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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
VIPR2_chr7_159023175_159149867 | 159088856 | A | AGCTCCTC others(639): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0050 | 1 | 336 | 0.0030 | 646 | c.357 others(665): Show |
VIPR2 | ENSG00000106018.14 | transcript | ENST00000262178.7 | protein_coding | 4/12 | chr7 | TogoVar | |||||||
VIPR2_chr7_159023175_159149867 | 159088856 | A | AGCTCCTC others(639): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp2 others(26): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 others(26): Show |
29 | 336 | 0.0863 | 646 | c.357 others(665): Show |
VIPR2 | ENSG00000106018.14 | transcript | ENST00000262178.7 | protein_coding | 4/12 | chr7 | TogoVar | |||||||
VIPR2_chr7_159023175_159149867 | 159088894 | G | GGCTCCTC others(639): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0131 | 1 | 336 | 0.0030 | 646 | c.357 others(665): Show |
VIPR2 | ENSG00000106018.14 | transcript | ENST00000262178.7 | protein_coding | 4/12 | chr7 | TogoVar | |||||||
ZBTB34_chr9_126855639_126890878 | 126876197 | T | TCCCCCTT others(639): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 246 | 0.0041 | 646 | c.-10 others(663): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar | |||||||
ABCC1_chr16_15944616_16148053 | 15999866 | C | CCTTCCTT others(640): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0142 | 1 | 249 | 0.0040 | 647 | c.49- others(662): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | chr16 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113419002 | T | TCCTTCCT others(640): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0002 | a0002c0001 | a0002c0001t0061 | a0002c0001t0061g0053 | 1 | 262 | 0.0038 | 647 | c.106 others(666): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113419038 | C | CCCCTTCC others(640): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0046 | 1 | 262 | 0.0038 | 647 | c.106 others(666): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
AMER2_chr13_25156679_25177288 | 25159099 | T | TATATATA others(640): Show |
downstream_gene_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0000 | 1 | 416 | 0.0024 | 647 | c.*10 others(660): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2579 | chr13 | TogoVar | |||||||
ANO9_chr11_412938_447011 | 431622 | C | CGGGTATC others(640): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 286 | 0.0035 | 647 | c.539 others(660): Show |
ANO9 | ENSG00000185101.13 | transcript | ENST00000332826.7 | protein_coding | 7/22 | chr11 | TogoVar | |||||||
ANO9_chr11_412938_447011 | 431622 | C | CGGGTATC others(640): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 286 | 0.0035 | 647 | c.539 others(660): Show |
ANO9 | ENSG00000185101.13 | transcript | ENST00000332826.7 | protein_coding | 7/22 | chr11 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88888557 | T | TGGGGTGG others(640): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0019 | a0019c0022 | a0019c0022t0001 | a0019c0022t0001g0209 | 1 | 284 | 0.0035 | 647 | c.712 others(664): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88888557 | T | TGGGGTGG others(640): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0014 | a0014c0033 | a0014c0033t0001 | a0014c0033t0001g0012 | 1 | 284 | 0.0035 | 647 | c.712 others(664): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56098080 | A | AATAAATA others(640): Show |
intron_variant | MODIFIER | NA18965.hp1 | a0013 | a0013c0020 | a0013c0020t0006 | a0013c0020t0006g0024 | 1 | 264 | 0.0038 | 647 | c.181 others(666): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56098080 | A | AATAAATA others(640): Show |
intron_variant | MODIFIER | HG03239.hp2 HG03688.hp1 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0003g0076 |
3 | 264 | 0.0114 | 647 | c.181 others(666): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56098080 | A | AATAAATA others(640): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0009 | 1 | 264 | 0.0038 | 647 | c.181 others(666): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110255707 | A | AAGGCAGG others(640): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 344 | 0.0029 | 647 | c.85- others(664): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
CUL4A_chr13_113204613_113272108 | 113232020 | A | ACCACTAC others(640): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0278 | 1 | 396 | 0.0025 | 647 | c.513 others(664): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
EIPR1_chr2_3183970_3382818 | 3221594 | T | TCGGGAAC others(640): Show |
intron_variant | MODIFIER | HG02071.hp1 HG02809.hp1 HG03453.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0109 a0001c0001t0001g0159 a0001c0001t0001g0161 others(1): Show |
4 | 250 | 0.0160 | 647 | c.417 others(664): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 4/8 | chr2 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 519116 | A | AAACCACC others(640): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 272 | 0.0037 | 647 | c.238 others(668): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322909 | T | TAATATAT others(640): Show |
upstream_gene_variant | MODIFIER | HG01168.hp2 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0151 a0001c0001t0002g0156 |
2 | 323 | 0.0062 | 647 | c.-21 others(658): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2060 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33323165 | A | ATATATAT others(640): Show |
upstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 323 | 0.0031 | 647 | c.-18 others(658): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1804 | chr21 | TogoVar | |||||||
KIAA0930_chr22_45187244_45245894 | 45228863 | C | CCACCAAA others(640): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0049 | 1 | 398 | 0.0025 | 647 | c.64+ others(664): Show |
KIAA0930 | ENSG00000100364.19 | transcript | ENST00000336156.10 | protein_coding | 1/9 | chr22 | TogoVar | |||||||
KLHDC4_chr16_87702812_87770986 | 87738936 | C | CACACCAG others(640): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0037 | 1 | 380 | 0.0026 | 647 | c.507 others(664): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
KLHDC4_chr16_87702812_87770986 | 87738936 | C | CACACCAG others(640): Show |
intron_variant | MODIFIER | HG03688.hp2 HG03710.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0165 a0002c0002t0002g0200 |
2 | 380 | 0.0053 | 647 | c.507 others(664): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
KREMEN1_chr22_29068035_29151820 | 29120084 | T | TGGAGGAG others(640): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0265 | 1 | 368 | 0.0027 | 647 | c.353 others(664): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
LHFPL3_chr7_104323603_104913561 | 104824213 | T | TATAATAT others(640): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0005 | 1 | 86 | 0.0116 | 647 | c.683 others(666): Show |
LHFPL3 | ENSG00000187416.13 | transcript | ENST00000424859.7 | protein_coding | 2/2 | chr7 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124471627 | T | TATGTATT others(640): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 260 | 0.0039 | 647 | c.125 others(664): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | chr10 | TogoVar | |||||||
MED27_chr9_131855112_132084867 | 131964326 | G | GAGGTGAT others(640): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01256.hp2 HG01433.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 others(2): Show |
5 | 274 | 0.0183 | 647 | c.480 others(666): Show |
MED27 | ENSG00000160563.14 | transcript | ENST00000292035.10 | protein_coding | 3/7 | chr9 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(640): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0012 | a0012c0016 | a0012c0016t0003 | a0012c0016t0003g0180 | 1 | 292 | 0.0034 | 647 | c.218 others(662): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
MLPH_chr2_237482251_237560322 | 237542778 | G | GGTGAGTG others(640): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0096 | 1 | 286 | 0.0035 | 647 | c.153 others(664): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MROH1_chr8_144143016_144266926 | 144218788 | T | TCTGCTCT others(640): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0069 | 1 | 140 | 0.0071 | 647 | c.114 others(666): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MRPL28_chr16_361969_375538 | 370388 | C | CCCCTACC others(640): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0075 | 1 | 394 | 0.0025 | 647 | c.-8+ others(660): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
MRPL28_chr16_361969_375538 | 370388 | C | CCCCTACC others(640): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0197 | 1 | 394 | 0.0025 | 647 | c.-8+ others(660): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
MRPL28_chr16_361969_375538 | 370388 | C | CCCCTACC others(640): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(44): Show |
a0001a0008 | a0001c0001a0008c0011 | a0001c0001t0002a0001c0001t0010a0001c0001t0012others(2): Show | a0001c0001t0002g0002 a0001c0001t0002g0030 a0001c0001t0002g0176 others(6): Show |
47 | 394 | 0.1193 | 647 | c.-8+ others(660): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
MRPL28_chr16_361969_375538 | 370388 | C | CCCCTACC others(640): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0173 | 1 | 394 | 0.0025 | 647 | c.-8+ others(660): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
MRPL28_chr16_361969_375538 | 370388 | C | CCCCTACC others(640): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0174 | 1 | 394 | 0.0025 | 647 | c.-8+ others(660): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
MRPL28_chr16_361969_375538 | 370390 | G | GCTACCCC others(640): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0152 | 1 | 394 | 0.0025 | 647 | c.-8+ others(660): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
NFILZ_chr19_8625633_8686151 | 8656420 | C | CTTCTCTC others(640): Show |
intron_variant | MODIFIER | HG02735.hp2 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0014 | a0001c0001t0005g0322 a0001c0001t0014g0233 |
2 | 366 | 0.0055 | 647 | c.-16 others(668): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NKAIN2_chr6_123798865_124830640 | 124687566 | T | TATATTCC others(640): Show |
intron_variant | MODIFIER | HG01346.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0011 |
2 | 66 | 0.0303 | 647 | c.474 others(666): Show |
NKAIN2 | ENSG00000188580.16 | transcript | ENST00000368417.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
NOTCH1_chr9_136489433_136551048 | 136534843 | C | CCCAGTCC others(640): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00438.hp1 others(96): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0003others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0181 a0001c0001t0001g0186 a0001c0001t0001g0201 others(95): Show |
99 | 324 | 0.3056 | 647 | c.140 others(664): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136534843 | C | CCCAGTCC others(640): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0313 | 1 | 324 | 0.0031 | 647 | c.140 others(664): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136534843 | C | CCCAGTCC others(640): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0004 | a0001c0004t0009 | a0001c0004t0009g0245 | 1 | 324 | 0.0031 | 647 | c.140 others(664): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136534843 | C | CCCAGTCC others(640): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0004 | a0001c0004t0009 | a0001c0004t0009g0244 | 1 | 324 | 0.0031 | 647 | c.140 others(664): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136534843 | C | CCCAGTCC others(640): Show |
intron_variant | MODIFIER | HG00673.hp1 HG02630.hp1 NA18952.hp1 others(2): Show |
a0001 | a0001c0001a0001c0008a0001c0011 | a0001c0001t0001a0001c0001t0033a0001c0008t0001others(1): Show | a0001c0001t0001g0257 a0001c0001t0033g0307 a0001c0008t0001g0208 others(2): Show |
5 | 324 | 0.0154 | 647 | c.140 others(664): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
PGAP6_chr16_365788_386978 | 370388 | C | CCCCAACC others(640): Show |
downstream_gene_variant | MODIFIER | HG02293.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0002 | 1 | 376 | 0.0027 | 647 | c.*15 others(658): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 399 | chr16 | TogoVar | |||||||
PGAP6_chr16_365788_386978 | 370388 | C | CCCCTACC others(640): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(46): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0005others(5): Show | a0001c0001t0004a0002c0002t0001a0002c0002t0004others(7): Show | a0001c0001t0004g0055 a0001c0001t0004g0056 a0002c0002t0001g0006 others(26): Show |
49 | 376 | 0.1303 | 647 | c.*15 others(658): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 399 | chr16 | TogoVar | |||||||
PGAP6_chr16_365788_386978 | 370388 | C | CCCCTACC others(640): Show |
downstream_gene_variant | MODIFIER | HG03831.hp1 | a0018 | a0018c0020 | a0018c0020t0001 | a0018c0020t0001g0131 | 1 | 376 | 0.0027 | 647 | c.*15 others(658): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 399 | chr16 | TogoVar | |||||||
PGAP6_chr16_365788_386978 | 370388 | C | CCCCTACC others(640): Show |
downstream_gene_variant | MODIFIER | HG01993.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0134 | 1 | 376 | 0.0027 | 647 | c.*15 others(658): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 399 | chr16 | TogoVar | |||||||
PGAP6_chr16_365788_386978 | 370390 | G | GCTACCCC others(640): Show |
downstream_gene_variant | MODIFIER | HG03209.hp2 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0166 | 1 | 376 | 0.0027 | 647 | c.*15 others(658): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 397 | chr16 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(640): Show |
intron_variant | MODIFIER | NA18962.hp1 NA18999.hp2 NA19011.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0078 a0001c0002t0001g0083 a0001c0002t0001g0116 |
3 | 282 | 0.0106 | 647 | c.299 others(662): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar |