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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DMRT1_chr9_836697_974090 | 871593 | TGCCTCCC others(126): Show |
T | intron_variant | MODIFIER | HG01884.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010 | a0001c0001t0004g0065 a0001c0001t0010g0259 |
2 | 306 | 0.0065 | -133 | c.539 others(19): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DOK6_chr18_69395888_69854087 | 69434507 | GTGGCCAG others(126): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(113): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(88): Show | a0001c0001t0001g0060 a0001c0001t0001g0100 a0001c0001t0001g0121 others(113): Show |
116 | 170 | 0.6824 | -133 | c.66+ others(17): Show |
DOK6 | ENSG00000206052.11 | transcript | ENST00000382713.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
EAF1_chr3_15422598_15447613 | 15446247 | GCTCACAT others(126): Show |
G | downstream_gene_variant | MODIFIER | HG01081.hp1 HG02970.hp2 |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0024a0003c0008t0024 | a0001c0001t0024g0105 a0003c0008t0024g0106 |
2 | 418 | 0.0048 | -133 | c.*70 others(11): Show |
EAF1 | ENSG00000144597.14 | transcript | ENST00000396842.7 | protein_coding | 3635 | chr3 | TogoVar | |||||||
ELP2_chr18_36124899_36185557 | 36181179 | GCAGGGCC others(126): Show |
G | downstream_gene_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0070 | a0001c0001t0070g0190 | 1 | 378 | 0.0027 | -133 | c.*65 others(11): Show |
ELP2 | ENSG00000134759.14 | transcript | ENST00000358232.11 | protein_coding | 623 | chr18 | TogoVar | |||||||
ERC1_chr12_986223_1500931 | 1087772 | ATTATTAT others(126): Show |
A | intron_variant | MODIFIER | HG02886.hp1 NA19030.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0061a0002c0002t0089 | a0001c0001t0061g0153 a0002c0002t0089g0037 |
2 | 162 | 0.0124 | -133 | c.108 others(19): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
FBRSL1_chr12_132485151_132590188 | 132564670 | TATTTTTA others(126): Show |
T | intron_variant | MODIFIER | NA19066.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0299 | 1 | 348 | 0.0029 | -133 | c.646 others(17): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 5/18 | chr12 | TogoVar | |||||||
FBXO42_chr1_16241840_16357480 | 16345615 | CGAGGCAG others(126): Show |
C | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0162 | 1 | 294 | 0.0034 | -133 | c.-18 others(17): Show |
FBXO42 | ENSG00000037637.11 | transcript | ENST00000375592.8 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
FGR_chr1_27607064_27640185 | 27608853 | TGTGTGTG others(126): Show |
T | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00733.hp1 HG01074.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 a0001c0001t0001g0110 a0001c0001t0001g0197 others(2): Show |
5 | 278 | 0.0180 | -133 | c.*39 others(11): Show |
FGR | ENSG00000000938.13 | transcript | ENST00000374005.8 | protein_coding | 3210 | chr1 | TogoVar | |||||||
FLAD1_chr1_154978344_154998111 | 154996962 | GGGGTTTC others(126): Show |
G | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00673.hp2 NA19003.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0107 a0001c0001t0001g0209 |
3 | 284 | 0.0106 | -133 | c.*39 others(11): Show |
FLAD1 | ENSG00000160688.19 | transcript | ENST00000292180.8 | protein_coding | 3852 | chr1 | TogoVar | |||||||
GABRG3_chr15_26966181_27546984 | 27388113 | GAAGGAAG others(126): Show |
G | intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0047 | 1 | 92 | 0.0109 | -133 | c.574 others(19): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77259065 | CATGGTGG others(126): Show |
C | intron_variant | MODIFIER | NA20300.hp1 | a0002 | a0002c0003 | a0002c0003t0020 | a0002c0003t0020g0217 | 1 | 366 | 0.0027 | -133 | c.732 others(17): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GAS7_chr17_9905606_10203606 | 10181099 | CGCCTGTA others(126): Show |
C | intron_variant | MODIFIER | HG01106.hp1 HG01952.hp2 HG02622.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0097 a0001c0001t0001g0208 a0001c0001t0002g0195 others(1): Show |
4 | 218 | 0.0184 | -133 | c.183 others(19): Show |
GAS7 | ENSG00000007237.19 | transcript | ENST00000432992.7 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
GLB1L3_chr11_134271379_134324564 | 134308238 | TCACCATC others(126): Show |
T | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0364 | 1 | 422 | 0.0024 | -133 | c.961 others(17): Show |
GLB1L3 | ENSG00000166105.16 | transcript | ENST00000431683.7 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GLB1L3_chr11_134271379_134324564 | 134308253 | TCACCACC others(126): Show |
T | intron_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0260 | 1 | 422 | 0.0024 | -133 | c.961 others(17): Show |
GLB1L3 | ENSG00000166105.16 | transcript | ENST00000431683.7 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GNAL_chr18_11684264_11890685 | 11879993 | TCACGCCT others(126): Show |
T | intron_variant | MODIFIER | HG03490.hp1 HG03492.hp1 HG03654.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0020a0001c0001t0146a0002c0002t0044 | a0001c0001t0020g0116 a0001c0001t0020g0118 a0001c0001t0146g0233 others(1): Show |
4 | 248 | 0.0161 | -133 | c.123 others(17): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000334049.11 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GNAL_chr18_11747085_11890685 | 11879993 | TCACGCCT others(126): Show |
T | intron_variant | MODIFIER | HG00673.hp2 HG03490.hp1 HG03492.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0145a0001c0001t0168 | a0001c0001t0011g0045 a0001c0001t0011g0146 a0001c0001t0011g0149 others(2): Show |
5 | 284 | 0.0176 | -133 | c.100 others(17): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000423027.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GPR35_chr2_240620480_240638159 | 240623293 | GAAACAGG others(126): Show |
G | upstream_gene_variant | MODIFIER | NA18906.hp2 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0137 | 1 | 400 | 0.0025 | -133 | c.-22 others(11): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 2186 | chr2 | TogoVar | |||||||
GPR35_chr2_240620480_240638159 | 240623329 | CGCAAACA others(126): Show |
C | upstream_gene_variant | MODIFIER | HG01167.hp2 HG02896.hp1 HG02897.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0026 a0002c0002t0001g0144 |
4 | 400 | 0.0100 | -133 | c.-22 others(11): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 2150 | chr2 | TogoVar | |||||||
GRM7_chr3_6856115_7746533 | 7730014 | GCAGGCGC others(126): Show |
G | intron_variant | MODIFIER | HG02280.hp2 HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0003a0001c0002t0006 | a0001c0001t0006g0010 a0001c0002t0003g0017 a0001c0002t0006g0014 |
3 | 80 | 0.0375 | -133 | c.269 others(21): Show |
GRM7 | ENSG00000196277.17 | transcript | ENST00000357716.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
IL3RA_chrX_1331785_1387689 | 1367399 | TGCGCGGG others(126): Show |
T | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0056 | 1 | 115 | 0.0087 | -133 | c.874 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IQCG_chr3_197884077_197964991 | 197908238 | GGTCTGAA others(126): Show |
G | intron_variant | MODIFIER | HG02559.hp1 HG02572.hp2 HG02970.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0124 a0001c0003t0003g0127 a0001c0003t0003g0128 others(1): Show |
4 | 280 | 0.0143 | -133 | c.963 others(17): Show |
IQCG | ENSG00000114473.14 | transcript | ENST00000265239.11 | protein_coding | 9/11 | chr3 | TogoVar | |||||||
IQCG_chr3_197884077_197964991 | 197908333 | TCCTCCCA others(126): Show |
T | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248 | 1 | 280 | 0.0036 | -133 | c.963 others(17): Show |
IQCG | ENSG00000114473.14 | transcript | ENST00000265239.11 | protein_coding | 9/11 | chr3 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132159924 | GGGGGGTC others(126): Show |
G | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG00597.hp2 others(9): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0015a0001c0040others(5): Show | a0001c0001t0002a0001c0015t0028a0001c0040t0002others(6): Show | a0001c0001t0002g0114 a0001c0015t0028g0017 a0001c0040t0002g0025 others(9): Show |
12 | 158 | 0.0760 | -133 | c.222 others(19): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132160764 | GTCTCTTC others(126): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG02280.hp1 HG02647.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0019a0001c0022others(2): Show | a0001c0001t0003a0001c0019t0015a0001c0022t0002others(2): Show | a0001c0001t0003g0097 a0001c0019t0015g0085 a0001c0022t0002g0080 others(2): Show |
5 | 158 | 0.0317 | -133 | c.222 others(19): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | chr10 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132160786 | GGGGGGGG others(126): Show |
G | intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0013 | a0001c0013t0036 | a0001c0013t0036g0005 | 1 | 158 | 0.0063 | -133 | c.222 others(19): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 168001580 | CGTGGCCT others(126): Show |
C | intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 375 | 0.0027 | -133 | c.-36 others(17): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
LARGE1_chr22_33267509_33925476 | 33680377 | GCTTTATT others(126): Show |
G | intron_variant | MODIFIER | HG03491.hp2 NA19068.hp2 |
a0001 | a0001c0002a0001c0009 | a0001c0002t0001a0001c0009t0009 | a0001c0002t0001g0056 a0001c0009t0009g0049 |
2 | 110 | 0.0182 | -133 | c.107 others(19): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 2/14 | chr22 | TogoVar | |||||||
LENEP_chr1_154988586_154999315 | 154996962 | GGGGTTTC others(126): Show |
G | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00673.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0000 a0001c0001t0002g0000 |
8 | 308 | 0.0260 | -133 | c.*31 others(11): Show |
LENEP | ENSG00000163352.6 | transcript | ENST00000392487.2 | protein_coding | 2648 | chr1 | TogoVar | |||||||
MEAK7_chr16_84471355_84509659 | 84479390 | GCTAATGC others(126): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00423.hp1 HG02615.hp2 HG03017.hp2 others(3): Show |
a0001a0002a0004 | a0001c0001a0001c0005a0002c0003others(1): Show | a0001c0001t0150a0001c0005t0072a0001c0005t0149others(3): Show | a0001c0001t0150g0106 a0001c0005t0072g0043 a0001c0005t0149g0296 others(3): Show |
6 | 468 | 0.0128 | -133 | c.*39 others(9): Show |
MEAK7 | ENSG00000140950.16 | transcript | ENST00000343629.11 | protein_coding | 8/8 | 390 | chr16 | TogoVar | ||||||
MIB1_chr18_21735792_21875953 | 21874783 | CAAAAGAG others(126): Show |
C | downstream_gene_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0008 | 1 | 308 | 0.0033 | -133 | c.*10 others(13): Show |
MIB1 | ENSG00000101752.13 | transcript | ENST00000261537.7 | protein_coding | 3831 | chr18 | TogoVar | |||||||
MORN5_chr9_122154908_122205083 | 122185417 | CGGGGTTT others(126): Show |
C | intron_variant | MODIFIER | HG03017.hp2 HG03491.hp2 HG03688.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0023 a0001c0002t0001g0102 a0001c0002t0001g0108 |
4 | 388 | 0.0103 | -133 | c.439 others(19): Show |
MORN5 | ENSG00000185681.13 | transcript | ENST00000373764.8 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MPPE1_chr18_11877622_11913317 | 11879993 | TCACGCCT others(126): Show |
T | downstream_gene_variant | MODIFIER | HG00673.hp2 HG03490.hp2 HG03492.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0143a0002c0002t0028a0002c0002t0095others(1): Show | a0001c0001t0143g0059 a0002c0002t0028g0010 a0002c0002t0028g0076 others(2): Show |
6 | 456 | 0.0132 | -133 | c.*43 others(11): Show |
MPPE1 | ENSG00000154889.17 | transcript | ENST00000588072.6 | protein_coding | 2628 | chr18 | TogoVar | |||||||
MTHFD1_chr14_64383353_64465025 | 64464171 | AACTGGGA others(126): Show |
A | downstream_gene_variant | MODIFIER | HG01192.hp2 HG01255.hp1 HG02572.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0082 a0002c0002t0001g0117 a0002c0002t0001g0275 others(3): Show |
6 | 342 | 0.0175 | -133 | c.*44 others(11): Show |
MTHFD1 | ENSG00000100714.18 | transcript | ENST00000652337.1 | protein_coding | 4147 | chr14 | TogoVar | |||||||
MYOM2_chr8_2040046_2150456 | 2085650 | CACTGTCG others(126): Show |
C | intron_variant | MODIFIER | HG03139.hp2 HG03516.hp2 NA20300.hp2 |
a0020 | a0020c0027 | a0020c0027t0001 | a0020c0027t0001g0088 a0020c0027t0001g0090 a0020c0027t0001g0091 |
3 | 403 | 0.0074 | -133 | c.164 others(17): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2086056 | GTGATCTC others(126): Show |
G | intron_variant | MODIFIER | NA18969.hp1 NA19074.hp1 |
a0005 | a0005c0005 | a0005c0005t0004 | a0005c0005t0004g0281 a0005c0005t0004g0287 |
2 | 403 | 0.0050 | -133 | c.164 others(17): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
NLRP8_chr19_55942832_55993629 | 55993474 | CCCCTCCC others(126): Show |
C | downstream_gene_variant | MODIFIER | NA19007.hp1 | a0000 | a0000c0003 | a0000c0003t0040 | a0000c0003t0040g0147 | 1 | 350 | 0.0029 | -133 | c.*55 others(11): Show |
NLRP8 | ENSG00000179709.8 | transcript | ENST00000291971.7 | protein_coding | 4846 | chr19 | TogoVar | |||||||
NOC4L_chr12_132139457_132157468 | 132148924 | ACCCCTAA others(126): Show |
A | intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 294 | 0.0034 | -133 | c.901 others(14): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NRXN1_chr2_49913503_51037132 | 50022022 | GGTATTTT others(126): Show |
G | intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0115 | 1 | 116 | 0.0086 | -133 | c.412 others(21): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 21/22 | chr2 | TogoVar | |||||||
NXN_chr17_794310_984776 | 835684 | GAAACACC others(126): Show |
G | intron_variant | MODIFIER | HG00544.hp2 HG00642.hp1 HG00733.hp1 others(54): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0076 others(54): Show |
57 | 242 | 0.2355 | -133 | c.361 others(17): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 949430 | CCTGCCTC others(126): Show |
C | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0007 | 1 | 242 | 0.0041 | -133 | c.360 others(19): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
OR4E2_chr14_21648835_21672642 | 21672322 | CCCTGGCA others(126): Show |
C | downstream_gene_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0007 | 1 | 458 | 0.0022 | -133 | c.*62 others(11): Show |
OR4E2 | ENSG00000221977.3 | transcript | ENST00000641524.1 | protein_coding | 4681 | chr14 | TogoVar | |||||||
OXLD1_chr17_81660036_81671605 | 81664638 | AGCTGGGA others(126): Show |
A | downstream_gene_variant | MODIFIER | HG01069.hp2 HG01934.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 402 | 0.0050 | -133 | c.*43 others(9): Show |
OXLD1 | ENSG00000204237.5 | transcript | ENST00000374741.4 | protein_coding | 397 | chr17 | TogoVar | |||||||
P2RX5_chr17_3668227_3701155 | 3686368 | CCCGCCCC others(126): Show |
C | intron_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0331 | 1 | 362 | 0.0028 | -133 | c.981 others(17): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | |||||||
PDZD2_chr5_31634131_32115932 | 31926336 | GGCCAACA others(126): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG03486.hp2 |
a0001a0006 | a0001c0001a0006c0015 | a0001c0001t0001a0006c0015t0046 | a0001c0001t0001g0186 a0006c0015t0046g0005 |
2 | 216 | 0.0093 | -133 | c.477 others(19): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDZRN4_chr12_41183320_41579745 | 41402327 | CACTGTGT others(126): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG03017.hp1 |
a0002a0005 | a0002c0024a0005c0008 | a0002c0024t0002a0005c0008t0001 | a0002c0024t0002g0133 a0002c0024t0002g0134 a0005c0008t0001g0165 |
3 | 206 | 0.0146 | -133 | c.844 others(21): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | chr12 | TogoVar | |||||||
PHACTR1_chr6_12711767_13292837 | 13231252 | GAGAAAGA others(126): Show |
G | intron_variant | MODIFIER | HG01433.hp2 HG03831.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0041 a0001c0001t0003g0098 |
2 | 108 | 0.0185 | -133 | c.139 others(19): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 13231284 | GAGAAAGA others(126): Show |
G | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0045 | 1 | 108 | 0.0093 | -133 | c.139 others(19): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 13231288 | AAGAGAGA others(126): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01175.hp1 HG01255.hp1 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0025 others(23): Show |
26 | 108 | 0.2407 | -133 | c.139 others(19): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 13231326 | AGAAGGAA others(126): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG01192.hp2 HG01433.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0021 a0001c0001t0002g0040 a0001c0001t0002g0056 others(3): Show |
6 | 108 | 0.0556 | -133 | c.139 others(19): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHYHD1_chr9_128915982_128947038 | 128932619 | GGCCTCCC others(126): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(138): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0005a0001c0006others(3): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(15): Show | a0001c0002t0001g0004 a0001c0002t0001g0006 a0001c0002t0001g0012 others(117): Show |
141 | 404 | 0.3490 | -133 | c.193 others(16): Show |
PHYHD1 | ENSG00000175287.19 | transcript | ENST00000372592.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |