| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ZBTB42_chr14_104796101_104809712 | 104808262 | G | GAGCACCC others(715): Show |
downstream_gene_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0000 | 1 | 99 | 0.0101 | 722 | c.*57 others(733): Show |
ZBTB42 | ENSG00000179627.10 | transcript | ENST00000342537.8 | protein_coding | 3551 | chr14 | TogoVar | ||||||
| ZBTB42_chr14_104796101_104809712 | 104808376 | C | CAGCACCC others(715): Show |
downstream_gene_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 1 | 99 | 0.0101 | 722 | c.*59 others(733): Show |
ZBTB42 | ENSG00000179627.10 | transcript | ENST00000342537.8 | protein_coding | 3665 | chr14 | TogoVar | ||||||
| ZNF627_chr19_11592483_11624161 | 11613145 | C | CCCTCCCC others(715): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 | 1 | 322 | 0.0031 | 722 | c.4-1 others(735): Show |
ZNF627 | ENSG00000198551.10 | transcript | ENST00000361113.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| ARHGAP19_chr10_97217179_97297637 | 97251789 | G | GAAGGGAA others(716): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0021 | 1 | 242 | 0.0041 | 723 | c.927 others(740): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | ||||||
| ARHGEF10_chr8_1818926_1963641 | 1955106 | C | CAGGTGCA others(716): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0002 | a0002c0033 | a0002c0033t0001 | a0002c0033t0001g0257 | 1 | 363 | 0.0028 | 723 | c.352 others(742): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 28/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| CAMK1D_chr10_12344547_12840545 | 12776122 | A | AGACTGTG others(716): Show |
intron_variant | MODIFIER | HG01109.hp2 NA18948.hp1 NA18955.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0096a0001c0001t0100others(1): Show | a0001c0001t0019g0039a0001c0001t0096g0098a0001c0001t0100g0135others(1): Show | 4 | 214 | 0.0187 | 723 | c.565 others(740): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 5/10 | chr10 | TogoVar | ||||||
| CENPM_chr22_41933737_41952152 | 41939818 | A | AAAAGAAA others(716): Show |
intron_variant | MODIFIER | NA18939.hp1 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0139 | 1 | 258 | 0.0039 | 723 | c.403 others(738): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
| CHRNA4_chr20_63338223_63366349 | 63361431 | G | GGGAGGGG others(716): Show |
upstream_gene_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0048 | 1 | 168 | 0.0060 | 723 | c.-26 others(732): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 83 | chr20 | TogoVar | ||||||
| CRLF3_chr17_30777684_30829692 | 30792923 | G | GAGGCGGG others(716): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00735.hp1 HG01069.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163a0001c0001t0001g0167a0001c0001t0001g0178others(7): Show | 10 | 324 | 0.0309 | 723 | c.827 others(738): Show |
CRLF3 | ENSG00000176390.12 | transcript | ENST00000324238.7 | protein_coding | 5/7 | chr17 | TogoVar | ||||||
| DHRS3_chr1_12562910_12623210 | 12565675 | C | CTCCTGGC others(716): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02647.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0017a0001c0001t0028others(3): Show | a0001c0001t0002g0178a0001c0001t0017g0313a0001c0001t0028g0258others(4): Show | 7 | 376 | 0.0186 | 723 | c.*26 others(734): Show |
DHRS3 | ENSG00000162496.9 | transcript | ENST00000616661.5 | protein_coding | 2234 | chr1 | TogoVar | ||||||
| DNAH17_chr17_78418697_78582396 | 78438425 | A | AAGGAGGA others(716): Show |
intron_variant | MODIFIER | HG03490.hp2 HG03492.hp2 |
a0004 | a0004c0011 | a0004c0011t0001 | a0004c0011t0001g0027a0004c0011t0001g0028 | 2 | 252 | 0.0079 | 723 | c.118 others(742): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
| DOCK3_chr3_50669927_51389198 | 51371911 | A | AAGGTTCC others(716): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 212 | 0.0047 | 723 | c.529 others(742): Show |
DOCK3 | ENSG00000088538.13 | transcript | ENST00000266037.10 | protein_coding | 49/52 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| DOCK8_chr9_209865_470255 | 400154 | C | CCACCACC others(716): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02723.hp2 |
a0011a0050 | a0011c0156a0050c0149 | a0011c0156t0001a0050c0149t0010 | a0011c0156t0001g0052a0050c0149t0010g0071 | 2 | 256 | 0.0078 | 723 | c.323 others(740): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| DPEP1_chr16_89608642_89643433 | 89619306 | C | CCCCCCCT others(716): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0178 | 1 | 250 | 0.0040 | 723 | c.-10 others(742): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| EIPR1_chr2_3183970_3382818 | 3331228 | T | TAGTGTCA others(716): Show |
intron_variant | MODIFIER | HG00408.hp2 NA18952.hp2 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0088a0001c0001t0001g0090a0001c0001t0002g0086 | 3 | 250 | 0.0120 | 723 | c.259 others(740): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | ||||||
| FLT3_chr13_27998274_28105576 | 27998959 | A | ATATATAT others(716): Show |
downstream_gene_variant | MODIFIER | HG01071.hp2 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0212 | 1 | 292 | 0.0034 | 723 | c.*50 others(734): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4314 | chr13 | TogoVar | ||||||
| FLT3_chr13_27998274_28105576 | 27998959 | A | ATATATAT others(716): Show |
downstream_gene_variant | MODIFIER | NA18747.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0096 | 1 | 292 | 0.0034 | 723 | c.*50 others(734): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4314 | chr13 | TogoVar | ||||||
| FLT4_chr5_180596506_180654600 | 180615696 | T | TTCTCCAC others(716): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0030 | 1 | 388 | 0.0026 | 723 | c.321 others(740): Show |
FLT4 | ENSG00000037280.16 | transcript | ENST00000261937.11 | protein_coding | 23/29 | chr5 | TogoVar | ||||||
| FLT4_chr5_180596506_180654600 | 180615696 | T | TTCTCCAC others(716): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00609.hp1 others(31): Show |
a0001a0002a0026others(1): Show | a0001c0009a0002c0002a0002c0008others(5): Show | a0001c0009t0004a0001c0009t0014a0002c0002t0001others(13): Show | a0001c0009t0004g0013a0001c0009t0014g0083a0002c0002t0001g0027others(30): Show | 34 | 388 | 0.0876 | 723 | c.321 others(740): Show |
FLT4 | ENSG00000037280.16 | transcript | ENST00000261937.11 | protein_coding | 23/29 | chr5 | TogoVar | ||||||
| FLT4_chr5_180596506_180654600 | 180635697 | A | AAGTATGG others(716): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0268 | 1 | 388 | 0.0026 | 723 | c.59- others(738): Show |
FLT4 | ENSG00000037280.16 | transcript | ENST00000261937.11 | protein_coding | 1/29 | chr5 | TogoVar | ||||||
| FTCD_chr21_46131779_46160579 | 46144472 | C | CTCCCCCC others(716): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 230 | 0.0044 | 723 | c.126 others(740): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | ||||||
| FTCD_chr21_46131779_46160579 | 46144485 | T | TCCCCTTT others(716): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0153 | 1 | 230 | 0.0044 | 723 | c.126 others(740): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | ||||||
| FTCD_chr21_46131779_46160579 | 46144485 | T | TCCCCTTT others(716): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0035 | a0001c0035t0002 | a0001c0035t0002g0191 | 1 | 230 | 0.0044 | 723 | c.126 others(740): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | ||||||
| FTCD_chr21_46131779_46160579 | 46144485 | T | TCCCCTTT others(716): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0013 | a0013c0030 | a0013c0030t0001 | a0013c0030t0001g0172 | 1 | 230 | 0.0044 | 723 | c.126 others(740): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | ||||||
| FTCD_chr21_46131779_46160579 | 46144485 | T | TCCCCTTT others(716): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0003 | a0003c0007 | a0003c0007t0002 | a0003c0007t0002g0136 | 1 | 230 | 0.0044 | 723 | c.126 others(740): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | ||||||
| FTCD_chr21_46131779_46160579 | 46144485 | T | TCCCCTTT others(716): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0003 | a0003c0007 | a0003c0007t0002 | a0003c0007t0002g0138 | 1 | 230 | 0.0044 | 723 | c.126 others(740): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | ||||||
| FTCD_chr21_46131779_46160579 | 46144485 | T | TCCCCTTT others(716): Show |
intron_variant | MODIFIER | HG00099.hp2 HG02809.hp1 HG03195.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0003a0001c0002t0002g0017a0001c0002t0002g0190 | 4 | 230 | 0.0174 | 723 | c.126 others(740): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | ||||||
| GALR1_chr18_77244848_77282900 | 77252908 | C | CCACCACC others(716): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0060 | 1 | 366 | 0.0027 | 723 | c.666 others(740): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| GMDS_chr6_1618806_2250605 | 2201060 | C | CGAGATGA others(716): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 166 | 0.0060 | 723 | c.102 others(742): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 1/10 | chr6 | TogoVar | ||||||
| GNG13_chr16_793041_805734 | 795584 | G | GCCCCCCC others(716): Show |
downstream_gene_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 422 | 0.0024 | 723 | c.*31 others(734): Show |
GNG13 | ENSG00000127588.5 | transcript | ENST00000248150.5 | protein_coding | 2456 | chr16 | TogoVar | ||||||
| GRIK4_chr11_120506748_120993906 | 120876376 | T | TCACCACC others(716): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0030 | 1 | 128 | 0.0078 | 723 | c.116 others(742): Show |
GRIK4 | ENSG00000149403.13 | transcript | ENST00000527524.8 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| IFFO2_chr1_18899280_18961676 | 18925812 | A | ATGGATGG others(716): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 376 | 0.0027 | 723 | c.666 others(740): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
| LAMA5_chr20_62304065_62372312 | 62360489 | T | TGGGTGGA others(716): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0058 | a0058c0122 | a0058c0122t0001 | a0058c0122t0001g0080 | 1 | 186 | 0.0054 | 723 | c.450 others(740): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 2/79 | chr20 | TogoVar | ||||||
| LHPP_chr10_124456823_124619141 | 124471471 | A | ATATTTTA others(716): Show |
intron_variant | MODIFIER | NA18947.hp2 NA18951.hp1 NA18975.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0040a0001c0001t0001g0083a0001c0001t0001g0159others(1): Show | 4 | 260 | 0.0154 | 723 | c.125 others(740): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| LHPP_chr10_124456823_124619141 | 124471471 | A | ATATTTTA others(716): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02735.hp1 HG04184.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033a0001c0001t0001g0068a0001c0001t0001g0087others(1): Show | 4 | 260 | 0.0154 | 723 | c.125 others(740): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| LHPP_chr10_124456823_124619141 | 124610989 | C | CGGGTGAG others(716): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 260 | 0.0039 | 723 | c.717 others(740): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| MAN2B2_chr4_6570189_6628362 | 6579135 | C | CCACCACC others(716): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0233 | 1 | 362 | 0.0028 | 723 | c.391 others(738): Show |
MAN2B2 | ENSG00000013288.9 | transcript | ENST00000285599.8 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| MOCS1_chr6_39899170_39939462 | 39926745 | G | GGGAAGGG others(716): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0214 | 1 | 272 | 0.0037 | 723 | c.250 others(738): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
| MRPL28_chr16_361969_375538 | 370390 | G | GCTACCCC others(716): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0025 | 2 | 394 | 0.0051 | 723 | c.-8+ others(736): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | ||||||
| MSR1_chr8_16102881_16197651 | 16189588 | A | ATATTTTA others(716): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248 | 1 | 330 | 0.0030 | 723 | c.-5+ others(738): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
| MSR1_chr8_16102881_16197651 | 16189588 | A | ATATTTTA others(716): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 330 | 0.0030 | 723 | c.-5+ others(738): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
| MSRB3_chr12_65273683_65471907 | 65425002 | C | CTATATAT others(716): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0286 | 1 | 312 | 0.0032 | 723 | c.293 others(742): Show |
MSRB3 | ENSG00000174099.12 | transcript | ENST00000308259.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| MYRIP_chr3_39804609_40265321 | 40203833 | A | ATAAATAT others(716): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02630.hp1 HG02895.hp1 others(3): Show |
a0001 | a0001c0004a0001c0006a0001c0014 | a0001c0004t0001a0001c0006t0006a0001c0014t0007 | a0001c0004t0001g0079a0001c0006t0006g0084a0001c0006t0006g0085others(3): Show | 6 | 170 | 0.0353 | 723 | c.166 others(742): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| NFATC1_chr18_79390930_79534323 | 79532331 | C | CTGCAGCC others(716): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 | a0004 | a0004c0020 | a0004c0020t0012 | a0004c0020t0012g0003 | 1 | 322 | 0.0031 | 723 | c.*47 others(734): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 3009 | chr18 | TogoVar | ||||||
| NT5C1A_chr1_39646229_39677107 | 39664497 | T | TCCTCTCC others(716): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0076 | 1 | 326 | 0.0031 | 723 | c.433 others(740): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | ||||||
| P2RX5_chr17_3668227_3701155 | 3685648 | G | GCGTCCCC others(716): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0279 | 1 | 362 | 0.0028 | 723 | c.981 others(740): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | ||||||
| PGAP6_chr16_365788_386978 | 370390 | G | GCTACCCC others(716): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001a0001c0001t0002g0064 | 2 | 376 | 0.0053 | 723 | c.*15 others(734): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 397 | chr16 | TogoVar | ||||||
| PHF21B_chr22_44876162_45015005 | 44984136 | A | ACCACCAT others(716): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 300 | 0.0033 | 723 | c.120 others(742): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 2/12 | chr22 | TogoVar | ||||||
| PHF21B_chr22_44876162_45015005 | 44984159 | C | CACCACCA others(716): Show |
intron_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 300 | 0.0033 | 723 | c.120 others(742): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 2/12 | chr22 | TogoVar | ||||||
| PNPLA7_chr9_137454952_137555402 | 137502685 | A | AGGGGGAT others(716): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0002 | 1 | 188 | 0.0053 | 723 | c.147 others(740): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar |