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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
WDR25_chr14_100371485_100535303 | 100526932 | A | ATCACCAC others(1752): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0037 | 1 | 21 | 0.0476 | 1759 | c.127 others(1776): Show |
WDR25 | ENSG00000176473.14 | transcript | ENST00000402312.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
WDR64_chr1_241647281_241807777 | 241675133 | T | TCCCTCCC others(1752): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0296 | 1 | 312 | 0.0032 | 1759 | c.483 others(1774): Show |
WDR64 | ENSG00000162843.18 | transcript | ENST00000437684.7 | protein_coding | 4/27 | chr1 | TogoVar | |||||||
COL18A1_chr21_45400165_45518720 | 45500881 | T | TGTGTGGG others(1753): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 272 | 0.0037 | 1760 | c.268 others(1779): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45500921 | T | TGTTGGGT others(1753): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00735.hp2 HG01106.hp1 others(13): Show |
a0001a0016 | a0001c0004a0001c0007a0001c0031others(4): Show | a0001c0004t0001a0001c0007t0002a0001c0031t0001others(4): Show | a0001c0004t0001g0059 a0001c0004t0001g0063 a0001c0004t0001g0064 others(13): Show |
16 | 251 | 0.0637 | 1760 | c.268 others(1779): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CYP4F11_chr19_15907377_15939529 | 15933801 | T | TGGGCAGA others(1753): Show |
intron_variant | MODIFIER | NA18941.hp1 | a0002 | a0002c0001 | a0002c0001t0016 | a0002c0001t0016g0165 | 1 | 189 | 0.0053 | 1760 | c.198 others(1775): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
DOCK1_chr10_126900428_127457516 | 126948076 | G | GTGGTGGT others(1753): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0096 | 1 | 125 | 0.0080 | 1760 | c.47- others(1777): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
FHOD3_chr18_36292713_36785220 | 36463416 | T | TAATATAT others(1753): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0070 | 1 | 47 | 0.0213 | 1760 | c.338 others(1779): Show |
FHOD3 | ENSG00000134775.16 | transcript | ENST00000590592.6 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCCATCTG others(1753): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0003 | a0003c0001 | a0003c0001t0001 | a0003c0001t0001g0214 | 1 | 12 | 0.0833 | 1760 | c.228 others(1777): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
RTL4_chrX_112078016_112462514 | 112310514 | A | AATATATG others(1753): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0114 | 1 | 18 | 0.0556 | 1760 | c.-28 others(1779): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
UCKL1_chr20_63934829_63961416 | 63948630 | G | GAGGGGTG others(1753): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 146 | 0.0068 | 1760 | c.114 others(1777): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
CDHR2_chr5_176544342_176600824 | 176591775 | G | GTTGTGAT others(1754): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02572.hp2 |
a0001a0006 | a0001c0041a0006c0019 | a0001c0041t0001a0006c0019t0001 | a0001c0041t0001g0252 a0006c0019t0001g0048 |
2 | 177 | 0.0113 | 1761 | c.373 others(1778): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45500921 | T | TGTTGGGT others(1754): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0011 | a0011c0049 | a0011c0049t0001 | a0011c0049t0001g0198 | 1 | 236 | 0.0042 | 1761 | c.268 others(1780): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DCDC1_chr11_30858603_31374739 | 30928614 | A | ATTACCAT others(1754): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0061 | 1 | 45 | 0.0222 | 1761 | c.289 others(1780): Show |
DCDC1 | ENSG00000170959.15 | transcript | ENST00000684477.1 | protein_coding | 22/38 | chr11 | TogoVar | |||||||
DCDC1_chr11_30858603_31374739 | 30928614 | A | ATTACCAT others(1754): Show |
intron_variant | MODIFIER | HG00741.hp1 NA19004.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0107 a0002c0003t0001g0110 |
2 | 46 | 0.0435 | 1761 | c.289 others(1780): Show |
DCDC1 | ENSG00000170959.15 | transcript | ENST00000684477.1 | protein_coding | 22/38 | chr11 | TogoVar | |||||||
DCDC1_chr11_30858603_31374739 | 30928614 | A | ATTACCAT others(1754): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0002 | a0002c0003t0001g0106 a0002c0003t0002g0095 |
2 | 46 | 0.0435 | 1761 | c.289 others(1780): Show |
DCDC1 | ENSG00000170959.15 | transcript | ENST00000684477.1 | protein_coding | 22/38 | chr11 | TogoVar | |||||||
DCDC1_chr11_30858603_31374739 | 30928614 | A | ATTACCAT others(1754): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 45 | 0.0222 | 1761 | c.289 others(1780): Show |
DCDC1 | ENSG00000170959.15 | transcript | ENST00000684477.1 | protein_coding | 22/38 | chr11 | TogoVar | |||||||
DCDC1_chr11_30858603_31374739 | 30928614 | A | ATTACCAT others(1754): Show |
intron_variant | MODIFIER | HG01891.hp1 HG03486.hp2 |
a0005a0014 | a0005c0005a0014c0026 | a0005c0005t0001a0014c0026t0001 | a0005c0005t0001g0146 a0014c0026t0001g0099 |
2 | 46 | 0.0435 | 1761 | c.289 others(1780): Show |
DCDC1 | ENSG00000170959.15 | transcript | ENST00000684477.1 | protein_coding | 22/38 | chr11 | TogoVar | |||||||
DCDC1_chr11_30858603_31374739 | 30928614 | A | ATTACCAT others(1754): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0019 | a0019c0022 | a0019c0022t0001 | a0019c0022t0001g0014 | 1 | 45 | 0.0222 | 1761 | c.289 others(1780): Show |
DCDC1 | ENSG00000170959.15 | transcript | ENST00000684477.1 | protein_coding | 22/38 | chr11 | TogoVar | |||||||
ENTREP2_chr15_29115252_29575979 | 29558678 | C | CCTCCCAC others(1754): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02630.hp1 |
a0003 | a0003c0007a0003c0030 | a0003c0007t0002a0003c0030t0047 | a0003c0007t0002g0121 a0003c0030t0047g0120 |
2 | 4 | 0.5000 | 1761 | c.219 others(1780): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
GPRIN1_chr5_176590802_176615156 | 176591775 | G | GTTGTGAT others(1754): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 209 | 0.0048 | 1761 | c.*50 others(1772): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 4026 | chr5 | TogoVar | |||||||
HPCAL1_chr2_10297904_10432604 | 10399271 | C | CCACCACC others(1754): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0308 | 1 | 227 | 0.0044 | 1761 | c.-25 others(1778): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HRNR_chr1_152207076_152229193 | 152216112 | G | GGAACCGG others(1754): Show |
disruptive_inframe_insertion | MODERATE | HG02280.hp1 HG02970.hp2 HG03098.hp1 others(2): Show |
a0001 | a0001c0015 | a0001c0015t0007 | a0001c0015t0007g0012 | 5 | 416 | 0.0120 | 1761 | c.551 others(1770): Show |
p.Ser others(1776): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 5592/9629 | 5516/8553 | 1839/2850 | chr1 | TogoVar | |||
KDM2B_chr12_121424096_121586023 | 121514828 | C | CTCCCCAC others(1754): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0010 | a0001c0010t0002 | a0001c0010t0002g0039 | 1 | 11 | 0.0909 | 1761 | c.104 others(1780): Show |
KDM2B | ENSG00000089094.20 | transcript | ENST00000377071.9 | protein_coding | 9/22 | chr12 | TogoVar | |||||||
KDM2B_chr12_121424096_121586023 | 121514828 | C | CTCCCCAC others(1754): Show |
intron_variant | MODIFIER | HG02723.hp2 HG03453.hp2 |
a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0098 a0001c0005t0002g0188 |
2 | 12 | 0.1667 | 1761 | c.104 others(1780): Show |
KDM2B | ENSG00000089094.20 | transcript | ENST00000377071.9 | protein_coding | 9/22 | chr12 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124471657 | A | ATTTTTTA others(1754): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0003 | a0003c0004 | a0003c0004t0007 | a0003c0004t0007g0006 | 1 | 80 | 0.0125 | 1761 | c.125 others(1778): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCCATCTG others(1754): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0113 | 1 | 12 | 0.0833 | 1761 | c.228 others(1778): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCCATCTG others(1754): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0162 | 1 | 12 | 0.0833 | 1761 | c.228 others(1778): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCCATCTG others(1754): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0003 | a0003c0001 | a0003c0001t0001 | a0003c0001t0001g0085 | 1 | 12 | 0.0833 | 1761 | c.228 others(1778): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCCATCTG others(1754): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(94): Show |
a0001a0002a0003others(15): Show | a0001c0003a0002c0002a0002c0009others(30): Show | a0001c0003t0001a0002c0002t0001a0002c0002t0002others(32): Show | a0001c0003t0001g0126 a0002c0002t0001g0063 a0002c0002t0001g0065 others(93): Show |
97 | 108 | 0.8981 | 1761 | c.228 others(1778): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCCATCTG others(1754): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0003 | a0003c0013 | a0003c0013t0001 | a0003c0013t0001g0153 | 1 | 12 | 0.0833 | 1761 | c.228 others(1778): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCCATCTG others(1754): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0022 | a0022c0086 | a0022c0086t0001 | a0022c0086t0001g0100 | 1 | 12 | 0.0833 | 1761 | c.228 others(1778): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCCATCTG others(1754): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 |
a0009 | a0009c0033 | a0009c0033t0001 | a0009c0033t0001g0004 | 2 | 13 | 0.1538 | 1761 | c.228 others(1778): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PRR5L_chr11_36291288_36470204 | 36309624 | C | CATGATGG others(1754): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00621.hp1 HG01175.hp1 others(6): Show |
a0001a0002a0010 | a0001c0001a0001c0002a0002c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0203 others(6): Show |
9 | 51 | 0.1765 | 1761 | c.-12 others(1782): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PRR5L_chr11_36291288_36470204 | 36309624 | C | CATGATGG others(1754): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0004 | a0001c0004t0021 | a0001c0004t0021g0270 | 1 | 43 | 0.0233 | 1761 | c.-12 others(1782): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
THEG_chr19_356747_381026 | 377008 | C | CCCCACCC others(1754): Show |
upstream_gene_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0334 | 1 | 326 | 0.0031 | 1761 | c.-10 others(1772): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 983 | chr19 | TogoVar | |||||||
UCKL1_chr20_63934829_63961416 | 63948580 | T | TGTGTGTG others(1754): Show |
intron_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 238 | 0.0042 | 1761 | c.114 others(1778): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
UCKL1_chr20_63934829_63961416 | 63948630 | G | GAGGGGTG others(1754): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 146 | 0.0068 | 1761 | c.114 others(1778): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
UCKL1_chr20_63934829_63961416 | 63948630 | G | GAGGGGTG others(1754): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 146 | 0.0068 | 1761 | c.114 others(1778): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
COL18A1_chr21_45400165_45518720 | 45500921 | T | TGTTGGGT others(1755): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0025 | a0001c0025t0002 | a0001c0025t0002g0147 | 1 | 236 | 0.0042 | 1762 | c.268 others(1781): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137355621 | G | GGAGGAAG others(1755): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 50 | 0.0200 | 1762 | c.757 others(1777): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322754 | A | ACGGAATA others(1755): Show |
upstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0169 | 1 | 251 | 0.0040 | 1762 | c.-23 others(1773): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2215 | chr21 | TogoVar | |||||||
KDM2B_chr12_121424096_121586023 | 121514828 | C | CTCCCCAC others(1755): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 11 | 0.0909 | 1762 | c.104 others(1781): Show |
KDM2B | ENSG00000089094.20 | transcript | ENST00000377071.9 | protein_coding | 9/22 | chr12 | TogoVar | |||||||
KDM2B_chr12_121424096_121586023 | 121514828 | C | CTCCCCAC others(1755): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02486.hp2 HG03471.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012 | a0001c0001t0002g0080 a0001c0001t0002g0099 a0001c0001t0002g0215 others(1): Show |
4 | 14 | 0.2857 | 1762 | c.104 others(1781): Show |
KDM2B | ENSG00000089094.20 | transcript | ENST00000377071.9 | protein_coding | 9/22 | chr12 | TogoVar | |||||||
KDM2B_chr12_121424096_121586023 | 121514828 | C | CTCCCCAC others(1755): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0081 | 1 | 11 | 0.0909 | 1762 | c.104 others(1781): Show |
KDM2B | ENSG00000089094.20 | transcript | ENST00000377071.9 | protein_coding | 9/22 | chr12 | TogoVar | |||||||
KDM2B_chr12_121424096_121586023 | 121514828 | C | CTCCCCAC others(1755): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0075 | 1 | 11 | 0.0909 | 1762 | c.104 others(1781): Show |
KDM2B | ENSG00000089094.20 | transcript | ENST00000377071.9 | protein_coding | 9/22 | chr12 | TogoVar | |||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCCATCTG others(1755): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0002 | a0002c0038 | a0002c0038t0001 | a0002c0038t0001g0234 | 1 | 12 | 0.0833 | 1762 | c.228 others(1779): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCCATCTG others(1755): Show |
intron_variant | MODIFIER | NA18965.hp1 NA18965.hp2 |
a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0173 a0002c0009t0001g0294 |
2 | 13 | 0.1538 | 1762 | c.228 others(1779): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
RUSC2_chr9_35485111_35566895 | 35495153 | T | TATAGTAT others(1755): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0285 | 1 | 217 | 0.0046 | 1762 | c.-93 others(1779): Show |
RUSC2 | ENSG00000198853.12 | transcript | ENST00000361226.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TAC4_chr17_49833300_49853069 | 49847694 | C | CACACACT others(1755): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 397 | 0.0025 | 1762 | c.105 others(1777): Show |
TAC4 | ENSG00000176358.16 | transcript | ENST00000436235.6 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
UCKL1_chr20_63934829_63961416 | 63948597 | G | GGCGTGTG others(1755): Show |
intron_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0256 | 1 | 348 | 0.0029 | 1762 | c.114 others(1779): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar |