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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(1933): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0143 | 1 | 32 | 0.0313 | 1940 | c.218 others(1955): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATACATA others(1933): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 HG03540.hp1 |
a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0013 | 2 | 9 | 0.2222 | 1940 | c.-20 others(1951): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
THAP4_chr2_241579405_241642158 | 241596529 | G | GGGCGCGG others(1933): Show |
intron_variant | MODIFIER | NA19006.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 67 | 0.0149 | 1940 | c.161 others(1959): Show |
THAP4 | ENSG00000176946.13 | transcript | ENST00000407315.6 | protein_coding | 5/5 | chr2 | TogoVar | |||||||
THAP4_chr2_241579405_241642158 | 241596529 | G | GGGCGCGG others(1933): Show |
intron_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0120 | 1 | 67 | 0.0149 | 1940 | c.161 others(1959): Show |
THAP4 | ENSG00000176946.13 | transcript | ENST00000407315.6 | protein_coding | 5/5 | chr2 | TogoVar | |||||||
THAP4_chr2_241579405_241642158 | 241596529 | G | GGGCGCGG others(1933): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 67 | 0.0149 | 1940 | c.161 others(1959): Show |
THAP4 | ENSG00000176946.13 | transcript | ENST00000407315.6 | protein_coding | 5/5 | chr2 | TogoVar | |||||||
THAP4_chr2_241579405_241642158 | 241596529 | G | GGGCGCGG others(1933): Show |
intron_variant | MODIFIER | HG00621.hp2 NA18941.hp2 NA19070.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0032 others(1): Show |
4 | 70 | 0.0571 | 1940 | c.161 others(1959): Show |
THAP4 | ENSG00000176946.13 | transcript | ENST00000407315.6 | protein_coding | 5/5 | chr2 | TogoVar | |||||||
THAP4_chr2_241579405_241642158 | 241596529 | G | GGGCGCGG others(1933): Show |
intron_variant | MODIFIER | HG00597.hp1 HG02027.hp2 HG02145.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0028 a0001c0001t0001g0064 a0001c0001t0001g0065 others(6): Show |
9 | 75 | 0.1200 | 1940 | c.161 others(1959): Show |
THAP4 | ENSG00000176946.13 | transcript | ENST00000407315.6 | protein_coding | 5/5 | chr2 | TogoVar | |||||||
THAP4_chr2_241579405_241642158 | 241596529 | G | GGGCGCGG others(1933): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0164 | 1 | 67 | 0.0149 | 1940 | c.161 others(1959): Show |
THAP4 | ENSG00000176946.13 | transcript | ENST00000407315.6 | protein_coding | 5/5 | chr2 | TogoVar | |||||||
USP12_chr13_27061156_27176811 | 27063931 | A | AGGGAGGA others(1933): Show |
downstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 62 | 0.0161 | 1940 | c.*53 others(1951): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2224 | chr13 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(1934): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0003 | a0003c0007 | a0003c0007t0004 | a0003c0007t0004g0284 | 1 | 76 | 0.0132 | 1941 | c.955 others(1958): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
INS_chr11_2154779_2166209 | 2161579 | G | GACCCCTG others(1934): Show |
upstream_gene_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 274 | 0.0036 | 1941 | c.-43 others(1950): Show |
INS | ENSG00000254647.7 | transcript | ENST00000381330.5 | protein_coding | 371 | chr11 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132173086 | T | TCTCTCCC others(1934): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0083 | 1 | 17 | 0.0588 | 1941 | c.*11 others(1962): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124507236 | G | GGTAGACA others(1934): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 207 | 0.0048 | 1941 | c.624 others(1958): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196811321 | T | TCCTTCCT others(1934): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0147 | 1 | 62 | 0.0161 | 1941 | c.773 others(1956): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TTTATACA others(1934): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004 | 1 | 8 | 0.1250 | 1941 | c.-20 others(1952): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
RIN3_chr14_92508781_92693994 | 92547347 | C | CTTTATTT others(1934): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0309 | 1 | 126 | 0.0079 | 1941 | c.45- others(1956): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
TH_chr11_2158929_2176815 | 2161579 | G | GACCCCTG others(1934): Show |
downstream_gene_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0004 | 1 | 294 | 0.0034 | 1941 | c.*26 others(1952): Show |
TH | ENSG00000180176.15 | transcript | ENST00000352909.8 | protein_coding | 2349 | chr11 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33827171 | A | ACCACAAC others(1935): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0159 | 1 | 125 | 0.0080 | 1942 | c.489 others(1961): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | |||||||
DCLK2_chr4_150073445_150262438 | 150250962 | C | CCACACCC others(1935): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0111 | 1 | 80 | 0.0125 | 1942 | c.207 others(1961): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
FAM120B_chr6_170301758_170412067 | 170399483 | A | AGAAAGGT others(1935): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03130.hp2 HG03540.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 others(1): Show |
4 | 207 | 0.0193 | 1942 | c.269 others(1961): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586503 | G | GGGGGAAA others(1935): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0279 | 1 | 234 | 0.0043 | 1942 | c.157 others(1959): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586548 | C | CGGGGGGG others(1935): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0109 | 1 | 261 | 0.0038 | 1942 | c.157 others(1959): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173044 | C | CCTCTCCT others(1935): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0002 | a0002c0016 | a0002c0016t0013 | a0002c0016t0013g0145 | 1 | 117 | 0.0085 | 1942 | c.*11 others(1963): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124507256 | G | GGGGGGGT others(1935): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0248 | 1 | 198 | 0.0051 | 1942 | c.624 others(1959): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
RAB40B_chr17_82649973_82703698 | 82671976 | C | CACATGCT others(1935): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01069.hp2 HG01071.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0083 a0001c0001t0002g0289 a0001c0001t0002g0290 others(2): Show |
5 | 135 | 0.0370 | 1942 | c.143 others(1959): Show |
RAB40B | ENSG00000141542.11 | transcript | ENST00000571995.6 | protein_coding | 1/5 | chr17 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 835481 | T | TGCAGCCC others(1936): Show |
downstream_gene_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0002 | 1 | 223 | 0.0045 | 1943 | c.*36 others(1954): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1329453 | A | ACTGCTTG others(1936): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0289 | 1 | 364 | 0.0027 | 1943 | c.108 others(1960): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 9/16 | chr5 | TogoVar | |||||||
DCLK2_chr4_150073445_150262438 | 150251253 | C | CACCCCCC others(1936): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 95 | 0.0105 | 1943 | c.207 others(1962): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084560 | A | AGTAGTGG others(1936): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0026 | a0026c0047 | a0026c0047t0001 | a0026c0047t0001g0267 | 1 | 158 | 0.0063 | 1943 | c.126 others(1960): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(1936): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0029 | 2 | 5 | 0.4000 | 1943 | c.972 others(1956): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
IHO1_chr3_49194498_49263106 | 49246130 | T | TGAGATGG others(1936): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 196 | 0.0051 | 1943 | c.532 others(1960): Show |
IHO1 | ENSG00000173421.17 | transcript | ENST00000452691.7 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173044 | C | CCTCTCCT others(1936): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0004 | a0004c0024 | a0004c0024t0006 | a0004c0024t0006g0150 | 1 | 117 | 0.0085 | 1943 | c.*11 others(1964): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PRPF31_chr19_54110754_54136713 | 54133733 | T | TCTCTCTC others(1936): Show |
downstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 223 | 0.0045 | 1943 | c.*23 others(1954): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2021 | chr19 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 356450 | G | GTCTTCAC others(1936): Show |
upstream_gene_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0003 | 1 | 71 | 0.0141 | 1943 | c.-39 others(1954): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 3644 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 356450 | G | GTCTTCAC others(1936): Show |
upstream_gene_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 71 | 0.0141 | 1943 | c.-39 others(1954): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 3644 | chr17 | TogoVar | |||||||
TMEM178B_chr7_141069064_141485380 | 141242373 | C | CTTTTTTT others(1936): Show |
intron_variant | MODIFIER | HG02897.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0035 a0001c0001t0015g0028 |
2 | 79 | 0.0253 | 1943 | c.496 others(1962): Show |
TMEM178B | ENSG00000261115.7 | transcript | ENST00000565468.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ZNF888_chr19_52899415_52928428 | 52914776 | C | CTTTCCTC others(1936): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0202 | 1 | 424 | 0.0024 | 1943 | c.142 others(1958): Show |
ZNF888 | ENSG00000213793.6 | transcript | ENST00000638862.2 | protein_coding | 4/4 | chr19 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(1937): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0002 | a0002c0012 | a0002c0012t0001 | a0002c0012t0001g0090 | 1 | 50 | 0.0200 | 1944 | c.147 others(1961): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNOT3_chr19_54132762_54160681 | 54133882 | T | TCTCTCTC others(1937): Show |
upstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 217 | 0.0046 | 1944 | c.-41 others(1955): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 3879 | chr19 | TogoVar | |||||||
ENTPD2_chr9_137043107_137059061 | 137050164 | G | GCCCTTAC others(1937): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0136 | 1 | 391 | 0.0026 | 1944 | c.102 others(1961): Show |
ENTPD2 | ENSG00000054179.12 | transcript | ENST00000355097.7 | protein_coding | 6/8 | chr9 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137323377 | A | ACCCACGA others(1937): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0006 | a0006c0005 | a0006c0005t0001 | a0006c0005t0001g0018 | 1 | 76 | 0.0132 | 1944 | c.218 others(1961): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 19/21 | chr9 | TogoVar | |||||||
FLG_chr1_152297165_152330239 | 152305958 | T | TTCTCCTG others(1937): Show |
disruptive_inframe_insertion | MODERATE | HG00099.hp2 HG02895.hp2 HG02897.hp1 |
a0017 | a0017c0048a0017c0077 | a0017c0048t0001a0017c0077t0001 | a0017c0048t0001g0046 a0017c0077t0001g0172 |
3 | 274 | 0.0109 | 1944 | c.892 others(1953): Show |
p.Gly others(1959): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 8999/12793 | 8927/12186 | 2976/4061 | chr1 | TogoVar | |||
FLG_chr1_152297165_152330239 | 152306380 | T | TTCTGGAT others(1937): Show |
conservative_inframe_insertion | MODERATE | HG02896.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 2 | 281 | 0.0071 | 1944 | c.850 others(1953): Show |
p.Arg others(1959): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 8577/12793 | 8505/12186 | 2835/4061 | chr1 | TogoVar | |||
JAKMIP3_chr10_132060946_132189858 | 132173041 | C | CCCCACTC others(1937): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0034 | a0001c0034t0001 | a0001c0034t0001g0021 | 1 | 95 | 0.0105 | 1944 | c.*11 others(1965): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | chr10 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132173041 | C | CCCCCTCT others(1937): Show |
intron_variant | MODIFIER | NA19081.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0077 | 1 | 95 | 0.0105 | 1944 | c.*11 others(1965): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | chr10 | TogoVar | |||||||
LRCH3_chr3_197786254_197893436 | 197877562 | A | ACAGTGAT others(1937): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0005 | a0001c0005t0035 | a0001c0005t0035g0039 | 1 | 258 | 0.0039 | 1944 | c.220 others(1963): Show |
LRCH3 | ENSG00000186001.14 | transcript | ENST00000425562.7 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MYT1L_chr2_1784113_2336275 | 1861947 | G | GTGTGCAG others(1937): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0017 | a0001c0017t0004 | a0001c0017t0004g0097 | 1 | 101 | 0.0099 | 1944 | c.271 others(1965): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 18/24 | chr2 | TogoVar | |||||||
NPDC1_chr9_137034463_137051177 | 137050164 | G | GCCCTTAC others(1937): Show |
upstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 391 | 0.0026 | 1944 | c.-41 others(1955): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 3988 | chr9 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196811197 | T | TCCTCCCT others(1937): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 87 | 0.0115 | 1944 | c.773 others(1959): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PNPLA7_chr9_137454952_137555402 | 137502709 | A | ACGAGGGG others(1937): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0009 | a0009c0030 | a0009c0030t0001 | a0009c0030t0001g0124 | 1 | 186 | 0.0054 | 1944 | c.147 others(1961): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar |