regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AKAP3_chr12_4610518_4654051 | 4633739 | T | TCAGTAGT others(2749): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0010 | a0010c0012 | a0010c0012t0001 | a0010c0012t0001g0265 | 1 | 418 | 0.0024 | 2756 | c.96+ others(2771): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4/5 | chr12 | TogoVar | ||||||
BLOC1S2_chr10_100268293_100291680 | 100284883 | C | CAAGAACA others(2749): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 378 | 0.0027 | 2756 | c.172 others(2773): Show |
BLOC1S2 | ENSG00000196072.12 | transcript | ENST00000370372.7 | protein_coding | 2/4 | chr10 | TogoVar | ||||||
CCDC47_chr17_63740255_63778597 | 63768396 | T | TAAAAATT others(2749): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0198 | 1 | 352 | 0.0028 | 2756 | c.-19 others(2773): Show |
CCDC47 | ENSG00000108588.15 | transcript | ENST00000225726.10 | protein_coding | 1/12 | chr17 | TogoVar | ||||||
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(2749): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 175 | 0.0057 | 2756 | c.164 others(2775): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CNTN5_chr11_99015949_100363885 | 99819331 | T | TCTTCTCC others(2749): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0043 | 1 | 66 | 0.0152 | 2756 | c.56- others(2769): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
FOXK2_chr17_82514732_82609602 | 82586259 | G | GGGGAAAG others(2749): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0085 | 1 | 308 | 0.0033 | 2756 | c.157 others(2771): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PKD2L1_chr10_100283149_100335228 | 100284883 | C | CAAGAACA others(2749): Show |
downstream_gene_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 306 | 0.0033 | 2756 | c.*35 others(2767): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 3265 | chr10 | TogoVar | ||||||
RPS6_chr9_19370715_19385236 | 19385189 | T | TTTTTTGT others(2749): Show |
upstream_gene_variant | MODIFIER | HG03209.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012a0001c0001t0002g0029 | 2 | 422 | 0.0047 | 2756 | c.-49 others(2767): Show |
RPS6 | ENSG00000137154.13 | transcript | ENST00000380394.9 | protein_coding | 4954 | chr9 | TogoVar | ||||||
RPS6_chr9_19370715_19385236 | 19385189 | T | TTTTTTGT others(2749): Show |
upstream_gene_variant | MODIFIER | HG02717.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011 | a0001c0001t0002g0027a0001c0001t0011g0030 | 2 | 422 | 0.0047 | 2756 | c.-49 others(2767): Show |
RPS6 | ENSG00000137154.13 | transcript | ENST00000380394.9 | protein_coding | 4954 | chr9 | TogoVar | ||||||
RPS6_chr9_19370715_19385236 | 19385189 | T | TTTTTTGT others(2749): Show |
upstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0049 | 1 | 422 | 0.0024 | 2756 | c.-49 others(2767): Show |
RPS6 | ENSG00000137154.13 | transcript | ENST00000380394.9 | protein_coding | 4954 | chr9 | TogoVar | ||||||
RPS6_chr9_19370715_19385236 | 19385189 | T | TTTTTTGT others(2749): Show |
upstream_gene_variant | MODIFIER | HG02886.hp1 HG02922.hp1 HG02970.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0009a0001c0001t0003g0048 | 5 | 422 | 0.0119 | 2756 | c.-49 others(2767): Show |
RPS6 | ENSG00000137154.13 | transcript | ENST00000380394.9 | protein_coding | 4954 | chr9 | TogoVar | ||||||
RPS6_chr9_19370715_19385236 | 19385189 | T | TTTTTTGT others(2749): Show |
upstream_gene_variant | MODIFIER | HG02630.hp1 HG03195.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0024a0001c0001t0005g0050 | 3 | 422 | 0.0071 | 2756 | c.-49 others(2767): Show |
RPS6 | ENSG00000137154.13 | transcript | ENST00000380394.9 | protein_coding | 4954 | chr9 | TogoVar | ||||||
RPS6_chr9_19370715_19385236 | 19385204 | G | GTAGAGAT others(2749): Show |
upstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0009 | 1 | 422 | 0.0024 | 2756 | c.-50 others(2767): Show |
RPS6 | ENSG00000137154.13 | transcript | ENST00000380394.9 | protein_coding | 4969 | chr9 | TogoVar | ||||||
SH2D4B_chr10_80532902_80651560 | 80627643 | T | TACAAAAT others(2749): Show |
intron_variant | MODIFIER | NA18992.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0235 | 1 | 322 | 0.0031 | 2756 | c.989 others(2773): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SH2D4B_chr10_80532902_80651560 | 80627643 | T | TACAAAAT others(2749): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0269 | 1 | 322 | 0.0031 | 2756 | c.989 others(2773): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SH2D4B_chr10_80532902_80651560 | 80627643 | T | TACAAAAT others(2749): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0105 | 1 | 322 | 0.0031 | 2756 | c.989 others(2773): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SH2D4B_chr10_80532902_80651560 | 80627643 | T | TACAAAAT others(2749): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0131 | 1 | 322 | 0.0031 | 2756 | c.989 others(2773): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SH2D4B_chr10_80532902_80651560 | 80627643 | T | TACAAAAT others(2749): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0237 | 1 | 322 | 0.0031 | 2756 | c.989 others(2773): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SH2D4B_chr10_80532902_80651560 | 80627643 | T | TACAAAAT others(2749): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0107 | 1 | 322 | 0.0031 | 2756 | c.989 others(2773): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SH2D4B_chr10_80532902_80651560 | 80627643 | T | TACAAAAT others(2749): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0317 | 1 | 322 | 0.0031 | 2756 | c.989 others(2773): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2749): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0229 | 1 | 378 | 0.0027 | 2756 | c.372 others(2771): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2749): Show |
intron_variant | MODIFIER | NA18966.hp1 NA19065.hp2 |
a0001a0010 | a0001c0001a0010c0025 | a0001c0001t0001a0010c0025t0001 | a0001c0001t0001g0351a0010c0025t0001g0073 | 2 | 378 | 0.0053 | 2756 | c.372 others(2771): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2749): Show |
intron_variant | MODIFIER | NA18951.hp1 NA18957.hp1 NA19082.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0269a0001c0001t0001g0270a0001c0001t0001g0349others(1): Show | 4 | 378 | 0.0106 | 2756 | c.372 others(2771): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2749): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02083.hp1 HG02683.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074a0001c0001t0001g0116a0001c0001t0001g0117others(6): Show | 9 | 378 | 0.0238 | 2756 | c.372 others(2771): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2749): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02622.hp2 HG03471.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0002 | a0001c0001t0002g0331a0001c0001t0002g0333a0001c0001t0002g0334others(1): Show | 4 | 378 | 0.0106 | 2756 | c.372 others(2771): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2749): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG01192.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065a0001c0001t0001g0066a0001c0001t0001g0067others(14): Show | 17 | 378 | 0.0450 | 2756 | c.372 others(2771): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2749): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 378 | 0.0027 | 2756 | c.372 others(2771): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2749): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 378 | 0.0027 | 2756 | c.372 others(2771): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2749): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 378 | 0.0027 | 2756 | c.372 others(2771): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TMEM120B_chr12_121707752_121787068 | 121747289 | G | GCTGGGGT others(2749): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0098 | 1 | 314 | 0.0032 | 2756 | c.189 others(2773): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TRPM4_chr19_49152792_49216836 | 49169391 | C | CCTCCTGC others(2749): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0030 | a0001c0030t0001 | a0001c0030t0001g0086 | 1 | 312 | 0.0032 | 2756 | c.796 others(2771): Show |
TRPM4 | ENSG00000130529.16 | transcript | ENST00000252826.10 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
TRPM4_chr19_49152792_49216836 | 49169391 | C | CCTCCTGC others(2749): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02486.hp1 HG02818.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0013 | a0001c0001t0001a0001c0003t0001a0001c0013t0001 | a0001c0001t0001g0296a0001c0003t0001g0101a0001c0003t0001g0108others(1): Show | 4 | 312 | 0.0128 | 2756 | c.796 others(2771): Show |
TRPM4 | ENSG00000130529.16 | transcript | ENST00000252826.10 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2750): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0222 | 1 | 334 | 0.0030 | 2757 | c.147 others(2774): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79200733 | C | CAGGGTCA others(2750): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0092 | 1 | 298 | 0.0034 | 2757 | c.955 others(2774): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | chr18 | TogoVar | ||||||
CCDC47_chr17_63740255_63778597 | 63768396 | T | TAAAAATT others(2750): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0201a0001c0002t0001g0202 | 2 | 352 | 0.0057 | 2757 | c.-19 others(2774): Show |
CCDC47 | ENSG00000108588.15 | transcript | ENST00000225726.10 | protein_coding | 1/12 | chr17 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2750): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0092 | 1 | 316 | 0.0032 | 2757 | c.44- others(2770): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
HPCAL1_chr2_10297904_10432604 | 10399271 | C | CCACCACC others(2750): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0298 | 1 | 314 | 0.0032 | 2757 | c.-25 others(2774): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
LKAAEAR1_chr20_64078376_64089398 | 64088874 | T | TGGCCAGG others(2750): Show |
upstream_gene_variant | MODIFIER | NA19002.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0003 | 1 | 102 | 0.0098 | 2757 | c.-46 others(2768): Show |
LKAAEAR1 | ENSG00000171695.11 | transcript | ENST00000302096.5 | protein_coding | 4477 | chr20 | TogoVar | ||||||
SH2D4B_chr10_80532902_80651560 | 80627643 | T | TACAAAAT others(2750): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 | 1 | 322 | 0.0031 | 2757 | c.989 others(2774): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2750): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0363 | 1 | 378 | 0.0027 | 2757 | c.372 others(2772): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2750): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 378 | 0.0027 | 2757 | c.372 others(2772): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2750): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 378 | 0.0027 | 2757 | c.372 others(2772): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2750): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0344 | 1 | 378 | 0.0027 | 2757 | c.372 others(2772): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2750): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 378 | 0.0027 | 2757 | c.372 others(2772): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2750): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 378 | 0.0027 | 2757 | c.372 others(2772): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2750): Show |
intron_variant | MODIFIER | HG02273.hp1 HG03704.hp1 NA18964.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035a0001c0001t0001g0037a0001c0001t0001g0075others(5): Show | 8 | 378 | 0.0212 | 2757 | c.372 others(2772): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2750): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 378 | 0.0027 | 2757 | c.372 others(2772): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2750): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 378 | 0.0027 | 2757 | c.372 others(2772): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2750): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 378 | 0.0027 | 2757 | c.372 others(2772): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TBL1X_chrX_9460058_9724740 | 9488788 | A | AGAAATCT others(2750): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0004 | a0001c0004t0010 | a0001c0004t0010g0180 | 1 | 199 | 0.0050 | 2757 | c.-20 others(2778): Show |
TBL1X | ENSG00000101849.18 | transcript | ENST00000645353.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar |