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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MSR1_chr8_16102881_16197651 | 16189577 | A | ATATTTTA others(1146): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0002 | a0002c0002 | a0002c0002t0017 | a0002c0002t0017g0134 | 1 | 330 | 0.0030 | 1153 | c.-5+ others(1168): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
PPP1R14C_chr6_150138044_150255392 | 150167973 | T | TCCTTCTC others(1146): Show |
intron_variant | MODIFIER | HG03491.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159a0001c0001t0001g0160 | 2 | 312 | 0.0064 | 1153 | c.306 others(1172): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
RABL6_chr9_136802948_136846187 | 136803145 | G | GCCGGGGG others(1146): Show |
upstream_gene_variant | MODIFIER | HG03453.hp2 | a0002 | a0002c0026 | a0002c0026t0001 | a0002c0026t0001g0061 | 1 | 330 | 0.0030 | 1153 | c.-50 others(1164): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4802 | chr9 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89852615 | G | GATCCCAT others(1146): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0030 | 1 | 356 | 0.0028 | 1153 | c.646 others(1170): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SUFU_chr10_102498972_102638535 | 102637512 | A | ATATTATA others(1146): Show |
downstream_gene_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 268 | 0.0037 | 1153 | c.*73 others(1164): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3978 | chr10 | TogoVar | ||||||
WDR25_chr14_100371485_100535303 | 100526932 | A | ATCACCAC others(1146): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0134 | 1 | 228 | 0.0044 | 1153 | c.127 others(1170): Show |
WDR25 | ENSG00000176473.14 | transcript | ENST00000402312.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
WDR25_chr14_100371485_100535303 | 100526932 | A | ATCACCAC others(1146): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0102 | 1 | 228 | 0.0044 | 1153 | c.127 others(1170): Show |
WDR25 | ENSG00000176473.14 | transcript | ENST00000402312.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
WDR25_chr14_100371485_100535303 | 100526932 | A | ATCACCAC others(1146): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0144 | 1 | 228 | 0.0044 | 1153 | c.127 others(1170): Show |
WDR25 | ENSG00000176473.14 | transcript | ENST00000402312.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ZBTB34_chr9_126855639_126890878 | 126876197 | T | TCCCCCTT others(1146): Show |
intron_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 246 | 0.0041 | 1153 | c.-10 others(1170): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar | ||||||
ZNF605_chr12_132913306_132961306 | 132954429 | A | AGGAGAAG others(1146): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0060 | 1 | 126 | 0.0079 | 1153 | c.-28 others(1172): Show |
ZNF605 | ENSG00000196458.11 | transcript | ENST00000360187.9 | protein_coding | 1/4 | chr12 | TogoVar | ||||||
ADCY8_chr8_130775301_131045909 | 130897690 | T | TACACACC others(1147): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(56): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0007others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(11): Show | a0001c0002t0001g0021a0001c0002t0001g0042a0001c0002t0001g0044others(56): Show | 59 | 246 | 0.2398 | 1154 | c.191 others(1173): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 7/17 | chr8 | TogoVar | ||||||
ADCY8_chr8_130775301_131045909 | 130897690 | T | TACACACC others(1147): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0019 | 1 | 246 | 0.0041 | 1154 | c.191 others(1173): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 7/17 | chr8 | TogoVar | ||||||
ADCY8_chr8_130775301_131045909 | 130897690 | T | TACACACC others(1147): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0081 | 1 | 246 | 0.0041 | 1154 | c.191 others(1173): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 7/17 | chr8 | TogoVar | ||||||
AMER2_chr13_25156679_25177288 | 25159099 | T | TATATATA others(1147): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 HG01981.hp2 NA18747.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0019a0001c0001t0060 | a0001c0001t0006g0000a0001c0001t0019g0000a0001c0001t0060g0000 | 11 | 416 | 0.0264 | 1154 | c.*10 others(1167): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2579 | chr13 | TogoVar | ||||||
ANKLE2_chr12_132720503_132766832 | 132759515 | A | ATGTATGT others(1147): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0187 | 1 | 350 | 0.0029 | 1154 | c.181 others(1171): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 1/12 | chr12 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160652889 | T | TTATACAA others(1147): Show |
intron_variant | MODIFIER | HG02809.hp2 HG03098.hp2 |
a0002 | a0002c0003a0002c0004 | a0002c0003t0005a0002c0004t0004 | a0002c0003t0005g0214a0002c0004t0004g0185 | 2 | 236 | 0.0085 | 1154 | c.676 others(1171): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | ||||||
CENPM_chr22_41933737_41952152 | 41939808 | A | AAAAGAAA others(1147): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0022 | 1 | 258 | 0.0039 | 1154 | c.403 others(1169): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
CEP131_chr17_81184596_81227965 | 81207927 | A | ACCACACA others(1147): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0025 | a0025c0035 | a0025c0035t0003 | a0025c0035t0003g0314 | 1 | 384 | 0.0026 | 1154 | c.273 others(1169): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 3/25 | chr17 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1333412 | C | CACACCGG others(1147): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 370 | 0.0027 | 1154 | c.891 others(1169): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | ||||||
CTNNA3_chr10_65907523_67701195 | 66407288 | T | TAAAAAAA others(1147): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02896.hp2 HG02897.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0006a0001c0003t0008 | a0001c0001t0006g0007a0001c0001t0006g0008a0001c0003t0008g0002 | 3 | 46 | 0.0652 | 1154 | c.153 others(1175): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 11/17 | chr10 | TogoVar | ||||||
CYLC1_chrX_83856146_83891698 | 83878202 | A | AATATATA others(1147): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 2 | 208 | 0.0096 | 1154 | c.192 others(1173): Show |
CYLC1 | ENSG00000183035.13 | transcript | ENST00000329312.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1147): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0130 | a0001c0130t0001 | a0001c0130t0001g0175 | 1 | 252 | 0.0040 | 1154 | c.118 others(1173): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438445 | G | GGAGGAGG others(1147): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0033 | a0033c0074 | a0033c0074t0001 | a0033c0074t0001g0005 | 1 | 252 | 0.0040 | 1154 | c.118 others(1173): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89619226 | T | TCCCCTCC others(1147): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 250 | 0.0040 | 1154 | c.-10 others(1173): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(1147): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0245 | 1 | 312 | 0.0032 | 1154 | c.-41 others(1169): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KIF3B_chr20_32272651_32340011 | 32322993 | C | CATATTTA others(1147): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 242 | 0.0041 | 1154 | c.174 others(1173): Show |
KIF3B | ENSG00000101350.8 | transcript | ENST00000375712.4 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
LHPP_chr10_124456823_124619141 | 124507062 | A | AGGGGTAG others(1147): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0039 | 1 | 260 | 0.0039 | 1154 | c.624 others(1171): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LRP8_chr1_53237364_53333070 | 53283749 | C | CCGCTTAC others(1147): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0168 | 1 | 296 | 0.0034 | 1154 | c.368 others(1171): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | ||||||
NXN_chr17_794310_984776 | 841591 | A | AGCAGGTC others(1147): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0016 | 1 | 242 | 0.0041 | 1154 | c.361 others(1173): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
NXN_chr17_794310_984776 | 952303 | G | GGGGGGGC others(1147): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0093 | 1 | 242 | 0.0041 | 1154 | c.360 others(1173): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(1147): Show |
downstream_gene_variant | MODIFIER | NA18959.hp2 NA19088.hp1 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0002 | 2 | 456 | 0.0044 | 1154 | c.*31 others(1165): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | ||||||
PARP10_chr8_143972158_143991460 | 143981315 | G | GTGATGGT others(1147): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 380 | 0.0026 | 1154 | c.255 others(1173): Show |
PARP10 | ENSG00000178685.14 | transcript | ENST00000313028.12 | protein_coding | 9/10 | chr8 | TogoVar | ||||||
PNPLA3_chr22_43918805_43952582 | 43928709 | G | GTGCAAAG others(1147): Show |
intron_variant | MODIFIER | NA18992.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0193 | 1 | 420 | 0.0024 | 1154 | c.421 others(1167): Show |
PNPLA3 | ENSG00000100344.11 | transcript | ENST00000216180.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
RPH3AL_chr17_207389_357807 | 242555 | T | TTACCTTC others(1147): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0002 | a0002c0005 | a0002c0005t0023 | a0002c0005t0023g0125 | 1 | 133 | 0.0075 | 1154 | c.613 others(1171): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | ||||||
TBCD_chr17_82747065_82950914 | 82802101 | T | TGACAGGC others(1147): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0002 | a0001c0002t0022 | a0001c0002t0022g0232 | 1 | 318 | 0.0031 | 1154 | c.950 others(1171): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 9/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(1147): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 360 | 0.0028 | 1154 | c.*24 others(1165): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | ||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(1147): Show |
downstream_gene_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 360 | 0.0028 | 1154 | c.*24 others(1165): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | ||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(1147): Show |
downstream_gene_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 360 | 0.0028 | 1154 | c.*24 others(1165): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | ||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(1147): Show |
downstream_gene_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 360 | 0.0028 | 1154 | c.*24 others(1165): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | ||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(1147): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG00621.hp1 others(46): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0025others(2): Show | 49 | 360 | 0.1361 | 1154 | c.*24 others(1165): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | ||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(1147): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 360 | 0.0028 | 1154 | c.*24 others(1165): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | ||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(1147): Show |
downstream_gene_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 360 | 0.0028 | 1154 | c.*24 others(1165): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | ||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(1147): Show |
downstream_gene_variant | MODIFIER | HG02523.hp1 NA19011.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 360 | 0.0056 | 1154 | c.*24 others(1165): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | ||||||
VCX_chrX_7838171_7849143 | 7844261 | G | GGTGGTGT others(1147): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0001 | 1 | 341 | 0.0029 | 1154 | c.*24 others(1163): Show |
VCX | ENSG00000182583.13 | transcript | ENST00000688183.1 | protein_coding | 119 | chrX | TogoVar | ||||||
ZNF605_chr12_132913306_132961306 | 132954429 | A | AGGAGAAG others(1147): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0059 | 1 | 126 | 0.0079 | 1154 | c.-28 others(1173): Show |
ZNF605 | ENSG00000196458.11 | transcript | ENST00000360187.9 | protein_coding | 1/4 | chr12 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | ACACCCAC others(1148): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0024 | a0001c0024t0001 | a0001c0024t0001g0118 | 1 | 248 | 0.0040 | 1155 | c.387 others(1174): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | ACACCCAC others(1148): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0007 | a0001c0007t0019 | a0001c0007t0019g0026 | 1 | 248 | 0.0040 | 1155 | c.387 others(1174): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | ||||||
ADCY8_chr8_130775301_131045909 | 130897690 | T | TACACACC others(1148): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0108 | 1 | 246 | 0.0041 | 1155 | c.191 others(1174): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 7/17 | chr8 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 980298 | C | CTGCCCGG others(1148): Show |
intron_variant | MODIFIER | NA18998.hp1 NA18998.hp2 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0211a0001c0003t0002g0218 | 2 | 268 | 0.0075 | 1155 | c.604 others(1170): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ARHGAP19_chr10_97217179_97297637 | 97251448 | G | GGAAGGGG others(1148): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0005 | 1 | 242 | 0.0041 | 1155 | c.927 others(1172): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar |