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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AMER2_chr13_25156679_25177288 | 25159099 | T | TATATATA others(1042): Show |
downstream_gene_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0000 | 1 | 416 | 0.0024 | 1049 | c.*10 others(1062): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2579 | chr13 | TogoVar | ||||||
AMER2_chr13_25156679_25177288 | 25159099 | T | TATATATA others(1042): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0000 | 1 | 416 | 0.0024 | 1049 | c.*10 others(1062): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2579 | chr13 | TogoVar | ||||||
AMER2_chr13_25156679_25177288 | 25159103 | T | TATATAAT others(1042): Show |
downstream_gene_variant | MODIFIER | NA19074.hp2 | a0003 | a0003c0003 | a0003c0003t0025 | a0003c0003t0025g0000 | 1 | 416 | 0.0024 | 1049 | c.*10 others(1062): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2575 | chr13 | TogoVar | ||||||
ARL4A_chr7_12682633_12695958 | 12685527 | T | TAGAAACA others(1042): Show |
upstream_gene_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0002 | 1 | 428 | 0.0023 | 1049 | c.-22 others(1060): Show |
ARL4A | ENSG00000122644.13 | transcript | ENST00000651779.1 | protein_coding | 2105 | chr7 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9400231 | C | CCCTCCCC others(1042): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0059 | 1 | 210 | 0.0048 | 1049 | c.273 others(1066): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 25/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
C10orf67_chr10_23197696_23349797 | 23331540 | A | AAGGGAAA others(1042): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 326 | 0.0031 | 1049 | c.327 others(1066): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
CALN1_chr7_71774491_72417338 | 72114242 | T | TGGGAAGG others(1042): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0023 | 1 | 142 | 0.0070 | 1049 | c.245 others(1066): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | ||||||
CENPM_chr22_41933737_41952152 | 41939818 | A | AAGAAAGA others(1042): Show |
intron_variant | MODIFIER | HG01361.hp2 HG01952.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0016 | 2 | 258 | 0.0078 | 1049 | c.403 others(1064): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1929391 | A | ACAGGTCC others(1042): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0002 | a0002c0047 | a0002c0047t0009 | a0002c0047t0009g0271 | 1 | 278 | 0.0036 | 1049 | c.328 others(1066): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | ||||||
CLEC17A_chr19_14578084_14617035 | 14595973 | A | ATGTTGTT others(1042): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0094 | 1 | 364 | 0.0028 | 1049 | c.445 others(1064): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CWF19L2_chr11_107321360_107462825 | 107410298 | T | TGAAAGAA others(1042): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0388 | 1 | 392 | 0.0026 | 1049 | c.161 others(1068): Show |
CWF19L2 | ENSG00000152404.16 | transcript | ENST00000282251.10 | protein_coding | 10/17 | chr11 | TogoVar | ||||||
DYSF_chr2_71448561_71691763 | 71618373 | A | ATGTGTGG others(1042): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00642.hp2 others(22): Show |
a0001a0002a0011others(1): Show | a0001c0002a0001c0005a0001c0012others(8): Show | a0001c0002t0001a0001c0002t0002a0001c0005t0001others(10): Show | a0001c0002t0001g0041a0001c0002t0001g0094a0001c0002t0001g0124others(22): Show | 25 | 192 | 0.1302 | 1049 | c.441 others(1068): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 40/54 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DYSF_chr2_71448561_71691763 | 71618373 | A | ATGTGTGG others(1042): Show |
intron_variant | MODIFIER | HG01934.hp2 NA18948.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0122a0001c0002t0002g0151 | 2 | 192 | 0.0104 | 1049 | c.441 others(1068): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 40/54 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DYSF_chr2_71461699_71691763 | 71618373 | A | ATGTGTGG others(1042): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00642.hp1 others(23): Show |
a0001a0002a0005others(2): Show | a0001c0002a0001c0005a0001c0013others(9): Show | a0001c0002t0001a0001c0002t0002a0001c0005t0001others(13): Show | a0001c0002t0001g0046a0001c0002t0001g0067a0001c0002t0001g0073others(23): Show | 26 | 208 | 0.1250 | 1049 | c.446 others(1068): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DYSF_chr2_71461699_71691763 | 71618373 | A | ATGTGTGG others(1042): Show |
intron_variant | MODIFIER | HG01934.hp1 NA18948.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0040a0001c0002t0002g0181 | 2 | 208 | 0.0096 | 1049 | c.446 others(1068): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GAS6_chr13_113815549_113869076 | 113824256 | C | CCGCGGTC others(1042): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0139 | 1 | 143 | 0.0070 | 1049 | c.147 others(1066): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 12/14 | chr13 | TogoVar | ||||||
GAS6_chr13_113815549_113869076 | 113824256 | C | CCGCGGTC others(1042): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0032 | 1 | 143 | 0.0070 | 1049 | c.147 others(1066): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 12/14 | chr13 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9400231 | C | CCCTCCCC others(1042): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0224 | a0001c0001t0224g0244 | 1 | 276 | 0.0036 | 1049 | c.*66 others(1060): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3243 | chr2 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(1042): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0094 | 1 | 312 | 0.0032 | 1049 | c.-41 others(1064): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KIF27_chr9_83829099_83926432 | 83848086 | T | TATATATG others(1042): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0020 | 1 | 346 | 0.0029 | 1049 | c.355 others(1068): Show |
KIF27 | ENSG00000165115.15 | transcript | ENST00000297814.7 | protein_coding | 16/17 | chr9 | TogoVar | ||||||
LDLRAD3_chr11_35939062_36237136 | 36055110 | A | AGGGATAG others(1042): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01934.hp1 HG01952.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0002t0001a0002c0003t0001 | a0001c0001t0002g0107a0001c0001t0002g0171a0001c0001t0002g0192others(2): Show | 5 | 236 | 0.0212 | 1049 | c.193 others(1068): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | ||||||
LDLRAD3_chr11_35939062_36237136 | 36055110 | A | AGGGATAG others(1042): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 236 | 0.0042 | 1049 | c.193 others(1068): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | ||||||
LDLRAD3_chr11_35939062_36237136 | 36055110 | A | AGGGATAG others(1042): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03130.hp1 HG03225.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0008a0001c0002t0007 | a0001c0001t0005g0200a0001c0001t0008g0199a0001c0002t0007g0215 | 3 | 236 | 0.0127 | 1049 | c.193 others(1068): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | ||||||
LDLRAD3_chr11_35939062_36237136 | 36055112 | A | AGGGATAG others(1042): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073a0001c0001t0001g0074 | 2 | 236 | 0.0085 | 1049 | c.193 others(1068): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124471472 | T | TATTTTAT others(1042): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0003 | a0003c0003 | a0003c0003t0009 | a0003c0003t0009g0257 | 1 | 260 | 0.0039 | 1049 | c.125 others(1066): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | chr10 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 923003 | G | GTTGGTGT others(1042): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0010 | a0010c0047 | a0010c0047t0010 | a0010c0047t0010g0281 | 1 | 294 | 0.0034 | 1049 | c.514 others(1068): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | ||||||
MICALL2_chr7_1429359_1464470 | 1446452 | G | GGGGGGAG others(1042): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 280 | 0.0036 | 1049 | c.641 others(1064): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 5/16 | chr7 | TogoVar | ||||||
MSR1_chr8_16102881_16197651 | 16189577 | A | ATATTTTA others(1042): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0141 | 1 | 330 | 0.0030 | 1049 | c.-5+ others(1064): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
MSR1_chr8_16102881_16197651 | 16189577 | A | ATATTTTA others(1042): Show |
intron_variant | MODIFIER | HG01975.hp1 HG03516.hp1 HG03669.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(1): Show | a0002c0002t0001g0093a0002c0002t0001g0119a0002c0002t0001g0122others(5): Show | 8 | 330 | 0.0242 | 1049 | c.-5+ others(1064): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
NME8_chr7_37843597_37905397 | 37848245 | G | GAAGAAGA others(1042): Show |
upstream_gene_variant | MODIFIER | HG03209.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139a0001c0001t0001g0143 | 2 | 388 | 0.0052 | 1049 | c.-72 others(1058): Show |
NME8 | ENSG00000086288.12 | transcript | ENST00000199447.9 | protein_coding | 351 | chr7 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196811297 | C | CTTCCCTC others(1042): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0060 | 1 | 178 | 0.0056 | 1049 | c.773 others(1064): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PGBD5_chr1_230309490_230431332 | 230332040 | A | ACACACCA others(1042): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp2 others(132): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(67): Show | a0001c0001t0002g0054a0001c0001t0002g0103a0001c0001t0002g0186others(132): Show | 135 | 288 | 0.4688 | 1049 | c.127 others(1066): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 5/6 | chr1 | TogoVar | ||||||
PGBD5_chr1_230309490_230431332 | 230332040 | A | ACACACCA others(1042): Show |
intron_variant | MODIFIER | HG02109.hp2 HG03139.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0044a0001c0001t0089a0001c0001t0113 | a0001c0001t0044g0004a0001c0001t0089g0134a0001c0001t0113g0133 | 3 | 288 | 0.0104 | 1049 | c.127 others(1066): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 5/6 | chr1 | TogoVar | ||||||
PGBD5_chr1_230309490_230431332 | 230332040 | A | ACACACCA others(1042): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03486.hp1 HG03540.hp1 |
a0001 | a0001c0006 | a0001c0006t0023a0001c0006t0038a0001c0006t0093 | a0001c0006t0023g0061a0001c0006t0038g0028a0001c0006t0093g0060 | 3 | 288 | 0.0104 | 1049 | c.127 others(1066): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 5/6 | chr1 | TogoVar | ||||||
PGBD5_chr1_230309490_230431332 | 230332040 | A | ACACACCA others(1042): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0002 | a0001c0002t0096 | a0001c0002t0096g0202 | 1 | 288 | 0.0035 | 1049 | c.127 others(1066): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 5/6 | chr1 | TogoVar | ||||||
PGBD5_chr1_230309490_230431332 | 230332040 | A | ACACACCA others(1042): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0060 | a0001c0001t0060g0044 | 1 | 288 | 0.0035 | 1049 | c.127 others(1066): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 5/6 | chr1 | TogoVar | ||||||
PGBD5_chr1_230309490_230431332 | 230332040 | A | ACACACCA others(1042): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02647.hp2 HG02895.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0028a0001c0001t0042a0001c0001t0090 | a0001c0001t0028g0018a0001c0001t0028g0051a0001c0001t0042g0003others(1): Show | 4 | 288 | 0.0139 | 1049 | c.127 others(1066): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 5/6 | chr1 | TogoVar | ||||||
TTLL8_chr22_50013575_50063298 | 50028754 | C | CCCCCACA others(1042): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0087 | 1 | 224 | 0.0045 | 1049 | c.225 others(1068): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168975324 | T | TATAAATA others(1043): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0258 | 1 | 306 | 0.0033 | 1050 | c.130 others(1069): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168975324 | T | TATAAATA others(1043): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 | 1 | 306 | 0.0033 | 1050 | c.130 others(1069): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133111597 | G | GGGCACCT others(1043): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0078 | a0001c0001t0078g0080 | 1 | 368 | 0.0027 | 1050 | c.401 others(1067): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADGRA1_chr10_133082924_133136675 | 133111744 | A | ACCAGACC others(1043): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0027 | 1 | 368 | 0.0027 | 1050 | c.401 others(1067): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADGRA1_chr10_133082924_133136675 | 133111751 | A | AACCTGCC others(1043): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0199 | 1 | 368 | 0.0027 | 1050 | c.401 others(1067): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADGRA1_chr10_133082924_133136675 | 133111893 | A | ACACCTCC others(1043): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0159 | 1 | 368 | 0.0027 | 1050 | c.401 others(1067): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADGRA1_chr10_133082924_133136675 | 133112019 | A | ACACCTCC others(1043): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0003 | a0001c0003t0074 | a0001c0003t0074g0085 | 1 | 368 | 0.0027 | 1050 | c.401 others(1067): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADGRA1_chr10_133082924_133136675 | 133112019 | A | ACACCTCC others(1043): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0027 | 1 | 368 | 0.0027 | 1050 | c.401 others(1067): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
AKAP17A_chrX_1586604_1607520 | 1596431 | C | CTCCTCCT others(1043): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0063 | 1 | 151 | 0.0066 | 1050 | c.911 others(1065): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ANKLE2_chr12_132720503_132766832 | 132759517 | A | ATATGATA others(1043): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0316 | 1 | 350 | 0.0029 | 1050 | c.181 others(1067): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 1/12 | chr12 | TogoVar | ||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1043): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 | 1 | 238 | 0.0042 | 1050 | c.787 others(1065): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | ||||||
ARL4A_chr7_12682633_12695958 | 12685527 | T | TAGAAACA others(1043): Show |
upstream_gene_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0002 | 1 | 428 | 0.0023 | 1050 | c.-22 others(1061): Show |
ARL4A | ENSG00000122644.13 | transcript | ENST00000651779.1 | protein_coding | 2105 | chr7 | TogoVar |