 267 | 0.0037 | 726 | c.809 others(743): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 467520 | G | GGGGGCGT others(719): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0051 | 1 | 267 | 0.0037 | 726 | c.809 others(743): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 467526 | G | GTCAGGGA others(719): Show |
intron_variant | MODIFIER | NA18984.hp2 NA19004.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0052 | a0001c0001t0008g0064 a0001c0001t0052g0063 |
2 | 290 | 0.0069 | 726 | c.809 others(743): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 468030 | G | GTCAGGGA others(719): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02280.hp2 |
a0001 | a0001c0002 | a0001c0002t0019 | a0001c0002t0019g0036 a0001c0002t0019g0285 |
2 | 248 | 0.0081 | 726 | c.809 others(743): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAC2_chr22_37220270_37249269 | 37227454 | G | GCCCTCCT others(719): Show |
intron_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0192 | 1 | 9 | 0.1111 | 726 | c.449 others(741): Show |
RAC2 | ENSG00000128340.16 | transcript | ENST00000249071.11 | protein_coding | 5/6 | chr22 | TogoVar | |||||||
RIN3_chr14_92508781_92693994 | 92640424 | A | ATTTGCTG others(719): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0222 | 1 | 146 | 0.0068 | 726 | c.441 others(741): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SEL1L2_chr20_13844247_13995614 | 13934343 | C | CATATATA others(719): Show |
intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 230 | 0.0043 | 726 | c.115 others(743): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEPTIN9_chr17_77276499_77505593 | 77356670 | C | CCCCCTCC others(719): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0107 | 1 | 40 | 0.0250 | 726 | c.77- others(743): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77314518_77505593 | 77356670 | C | CCCCCTCC others(719): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0112 | 1 | 45 | 0.0222 | 726 | c.22+ others(743): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SHC2_chr19_411589_466033 | 431834 | T | TGGCGCTT others(719): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0023 | a0001c0023t0007 | a0001c0023t0007g0187 | 1 | 210 | 0.0048 | 726 | c.111 others(745): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | |||||||
SLC37A3_chr7_140328752_140403530 | 140387809 | A | AAATATAA others(719): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0141 | 1 | 132 | 0.0076 | 726 | c.-70 others(743): Show |
SLC37A3 | ENSG00000157800.18 | transcript | ENST00000326232.14 | protein_coding | 1/14 | chr7 | TogoVar | |||||||
SNX9_chr6_157818246_157950077 | 157827466 | C | CATATATT others(719): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246 | 1 | 82 | 0.0122 | 726 | c.12+ others(741): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | chr6 | TogoVar | |||||||
SPAAR_chr9_35904490_35916686 | 35914071 | T | TGTGTGTG others(719): Show |
downstream_gene_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 338 | 0.0030 | 726 | c.*33 others(737): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2386 | chr9 | TogoVar | |||||||
SPATA6_chr1_48290373_48477204 | 48384351 | A | AGGGAGAG others(719): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0182 | 1 | 318 | 0.0031 | 726 | c.909 others(741): Show |
SPATA6 | ENSG00000132122.12 | transcript | ENST00000371847.8 | protein_coding | 9/12 | chr1 | TogoVar | |||||||
SRXN1_chr20_641615_658200 | 642230 | T | TGGGGGGG others(719): Show |
downstream_gene_variant | MODIFIER | HG02074.hp2 HG02080.hp2 NA18973.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0002 a0001c0001t0002g0057 a0001c0002t0001g0155 |
3 | 82 | 0.0366 | 726 | c.*64 others(737): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4384 | chr20 | TogoVar | |||||||
TGM2_chr20_38122385_38170270 | 38124003 | C | CTATTATA others(719): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 NA18906.hp1 |
a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0168 a0001c0004t0004g0169 |
2 | 83 | 0.0241 | 726 | c.*62 others(737): Show |
TGM2 | ENSG00000198959.12 | transcript | ENST00000361475.7 | protein_coding | 3381 | chr20 | TogoVar | |||||||
TMEM120B_chr12_121707752_121787068 | 121747875 | A | GCTGGGGT others(719): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0079 | a0001c0001t0079g0150 | 1 | 286 | 0.0035 | 726 | c.189 others(741): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | chr12 | TogoVar | |||||||
TMPRSS9_chr19_2355265_2431261 | 2377639 | C | CTCTCCCC others(719): Show |
intron_variant | MODIFIER | NA19088.hp1 | a0004 | a0004c0003 | a0004c0003t0003 | a0004c0003t0003g0057 | 1 | 10 | 0.1000 | 726 | c.-25 others(745): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TMPRSS9_chr19_2355265_2431261 | 2377639 | C | CTCTCCCC others(719): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0005 | 1 | 10 | 0.1000 | 726 | c.-25 others(745): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TNS1_chr2_217794791_218007995 | 217805592 | C | CCACCACA others(719): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02717.hp2 HG03516.hp2 |
a0003a0010a0039 | a0003c0060a0010c0044a0039c0069 | a0003c0060t0009a0010c0044t0010a0039c0069t0005 | a0003c0060t0009g0217 a0010c0044t0010g0015 a0039c0069t0005g0006 |
3 | 51 | 0.0588 | 726 | c.537 others(743): Show |
TNS1 | ENSG00000079308.21 | transcript | ENST00000682258.1 | protein_coding | 32/32 | chr2 | TogoVar | |||||||
TPO_chr2_1408463_1548673 | 1478427 | T | TTTTTTTT others(719): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0062 | 1 | 127 | 0.0079 | 726 | c.133 others(743): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 8/16 | chr2 | TogoVar | |||||||
UBE2J2_chr1_1248912_1278854 | 1248971 | G | GCGAGGGA others(719): Show |
downstream_gene_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 254 | 0.0039 | 726 | c.*62 others(737): Show |
UBE2J2 | ENSG00000160087.21 | transcript | ENST00000349431.11 | protein_coding | 4940 | chr1 | TogoVar | |||||||
UBE2J2_chr1_1248912_1278854 | 1249037 | G | GCGAGGGA others(719): Show |
downstream_gene_variant | MODIFIER | HG01975.hp2 HG01993.hp2 HG03669.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001a0001c0003t0002 | a0001c0001t0001g0258 a0001c0001t0001g0289 a0001c0003t0001g0268 others(2): Show |
5 | 87 | 0.0575 | 726 | c.*61 others(737): Show |
UBE2J2 | ENSG00000160087.21 | transcript | ENST00000349431.11 | protein_coding | 4874 | chr1 | TogoVar | |||||||
VCX3B_chrX_8459830_8471510 | 8467389 | A | AATAGGTG others(719): Show |
downstream_gene_variant | MODIFIER | NA18944.hp1 | a0005 | a0005c0004 | a0005c0004t0001 | a0005c0004t0001g0005 | 1 | 208 | 0.0048 | 726 | c.*10 others(737): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 880 | chrX | TogoVar | |||||||
WDR64_chr1_241647281_241807777 | 241675123 | C | CCTTCCTT others(719): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0006 | a0006c0008 | a0006c0008t0003 | a0006c0008t0003g0323 | 1 | 25 | 0.0400 | 726 | c.483 others(741): Show |
WDR64 | ENSG00000162843.18 | transcript | ENST00000437684.7 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZBTB8A_chr1_32534427_32610941 | 32581182 | T | TTATATAT others(719): Show |
intron_variant | MODIFIER | NA18947.hp1 NA18950.hp2 NA18961.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0054 | a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0008g0016 others(5): Show |
8 | 51 | 0.1569 | 726 | c.-1- others(743): Show |
ZBTB8A | ENSG00000160062.15 | transcript | ENST00000373510.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZBTB8A_chr1_32534427_32610941 | 32581182 | T | TTATATAT others(719): Show |
intron_variant | MODIFIER | NA18954.hp1 NA18964.hp1 NA18980.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0046 | a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0003g0052 others(1): Show |
4 | 47 | 0.0851 | 726 | c.-1- others(743): Show |
ZBTB8A | ENSG00000160062.15 | transcript | ENST00000373510.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZNF365_chr10_62369369_62407450 | 62370953 | G | GTGATATA others(719): Show |
upstream_gene_variant | MODIFIER | HG02896.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0035 | 2 | 326 | 0.0061 | 726 | c.-35 others(737): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3415 | chr10 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACTATA others(720): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 30 | 0.0333 | 727 | c.505 others(746): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 318053 | C | CCCCCCTC others(720): Show |
upstream_gene_variant | MODIFIER | HG03239.hp1 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0176 | 1 | 265 | 0.0038 | 727 | c.-37 others(738): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3660 | chr5 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251789 | G | GAAGGGAA others(720): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0075 | 1 | 5 | 0.2000 | 727 | c.927 others(744): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251789 | G | GAAGGGAA others(720): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0089 | 1 | 5 | 0.2000 | 727 | c.927 others(744): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251789 | G | GAAGGGAA others(720): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0178 | 1 | 5 | 0.2000 | 727 | c.927 others(744): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251789 | G | GAAGGGAA others(720): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0073 | 1 | 5 | 0.2000 | 727 | c.927 others(744): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251789 | G | GAAGGGAA others(720): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 5 | 0.2000 | 727 | c.927 others(744): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251789 | G | GAAGGGAA others(720): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 5 | 0.2000 | 727 | c.927 others(744): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 410823 | C | CCTGCTGG others(720): Show |
upstream_gene_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0115 | a0001c0001t0115g0094 | 1 | 266 | 0.0038 | 727 | c.-18 others(738): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1677 | chr19 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 411314 | C | CCGGATCC others(720): Show |
upstream_gene_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0058 | a0001c0001t0058g0069 | 1 | 312 | 0.0032 | 727 | c.-23 others(738): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 2168 | chr19 | TogoVar | |||||||
CAMKK2_chr12_121232692_121301709 | 121255330 | T | TTATATAT others(720): Show |
intron_variant | MODIFIER | HG01496.hp2 HG01978.hp2 |
a0003 | a0003c0003 | a0003c0003t0018a0003c0003t0022 | a0003c0003t0018g0196 a0003c0003t0022g0036 |
2 | 287 | 0.0070 | 727 | c.907 others(742): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 9/16 | chr12 | TogoVar | |||||||
CAPN11_chr6_44153820_44189401 | 44182049 | A | ACACACAC others(720): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 316 | 0.0032 | 727 | c.193 others(744): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44182049 | A | ACACACAC others(720): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 316 | 0.0032 | 727 | c.193 others(744): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DHRS3_chr1_12562910_12623210 | 12565675 | C | CTCCTGGC others(720): Show |
downstream_gene_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0287 | 1 | 271 | 0.0037 | 727 | c.*26 others(738): Show |
DHRS3 | ENSG00000162496.9 | transcript | ENST00000616661.5 | protein_coding | 2234 | chr1 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 322731 | C | CTGTTAGA others(720): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0013 | a0001c0013t0002 | a0001c0013t0002g0045 | 1 | 69 | 0.0145 | 727 | c.392 others(746): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 31/36 | chr10 | TogoVar |